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Unbound Medicine.
(Rotor's syndrome )
2,656 results
  • Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency Among Children in Eastern Saudi Arabia. [Journal Article]
    Cureus. 2020 Oct 29; 12(10):e11235.Albagshi MH, Alomran S, … AlKhalaf H
  • Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzyme deficiency worldwide. The disease is widely distributed in regions where malaria is prevalent, affecting mostly males because the enzyme is inherited as an X-link recessive pattern. In Saudi Arabia, we lack newborn screening (NBS) for G6PD deficiency, despite early reports about high prevalence…
  • Infantile Pyknocytosis in a Premature Dichorionic Diamniotic Twin. [Journal Article]
    J Pediatr Hematol Oncol. 2020 Nov 23 [Online ahead of print]Spoorenberg ME, Wachters-Hagedoorn RE, … de Kok JB
  • Infantile pyknocytosis is a rare and self-limiting cause of hemolytic anemia in neonates. It can result in severe anemia and hyperbilirubinemia. The pathogenesis is unknown: a genetic origin has been discussed; however, based on the current literature it is not clear which genetic mutations should be considered. We present a case of a premature twin, in whom genetic screening was performed. Genet…
  • [Gene mutation pattern of Gilbert's syndrome combined with viral hepatitis and its relationship with the exploration of clinical data]. [Journal Article]
    Zhonghua Gan Zang Bing Za Zhi. 2020 Oct 20; 28(10):855-860.Ning HB, Jin HM, … Shang J
  • CONCLUSIONS: GS is common in patients with combined viral hepatitis, and there is no significant difference between the incidence of gene mutation, mutation forms, biochemical indexes, and non-hepatitis group. The increase in the number of GS mutation sites does not aggravate the deterioration of bilirubin levels due to the decrease in the content and activity of uridine diphosphate glucuronosyltransferase, and the combination of different mutation sites does not affect the changes of various biochemical indexes, and at the same time it is not related to hepatitis.
  • p.Cys223Tyr mutation causing Crigler-Najjar syndrome type II. [Case Reports]
    JGH Open. 2020 Oct; 4(5):1009-1011.Xiong QF, Zhou H, Yang YF
  • Crigler-Najjar syndrome (CNs) is a rare hereditary unconjugated hyperbilirubinemia caused by mutations in the bilirubin Uridine (UDP) glucuronosyltransferase family 1 member A1 (UGT1A1, ENSG00000241635) gene. Two patients were clinically diagnosed with Crigler-Najjar Syndrome types II (CNs-II) can be clinically diagnosed which were based on the level of total bilirubin, efficacy of phenobarbital …
  • [A case of Gilbert syndrome caused by UGT1A1 gene compound heterozygous mutations]. [Case Reports]
    Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020 May 25; 49(3):406-409.Ou W, Lin S, … Zhu Y
  • A case of Gilbert syndrome (GS) with a heterozygous mutation in the UGT1A1 gene is reported. The patient had no symptoms except for recurrent sclera icterus since childhood. Laboratory examinations revealed an elevated unconjugated bilirubin. Biliary obstruction, hemolysis and other diseases that might cause jaundice were excluded. UGT1A1*28 and c.211G>A heterozygous mutations in UGT1A1 gene were…
  • GeneReviews®: SERAC1 Deficiency [BOOK]
    GeneReviews®. University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AWortmann SB, de Brouwer APM, … Morava EBOOK
  • The phenotypic spectrum of SERAC1 deficiency comprises MEGD(H)EL syndrome (3-methylglutaconic aciduria with deafness-dystonia, [hepatopathy], encephalopathy, and Leigh-like syndrome), juvenile-onset complicated hereditary spastic paraplegia (in 1 consanguineous family), and adult-onset generalized dystonia (in 1 adult male). MEGD(H)EL syndrome is characterized in neonates by hypoglycemia and a se…
  • A Gilbert syndrome-associated haplotype protects against fatty liver disease in humanized transgenic mice. [Journal Article]
    Sci Rep. 2020 05 26; 10(1):8689.Landerer S, Kalthoff S, … Strassburg CP
  • UDP-glucuronosyltransferases 1 A (UGT1A) enzymes are capable of detoxifying a broad range of endo- and xenobiotic compounds, which contributes to antioxidative effects, modulation of inflammation and cytoprotection. In the presence of low-function genetic UGT1A variants fibrosis development is increased in various diseases. This study aimed to examine the role of common UGT1A polymorphisms in NAS…
  • A hard choice for Tomasello. [Comment]
    Behav Brain Sci. 2020 04 30; 43:e81.Pettit P
  • Michael Tomasello explains the human sense of obligation by the role it plays in negotiating practices of acting jointly and the commitments they underwrite. He draws in his work on two models of joint action, one from Michael Bratman, the other from Margaret Gilbert. But Bratman's makes the explanation too difficult to succeed, and Gilbert's makes it too easy.
