Rubella during the first trimester in an unvaccinated pregnant mother-to-be can contribute a host of congenital disorders, like deafness and blindness.
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The herd has grown to 52, a haven for animals that have lost feet because of frostbite, are missing limbs, were abused or have congenital disorders.
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The baby was one month premature, and had congenital disorders of the lungs and kidneys that made his survival impossible, according to an autopsy conducted the day after his death at St. Barnabas Hospital in the Bronx.
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As noted by the Kaiser Family Foundation, coverage was denied by health insurance companies for a range of congenital disorders under the guise of those being pre-existing conditions, despite the fact that the baby literally didn't exist before being born with the ailment.
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Her current (2017) research focuses on prenatal diagnosis, genetics and congenital disorders.
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Hypochromic anemia is also caused by thalassemia and congenital disorders like Benjamin anemia.
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Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital disorders.
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Mutations in DOLK cause a subtype of the congenital disorders of glycosylation, DOLK-CDG (CDG-Im).
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Telecanthus is often associated with many congenital disorders. Congenital disorders such as Down syndrome, fetal alcohol syndrome, cri du chat syndrome, Klinefelter syndrome, Turner syndrome, Ehlers–Danlos syndrome, Waardenburg syndrome often present with prominent epicanthal folds, and if these folds are nasal (most commonly are) they will cause telecanthus.
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However, a few human congenital disorders result in persons being born with a cloaca, including persistent cloaca and sirenomelia (mermaid syndrome).
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Various scenarios are mentioned in individual patient cases such as congenital disorders: arthrogryposis, agenesis of the corpus callosum, Walker–Warburg syndrome, and Mowat–Wilson syndrome.
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Member, Women Legislators of Maryland, 2003- (endorsement committee, 2006). Member, State Advisory Council on Hereditary and Congenital Disorders, 2004–09; Maryland Medicaid Advisory Committee, 2009–11.
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This condition affects 1 in 4000 people, and is associated with 50 different human congenital disorders. Richards also acts as scientific advisor for the Australian disorders of the Corpus Collosum.
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Like other warmblood registries, the AWÖ does not give breeding licenses to stallions with congenital disorders including cryptorchidism, malocclusion, osteochondritis, or impaired breathing. As a result, Austrian Warmbloods are healthy and robust.
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Diprosopus often occurs in combination with other congenital disorders, particularly anencephaly, neural tube defect and cardiac malformations. When present, the brain may show abnormalities ranging from partial to complete duplication of brain structures, and/or underdevelopment of brain tissues.
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Orthopedic surgery or orthopedics, also spelled orthopaedics, is the branch of surgery concerned with conditions involving the musculoskeletal system. Orthopedic surgeons use both surgical and nonsurgical means to treat musculoskeletal trauma, spine diseases, sports injuries, degenerative diseases, infections, tumors, and congenital disorders.
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All uranium compounds are radioactive and toxic. Uranium compounds cause blood disorders, chronic kidney disease, acute tubular necrosis, chronic fatigue and congenital disorders. The target organs are kidneys, liver, lungs and brain. Uranyl salts are neurotoxins and accumulates in bones, liver, kidneys, and reproductive tissues.
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The incidence of HCC is increasing due to increased rates of chronic infection with Hepatitis B and Hepatitis C in Asia. Other risk factors include iron overload, alcoholic cirrhosis and some congenital disorders. Five year survival rates for liver cancer patients are low relative to other cancers.
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The term albinism [L. albus means ‘white’] refers to a heterogeneous group of congenital disorders in melanin pigment biogenesis. Pigmentation process maybe affected in one or many ways due to mutations. Abnormal pigmentation maybe at the level of embryogenesis in regions where melanocytes fail to populate.
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Congenital disorders include cystic fibrosis, pulmonary hypoplasia (an incomplete development of the lungs)congenital diaphragmatic hernia, and infant respiratory distress syndrome caused by a deficiency in lung surfactant. An azygos lobe is a congenital anatomical variation which though usually without effect can cause problems in thoracoscopic procedures.
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This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid- linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic.
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Uranyl salts are toxic and can cause severe chronic kidney disease and acute tubular necrosis. Target organs include the kidneys, liver, lungs and brain. Uranyl ion accumulation in tissues including gonocytes produces congenital disorders, and in white blood cells causes immune system damage. Uranyl compounds are also neurotoxins.
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Few congenital disorders of the fibrinolytic system have been documented. Nevertheless, excess levels of PAI and alpha 2-antiplasmin have been implicated in the metabolic syndrome and various other disease states. However, acquired disturbance of fibrinolysis (Hyperfibrinolysis), is not uncommon. Many trauma patients suffer from an overwhelming activation of tissue factor and thus massive hyperfibrinolysis.
