Prader-Willi syndrome which is also abbreviated as the PWS is a very rare genetic disorder, in which seven genes or some subset thereof on chromosome 15 are missing or unexpressed on the paternal chromosome. This disease was at first described in 1956 by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and Guido Fanconi of Switzerland. You must also know that the incidence of PWS is between 1 in 10,000 and 1 in 15,000 live births. The distinction of chromosome by parental origin is due to imprinting and PWS has also one of the sister syndrome which is known as the Angelman syndrome which affects maternally imprinted genes in the region.

Diagnosis

As far as the numbers of effected new born babies are concerned it is not really surprising to note that approximately 1 in 10,000 to 1 in 15,000 new borns are affected by it. The disease is often characterized by hypotonia, short stature, polyphagia, obesity, small hands and feet, hypogonadism, and mild mental retardation.

Currently, the syndrome is diagnosed through genetic testing and almost all the doctors really recommend the early diagnosis for newborns that shows pronounced hypotonia. The Early diagnosis is really very helpful and advantageous as it allows for early intervention as well as the early prescription of growth hormone. Daily recombinant growth hormone (GH) injections are always indicated for children with PWS. The growth hormone really supports linear growth and increased muscle mass, and may lessen food preoccupation and weight gain. This is why the GH injections are really recommended for such patients.

I must say that there are several aspects of the PWS that support the concept of the deficiency of the growth hormones among the children who are suffering from the PWS. Specifically the individuals with PWS have short stature, are generally obese with abnormal body composition. They have reduced fat free mass. The have reduced LBM and total energy expenditure and I must also say that it has also reduced bone density.

It is quiet certain that the PWS is characterized by the hypogonadism. However it might be treated with the hormone replacement therapy.

This disease is often associated with an extreme and insatiable appetite, which results into morbid obesity.  However there is currently no consensus as far as the cause for this particular syndrome is concerned. The normal functioning of the hypothalamus is really disrupted due to the genetic abnormalities in chromosome 15.

Treatment

There is really no cure for this disease. However I must tell you that many treatments are really under observation. Speech and the occupational therapy are also indicated. As far as the schooling is concerned the children are really vastly benefited by the highly structural learning environment.

However up till now this disease really remains incurable.

This is one of the diseases which mark the developmental disorder which affects many part of the body. As far as the major features of this disease are concerned I must say that it is really marked by the moderate mental retardation, distinctive facial features, sleep disturbances, and behavioral problems. The Smith-Magenis syndrome affects an estimated one in 25000 citizens.

The eponym Smith-Magenis describes the name of two workers who described the disease in the year 1986. Their name was Ann C. M. Smith, who was a genetic counselor at the National Institutes of Health, and R. Ellen Magenis, who was a pediatrician, medical geneticist and cytogeneticist at the Oregon Health Sciences University.

Symptoms
Those children who are suffering from Smith-Magenis syndrome often have a broad, square-shaped face with deep-set eyes, full cheeks, and a major lower jaw. As far as the middle of the face and the bridge of the nose are concerned they often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip. As far as these facial differences are concerned they can be subtle in early childhood, but they characteristically turn out to be coarser and more idiosyncratic in later childhood and adulthood.

The characteristic of Smith-Magenis syndrome disrupted sleep patterns, which typically begin early in life. Those people who are affected by this disease, I must say, feel sleepy during the most part of the day. However they really find it quiet difficult in falling asleep and awakening many times in night which happens due to an inverted circadian rhythm of melatonin.

People who are suffering from Smith-Magenis syndrome have attractive personalities, but most of them also have behavioral problems. This behavioral problem includes frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness, and difficulty paying attention. I do feel that the self injury are also quiet common which includes biting, hitting, head banging, and skin picking, is very common.

Repetitive self-hugging is one of the behavioral traits which are really unique to Smith-Magenis syndrome. People who are suffering from this syndrome may also compulsively lick their fingers and flip pages of books and magazines and this behavior is known as  “lick and flip), as well as it possesses an imposing aptitude to recall a wide range of small details about people or subject-specific trivia.

There are some other syndromes as well that can include short stature, abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Those individuals who are affected may have eye abnormalities that cause nearsightedness which is also called myopia, strabismus, and other problems with vision. The individuals can also suffer from Heart and kidney defects which have been reported in people with Smith-Magenis syndrome, but they are not so common.

