Diseases

Bile Acid Synthesis

Bile Acid Synthesis Disorders due to single enzyme defects are a group of rare genetic disorders that affect the enzymes responsible for making normal, healthy bile acids. A mutation, or change, in one’s DNA prevents formation of normal bile acids and causes abnormal, toxic bile acids to build up. This disrupts bile production and flow from the liver to the small intestine. Individuals with BASD lack the ability to produce primary bile acids, cholic acid (CA) and chenodeoxycholic acid (CDCA), and as a result produce abnormal bile acids which are known to be toxic for the liver. There are 2 broad classes of Bile Acid Synthesis Disorder: single enzyme defects and peroxisomal disorders. Single enzyme defects affect specific enzymes involved in the synthesis of bile acids.

Various types of BASD are responsible for 1% to 3% of neonatal cholestasis. The estimated prevalence of neonatal cholestasis is estimated at about 1 in 2500 births. These disorders have a considerably different presentation than that of most other cholestatic diseases.

Bile duct cancer

Bile duct cancer ( also known as cholangiocarcinoma) is a form of cancer that is composed of mutated epithelial cells (or cells showing characteristics of epithelial differentiation) that originate in the bile ducts which drain bile from the liver into the small intestine. Other biliary tract cancers include gallbladder cancer and cancer of the ampulla of Vater.

Bile duct cancer is a relatively rare neoplasm that is classified as an adenocarcinoma (a cancer that forms glands or secretes significant amounts of mucins). It has an annual incidence rate of 1–2 cases per 100,000 in the Western world, but rates of cholangiocarcinoma have been rising worldwide over the past few decades.

Bile duct cysts

Bile duct cysts: The formation of a cyst (dilation or swelling) in the bile duct which can obstruct the flow of bile and result in jaundice.

Biliary atresia

Biliary atresia (extrahepatic ductopenia, progressive obliterative cholangiopathy), is a childhood disease of the liver in which one or more bile ducts are abnormally narrow, blocked, or absent. It can occur as a birth defect or as an acquired disease. As a birth defect in newborn infants, it has an incidence of one in 10,000 to 15,000 cases in live births in the United States, with the most accurate prevalence recorded at one in 16,700 in the British Isles. Biliary atresia is most common in East Asia, with a frequency of one in 5,000. In the congenital form, the common bile duct between the liver and the small intestine is either blocked or absent. The causes of biliary atresia are not well understood. Congenital biliary atresia has been associated with certain genes, while acquired biliary atresia is thought to be the result of an autoimmune inflammatory response, possibly to a viral infection of the liver soon after birth. The only effective treatments are certain surgeries such as the Kasai procedure and liver transplantation.

Biliary atresia- extrahepatic

EHBA is a progressive congenital disorder that destroys the external bile duct structure of the liver, impairing normal bile flow (cholestasis). The condition affects one in 10,000 to 20,000 newborns and is the most frequent liver surgical disorder in infants. More common in females, its cause is unknown. Infants with EHBA typically appear healthy at birth, with normal development and weight gain. As EHBA grows worse, growth may be retarded.

Biliary atresia- intrahepatic- syndromic form

Biliary atresia, intrahepatic, syndromic form: Congenital obstruction of the passages in the liver that carry bile. The syndromic form is associated with other congenital abnormalities such as heart and visceral defects.

Biliary cirrhosis

Primary biliary cirrhosis is an autoimmune disease of the liver marked by the slow progressive destruction of the small bile ducts (bile canaliculi) within the liver. When these ducts are damaged, bile builds up in the liver (cholestasis) and over time damages the tissue. This can lead to scarring, fibrosis and cirrhosis.It was previously thought to be a rare disease, but more recent studies have shown that it may affect up to 1 in 3-4,000 people; the sex ratio is at least 9:1 (women to men).

Biliary hypoplasia

Biliary hypoplasia: An underdeveloped biliary duct system which is involved in transporting bile. The bile ductules may be completely absent or be fewer in number than normal.

Biliary malformation renal tubular insufficiency

Biliary malformation with renal tubular insufficiency. Familial. Inheritable malformation syndrome with hypoplasia of the external and internal bile ducts, proximal tubulusinsufficiency of the Fanconi’s syndrome type, skeletal malformations and muscular hypotonia. Neonatal jaundice. Failure to thrive. Repeated infections. Occasionally micrognathia, low-set ears, highly arched palate, barrel chest, club feet, hypotonia. Death occurs within few months.

Biliary tract cancer

Biliary Tract Cancer involves cancerous growths in the gallbladder and/or the bile duct. The uncontrolled epithelial cell growth occurs in the inner lining of the gallbladder and bile duct. These cancerous tumours block the flow of bile as it grows. Biliary Tract Cancer only make up only 2 to 3 percent of all cancers, hence, it is very rare. It is most likely for people that are 60 to 70 years of age to be diagnosed with this cancer, and more common in men. Obesity may also increase the risk of getting biliary tract cancer. Procedures such as magnetic resonance imaging, endoscopic ultrasonography, bile duct biopsy are usually performed to clearly detect cancerous cells in the organs. The only diagnosis of biliary tract cancer is to surgically remove the gallbladder. However, treatment using chemotherapy is currently under research and testing

Bilirubin induced brain injury in the newborn

Bilirubin induced brain injury in the newborn (medical condition): A rare condition involving high blood levels of bilirubin which can also accumulate in the brain and lead to neurological problems

Billet Bear syndrome

Billet bear syndrome (medical condition): A very rare syndrome characterized mainly by the complete or partial absence of the kidneys as well as partial duplication of the lower leg.

