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CNS may refer to:
The Johns Hopkins University School of Medicine (JHUSOM), located in Baltimore, Maryland, is the research-intensive medical school of Johns Hopkins University. Founded in 1893, the School of Medicine shares a campus with the Johns Hopkins Hospital and Johns Hopkins Children's Center, established in 1889. Johns Hopkins has consistently ranked among the top medical schools in the United States, in terms of the number of research grants awarded by the National Institutes of Health, among other measures.
Dubin–Johnson syndrome is a rare, autosomal recessive, benign disorder that causes an isolated increase of conjugated bilirubin in the serum. Classically, the condition causes a black liver due to the deposition of a pigment similar to melanin. This condition is associated with a defect in the ability of hepatocytes to secrete conjugated bilirubin into the bile, and is similar to Rotor syndrome. It is usually asymptomatic, but may be diagnosed in early infancy based on laboratory tests. No treatment is usually needed.
Crigler–Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of the heme in red blood cells. The disorder results in a form of nonhemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in infants. The disorder is inherited in an autosomal recessive manner. The annual incidence is estimated at 1 in 1 000 000.
Uridine 5'-diphospho-glucuronosyltransferase is a microsomal glycosyltransferase that catalyzes the transfer of the glucuronic acid component of UDP-glucuronic acid to a small hydrophobic molecule. This is a glucuronidation reaction.
Rotor syndrome is a rare cause of mixed direct (conjugated) and indirect (unconjugated) hyperbilirubinemia, relatively benign, autosomal recessive bilirubin disorder characterized by non-hemolytic jaundice due to the chronic elevation of predominantly conjugated bilirubin.
Lucey–Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism. It is one of several disorders classified as a transient familial neonatal unconjugated hyperbilirubinemia.
UDP-glucuronosyltransferase 1-1 also known as UGT-1A is an enzyme that in humans is encoded by the UGT1A1 gene.
In medicine, bilirubinuria is an abnormality in which conjugated bilirubin is detected in the urine.
UDP-glucuronosyltransferase 1-6 is an enzyme that in humans is encoded by the UGT1A6 gene.
UDP-glucuronosyltransferase 1-4 is an enzyme that in humans is encoded by the UGT1A4 gene.
Hereditary hyperbilirubinemia refers to the condition where levels of bilirubin are elevated, for reasons that can be attributed to a metabolic disorder.
Barton Childs was an American pediatrician and geneticist. He was born in Chicago, Illinois, and graduated from Williams College in 1938. In 1942, he received his M.D. from Johns Hopkins University. Following military service in World War II, he returned to Johns Hopkins for a residency in pediatrics. After a fellowship at Boston Children's Hospital in Boston, he returned to Johns Hopkins University in 1949, where he remained until his retirement in 1981. He remained a professor emeritus in the Department of Pediatrics at The Johns Hopkins University School of Medicine until his death.
Cholestatic pruritus is the sensation of itch due to nearly any liver disease, but the most commonly associated entities are primary biliary cirrhosis, primary sclerosing cholangitis, obstructive choledocholithiasis, carcinoma of the bile duct, cholestasis, and chronic hepatitis C viral infection and other forms of viral hepatitis.
Najjar is an Arabic and Sephardic surname and profession meaning carpenter. Notable people with surnames Najjar, al-Najjar, or al-Najar include:
Ida Stephens Owens was an American scientist known for her work with drug-detoxifying enzymes. She received her Ph.D from Duke University in 1967, making her one of the first two African Americans to receive a doctorate from the school. She spent her career at the National Institutes of Health (NIH), where she worked from 1968 to 2017 and pioneered the study of the genetics of human diseases and drug metabolism.
Crigler may refer to:
Victor Assad Najjar (1914-2002) was a Lebanese-born American pediatrician and microbiologist at the Johns Hopkins Hospital, Vanderbilt University and Tufts University. Along with John Fielding Crigler, Najjar is known for Crigler–Najjar syndrome.
John Fielding Crigler was American pediatrician. Along with Victor Assad Najjar, Crigler is known for Crigler–Najjar syndrome. He studied medicine at the Duke University School of Medicine, graduating in 1943. He trained in pediatrics at Boston Children's Hospital.
References
- ↑ "Crigler-Najjar Syndrome: The Gunn rat". criglernajjar.altervista.org.
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