Diseases

Trachoma

Trachoma (also called granular conjunctivitis, Egyptian ophthalmia, and blinding trachoma), is an infectious disease caused by the bacterium Chlamydia trachomatis. The infection causes a roughening of the inner surface of the eyelids. This roughening can lead to pain in the eyes, breakdown of the outer surface or cornea of the eyes, and possibly blindness. Untreated, repeated trachoma infections can result in a form of permanent blindness when the eyelids turn inward.

The bacteria that cause the disease can be spread by both direct and indirect contact with an affected person's eyes or nose. Indirect contact includes through clothing or flies that have come into contact with an affected person's eyes or nose. Children spread the disease more often than adults. Poor sanitation, crowded living conditions, and not enough clean water and toilets also increase spread.

Efforts to prevent the disease include improving access to clean water and decreasing the number of people infected by treatment with antibiotics. This may include treating, all at once, whole groups of people in whom the disease is known to be common. Washing by itself is not enough to prevent disease but may be useful with other measures. Treatment options include oral azithromycin and topical tetracycline. Azithromycin is preferred because it can be used as a single oral dose. After scarring of the eyelid has occurred, surgery may be required to correct the position of the eyelashes and prevent blindness.

Globally, about 80 million people have an active infection. In some areas infections may be present in as many as 60–90% of children and it more commonly affects women than men likely due to their closer contact with children. The disease is the cause of a poor ability to see in 2.2 million people of which 1.2 million are completely blind. It commonly occurs in 53 countries of Africa, Asia, Central and South America with about 230 million people at risk. It results in 8 billion USD of economic losses a year. It belongs to a group of diseases known as neglected tropical diseases.

Tranebjaerg Svejgaard syndrome

Tranebjaerg-Svejgaard syndrome: A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder.

Transcobalamin 2 deficiency

Transcobalamin 2 deficiency: A rare genetic syndrome involving a lack of transcobalamin 2 which is needed to transport vitamin B12 to various parts of the body.

Transient bullous dermolysis of the newborn

Transient bullous dermolysis of the newborn: A rare blistering skin disorder that affects infants and is inherited in a dominant manner. The blistering usually only occurs during the first year of life. The blisters tend to occur mainly on the extremities and other parts of the body that receive more friction.

Transient erythroblastopenia of childhood

Transient erythroblastopenia of childhood: A rare disorder where new red blood cells are not temporarily not produced. Symptoms become increasingly noticeable as the existing supply of mature red blood cells gradually die and aren't replaced. Symptoms improve once red blood cell production starts again. The condition is believed to possibly be triggered by a Parvovirus B19 infection.

Transient Global Amnesia

Transient global amnesia is a sudden, temporary episode of memory loss that can't be attributed to a more common neurological condition, such as epilepsy, transient ischemic attack, stroke or head injury. During an episode of transient global amnesia, your recall of recent events simply vanishes, so you can't remember where you are or how you got there. You may also draw a blank when asked to remember things that happened a day, a month or even a year ago. You do remember who you are, and you recognize family members and others you have known for a long time, but that knowledge doesn't make your memory loss any less disturbing. Transient global amnesia would be even more distressing if it recurred more often or lasted longer than it does. The condition is rare to start with, and among the few who do have one episode, a second episode is uncommon. Also, episodes of transient global amnesia last only six hours, on average — although an episode of any length is frightening to witness or experience. When an episode of transient global amnesia is over, you remember nothing that happened while your memory was impaired, and you might not recall the hours beforehand. Otherwise, though, your memory is fine.

Transitional cell carcinoma

Transitional cell carcinoma (TCC, also urothelial cell carcinoma or UCC) is a type of cancer that typically occurs in the urinary system: the kidney, urinary bladder, and accessory organs. It is the most common type of bladder cancer and cancer of the ureter, urethra, and urachus. It is the second most common type of kidney cancer, but accounts for only five to 10 percent of all primary renal malignant tumors.

TCC arises from the transitional epithelium, a tissue lining the inner surface of these hollow organs. It can extend from the kidney collecting system to the bladder – “Creeping Tumor”.

When the term “urothelial” is used, it specifically refers to a carcinoma of the urothelium, meaning a TCC of the urinary system.

Translocation Renal Cell Carcinoma

Xp11 translocation renal cell carcinomas (RCCs) are a distinctive subtype of RCC characterized by chromosomal translocations with breakpoints involving the TFE3 transcription factor gene, which maps to the Xp11.2 locus. The result is a fusion of the TFE3 transcription factor gene with one of multiple reported genes including ASPSCR1 ( ASPL), PRCC, NonO (p54nrb), SFPQ (PSF), and CLTC (Table 1). The three most common Xp11 translocation RCCs are those bearing the t(X;1)(p11.2;q21) which fuses the PRCC and TFE3 genes, the t(X;17)(p11.2;q25) which fuses the ASPSCR1 and TFE3 genes , and the t(X;1)(p11.2;p34) which fuses the SFPQ (PSF) and TFE3 genes. The ASPSCR1-TFE3 gene fusion is the same gene fusion found in alveolar soft part sarcoma (ASPS), a rare pediatric neoplasm of uncertain histogenesis. However, the translocation in Xp11 translocation RCC is balanced, which may contribute to the differences seen at the clinical and histopathologic levels between Xp11 translocation RCC and ASPS. Other reported but rare translocations are the inv (X)(p11.2;q12) which fuses the NonO (p54nrb) and TFE3 genes; the t(X;17)(p11.2;q23) which fuses the CLTC and TFE3 genes5 , and the t(X;3)(p11.2;q23)6 which fused the PARP14 and TFE3 genes. Variant translocations with no known fusion partner include t(X;10)(11.2;q23).