Crigler-Najjar Syndrome or CNS as it is generally abbreviated is a rare disorder which affects the metabolism of bilirubin, which is a chemical formed from the breakdown of blood. This is one kind of disorder that results in an inherited form of non-hemolytic jaundice, which often leads to brain damage in infants.

Actually this syndrome is divided into two types. They are type I and type II, which is sometimes also called Arias syndrome. These two types of syndromes along with Gilbert’s syndrome, Dubin-Johnson syndrome, and Rotor syndrome generally make up the five known defects which are hereditary in bilirubin metabolism. Most of the doctors do feel that unlike Gilbert’s syndrome, only a few hundred cases of CNS are known to exist.

I would now like to discuss each of them that are type I and type II one by one. The description is as follows:

1. Crigler-Nazzar Syndrome Type I

This is one of the very rare disease which is found among estimated at 0.6 - 1.0 per million live births, and consanguinity almost increases the risk involved in this condition. As far as this disease inheritance is concerned it is generally autosomal recessive.

The patient can suffer from the intense jaundice which might appear in the first day of life and would persist thereafter.

The therapy includes following things:

• 12h/d phototherapy.
• heme oxygenase inhibitors to reduce transient worsening of hyperbilirubinemia.
• Oral calcium phosphate and -carbonate to form complexes with bilirubin in the gut.
• Liver transplantation prior to the onset of brain damage and before phototherapy becomes ineffective at later age.

2. Crigler-Nazzar Syndrome Type II
This is quiet different from the type I on the basis of several reasons. Some of them are as follows:

• As far as the bilirubin levels are concerned they are generally below 345 µmol/L.
• The kernicterus is generally rare in type II because of the lower serum bilirubin.
• Bile is pigmented, instead of pale in type I or dark as normal.
• UGT1A1 is present at reduced but detectable levels .
• I must say that the treatment with the phenobarbital is quiet effective and there is generally a decrease of at least 25% in serum bilirubin. In fact, this can be used, along with these other factors, to differentiate type I and II.
• The inheritance pattern of Crigler-Najjar syndrome type II has really still not been found and it is still a mystery, but is generally considered to be autosomal recessive.

These two sets of disease really looks to be incurable up till now but I must tell you that the research is really on and very soon we will find out some genuine medicine for this disease.

Sickle-cell disease denotes a prolonged blood disorder, which is featured by red blood cells assuming a rigid, abnormal and sickle shape. Sickling reduces the flexibility of the cells and leads to the risk of several complications. The sickling appears due to a mutation of the hemoglobin gene. The life expectancy gets shortened, with researches suggesting the average life expectancy to be around forty two years in case of males and forty eight years in case of females, respectively.

The disease, generally presenting in case of childhood, appears more commonly in case of people from parts of tropical as well as sub-tropical regions. In these areas malaria is or had been common. A third of all the aboriginal inhabitants of the Sub-Saharan Africa region carry this gene, as in case of areas where malaria has been common, there has been a survival value as in carrying out only one sickle-cell gene. Those with only a single of the two alleles in the sickle-cell diseases have been more resistant towards malaria, as the infestation of malaria plasmodium is stopped by sickling of cells which it infests.

Sickle-cell anaemia may lead to several complications, which includes acute post-(auto)splenectomy infection, due to functional asplenia, as a result of encapsulated organisms; stroke, which may be caused due to a progressive vascular contraction of the blood vessels, which prevents oxygen from getting to the brain; cholelithiasis and cholecystitis, which might result from excessive bilirubin production; avascular necrosis of the hip as well as other major joints; decreased immune reactions as a result of hyposplenism, priapism and infarction of penis.

Other complications arising from this condition include Osteomyelitis, Opioid tolerance, acute papillary necrosis of the kidneys, Leg ulcers, proliferative retinopathy, background retinopathy, vitreous haemorrhages, retinal detachments, spontaneous abortion, intrauterine growth retardation, pre-eclampsia, Chronic pain, Pulmonary hypertension, as well as Chronic renal failure.

In the United States, studies by the National Institute of Health have revealed that the incidence of this disease is around one in every five thousand, wherein, African Americans are mostly affected.

Sickle cell gene mutation might have probably arisen spontaneously in various geographical areas, as suggested by the restriction endonuclease analysis. Such variants are referred to as Senegal, Cameroon, Bantu, Benin, as well as Saudi-Asian. As it is, their clinical importance bounces from the fact that a few of them are linked with higher HbF levels, such as Senegal or Saudi-Asian variants, thereby having milder disease.

