What is Multiple System Atrophy?

Multiple System Atrophy (MSA) is a type of degenerative neurological disorder. It is associated with degeneration of the nerve cells in certain specific areas of the brain. This characteristic cell- degeneration leads to problems with balance, movement as well as other autonomic processes of the body, like blood pressure regulation and bladder control.

The condition is sometimes referred to as Shy–Drager Syndrome, when the characteristic features include Parkinsonism as well as a pronounced failure of autonomous nervous system. However, this term is not much in use nowadays.

Multiple System Atrophy Prevalence

MSA is a rare condition, occurring in only about 4.6 cases in per 100000 individuals. It is more prevalently seen in the male population than in females, the ratio of which can range anywhere between 1.4:1 and 1.9:1. Average age during the onset of symptoms is around 60 years.

Multiple System Atrophy Causes

There are no known causes for the brain changes observed in this disorder. Some researchers are currently studying whether there is a hereditary aspect or environmental toxin that is responsible for the disease. However, there are no substantial evidences as yet to support these working theories. MSA is linked with deterioration and atrophy of various parts of the brain such as brainstem, cerebellum and basal ganglia that regulate various internal body functions such as motor control and digestion. A microscopic evaluation of the damaged parts of the brain tissues taken from people having MSA reveals that the nerve cells (neurons) contain high quantities of a protein known as alpha-synuclein. Researchers believe that this protein is dominant in this disorder and may play a pivotal role in its development.

Multiple System Atrophy Symptoms

There are numerous signs and symptoms that are associated with this disorder. A detailed list of the various features of multiple system atrophy is presented below:

• Facial changes

These include:

1. Staring
2. Inability to close the mouth
3. Mask-like appearance of the face
4. Reduced ability to form facial expressions

• Impotency
• Frequent falls
• Irregular heartbeat
• Loss of bladder or bowel control
• Occasional difficulty in chewing or swallowing
• Fainting or dizziness while standing up or even after standing still
• Disrupted sleep patterns mainly during the REM (rapid eye movement) stage late at night
• Loss of various fine motor skills, manifested by:

1. Difficulty experienced while eating
2. Difficulty with activities that require small movements
3. Writing that is characterized as small and difficult to decipher

• Mild decline in regular mental functioning
• Loss or absence of sweating in one or multiple parts of the body
• Difficulties relating to movement, such as:

1. Shuffling
2. Loss of balance
3. Changes in the walking pattern or gait

• Myalgia or muscle pains and aches
• Parkinsonism
• Rigidity of the muscles, characterized by:

1. Stiffness
2. Difficulty in bending the arms and legs

• Nausea
• Problems with digestion
• Difficulty in maintaining correct posture
• Ataxia
• Cerebellar dysfunction or difficulty in the coordination of movement and balance
• Slow movements or bradykinesia, characterized by:

1. Compulsion to run after taking small steps in order to keep balance
2. Freezing of movements once movement in stopped, being unable to commence moving again
3. Difficulty experienced while beginning to walk or while starting any type of voluntary movements

• Tremors, manifested by problems like:

1. Finger-thumb rubbing or pill rolling tremor
2. May occur while at rest or during any other time
3. May intensify enough to hamper regular activities
4. May become worse when excited, tired or stressed
5. May occur while performing any action, for e.g., holding a dish or any other eating utensils

• Vision changes, such as blurred or decreased vision, double vision
• Changes in speech and voice, marked by:

1. Monotone
2. Speaking slowly
3. Difficulty speaking
4. Voice is in low volume

• Dysfunction of the autonomic nervous system, leading to:

1. Loud snoring
2. Dry skin and mouth
3. Paralysis of the vocal cord
4. Inspiratory stridor while sleeping
5. Orthostatic or postural hypotension
6. Urinary retention or urinary incontinence

Other signs and symptoms that may develop with this disorder include:

• Dementia
• Confusion
• Depression
• Difficulty in controlling emotions
• Breathing difficulties that are related to sleep, such as sleep apnea or blocking of the air passage which leads to the emission of a type of harsh vibrating sound

Multiple System Atrophy Diagnosis

Diagnosing MSA can be challenging as there are no definite tests that can conclusively prove an individual is having this disease. Certain symptoms of MSA also occur independently or with other conditions, such as Ataxia or Parkinson’s disease, which makes diagnosis even more difficult. A doctor first conducts a thorough checkup of the physical body, especially the nerves, muscles and eyes. The medical history of affected individuals is also considered while determining the diagnosis. The various diagnostic tests that may be conducted to evaluate this disease may include the following:

• CT scans
• MRI scans
• Blood tests
• Electrocardiogram
• Plasma norepinephrine levels
• Pharmacological challenge tests
• Sweat test, for evaluating perspiration
• Tests to evaluate bowel and bladder functions
• Detection of surplus glial cytoplasmic inclusions within the CNS (central nervous system)
• Urine examination, for detecting norepinephrine breakdown products (such as urine catecholamines)
• Tilt table test, which involves monitoring of a patient’s blood pressure while he or she is laid on a special table that tilts the body to a nearly upright position. This permits a doctor to see if there are any blood pressure irregularities, as well as see if they occur with changes in physical positions.

Patients experiencing sleep irregularities are often recommended to undergo assessment in a sleep clinic to see if there is any underlying sleep disorder like sleep apnea that needs to be managed separately.

Multiple System Atrophy Differential Diagnosis

There are a number of disorders that show signs and symptoms similar to that of multiple system atrophy. Hence while determining the diagnosis of this condition; the diagnostician should differentiate it from such similar health disorders. The differential diagnoses of MSA include conditions such as:

• Neurosyphilis
• Chorea in Adults
• Neurosarcoidosis
• Multiple Sclerosis
• Parkinson’s disease
• Neuroacanthocytosis
• Multi-infarct dementia
• Pure autonomic failure
• Paraneoplastic Disease
• Mitochondrial cytopathies
• Parkinson-Plus Syndromes
• Hallervorden-Spatz Disease
• Cerebrovascular syndromes
• Olivopontocerebellar Atrophy
• Pelizaeus-Merzbacher Disease
• Neuroacanthocytosis Syndromes
• Cortical Basal Ganglionic Degeneration
• Parkinson’s disease in young adults
• Fragile X-associated tremor/ataxia syndrome or FXTAS
• Progressive supranuclear palsy (PSP) or Steele-Richardson-Olszewski syndrome
• Idiopathic Orthostatic Hypotension as well as other autonomic failure syndromes

Multiple System Atrophy Treatment

There are no definitive treatments for Multiple System Atrophy. Treatment is mainly aimed at addressing the various symptoms of the condition. The case of such patients should be supervised by a neurologist who specializes in movement disorders, because the complex symptoms associated with MSA are frequently not known to the less specialized healthcare professionals.

If there is a drop in the blood pressure while standing up, the patient should be treated with a synthetic mineralocorticoid called fludrocortisone. Another drug commonly in use is the alpha-agonist called midodrine. Other drugs that can be used to manage low BP include:

• Beta-blockers
• Vasoconstrictors
• MAO inhibitors
• Vasopressin

Non-drug treatment procedures include generous consumption of fluids, usage of pressure or elastic stockings, increasing salt in diet or having salt tablets, or having a head-up tilt, i.e., elevating the upper part of the bed by almost 10 degrees. The patient should also stay away from agents that might trigger a low blood pressure, as for example, alcohol, dehydration and hot weather. A pacemaker might also be used to raise the heartbeat to increase the blood pressure.

Symptoms of constipation can be managed by administration of laxatives and by sticking to a high fiber diet. Erectile dysfunction can be treated by impotence drugs like sildenafil. Medications can be used to manage bladder problems at the earlier stages. However, a soft tube or a catheter might be required to drain the bladder at the progressed stages.

Anticholinergic drugs might be prescribed to manage mild tremors. Levodopa or L-Dopa is not much effective in treating the Parkinsonian symptoms of MSA, although it is a drug that is frequently used to treat Parkinson’s disease. Carbidopa can be added to Levodopa which can help reducing its side effects as well as increasing its effectiveness. A study conducted in 2012 revealed that mesenchymal stem cell therapy can delay progression of the neurological problems in individuals having cerebellar type MSA.

Patients should be treated by rehabilitation professionals such as physiotherapists, physiatrists, speech therapists, occupational therapists, and others to manage problems that are associated with daily tasks, walking and movement, as well as various speech difficulties. Physiotherapy can aid in helping patients to maintain mobility and prevent contractures. Instructing the patients in aspects of gait training will allow them to improve on their mobility as well as decrease the risk of falls. Mobility aids, like a walker or a cane may be prescribed by a physiotherapist that may ensure the safety of patients. Physiotherapists can also instruct patients on how to stand up slowly from a sitting position as this will decrease the risk of falls and reduce the effects of postural hypotension. Ankle pumping can facilitate return of the blood to the legs to promote systemic circulation. Postural hypotension can be further managed by raising the upper portion of bed by around 8 inches while sleeping and by using elastic compression garments. A feeding or a breathing tube might be required to be inserted surgically to help with breathing and swallowing difficulties.

At a progressed level of the disease, a gastrostomy tube that transports the food directly into the stomach might be required. Hospice or homecare services might be required along with progressive disability.

Multiple System Atrophy Complications

MSA patients can experience the following health complications:

• Vocal cord paralysis
• Breathing abnormalities
• Injuries from falling or fainting
• Increased difficulty in swallowing
• Progressive loss of independence
• Difficulty in performing day-to-day activities
• Side effects from various medications, such as delusions, hallucinations, nausea, vomiting, confusion, etc.

Multiple System Atrophy Prognosis

MSA usually progresses more rapidly than Parkinson’s disease. The outcome for the condition is generally poor as there are no remissions from this disease and death occurs eventually. The rate of progression of the condition may vary from one patient to another and eventual speed of decline varies greatly in individual patients. An early autonomic dysfunction is the most vital early medical prognostic feature with relation to survival in MSA. Individuals having concomitant motor and/or autonomic dysfunction within three years of onset of symptoms have a shorter duration of survival. They may also become bed-ridden and wheelchair bound much earlier than others. Individuals who also develop severe dysphagia, fall frequently or require residential care have a shorter lifespan as compared to others who do not have these additional symptoms.

Multiple System Atrophy Life Expectancy

The average life expectancy of MSA patients, after the onset of symptoms, is usually 7 to 9 years. The overall outcome is bleak, with patients mostly dying within a decade.

Multiple System Atrophy Pictures

The following images display the condition of patients affected by MSA.

Picture 1 – Multiple System Atrophy

Picture 2 – Multiple System Atrophy Image

References:

http://en.wikipedia.org/wiki/Multiple_system_atrophy

http://www.mc.vanderbilt.edu/root/vumc.php?site=adc&doc=4791

http://www.nlm.nih.gov/medlineplus/ency/article/000757.htm

http://www.mayoclinic.com/health/shy-drager-syndrome/DS00989

Osteitis Deformans is a type of chronic disorder in which the normal process of bone recycling is affected. Bone recycling is a method by which the old bone tissues are slowly and gradually replaced by new bone tissues. However, in an individual with this condition, this does not happen in a smooth fashion. Over time, the bones that get affected may become fragile, enlarged and misshapen. The condition generally occurs within a localized area and affects a limited number of bones unlike osteoporosis, which normally affects all bones in the entire body. The condition mostly occurs in skull, pelvis, spine, femur and the lower legs.

