Twin-to-twin transfusion syndrome (TTTS), also known as feto-fetal transfusion syndrome (FFTS) and twin oligohydramnios-polyhydramnios sequence (TOPS) is a complication of disproportionate blood supply, resulting in high morbidity and mortality. It can affect monochorionic multiples, that is, multiple pregnancies where two or more fetuses share a chorion and hence a single placenta. Severe TTTS has a 60–100% mortality rate.
A condition characterized by thickening of the skin on the palms of the hands and soles of the feet. The condition is associated with a risk of developing esophageal cancer which increases with age.
Macular telangiectasia also called as Idiopathic Juxtafoveal Macular Telangiectasia, is a poorly understood disease that is characterized by abnormalities of the tiny blood vessels around the fovea of the macula. Macular telangiectasia may occur as a result of a retinal vascular disease or a systemic disease such as diabetes or hypertension, but in many cases, clinical findings reveal no known cause. In these cases, the term “idiopathic” is used.
Continued advances in imaging technologies are allowing more to be discovered about this disease. Researchers now suspect that the disease is not nearly as rare as once thought, and it appears to have two distinct forms. The disease is now able to be divided into Type 1 macular telangiectasia and Type 2 macular telangiectasia.
Type 2 macular telangiectasia is also called idiopathic juxtafoveal telangiectasia or idiopathic perifoveal telangiectasia. Juxtafoveal or perifoveal refer to the abnormalities in the blood vessels near, or around, the fovea of the macula.
Typhoid fever,(also known simply as typhoid), is a bacterial infection due to Salmonella typhi that causes symptoms. Symptoms may vary from mild to severe and usually begin six to thirty days after exposure. Often there is a gradual onset of a high fever over several days. Weakness, abdominal pain, constipation, and headaches also commonly occur. Diarrhea is uncommon and vomiting is not usually severe. Some people develop a skin rash with rose colored spots. In severe cases there may be confusion.Without treatment symptoms may last weeks or months. Other people may carry the bacterium without being affected; however, they are still able to spread the disease to others. Typhoid fever is a type of enteric fever along with paratyphoid fever.
Several different illnesses are called "typhus," all of them caused by one of the bacteria in the family Rickettsiae. Each illness occurs when the bacteria is passed to a human through contact with an infected insect.
A rare condition where a deficiency of a liver enzyme (tyrosinase aminotransferase) causes tyrosine levels in the blood to increase and result in eye problems, mental retardation and horny skin lesions.
Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner.
Tyrosinemia type I, the most severe form of this disorder, is characterized by signs and symptoms that begin in the first few months of life. Affected infants fail to gain weight and grow at the expected rate (failure to thrive) due to poor food tolerance because high-protein foods lead to diarrhea and vomiting. Affected infants may also have yellowing of the skin and whites of the eyes (jaundice), a cabbage-like odor, and an increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones (rickets), and an increased risk of liver cancer (hepatocellular carcinoma). Some affected children have repeated neurologic crises that consist of changes in mental state, reduced sensation in the arms and legs (peripheral neuropathy), abdominal pain, and respiratory failure. These crises can last from 1 to 7 days. Untreated, children with tyrosinemia type I often do not survive past the age of 10.
Ubiquitin is a small regulatory protein that has been found in almost all tissues of eukaryotic organisms.
Ubiquitin disorder is a newly discovered condition in which the spent protein isn’t flushed from the neurological cells by the ubiquitin system. The protein becomes a tangled mass that blocks the signal from the brain to the muscles, eventually affecting the use of the limbs, swallowing, speech, breathing and other bodily functions requiring muscles.
There are many other diseases where the ubiquitin pathway has been implicated in the pathogenesis:
neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS), Parkinsons Disease, and Alzheimers Disease; Angelman Syndrome; Von Hippel-Lyndau Syndrome; Fanconi Anemia; and 3M Syndrome to name a few.
A rare congenital heart malformation where the myocardial layer (muscle wall of the heart) of the right ventricle is completely or partially absent.
Ulcerative colitis (UC) is a form of inflammatory bowel disease (IBD) that causes inflammation and ulcers in the colon. The disease is a type of colitis, which is a group of diseases that cause inflammation of the colon, the largest section of the large intestine, either in segments or completely. The main symptom of active disease is diarrhea mixed with blood.
Ulcerative colitis newly occurs in 1 to 20 people per 100,000 per year, and about 8 to 246 per 100,000 individuals are affected. The disease is more common in northern regions of the world. Rates tend to be higher in wealthier countries, which may indicate the increased rate is due to better diagnosis. It may also indicate that an industrial or Western diet and lifestyle increases the rate of disease, including symptoms which may or may not be related to ulcerative colitere is a presumed genetic risk. The disease may be triggered in a susceptible person by environmental factors. Dietary modification may reduce the discomfort of a person with the disease. is. Ulcerative colitis can be debilitating and sometimes can lead to life-threatening complications. While it has no known cure, treatment can greatly reduce signs and symptoms of the disease and even bring about long-term remission.
A rare genetic disorder involving a slowly spreading redness of the eyebrows and cheeks followed by damage to the skin and loss of eyebrows.
A condition which is characterised by short upper limbs, club feet, and absence of fingernails.
A rare genetic disorder characterized mainly by thickening of the wrist bones and a part of the lower back bone (dorsum sellae).
A condition which is characterised by ulnar hypoplasia with lobster claw deformity of the feet.
A rare genetic condition characterized by extra or missing digits, breast and dental abnormalities.
A condition which is characterised by umbilical cord ulceration and intestinal atresia.
A syndrome which is characterised by an abnormality in the structure of hair resulting in it being uncombable.
undifferentiated embryonal sarcoma of the liver is a rare tumor, and considered as an aggressive neoplasm with very poor prognosis.
A syndrome which is characterised by an abnormality in the structure of hair resulting in it being uncombable
A condition which is characterised by the uniparental disomy of chromosome 11.
A condition which is characterised by the uniparental disomy of chromosome 12.
A condition which is characterised by the uniparental disomy of chromosome 2.
A condition which is characterised by the uniparental disomy of chromosome 14.
A cyst which occurs in the remnants between the umbilicus and bladder
A condition which is characterised by the early obstruction of the urethra.
A tumor that develops anywhere along the urinary tract. The urinary tract includes the kidneys, urethra and ureters. The tumor may be malignant or benign.
A syndrome characterised by multiple abnormalities
A condition characterised by the deficiency of the urocanase enzyme.
A very rare inherited disorder characterized by an unusual face and abnormalities in organs involved with urination.