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Silver–Russell Syndrome
Silver–Russell syndrome (SRS), also called Silver–Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell–Silver syndrome (RSS), and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism. Silver–Russell syndrome occurs in approximately one out of every 50,000 to 100,000 births. Males and females seem to be affected with equal frequency. Signs and symptoms Although confirmation of a specific genetic marker is in a significant number of individuals, there are no tests to clearly determine if this is what a person has. As a syndrome, a diagnosis is typically given for children upon confirmation of the presence of several symptoms listed below. Symptoms are intrauterine growth restriction (IUGR) combined with some of the following: * Often small for gestational age (SGA) at birth (birth weight less than 2.8 kg) * Feeding problems: the baby is unintere ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prader–Willi Syndrome
Prader–Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. Mild to moderate intellectual impairment and behavioral problems are also typical of the disorder. Often, affected individuals have a narrow forehead, small hands and feet, short height, and light skin and hair. Most are unable to have children. About 74% of cases occur when part of the father's chromosome 15 is deleted. In another 25% of cases, the affected person has two copies of the maternal chromosome 15 from the mother and lacks the paternal copy. As parts of the chromosome from the mother are turned off through imprinting, they end up with no working copies of certain genes. PWS is not generally inherited, but rather the genetic changes happen during the format ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes With Dysmelia
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Disorders
Growth hormone therapy refers to the use of growth hormone (GH) as a prescription medication—it is one form of hormone therapy. Growth hormone is a peptide hormone secreted by the pituitary gland that stimulates growth and cell reproduction. In the past, growth hormone was extracted from human pituitary glands. Growth hormone is now produced by recombinant DNA technology and is prescribed for a variety of reasons. GH therapy has been a focus of social and ethical controversies for 50 years. This article describes the history of GH treatment and the current uses and risks arising from GH use. Other articles describe GH physiology, diseases of GH excess ( acromegaly and pituitary gigantism), deficiency, the recent phenomenon of HGH controversies, growth hormone in sports, and growth hormone for cows. Medical uses HGH deficiency in children Growth hormone deficiency is treated by replacing growth hormone. Lonapegsomatropin was approved for medical use in the United States in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genodermatoses
Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. There are many different types of genodermatosis, the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people.Fields, D. (2019, June). Types of Genodermatoses. Retrieved September 08, 2020, from https://www.news-medical.net/health/Types-of-Genodermatoses.aspx Genodermatosis has influence on the texture, color and structure of skin cuticle and connective tissue, specific lesion site and clinical manifestations on the body vary depending on the type. In the spite of the variety and complexity of genodermatosis, there are still some common methods that can help people diagnose. After diagnosis, different types of genodermatosis require different levels of therapy including interventions, nursing interventions and treatments.Fondation René Touraine. (n.d.). Genodermatoses & Rare Skin Disorders - a publ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ILDS
The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization. It was founded in 1935, but because of World War II no congresses were held until 1952. It is governed by the International Committee of Dermatology. The ILDS is the parent organization of the International Foundation for Dermatology, founded in 1987. After the publication of ICD-10, the ILDS produced a series of compatible extensions for use in dermatology Dermatology is the branch of medicine dealing with the skin.''Random House Webster's Unabridged Dictionary.'' Random House, Inc. 2001. Page 537. . It is a speciality with both medical and surgical aspects. A dermatologist is a specialist medical .... References External links Official site HistoryInternational Foundation for DermatologyApplication to Dermatology of International Classification of Disease (ICD-11) Organizations established in 1935 Dermatology organi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alexander Russell (physician)
Alexander Russell may refer to: *Alexander Russell (naturalist) (1715–1768), British physician and naturalist * Alexander Russell (priest) (1803–1886), Dean of Adelaide *Lord Alexander Russell (1821–1907), British Army general * Alexander Russell (electrical engineer) (1861–1943), Scottish electrical engineer and educator * Alexander Russell (composer) (1880–1953), American composer, pianist, organist, impresario and the first Frick Professor of Music for Princeton University * Alexander Russell (politician) (1879–1961), British Member of Parliament for Tynemouth, 1922–1945 *Sir Fraser Russell Sir Alexander Fraser Russell, (21 October 1876 – 28 March 1952), publicly known as Sir Fraser Russell, was three times acting Governor of Southern Rhodesia as well as its long-serving Chief Justice. Born at St Andrew's Church, Somerset Road ... (Alexander Fraser Russell, 1876–1952), acting Governor of Southern Rhodesia * Alexander Russell (cricketer) (born 1998), Englis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Henry Silver
