Category: B

Hematuria is defined as the presence of blood in the urine. It may be further classified as gross hematuria (enough blood to make the urine look abnormal to the naked eye) or microscopic hematuria (blood can be detected only through chemical testing or microscopic examination). Gross hematuria may appear as a brown or cola-colored urine,…

Bullous pemphigoid is a skin disease in which the skin blisters severely. These blistered spots are most likely found in folds of skin such as the groin and armpit areas. Bullous pemphigoid is a rare disorder that is most often found in elderly persons, with the average age at onset being 65 to 75. However,…

Osteogenesis imperfecta (01), commonly known as brittle bone disease, is a genetic disorder in which the production of collagen is inadequate or defective collagen is produced, leading to a susceptibility of bone fractures. An individual with 01 may suffer as little as a few to several hundreds of bone fractures over a lifetime. The wide…

A brain tumor is a new growth of tissue in the brain in which cell multiplication is uncontrolled and progressive. It grows independent of surrounding structures and has no physiological use. Brain tumors in children are typically primary tumors; that is, the tumor originates at the site rather than having migrated from another organ (e.g.,…

Borjeson-Forssman-Lehmann syndrome (BFLS) is an X- linked, possibly incompletely recessive, genetic disorder characterized by numerous dysmorphic anomalies, obesity, hypogonadism, epilepsy, and mental retardation. The full expression in males results in more severe symptoms, whereas penetrance in carrier females appears to be associated with variable X-chromosome inactivation. In heterozygous women, the phenotypic effects vary widely between…

Blue diaper syndrome is a metabolic disorder caused by the incomplete breakdown of the dietary nutrient and obligatory serotonin (5-HT) precusor tryptophan. Excessive amounts of tryptophan are broken down by intestinal bacteria, thus converting the excessive tryptophan into indican. The indican is then absorbed by the intestinal wall and excreted in urine, thus causing the…

Bipolar affective disorder (BAD) is a mood disorder that is characterized by distinct periods of depression and manic episodes. Manic episodes are characterized by elevated mood, grandiosity, pressured speech, racing thoughts, distractibility, decreased need for sleep, increased goal- directed behavior, and extreme involvement in pleasurable (but reckless) activities. Depressive episodes are often characterized by diminished…

Bernard-Soulier syndrome is a disorder of platelet dysfunction, presenting with severe and prolonged bleeding periods, below-normal blood platelet counts, and thrombocytopenia. The underlying defect of this genetic disorder is an absence or decreased expression of the glycoprotein Ib- IX-V complex on the surface of platelets, resulting in defective platelet adhesion. Encounter a genetic disorder that…

Benign essential tremor (BET) is characterized by rapid rhythmic movements that are pronounced during active muscle innervation. The tremors are decreased or absent during rest and sleep. BET typically presents as a postural tremor that gets worse during action and sustained posturing. BET is also referred to as a familial tremor, intention tremor, and hereditary…

Beckwith-Wiedemann syndrome (BWS) is a rare disorder recognized primarily by a consistent grouping of findings of unknown etiology (Ocean State Online, 2001) and is characterized by excessive size and height at birth. For instance, in many males, birth length may be at or above the 95th percentile. Typically, their height remains within this range throughout…