The disorder is also known as Osteodystrophia Deformans and Paget’s disease of bone.

Osteitis Deformans Epidemiology

The condition mainly affects people who are aged over 50 years. It is mostly predominant in males, with 3 men developing the disorder for every 2 women. It gets more common with ever-increasing age. Around 8 out of 100 men and 5 out of 100 women who are aged above 80 are believed to have Osteitis Deformans. However, most individuals having this disorder show no symptoms and won’t be aware of the fact that they are having this bone-deforming condition. Statistics show UK as having the highest number of Osteitis Deformans patients in the world. People living in Greece and central Europe follow closely. It is not known why the disease is so much prevalent in UK, although genetic factors are believed to be responsible for it.

Osteitis Deformans Causes

The underlying reason behind this condition is an issue with osteoclast bone cells. Abnormal osteoclasts are present in the affected areas of the bony surface which are much bigger than normal as well as more in number. These bones are believed to be wrongly programmed in their bone molding patterns. More bone is resorbed or dissolved than normal by these abnormal osteoclasts. Due to this reason, the osteoblasts exhibit much more activity to create new bone material. However, this increased bone turnover causes badly structured bony areas to develop that are wrongly interwoven.

Although the exact factors that cause the development of this problem are not exactly known, the following causes are believed to play a role.

• A slow virus infection, such as paramyxoviruses, that is present for several years before the symptoms appear.
• Measles
• Respiratory syncytial virus, which is sometimes held responsible for this disorder.
• Canine distemper virus, which can also lead to this condition.
• Certain hereditary factors. The genes normally believed to play a part in the causation of Osteitis Deformans include PDB1, PDB2, PDB3 and PDB4.

Osteitis Deformans Pathogenesis

The pathogenesis of this disorder can be described in four stages:

1. Osteoclastic activities
2. Mixed osteoclastic-osteoblastic activities
3. Osteoblastic activities
4. Malignant degeneration

At the initial stages, a sharp rise in bone resorption rate can be seen at localized areas which are caused by the large number of osteoclasts. These localized sections of osteolysis appear in radiological examinations as a progressing lytic wedge in the long bones or as osteoporosis circumscripta in skull. Osteolysis is then followed by compensatory increase in the formation of bones which is induced by osteoblasts that are recruited in the area. This, in turn, is associated with an accelerated deposition of the lamellar bones in a disorganized way. The intense cellular activity creates a chaotic array of trabecular bone instead of a normal, healthy linear lamellar pattern. Resorbed bone is then replaced and marrow spaces get filled by excess fibrous connective tissue and a large number of blood vessels, making the bone formation hypervascular. Hypercellularity of the bone may diminish, thereby leaving a densely formed “pagetic bone.”

Osteitis Deformans Symptoms

Many cases of Osteitis Deformans are asymptomatic and the patient never gets to know that they have this disorder. In cases where symptoms do develop, the following signs might be detected:

Pain

The most common of all symptoms, a typically deep-seated bone ache is felt which can be felt during rest or while exercising. It usually gets worse at night, and can vary from being mild to being intense. Shooting pains can be felt in the affected area.

Fractures

The affected bone structures are highly prone to break or fracture. A fracture that follows a minor injury or fall might be the first sign that Osteitis Deformans has developed.

Deformity

Deformities might develop, depending on site of the disorder and the size of the affected bone. Bowing of upper leg occurs frequently and can occur if the femur gets affected. Another sign is bowing of tibia or the lower portion of the leg. This can cause a deformity called Sabre tibia. If the skull gets affected, the head may take on an odd shape. The skull can get enlarged and the individual might develop a prominently wide forehead.

Nerve compression

Pressure can be created on the nearby nerves due to an abnormal overgrowth of bone structures. This can lead to the development of numerous types of symptoms, such as neuralgic pain. Another quite commonly occurring symptom when the skull gets affected is deafness felt in one year. This occurs as a result of the pressure exerted on the ear nerve passing through the affected skull bone.

The other possible signs and symptoms may include feebleness of the muscles or a skin area that are supplied by the compressed nerve, or joint inflammations (arthritis) that may develop when the affected portion of the bone is close to a joint.

Osteitis Deformans Diagnosis

The disorder can be diagnosed by carrying out the following tests:

• A skeletal survey, which needs to be conducted by using X-rays.
• Bone scans, which can prove to be useful in finding out the extent and seriousness of the condition. A radioactive material is at first injected into the body, which travels to the affected spots on the bones affected by this disease, which gets illuminated on the scanning images.
• Blood tests, which can show elevated levels of alkaline phosphatase along with normal amounts of phosphate, calcium, and aminotransferase.
• Urine tests, which can reveal indicators of bone turnover such as Pyridinoline.
• In some rare cases, a bone biopsy might be required to confirm the diagnosis.

Elevated levels of urinary and serum hydroxyproline can also be found.

Osteitis Deformans Differential Diagnosis

Some bone-related conditions bear signs and symptoms that are similar to that of Osteitis Deformans. Hence, a doctor should differentiate the symptoms of Osteitis Deformans from these similar-appearing conditions while trying to confirm the diagnosis.

The differential diagnoses of Osteitis Deformans include distinguishing its symptoms from those of the following disorders:

• Osteoporosis
• Osteoarthritis
• Osteomalacia
• Malignant skeletal metastases

Osteitis Deformans Treatment

The disease can be treated by both nonsurgical and surgical means.

Nonsurgical Treatment

Although medical treatments using medications can help to alleviate the symptoms associated with this disorder, there are no known ways to reverse the adverse effects it has on the bones.

Asymptomatic patients do not require any treatment apart from close observation. X-rays to evaluate bone condition might be necessary from time to time, so that the doctor can chart out any new changes in the bone structure. For patients who are experiencing mild discomfort due to the disorder or due to the arthritic symptoms associated with it, NSAIDs (non-steroidal anti-inflammatory drugs) and Aspirin can prove to be very effective in managing the condition.

If the leg or pelvis is involved, the patient can be advised to use a cane which can effectively reduce the pain by reducing pressure exerted on the bones. A cane also helps to prevent any accidents caused by falls and reduce chances of fractures. Mal-alignment of the bones can be prevented by using braces.

When bone pain becomes critical, medications known as bisphosphonates can be used to treat the condition. These drugs can effectively block osteoclasts and are ideal to treat Osteitis Deformans. Various forms of bisphosphonates exist, which can be taken orally or administered intravenously. The five major bisphosphonates include:

• Risedronate sodium (Actonel)
• Alendronate sodium (Fosamax)
• Pamidronate disodium (Aredia)
• Etidronate disodium (Didronel)
• Tiludronate disodium (Skelid)
• Zoledronic acid (Reclast)

Intravenous Calcitonin (Miacalcin) may also be used. The mode of administration and duration of the drug dose can be decided by the panel of doctors. Alkaline phosphatase levels must be checked from time to time while these medications are being taken because it will decline steadily along with bone pain.

Under the general circumstances, the patients having this disorder should be given 1000 mg to 1500 mg of calcium supplements, vitamin D (400 units) and adequate sunshine on a daily basis. This is especially vital for patients undergoing treatment with bisphosphonates. However, there should at least be a gap of 2 hours between the intake of bisphosphonates and the calcium supplements. Patients with renal problems should discuss with their doctor before taking calcium or vitamin D or any other medications.

Sticking to a light exercise program on a daily basis is necessary to maintain skeletal health, joint mobility and avoiding weight gain. The exercise program should be decided by a fitness expert who will recommend appropriate physical activities based on individual cases.

Surgical Treatment

Surgery is primarily used to treat the complications associated with Osteitis Deformans. Surgery may become essential to mend a fracture, a badly aligned bone or severe arthritis. Surgery is also used to ease the pressure on the nerves created by enlarged bones, especially around the skull or spine. Cutting and realigning a deformed bone (Osteotomy) can resolve the problem of painful weight-bearing joints. Surgery comes in handy when removal of a sarcoma associated with this disorder becomes necessary. Radiation therapy and chemotherapy might also be used.

Osteitis Deformans Complications

A number of health complications are associated with this condition. These include:

• Arthritis
• Fractures
• Neoplasms
• Heart failure
• Bone cancer
• Loss of vision
• Osteopetrosis
• Kidney stones
• Joint diseases
• Osteosarcoma
• Loss of hearing
• Dental problems
• Chondrocalcinosis
• Hashimoto thyroiditis
• Dupuytren contracture
• Cardiovascular diseases
• Osteogenesis imperfecta
• Vascular steal syndrome
• Neuromuscular syndromes
• Problems related to the nervous system

Osteitis Deformans Prognosis

The outcome for Osteitis Deformans patients is generally good, especially if the treatment is administered before any major changes have developed in the bones. The symptoms take time to progress and the condition does not spread to the normal bones. The bones affected by the disease might take longer than normal bones to heal. Patients might require longer than usual rehabilitation. Treatment can control symptoms but cannot cure the disease completely.

Osteitis Deformans Pictures

The following images reveal the bone abnormalities associated with this disease.

Picture 1 - Osteitis Deformans

Picture 2 – Osteitis Deformans Image

References:

http://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485

http://www.patient.co.uk/health/Paget%27s-Disease-of-Bone.htm

http://en.wikipedia.org/wiki/Paget%27s_disease_of_bone

http://orthoinfo.aaos.org/topic.cfm?topic=a00076

Schizophreniform Disorder can be defined as a type of mental disorder that is diagnosed when an individual shows the classic symptoms of Schizophrenia for a major part of the time in a one-month period, but the symptoms of disruption are not evident for the full 6 months required for a proper diagnosis of Schizophrenia.

Schizophreniform Disorder Prevalence

About one out of every 1000 individuals develops this disorder. It occurs equally both in men as well as women. However, the onset of symptoms occurs earlier in men, between 18 and 24 years of age. In women, schizophreniform disorder mostly occurs between 24 and 35 years of age.

Schizophreniform Disorder Causes

Although the exact factors that lead to the development of schizophreniform disorder are not known, scientists have proposed certain genetic, biochemical as well as environmental factors to explain the origin of this disorder. The various probable causes are described here in brief:

• Genetics or heredity may play an important role in the development of this disorder wherein the parents may pass on certain mutations to their children making them vulnerable to it. Experts have suggested a diathesis-stress model, which explains that some individuals may have an underlying multi-factorial genetic susceptibility to the disease that might get triggered by some specific environmental factors. People who have family members affected by bipolar disorder or schizophrenia are more prone to develop schizophreniform disorder.
• Patients affected by schizophreniform disorder or schizophrenia might have a chemical imbalance in the brain. Chemicals known as neurotransmitters help the nerve cells in brain to transport messages across themselves. An imbalance of neurotransmitters can affect smooth transmission of these messages thereby leading to symptoms.
• Research shows that certain specific environmental factors like poor social interactions and/or highly stressful events might lead to the development of schizophreniform disorder in individuals who have already inherited genetic tendencies to develop this illness.
• Intense hormonal changes that occur during childbirth or immediately afterwards may lead to the development of a short-term psychotic disorder known as postpartum psychosis. If the psychotic symptoms associated with this condition continue for more than a month but fewer than 6 months, the individual may be said to have schizophreniform disorder.

