Fucosidosis Types 1 Detailed Information
by Juliet Cohen

Fucosidosis is inherited as an autosomal recessive genetic trait. Fucosidosis is a really uncommon hereditary lysosomal storage disease characterized by a deficiency of the enzyme alpha-L-fucosidase. This disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates. Low levels of the alpha-L-fucosidase enzyme lead to the abnormal accumulation of certain fucose-containing complex compounds (i.e., glycosphingolipids, glycolipids, and glycoproteins) in lots of tissues of the body.

There are two types of Fucosidosis (Type 1 and Type 2), determined mainly by the severity of the symptoms. In type 1, rapid psychomotor regression, severe and rapidly progressing neurologic signs, elevated sodium and chloride excretion in the sweat, and fatal outcome before the sixth year. Type I usually presents in the first 3-18 months of life with features typical of lysosomal storage diseases including coarsening of facial features, organomegaly , and dysostosis multiplex. The symptoms of Fucosidosis Type 1, the most severe form of the disease, may become apparent as early as six months of age.

Symptoms may comprise progressive deterioration of the brain and spinal cord, mental retardation, loss of previously obtained intellectual skills, and increase retardation leading to short stature. Other physical findings and features become evident over time including multiple deformities of the bones, coarse facial features, and enlargement of the heart enlargement of the liver and spleen, and/or episodes of uncontrolled electrical activity in the brain (seizures). Additional symptoms may include increased or decreased perspiration and/or malfunction of the gallbladder and/or salivary glands. Fucosidosis Types 1 and 2 may be found in the same family.

Detailed Information on Motor Neuron Disease
by Juliet Cohen

Motor neurone disease is one of the most frequent neurodegenerative diseases of adult onset. Motor neurone disease is a advanced, degenerative disorder that affects nerves in the upper or lower parts of the body. Upper motor neurons direct the lower motor neurons to produce movements such as walking or chewing. Lower motor neurons control movement in the arms, legs, chest, face, throat, and tongue. When there are disruptions in these signals, the muscles do not work properly; the result can be gradual weakening, wasting away, and uncontrollable twitching (called fasciculations).

When upper motor neurons are simulated, the manifestations include spasticity or stiffness of limb muscles and over activity of tendon reflexes such as knee and ankle jerks. Eventually, the ability to control voluntary movement can be lost. MNDs may be inherited or acquired. Symptoms may include difficulty swallowing, limb weakness, slurred speech, impaired gait, facial weakness, and muscle cramps. Motor neuron disease occurs in adults and children. In children, particularly in inherited or familial forms of the disease, symptoms can be present at birth or appear before the child learns to walk.

Motor neuron disease tends to affect people over 40 and is most common between the ages of 50 and 70. There are about 5,000 people with MND at any one time in the UK. The condition affects twice as several men as women. The causes of MND are viruses, toxins, genetic factors and immune factors, nerve growth factors and chemicals which control nerve cells and allow them to communicate with each other and growth, renovate and ageing of motor neurones. The body’s autoimmune reaction to viruses such as the human immunodeficiency virus can trigger MNDs. There is no cure or standard treatment for the MNDs.

Treatment can slow down the progression of the disease for some people and occupational therapy can aid to overcome difficulties. Symptomatic and supportive treatment can help patients be more comfortable while maintaining their quality of life. Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs help some patients retain independence. Physiotherapy can help to maximise mobility. This includes: providing splints, collars, and other supports to help with posture. Dietary advice is often needed when feeding and swallowing become difficult.

Fraser syndrome Detailed Information
by Juliet Cohen

Fraser syndrome is a uncommon genetic syndrome with abnormalities of the head, lungs, kidneys, and limbs. Fraser syndrome is also referred to as crytophthalmos with extra malformations because over 90% of the people born with this syndrome have hidden (crypto-) eyes (ophthalmos). It is alternately called cryptophthalmos-syndactyly syndrome since most affected individuals also have partial fusion or webbing of their fingers or toes (syndactyly). It is characterized by developmental defects including underdevelopment of the eyes (cryptophthalmos) and the genitals (micropenis, cryptorchidism or clitoromegaly).

