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*  Crigler-Najjar syndrome - SNPedia
Crigler-Najjar syndrome is a rare inherited condition that affects the metabolism of bilirubin, a breakdown product of red blood cells. Wikipedia Liver or hepatocyte transplantation may be necessary in Type I disease, which is much more severe than Type II. Gene therapy is being investigated for this condition. Carriers of a single risk allele are usually not affected. SNPs associated with this syndrome (and often with Gilbert's syndrome and/or transient newborn jaundice) include ...
  https://www.snpedia.com/index.php/Crigler-Najjar_syndrome
*  Crigler-Najjar syndrome - Wikipedia
Crigler-Najjar syndrome or CNS 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. This syndrome is divided into types I and II, with the latter sometimes called Arias syndrome. These two types, along with Gilbert's syndrome, Dubin-Johnson syndrome, and Rotor syndrome, make up the five known hereditary defects in bilirubin metabolism. Unlike Gilbert's syndrome, only a few cases of CNS are known. It is caused by abnormalities in the gene coding for uridine diphosphogluconurate glucuronosyltransferase (UGT1A1). UGT1A1 normally catalyzes the conjugation of bilirubin ...
  https://en.wikipedia.org/wiki/Crigler%E2%80%93Najjar_syndrome
*  Prolonged Unconjugated Hyperbilirubinemia Associated With Breast Milk and Mutations of the Bilirubin Uridine Diphosphate-...
Fifteen of the 17 cases of the prolonged unconjugated hyperbilirubinemia associated with breast milk had missense mutations of the bilirubin UGT1A1 gene (Table 2). Missense mutations identical to those found in the infants with the hyperbilirubinemia were also detected in our previous studies for Gilbert's syndrome and Crigler-Najjar syndrome type II.10,11,19 G71R is the most common missense mutation we found in our analyses,10 and it corresponds to a UGT1A1 polymorphism in the Japanese population (the allele frequency is .16).12 G71R may be the most common UGT1A1 mutation in Asians.20Recently we revealed the mutation to be a genetic basis of fasting hyperbilirubinemia.21 In our in vitro expression study the G71R form of the enzyme had 32% and 60% of normal activity in the homozygous and heterozygous states, respectively.22 Our recent study of neonatal hyperbilirubinemia showed that heterozygous G71R was a risk factor for elevated serum ...
  http://pediatrics.aappublications.org/content/106/5/e59
*  Northside Hospital - Crigler-Najjar syndrome
Crigler-Najjar syndrome occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to jaundice (yellow discoloration of skin and eyes) and damage to the brain, muscles, and nerves. Crigler-Najjar (type 1) is the form of the disease that starts early in life. Arias syndrome (type 2) starts later in life. The syndrome runs in families (inherited). A child must receive a copy of the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the enzyme activity of a normal adult, but do not have symptoms. ...
  http://www.northside.com/HealthLibrary/?Path=HIE+Multimedia%5C1%5C001127.htm
*  DMOZ - Health: Conditions and Diseases: Nutritional and Metabolic Disorders: Inherited: Crigler-Najjar Syndrome
An inherited disorder of bilirubin metabolism in which bilirubin cannot be changed into its water-soluble form, bilirubin glucuronide. This is caused by an enzyme imbalance in the liver.
  http://dmoztools.net/Health/Conditions_and_Diseases/Nutritional_and_Metabolic_Disorders/Inherited/Crigler-Najjar_Syndrome/
*  Arias Disease: Treatment
Another name for Arias Disease is Crigler-Najjar Syndrome. Treatment of Crigler-Najjar syndrome may include: * Phototherapy: - UV light therapy to lower ...
  http://www.freemd.com/arias-disease/treatment.htm
*  Lucey-Driscoll syndrome - Wikipedia
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. The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn. It is different from breast feeding-associated jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones). A defect in the UGT1A1-gene, also linked to Crigler-Najjar syndrome and Gilbert's syndrome, is responsible for the congenital form of Lucey-Driscoll syndrome. "Lucey-Driscoll syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-08-27. Online Mendelian Inheritance in Man (OMIM) 237900 - transient familial neonatal hyperbilirubinemia, breast ...