Schizophreniform Disorder Symptoms

Patients affected by this disorder tend to display some or all of the following symptoms:

• Alogia
• Delusions
• Catalepsy
• Hallucinations
• Catatonic or disorganized behavior
• Avolition or a lack of will or motivation
• Disorganized speech, leading to Echolalia
• Aphasia or an impaired or reduced speech
• Primitive or bizarre, socially inappropriate behavior
• Asociality or a lack of motivation to form relationships
• Anhedonia or an inability to feel or experience pleasure
• Disorganized speech that results from a formal thought disorder
• Flattening or blunting affect, i.e. an inability to experience or feel a broad range of emotions

Patients of this disorder may also exhibit the following features:

• Psychosis
• Hypoactivity
• Hyperactivity
• Euphoric moods
• Depressed moods
• Guilt or Obsession
• Learning problems
• Sexually Deviant Behavior
• Somatic or sexual dysfunctions
• Odd, eccentric or a suspicious personality
• Anxious, fearful or a dependent personality
• Dramatic, erratic or an antisocial personality

Schizophreniform Disorder and Schizophrenia

The symptoms of Schizophreniform Disorder are similar to that of schizophrenia and may include:

• Hallucinations
• Delusions
• Catatonic behavior
• Disorganized speech
• Social withdrawal

Although impairment in occupational, social and academic functioning is needed for a diagnosis of schizophrenia, an individual having schizophreniform disorder may or may not have his or her level of functioning affected. While onset of symptoms associated with schizophrenia is generally gradual and takes place over several months or years, onset of the schizophreniform disorder signs can be quite rapid.

Schizophreniform Disorder Diagnostic Criteria

The Diagnostic and Statistical Manual of Mental Disorders or DSM-IV-TR has specified the criteria to diagnose whether or not a person is having this disorder. The various features of these diagnostic criteria are mentioned below:

Criterion A

A patient should have two or more of the following symptoms, both present for a major portion of the time during a one-month period. Successful treatment might also render this duration less than a month.

• Delusions
• Hallucinations
• Grossly disorganized, catatonic behavior
• Negative symptoms, such as alogia, avolition or affective flattening
• Disorganized speech, characterized by frequent incoherence or derailment

Only 1 Criterion A symptom needs to be there if a patient is having bizarre delusions or if the hallucinations are comprised of a voice that keeps up one running commentary on the thoughts or behavior of an individual or if two or more voices keeps on conversing among themselves.

Criterion B

The possibility of mood disorder and schizoaffective disorder having psychotic aspects are ruled out. This happens due to either of the following reasons:

• If no cases of majorly depressive, manic or any mixed episodes have taken place concurrently with any active phase symptoms; or
• If the mood episodes have taken place during the active phase symptoms, and the total duration for both has been brief when compared to the duration of active as well as the residual periods.

Criterion C

The disturbances are not caused by any direct physiological influence of a substance, such as a drug, a medication or some general medical condition.

Criterion D

An episode of this disorder consisting of active, prodromal and residual phases lasting for at least a month but for less than six months can comprise a diagnosis of this disorder. Diagnosis is qualified as “provisional” when it has to be made without further waiting for recovery.

The following prognostic features should also be specified while determining the diagnosis of schizophreniform disorder:

• Without the good prognostic features;
• With the good prognostic features as illustrated by two or more of these following aspects:

1. Onset of the prominent psychotic signs within four weeks of first noticeable changes in usual behavior patterns or general functioning;
2. Perplexity or confusion at the peak of a psychotic episode;
3. Excellent premorbid social as well as occupational functioning in absence of any blunted or flat affects

Schizophreniform Disorder Diagnosis

If the signs and symptoms of this disorder are present, a doctor is likely to conduct a thorough examination of medical history as well as the physical health of patients. As there are no such specific tests to diagnose this condition, various tests such as blood work or brain imaging by MRI scans may be used to rule out the possibility of any physical illness as being responsible for the symptoms.

In case there are no definite physical reasons for the symptoms, a doctor may refer the individual to a psychologist or a psychiatrist for the diagnosis and treatment of the mental condition. Mental health experts use specially designed interviews and assessment tools for checking whether or not a person is having any psychotic disorder. Schizophreniform Disorder is conclusively diagnosed if an individual has got the characteristic symptoms for less than 6 months.

Schizophreniform Disorder Differential Diagnosis

There are a number of mental conditions that are similar to Schizophreniform disorder in relation to its characteristic signs and symptoms. Hence, while determining the diagnosis of this disorder, a medical team should differentiate it from such similar conditions in order to facilitate optimum management of the disease. The differential diagnoses of Schizophreniform disorder include conditions like:

• Brain tumor
• Encephalitis
• Schizophrenia
• Bipolar disorder
• Substance abuse
• Metabolic disorders
• Endocrine disorders
• Brief Psychotic Disorder
• Schizoaffective disorder
• Partial complex seizures
• Mood disorder along with psychotic features

Schizophreniform Disorder Treatment

Schizophreniform disorder is treated by using various forms of treatment measures, such as psychotherapy, pharmacotherapy, as well as various types of psychosocial as well as educational interventions. Pharmacotherapy is the most widely used modality of treatment as the psychiatric medications can promptly act to reduce severity of the symptoms as well as shorten their duration.

Medications that are commonly used to treat this disorder are more or less the same as the ones used for curing schizophrenia, with atypical antipsychotics such as olanzapine, risperidone, ziprasidone and quetiapine being the primary drugs of choice. Patients who show no improvements to initial treatment with a certain atypical antipsychotic may benefit with a change in drugs to another atypical antipsychotic, or additional doses of mood stabilizers like lithium or anticonvulsant drugs. The sufferer may also be switched over to some typical antipsychotic drug.

Patients of this disorder can be treated in an inpatient, outpatient, and/or partial hospitalization settings. While selecting the setting of treatment, the primary goals are to reduce the psychosocial consequences to minimum and maintain the safety of the patient/s as well as others around them. While the necessity to promptly stabilize the symptoms of the patient almost always exists, there is also the consideration of the severity of symptoms, the family’s support, as well as perceived probability of compliance with an outpatient treatment can be instrumental in determining if stabilization can take place in outpatient setting. Patients receiving inpatient treatment are likely to benefit from structured intermediate environment like a sub-acute unit, a step-down unit, a partial hospital, or a day of hospitalization during initial phases of getting reacquainted with the community.

Electroconvulsive therapy might be used to treat brief episodes of reactive psychoses, although care should be taken to control possible exacerbations of the psychotic symptoms. With progression of improvement during treatment, the patient may also be taught problem-solving techniques, coping skills, psycho-educational approaches, occupational therapy as well as vocational assessments which frequently prove to be very effective both for the patients as well as their families. More or less all forms of individual psychotherapeutic measures are employed in treatment of this disorder; except for the insight-oriented therapies as the patients frequently suffer from limited insight due to their illness.

As this disorder has a rapid onset of various severe symptoms, the patients are occasionally in denial of their condition, which also limits the effectiveness of various insight-oriented therapies. The patient may also be given supportive forms of psychotherapeutic treatments such as cognitive behavioral therapy, interpersonal psychotherapy and supportive psychotherapy which work well for such individuals. Group psychotherapy is commonly not intended for patients of this disorder as the patients might find themselves distressed by observing the symptoms of sufferers who have more advanced psychotic conditions.

Schizophreniform Disorder Prognosis

Those having Schizophreniform disorder generally recover within 6 months. However, if the symptoms of sufferers do not show any improvement after 6 months, the condition is most likely to have progressed to Schizophrenia which is a type of lifelong illness. The American Psychiatric Association reports that nearly ²/₃^rd of all people having this disorder eventually develop Schizophrenia at one time or another.

Schizophreniform Disorder Prevention

There are no definite ways to prevent the development of this disorder. However, an early diagnosis followed by appropriate treatment can make things easier for the patient as well as his or her family and friends.

References:

http://en.wikipedia.org/wiki/Schizophreniform_disorder

http://www.webmd.com/schizophrenia/guide/mental-health-schizophreniform-disorder

http://www.health.am/psy/schizophreniform-disorder/

http://www.minddisorders.com/Py-Z/Schizophreniform-disorder.html

Sandhoff Disease is a lysosomal, hereditary, lipid storage disorder that is caused by an inherited deficiency to produce the functional beta-hexosaminidases A and B.

The disease is also known by several other names, such as:

• Sandhoff-Jatzkewitz disease
• Hexosaminidase A and B deficiency
• Variant 0 of GM2-Gangliosidosis
• Type II GM2 gangliosidosis
• Beta Hex Deficiency

Sandhoff Disease Epidemiology

This is a rare group of disorders that is known to affect nearly 3.22 individuals in per million of non-Jewish newborns, compared to 1 in per million of Ashkenazi Jewish people. This is in contrast to the figures of Tay-Sachs disease, which is very similar to Sandhoff Disease but is more prevalent in the Jewish community. Higher populations have been found to be affected in places like Argentina, Cyprus, Portugal and Lebanon. In the USA, people of an Italian ancestry are more prone to carry the mutated gene that is responsible for this disease. Consanguinity (kinship of blood) increases the risk of this disorder as it is inherited in an autosomal recessive pattern. Both boys and girls are found to be equally affected by this condition.

Sandhoff Disease Types

Sandhoff disease can be classified into 3 types, based on the age of the onset of symptoms as well as their severity.

Classic Infantile Form

In this form of the disease, the symptoms first appear when the child is anywhere between two to nine months of age. This is the most severe form of the disease, and a person affected by inevitably dies before the age of 3. It is also the most common form of all Sandhoff diseases. Infants with this disorder generally appear normal until they are about three to six months old, after which the rate of development slows down and the muscles that are used for movement gradually weaken. Loss of motor skills, like turning over, crawling and sitting can also be seen. With further progression of the disease, affected infants may suffer from:

• Seizures
• Mental retardation
• Vision loss
• Hearing loss
• Paralysis

Cherry-red spot, an eye abnormality can also develop in these patients. Organomegaly (enlarged organs) or bone abnormalities may be seen as well in these infants.

Juvenile Form

In the juvenile form, the symptoms can begin to show themselves between the ages of 3 and 10 years. Although a child may die before he or she reaches the age of 15, constant care might make it possible for the boy or girl to live longer.

Adult Onset Form

The adult onset form commences in much older individuals and generally affects their motor functions. It is however not yet known whether Sandhoff disease might lead to a reduced life span.

Sandhoff Disease Causes

The disease is caused when two parents carrying the mutated gene pass it on to the offsprings. Even if both parents carry this condition in their genome, there is only a 25% probability that a child will be born with the genetic code for the disease.

Each type of this disease is caused by differences in various mutations of this genome, especially the codons on 14 exons in HEX B gene that is located within the chromosome 5, giving rise to the variation in the severities of symptoms. Difference in these codons leads to the inhibition of two enzymes that are located in lysosomes of neurons of central nervous system. The lysosomes contain several enzymes that break down the toxins and byproducts to make sure that they do not accumulate enough to hamper the functioning of the CNS.

An experimental research using restriction enzymes proved that a mutation on the chromosome 5 especially within C1214T allele led to the development of the adult onset type of Sandhoff disease. In patients having the infantile or the juvenile form of the disease, a mutation on the exon I207V from the father has been found, along with a 16-base pair deletion from the mother that can be found on 5 exons, i.e., exons 1 to 5.

