Diseases

Torticollis- familial

Torticollis, familial (medical condition): A familial neck disorder where the neck movement is limited and the head is tilted to one side.

Torulopsis

Torulopsis (medical condition): A type of yeast infection caused by Torulopsis glabrata. The fungus is often found in normal healthy skin, respiratory system, genitourinary system and gastrointestinal system and it generally only becomes a problem in weakened or immunocompromised people. They type of symptoms are determined by where and how severe the infection is.

Total anomalous pulmonary venous connection

Total anomalous pulmonary venous connection (TAPVC), also known as total anomalous pulmonary venous drainage (TAPVD) and total anomalous pulmonary venous return (TAPVR), is a rare cyanotic congenital heart defect (CHD) in which all four pulmonary veins are malpositioned and make anomalous connections to the systemic venous circulation.(Normally, pulmonary venous return carries oxygenated blood from the lungs to the left atrium where it can then be pumped to the rest of the body). A patent foramen ovale or an atrial septal defect must be present, or else the condition is fatal due to a lack of systemic blood flow.

Total Hypotrichosis- Mari type

Total Hypotrichosis, Mari type: A rare inherited form of congenital alopecia (hair loss). It occurs primarily in the Mari population in a part of Russia.

Touraine-Solente-Golé syndrome

Touraine-Solente-Golé syndrome: A skin and bone condition characterized abnormal skin, finger clubbing and limb swelling.

Tourette syndrome

Tourette syndrome is a complex neurological disorder that is characterized by repetitive, sudden, uncontrolled (involuntary) movements and sounds (vocalizations) called tics. Tourette syndrome is named for Georges Gilles de la Tourette, a French physician and neurologist, who first described this disorder in 1885. A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. A small number of people with Tourette syndrome have been found to have mutations involving the SLITRK1 gene. The syndrome is believed to be linked to problems in certain areas of the brain, and the chemical substances (dopamine, serotonin, and norepinephrine) that help nerve cells talk to one another. 

It is estimated that about 1% of the population has Tourette syndrome. Many people with very mild tics may not be aware of them and never seek medical help. Tourette syndrome is four times as likely to occur in boys as in girls. Although Tourette syndrome can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood.

Townes-Brocks syndrome

Townes-Brocks syndrome (TBS) is a rare genetic disease that affects fewer than 200 people in the entire world.[1] It affects both males and females equally.[2] The condition was first identified in 1972.

Toxic Epidermal Necrolysis

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end.

These disorders are differentiated by the degree of skin detachment. The consensus definition published in 1993 states that SJS affects less than 10% of the body surface area; TEN affects more than 30% of the body surface area. The intermediate form, with 10 to 30 percent body surface area involvement, is called "SJS/TEN." Although there was initially debate about whether TEN and SJS fall on a spectrum of disease that includes erythema multiforme (EM), they are now considered separate conditions.

The reaction may start with a persistent fever and nonspecific, flu-like symptoms followed by appearance of erythematous macules (red spots) that may cover a large part of the body, and painful blistering of the skin and mucous membranes. The eyes are often involved. Numerous drugs have been reported to cause SJS and TEN and the following have shown an increased risk in larger studies: antibacterial sulfonamides, non-steroidal anti-inflammatory drugs of the oxicam type, certain anti-seizure drugs (antiepileptics), allopurinol and nevirapine. However, approximately one quarter (25%) of cases are not caused by drugs, but potentially by infections or have to be considered as idiopathic (of unknown cause).

Individuals suspected of SJS or TEN should immediately stop taking the offending drug if it is known and all nonessential medications if it is not. Prompt recognition and early treatment are essential. It is also important to note that these disorders represent a spectrum of disease ranging from mild cases to those with severe, life-threatening complications. Consequently, every case is unique and the description of symptoms below will not apply to all individuals.

Subdivisions of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis:

  • Stevens-Johnson Syndrome (SJS)
  • SJS/TEN-overlap
  • Toxic Epidermal Necrolysis (TEN)

Toxocariasis

Toxocariasis or toxocarosis is a helminthic infection of humans caused by the dog or cat roundworm, Toxocara canis or Toxocara cati, respectively. Humans can become infected by ingestion of embryonated eggs (containing fully developed larva, L3) from contaminated sources. There are two main syndromes: visceral larva migrans (VLM), which encompasses diseases associated with major organs; and ocular larva migrans (OLM), in which toxocariasis pathological effects on the host are restricted to the eye and the optic nerve.[1]

Tracheal agenesis

Tracheal agenesis, often referred to as Tracheascrosis, is a noninfectious disease that is due to hereditary and environmental causes. It is an extremely rare disease, and is predominately located in the North America, particularly the American Southwest. It is a nonfatal disease, but with cause severe trauma to the throat, and vocal cords.

Tracheal Cancer

Cancer of the trachea is rare and only makes up about 0.1% (1 in 1,000) of all cancers. The most common types of tracheal cancer are squamous cell carcinoma and adenoid cystic carcinoma. Squamous cell cancers start in the cells that line different parts of the body, such as the airways, the mouth and the gullet. Adenoid cystic cancers are rarer and develop from glandular tissue. They can develop in different parts of the body but more commonly in the head and neck area.

Tracheobronchomalacia

Tracheobronchomalacia: A rare condition where delayed development of the cartilage that makes up the trachea results in excessive collapsibility of the trachea resulting in breathing difficulty

Tracheobronchomegaly

Tracheobronchomegaly: Another name for Mounier-Kuhn syndrome (or close medical condition association). marked dilatation of the trachea and the mainstem bronchi that is frequently associated with respiratory infections. The aetiology of this syndrome remains unknown. Pathologically, atrophy and absence of elastic tissue, collagen and muscular elements result in dilatation of the cartilaginous skeleton and external protrusion of the intercartilaginous parts of the tracheal wall which induce diverticula.

Tracheobronchopathia osteoplastica

Tracheobronchopathia osteoplastica: A rare condition where bone or cartilage nodules develop in the walls of the trachea and main bronchi. The condition may stabilize or progress slowly but rarely does it affect airflow to a significant degree

Tracheoesophageal fistula

Tracheoesophageal fistula (TEF) is commonly a birth defect, with the trachea connected to the esophagus. In most cases, the esophagus is discontinuous, causing immediate feeding difficulties. TEFs may develop in adult life, secondary to the invasion of cancer in the area. In addition, TEFs may be deliberately constructed with surgery to aid talking in a patient who has the larynx removed (a laryngectomy).

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.