  https://en.wikipedia.org/wiki/Lucey%E2%80%93Driscoll_syndrome
*  Bilirubinuria - Wikipedia
In medicine, bilirubinuria is an abnormality in which conjugated bilirubin is detected in the urine. The term "biliuria" is very similar, but more general. It refers to the presence of any bile pigment in the urine. Conjugated bilirubin is detected in urine at bilirubinemia of approximately 30-34 mmol/l or 20 mg/dL. In this concentration of conjugated bilirubin in the blood appears yellowness of the mucous membranes and sclera. The most common cause of bilirubinuria is hepatocellular disease. More rare causes include inherited disorders, such as Dubin-Johnson syndrome and Rotor syndrome. Although Gilbert's syndrome and Crigler-Najjar syndrome are characterized by increased bilirubin in the serum, the bilirubin in these inherited disorders is not conjugated and thus not excreted in the urine. The increase of stercobilin (urobilin) in the feces and urine is caused by the enhanced intracellular hemolysis of ...
  https://en.wikipedia.org/wiki/Bilirubinuria
*  Auxiliary Liver Transplant for a 14-Year-Old with Crigler Najjar Syndrome in Mumbai
Crigler-Najjar Syndrome occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly.
  http://www.medindia.net/news/auxiliary-liver-transplant-for-criglernajjar-syndrome-150002-1.htm
*  CNS - Wikipedia
CNS may refer to: Cell, Nature, and Science, the three most prestigious scientific journals involved in biomedical research Central nervous system, brain and spinal cord Clinical nurse specialist Coagulase-negative staphylococcus, term to describe all staphylococcus species that are not staphylococcus aureus Computational neuroscience Conserved non-coding sequence, a region of DNA that is conserved through evolution and does not code for proteins Crigler-Najjar syndrome, rare hereditary disease Crystallography and NMR system, software library for computational structural biology Thiocyanate, an organic compound in the cyanate family Color Naming System Chief of the Naval Staff, the formal title for the commander of and highest-ranking officer in the navies of various countries, including: Chief of the Naval Staff and Commander of the Royal Canadian Navy, Canada Chief of the Naval Staff (India) Chief of the Naval Staff (Pakistan) Abbreviation for "Chinese ...
  https://en.wikipedia.org/wiki/CNS
*  Dimerization of human uridine diphosphate glucuronosyltransferase allozymes 1A1 and 1A9 alters their quercetin glucuronidation...
Sigma-Aldrich offers abstracts and full-text articles by [Yan-Qing Liu, Ling-Min Yuan, Zhang-Zhao Gao, Yong-Sheng Xiao, Hong-Ying Sun, Lu-Shan Yu, Su Zeng].
  https://www.sigmaaldrich.com/catalog/papers/27025983
*  What is the cause for unconjugated hyperbilirubinemia and high ALT ? - Doctor's insight on HealthcareMagic
Question - What is the cause for unconjugated hyperbilirubinemia and high ALT ?. Ask a Doctor about diagnosis, treatment and medication for Sciatica, Ask a Gastroenterologist
  http://www.healthcaremagic.com/questions/What-is-the-cause-for-unconjugated-hyperbilirubinemia-and-high-ALT/159476
*  The Effect of Hyperbilirubinemia on CV Disease, Neurocog Function and Renal Function - Full Text View - ClinicalTrials.gov
Use of some protease inhibitors is associated with unconjugated hyperbilirubinemia as a result of inhibition of the UGT1A1 enzyme.. Elevated levels of unconjugated bilirubin are best characterized among individuals with Gilbert syndrome, which is the most common inherited cause of unconjugated hyperbilirubinemia, present in 3-10% of the general population. Gilbert syndrome arises through variants in the UGT1A1 enzyme, thus these PIs induce a biochemical picture similar to Gilbert syndrome. Although elevations of bilirubin may occasionally lead to scleral icterus or jaundice, cohort studies of individuals with Gilbert syndrome indicate bilirubin elevations may have antioxidant and anti-inflammatory properties and are associated with reduced risk of cardiovascular events.. Inflammation may also be relevant to cardiovascular (CV) risk, neurocognitive impairment and renal disease in HIV infection. This study seeks to investigate any association ...
  https://clinicaltrials.gov/ct2/show/study/NCT01475240?view=record
*  The Effect of Hyperbilirubinemia on CV Disease, Neurocog Function and Renal Function - Full Text View - ClinicalTrials.gov
Use of some protease inhibitors is associated with unconjugated hyperbilirubinemia as a result of inhibition of the UGT1A1 enzyme.. Elevated levels of unconjugated bilirubin are best characterized among individuals with Gilbert syndrome, which is the most common inherited cause of unconjugated hyperbilirubinemia, present in 3-10% of the general population. Gilbert syndrome arises through variants in the UGT1A1 enzyme, thus these PIs induce a biochemical picture similar to Gilbert syndrome. Although elevations of bilirubin may occasionally lead to scleral icterus or jaundice, cohort studies of individuals with Gilbert syndrome indicate bilirubin elevations may have antioxidant and anti-inflammatory properties and are associated with reduced risk of cardiovascular events.. Inflammation may also be relevant to cardiovascular (CV) risk, neurocognitive impairment and renal disease in HIV infection. This study seeks to investigate any association ...