Sandhoff Disease Pathophysiology

Mutations in HEXB gene gives rise to the Sandhoff disease. This gene provides the instructions for the manufacturing of a protein that is vital to the enzymes known as the beta-hexosaminidase A and the beta-hexosaminidase B. These enzymes work in the nerve cells and break down the fatty substances, the complex sugars as well as the molecules that are associated with sugars. The beta-hexosaminidase A helps in the breakdown of a fatty compound known as GM2 ganglioside. The mutations in HEXB gene disturb the activities of these enzymes, thereby preventing breakdown of the GM2 ganglioside as well as the other molecules. Due to this reason, progressive damage is caused by the resultant buildup of the GM2 ganglioside. The nerve cells are destroyed, which eventually gives rise to signs and symptoms that are associated with this disease.

Sandhoff Disease Symptoms

The beta-hexosaminidases A and B are catabolic enzymes that are required to degrade neuronal membrane components such as ganglioside GM2 and its derivative GA2, some oligosaccharides as well as glycolipid globoside in the visceral tissues. Accumulation of these substances may lead to progressive destruction of the central nervous system as well as eventual death.

The earliest signs of the classic infantile form can be seen before a baby reaches the age of 6 months. Parents notice the development of their child to be digressing. A child who had already developed the ability to crawl or sit up on his or her own will lose this power. This occurs due to the slow deterioration of muscles in a child’s body due to accumulation of GM2 gangliosides. As the body is not able to create enzymes it requires within the CNS, it is not able to break down these gangliosides and render them non-toxic. The buildup of gangliosides leads to several other symptoms, such as:

• Seizures
• Dystonia
• Deafness
• Blindness
• Myoclonus
• Pneumonia
• Floppy baby
• Mental illness
• Speech problems
• Mental retardation
• Mild visceromegaly
• Bronchopneumonia
• Respiratory problems
• Respiratory infections
• Reduced attentiveness
• Muscle/motor weakness
• Cherry red spots in one’s retina
• Inability to respond to stimulants
• Ataxia or loss of muscle coordination
• Sharp reaction to various loud noises
• Hepatosplenomegaly, or enlargement of the liver and spleen

Patients of the juvenile form may experience the following symptoms:

• Seizures
• Visual problems
• Intellectual impairment
• Progressive speech problems
• Muscle wasting such as cramps and weakness
• Gastrointestinal problems like diarrhea or constipation
• Clumsiness or coordination problems, including difficulty in walking

Patients of adult or late-onset form normally experience the symptoms of this condition during adolescence or adulthood, which may include:

• Psychosis
• Clumsiness
• Gait disturbances
• Disturbed speech
• Urinary incontinence
• Swallowing difficulties
• Progressive muscle weakness, with frequent usage of wheelchairs

Sandhoff Disease Diagnosis

The diagnosis of this disease can be confirmed by performing the following procedures:

• Urinalysis
• Enzyme assay
• Genetic testing
• Molecular analysis of the cells and tissues
• Biopsy of tissue samples taken from the liver

Couples who are planning pregnancy can undergo a DNA screening process which can help them to understand their carrier status prior to having children. However, parents who do not have a history of this disorder are also recommended to undergo a testing as over 95% of families having children affected with this disease had no previously known record of this condition, as because mutation in the HEX B gene is recessive or silent, and is often passed unnoticed from a single generation to the other. If certain parents have a negative attitude for discarding of embryos due to religion or any other reason and would not be able to benefit from a session of pre-implantation genetic diagnosis, they can go for a PEGD or PGD, i.e., pre-embryonic genetic diagnosis. PEGD involves sequencing of the genome of the embryo to make sure that the parents are not carriers of the mutation.

Sandhoff Disease Differential Diagnosis

A number of disorders show signs and symptoms which are typical of that of Sandhoff disease. Hence while trying to confirm a diagnosis of this disease; it is necessary to differentiate it from such similar appearing conditions. The differential diagnoses of Sandhoff disease include isolating its symptoms from those of conditions such as:

• Tay-Sachs disease
• Gaucher’s disease
• Friedreich’s ataxia
• Hurler’s syndrome
• Motor skills disorder
• Niemann-Pick disease
• The mucopolysaccharidoses

Sandhoff Disease Treatment

At present, Sandhoff disease neither has any standard mode of treatment nor any cure. People suffering from this disorder needs to be given proper nutrition, hydration, as well as maintain the clear airways. The patients might also be treated with anticonvulsant medications that will help to manage seizures or reduce some of the other symptoms that accompany this disease. Medications for treating respiratory infections can also be prescribed for these patients. Individuals having this disorder should stick to a precise diet that consists of only purée foods because of difficulties in swallowing. The patients should be kept under constant surveillance as they can suffer from aspirations or an inability to change from passageway to the lungs versus the stomach which can lead to the causation of bronchopneumonia. Sufferers might find it difficult to cough and naturally, must go through a treatment to shakeup the body to get rid of mucus from lining of the lungs.

Sandhoff Disease Complications

Patients may frequently suffer from complications relating to breathing difficulties and infections.

Sandhoff Disease Prognosis

Generally the earlier the onset of symptoms is, the worse is the outcome of the disease. The outcome for all 3 forms of the disease is bleak, with most of the patients dying in childhood. Neonates might appear normal but an increasing motor weakness can be seen by the time the child reaches the age of 6 months. Losing swallowing reflex will render the child even more vulnerable to aspirations and chest infections. Death commonly occurs by the time the child reaches the age of about 4 years.

Sandhoff Disease Prevention

Parents having a history of this disease in their genetic lineup should opt for a carrier status test and a prenatal diagnosis to evaluate their chances of having a healthy baby.

Sandhoff Disease Pictures

The following images show the physical appearance of individuals who are affected by this condition.

Picture 1 –  Sandhoff Disease

Picture 2 - Sandhoff Disease Image

References:

http://en.wikipedia.org/wiki/Sandhoff_disease

http://www.patient.co.uk/doctor/Beta-Hex-Deficiency.htm

http://www.ninds.nih.gov/disorders/sandhoff/sandhoff.htm

http://ghr.nlm.nih.gov/condition/sandhoff-disease

https://www.labcorp.com/wps/wcm/connect/IntGeneticsLib/integratedgenetics/resources/diseases/sandhoff+disease?Sandhoff%20Disease

It is a condition that is marked by the fear of dentistry or dentists. Many people across the world experience anxiety or terror when they think of visiting a dentist. This anxiety may range from a mild uneasiness to acute panic. When an individual resists going to the dentist in spite of having intense pain that needs urgent treatment, he or she is said to be having Odontophobia.

The disorder is also known by a number of other names, such as:

• Dental fear
• Dental phobia
• Dentist phobia
• Dentophobia
• Dental anxiety

Odontophobia Epidemiology

Nearly 75% of adults have some form of Odontophobia, out of which almost 6% have deep dental phobia. Around 15% to 20% of people around the world are diagnosed to have this condition.

Odontophobia Symptoms

The nature of the phobia might vary from one person to another. Some individuals feel an intense sense of doom when they hear the sounds of the drill, while others might panic at the very thought of having needles in the sensitive portions within the mouth. There are also others who are afraid of losing control and some individuals might panic as they associate dentistry with tooth pain.

Dental phobias normally develop from childhood; a traumatic experience might have left an individual with a sensation of anxiety regarding dentistry. However, it is interesting to note that if the first visit at the dentist’s chamber is associated with a positive experience or memory, regardless of the fact whether it was traumatic or not, an individual will develop a sense of immunity from any kind of dental phobia. This form of psychological immunity is known as “latent inhibition.”

Odontophobia Causes

An individual might develop a fear of dentists due to various factors. These include:

• Traumatic experiences while visiting a dentist during the past or in early childhood
• Fear or embarrassment of being teased about dental hygiene
• Fear of shapes and methods of usage of surgical instruments that are used by dentists
• Apprehension associated with losing control or a sense of helplessness while visiting a dentist
• Experiencing pain caused by a tooth extraction during an earlier visit to the dentist
• Fear of pain associated with dentistry and dentist treatment, which generally develops after skipping some routine visits
• Secret fear of cold, insensitive behavior of medical team as well as unprofessional approach of the treatment;
• Fear of dentistry possibly instilled by parents, loved ones or friends this fear in an individual
• A history of some form of physical, mental, emotional or sexual abuse in life, which might manifest itself as a dental phobia
• Negative portrayal of dentists and dentistry in the mass media and/or cartoons, which can lead many people to develop negative views and ideas on dentistry
• Previous traumatic experiences in some non-dental context; for example, smell of antiseptics or the sight of white coats, which is a reason why many dentists nowadays choose to dress up in less “threatening” apparel.

Odontophobia Diagnosis

An individual can be said to be suffering from Odontophobia if he or she answers ‘yes’ to the majority of the following questions:

• Have you missed appointments or avoided dental or oral medical treatment due to your fear?
• Do you experience an intense, overwhelming sense of fear when you imagine yourself attending a dentist’s chamber?
• Does the sound of a dental drill cause a high sense of panic and anxiety in you?
• Are you suffering from dental pain for a long time and yet have postponed visits to the dentist because of a fear of dentistry?
• Are you having a fear of dentists and all things related to dentistry for quite some time now, maybe after a difficult childhood experience with relation to dentists?

Phobia of dental treatment is sometimes diagnosed by using an instrument to measure fear such as the Modified Dental Anxiety Scale or the Corah’s Dental Anxiety Scale.

Odontophobia Treatment

Odontophobia or dental anxiety is often treated by using a combination of pharmacological and behavioral techniques. A number of dedicated dental fear clinics employ both experts on psychology and dentistry to educate people on this subject and teach them how to manage and reduce their apprehension of dental treatment. The goal of treatment is to provide people with necessary fear management skills that will allow them to have regular dental care without any fear or anxiety. Many patients having dental fear might be treated successfully by combining a “look, see and do” treatment with gentle dentistry. Generally people fear what they do not understand and they also logically not like experiencing pain. If a man or a woman had one or more difficult experiences in the past relating to dentistry, he or she is likely to be fearful of dentists. In such cases, they should be treated with support. Non-graphic photographs that are taken at the pre-operative, intra-operative and post-operative stages can explain an individual of the necessary steps associated with dentistry. Pharmacological management may involve anti-anxiety medications which can be taken orally and/or intravenously. They may also be administered with the use of Nitrous Oxide or laughing gas. It is also important to be very gentle while giving the anesthetic injection. A novocaine time of 5 to 15 minutes can be used to anesthetize the operative area before beginning the actual treatment.

Behavioral Therapy Techniques

Behavioral techniques to get rid of Odontophobia may include positive reinforcement, use of non-threatening speech, as well as tell-show-do methods. Tell-show-do technique was developed originally for pediatric patients, but it can also be employed to treat nervous adult patients. This technique requires doctors in charge to explain dental procedures in easy language, which is then followed by giving demonstrations of sights, smells, sounds and tactile aspects related to the procedure in non-threatening ways. This is finally followed by actual procedure.