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Mannose, packaged as the nutritional supplement "d-mannose", is a sugar monomer of the aldohexose series of carbohydrates. It is a C-2 epimer of glucose. Mannose is important in human metabolism, especially in the glycosylation of certain proteins. Several congenital disorders of glycosylation are associated with mutations in enzymes involved in mannose metabolism.
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Mutations in Pax3 can cause a variety of complications including Waardenburg syndrome I and III as well as craniofacial-deafness-hand syndrome. Waardenburg syndrome is most often associated with congenital disorders involving the intestinal tract and spine, an elevation of the scapula, among other symptoms. Each stage has various associated genetic factors without which will result in muscular defects.
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MedlinePlus Medical Encyclopedia (2007-10-19). Retrieved 2018-08-26. Congenital disorders are acquired before birth. Infants with certain congenital heart defects can survive only as long as the ductus remains open: in such cases the closure of the ductus can be delayed by the administration of prostaglandins to permit sufficient time for the surgical correction of the anomalies.
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During her 50 years of practice she collected multiple observations of pediatric disorders. De Lange also became interested in congenital disorders and their pediatric relevance as theories on human genetics developed during the 1920s and 1930s. In 1933, De Lange described what she called "typus degenerativus Amstelodamensis" (Amsterdam degeneration type) in two children, which became known as Cornelia de Lange syndrome.
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They are classified as "type I" and are more severe in their propensity to cause thrombosis. The main ones are antithrombin III deficiency, protein C deficiency and protein S deficiency. Milder rare congenital thrombophilias are factor XIII mutation and familial dysfibrinogenemia (an abnormal fibrinogen). It is unclear whether congenital disorders of fibrinolysis (the system that destroys clots) are major contributors to thrombosis risk.
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Asplenia with cardiovascular anomalies, also known as Ivemark syndrome and right atrial isomerism, is an example of a heterotaxy syndrome. These uncommon congenital disorders are characterized by defects in the heart, spleen and paired organs such as the lungs and kidneys. Another name is "asplenia- cardiovascular defect-heterotaxy". Right atrial isomerism is named for its discoverer, Swedish pathologist Biörn Ivemark.
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PROM includes people with joint disorders including arthrogryposis and thalidomide. Most of the included specific conditions are for congenital disorders. It also includes people with multiple sclerosis. People who are ineligible to compete in Les Autres classes include people with intellectual disabilities, people with heart, chest, abdominal, ear, eye or skin related disabilities where these disabilities do not impair their locomotor function.
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In reconstructive and cosmetic surgery, bone expanders have been used to elongate the mandibula in cases of congenital disorders, trauma, tumors, etc. Other newer devices such as the orthofix and intramedullary skeletal kinetic distractor (ISKD) are also used for limb lengthening. It can add over 6 inches per bone, but is expensive, painful, and time-consuming (each procedure lasts around 8–12 months).
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Bronchiectasis may result from congenital disorders that affect cilia motility or ion transport. A common genetic cause is cystic fibrosis, which affects chloride ion transport. Another genetic cause is primary ciliary dyskinesia, a rare disorder that leads to immotility of cilia and can lead to situs inversus. When situs inversus is accompanied by chronic sinusitis and bronchiectasis, this is known as Kartagener's syndrome.
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Being a highly specialized field, its importance emerges from the high incidence of congenital and acquired disorders found in children. It provides services in all diagnostic and several therapeutic areas. The department consists of two consultant pediatric cardiologists. The department is doing regular cardiac catheterization for congenital lesions and has started transcatheter treatment of suitable congenital disorders like ASD, PDA, pulmonary stenosis and mitral stenosis.
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Congenital disorders of the meatus, in the male, include epispadias (the misplacement to the upper aspect) and hypospadias (the misplacement to the underside of the penis). A congenital misshaping can result in its narrowing (meatal stenosis), causing a partial or total urinary blockage or the bifurcation of the urinary stream. A urethral blockage can also be caused by foreign material, kidney stones, or bladder stones (lithiasis).
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PMM2 deficiency or PMM2-CDG is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disorder. A defective copy of the PMM2 gene is the most common cause of a disease called “congenital disorders of glycosylation” or “PMM2-CDG”. PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders.
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There are two congenital disorders of the long bones. In a disorder known as rachitis fetalis anularis the ends of the long bones (epiphyses) are enlarged. Another disorder is known as rachitis fetalis micromelica in which there is a deficiency in the growth (as a shortness) of the bones. There is a surgical procedure called distraction osteogenesis which is used to lengthen long bones.
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The clinical approach has a greater focus on pathology and medical treatments and diagnoses. Often these studies evaluate and describe a patient’s neural damage due to injury, brain tumors, seizures, or various congenital disorders. This type of research typically examines loss of certain functions due to damage and assesses to what extent if any can patients, usually children with still developing brains, can regain these functions.