Xp11 translocation RCC were first recognized in children. Although RCC accounts for less than 5% of renal neoplasms in children, Xp11 translocation RCCs constitute a significant percentage of these cases. Approximately 40% of pediatric RCC have been classified as Xp11 translocation RCC, with a range from 20% to 75% of pediatric RCC cases among different series. The higher frequencies have generally come from single institution series, which may be less biased than multi-institution, tumor-repository based series.

The frequency of Xp11 translocation RCC in adults may be underestimated, perhaps due to morphological overlap with more common adult RCC subtypes, such a conventional clear cell RCC and papillary RCC. The frequency ranges from 1-4% in different studies. While Xp11 translocation RCC is therefore on a percentage basis rare in adults, RCC is overall much more common in adults than in children. If there are approximately 30,000 new cases of RCCs in adults each year, 4.2 % of 30,000 cases would total 1,260 adult Xp11 translocation RCC per year. In contrast, 40% of the 25 pediatric RCC in the United States would total 10 pediatric Xp11 translocation RCC per year. Thus, adult Xp11 translocation RCC may outnumber pediatric Xp11 translocation RCC by orders of magnitude due to the much higher incidence of RCC in the adult population.

Prior exposure to cytotoxic chemotherapy is currently the only known risk factor for development of Xp11 translocation RCC: up to 15% of patients with these tumors had a history of prior chemotherapy exposure. Indications for chemotherapy have included Wilms tumor, Ewing sarcoma, systemic lupus erythematosus (SLE), acute leukemia, and bone marrow transplant. The post-chemotherapy interval ranged from 4-13 years, though more recent studies have documented occurrence of Xp11 translocation RCC within 2 years of chemotherapy. All reported patients received either a DNA topoisomerase II inhibitor and/or an alkylating agent. Although they have differing mechanisms of action, both cytotoxic agents break DNA, which may initiate repair or recombination mechanisms that permit a chromosome translocation to occur.

Transplacental infections

Transplacental infections: An infection that passes from the mother to the fetus via the placenta. A large variety of infections can occur like this and the type and severity of symptoms can vary greatly depending on the type of infection and the stage of fetal development at which infection occurs. Examples of transplacental infections include cytomegalovirus, herpes virus, hepatitis, syphilis, toxoplasmosis and rubella.

Transposition of great arteries

Transposition of the great arteries is a congenital (present at birth) heart defect. Due to abnormal development of the fetal heart during the first 8 weeks of pregnancy, the large vessels that take blood away from the heart to the lungs, or to the body, are improperly connected. Normally, oxygen-poor (blue) blood returns to the right atrium from the body, travels to the right ventricle, then is pumped through the pulmonary artery into the lungs where it receives oxygen. Oxygen-rich (red) blood returns to the left atrium from the lungs, passes into the left ventricle, and then is pumped through the aorta out to the body.

Transthyretin Amyloid Cardiomyopathy (ATTR-CM)

Transthyretin amyloid cardiomyopathy is a rare but severe cause of restrictive cardiomyopathy, caused by the accumulation of transthyretin fibrils in the myocardium. It can present with new or worsening heart failure or new conduction system disease. Due to the lack of knowledge and efficient diagnostic modalities, this disease was often missed in clinical settings. However, with the advent of contemporary cardiac imaging techniques and effective therapeutic options, early diagnosis and treatment are possible. This activity reviews the pathophysiology, diagnosis, and treatment of Transthyretin amyloid cardiomyopathy and highlights the role of the interprofessional team in evaluating and treating patients with this condition.

Transverse limb deficiency hemangioma

Transverse limb deficiency hemangioma (medical condition): See Transverse limb deficiency - hemangioma (disease information). Transverse limb deficiency - hemangioma: A rare disorder characterized by missing or short bones in a limb as well as a hemangioma

Transverse myelitis

Transverse myelitis is a neurological condition in which the spinal cord is inflamed. The inflammation damages nerve fibers, and causes them to lose their myelin coating leading to decreased electrical conductivity in the central nervous system. Transverse implies that the inflammation extends across the entire width of the spinal cord. Partial transverse myelitis and partial myelitis are terms used to define inflammation of the spinal cord that affects part of the width of the spinal cord.

Treacher Collins syndrome

Treacher Collins syndrome (TCS) is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. Treacher Collins syndrome is found in about one in 50,000 births. The typical physical features include downward-slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears.

Tremor hereditary essential- 1

Tremor hereditary essential, 1: An inherited movement disorder involving tremors which occurs mainly in the arms but other parts of the body are often involved. Any kind of stress on the body such as hunger and tiredness can aggravate the condition.

Tremor hereditary essential- 2

Tremor hereditary essential, 2: An inherited movement disorder involving tremors. Any kind of stress on the body such as hunger and tiredness can aggravate the condition.

Treponema infection

Treponema infection: A rare infectious diseases which is transmitted through sexual contact and caused by Treponema pallidum (a spirochete bacterium). Untreated cases can result in severe complications and even death.

Trichinellosis

Trichinosis, also called trichinellosis, or trichiniasis, is a parasitic disease caused by eating raw or undercooked pork and wild game infected with the larvae of a species of roundworm Trichinella spiralis, commonly called the trichina worm. The few cases in the United States are mostly the result of eating undercooked game, bear meat, or home reared pigs. It is most common in the developing world and where pigs are commonly fed raw garbage

Tricho onychic dysplasia

Tricho-onychic dysplasia: A rare genetic syndrome characterized by hair and nail abnormalities.

Tricho-dento-osseous syndrome

A rare genetic disorder characterized by kinky hair, tooth enamel and bone abnormalities. There are two different subtypes with type I being distinguished from type II by the presence of a small head and increased density in the long bones