Health and Fitness

  Polycystic kidney disease Overview Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large. Having many cysts or large cysts can damage your kidneys. Polycystic kidney disease can also cause cysts to develop in your liver and elsewhere in your body. The disease can cause serious complications, including high blood pressure and kidney failure. PKD varies greatly in its severity, and some complications are preventable. Lifestyle changes and treatments might help reduce damage to your kidneys from complications. Symptoms Polycystic kidney disease symptoms can include: High blood pressure Back or side pain Blood in your urine A feeling of fullness in your abdomen Increased size of your abdomen due to enlarged kidneys Headaches Kidney stones Kidney failure...

  Gorham-Stout disease Overview Children with Gorham-Stout disease experience gradual bone loss (osteolysis) caused by an abnormal overgrowth of lymphatic vessels. These vessels are a normal part of the body’s lymphatic system, which transports a clear fluid containing white blood cells called lymph around the body to help clear toxins and waste. In patients with Gorham-Stout, these thin-walled lymphatic vessels expand (dilate) and multiply, leading to the rapid breakdown of bone (bone resorption). In children and young adults, bone resorption is a normal process of bone growth, in which new bone replaces old. For those with Gorham-Stout, the overgrown lymphatic vessels may change the balance of bone formation and loss, leading to loss of bone and presence of lymphatic vessels where bone used to be. Gorham-Stout disease (GSD), which is also known as vanishing bone disease, disappearing bone disease, massive osteolysis, and more than a half-dozen other terms in the medical literatur...

 Gordon syndrome Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. Gordon syndrome is an extremely rare disorder that belongs to a group of genetic disorders known as the distal arthrogryposes. These disorders typically involve stiffness and impaired mobility of certain joints of the lower arms and legs (distal extremities) including the knees, elbows, wrists, and/or ankles. These...

 Goblet Cell Adenocarcinoma OVERVIEW Goblet cell adenocarcinomas (GCA) of the appendix are a subtype of appendiceal cancer. GCA are defined by a unique combination of two types of cancer cells – neuroendocrine (carcinoid) and epithelial (adenocarcinoma). These tumors are more aggressive than neuroendocrine tumors and are now treated and staged like appendiceal adenocarcinomas. They are extremely rare with an estimated incidence of 1 per 2 million individuals. The average age of onset is between 50 and 60 years, most patients are Caucasian (>80%) and they affect males and females equally. They most typically present either as appendicitis or with abdominal pain and a mass. In females, they often spread to the ovaries and can be easily confused with ovarian cancer. Making the diagnosis of GCA requires the examination of a tumor specimen. While GCA tend not to spread to other parts of the body outside the abdomen, they frequently spread inside the abdominal cavity. This condition i...

 GNE Myopathy OVERVIEW GNE myopathy, also known as HIBM, Nonaka myopathy, IBM2 and distal myopathy with rimmed vacuoles, is a genetic disorder that affects primarily the skeletal muscles (muscles that the body uses to perform daily physical activity). First signs of the disease appear between 20 and 40 years of age and affect males and females at the same rate. This condition is characterized by progressive muscle weakness which typically worsens over time, decreased grip strength and frequent loss of balance. 1,2 GNE myopathy is caused by changes (mutations) in the GNE gene, which encodes for an enzyme known as glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase. The enzyme is responsible for the production of sialic acid (SA), a sugar required by all cells including muscle to produce energy as well as an important component of cell membranes. The condition is inherited in an autosomal recessive manner.3 Currently, there is no cure for the disease and treatment is fo...

  Glycogen Storage Disease Type 7 OVERVIEW Glycogen storage diseases are a group of diseases where the body’s form of stored energy (glycogen) cannot be broken down into smaller pieces of sugars (glucose) for the body to use. People with glycogen storage disease type 7 (GSD7) usually have symptoms during childhood, but some people may have symptoms beginning as infants or later as adults. GSD7 symptoms are Muscle weakness, pain, cramps and stiffness Nausea, and vomiting during exercise GSD7 is caused by harmful changes (mutations) in the gene for muscle phosphofructokinase (PFKM) that leads to lowered activity (deficiency) in the phosphofructokinase enzyme, the protein that breaks down glycogen to glucose. The lack of this enzyme leads to a decreased amount of energy available to muscles during exercise. GSD7 is passed down in families in an autosomal recessive pattern of inheritance. There is no specific cure or treatment for GSD7, but people with GSD7 are recommended to avoid hea...

 Glutathione Synthetase Deficiency OVERVIEW Glutathione synthetase deficiency is an extremely rare disorder characterized by a deficiency of the enzyme glutathione synthetase. This enzyme is part of the chemical process by which the body creates glutathione, a protein molecule that plays a role in many cell processes. Glutathione synthetase deficiency is often classified as mild, moderate or severe. Consequently, the specific symptoms and severity can vary greatly from one person to another. Generally, the mild form only affects red blood cells (erythrocytes). The severe form is widespread (generalized) affecting many types of cells of the body. The moderate form falls in between these two extremes. Glutathione synthetase deficiency is caused by alterations (mutations) in the GSS gene and is inherited in an autosomal recessive manner. The generalized form is also known as 5-oxoprolinuria or pyroglutamic aciduria because extremely high levels of 5-oxoproline, an amino acid derivativ...