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Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which hypoglycemia is caused by excessive insulin secretion.update 2013 Congenital forms of hyperinsulinemic hypoglycemia can be transient or persistent, mild or severe. These conditions are present at birth and most become apparent in early infancy. Mild cases can be treated by frequent feedings, more severe cases can be controlled by medications that reduce insulin secretion or effects.
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If patients have other congenital anomalies, their bladder outlet obstruction may be recognized during evaluation for their related syndromes. For example, VACTERL association is a constellation of congenital anomalies including vertebral, anal, cardiac, tracheoesophageal, renal and limb defects. Prune belly syndrome (or Eagle-Barrett syndrome) is another group of congenital disorders that involves the kidneys and includes absent abdominal wall musculature, severe urinary tract abnormalities and bilateral undescended testicles.
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Rapid effects of biologically relevant stimulation on tectal neurons: Changes in dendritic spine morphology after 9 minutes are retained for 24 hours. Brain Research, vol 266, pp 217–233, 1983. Together with Jaime Villablanca at UCLA, Burgess discovered that early brain injury resembling childhood congenital disorders and adult traumatic brain injury can heal naturally and that rehabilitative exercise improves brain healing.Burgess, J. Wesley, Villablanca, J. R., and Levine, Micheal.
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NGLY1 deficiency can be suspected based on clinical findings, however confirmation of the diagnosis requires the identification of biallelic pathogenic variants in NGLY1. Traditional screening tests utilized for congenital disorders of glycosylation, including carbohydrate deficient transferrin are not diagnostic in NGLY1 deficiency. To date all variants identified as being causative of NGLY1 deficiency have been sequence variants, rather than copy number variants. This spectrum may change as additional cases are identified.
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The genetics and abortion issue is an extension of the abortion debate and the disability rights movement. Since the advent of forms of prenatal diagnosis, such as amniocentesis and ultrasound, it has become possible to detect the presence of congenital disorders in the fetus before birth. Specifically, disability-selective abortion is the abortion of fetuses that are found to have non-fatal mental or physical defects detected through prenatal testing.Lawson, K. (2006).
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Coffey's first paper, which she wrote in 1953, is about syphilis in children. Her research mainly focused on children born with congenital and metabolic diseases, and was completed with the help of the Medical Research Council, Trinity College Dublin and Professor Jessop of Meath Hospital. She then began to research sudden infant death syndrome (SIDS), and was one of the first women to study it. Her numerous publications covered most aspects of congenital disorders.
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The number of pregnancies with Down syndrome is more than two times greater with many spontaneously aborting. It is the cause of 8% of all congenital disorders. Maternal age affects the chances of having a pregnancy with Down syndrome. At age 20, the chance is 1 in 1,441; at age 30, it is 1 in 959; at age 40, it is 1 in 84; and at age 50 it is 1 in 44.
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Deep vein thrombosis is a condition in which a blood clot forms in a deep vein. This is usually the veins of the legs, although it can also occur in the veins of the arms. Immobility, active cancer, obesity, traumatic damage and congenital disorders that make clots more likely are all risk factors for deep vein thrombosis. It can cause the affected limb to swell, and cause pain and an overlying skin rash.
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The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Four alternatively spliced transcript variants encoding three distinct isoforms have been observed.
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In 1995 she set up the first registry for birth defects in the UAE. This registry was the first birth defects registry in an Arab country and the first to become a member of the International Clearing House of Birth Defects in Rome, Italy. She became an associate professor in 1997. She founded the first Clinical Genetics Service in the UAE, which offers support and counselling for families affected by congenital disorders.
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Diagram showing the definition of telecanthus, or dystopia canthorum Telecanthus, or dystopia canthorum, refers to increased distance between the inner corners of the eyelids (medial canthi), while the inter-pupillary distance is normal. This is in contrast to hypertelorism, in which the distance between the whole eyes is increased. Telecanthus and hypertelorism are each associated with multiple congenital disorders. The distance between the inner corners of the eyelids is called the intercanthal distance.
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Globally SIDS resulted in about 22,000 deaths , down from 30,000 deaths in 1990. Rates vary significantly by population from 0.05 per 1000 in Hong Kong to 6.7 per 1000 in Native Americans. SIDS was responsible for 0.54 deaths per 1,000 live births in the US in 2005. It is responsible for far fewer deaths than congenital disorders and disorders related to short gestation, though it is the leading cause of death in healthy infants after one month of age.
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Ol'ga Vassilievna Leonova, later Leonova-von Lange (fl. 1890-1910) was a Russian embryologist and physician known for her studies of congenital disorders, specifically those affecting the eyes and limbs. Along with Stanislawa Poplawska, a Polish neurobiologist, Leonova was the first woman to work in Constantin von Monakow's laboratory, which is now the Brain Research Institute of Zurich University. Leonova also researched at the Imperial University of Moscow's cutting-edge neurobiology laboratories, and in the United States.