Other specialized behavioral techniques might include teaching relaxation techniques like diaphragmatic breathing to patients as well as progressive muscle relaxation and also cognitive or more thought-based procedures like guided imagery and cognitive reconstructing. Both cognitive and relaxation strategies have proven to be significantly effective in reducing fear. A behavioral technique known as systematic desensitization is used in psychology to relieve phobias and various anxiety-related disorders. This is also sometimes referred to as gradual exposure or graduated exposure therapy. A patient who is afraid of dental injections can first be taught relaxation techniques, after which the feared object, which in this case is the needle or the syringe, is introduced to the patient. The sufferer is encouraged to manage his or her fear by using relaxation skills taught at the first stage. Gradually in this way, the patient reaches the stage where he or she can receive dental injections with little or no fear. Cognitive restructuring is useful as an effective alternative to treat deep rooted feelings of intense Odontophobia.

Apart from the methods used to treat an Odontophobic patient, the interpersonal relationship between the doctor and the patient is also an essential factor in determining the outcome of the treatment. A warm interaction between the two can go a long way in generating an anxiety-free environment where a patient can recover more quickly. The environmental surroundings where the patient is being treated also plays a fundamental role in determining the outcome of treatment. It is important to get rid of smells traditionally associated to dentistry, to have the dental team wear non-clinical clothes, or have music in background as these can help to replace stimuli which can generate feelings of fear. Some anxious patients respond well to obvious distraction techniques like watching movies, listening to music, or even having virtual reality headsets during ongoing medical treatment.

Pharmacological Therapy Techniques

Pharmacological techniques for managing dental fear might range from the use of mild sedatives to the use of general anesthesia. They are frequently used in combination with behavioral techniques. A common anti-anxiety medication used in therapy is nitrous oxide or laughing gas. It is inhaled through a mark which causes sensations of relaxation and also dissociation. Benzodiazepine medications such as alprazolam (Xanax), temazepam (Restoril), triazolam (Halcion) or diazepam (Valium) can be prescribed as oral sedatives. Although these medications can make people drowsy and calmer during dental treatment, patients can still maintain their consciousness and communicate with dental staff. Intravenous sedations can be administered in the sufferers’ hands or arms. For this purpose, IV sedation or conscious sedation can be used as well as general anesthesia. In IV sedation, a patient can breathe on his or her own and can interact with the dentist, while the dentist monitors the patient’s heart rate and breathing. In general anesthesia, patients are even more deeply sedated, unable to breathe automatically and cannot respond to physical or verbal prompts.

Self help along with peer support

There are a number of online communities and forums that focus in helping individuals to face their fear and receive dental care successfully. Research on these communities has proven that many individuals do benefit from therapies offered by online support groups catering to dental anxiety. Dental Fear Central is one such notable online forum related to Odontophobia.

Dental Fear and Children

Although the terms Odontophobia and Dental fear are widely used to describe dental nervousness in adults, this fear is also quite strong in children. Dental anxiety in young children and adolescents ranges between 5.7% and 19%. Cognitive Behavior Therapy (CBT) is used to treat children having dentistry-related phobias.

References:

http://www.allaboutcounseling.com/library/dental-phobia-dentophobia-odontophobia/

http://dentalproblems.ygoy.com/2009/11/18/what-is-odontophobia/

http://en.wikipedia.org/wiki/Dental_fear

http://www.anxietyuk.org.uk/about-anxiety/anxiety-disorders/dental-phobia-odontophobia/

It is a type of hypertension without any identifiable cause. The most commonly occurring variant of hypertension, it occurs in 95% of all hypertensive patients. The condition usually tends to be familial or genetic in nature, and is most likely caused by a combination of environmental and hereditary factors. Essential hypertension can effectively increase the risk of cardiac, cerebral and kidney difficulties.

The disorder is also referred to as idiopathic hypertension and/or primary hypertension.

Essential Hypertension Epidemiology

More than a billion people throughout the world are affected by this disease. It can be found widely affecting people in both developed as well as underdeveloped countries. However, the rate of occurrence might vary significantly from one region to another. In India, only 3.4% of men and 6.8% of women are affected by this disorder, whereas in Poland, the figures read 68.9% for men and 72.5% for women. By 2004, the incidence rate for essential hypertension in the US reached to 29%. It further went on to reach 34% by 2006, while African American adults had a peak incidence of 44% at the same time. The condition is more prevalently seen in Native American and black population and less frequently observed in Mexican Americans and whites. It generally affects more men or people belonging to the lower socioeconomic group.

Essential hypertension is also prevalen in young children, preadolescents and adolescents.

Essential Hypertension Classification

Based on the systolic and diastolic pressures, blood pressure patients have been classified into the following subtypes:

• Normal blood pressure (90 to 119 mmHg systolic pressure and 60 to 79 diastolic pressure)
• Prehypertension (120 to 139 mmHg systolic pressure and 81 to 89 diastolic pressure)
• Stage 1 Hypertension (140 to 159 mmHg systolic pressure and 90 to 99 diastolic pressure)
• Stage 2 Hypertension (systolic pressure greater or equal to 160 mmHg and diastolic pressure greater or equal to 100 mmHg)
• Isolated systolic hypertension (systolic pressure greater or equal to 140 mmHg and diastolic pressure less than 90 mmHg)

Essential Hypertension Causes

By definition, Essential hypertension has no definite cause. However, genetic predispositions as well as a number of environmental factors are believed to be responsible for the causation of this disorder.

Essential Hypertension Risk Factors

A wide array of factors can lead to the development of Essential hypertension. The etiology of this condition can differ greatly amongst individuals within a wider population. Although no definite cause has been identified that can give rise to this condition, a number of risk factors that increases the propensity of essential hypertension have been identified.

Genetic factors can greatly increase the risks of development of this disorder. More than fifty genes that might contribute to hypertension have been identified, and it is believed that numerous genetic defects exhibit raised blood pressure as an essential phenotypic expression. Another opinion is that essential hypertension might occur as a result of single gene mutations that are inherited on Mendelian basis.

Essential hypertension is 4 times more prevalent in black people as compared to Caucasians. It accelerates much quicker and has got a high mortality rate among these people.

Hypertension can be caused by increasing age, and in such cases it is most likely caused by multiple factors. One mechanism involves reduced vascular compliance caused by stiffening of arteries; it can be caused by isolated systolic hypertension accompanied by widened pulse pressure. There is a relation between increased age and reduced glomerular filtration rate, which results in decreased sodium excretion efficiency. Certain diseases like capillary rarefaction and renal microvascular disease might lead to reduced sodium excretion.

Obesity can greatly increase the chances of hypertension. More than 85% cases of essential hypertension are caused by Body Mass Index (BMI) greater than 25.

Other important risk factors include:

• Potassium
• Alcoholism
• Renin elevation
• Diabetes Mellitus
• Sodium sensitivity
• Cigarette smoking
• Vitamin D deficiency
• Stress or anxiousness
• Hyperinsulinemia and/or insulin resistance

Essential Hypertension Pathophysiology

Essential hypertension is normally characterized by persistent and significant elevations in the arterial pressure. It is a multifactorial condition that might involve functional abnormalities of heart pump, blood vessels and kidneys. Long term and short term regulation of the arterial pressure is affected by changes in the cardiac functions, the renal control processes of the plasma electrolytes and the volume as well as peripheral vascular resistance. Increases in heart rate as well as stroke volume can result in increased cardiac output which could contribute to an increase in the arterial pressure, especially in the young individuals. Vascular endothelial cell dysfunction might result in the reduction of endothelium-derived relaxing factors like prostacyclin, nitric oxide, and the endothelium-derived hyperpolarizing factor. Alternatively, it can increase the production of the contracting factors such as thromboxane A2 and endothelin-1. Increased activity of the signaling pathways of the vascular smooth muscle contractions like protein kinase C, [Ca(2+)]i, mitogen-activated protein kinase, as well as Rho kinase could cause enhanced vasoconstriction. Excessive vasoconstriction and decreased vascular relaxation can significantly increase the arterial pressure and peripheral vascular resistance over time, mainly with increase in age. Alterations in the body fluid regulation caused by the kidneys might lead to salt/water retention, increased plasma volume, as well as increased cardiac output. Activation of renin-angiotensin system can increase levels of angiotensin 2 in the plasma that can cause generalized vasoconstriction, or localized renal salt/water retention. Individual alterations in the vascular, cardiac, or renal functions rarely occur separately and even if it does, it might lead to moderate to mild increase in arterial pressure. A combination of changes in the renal, cardiac and vascular functions is more common and often associated with a pathologic increase in the arterial pressure as well as established hypertension.

Essential Hypertension Symptoms

Essential Hypertension is an asymptomatic condition in most cases. The condition normally gets detected when patients visit a doctor or healthcare provider for a regular checkup. As there are no definite symptoms, people might develop conditions such as heart diseases and renal abnormalities without even knowing they have got high blood pressure. In case a person develops symptoms such as nausea, confusion, vomiting, severe headache, nosebleeds or changes in vision, he or she may have a severely dangerous form of essential hypertension known as malignant hypertension.

Essential Hypertension Diagnosis

The diagnosis for Essential hypertension is mainly carried out on the basis of a persistent high blood pressure. Generally, this requires three separate sphygmomanometer measurements with the interval of a month. Initial assessment of a hypertensive patient should include a thorough physical examination as well as evaluation of personal and familial history. In many countries, the present mode of diagnosis involve conducting a session of raised clinic reading and then following it up with an ambulatory measurement, or else carrying out a 7-day long home blood pressure monitoring.

Other tests conducted to diagnose Essential hypertension include:

• Chest X-rays
• Echocardiogram
• Serum creatinine levels
• Electrocardiogram (EKG/ECG)
• Glomerular filtration rate or eGFR

Predictive equations like Modification of Diet in Renal Disease (MDRD) formula is used to evaluate the results of glomerular filtration rate tests. Tests are conducted to see if a person has diabetes or high cholesterol levels as they may contribute significantly to the development of heart diseases. Additional tests are conducted to see if a person is suffering from difficulties related to the heart, kidneys or eyes.

Essential Hypertension Differential Diagnosis

There are a number of health conditions which show signs and symptoms similar to that of essential hypertension. Hence while determining the diagnosis of this form of hypertension; it should be differentiated from all these similar appearing conditions. The differential diagnoses for essential hypertension include conditions such as:

• Sleep Apnea
• Thyroid Storm
• Graves Disease
• Ischemic Stroke
• Acute vasculitis
• Hyperthyroidism
• Anxiety Disorders
• Pulmonary Edema
• Hemorrhagic Stroke
• Coarctation of aorta
• Pheochromocytoma
• Serotonin syndrome
• Myocardial Infarction
• Phencyclidine Toxicity
• Amphetamine Toxicity
• Congestive Heart Failure
• Cocaine Cardiomyopathy
• Primary Hyperaldosteronism
• Hypertrophic Cardiomyopathy

Essential Hypertension Treatment

The disease can be treated by various medications and by certain lifestyle changes. These are discussed below in details.

Lifestyle changes

The condition is treated by making certain lifestyle changes that can bring down the pressure and negate all chances of pressure increase. These include changes in one’s diet, physical exercising and loss of weight. These steps have proven themselves to be significantly effective in bringing down one’s pressure. Even if the hypertension is quite critical enough to advocate immediate usage of medications, changing one’s lifestyle is still recommended along with medications.

The patients should stick to a low sodium diet. A low sodium diet is very effective in bringing down the blood pressure, in both patients of essential hypertension as well as people having normal blood pressure. The DASH diet, recommended by National Heart, Lung, and Blood Institute is also a potent blood pressure lowering mechanism. The diet involves rich amounts of whole grains, nuts, poultry, fishes, fruits and vegetables. It is especially rich in minerals like calcium, magnesium and potassium as well as protein. Other programs used to minimize psychological stress include biofeedback, meditation and relaxation techniques.