  • Carbon monoxide breath test assessment of mild hemolysis in Gilbert's syndrome. [Clinical Trial]
    Medicine (Baltimore). 2020 Feb; 99(7):e19109.Kang LL, Ma YJ, Zhang HD
  • CONCLUSIONS: The results indicate that mild hemolysis indeed, exists in a portion of patients with GS and might serve as an important contributor to unconjugated hyperbilirubinemia in addition to UGT1A1 polymorphism. Further studies on the mechanism and the potential risks in various medical treatments might be wanted.
  • [A NEW LOOK AT GILBERT SYNDROME (LITERATURE REVIEW)]. [Review]
    Georgian Med News. 2019 NovGorbunova O, Chernysheva E
  • To illuminate modern ideas about Gilbert's syndrome (GS). GS is a common familial hyperbilirubinemia that can reduce the risk of various age-related diseases due to the antioxidant properties of bilirubin. In this case, slightly elevated unconjugated bilirubin in GS is strongly associated with a "reduced" prevalence of chronic diseases, in particular cardiovascular disease (CVD), as well as CVD-r…
  • Neonatal cholestasis, hyperferritinemia, hypoglycemia and deafness: a diagnostic challenge. [Case Reports]
    BMJ Case Rep. 2019 Dec 01; 12(11)van Westering-Kroon E, Heijligers M, Hütten MC
  • Neonatal conjugated hyperbilirubinemia is a diagnostic challenge. A full term, small for gestational age boy presented with cholestasis, hypoglycemia, hyperferritinemia and severe bilateral deafness. Diagnostic work-up revealed two hereditary diseases: alpha-1-antitrypsin deficiency (PI*ZZ genotype) and autosomal recessive deafness type 3 (compound heterozygous MYO15A gene mutation). In addition,…
  • TGA/Chemometric Test Is Able to Detect the Presence of a Rare Hemoglobin Variant Hb Bibba. [Journal Article]
    Front Mol Biosci. 2019; 6:101.Risoluti R, Caprari P, … Materazzi S
  • In this study the TGA/Chemometric test was applied for diagnosis of a case of congenital hemolytic anemia for which the common first level diagnostic tests were not able to find the erythrocyte congenital defect. A 6 years old girl presented chronic hemolytic anemia characterized by hyperbilirubinemia, increased spleen, negative Coombs tests, normal hemoglobin values, decreased mean corpuscular v…
  • Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management. [Review]
    Med Clin North Am. 2019 Nov; 103(6):991-1003.Schonfeld EA, Brown RS
  • Genetic causes of liver disease lead to a wide range of presentations. This article describes hereditary hemochromatosis, Gilbert syndrome, alpha-1 antitrypsin deficiency, Wilson disease, PFIC, BRIC, and LAL-D. The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. Gilbert syndrome is a benign cause of indirect hyperbilirubinemia. Alpha-1 antitrypsin deficiency c…
  • Hepatotoxicity caused by mebendazole in a patient with Gilbert's syndrome. [Case Reports]
    J Clin Pharm Ther. 2019 Dec; 44(6):985-987.Tolomeo M, Colomba C, … Cascio A
  • CONCLUSIONS: This is the first case report of important liver injury after administration of MBZ in a patient with Gilbert's syndrome. We suspected that a diminished hepatic glucuronidation of MBZ due to the reduced activity of the glucuronosyltransferase enzyme in our patient could have caused an increase in unconjugated toxic metabolites of MBZ and the consequent liver damage.
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