Binswanger’s disease

Binswanger's disease, also known as subcortical leukoencephalopathy, is a form of small vessel vascular dementia caused by damage to the white brain matter. White matter atrophy can be caused by many circumstances including chronic hypertension as well as old age. This disease is characterized by loss of memory and intellectual function and by changes in mood. These changes encompass what are known as executive functions of the brain. It usually presents between 54 and 66 years of age, and the first symptoms are usually mental deterioration or stroke.

It was described by Otto Binswanger in 1894, and Alois Alzheimer first used the phrase "Binswanger's disease" in 1902. However, Olszewski is credited with much of the modern-day investigation of this disease which began in 1962.

Biotinidase deficiency

Biotinidase deficiency is an autosomal recessive metabolic disorder in which the body is not able to process the nutrient biotin properly. Biotin, sometimes called vitamin H, is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates and proteins. Biotin Deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizure.

Biphenotypic acute leukaemia

Biphenotypic acute leukaemia (BAL) is a rare form of leukemia that has myeloid and lymphoid features. It is a subtype of "leukemia of ambiguous lineage.

It is an uncommon disease and as strict diagnostic criteria have only recently been established, the precise incidence among acute leukaemias is uncertain, although it is likely to account for approximately 5% of all acute leukaemias. BAL can be de novo or secondary to previous cytotoxic therapy. It has been included in the WHO classification of haemopoietic malignancies as acute leukaemia of ambiguous lineage.

Bipolar disorder

Bipolar disorder is a psychiatric diagnosis for a mood disorder in which people experience disruptive mood swings that encompass a frenzied state known as mania (or hypomania) and, usually, symptoms of depression.

Bipolar disorder is defined by the presence of one or more episodes of abnormally elevated energy levels, cognition, and mood with or without one or more depressive episodes. Individuals who experience manic episodes also commonly experience depressive episodes, or symptoms, or a mixed state in which features of both mania and depression are present at the same time. These events are usually separated by periods of "normal" mood; but, in some individuals, depression and mania may rapidly alternate, which is known as rapid cycling. Severe manic episodes can sometimes lead to such psychotic symptoms as delusions and hallucinations.

The lifetime prevalence of all types of bipolar disorder is thought to be about 4% (meaning that about 4% of people experience some of the characteristic symptoms at some point in their life). Prevalence is similar in men and women and, broadly, across different cultures and ethnic groups.

Birdshot chorioretinopathy

Birdshot chorioretinopathy, also called birdshot retinochoroidopathy, is a rare form of bilateral posterior uveitis affecting the eye. It causes severe, progressive inflammation of both the choroid and retina. Affected individuals are usually diagnosed around age 45, a common age of onset

Bixler Christian Gorlin syndrome

Bixler-Christian-Gorlin syndrome: A very rare syndrome characterized primarily by widely spaced eyes, small ears and a clefts in the lip, palate and nose.

Bjornstad syndrome

Björnstad syndrome: [MIM*262000] pili torti associated with sensorineural hearing loss, the severity of distortion and brittleness of the hair correlated with the degree of hearing impairment; autosomal dominant inheritance.

Bladder cancer

Bladder cancer is a type of cancer that begins in your bladder — a balloon-shaped organ in your pelvic area that stores urine. Bladder cancer begins most often in the cells that line the inside of the bladder. Bladder cancer typically affects older adults, though it can occur at any age.

source: MayoClinic

Bladder neoplasm

Bladder neoplasm is any of several types of cancer arising from the epithelial lining (i.e., the urothelium) of the urinary bladder. Rarely the bladder is involved by non-epithelial cancers, such as lymphoma or sarcoma, but these are not ordinarily included in the colloquial term "bladder cancer." It is a disease in which abnormal cells multiply without control in the bladder.

The most common type of bladder cancer recapitulates the normal histology of the urothelium and is known as transitional cell carcinoma or more properly urothelial cell carcinoma. Five-year survival rates in the United States are around 77%.

Blaichman syndrome

Blaichman syndrome: A very rare genetic disorder characterized by a malformation where there is an opening between the trachea and esophagus. Webbing of the fifth finger is also present.

Blastic plasmacytoid dendritic cell neoplasm

Blastic plasmacytoid dendritic cell neoplasm (BPDCN, blastic NK-cell lymphoma, agranular CD4+ NK-cell leukemia, blastic NK leukemia/lymphoma, agranular CD4+ CD56+ hematodermic neoplasm) is a rare, highly aggressive tumor that is caused by white blood cells (lymphoma). Reddish-brown nodules or bruise-like lesions on the skin are usually the only sign of the disease. This kind of tumor is treated with chemotherapy and stem cell therapy. The prognosis of patients with BPDCN is poor with a median survival of 12-14 months, although recent successes in stem cell therapy give rise to hope.

Blastoma

A blastoma is a type of cancer that is caused by malignancies in precursor cells, often called blasts. Examples are nephroblastoma, medulloblastoma and retinoblastoma

Blastomycosis

Blastomycosis is a rare infection caused by breathing in (inhaling) a fungus called Blastomyces dermatitidis, which is found in wood and soil.

Blepharo naso facial syndrome Van maldergem type

Van Maldergem et al. (1992) described a new syndrome in an 11-year-old girl, characterized by: mental retardation, hypotonia, dysmorphic facies with telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth, malformed ears, finger camptodactyly, and joint hyperlaxity. In this report we present a 5-year-old girl with very similar clinical findings. We confirm the existence of this condition as an independent clinical entity, and we propose that, based on the major clinical manifestations, it should be defined as "cerebro-facio-articular" syndrome