Diseases

Retinoblastoma

Retinoblastoma (Rb) is a rapidly develping cancer which develops in the cells of the retina, the light sensitive cells fo the eye. In the developed wrld, Rb has one of the best cure rates of all childhood cancers (95-98%), with mroe than nine out of every ten sufferers surviving int adulthood. Retinoblastma is a very treatable cancer. There are two froms of the disease; a genetic heritable from and a non-genetic non-inheritable form. Approximately 55% of children with Rb have the non-genetic form. If there is n history of the disease within the family, the disease is labelled "spradic", but this des not necessarily indicate that it is the non-genetic form. In about two thirds of cases, [1] only one eye is affected (unilateral retinblastma); in the ther third, tumours develop in both eyes (bilateral retinoblastma). The number and size of tumours on each eye may vary. The position, size and quantity of tumours are cnsidered when chosing the type of treatment for the disease.

Retinopathy of prematurity

Retinopathy of prematurity (ROP), previously known as retrolental fibroplasia (RLF), is a disease of the eye that affects prematurely born babies. It is thought to be caused by disorganized growth of retinal blood vessels which may result in scarring and retinal detachment. ROP can be mild and may resolve spontaneously, but may lead to blindness in serious cases. As such, all preterm babies are at risk for ROP, and very low birth weight is an additional risk factor. Both oxygen toxicity and relative hypoxia can contribute to the development of ROP.

Retinoschisis of Fovea

A rare genetic disorder where the retina splits resulting in slow, progressive loss of vision corresponding to the damaged area

Retinpathy anemia CNS anmalies

phanet, a cnsrtium f Eurpean partners, currently defines a cnditin rare when if affects 1 persn per 2,000. They list Retinpathy anemia cns anmalies as a "rare disease".

Retroperitoneal fibrosis

Retroperitoneal fibrosis is a disorder in which the tubes that carry urine from the kidneys to the bladder are blocked by a fibrous mass in the back of the abdomen.

Retroperitoneal liposarcoma

A rare, slow growing tumor that develops in the retroperitoneal cavity of the abdomen and tends to displace organs rather than destroy them. The tumor generally contains fat and soft tissue.

Rett like syndrome

CDKL5 and another gene, FOXG1, both lead to developmental disorders that resemble Rett syndrome. Clinicians generally consider mutations in CDKL5 to lead to ‘atypical Rett syndrome.’ However, the new study suggests that it is a distinct disorder with its own characteristic features.

Rett syndrome

Rett syndrome is a brain disorder that occurs almost exclusively in girls and it is a rare genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive inability to use muscles for eye and body movements and speech. . The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, seizures, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances.

Researchers have described several variant or atypical forms of Rett syndrome, which can be milder or more severe than the classic form. Although there's no cure for Rett syndrome, potential treatments are being studied. Current treatment focuses on improving movement and communication and providing care and support for children and adults with Rett syndrome and their families.

Revesz syndrome

Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure. Other symptoms include severe aplastic anemia, intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications. Its effects are similar to that of Hoyeraal-Hreidarsson Syndrome [1], which is related to Dyskeratosis congenita.

Reye syndrome

Reye's syndrome is a potentially fatal disease that causes numerous detrimental effects to many organs, especially the brain and liver. It is associated with aspirin consumption by children with viral diseases such as chickenpox. The disease causes fatty liver with minimal inflammation, and severe encephalopathy (with swelling of the brain). The liver may become slightly enlarged and firm, and there is a change in the appearance of the kidneys. Jaundice is not usually present. Early diagnosis is vital, otherwise death or severe brain damage may follow.

Reynolds Neri Hermann syndrome

A very rare syndrome characterized mainly by heart defects, large head, developmental problems and facial and skin anomalies.

Reynolds syndrome

Reynolds syndrome is a rare autoimmune disease, consisting of the combination of primary biliary cirrhosis and progressive systemic sclerosis. In some patients this syndrome has also been associated with Sjögren's syndrome and hemolytic anemia. Typical clinical features include jaundice, elevated blood levels of alkaline phosphatase, calcinosis cutis, telangiectasias, and pruritus. Raynaud's phenomenon may be an early clinical feature. The syndrome, a special case of scleroderma, is named after the American physician, Telfer B. Reynolds, MD (1921-2004), who first described it. He is also known for creating one of the world's first hepatology programs at the University of Southern California.