Medications

Various types of medications, collectively known as antihypertensive drugs can be used for treating hypertension. The patient’s cardiovascular history and also blood pressure readings should be considered before administering any of these medications. This is true even with people having low or mild hypertension (benign essential hypertension). The Joint National Committee on High Blood Pressure or JNC-7 has recommended that while treating a patient with antihypertensive drugs, the physician should not only monitor the patient’s response to therapy but also check for any adverse side effects that might result from the medications. Reduction of blood pressure by around 5 mmHg can minimize the risks of stroke by nearly 34%, of an ischemic heart disease by around 21% as well as reduce the propensity of conditions such as of heart failure, dementia, and rate of mortality from cardiovascular diseases. The main goal of treatment must be to reduce the blood pressure lower than the level of 140/90 mmHg for the majority of patients, and even lower for patients of diabetes and/or kidney disease.

The various drugs and medications that can be used to treat essential hypertension include the following:

• Vasodilators
• Beta Blockers
• Alpha Blockers
• Renin inhibitors
• Alpha-beta blockers
• Central acting agents
• Calcium channel blockers or CCB
• Low dose thiazide-based diuretics
• Angiotensin II receptor blockers or ARBs
• Angiotensin converting enzyme inhibitors or ACE-I

The various types of drugs meant to cure essential hypertension can be combined in the following ways:

• Beta-blockers with diuretics
• Calcium channel blockers with diuretics
• Renin–angiotensin system inhibitors with diuretics
• Beta-blockers with dihydropyridine calcium channel blockers
• Renin–angiotensin system inhibitors with calcium channel blockers
• Either diltiazem or verapamil with dihydropyridine calcium channel blockers

Unacceptable drug combinations include:

• Beta-blockers with centrally acting agents
• Beta-blockers with renin–angiotensin system blockers
• Non-dihydropyridine calcium blockers like verapamil or diltiazem with beta-blockers
• Dual renin–angiotensin system blockades, such as angiotensin converting enzyme inhibitor with angiotensin receptor blocker
• An ACE-inhibitor or an angiotensin II–receptor antagonist, an NSAID and a diuretic

Essential Hypertension Complications

A number of complications might arise from this disease, which include the following:

• Strokes
• Aneurysms
• Heart attack
• Aortic bleeding
• Atherosclerosis
• Metabolic problems
• Cerebral hemorrhages
• Peripheral arterial disease
• Trouble with memory and/or understanding
• Torn, narrowed or thickened blood vessels of the eyes
• Weakened and/or narrowed blood vessels in the kidneys

Essential Hypertension in Pregnancy

Essential hypertension can develop in almost 8% to 10% of pregnant women. Most women having hypertension during pregnancy have got pre-existing hypertension. However, high blood pressure during pregnancy might be the first indications of pre-eclampsia. Pre-eclampsia is a serious pregnancy-related condition occurring in 5% of pregnant women and causes 16% of all cases of maternal deaths globally. It is characterized by protein in urine and increased blood pressure. It also increases risks of perinatal mortality. It can sometimes progress to eclampsia, a life-threatening condition that can cause vision loss, convulsions or seizures, cerebral edema, pulmonary edema, renal failure, as well as disseminated intravascular coagulation.

Essential Hypertension Prognosis

Although death may occur in many cases where conditions associated with essential hypertension progresses to a critical stage, generally the prognosis for this condition is good with appropriate medications and lifestyle changes.

Essential Hypertension Prevention

There are certain guidelines that one should follow to maintain a low blood pressure. People who are above 18 years of age should get their blood pressure checked regularly. If the family members of a patient are genetically predisposed to develop raised levels of blood pressure, he or she should discuss this with a doctor and follow steps that are required to maintain low blood pressure levels. Lifestyle changes such as quitting smoking can bring down raised levels of blood pressure.

References:

http://www.mayoclinic.com/health/high-blood-pressure/DS00100

http://health.nytimes.com/health/guides/disease/essential-hypertension/overview.html

http://www.ncbi.nlm.nih.gov/pubmed/11785064

http://en.wikipedia.org/wiki/Essential_hypertension

http://oxfordmedicine.com/view/10.1093/med/9780199204854.001.1/med-9780199204854-chapter-161701

It is a health condition characterized by the onset of numerous benign tumors or schwannomas that develop from the cells that are associated with the nerves making up the peripheral nervous system. These cells are called Schwann cells and they surround majority of nerve cells in the body of an individual. It is classified as a type of neurofibromatosis (NF) which is clinically and genetically distinct from both NF1 and NF2.

The condition has only been recently recognized and comprises of neurological complications apart from the schwannomas as well.

Schwannomatosis Prevalence

This is a very rare disorder, occurring in only one out of every 40000 individuals. The inherited form of the condition occurs in only about 15% of cases.

Schwannomatosis Causes

The Schwannomatosis gene called SMARCB1 is a type of tumor suppressor gene which regulates cell life cycle, growth as well as differentiation. One inactivating germline mutation in the exon 1 of the SMARCB1 gene has been found to occur in patients of schwannomatosis, which is located on the chromosome 22, just a short distance away from NF2 gene. Molecular analysis of NF2 gene in these patients have shown the presence of several inactivating mutations in tumor cells, but absence of germline mutations which are found in the NF2 patients.

A process that involves both SMARCB1 and the NF2 genes might be held responsible for the culmination of the disease as the tumor analysis of the schwannomas indicate presence of the inactivating mutations in both these genes. However, the involvement of one unidentified schwannomatosis gene is speculated in the majority of the instances. This is because no SMARCB1 germinal mutations were detected in a study involving patients of familial schwannomatosis. Some schwannomatosis patients do not show any mutations of SMARCB1 or NF2 genes. Also, many patients display somatic mosaicism for the mutations in SMARCB1 or NF2 genes. This indicates that some of the somatic cells have this mutation, while others do not, in the same individual. Ultimately, tumorigenesis of schwannomas does not solely depend on one gene locus alone. As far as the NF2 and SMARCB1 genes are concerned, it is essential to understand the difference between the constitutional mutations and the somatic mutations. The constitutional mutations are inactivation events that often involve small mutations, like point mutations and the deletion or insertion of the single base pairs. The somatic mutations are second mutations that develop and may involve another small mutation or loss of remaining gene allele. Schwannomas from one patient show identical constitutional mutations but distinct somatic mutations. Also, the constitutional mutation might be present in a non-tumor location.

SMARCB1 is also referred to as hSNF5, INI1 or BAF47. The SMARCB1 gene is mutated in various additional tumors such as malignant brain and/or kidney tumors in small children. The heterozygotes for the mutations in SMARCB1 gene seem to have an increased propensity to develop a form of malignant kidney tumor during early childhood. However, they might form a predisposition to develop schwannomas if the children survive till adulthood. Mutation in the exon 2 of SMARCB1 gene and/or germline deletion of SMARCB1 gene has also been found on certain occasions. Genetic analysis from the different schwannomas might indicate inactivation of both NF2 and SMARCB1 genes. Schwannomatosis is a genetic disorder although its familial occurrence is very rare.

Schwannomatosis Symptoms

The signs and symptoms exhibited by the patients often overlap with that of NF2. The clinical features of this condition are presented below:

• Schwannomas develop instead of neurofibromas which are exclusively found in neurofibromatosis Type 1.
• Multiple schwannomas are manifested throughout the body of patients or in various isolated regions.
• Schwannomas are found in the spinal, cranial and peripheral nerves.
• Patients may experience chronic pain, as well as occasional numbness, weakness and tingling sensations.
• Segmental schwannomatosis can be observed in about ¹/₃^rd of all cases, wherein the schwannomas stay limited to only one part of the patient’s body, such as the spine, a leg or an arm.
• Difficulties with urinating and/or bowel dysfunctions may be observed in many cases.
• Headaches and vision changes may develop in patients.
• Sufferers do not exhibit learning disabilities related to this disease.
• In numerous cases, patients also develop a vestibular schwannomas or acoustic neuroma. A vestibular schwannoma is a tumor on vestibular nerve of the brain. This nerve is involved in auditory abilities. Due to this reason, patients of vestibular schwannomas invariably experience loss of hearing. However, schwannomatosis patients do not experience bilateral vestibular schwannomas or vestibular schwannomas on the either sides of brain. Juvenile vestibular tumors cannot be seen either.
• The symptoms associated with this condition can sometimes be brought on by the hormonal changes like puberty and pregnancy.

Schwannomatosis Diagnosis

The following tests are conducted to see if a person is having this condition:

• CT scans
• MRI scans
• Genetic tests
• Ultrasonography
• X-Ray imaging tests

Schwannomatosis Differential Diagnosis

There are a number of conditions which show signs and symptoms similar to that of schwannomatosis. Hence while determining the diagnosis of this disease; it should be differentiated from such similar-appearing conditions. The differential diagnoses for Schwannomatosis include conditions like NF2 and multiple meningiomas.

Schwannomatosis Diagnostic Criteria

At present, this disease cannot be diagnosed prenatally or during the embryonic stage, as the gene responsible for it has not been positively identified as yet. The postnatal diagnostic criteria mention that an individual to be detected condition should be aged over 30 years and:

• Have two or more non-intradermal schwannomas, with at least one confirmed by histological studies
• Have no evidence of a vestibular tumor on imaging results produced by high-quality MRI scan
• Have no known constitutional neurofibromatosis 2 (NF2) mutation

Alternatively, an individual should have one pathologically confirmed non-vestibular schwannoma as well as a first-degree relative fitting the above criteria.

Possible additional criteria for diagnosing the disorder may include the following:

Suspected individual should be below 30 years of age and:

• Have two or more than two non-intradermal schwannomas, with at least one confirmed by histological studies
• Have no evidence of any vestibular tumor on the high quality MRI scans
• Have no known traces of constitutional NF2 mutations

Or,

The individual should be aged over 45 years, and:

• Have two or more non-intradermal schwannomas, with at least one confirmed by histological studies
• Have no symptoms of the 8th cranial nerve dysfunctions
• Have no known traces of constitutional NF2 mutations

Alternatively, the individual should have radiographic evidence of one non-vestibular schwannoma as well as a first degree relative who meets the criteria for a definite schwannomatosis.

Diagnostic Criteria for a Segmental Schwannomatosis

People who meet the above-mentioned diagnostic criteria for schwannomatosis but have their condition limited to one limb, or to five or lesser contiguous portions of the spine, are confirmed to be suffering from Segmental schwannomatosis.