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The content of ribophorin of the rough endoplasmic reticulum is equal to the stoichiometric number of ribosomal units. Therefore, this suggests the great importance, abundance and good preservation of these proteins in the reticulum. Consequently, defects in the genes that encode these proteins may cause congenital disorders and devastating consequences; ribophorin I and II are encoded by the genes RPN1 and RPN2 respectively. The ribophorins are soluble in non-ionic detergents such as Triton X-100.
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Ulceration erodes the gastric mucosa, which protects the tissue of the stomach from the stomach acids. Peptic ulcers are most commonly caused by a bacterial Helicobacter pylori infection. As well as peptic ulcers, vomiting blood may result from abnormal arteries or veins that have ruptured, including Dieulafoy's lesion and Gastric antral vascular ectasia. Congenital disorders of the stomach include pernicious anaemia, in which a targeted immune response against parietal cells results in an inability to absorb vitamin B12.
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The paternal age effect is the statistical relationship between the father's age at conception and biological effects on the child. Such effects can relate to birthweight, congenital disorders, life expectancy and psychological outcomes. A 2017 review found that while severe health effects are associated with higher paternal age, the total increase in problems caused by paternal age is low. While paternal age has increased since 1960–1970, this is not seen as a major public health concern.
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Philadelphia translocation t(9;22)(q34;q11.2) seen in chronic myelogenous leukemia. Following the advent of procedures which allowed easy enumeration of chromosomes, discoveries were quickly made related to aberrant chromosomes or chromosome number. In some congenital disorders, such as Down syndrome, cytogenetics revealed the nature of the chromosomal defect: a "simple" trisomy. Abnormalities arising from nondisjunction events can cause cells with aneuploidy (additions or deletions of entire chromosomes) in one of the parents or in the fetus.
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Pericentrin (kendrin), also known as PCNT and pericentrin-B (PCNTB), is a protein which in humans is encoded by the PCNT gene on chromosome 21. This protein localizes to the centrosome and recruits proteins to the pericentriolar matrix (PCM) to ensure proper centrosome and mitotic spindle formation, and thus, uninterrupted cell cycle progression. This gene is implicated in many diseases and disorders, including congenital disorders such as microcephalic osteodysplastic primordial dwarfism type II (MOPDII) and Seckel syndrome.
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Some 100 different genetic mutations occurring in more than 400 families have been found to cause it. All of these mutations as well as those causing hereditary fibrinogen Aα-Chain amyloidosis exhibit partial penetrance, i.e. only some family members with one of these mutant genes develop dysfibrinogenemia-related symptoms. While both of these congenital disorders as well as acquired dysfibrinogenemia are considered very rare, it is estimated that ~0.8% of individuals with venous thrombosis have either a congenital or acquired dysfibrinogenemia.
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The permanent exhibits include sections on anatomy, pathology, congenital disorders, toxicology, techniques of Thai traditional medicine, and forensic pathology. In 2008, the temporary exhibit featured the role of Siriraj Hospital during the 2004 tsunami that devastated the Andaman coastline of Thailand and other countries. The latest museum is Siriraj Bimuksthan Museum, opened in early 2013. The museum is housed in the renovated vintage architecture of the old Bangkok Noi railway station, next to Siriraj's newly opened private subsidiary Siriraj Piyamaharajkarun Hospital.
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Many of the congenital malformations found with Malpuech syndrome can be corrected surgically. These include cleft lip and palate, omphalocele, urogenital and craniofacial abnormalities, skeletal deformities such as a caudal appendage or scoliosis, and hernias of the umbillicus. The primary area of concern for these procedures applied to a neonate with congenital disorders including Malpuech syndrome regards the logistics of anesthesia. Methods like tracheal intubation for management of the airway during general anesthesia can be hampered by the even smaller, or maldeveloped mouth of the infant.
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As a result of Blakemore's team's research it is a possibility that in utero transplants for a variety of congenital disorders may be developed. Blakemore has three board certifications through the American Board of Medical Genetics, Obstetrics and Gynecology, and Maternal-Fetal Medicine. In addition to her medical career, Blakemore has joined the faculty of Johns Hopkins School of Medicine as an associate professor in oncology, obstetrics, and gynecology, and the Johns Hopkins Bloomberg School of Public Health in population and family health sciences.
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Selenium also occurs in organic compounds, such as dimethyl selenide, selenomethionine, selenocysteine and methylselenocysteine, all of which have high bioavailability and are toxic in large doses. Selenium poisoning of water systems may result whenever new agricultural runoff courses through normally dry, undeveloped lands. This process leaches natural soluble selenium compounds (such as selenates) into the water, which may then be concentrated in new "wetlands" as the water evaporates. High selenium levels produced in this fashion have been found to have caused certain congenital disorders in wetland birds.