Congenital malformations of the nose, ears, larynx, and renal system as well as mental retardation are apparent occasionally. In Childs with Fraser syndrome, renal malformations may embrace improper development (dysphasia), underdevelopment (hypoplasia), or absence of one or both kidneys (unilateral or bilateral renal agenesis). In affected males, one or both testes may fail to descend into the scrotum (cryptorchidism), the urinary opening (meatus) may be abnormally placed on the underside of the penis (hypostasis), and/or the penis may be abnormally small (micropenis).

Fraser syndrome has a recurrence hazard of 25 % among siblings. Affected females may have malformed fallopian tubes, an abnormally enlarged clitoris (clitoromegaly), and/or an abnormally shaped uterus (bicorn ate uterus). In addition, the folds of skin on also side of the vaginal opening (labia) may be oddly fused. Childs and children with Fraser syndrome may also have other abnormalities including malformations of the middle and outer ear that may result in hearing impairment. Fraser syndrome is inherited as an autosomal recessive genetic trait.

The genetic condition of this disease has been allied to a gene called FRAS1, which appears to be absorbed in skin epithelial morphogenesis during early development. It has also been associated with FREM2. Treatment of Fraser syndrome may comprise surgery to correct some of the malformations associated with this disorder.

Glioblastoma Multiforme Detailed Information
by Juliet Cohen

Glioblastoma multiforme (grade IV astrocytoma) is the most general and most malignant of the main brain tumors. Glioblastoma multiforme generally spreads rapidly to other parts of the brain. GBM is faintly more common in men than in women; the male-to-female ratio is 3:2. Most glioblastoma tumors show to be sporadic, without any inherited predisposition. They have also been connected with exposure to vinyl chloride and to high doses of radiation therapy to the brain. Glioblastomas can be classified as primary or secondary. Primary GBMs account for the large majority of cases in adults older than 50 years.

When these tumors apparent de novo, they present after a short clinical history, generally less than 3 months. Secondary GBMs (40%) normally extend in adolescence patients through malignant progression from a low-grade astrocytoma or anaplastic astrocytoma. This tumor can arise in all age groups, including children; the average age at which it is diagnosed is 55 years. The common symptoms of glioblastoma multiforme consist of seizure, nausea and vomiting, headache, and hemi paresis, the single most widespread symptom is a progressive memory, personality, or neurological scarcity due to temporal and frontal lobe involvement.

The tumor can begin producing symptoms rapidly, but occasionally is asymptomatic until it reaches a massive size. Treatment of a brain tumor depends on the nature of the tumor, how speedily it is growing, and what symptoms it causing and where it is located. Supportive treatment focuses on relieving symptoms and improving the patients neurologic function. The main supportive agents are anticonvulsants and corticosteroids. Surgery has several roles in the management of glioblastoma multiforme, including treatment of increased intracranial pressure, biopsy and tumor removal. Radiation therapy is needed to treat gliomas.

Chemotherapy also benefits several patients with such tumors. Chemotherapy is general treatment, meaning it is introduced to the bloodstream and travels throughout the body to destroy cancer cells. Chemotherapy can be given as a pill to swallow and given directly into the spinal column with a needle. Different groups of chemotherapy drugs work in different methods to fight cancer cells and shrink tumors. Frequently, a combination of chemotherapy drugs is utilized to battle a specific cancer. Certain chemotherapy drugs may be given in a specific order depending on the type of cancer it is being used to treat.