Schwannomatosis Treatment

Schwannomatosis patients comprise 2.4-5% of all patients who are undergoing surgical resection for their schwannomas. It is difficult to locate schwannomas in isolated areas of the body due to their small size. Intraoperative sonography can offer great assistance in such instances by localizing the small schwannomas as well as decreasing the operative time and the extent of surgical incision. It is possible to remove the schwannomas if it is surgically feasible. Any pain associated with the tumor normally subsides after the tumor is removed. The damaged nerves and the scar tissues can occur due to surgery and the pain can pose to be a major ongoing problem. Sometimes a tumor may recur at the same spot after surgery. If surgery is not feasible, a doctor will opt for pain management. Schwannomatosis can give rise to severe, incurable pain over time. There are currently no other treatment options available for the disease other than surgery and pain management. The disorder cannot be treated by the usage of drugs. It is possible to perform gamma knife radiosurgery on the head tumors which can stop a tumor’s growth. However, its chances of success are still disputed. New, innovative methods of treating these tumors are under investigation. CyberKnife, which is manufactured by Accuray, is an interesting option. As most of the schwannomas are benign, many health experts decide to opt for the wait and watch approach, operating only if the tumor starts to give rise to adverse symptoms. Patients of this condition often have multiple tumors. So, the risks of undergoing multiple surgeries outweigh the overall benefits.

Schwannomatosis Prognosis

Although there are currently no definite modes of treatment for this condition, the pain associated with it can be managed by using surgery and medications. Surgical management is an effective way of treating the condition. Although the tumors can come back after surgery, it is still the most widely used treatment option. Regular monitoring and management of the patient’s condition can help to keep the disease under control. Life expectancy for schwannomatosis patients is normal.

Schwannomatosis Pictures

The following images can give you a clearer idea about the physical appearance of people affected by this health condition.

Picture 1 – Schwannomatosis

Picture 2 – Schwannomatosis Image

References:

http://en.wikipedia.org/wiki/Schwannomatosis

http://www.ctf.org/Learn-About-NF/Schwannomatosis.html

http://nyp.org/komansky/patient_care/centers_programs/neurofibromatosis/about_schwannomatosis.html

http://rarediseases.about.com/od/neurofibromatosis/a/schwannoma.htm

Renal Agenesis is a congenital medical condition characterized by the failure of development of one or both of the fetal kidneys.

What Happens in Renal Agenesis?

The kidneys take shape between 5th and 12th weeks of the fetal life; by 13th week they are able to produce normal urine. In babies affected by renal agenesis, either one or both the kidneys are absent, or a very little portion of the kidneys develop. This makes it difficult or impossible for the kidneys to perform their normal functions. The kidneys help in filtering waste materials and extra fluids from the blood, thereby maintaining healthy blood levels of minerals such as calcium, sodium, phosphorus, potassium, and electrolytes. They also help in maintaining healthy blood pressure as well as release hormones which are essential for bodily functions. Absence of one or both the kidneys can critically hamper the regulation of these functions. The two variants of this condition have quite different clinical courses.

Renal Agenesis Epidemiology

Unilateral renal agenesis can be seen to develop in nearly one out of every 500 live births. The bilateral form of the disorder is less common, and affects only one in every 4000 live births.

Picture 1 - Renal Agenesis

The disease is slightly more prevalent in men than in women.

Renal Agenesis Types

There are two types of this condition:

Unilateral Renal Agenesis

It occurs when one kidney is missing or malformed

Bilateral Renal Agenesis

It arises when both kidneys are missing or malformed.

Renal Agenesis Causes

The kidneys develop in three distinct stages during the fetal development. The initial structures, known as ‘pronephros,’ are gradually replaced by ‘mesonephros’ structures. At the end of the 1st trimester, the ‘metanephros’ or the fully functioning kidneys get formed which are then able to produce urine.

Renal agenesis is believed to develop during the last stages of the kidney development, when ‘metanephros’ buds are not able to mature. The exact factors responsible for this disease are not known. However, it is believed that both hereditary and environmental factors have a role to play in the development of the condition. Renal agenesis is associated with mutations in the RET or UPK3A genes.

A woman having untreated diabetes is also at an increased risk of giving birth to a baby having renal agenesis, among various other birth defects.

Renal Agenesis Symptoms

A number of signs and symptoms are associated with this condition. These include:

• Sharp nose
• Sirenomelia
• Dry loose skin
• Receding chin
• Wide-set eyes
• Pneumothorax
• Breech delivery
• Premature labor
• Low birth weight
• Potter Syndrome
• Oligohydramnios
• Adrenal agenesis
• VACTERL association
• Single umbilical artery
• Underdeveloped lungs
• Congenital heart diseases
• Gastrointestinal anomalies
• Absence of urinary bladder
• Seminal vesicle cysts in men
• Mullerian duct abnormalities
• Absence of ipsilateral renal artery
• Malformations of the hands and legs
• Gap in esophagus or esophageal atresia
• Large low-set ears that lacks ear cartilage
• Branchio-oto-renal dysplasia or BOR syndrome
• Absence of rectum and anus or anorectal atresia
• Prominent folding around inner corner of the eyes
• Compensatory hypertrophy of contralateral or opposite kidney
• Absence of sex organ structures, like the seminal vesicles and vas deferens in males, and uterus in females

Renal Agenesis Diagnosis

A doctor should suspect a unilateral renal agenesis when only a single umbilical artery is present. A unilateral cystic kidney or a dysplastic kidney along with oligohydramnios must raise the suspicions of the unilateral renal agenesis on contralateral side. The family history of patients should also be considered while diagnosing renal agenesis. A family history that indicates renal malformations should also raise suspicion for unilateral renal agenesis. URA can be noticed in 4.5% of cases where first degree relatives are affected with the bilateral form of the disorder.

Diagnosis of the unilateral variant is conducted by examining only one kidney. A medical team should also look for the other kidney in some ectopic location including pelvis and in some rare cases – even the thorax. A newborn tends to have normal amniotic fluid volume and normal fetal bladder filling unless the only kidney that is present is also abnormal. Other associated findings include a single umbilical artery and also genital abnormalities. In males, an absence or malformations in the proximal mesonephric duct structures can be frequently noticed. Similarly, the Mullerian duct structures are either absent or abnormally formed in the females.

Other diagnostic tests can include the following:

• Antenatal ultrasounds
• Postnatal ultrasounds
• Doppler ultrasounds
• Blood pressure tests
• Urine tests
• CT scans
• MRI scans

Renal Agenesis Differential Diagnosis

A number of health conditions are manifested by signs and symptoms that are similar to that of renal agenesis. Hence, while conducting the diagnosis of Renal agenesis, it is essential to differentiate it from these similar-appearing conditions.

The differential diagnoses of this disorder include taking into account conditions such as:

• Thoracic kidney
• Interstitial cystitis
• Pelvic ectopic kidney
• Small atrophic kidney
• A previous nephrectomy
• Cross-fused renal ectopia

Renal Agenesis Associated Conditions

A number of conditions are associated with Renal Agenesis. These include the following:

• Trisomy 7
• Trisomy 10
• Trisomy 21
• Trisomy 22
• Potter’s Syndrome
• 22q11 microdeletion
• Turner syndrome
• 45X Mosaicism
• Congenital hearing loss
• Double uterus in women

Renal Agenesis Treatment

No treatment is required for patients of unilateral renal agenesis. However, the condition of sufferers should be carefully monitored to manage any complications that may arise. The kidney functions are monitored regularly by urine tests and blood pressure evaluations, which are usually done annually. The blood pressure should be maintained below 130/80 in order to prevent damage to the kidneys. Medications might be required to manage blood pressure. Angiotensin receptor blockers and angiotensin-converting enzyme (ACE) inhibitors are two forms of medications that can protect the kidney functions and reduce proteinuria. Diuretics can be employed to get rid of excess fluids and lower the blood pressure. URA patients are not required to follow any special diet. However, they should limit their daily intake of sodium to the minimum. High protein foods, alcohol and caffeine should be avoided as well. Individuals with URA should use protective gear while participating in contact sports.

Neonates who are born with the bilateral variant of renal agenesis are placed immediately in ICU. The levels of renal and respiratory abnormalities as well as problems related to other bodily functions are assessed immediately.

Treatment plans are decided upon once long term chances of survival are determined. If the child having bilateral renal agenesis has developed respiratory distress from pulmonary hypoplasia, no additional treatment needs to be carried out. If the lungs have developed sufficiently, respiratory support can be given by mechanical ventilation.

Nutritional supplication with limited sodium and fluids should be administered by using a nasogastric feeding tube. Medications such as vitamin supplementations can be employed to remedy electrolyte imbalances. Vitamin D should be given to the patient along with calcium carbonate. Growth hormones such as Genotropin, Humatrope and Nutropin can be administered to treat poor growth of bilateral renal agenesis patients.

Symptoms of anemia are treated with erythropoietin supplements like Epoetin alfa as well as iron supplements. Dialysis as well as kidney transplants might also be needed to be performed as per the condition of the patients.

Renal Agenesis Complications

The disease can give rise to a number of complications, which are listed below:

Picture 2 - Renal Agenesis Image

• Renal failure
• Hypertension
• Kidney stones
• Anhydramnios
• Nephrolithiasis
• Renal infections
• Hydronephrosis
• Oligohydramnios
• Pulmonary hypoplasia
• Urinary tract infections

Renal Agenesis Prognosis

The outcome for unilateral renal agenesis is good as long as there are no kidney injuries or diseases. Individuals suffering from the unilateral form generally lead healthy, normal lives. Avoiding injuries and practicing basic health concepts are essential in having a good quality of life. Adults with this condition have a greater chance of developing hypertension symptoms. They should consult a doctor before getting involved in contact sports.

The prognosis for bilateral renal agenesis is usually very poor. Most patients die within the first few days of their lives. The usual causes of death include acute renal failure and respiratory failure during neonatal period. If a patient survives till his or her early childhood years, chronic renal failure or chronic lung disease might be experienced. If the lungs develop sufficiently, a kidney transplant might become necessary for survival. Prognosis is improved considerably after having a kidney transplant.

References:

http://radiopaedia.org/articles/renal-agenesis

http://www.healthline.com/galecontent/renal-agenesis#definition

http://www.health.state.mn.us/divs/fh/mcshn/bd/renal.htm

http://en.wikipedia.org/wiki/Renal_agenesis

It is a genetic condition which can be passed to an individual from their parents. It causes excess growth of multiple types of benign tissue and is known as hamartomas. The most prominent feature of Cowden Syndrome is the development of small flesh colored bumps on the skin that involves a hair follicle and small wart-like growths (papillomatous papules) on the face, hands and mouth. A person with this syndrome is at a great risk of developing cancerous tumors.

The breast, thyroid and uterus are the usual regions for cancer development in Cowden Syndrome. Women are at great risk for developing benign breast conditions like:

• Papillomatosis
• Fibroadenomas
• Ductal hyperplasia
• Fibrocystic breast disease

This syndrome is related with loss-of-function mutations in PTEN, a tumor suppressor gene which results in hyperactivity of motor pathway.

Cowden Syndrome Causes

This syndrome develops from mutations in PTEN, a tumor suppressor gene which helps regulate the growth and division of cells. Mutations in this gene block the PTEN protein from regulating cell survival & division which can lead to the development of tumors. Every individual has two copies of PTEN. Tumors do not form when both the copies work properly.

Cowden Syndrome Symptoms

The symptoms can differ from one person to another. The problems that are usually seen include:

• Learning disability, autism and/or mental retardation.
• Enlarged head, due to a rare noncancerous brain tumor called Lhermitte-Duclos disease.
• Development of various types of papules or bumps on the skin- Trichilemmomas on the face and Papillomatous lesions on the face or on the mucous membranes. This might also include a cobblestone look of the tongue or gums.
• Keratoses or hard growths of skin seen on the palms of the hands or soles of the feet.
• Gastrointestinal problems, such as mixed polyposis including Hamartomas.
• Great risk of developing tumors
• Development of breast, endometrial, thyroid, kidney and colorectal cancers.
• Glycogenic acanthosis of the oesophagus.