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After researching folklore traditions gathered primarily from Gaelic areas of Scotland, an authority on congenital disorders, Susan Schoon Eberly, has speculated the tale of the Ghillie Dhu may have a basis in a human being with a medical condition; other academics, such as Carole G. Silver, Professor of English at Stern College for Women, agree and suggest he was a dwarf. Eberly maintained several other solitary or individual fairies, including the Brownie and the Manx Fenodyree, could also have a medical, rather than supernatural, explanation.
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Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders.
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Surgery to the vagina is done to correct congenital defects to the vagina, urethra and rectum. It will correct protrusion of the urinary bladder into the vagina (cystocele) and protrusion of the rectum (rectocele) into the vagina. Often, a vaginoplasty is performed to repair the vagina and its attached structures due to trauma or injury. Congenital disorders such as adrenal hyperplasia can affect the structure and function of the vagina and sometimes the vagina is absent; these can be reconstructed or formed, using a vaginoplasty.
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EUROCAT is a European organization that describes itself as "a network of population-based registries for the epidemiological surveillance of congenital anomalies, covering 1.5 million births in 20 countries of Europe". They were founded in 1979, with the goal of improving the collection of data about congenital disorders, and the standardization of that data. They have published extensions to ICD-10 Chapter Q, which helps to provide unique codes for individual conditions. , approximately a quarter of new births in the European Union are reported to EUROCAT.
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This allows embryos that are not affected by defined genetic diseases to be selected and then transferred to the mother's uterus. Sacrococcygeal teratomas, tumours formed from different types of tissue, that can form, are thought to be related to primitive streak remnants, which ordinarily disappear. First arch syndromes are congenital disorders of facial deformities, caused by the failure of neural crest cells to migrate to the first pharyngeal arch. Spina bifida a congenital disorder is the result of the incomplete closure of the neural tube.
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Aminoaciduria occurs when the urine contains abnormally high amounts of amino acids. In the healthy kidney, the glomeruli filter all amino acids out of the blood, and the renal tubules then reabsorb over 95% of the filtered amino acids back into the blood. In overflow aminoaciduria, abnormally high concentrations of amino acids in the blood plasma overwhelm the resorptive capacity of the renal tubules, resulting in high concentrations of amino acids in the urine. This may be caused by congenital disorders of amino acid metabolism, for example, phenylketonuria, or may be secondary to liver disease.
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Maternal impression, according to a long-discredited medical theory, was a phenomenon that explained the existence of birth defects and congenital disorders. The theory stated that an emotional stimulus experienced by a pregnant woman could influence the development of the fetus. For example, it was sometimes supposed that the mother of the Elephant Man was frightened by an elephant during her pregnancy, thus "imprinting" the memory of the elephant onto the gestating fetus. Mental problems, such as schizophrenia and depression, were believed to be a manifestation of similar disordered feelings in the mother.
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Subsequently, SCCA agreed to pay a $250,000 fine and institute new prescription drug protocols to prevent future fraud. 2015: Rainier Storb, MD, received a $12.9 million grant to research new methods for improving the safety of stem-cell transplantation for people with congenital disorders. 2016: SCCA opened the Prostate Cancer Genetics Clinic. The first of its kind in the United States, this clinic offers genetic testing, counseling, and consultations to help patients determine if they carry inherited genes that increase their risk of contracting various forms of prostate cancer.
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As a surgeon, he specialized in traumatic brain injuries, brain and spinal cord tumors, achondroplasia, neurological and congenital disorders, craniosynostosis, epilepsy, and trigeminal neuralgia. He has said that his hand–eye coordination and three- dimensional reasoning made him a gifted surgeon. While at Johns Hopkins, Carson figured in the revival of the hemispherectomy, a drastic surgical procedure in which part or all of one hemisphere of the brain is removed to control severe pediatric epilepsy. Encouraged by John M. Freeman, he refined the procedure in the 1980s and performed it many times.
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1 - morula, 2 - blastula 1 - blastula, 2 - gastrula with blastopore; orange - ectoderm, red - endoderm Embryology (from Greek ἔμβρυον, embryon, "the unborn, embryo"; and -λογία, -logia) is the branch of biology that studies the prenatal development of gametes (sex cells), fertilization, and development of embryos and fetuses. Additionally, embryology encompasses the study of congenital disorders that occur before birth, known as teratology. Early embryology was proposed by Marcello Malpighi, and known as preformationism, the theory that organisms develop from pre-existing miniature versions of themselves. Then Aristotle proposed the theory that is now accepted, epigenesis.
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Bogdan was blind in one eye, most likely after a wound received during one of his many battles. While the rules of succession to the throne did exclude an impaired individual, as însemnat ("marked"), they seem to have applied just to people who had been afflicted before their candidacy to the throne, and certainly for those with congenital disorders. He was married to Stana, Nastasia and finally to Ruxandra – daughter of Wallachian Prince Mihnea cel Rău. He was buried next to his father (and other members of his family) in Putna Monastery.