Post-Vasectomy Pain Syndrome refers to a prolonged chronic pain situation, which affects around five to thirty three percent of vasectomized men. This particular pain syndrome is said to be caused due to a combination of chronic inflammation, testicular backpressure, fibrosis, nerve entrapment, sperm granulomas as well as electrical activity changes of the vas deferens. As it is, pain in epididymides is a major sign, Post Vasectomy Pain Syndrome has also been known as congestive epididymitis. The pain may be present in a number of ways, such as orchialgia, i.e. chronic testicular pain, pain at the time of intercourse, physical exertion or ejaculation, or pain as a result of full or tender epididymies.

There is also a marked boost to pressure in the vas in the testicular side and following vasectomy. As it is, the epididymides, in case of vasectomized men have quite often been found to be swollen, as well as distended from the backpressure effects. Now, the efferent ducts, as well as the seminiferous tubules in the testes have also been believed to be impacted due to backpressure, resulting in an increase in the area, as well as thickness. The backpressure caused due to blocking of the vas deferens would result in what is known as an epididymal blowout in case of over half of the vasectomy patients.

It is said that as a part of the response of the body towards the injury of the vasectomy, the body makes hard scar-like tissues. Clamping of the vas deferens might produce muscle disruption as well as fibrosis. Now, as the diameter in the vas lumen has been less than the thickness in the wall, the broad muscle layers may easily become disrupted, which leads to sperm extravasation and accumulation. Cysts are often formed from the fluid, which spreads in between the muscle layers.

The sperm leak from vas deferens and the epididymides in case of vasectomized men, resulting in the formation of lesions in scrotum, also known as sperm granulomas. As it is, some sperm granulomas might be painful as well. However, it is interesting to note that, sperm granulomas may actually reduce the chances of Post Vasectomy Pain Syndrome by serving up as a pressure valve.

Nerves may become entrapped in the fibrous tissues caused due to vasectomy. This pain gets often heightened at the time of intercourse, as well as ejaculation as with arousal or ejaculation, the muscles tend to elevate the testis. Large number of nerves, which run parallel to vas are easily damaged or cut during vasectomy.

Osteomyelitis refers to an infection in the bone or the bone marrow, generally caused due to mycobacteria or pyogenic bacteria. It may be sub classified on the basis of causative organism, duration, the route, as well as anatomic site of the infection. In most cases, the microorganisms might infect bones by way of one or more of the three basic methods, i.e. through the bloodstreams, contiguously from the local areas of infection, or penetrating trauma, which includes iatrogenic causes like joint replacements, internal fixation of fractures, as well as root-canaled teeth.

After the bone has been infected, the leukocytes enter the area of infection. As it is, in their bid to overcome the infectious organisms, they release enzymes, which lyse the bone. Thereby, pus spreads in the bone’s blood vessels, which impairs their flow and the areas of the devitalized infected bone, called as sequestra, forms the basis of chronic infection. Quite often, the body would try to create a new bone around the spot of necrosis. As it is, the resultant new bone is often referred to as involucrum.

On a histologic examination, such areas of the necrotic bone are said to be the basis for differentiating between chronic osteomyelitis and acute osteomyelitis. Osteomyelitis refers to an infective process that encompasses all the bone components, which includes the bone marrow as well. At the time, it is chronic it may cause bone sclerosis as well as deformity.

In case of infants, the infection may spread into the joints and may cause arthritis. In case of children, formation of large subperiosteal abscesses may take place, as the periosteum is attached loosely to surface of the bone. Due to the particulars of the blood supply, femur, the tibia, humerus, the maxilla, vertebra, as well as the mandibular bodies are particularly at risk to osteomyelitis.

However, abscesses in a bone might be precipitated through trauma in the affected area. Several infections are caused due to Staphylococcus aureus, which is a member of normal flora, which is found over the skin as well as mucous membranes.

Acute osteomyelitis may almost invariably occur in case of children. In case of children, the long bones are the ones, which are usually affected. In case of adults, the vertebrae as well as the pelvis are the most commonly affected areas. When adults get affected, it might be due to compromised host resistance as a result of debilitation, infectious root-canaled teeth, intravenous drug abuse, or other diseases or drugs.

Pyogenic granuloma which is also referred to as a pregnancy tumor is a primarily oral disease which appears in the mouth as an overgrowth of tissue to due irritation, physical trauma or hormonal factors. It is often found to involve the skin and nasal septum, and has also been found far from the head such as in the thigh.

