Esophageal squamous cell carcinoma (ESCC) is among the most deadly forms of human malignancy characterized by late stage diagnosis, metastasis, therapy resistance and frequent recurrence. Clinical management of ESCC remains challenging and the disease presently lacks approved targeted therapeutics.
In medicine (gastroenterology), esophageal varices are extremely dilated sub-mucosal veins in the esophagus. They are most often a consequence of portal hypertension, such as may be seen with cirrhosis; patients with esophageal varices have a strong tendency to develop bleeding.
Esotropia is a form of strabismus, or "squint," in which one or both eyes turns inward. The condition can be constantly present, or occur intermittently, and can give the affected individual a "cross-eyed" appearance. Esotropia is sometimes erroneously called "lazy eye," which describes the condition of amblyopia—a reduction in vision of one or both eyes that is not the result of any pathology of the eye and cannot be resolved by the use of corrective lenses. Amblyopia can, however, arise as a result of esotropia occurring in childhood: In order to relieve symptoms of diplopia or double vision, the child's brain will ignore or "suppress" the image from the esotropic eye, which when allowed to continue untreated will lead to the development of amblyopia. Treatment options for esotropia include glasses to correct refractive errors (see accommodative esotropia below), the use of prisms and/or orthoptic exercises and/or eye muscle surgery.
Essential hypertension is blood pressure that is consistently higher than normal when no cause for the high blood pressure can be found. Most experts believe that essential hypertension is caused by several undiscovered factors, which may be why certain treatments lower blood pressure in some people but not others
Essential iris atrophy: A very rare progressive eye disorder involving pupil abnormalities and degeneration of the iris. It is a slowly developing disorder that usually only affects one eye.
Thrombocytopenia (or -paenia, or thrombopenia in short) is the presence of relatively few platelets in blood. Generally speaking, in humans, a normal platelet count ranges from 150,000 and 450,000 per mm3.These limits, however, are determined by the 2.5th lower and upper percentile, and a deviation does not necessarily imply any form of disease. The number of platelets in a blood sample also decreases rather quickly with time and a low platelet count may be caused by a delay between sampling and analysis.
Essential thrombocytosis (ET, also known as essential thrombocythemia) is a rare chronic blood disorder characterized by the overproduction of platelets by megakaryocytes in the bone marrow in the absence of an alternative cause. In some cases this disorder may be progressive, and rarely may evolve into acute myeloid leukemia or myelofibrosis. It is one of four myeloproliferative disorders.
ET is one of the most common movement disorders. ET is a neurological disorder that causes the hands, head, voice, legs, or trunk to shake rhythmically. Up to 10 million people in the United States and many millions of more people worldwide have ET. While tremor is more commonly seen in older people, ET can affect anyone at any time between early childhood and old age. Researchers estimate that 4 to 5.6% of people aged 40 to 60 have ET. The prevalence rate for people aged 60 and older is estimated at 6.3 to 9%.
It occurs between the ages of 5 and 30 with a peak of incidence between ages 12 and 18. The most frequent symptom is pain. Other symptoms depend on the organs closest to the tumor: motor, sphincteric disorders caused by nervous compression or mechanical disorders are associated with pelvic tumors; respiratory disorders or pleural effusion are associated with costal tumors; medullar or radicular compression are associated with vertebral tumors. The tumor initially develops most frequently in bone, particularly in the pelvis (30%), thorax (rib, clavicle, scapula) (20%), femur (16%), tibia (9%), vertebrae (8%) and humerus (5%). The disease has a high potential for metastases (lung, bone, bone marrow). Neuroepithelioma is a highly differentiated neural variant (see this term). Askin’s tumor is a thoracic variant which can be slightly or well differentiated.
Exostoses - anetodermia - brachydactyly type E: A rare syndrome characterized mainly by bone growths, a skin disorder and short foot bones.