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Because hypertelorism is an anatomic condition associated with a heterogeneous group of congenital disorders, it is believed that the underlying mechanism of hypertelorism is also heterogeneous. Theories include too early ossification of the lower wings of the sphenoid, an increased space between the orbita, due to increasing width of the ethmoid sinuses, field defects during the development, a nasal capsule that fails to form, leading to a failure in normal medial orbital migration and also a disturbance in the formation of the cranial base, which can be seen in syndromes like Apert and Crouzon.
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Jessie Saxby, in Shetland Traditional Lore writes: After researching folklore traditions gathered primarily from Gaelic areas of Scotland, an authority on congenital disorders, Susan Schoon Eberly, has speculated the tale of the wulver may have a basis in a human being with a medical condition; she suggests it may be Hunter syndrome. Although this approach has been critiqued by some as not overly useful with it being claimed that due to the lack of description given to the Wulver and other mythological creatures as well as the nature of oral tradition changing descriptions overtime.
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For statistical reasons, the main data series used to research dysmelia cases started by chance at the same time as the approval date for thalidomide. Alt URL After the Nazi regime with its Law for the Prevention of Hereditarily Diseased Offspring used mandatory statistical monitoring to commit various crimes, western Germany had been very reluctant to monitor congenital disorders in a similarly strict way. The parliamentary report rejected any relation with radioactivity and the abnormal increase of dysmelia. Also the DFG research project installed after the Mende request was not helpful.
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Ring chromosome syndromes are rare congenital disorders that are likely to occur in both males and females, and the symptoms can be observed from birth since it arises during the embryonic stage. All races and ethnicities are prone to the disorders and the risk can be higher if the parents are carriers since it is genetically inherited. Any of the 23 pairs of chromosomes can be ringed, and a recent study conducted by the 'Human Ring Chromosome Registry' in China revealed that the more frequent forms of ring chromosomes reported were 13, 15, 18 and 22.
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His contributions to the field of carbohydrate biochemistry include the discovery and characterization of 12 glycosyltransferases involved in the synthesis of N- and O-linked glycans, thereby defining processes crucial for the formation of branched oligosaccharides on glycoproteins that include cell surface receptors and secreted proteins. Schachter also helped characterize the first Carbohydrate-Deficient Glycoprotein Syndrome (CDG-IIa; now known as Congenital Disorders of Glycosylation). He helped show that GnTII null mice are excellent models for human CDG-IIa. Other work on mice involving null mutations in GnTI, GnTII and GnTIII established the importance of N-glycans in metazoan development.
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The EXIT procedure, or ex utero intrapartum treatment procedure, is a specialized surgical delivery procedure used to deliver babies who have airway compression. Causes of airway compression in newborn babies result from a number of rare congenital disorders, including bronchopulmonary sequestration, congenital cystic adenomatoid malformation, mouth or neck tumor such as teratoma, and lung or pleural tumor such as pleuropulmonary blastoma. Airway compression discovered at birth is a medical emergency. In many cases, however, the airway compression is discovered during prenatal ultrasound exams, permitting time to plan a safe delivery using the EXIT procedure or other means.
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Lewis Spitz (born 25 August 1939 in Pretoria) is a paediatric surgeon who is internationally recognised as a leader in paediatric surgery and is known for his work on congenital abnormalities of the oesophagus, particularly oesophageal atresia, oesophageal replacement and gastroesophageal reflux especially in neurologically impaired children. He championed the plight of children with cerebral palsy and other congenital disorders; demonstrating that appropriate surgery could improve their quality of life. He is the leading authority in the management of conjoined twins and is recognised as the foremost international expert in this field. Spitz is the Emeritus Nuffield Professor of Paediatric Surgery.
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Congenital diseases include untreated cryptorchidism where the testicles fail to descend from the abdomen. Other congenital disorders are genetic in nature. In males, there can be deformities in the seminiferous tubule as in Klinefelter syndrome (most common cause in males), defects in the production of testicular steroids, receptor mutations preventing testicular hormones from working, chromosomal abnormalities such as Noonan syndrome, or problems with the cells making up the testes. Females can also have chromosomal abnormalities such as Turner syndrome (most common cause in girls), XX gonadal dysgenesis, and XY gonadal dysgenesis, problems in the ovarian hormone synthesis pathway such as aromatase deficiency or congenital anatomical deformities such as Müllerian agenesis.
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Mutations in the PCNT gene have been linked to Down syndrome (DS); two types of primordial dwarfism, MOPDII and Seckel syndrome; intrauterine growth retardation; cardiomyopathy; early onset type 2 diabetes; chronic myeloid leukemia (CML); bipolar affective disorder; and other congenital disorders . In particular, the short stature and small brain size characteristic of MOPDII and Seckel syndrome have been attributed to centrosome dysfunction and cell growth disruption as a result of PCNT malfunction. Additionally, premature aging, cerebral involution, inflammatory and immune responses are linked to DS associated with PCNT mutations, while severe insulin resistance, diabetes, and dyslipidemia are featured in MOPDII associated with PCNT mutations.