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Rhabditida Infections

Infection with a parasitic worm from the order rhabditida. The symptoms are determined by the species involved.

Rhabdoid tumor

A rhabdoid tumor is a rare and highly malignant tumor of childhood, first described in 1978. These tumors were initially considered an aggressive variant of Wilms' tumor of the kidney, however, with newer diagnostic techniques, these tumors are believed to represent a distinct entity. Since that time, there have been fewer than 50 cases reported, although it is likely that some cases previously identified as medulloblastoma or as primitive neuroectodermal tumors (PNET) are in fact rhabdoid tumors. These tumors occur in young children, mean age at diagnosis of 3.5 years, with a range of 2 to 13 years. There are no reported cases in adults. Rhabdoid tumors occur equally in males and females. The location can be supratentorial, intraventicular, and infratentorial.

Rhabdomyosarcoma

Rhabdomyosarcoma (RMS), is a type of cancer, specifically a sarcoma (cancer of connective tissues), in which the cancer cells are thought to arise from skeletal muscle progenitors. It can also be found attached to muscle tissue, wrapped around intestines, or in any anatomic location. It mostly occurs in areas naturally lacking in skeletal muscle, such as the head, neck, and genitourinary tract.

Rhabdomyosarcoma- embryonal

A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor.

Rheumatic Fever

Rheumatic fever (also known as acute rheumatic fever, ARF), is an inflammatory disease that can involve the heart, joints, skin, and brain. The disease typically develops two to four weeks after a throat infection. Signs and symptoms include fever, multiple painful joints, involuntary muscle movements, and a characteristic but uncommon non itchy rash known as erythema marginatum. The heart is involved in about half of cases. Permanent damage to the heart valves, known as rheumatic heart disease (RHD), usually only occurs after multiple attacks but may occasionally occur after a single case of ARF. The damaged valves may result in heart failure. The abnormal valves also increase the risk of the person developing atrial fibrillation and infection of the valves.

Acute rheumatic fever may occur following an infection of the throat by the bacteria Streptococcus pyogenes. If it is untreated ARF occurs in up to three percent of people. The underlying mechanism is believed to involve the production of antibodies against a person's own tissues. Some people due to their genetics are more likely to get the disease when exposed to the bacteria than others. Other risk factors include malnutrition and poverty. Diagnosis of ARF is often based on the presence of signs and symptoms in combination with evidence of a recent streptococcal infection.

Treating people who have strep throat with antibiotics, such as penicillin, decreases their risk of getting ARF. This often involves testing people with sore throats for the infection, which may not be available in the developing world. Other preventative measures include improved sanitation. In those with ARF and RHD prolonged periods of antibiotics are sometimes recommended. Gradual return to normal activities may occur following an attack. Once RHD develops, treatment is more difficult. Occasionally valve replacement surgery or repair is required. Otherwise complications are treated as per normal.

Acute rheumatic fever occurs in about 325,000 children each year and about 18 million people currently have rheumatic heart disease. Those who get ARF are most often between the ages of 5 and 14, with 20% of first-time attacks occurring in adults. The disease is most common in the developing world and among indigenous peoples in the developed world. In 2013 it resulted in 275,000 deaths down from 374,000 deaths in 1990. Most deaths occur in the developing world where as many as 12.5% of people affected may die each year. Descriptions of the condition are believed to date back to at least the 5th century BCE in the writings of Hippocrates. The disease is so named because its symptoms are similar to those of some rheumatic disorders

Rheumatoid nodulosis

A variant form of rheumatoid disease involving the development of nodules under the skin. Normally there is little or no joint pain involved. The nodules tend to form around joints such as the elbows.

Rheumatoid vasculitis

Vasculitis is a condition in which blood vessels become inflamed. When blood vessels become inflamed, they may become weakened, become thickened and increase in size, or become narrowed, sometimes to the point of stopping blood flow. The blood vessels most often involved are arteries which bring blood to the skin, nerves and internal organs. Small veins can also be involved. If inflammation is severe, tissues that are nourished by the blood vessel can be damaged when blood flow decreases. Because large blood vessels nourish larger quantities of tissue, the larger the involved vessel, the more likely serious tissue damage may occur. For this reason, the size of the blood vessel involved influences the amount of damage from rheumatoid vasculitis.

Rhizomelic chondrodysplasia punctata- type 2

A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (glyceronephosphate O-Acyl transferase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 1q42.