Detailed Information on Necrotizing Enterocolitis
by Juliet Cohen

Necrotizing enterocolitis is the death of intestinal tissue. The illness is most common among premature newborns. Necrotizing enterocolitis (NEC) occurs in approximately 25,000 babies per year. Many newborns who develop necrotizing enterocolitis survive and go on to live healthy lives. But if the infection becomes severe, it can cause serious damage to or holes in the intestinal tissue. NEC typically occurs within the first 2 weeks of life, usually after milk feeding has begun (at first, feedings are usually given through a tube that goes directly to the baby’s stomach).

The consequence of necrotizing enterocolitis is not clear. It is believed to occur when the immune and digestive systems do not grow properly. This can happen when a baby is born prematurely or when there are complications during pregnancy or delivery. Bacteria in the intestine may also be a result. In the most severe cases, necrotizing enterocolitis can be fatal. Necrotizing Enterocolitis is equally affected both male and female. Babies with too many red blood cells in the circulation are at an increased risk of developing NEC. This thickens the blood and makes oxygen transport more difficult.

Babies with gastrointestinal infections are at an increased risk of developing NEC. Babies who have had a difficult delivery or lowered oxygen levels are at an enlarged risk for developing NEC. A baby’s symptoms depend on how severe the condition is. The primary symptoms vary and may involve feeding intolerance, abdominal distension, bloody stools, apnea, lethargy, temperature instability or hypoperfusion. In newborns who have mild to moderate necrotizing enterocolitis, treatment consists of intravenous (IV) feeding, antibiotics, and removing extra fluids. Intravenous fluids are given to maintain hydration.

About 70% of newborns with necrotizing enterocolitis do not require surgery. If the intestine perforates, then surgery is needed. Surgery may also be required if the condition progressively worsens despite treatment. Pharmacologic therapy includes agents to treat the developing disease and those to provide supportive and symptomatic relief. Different antibiotic regimens can be used; one frequently used regimen includes vancomycin, cefotaxime, and clindamycin or metronidazole. This combination provides broad gram-positive coverage, excellent gram-negative coverage (with the exception of pseudomonads), and anaerobic coverage.

Grey Hair Care Information
by Juliet Cohen

Hair are an integral part of the vanity in men and women. Almost all people at one stage of life suffer from some hair problems like graying of hair, hair-fall, dandruff and baldness. Grey hair in old days was the sign of reaching mid life or starting with old age. Hair greying can be termed as one of the first visible signs of aging. Gray hair is caused when the follicle is unable to add color to the hair or when there is lack of melanin in the body. The hair follicle loses all pigment over time and eventually goes white. The white hairs against your darker hair give the effect of grey hair.

There are various causes of grey hair. One leading cause is stress and tension. Lot of stress and tension result to early graying of hair. Malnutrition, worry, shock, deep sorrow, tension and other aliky conditions may also slow down the production of melanin resulting in grey hair. Washing hair in hot water, drying hair using an electric dryer and an unclean scalp can also cause premature greying. Another reason could be age. Smoking is generally said to be injurious to health so it has to be injurious to your hair too. Certain Illness can also lead to graying or premature ageing of hair.

Some drugs can also lead to change of color of hair early. Genetics play an important role in hair greying. If your parents or your grandparents were victims of premature hair greying there are ample chances for your hair to go grey prematurely. There are many grey hair treatment available. Dyeing is one of the most common ways of treating grey hair. Other cosmetics available in the market may just help you keep your hair in a good condition and healthy but they would not help in delaying the process of getting gray hair. Natural remedies are a better option as discussed in the next section.

Amla is the best prevent for grey hair and hair loss. Daily massage of amla paste rubbed into the scalp has worked marvels in many cases. Folic acid and vitamin B6 play an important role in curing graying of hair. Nourishment and correct grooming is very important to keep the hair texture, growth, shin and luster in a good condition. Massage your hairs with coconut oil and Lemon everyday for at least 15 minutes. Avoid using harsh shampoos with chemicals instead go the natural way. Soak some reetha pods over night and use these to wash hair next day morning.