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Subsequently, what was intended to be one-time fundraiser to aid Children's Memorial Health Institute in Warsaw became an annual public fundraiser held across the country. In 2004 the GOCC raised money for the victims of tsunami in Sri Lanka. In 2010, after southern Poland has been struck by flooding a special fundraiser was held in aid of flood relief. Every year, millions of Poles donate to the Foundation and throughout 24 Grand Finales, the Foundation collected over $130 million for cardiac-surgery, neonatology, paediatric oncology, kidney diseases, congenital disorders, newborns and children under 5 years of age who have been victims of accidents .
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A finger is a limb of the human body and a type of digit, an organ of manipulation and sensation found in the hands of humans and other primates.Chambers 1998 page 603Oxford Illustrated pages 311,380 Normally humans have five digits, the bones of which are termed phalanges, on each hand, although some people have more or fewer than five due to congenital disorders such as polydactyly or oligodactyly, or accidental or medical amputations. The first digit is the thumb, followed by index finger, middle finger, ring finger, and little finger or pinkie. According to different definitions, the thumb can be called a finger, or not.
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In 1967, Apgar became vice president and director of basic research at The National Foundation-March of Dimes. During the rubella pandemic of 1964–65, Apgar became an advocate for universal vaccination to prevent mother-to-child transmission of rubella. Rubella can cause serious congenital disorders if a woman becomes infected while pregnant. Between 1964 and 1965, the United States had an estimated 12.5 million rubella cases, which led to 11,000 miscarriages or therapeutic abortions and 20,000 cases of congenital rubella syndrome. These led to 2,100 deaths in infancy, 12,000 cases of deafness, 3,580 cases of blindness due to cataracts and/or microphthalmia and 1,800 cases of intellectual disability.
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Tetraplegia is caused by damage to the brain or the spinal cord at a high level. The injury, which is known as a lesion, causes victims to lose partial or total function of all four limbs, meaning the arms and the legs. Typical causes of this damage are trauma (such as a traffic collision, diving into shallow water, a fall, a sports injury), disease (such as transverse myelitis, Guillain–Barré syndrome, multiple sclerosis, or polio), or congenital disorders (such as muscular dystrophy). Tetraplegia is defined in many ways; C1–C4 usually affects arm movement more so than a C5–C7 injury; however, all tetraplegics have or have had some kind of finger dysfunction.
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In contrast, perturbation of glycan processing (enzymatic removal/addition of carbohydrate residues to the glycan), which occurs in both the endoplasmic reticulum and Golgi apparatus, is dispensable for isolated cells (as evidence by survival with glycosides inhibitors) but can lead to human disease (congenital disorders of glycosylation) and can be lethal in animal models. It is therefore likely that the fine processing of glycans is important for endogenous functionality, such as cell trafficking, but that this is likely to have been secondary to its role in host-pathogen interactions. A famous example of this latter effect is the ABO blood group system. Glycosylation is also known to occur on nucleocytoplasmic proteins in the form of O-GlcNAc.
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Contaminated or polluted soil directly affects human health through direct contact with soil or via inhalation of soil contaminants which have vaporized; potentially greater threats are posed by the infiltration of soil contamination into groundwater aquifers used for human consumption, sometimes in areas apparently far removed from any apparent source of above ground contamination. This tends to result in the development of pollution-related diseases. Health consequences from exposure to soil contamination vary greatly depending on pollutant type, pathway of attack and vulnerability of the exposed population. Chronic exposure to chromium, lead and other metals, petroleum, solvents, and many pesticide and herbicide formulations can be carcinogenic, can cause congenital disorders, or can cause other chronic health conditions.
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After completing the degree, she joined the Leeds General Infirmary department of neurosurgery, where she developed a technique known as extracranial–intracranial bypass to increase blood flow to the brain in patients with intracranial aneurysms and cerebral ischaemia. In the 1970s, Bannister moved to Manchester, where she was appointed a consultant at North Manchester General Hospital and Booth Hall Children's Hospital. She maintained a research laboratory at the University of Manchester Institute of Science and Technology; her main research interests were the brain's blood supply and congenital disorders of the central nervous system. The latter led her to establish a fetal management unit at St Mary's Hospital, where she saw pregnant patients whose children had spina bifida and hydrocephalus.
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For example, most states in the USA require newborns to be screened for phenylketonuria and hypothyroidism, among other congenital disorders. Hypothesis: “The newborns have phenylketonuria and hypothyroidism” Null Hypothesis (H0): “The newborns do not have phenylketonuria and hypothyroidism,” Type I error (false positive): The true fact is that the newborns do not have phenylketonuria and hypothyroidism but we consider they have the disorders according to the data. Type II error (false negative): The true fact is that the newborns have phenylketonuria and hypothyroidism but we consider they do not have the disorders according to the data. Although they display a high rate of false positives, the screening tests are considered valuable because they greatly increase the likelihood of detecting these disorders at a far earlier stage.