  https://clinicaltrials.gov/show/NCT01475240?order=375
*  The Effect of Hyperbilirubinemia on CV Disease, Neurocog Function and Renal Function - Full Text View - ClinicalTrials.gov
Use of some protease inhibitors is associated with unconjugated hyperbilirubinemia as a result of inhibition of the UGT1A1 enzyme.. Elevated levels of unconjugated bilirubin are best characterized among individuals with Gilbert syndrome, which is the most common inherited cause of unconjugated hyperbilirubinemia, present in 3-10% of the general population. Gilbert syndrome arises through variants in the UGT1A1 enzyme, thus these PIs induce a biochemical picture similar to Gilbert syndrome. Although elevations of bilirubin may occasionally lead to scleral icterus or jaundice, cohort studies of individuals with Gilbert syndrome indicate bilirubin elevations may have antioxidant and anti-inflammatory properties and are associated with reduced risk of cardiovascular events.. Inflammation may also be relevant to cardiovascular (CV) risk, neurocognitive impairment and renal disease in HIV infection. This study seeks to investigate any association ...
  https://clinicaltrials.gov/show/NCT01475240?order=376
*  The Effect of Hyperbilirubinemia on CV Disease, Neurocog Function and Renal Function - Full Text View - ClinicalTrials.gov
Use of some protease inhibitors is associated with unconjugated hyperbilirubinemia as a result of inhibition of the UGT1A1 enzyme.. Elevated levels of unconjugated bilirubin are best characterized among individuals with Gilbert syndrome, which is the most common inherited cause of unconjugated hyperbilirubinemia, present in 3-10% of the general population. Gilbert syndrome arises through variants in the UGT1A1 enzyme, thus these PIs induce a biochemical picture similar to Gilbert syndrome. Although elevations of bilirubin may occasionally lead to scleral icterus or jaundice, cohort studies of individuals with Gilbert syndrome indicate bilirubin elevations may have antioxidant and anti-inflammatory properties and are associated with reduced risk of cardiovascular events.. Inflammation may also be relevant to cardiovascular (CV) risk, neurocognitive impairment and renal disease in HIV infection. This study seeks to investigate any association ...
  https://clinicaltrials.gov/show/NCT01475240?order=633
*  KEGG BRITE: Enzymes - Mus musculus (mouse)
K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17 ...
  http://www.genome.jp/kegg-bin/get_htext?mmu01000+394435
*  Plus it
Hepatic microsomal estrone and estradiol glucuronyltransferase activity were examined in nonpregnant female and pregnant rats and rabbits. Pregnancy decreased glucuronyltransferase activity towards both substrates by 30% in rats and rabbits when activity was expressed per mg of microsomal protein. Because of the increased size of the liver in pregnancy in the rat, activity was increased in this species when expressed per whole liver. The size of the liver was not increased in pregnancy in the rabbit, so that activity per whole liver was also decreased in this species. Pretreatment of nonpregnant rats with 3-methylcholanthrene had little effect on estradiol glucuronyltransferase activity and increased estrone glucuronyltransferase activity 35%. Similar pretreatment of pregnant rats, however, increased estradiol glucuronyltransferase activity approximately twofold and estrone glucuronyltransferase activity approximately threefold. Phenobarbital was a much less potent inducer of estrone and ...
  http://dmd.aspetjournals.org/content/7/5/247
*  GSK1349572 Hepatic Impairment Study - Full Text View - ClinicalTrials.gov
GSK1349572 is an integrase inhibitor that is currently in clinical development for the treatment of human immunodeficiency virus (HIV) infection. GSK1349572 is metabolized primarily by uridine diphosphate glucuronosyltransferase (UGT)1A1 with a minor role of Cytochrome P450 (CYP)3A. Hepatic impairment could potentially alter the clearance and plasma protein binding of GSK1349572. This study will evaluate the single dose pharmacokinetics and safety of GSK1349572 in healthy subjects and in subjects with mild or moderate hepatic impairment based on Child-Pugh category.. This is a single-dose, open-label, parallel group, two-part, adaptive study in adult males and females with mild or moderate hepatic impairment and matched, healthy control subjects with normal hepatic function. Healthy control subjects (16) will be matched for gender, age, and BMI to the subjects in the mild (8) or moderate (8) hepatic impairment category. In Part 1, approximately 8 subjects with moderate hepatic impairment (cohort ...