Henry K. Silver (1918–1991) was an American pediatrician who influenced the early development of the physician assistant and nurse practitioner roles in the United States. Silver co-created the nation's first pediatric nurse practitioner education program in the 1960s along with Nurse Educator Loretta Ford, and he helped establish a pediatric physician assistant program a few years later. In his later career, Silver studied and published on the abuse of medical students by physicians. Biography Henry Silver was born in Philadelphia in 1918. He attended medical school at the University of California at Berkeley. Silver served on the faculty at the University of California Medical School and Yale University School of Medicine early in his career. In 1957, Silver joined the University of Colorado School of Medicine. From 1978 to his death, Silver served as the medical school's associate dean of admissions. While at Colorado, he created a pediatric nurse practitioner A pediat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoglycemia
Hypoglycemia, also called low blood sugar, is a fall in blood sugar to levels below normal, typically below 70 mg/dL (3.9 mmol/L). Whipple's triad is used to properly identify hypoglycemic episodes. It is defined as blood glucose below 70 mg/dL (3.9 mmol/L), symptoms associated with hypoglycemia, and resolution of symptoms when blood sugar returns to normal. Hypoglycemia may result in headache, tiredness, clumsiness, trouble talking, confusion, fast heart rate, sweating, shakiness, nervousness, hunger, loss of consciousness, seizures, or death. Symptoms typically come on quickly. The most common cause of hypoglycemia is medications used to treat diabetes such as insulin, sulfonylureas, and biguanides. Risk is greater in diabetics who have eaten less than usual, recently exercised, or consumed alcohol. Other causes of hypoglycemia include severe illness, sepsis, kidney failure, liver disease, hormone deficiency, tumors such as insulinomas or non-B cell tumo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scoliosis
Scoliosis is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age. The cause of most cases is unknown, but it is believed to involve a combination of genetic and environmental factors. Risk factors include other affected family members. It can also occur due to another condition such as muscle spasms, cerebral palsy, Marfan syndrome, and tumors such as neurofibromatosis. Diagnosis is confirmed with X-rays. Scoliosis is typically classified as either structural in which the curve is fixed, or functional in which the underlying spine is normal. Treatment depends on the degree of curve, location, and cause. Minor curves may simply be watched periodically. Treatme ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Percutaneous Endoscopic Gastrostomy
Percutaneous endoscopic gastrostomy (PEG) is an endoscopic medical procedure in which a tube (PEG tube) is passed into a patient's stomach through the abdominal wall, most commonly to provide a means of feeding when oral intake is not adequate (for example, because of dysphagia or sedation). This provides enteral nutrition (making use of the natural digestion process of the gastrointestinal tract) despite bypassing the mouth; enteral nutrition is generally preferable to parenteral nutrition (which is only used when the GI tract must be avoided). The PEG procedure is an alternative to open surgical gastrostomy insertion, and does not require a general anesthetic; mild sedation is typically used. PEG tubes may also be extended into the small intestine by passing a jejunal extension tube (PEG-J tube) through the PEG tube and into the jejunum via the pylorus. PEG administration of enteral feeds is the most commonly used method of nutritional support for patients in the community. Man ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
In Vitro Fertilization
In vitro fertilisation (IVF) is a process of fertilisation where an egg is combined with sperm in vitro ("in glass"). The process involves monitoring and stimulating an individual's ovulatory process, removing an ovum or ova (egg or eggs) from their ovaries and letting sperm fertilise them in a culture medium in a laboratory. After the fertilised egg (zygote) undergoes embryo culture for 2–6 days, it is transferred by catheter into the uterus, with the intention of establishing a successful pregnancy. IVF is a type of assisted reproductive technology used for infertility treatment, gestational surrogacy, and, in combination with pre-implantation genetic testing, avoiding transmission of genetic conditions. A fertilised egg from a donor may implant into a surrogate's uterus, and the resulting child is genetically unrelated to the surrogate. Some countries have banned or otherwise regulate the availability of IVF treatment, giving rise to fertility tourism. Restrictions ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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