Hereditary multiple exostoses (HME) is characterized by growths of multiple exostoses, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Exostoses can be associated with a reduction in skeletal growth, bony deformity, restricted motion of joints, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by twelve years of age. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%).
Exostoses, multiple, type 1: Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type I differs from type II and III in the location of the genetic defect that causes the disorder. Type I tends to involve more bone growths and shorter arm and leg bones.
Exostoses, multiple, type 2: Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type II differs from type I and III in the location of the genetic defect that causes the disorder. Type I tends to be less severe than type I.
Exostoses, multiple, type 3: Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type II differs from type I and III in the location of the genetic defect that causes the disorder. Type I tends to be less severe than type I.
Bladder exstrophy, more properly, the exstrophy-epispadias complex is a rare congenital anomality occurring once every 40,000-50,000 live births with a 2:1 male:female ratio. The diagnosis involves a spectrum of anomalies of the lower abdominal wall, bladder, anterior bony pelvis, and external genitalia. It occurs due to failure of the abdominal wall to close during fetal development and results in protrusion of the posterior bladder wall through the lower abdominal wall.
Exstrophy of the bladder is a complex combination of disorders that occurs during fetal development. The disorder usually involves many systems in the body, including the urinary tract, skeletal muscles and bones, and the digestive system. Bladder exstrophy means that the bladder is essentially inside out and exposed on the outside of the abdomen. Because the bladder and other structures are exposed to the outside of the body, urine constantly trickles onto the skin causing local irritation.
A rare progressive eye disorder which is inherited in a recessive X-linked manner. The development of the retinal blood vessels is incomplete resulting in parts of the retina having no blood vessels which is necessary for it's function. The disorder is caused by a genetic defect on chromosome 11q14-q21 and the severity of the condition.
Familial exsudative vitreo-retinopathy (FEVR) or autosomal dominat exsudative vitreo-retinal degeneration (Criswick-Schepens, 1969) is an often overlooked disease, that commonly effects children but more seldom effects also
Germ cells are primitive cells within the body that normally mature into ova (egg) or sperm cells. More than 90% of all germ cell tumors are gonadal; that is, they develop in the ovaries or the testes (the gonads). The remaining 5–10% of germ cell tumors arise outside of the gonads: these are the extragonadal germ cell tumors. These tumors occur mostly in the chest, lower back, and head.
Extrasystoles - short stature - hyperpigmentation - microcephaly: A rare syndrome characterized mainly by shortness, increased skin pigmentation, small head and.
Abnormal vascularization of the peripheral retina and retinal detachment are the common clinical characteristics of Norrie disease pseudoglioma (NDP), Familial exudative vitreoretinopathy (FEVR), and Retinopathy of prematurity (ROP). NDP is a severe, X-linked recessive neurodevelopmental disorder affecting mostly males. But it can also affect female carriers. It is also often associated with some form of mental retardation and progressive sensorineural deafness in the second decade of life. Additionally, it exhibits intrafamilial variability in the onset and severity and more complex phenotypes in some patients. FEVR is a rare bilateral eye disorder affecting full-term infants with a high penetrance and highly variable expressivity even within the same family.
Eye defects - arachnodactyly - cardiopathy: A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease.
Eyebrows duplication of, with stretchable skin and syndactyly: A rare syndrome characterized mainly by duplication of some of the eyebrow, increased skin elasticity and webbed fingers and toes.
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3.
Fabry disease affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.
A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.
A rare condition characterized mainly by seizures that originate from the temporal lobe of the brain .
A rare syndrome characterized by a variety of abnormalities such as kidney anomaly, mental retardation, unusual facial features, heart problems and joint problems. Infant death or stillbirth may occur in some cases.
A very rare syndrome characterized by facial, eye, ear and kidney abnormalities.
An inherited muscle disease involving slowly progressive muscle weakness. The condition is characterized by the early involvement of facial and shoulder muscles. Muscle weakness then spreads to the pelvis and legs. The onset, severity and rate of progression is variable.