  https://clinicaltrials.gov/show/NCT01231529
*  GSK1349572 Hepatic Impairment Study - Full Text View - ClinicalTrials.gov
GSK1349572 is an integrase inhibitor that is currently in clinical development for the treatment of human immunodeficiency virus (HIV) infection. GSK1349572 is metabolized primarily by uridine diphosphate glucuronosyltransferase (UGT)1A1 with a minor role of Cytochrome P450 (CYP)3A. Hepatic impairment could potentially alter the clearance and plasma protein binding of GSK1349572. This study will evaluate the single dose pharmacokinetics and safety of GSK1349572 in healthy subjects and in subjects with mild or moderate hepatic impairment based on Child-Pugh category.. This is a single-dose, open-label, parallel group, two-part, adaptive study in adult males and females with mild or moderate hepatic impairment and matched, healthy control subjects with normal hepatic function. Healthy control subjects (16) will be matched for gender, age, and BMI to the subjects in the mild (8) or moderate (8) hepatic impairment category. In Part 1, approximately 8 subjects with moderate hepatic impairment (cohort ...
  https://clinicaltrials.gov/show/NCT01231529?order=29
*  GSK1349572 Hepatic Impairment Study - Full Text View - ClinicalTrials.gov
GSK1349572 is an integrase inhibitor that is currently in clinical development for the treatment of human immunodeficiency virus (HIV) infection. GSK1349572 is metabolized primarily by uridine diphosphate glucuronosyltransferase (UGT)1A1 with a minor role of Cytochrome P450 (CYP)3A. Hepatic impairment could potentially alter the clearance and plasma protein binding of GSK1349572. This study will evaluate the single dose pharmacokinetics and safety of GSK1349572 in healthy subjects and in subjects with mild or moderate hepatic impairment based on Child-Pugh category.. This is a single-dose, open-label, parallel group, two-part, adaptive study in adult males and females with mild or moderate hepatic impairment and matched, healthy control subjects with normal hepatic function. Healthy control subjects (16) will be matched for gender, age, and BMI to the subjects in the mild (8) or moderate (8) hepatic impairment category. In Part 1, approximately 8 subjects with moderate hepatic impairment (cohort ...
  https://clinicaltrials.gov/show/NCT01231529?order=75
*  Pharmaceutics | Free Full-Text | Antiretroviral Drug Interactions: Overview of Interactions Involving New and Investigational...
Antiretrovirals are prone to drug-drug and drug-food interactions that can result in subtherapeutic or supratherapeutic concentrations. Interactions between antiretrovirals and medications for other diseases are common due to shared metabolism through cytochrome P450 (CYP450) and uridine diphosphate glucuronosyltransferase (UGT) enzymes and transport by membrane proteins (e.g., p-glycoprotein, organic anion-transporting polypeptide). The clinical significance of antiretroviral drug interactions is reviewed, with a focus on new and investigational agents. An overview of the mechanistic basis for drug interactions and the effect of individual antiretrovirals on CYP450 and UGT isoforms are provided. Interactions between antiretrovirals and medications for other co-morbidities are summarized. The role of therapeutic drug monitoring in the detection and management of antiretroviral drug interactions is also briefly discussed.
  http://www.mdpi.com/1999-4923/3/4/745
*  Trichorhinophalangeal syndrome type I and systemic lupus erythematosus with complement C4A homozygous null alleles in the same...
A three generation family from northern Sweden with both trichorhinophalangeal syndrome type I (TRP I) and systemic lupus erythematosus (SLE)-like syndrome with complement C4 homozygous null alleles is described. Five family members in three generations were affected by the TRP I syndrome, indicating autosomal dominant inheritance. Two members had clinical and laboratory signs of SLE and two other members SLE-like syndrome. All living family members in the first and second generation had homozygous C4A null alleles. In three of the adults the two syndromes occurred simultaneously, probably in this family by coincidence. ...
  http://ard.bmj.com/content/48/9/760
*  Utv.ro - Leapsa: Melodia ta preferata dintr-un film
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  http://www.utv.ro/news/leapsa-melodia-a-preferata-dintr-un-film/