Hair Washing Tips
by Juliet Cohen

Everyone needs to wash their hair. Washing our hair is a very simple job; it is because we have to wash our hair at least twice or thrice a week. Hair washing is the cosmetic act of keeping hair clean by washing it with shampoo or other detergent products and water. There are many ways to use washing your hair properly. When washing your hair, it is best if you get in the shower. You may give yourself a back-ache and wont be able to rinse properly if you wash your hair in the sink. Start by rinsing your hair to remove any leave-in conditioner or styling aids. Use a quarter sized dollop of shampoo and rub your hands together to distribute it.

Put the shampoo on your scalp, not the ends of your hair. There are different types of shampoos available for these and many other special conditions, from designer products to generic cleansers. From basic shampoos to moisturizing, revitalizing blends specially formulated for a particular hair color or condition, you can clean your hair best when using the proper shampoo. But use shampoo according to your hair length. Excessive shampoo may harm your hair.The amount of shampoo you should use when washing hair depends on the length of the hair and quality of shampoo.

Very short hair will only require a little amount perhaps a puddle in your palm the size of a quarter while long hair may want twice that amount, or more. Apply shampoo to the crown of your head (directly or from your hand), massaging gently to form a lather. Massage on your scalp to kill the dead skin cells. Dead skin cells frequent cause to dandruff. Apply conditioner. Conditioners penetrate better on towel dried hair so remove excess water first. Be gentle. To protect your hair, smooth your hands down your head from the top of your head down to remove excess water. Do not apply it on your roots, but apply on the ends.

The ends are broken most and need extra care. Leave the conditioner for at few a minute. Rinse your hair if necessary. Check the conditioner you pick on. If the conditioner is a leave in one do not rinse, otherwise use less water to rinse your hair. Blot your hair with a towel to remove water. Do not rub the towel, as it may hold fibers damaging your hair. Avoid using a blow dryer. If you have to use a hairdyer, be careful not to dry hair completely. Instead stop just before your hair is completely dry and allow your hair to dry naturally.

Galactosemia Detailed Information
by Juliet Cohen

Galactosemia is the lack of ability of the body to employ (metabolize) the simple sugar galactose, causing the buildup of galactose 1-phosphate in the body. It arises in about 1 out of every 60,000 births among Caucasians, while the rate is dissimilar for other groups. There are three forms of the disease include galactose-1 phosphate uridyl transferase lack (classic galactosemia, the most common and most severe form), deficiency of galactose kinase, and deficiency of galactose-6-phosphate epimerase. People with galactosemia are unable to completely break down the simple sugar galactose.

Galactose makes up half of lactose, the sugar initiate in milk. Lactose is called a disaccharide because it is made up of two sugars, galactose and glucose, bound together. It is much rarer in Japan and much more general in Italy, expressly the traveler region. Galactosemia is also very common in the Irish Traveller population. This is attributed to consanguinity within a relatively small gene pool. Galactosemia usually causes no symptoms at birth, but jaundice, diarrhea, and vomiting soon develop and the baby fails to increase weight.

If not sensed instantly, it results in liver disease, cataracts, mental retardation, and even death. Death can arise as early as one to two weeks of age from harsh escherichia (E. coli) bacteria infections. E. coli infections are general in untreated galactosemic children. All infants who expand jaundice are considered for galactosemia. Other grave complications of this condition can comprise overwhelming bacterial infections (sepsis) and shock. Affected children are also at augmented risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and mental retardation.

Females with common galactosemia may experience reproductive problems caused by ovarian failure. The main aim of dietary treatment of galactosemia is to eliminate any foods including galactose from the diet. The condition is lifelong and requires abstinence from milk, milk products, and galactose-containing foods for life. Calcium supplements are suggested. Pills that utilize lactose as filler must also be avoided. Soy-based and casein hydrolysate-based formulas are recommended for infants with galactosemia. Parents require taking care and teaching the child to avoid not only milk and milk products, but also those foods that hold dry milk products.