Cowden Syndrome Diagnosis

The initial steps to diagnose this disorder are:

Genetic counseling

A genetic counselor investigates the family history of patients in details. This helps doctors to detect the signs of CS in the family.

Physical Examination

A skin check is done along with other tests.

These are followed by:

Laboratory tests

The laboratory tests that are conducted for diagnosing CS are:

• Thyroid function tests, done for goiter, Hashimoto thyroiditis, adenomas, and carcinomas. Patients of CS have a high risk of developing thyroid diseases, thus regular monitoring is required.
• Chemistry panels, which include a calcium level to screen or parathyroid disease and liver function tests to check possible hepatocellular carcinoma.
• Urinalysis, to check for protein in urine or hematuria which may indicate kidney or bladder neoplasia.
• Skin biopsy, done for the pathologic diagnosis Trichilemmomas or sclerotic fibromas.

Major Tests

Chests radiography might be done for scanning of thyroid. MRI scans of the brain may be done to check for neurological symptoms. Significant CNS symptoms like headache and focal neurologic signs may be clarified in this test. An endoscopy of the lower and upper gastrointestinal tract may be done check for hamartomas.

Other tests

There are several other methods for testing for CS. Multiple ligation-dependent probe amplification is preferred by medical experts at present. Other procedures involve:

• Semiquantitative multiplex polymerase chain reaction
• Monochromosomal hybrid analysis
• Southern blotting
• Real-time polymerase chain reaction

Cowden Syndrome Treatment

There is no definite cure for Cowden Syndrome. However, it is necessary to continue the cancer screening and tests. These tests will help identify cancer at an early stage.

Screening tests include:

• Annual history and physical examinations, monthly self-breast examinations, and baseline thyroid ultrasonography starting at the age of 18 years. It should be repeated annually.
• Annual mammography and breast MRI screening at age 30-35 years.
• Dermatologic examination, should be conducted annually.
• Endometrial ultrasonography, to be done every month in postmenopausal women.
• Clinical breast screening, to be done every 6 months starting at 25 years of age.
• Conduction of prophylactic mastectomy based on the cases.
• Blind endometrial biopsy at age of 30-35 years.
• Clinical trials should be done for renal cell cancer screening.

Surgical Care

Surgical care may be taken for the facial papules.

The treatments include:

• Chemical peels
• Surgery may be done only if it is considered to be malignant. Surgical removal may bring back keloid formation.
• Laser resurfacing

Medications

Systemic therapy with retinoids may help temporarily regulate the cutaneous lesions. Rapamycin has shown great progress in eliminating cutaneous lesions and prevention of the development of the symptoms of Cowden Syndrome. Acitretin is a retinoid that is partially effective in treating cutaneous lesions.

Cowden Syndrome Complications

The complications associated with this syndrome include the development of cancerous cases like:

• Colon cancer
• Transitional cell carcinoma of the bladder
• Insular thyroid cancer
• Osteosarcoma
• Non-Hodgkin lymphoma
• Uterus (endometrial) cancer
• Cervical carcinoma
• Lung cancer
• Acute myelogenous leukemia

This syndrome is curable if the cancer is detected at an early stage.

References:

http://www.uihealthcare.org/2column.aspx?id=22929

http://www2.mdanderson.org/app/pe/index.cfm?pageName=opendoc&docid=2190

http://en.wikipedia.org/wiki/Cowden_syndrome

http://emedicine.medscape.com/article/1093383-treatment#a1129

Delayed Sleep Phase Syndrome (DSPS) is a form of circadian rhythm sleep disorder characterized by a change in the timing of sleep, the body temperature rhythm, hormonal rhythms as well as other daily rhythms and the peak alertness period. The sleep pattern of individuals affected with DSPS is delayed by two or more hours from the desirable bedtime. This means, the patients go to sleep extremely late at night and experience great difficulty in waking up early. The condition is genetically associated with ADHD or Attention Deficit Hyperactivity Disorder.

The condition is also known as Delayed Sleep-Phase Disorder or DSPD and Delayed Sleep-Phase Type or DSPT. Dr. Elliot D. Weitzman, along with his co-workers, first described DSPD in the year 1981 at the Montefiore Medical Center.

Delayed Sleep Phase Syndrome Prevalence

The condition is highly prevalent among high-school students and college students throughout the world. DSPS can also occur in adults and can affect both men and women alike. It has an incidence rate of around 3 in 2,000.

Delayed Sleep Phase Syndrome Causes

The exact factors responsible for this disorder are not clearly known. According to researchers, it may be caused by the reaction of the body of an individual to the normal change in his or her internal clock that occurs during adolescence. This sleep disorder does not occur due to of any deliberate behavior of the patient.

It can also be triggered by certain psychological problems which cause various physical symptoms that interfere with sleeping patterns of an individual. The psychological disorders make it difficult for the nervous system to control the normal sleeping mechanism of the body.

Consuming food that can have certain allergic reactions in a person can also cause DSPS. Allergy caused by toxins like heavy metals and organic compounds can also lead to this type of sleep disorder. Excessive alcohol consumption is another possible triggering factor even though many people consider alcohol to help falling asleep. In truth, however, regularly drinking alcohol can lead to the development of DSPD.

Delayed Sleep Phase Syndrome Symptoms

People suffering from DSPD generally suffer from the following signs and symptoms:

Inability to fall asleep at conventional bedtime

Patients generally complain of insomnia as they cannot go to sleep until long after midnight.

Difficulty in waking up early in the morning

This is another common symptom experienced by the affected individuals who find it impossible to wake up in time for daily activities like school and work.

Poor Sleep

People who have other sleep disorders like Sleep Apnea along with DSPD may have poor sleep.

Concentration problems and excessive sleepiness during daytime

DSPD patients find it difficult to concentrate on anything during daytime due to the extreme drowsiness resulting from lack of sleep. The disorder can lower the academic performance of the patients because of missing school and the low concentration on studies.

Behavior problems and depression

DSPD patients often experience various psychiatric and behavior problems as well as depression because of the daytime drowsiness and inability to participate in normal daily activities like school.

Delayed Sleep Phase Syndrome Diagnosis

Doctors study the medical and family history of patients for making the diagnosis. A thorough physical examination is also performed for reviewing the symptoms of patients. Various diagnostic tests are used for diagnosing DSPS and for differentiating it from other similar conditions:

Actigraphy

In this exam, patients have to wear a small diagnostic device which tracks his or her sleep-wake pattern at home. The result of the test allows a diagnostician to determine whether or not the patient has the disorder.

Sleep diary

Sometimes, the sufferer is asked to maintain a sleep diary to log the daily sleep times and wake times so that the doctor can evaluate the sleep-wake behavior of sufferers. This helps to make the diagnosis.

Polysomnography

This is a diagnostic procedure used for confirming the diagnosis. In this test, the patient is asked to sleep in the diagnostic center. A polysomnogram is then used to monitor his or her heart rate, brain activity, eye movements, breathing function and oxygen levels all night as the patient sleeps.

Delayed Sleep Phase Syndrome Differential Diagnosis

DSPD is often misdiagnosed or dismissed as its symptoms resemble those caused by various other conditions, including:

• Primary psychiatric disorders
• Psychophysiological insomnia
• Psychiatric disorders like ADHD
• Depression
• School refusal
• Other sleep disorders

Delayed Sleep Phase Syndrome Treatment and Management

The treatment involves different non-pharmacologic approaches as well as various medications. The doctor determines the most useful treatment options depending on the age of the patient and the symptoms present.

Non-Pharmacologic Treatment

It involves:

Changing the bedtime schedule

It is important to change the regular bedtime of the patient to a more appropriate time. This helps to cure the condition by resetting the internal clock.

Advancing the internal body clock

The patient has to move the bedtime a little earlier every night in order to reach the desired bedtime. The bedtime should be moved gradually. For example, if the bedtime is set at midnight on the first night, it should be set at 11.45pm on the following night.

Chronotherapy

In this treatment option, the bedtime is delayed gradually for 1 hour or longer every two days until the patient reaches the desired bedtime. During this treatment, the patient is unable to participate in the normal social activities. So, it is advisable to try this treatment option during a vacation or school break. This treatment strategy is used because adjusting to a delayed bedtime is believed to be easier for body compared to adjusting to an earlier one.

Maintaining the new sleeping schedule

It is very important to maintain the change schedule every night for the body to get used to it. The affected children should follow the new bedtime once they reach the desired bedtime continuously for several months before allowing occasional flexibility.

Improving sleep hygiene

The doctor usually recommends the patients to avoid using stimulating substances like caffeine and tobacco near bedtime. Alcohol consumption should be avoided as well. The individuals should also maintain proper sleeping hygiene in order to cure the disorder.

Bright light therapy

In the bright light therapy, a special light-box is used for exposing the patient to very bright light for around 30 minutes every morning. This helps in resetting the circadian rhythm of the patient. In some cases, bright light exposure for a shorter period of time in evening may also be necessary.

Treatment with Medication

It includes:

Melatonin supplements

Melatonin is hormone that plays an important role in maintaining the circadian rhythm of humans. Melatonin supplements are often prescribed by doctors for adjusting the internal sleep clock of patients. The medication is taken in the afternoon or early in the evening.

Modafinil

This FDA approved drug is used for treating several sleeping disorders. Doctors often prescribe it to DSPS patients as it can help to improve their quality of life.

Trazodone

It can successfully treat the condition in elderly patients.

Home Remedies

Cannabis is an herbal remedy that can be used for adjusting the circadian rhythm of the affected individuals. According to a study, the THC or Tetrahydrocannabinol content of these plants helps to increase the melatonin production in human body. However, there is a lack of adequate research to prove the effectiveness of Cannabis in treating DSPD.

Experts have suggested Vitamin B12 to be useful in curing this type of sleeping disorder. Hence, patients are often recommended to increase their intake of Vitamin B12.

Delayed Sleep Phase Syndrome Prognosis

Treating the condition is quite difficult and patients often relapse to their pre-treatment delayed sleeping schedule within a year. In severe cases, the relapse may even occur within months or weeks. However, people with mild cases of DSPD are usually able to maintain the corrected sleeping pattern for longer periods of time.

Delayed Sleep Phase Syndrome Prevention

It is not possible to prevent DSPD as there is no way to know in advance who is going to develop the condition. However, avoiding alcohol consumption can help to prevent its progression. DSPD cannot be prevented in children who have some genetic factors resulting in the development of the disorder.

Delayed Sleep Phase Syndrome does not pose any threats to the life of patients. However, sleep deprivation can lead to various health problems. Due to this reason, it is important to get medical attention for managing the condition at an early stage. There are many forums and support groups that help the patients to cope with DSPS and lead as normal a life as possible.

References:

http://my.clevelandclinic.org/disorders/sleep_disorders/hic_delayed_sleep_phase_syndrome.aspx

http://www.mayoclinic.org/delayed-sleep-phase/treatment.html

http://www.sleepassociation.org/index.php?p=delayedsleepphasesyndrome

http://dspsinfo.tripod.com/

http://www.stanford.edu/~dement/delayed.html

http://www.soundsleeping.org/delayed-sleep-phase-syndrome/treatment.htm