History
You must note down that the Pyogenic granuloma was first originally described in 1897 by two French surgeons, Poncet and Dor, who named this wound otyomycosis hominis. You must also note that the name for pyogenic granuloma is misleading because it is not a true granuloma. Actually it is a capillary hemangioma of lobular subtype which is the reason they are often quite prone to bleeding.

Signs and symptoms
The appearance of pyogenic granuloma is usually a color ranging from red/pink to purple, and can be smooth or lobulated. As far as the younger lesions are concerned I must tell you that they appear to be red due to the presence of large number of blood vessels. However the older lesians start appearing as pink.  The size of the lesians ranges from few millimeters to few centimeters. It can be painful, especially if located in an area of the body where it is constantly disturbed. Pyogenic granulomas can grow rapidly and will often bleed profusely with little or no trauma.

You must note down that it is common among the young children and adult. As far as the gender is concerned I must say that it is more common in the women than the men. In pregnant women, it is most likely to occur in the first trimester with an increasing incidence up until the seventh month and is often seen on the anterior nasal septum as a source of frequent nose bleeds. Pyogenic granulomas appear on the gingiva in 75% of cases, more often in the maxillary than mandibular jaw. Anterior areas are more often affected than posterior areas. It can also be found on the lips, tongue, and inner cheek. Poor oral hygiene or trauma is usually precipitating factors.

One study has suggested a correlation between pyogenic granuloma and Bartonella seropositivity.  However, this association has been questioned by others. The appearance of a pyogenic granulomas microscopically has a highly vascular granulation tissue. Inflammation is present. You should note down that the lesion may have a fibrous character if it is older, and the surface may have ulcerations. It is also found out that the Pyogenic granuloma rarely occurs in the conjunctiva, cornea or connective tissue of the eye following minor local trauma. Grossly these mass lesions resemble those occurring at more common sites. The relationship of this lesion to the lobular capillary hemangioma of skin and oropharyngeal mucosa commonly referred to as pyogenic granuloma is uncertain.

As far as the treatment is concerned you should note that here is no treatment for this disease. Hence it is really better if you keep a distance from this disease.

Donohue syndrome which is also known as Leprechaunism is an extremely rare and severe genetic disorder. Leprechaunism derives its name from the fact that those who are really afflicted with this disease oftens tends to show the elfin features and their size is as well smaller than what normally it should really be.

As far as the facial features of those patients who are suffering from the Donohue syndrome are concerned I must say that this disease is marked by the protuberant and low set ears, flaring nostrils and thick lips.  As far as the physical features are concerned I must say that it includes the stunted growth and an enlarged clitoris.

The mutation causing this disorder most probably affects insulin receptor function, and those patients who are suffering from this disease are also insulin resistant, with hypoglycemia and profound hyperinsulinemia which really marks the very high level of the insulin in the blood. There is one another feature of the disease and i.e. that the subcutaneous Adipose tissue is markedly diminished. This really is the reason behind the unusual appearance of the affected individuals.

There is one milder form of the disease in which there can be some insulin resistance but the growth is really hindered and subcutaneous fat distribution. It is caused by a less severe mutation of the same gene.

The Donohue syndrome is really named after the name of Dr. W. L.Donohue who was the first to identify this disease in the year 1948. The name leprachaunism has been largely abandoned due to the perception of the name of some parents of the patient was insulting. It is really a fact that the Donohue syndrome is nothing else but an autosomal recessive genetic disorder.

As far as the cause of the disease is concerned the disease is really the cause of the disease is really the lack of a fully functional insulin receptor, which has a really a profound effect during fetal development and thereafter. In one case, it was found by culturing pancreatic cells that the receptor which was being produced by the mutant allele is only about 15% as effective as the normal receptor would be. The beta cells situated in the pancreas which is really responsible for making and storing insulin and then release it on an as-needed basis, are often found to be very large or numerous.

This is one of the diseases which I really feel that can be very dangerous at times. I do feel that the exact reason behind this disease is not yet known and the research regarding it is really under process as far as reasons behind this disease is concerned. One can only hope that they are soon able to find out the reasons.

Ependyomoma is the tumor which arises from the ependyma which is a tissue of the central nervous system. As far as the children are concerned the location is intracranial and as far as the adults are concerned they are located in the spinal. The common location of the ependyomoma intracranial is the fourth ventricle. However, very rarely the ependyomoma is found in the pelvic cavity. Syringomyelia can be caused by ependymoma. It can also cause the meurofibromitosis Type II.