Glioma Detailed Information
by Juliet Cohen

A Glioma is a form of cancer that begins in the brain or spine. It is called a glioma because it occurs from glial cells. These brain tumors comprise the astrocytomas, ependymomas and oligodendrogliomas. These tumors are the most common main brain tumors. Astrocytomas, ependymomas and oligodendrogliomas are conversed separately. Primary glioma brain tumors arise at a rate of 12.8 per 100,000 people. Although people of any age can expand a brain tumor, the problem appears to be most common in children ages 3 to 12 and in adults ages 40 to 70.

Symptoms of gliomas depend on which part of the central nervous system is affected. A brain glioma can cause headaches, nausea and vomiting, seizures, and cranial nerve disorders as a result of augmented intracranial pressure. A glioma of the optic nerve can cause visual loss. Spinal cord gliomas can cause pain, weakness, or numbness in the extremities. Brain tumors can be challenging to treat, but many are treated successfully. Also, new technology helps physicians target tumors more precisely. The treatment of a brain stop glioma depends upon the characteristics of the individual tumor.

Treatment is a mutual approach, using surgery, radiation therapy, and chemotherapy. Surgery is the basis of glioma treatment and absorbs removing as much of the glioma as possible, while trying to minimize damage to healthy tissue. Some tumors can be removed completely, and others only moderately or not at all. The radiation therapy is in the form of outside beam radiation or the stereotactic approach using radio surgery. Spinal cord tumors can be treated by surgery and radiation. Temozolomide is a chemotherapeutic drug that is able to cross the blood-brain barrier effectively and is being used in therapy.

Steroid medications may be required to decrease swelling and inflammation of brain tissue. Anticonvulsants medications may be prescribed to assist prevent or manage seizures. In brachytherapy, materials that produce radiation (radioisotopes) are placed directly into the tumor to demolish tumor cells from the inside (internal radiation therapy). Chemotherapy, drugs taken by mouth or intravenously, can assist kill tumor cells. Sometimes, chemotherapy-coated wafers are placed in the space left after a tumor has been detached to try and prevent recurrence. Many gliomas are treated with a combination of surgery, radiation and chemotherapy.

Detailed Information on Marshall-Smith Syndrome
by Juliet Cohen

Marshall-Smith syndrome is a childhood condition. Marshall-Smith syndrome is very rare in the general population. It shows to be present across the world, affecting males and females equally. Marshall-Smith Syndrome is characterized by unusual hastened skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. Ear infections are common, because the bacteria can spread to the ears as well. Internal nasal passages may be narrower in people with MSS, which can also pose difficulty with breathing.

Children with MSS may have harms with eating, due to likely reasons that they may have difficulty breathing. Additionally, they may have a weak “suck” and “swallowing” reflex, normally controlled by muscular movements. Facial characteristics of people with MSS include those mentioned earlier, but other features may also occasionally be present. These can be blue-tinged sclerae (the white sections of the eyes), a large head circumference (measurement around the head), and a small, triangle-shaped face (with the point of the triangle being at the chin).

Occasionally, creases in the hands are “deeper” than usual in people with MSS. The first toe can also be longer and bigger than usual. Additional features comprise hirsuitism and an umbilical hernia. Hearing loss can sometimes occur. Most children with MSS die in early infancy, frequently by three years of age, largely due to severe respiratory complications, and infections that may result from them. There have been reports of children surviving until age seven oreight, but these children did not have severe respiratory problems. Treatment of Marshall-Smith syndrome is often necessitates placing a tracheotomy to help with breathing.

Manual removal of the mucus buildup by suctioning near the tracheotomy is common. Frequent pneumonia is common, and intravenous antibiotics are frequently the treatment, as in people without MSS. There is no specific treatment for the advanced bone age. Because feeding can be difficult for children with MSS, a gastrostomy is often needed, and feeding is done directly through the gastrostomy tube. It is a challenge to make sure children with MSS maintain proper growth.