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Crigler-Najjar syndrome: looking to the future does not make us forget the present
Recently, the safety and efficacy of gene therapy were evaluated in patients with Crigler-Najjar syndrome (CNS). Although it is a promising curative...
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Coexistence of mutations of Gilbert’s syndrome and Crigler-Najjar syndrome in an infant with unconjugated hyperbilirubinemia—a case report
BackgroundJaundice in the newborn period is a very common entity; rare inherited causes are often forgotten. Persistent unconjugated...
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Gilbert or Crigler–Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity
BackgroundSeveral mutations of bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) have been reported in patients with unconjugated...
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A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I
BackgroundCrigler Najjar type 1 is a rare autosomal recessive condition caused by the absence of UDPGT enzyme due to mutations in the UGT1A1 gene....
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Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome
BackgroundInherited unconjugated hyperbilirubinemia is caused by variants in the gene UGT1A1 leading to Gilbert’s syndrome and Crigler-Najjar...
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Next-generation sequencing based newborn screening and comparative analysis with MS/MS
BackgroundNewborn screening (NBS), such as tandem mass spectrometry (MS/MS), may yield false positive/negative results. Next-generation sequencing...
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Bilirubin metabolism: delving into the cellular and molecular mechanisms to predict complications
Bilirubin is a metabolic product of heme, and an increase in its level may be toxic to the body. It may be conjugated or unconjugated. Encephalopathy...
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Gene therapy for liver diseases — progress and challenges
Gene therapy is poised to revolutionize modern medicine, with seemingly unlimited potential for treating and curing genetic disorders. For otherwise...
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Leveraging GWAS data derived from a large cooperative group trial to assess the risk of taxane-induced peripheral neuropathy (TIPN) in patients being treated for breast cancer: Part 2—functional implications of a SNP cluster associated with TIPN risk in patients being treated for breast cancer
IntroductionUsing GWAS data derived from a large collaborative trial (ECOG-5103), we identified a cluster of 267 SNPs which predicted CIPN in...
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Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q
BackgroundPatients with complex phenotypes and a chromosomal translocation are particularly challenging, since several potentially pathogenic...
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Successful living donor liver transplantation plus domino-auxiliary partial orthotopic liver transplantation for pediatric patients with metabolic disorders
PurposeTo investigate the efficacy of living donor liver transplantation (LDLT) plus domino-auxiliary partial orthotopic liver transplantation...
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A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report
BackgroundCrigler-Najjar syndrome (CNs) presents as unconjugated hyperbilirubinemia, as a result of UGT1A1 deficiency, and can be categorized in a...
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An Approach to Investigations of Chronic Liver Disease
Chronic liver disease (CLD) in children is more diverse compared to adults with respect to the etiology, progression and response to therapy. After...
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Indocyanine green (ICG) fluorescent cholangiography during laparoscopic cholecystectomy using RUBINA™ technology: preliminary experience in two pediatric surgery centers
BackgroundRecently, we reported the feasibility of indocyanine green (ICG) near-infrared fluorescence (NIRF) imaging to identify extrahepatic biliary...
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Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers
BackgroundTraditional biochemical screening for neonatal inherited metabolic diseases has high false-positive rates and low positive predictive...
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Observational study of birth outcomes in children with inborn errors of metabolism
BackgroundWe examined the birth outcomes of children with inborn errors of metabolism detected at birth or later in life.
MethodsWe carried out a...
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Stem cell therapy for hepatocellular carcinoma and end-stage liver disease
Hepatocellular carcinoma (HCC) is a major health problem worldwide, especially for patients who are suffering from end-stage liver disease (ESLD)....
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Induction of fecal cholesterol excretion is not effective for the treatment of hyperbilirubinemia in Gunn rats
BackgroundUnconjugated hyperbilirubinemia, a feature of neonatal jaundice or Crigler–Najjar syndrome, can lead to neurotoxicity and even death. We...
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Issues, Challenges and Opportunities for Economic Evaluations of Orphan Drugs in Rare Diseases: An Umbrella Review
Background and ObjectivesThere are significant challenges when obtaining clinical and economic evidence for health technology assessments of rare...
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Hepatotoxicity in Adeno-Associated Viral Vector Gene Therapy
Purpose of ReviewRecombinant adeno-associated virus (rAAV) is the commonest viral vector used in gene therapies. With the increase in the number of...