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More than a million of different probes can be synthesized on an array with Affymetrix's Genechip technology with a detection limit of one to ten copies of mRNA per well. Optimized microarrays are typically considered to produce repeatable relative quantitation of different targets. Currently, FDA have already approved a number of diagnostics assays utilizing microarrays: Agendia's MammaPrint assays can inform the breast cancer recurrence risk by profiling the expression of 70 genes related to breast cancer; Autogenomics INFNITI CYP2C19 assay can profile genetic polymorphisms, whose impacts on therapeutic response to antidepressants are great; and Affymetrix's CytoScan Dx can evaluate intellectual disabilities and congenital disorders by analyzing chromosomal mutation. In the future, the diagnostic tools for cancer will likely to focus on the Next Generation Sequencing(NGS).
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The main ethical concern is that these types of treatments will produce a change that can be passed down to future generations and therefore any error, known or unknown, will also be passed down and will affect the offspring. Some bioethicists, including Ronald Green of Dartmouth College, raise concern that this could result in the accidental introduction of new diseases in future. When considering support for research into germline engineering, ethicists have often suggested that it can be considered unethical not to consider a technology which could improve the lives of children who would be born with congenital disorders. Geneticist George Church claims that he does not expect germline engineering to increase societal disadvantage, and recommends lowering costs and improving education surrounding the topic to dispel these views.
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She received many awards, including honorary doctorates from the Woman's Medical College of Pennsylvania (1964) and Mount Holyoke College (1965), the Elizabeth Blackwell Award from the American Medical Women's Association (1966), the Distinguished Service Award from the American Society of Anesthesiologists (1966), the Alumni Gold Medal for Distinguished Achievement from Columbia University College of Physicians and Surgeons (1973) and the Ralph M. Waters Award from the American Society of Anesthesiologists (1973). In 1973 she was also elected Woman of the Year in Science by the Ladies Home Journal. Apgar was equally at home speaking to teens as she was to the movers and shakers of society. She spoke at March of Dimes Youth Conferences about teen pregnancy and congenital disorders at a time when these topics were considered taboo.
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Such children are at greater risk for congenital disorders, death, and developmental and physical disability, and that risk is proportional to their parents' coefficient of relationship—a measure of how closely the parents are related genetically. But cultural anthropologists have noted that inbreeding avoidance cannot form the sole basis for the incest taboo because the boundaries of the incest prohibition vary widely between cultures, and not necessarily in ways that maximize the avoidance of inbreeding. In some societies, such as those of Ancient Egypt, brother–sister, father–daughter, mother–son, cousin–cousin, aunt–nephew, uncle–niece, and other combinations of relations within a royal family were married as a means of perpetuating the royal lineage.Maurice Godelier, Métamorphoses de la parenté, 2004 Some societies, such as the Balinese and some Inuit tribes, have different views about what constitutes illegal or immoral incest.
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Serum-soluble genotoxic teratogens produce congenital disorders, and in white blood cells causes immune system damage. Human epidemiological evidence is consistent with increased risk of birth defects in the offspring of persons exposed to DU. A 2001 study of 15,000 February 1991 U.S. Gulf War combat veterans and 15,000 control veterans found that the Gulf War veterans were 1.8 (fathers) to 2.8 (mothers) times as likely to have children with birth defects. After examination of children's medical records two years later, the birth defect rate increased by more than 20%: In early 2004, the UK Pensions Appeal Tribunal Service attributed birth defect claims from a February 1991 Gulf War combat veteran to depleted uranium poisoning. Looking at the risk of children of UK Gulf War veterans suffering genetic diseases such as congenital malformations, commonly called "birth defects", one study found that the overall risk of any malformation was 50% higher in Gulf War veterans as compared to other veterans.
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Confirmation of many of the recent cases is pending, and it is difficult to estimate how many cases went unreported before the recent awareness of the risk of virus infections. Brazilian President Dilma Rousseff in a videoconference about the Zika virus at the National Center for Disaster Management. In November 2015, the Zika virus was isolated in a newborn baby from the northeastern state of Ceará, Brazil, with microcephaly and other congenital disorders. The Lancet medical journal reported in January 2016 that the Brazilian Ministry of Health had confirmed 134 cases of microcephaly "believed to be associated with Zika virus infection" with an additional 2,165 cases in 549 counties in 20 states remaining under investigation. An analysis of 574 cases of microcephaly in Brazil during 2015 and the first week of 2016, reported in March 2016, found an association with maternal illness involving rash and fever during the first trimester of pregnancy. During this period, 12 Brazilian states reported increases of at least 3 standard deviations (SDs) in cases of microcephaly compared with 2000–14, with the northeastern states of Bahia, Paraíba and Pernambuco reporting increases of more than 20 SDs.
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