Diseases

Tenosynovial Giant Cell Tumors (TGCTs)

Tenosynovial giant cell tumors (TGCTs) are a group of rare, typically non-life-threatening tumors that involve the synovium, bursae and tendon sheath. Synovium is the thin layer of tissue or membrane that covers the inner surface of the joint spaces and the bursae and tendon sheaths. The bursae are small fluid-filled sacs that cushion bones, tendons and muscles around the joints. A tendon sheath is a layer membrane that covers a tendon. Tendons are fibrous tissue that connects muscle to bone.

These tumors cause the affected synovium, bursae or tendon sheaths to thicken and overgrow. They are benign, which means they are not cancerous and do not spread to other areas of the body (metastasize). However, they can grow and cause damage to the surrounding tissue and structures of the affected limb. Symptoms can include pain, swelling, tenderness, warmth at the location and limitation of movement of the joint. Large or small joints can be affected depending upon the tumor subtype. In localized TGCT, smaller joints tend to be affected, such as digits and parts of the foot. In diffuse TGCT, large joints tend to be involved, most commonly the knee. Surgery is often the initial treatment option. However, depending on the subtype, the tumor can recur, particularly in diffuse TGCT which was previously known as pigmented villonodular synovitis (PVNS). If untreated or if the tumor continually recurs, they can result in damage and degeneration of the affected joint and surrounding tissues or structures. Sometimes, they can cause significant disability. In rare cases, amputation is warranted.

Testicular cancer

Testicular cancer is a disease in which cells become malignant (cancerous) in one or both testicles.

source: Cancer

Testicular Germ Cell Tumors

Testicular Germ Cell Tumors (TGCTs) are the most common testicular cancers, arising from sperm precursor cells (germ cells), prevalent in young men (15-35) and highly treatable. They primarily fall into Seminomas and Nonseminomas, with mixed tumors treated as nonseminomas. Risk factors include undescended testicles, family history, and certain genetic predispositions, while they are characterized by sensitivity to chemotherapy, often leading to excellent outcomes, though long-term effects and fertility preservation are key concerns. 

Testotoxicosis

Puberty is the process of physical maturation manifested by an increase in growth rate and the appearance of secondary sexual characteristics. Precocious puberty is typically defined as the appearance of any sign of secondary sexual maturation in boys younger than 9 years, in white girls younger than 7 years, and in black girls younger than 6 years. 

source: eMedicine

Testotoxicosis is also named : Precocious puberty, male limited; Sexual precocity, familial, gonadotropin-independent; Pubertas Praecox; Familial Testotoxicosis (subtype).

Tetanus

Tetanus is an infection characterized by muscle spasms. In the most common type the spasms begin in the jaw and then progress to the rest of the body. These spasms usually last a few minutes each time and occur frequently for three to four weeks. Spasms may be so severe that bone fractures may occur. Other symptoms may include: fever, sweating, headache, trouble swallowing, high blood pressure, and a fast heart rate. Onset of symptoms is typically three to twenty one days following infection. It may take months to recover. About 10% of those infected die.

Tetra-amelia Syndrome

Tetra-Amelia Syndrome is a very rare disorder characterized by the absence of all four limbs.

Tetraamelia multiple malformations

Tetraamelia - multiple malformations: A very rare syndrome characterized mainly by a lack of arm and leg bones (hands and feet are still present) as well as other malformations.

Tetrahydrobiopterin deficiencies

Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some artificial sweeteners. If tetrahydrobiopterin deficiency is not treated, excess phenylalanine can build up to harmful levels in the body, causing mental retardation and other serious health problems. High levels of phenylalanine are present from infancy in people with untreated tetrahydrobiopterin deficiency. The resulting signs and symptoms range from mild to severe. Mild complications may include temporary low muscle tone. Severe complications include mental retardation, movement disorders, difficulty swallowing, seizures, behavioral problems, progressive problems with development, and an inability to control body temperature.

Tetraploidy

Tetraploidy: A very rare chromosomal disorder which results in various abnormalities. Infants are usually stillborn or die within months of birth.

Tetrasomy X

A rare chromosomal disorder which causes mental retardation, small head and various other anomalies.

Thakker Donnai syndrome

Thakker-Donnai syndrome: A very rare, severe genetic syndrome characterized by abnormal internal organs and facial anomalies.

Thalamic syndrome

Thalamic syndrome (or thalamic pain syndrome) is a condition that can be associated with inadequate blood supply from the posterior cerebral artery.Thalamic Syndrome (Dejerine-Roussy) is a rare neurological disorder in which the body becomes hypersensitive to pain as a result of damage to the thalamus, a part of the brain that affects sensation. The thalamus has been described as the brain’s sensory relay station. Primary symptoms are pain and loss of sensation, usually in the face, arms, and/or legs. Pain or discomfort may be felt after being mildly touched or even in the absence of a stimulus. The pain associated with thalamic syndrome may be made worse by exposure to heat or cold and by emotional distress. Sometimes, this may include even such emotions as those brought on by listening to music.

Thanatophoric dysplasia- type 1

Thanatophoric dysplasia, type 1: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.

Thanatophoric dysplasia- type 2

Thanatophoric dysplasia, type 2: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge

Thiamine responsive megaloblastic anemia syndrome

A rare genetic disorder characterized by megaloblastic anemia, hearing loss and diabetes. The condition is caused by a deficiency of a thiamine (vitamin B1) transporter protein which means that the body is unable to effectively utilize thiamine from the diet.

Thies Reis syndrome

A rare condition characterized by hearing loss caused by fixation of stapes (ear bone which causes conductive deafness if it becomes fixed and immovable). It can occur as a result of various bone diseases or even chronic ear infections

Thiolase deficiency

A rare syndrome involving a deficiency of an enzyme called thiolase which results in mental retardation and muscle problems.

Thiopurine S methyltranferase deficiency

Thiopurine methyltransferase or thiopurine S-methyltransferase (TPMT) is an enzyme (EC 2.1.1.67) that methylates thiopurine compounds. The methyl donor is S-adenosyl-L-methionine, which is converted to S-adenosyl-L-homocysteine. This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals. A pseudogene for this locus is located on chromosome 18q

Thomas syndrome

Another name for Dejerine-Sottas disease (or close medical condition association). An inherited, progressive, hypertrophic nervous system disorder which affects limb function