As far as the composition of the Ependymomas is concerned I must say that you will find out that they are composed of cells with regular, round to oval nuclei. There is also a variably dense fibrillary background. Tumor cells may form gland-like round or elongated structures that resemble the embryologic ependymal canal, with long, delicate processes extending into the lumen; more frequently present are perivascular pseudorosettes in which tumor cells are arranged around vessels with an intervening zone consisting of thin ependymal processes directed toward the wall of the vessel.

Symptoms

Following symptoms are found in the patients:

• Hydrocephalus
• Increased pressure inside skull
• Headache
• Papilloedema
• Vomiting
• Unsteadiness
• Cognitive problems
• Behavioral problems
• Seizures
• Nausea
• Personality changes
• Vision problems
• Cranial nerve paresis
• Impaired memory
• Speech problems
• Weakness
• Motor dysfunction
• Dementia
• Weakness
• Back pain
• Numbness
• Loss of bladder control

These are some of the symptoms which you will definitely find in the patients suffering from this disease.

Causes
As with all the brain tumor I must say that you will find the causes of the ependymoma is also unknown up till now. The scientist and the medical experts have yet not been able to find the cause for this kind of brain tumor. But one thing is for sure and that it is will be discovered very soon.

Treatment
In order to cure the disease permanently I must say that the many tests and investigations are required to be performed. Some of those tests are as follows:

1. Neurological examination or the nerve tests.
2. Computerized tomography scan or the CT scan.
3. MRI or the magnetic resonance imaging scan.
4. Biopsy.
5. Lumber puncture.

I must really say that these tests are really important and the doctor operating you will certainly advise to go through any one or two of these tests.

The treatment of the tumor really depends upon the results of the test which the doctor will ask to take. I must say that the doctor will decide that what kinds of treatment you will under go. He will first check out that in which part of the brain the tumor is situated, whether it has spread to other parts of the brain and so on. You can then go through surgery, chemotherapy and radiotherapy.

However one thing is for sure and that is you will find this disease to be a headache. You will be very lucky if you get yourself out of it.

The term aptha means the ulcer. The disease aptha ulcer is also known as the canker sore and is a type of the oral which occurs in the mouth. This is really quiet painful and do not allow us with the freedom of eating anything. I must say that it is really very teasing to suffer from this disease. It really puts a full stop to the spicy food unless and until it is cured completely.

You must note that the aphthous ulcer is really decided by the diameter of the lesion. It can be major or it can be minor but this decision really depends upon the diameter of the lesion.

We can divide it into three sub categories. They are as follows:

1. Minor Ulceration
The minor ulceration marks the size between 3 to 10mm in diameter. You must also note that this is the diameter of the lesion. The appearance of the lesion is that of the erythematous halo with grayish or yellowish color. Pain is the obvious sign of this disease.

2. Major Ulceration
I must say that the major ulceration is much more severe than the minor ulceration. The diameter of the lesion is more than the 10mm. the major ulceration really looks like the minor ulceration but it is more severe than the minor ulceration. They take more than a month to heal and I must say that it also leave a scar behind. These really occur after the puberty with frequent recurrences. They occur on moveable non-keratinizing oral surfaces, but the ulcer borders may extend onto keratinized surfaces. The lesion heals up with the scarring and cause severe pain and discomfort.

3. Herpetiform ulceration
This is really most severe form of the ulceration. In this type of ulceration I must say that number of lesion which are 1 to 3 mm in diameter forms the cluster. This really causes lots of pain and I must say that they really cause lots of problem. However unlike the major ulceration this really heals without the scars and also took less time in healing which is less than a month.

Symptoms
This ulcer often begins with the tingling and burning sensation at the site of the future aphthous ulcer. In just a few days they grow up forming the red dots which can also be called the pump which then transforms into the open ulcer. This tends to look like the white or yellow oval with inflamed red borders. Sometimes a white circle or halo around the lesion can be observed.

Treatment
Suggestions to reduce the pain caused by an ulcer include: avoiding spicy food, eating plain vanilla yogurt, rinsing with salt water (applying a pinch of salt directly to the ulcer and letting it sit will numb it for a few hours) or over-the-counter mouthwashes, proper oral hygiene and non-prescription local anesthetics.

I must say that you should really not worry about this disease since it is curable. But it is really better to avoid it.