Health and Fitness

 Gaucher Disease Overview Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures. If the bone marrow is affected, it can interfere with your blood's ability to clot. An enzyme that breaks down these fatty substances doesn't work properly in people with Gaucher disease. Treatment often includes enzyme replacement therapy. An inherited disorder, Gaucher disease is most common in Jewish people of Eastern and Central European descent (Ashkenazi). Symptoms can appear at any age.  SYMPTOMS There are different types of Gaucher disease, and signs and symptoms of disease vary widely, even within the same type. Type 1 is by far the most common. Siblings, even identical twins, with the disease can have different levels of severity. S...

 Myokymia summery Myokymia refers to a twitching or spasming of the eyelid. Twitches are brief or continuous involuntary contractions of a single muscle or group of muscles.  This can occur in either the lower or upper eyelid, or both at the same time. However, myokymia most commonly occurs in one eyelid at a time.  This phenomenon can range from being very noticeable to virtually undetectable. Causes & Risk Factors The causes of myokymia are not well understood. This condition can be related to stress, excessive intake of caffeine, dehydration, and nutrient deficiencies. Accordingly, chronic and intensive stress, high levels of caffeine consumption, a lack of fluid intake, and poor diet are risk factors for myokymia.  Deficiency in electrolytes, vitamin B12, vitamin D, and magnesium can potentially trigger this condition. Some medications may also lead to spasming of the eye, such as certain antidepressants, antihistamines, cholesterol drugs, neuroleptics, and d...

 Growth Hormone Resistance Summary Growth hormone insensitivity (GHI) is a group of extremely rare genetic disorders in which the body is unable to use the growth hormone that it produces. GHI can be caused by mutations in the growth hormone receptor (GHR) gene or mutations in genes involved in the action pathway within the cell after growth hormone binds to its receptor, preventing production of insulin-like growth factor (IGF-1), the substance responsible for the growth effects of growth hormone. Even more rarely, children with a GH gene deletion who have been treated with recombinant GH develop antibodies that block GH binding to its receptor. Affected children fail to grow normally. Children with GHRD who are treated with IGF-1 before puberty have improved growth, but, unlike children with GH deficiency given recombinant GH treatment, they do not have normal growth restored. Treatment for these conditions is only effective while the growing bones are still open, i.e. before the...

 Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism Disease Overview Kallmann syndrome (KS) is a rare genetic disorder in humans that is defined by a delay/absence of signs of puberty along with an absent/impaired sense of smell. A closely related disorder, normosmic idiopathic hypogonadotropic hypogonadism (nIHH), refers to patients with pubertal failure but with a normal sense of smell. Both KS and nIHH are due to an isolated deficiency of a key reproductive hormone called gonadotropin-releasing hormone (GnRH). KS and nIHH occurs in both sexes but males are more commonly diagnosed with this condition. Patients with KS/nIHH typically present at adolescence due to the delay in the onset of physical changes associated with puberty. KS patients are often aware of their lack of sense of smell but most may not have sought medical advice for this symptom. While these reproductive symptoms predominate in their presentation, non-reproductive features that may be present in KS/...

BEST DISEASE SUMMARY Best disease, also known as vitelliform macular dystrophy, is an inherited retinal disease causing macular degeneration. The retina is a thin piece of tissue lining the back of the eye. Rod and cone photoreceptors in the retina convert light into electrical signals that the brain interprets as vision. Best disease affects the macula, the central part of the retina, and is characterized by loss of central vision, as well as the ability to perceive colors and details. Symptoms Although the age of onset for those with Best disease can vary, it is usually diagnosed during childhood or adolescence. In the initial stages, a bright yellow cyst (fluid-filled sac) forms under the retinal pigment epithelium (RPE) beneath the macula. The RPE is a layer of cells that provides support for photoreceptors. Upon examination by an eye doctor, the cyst looks like a sunny-side-up egg. Despite the presence of the cyst, visual acuity may remain normal or near normal for many years. Per...

 Ewing Sarcoma Overview Ewing (YOO-ing) sarcoma is a rare type of cancer that occurs in bones or in the soft tissue around the bones. Ewing sarcoma most often begins in the leg bones and in the pelvis, but it can occur in any bone. Less often, it starts in the soft tissues of the chest, abdomen, limbs or other locations. Ewing sarcoma is more common in children and teenagers, but it can occur at any age. Major advancements in the treatment of Ewing sarcoma have helped to improve the outlook for people with this cancer. After completion of treatment, lifelong monitoring is recommended to watch for potential late effects of intense chemotherapy and radiation. Symptoms Signs and symptoms of Ewing sarcoma include: Pain, swelling or tenderness near the affected area Bone pain Unexplained tiredness Fever with no known cause Losing weight without trying When to see a doctor Make an appointment with your doctor if you or your child experiences any persistent signs and symptoms that worry y...

  WAGR Syndrome Summary WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and Range of developmental delays. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the genetic change inherited. SYMPTOMS Symptoms of this disease may start to appear as a Newborn. The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during...