scholarly journals Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome

2020 ◽  
Author(s):  
Kwang Yeon Kim ◽  
Tae Hyeong Kim ◽  
Moon-Woo Seong ◽  
Sung Sup Park ◽  
Jin Soo Moon ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutation ◽  
University Hospital ◽  
Neonatal Cholestasis ◽  
Johnson Syndrome ◽  
Novel Variants ◽  
National University ◽  
Seoul National University

Abstract Background: Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder presenting as isolated direct hyperbilirubinemia.DJS is rarely diagnosed in the neonatal period. The purpose of this study was to clarify the clinical features of neonatal DJS and to analyze the genetic mutation of adenosine triphosphate-binding cassette subfamily C member 2 (ABCC2).Methods: From 2013 to 2018, 135 infants with neonatal cholestasis at Seoul National University Hospital were enrolled. Genetic analysis was performed by neonatal cholestasis gene panel. To clarify the characteristics of neonatal DJS, the clinical and laboratory results of 6 DJS infants and 129 infants with neonatal cholestasis from other causes were compared.Results: A total of 8 different ABCC2 variants were identified among the 12 alleles of DJS. The most common variant was p.Arg768Trp (33.4%), followed by p.Arg100Ter (16.8%). Three novel variants were identified (p.Gly693Glu, p.Thr394Arg, and p.Asn718Ser). Aspartate transaminase (AST) and alanine transaminase (ALT) levels were significantly lower in infants with DJS than in infants with neonatal cholestasis from other causes. Direct bilirubin and total bilirubin were significantly higher in the infants with DJS.Conclusions: We found three novel variants in 6 Korean infants with DJS. When AST and ALT levels are normal in infants with neonatal cholestasis, genetic analysis of ABCC2 permits an accurate diagnosis.

scholarly journals Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome

2020 ◽  
Author(s):  
Kwang Yeon Kim ◽  
Tae Hyeong Kim ◽  
Moon-Woo Seong ◽  
Sung Sup Park ◽  
Jin Soo Moon ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutation ◽  
University Hospital ◽  
Neonatal Cholestasis ◽  
Johnson Syndrome ◽  
Novel Variants ◽  
National University ◽  
Seoul National University

Abstract Background: Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder presenting as isolated direct hyperbilirubinemia.DJS is rarely diagnosed in the neonatal period. The purpose of this study was to clarify the clinical features of neonatal DJS and to analyze the genetic mutation of adenosine triphosphate-binding cassette subfamily C member 2 (ABCC2).Methods: From 2013 to 2018, 135 infants with neonatal cholestasis at Seoul National University Hospital were enrolled. Genetic analysis was performed by neonatal cholestasis gene panel. To clarify the characteristics of neonatal DJS, the clinical and laboratory results of 6 DJS infants and 129 infants with neonatal cholestasis from other causes were compared.Results: A total of 8 different ABCC2 variants were identified among the 12 alleles of DJS. The most common variant was p.Arg768Trp (33.4%), followed by p.Arg100Ter (16.8%). Three novel variants were identified (p.Gly693Glu, p.Thr394Arg, and p.Asn718Ser). Aspartate transaminase (AST) and alanine transaminase (ALT) levels were significantly lower in infants with DJS than in infants with neonatal cholestasis from other causes. Direct bilirubin and total bilirubin were significantly higher in the infants with DJS.Conclusions: We found three novel variants in 6 Korean infants with DJS. When AST and ALT levels are normal in infants with neonatal cholestasis, genetic analysis of ABCC2 permits an accurate diagnosis.

scholarly journals Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome

2020 ◽  
Author(s):  
Kwang Yeon Kim ◽  
Tae Hyeong Kim ◽  
Moon-Woo Seong ◽  
Sung Sup Park ◽  
Jin Soo Moon ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Total Bilirubin ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutation ◽  
University Hospital ◽  
Neonatal Cholestasis ◽  
Johnson Syndrome ◽  
Novel Variants ◽  
National University ◽  
Seoul National University

Abstract Background : Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder presenting as isolated direct hyperbilirubinemia.DJS is rarely diagnosed in the neonatal period. The purpose of this study was to clarify the clinical features of neonatal DJS and to analyze the genetic mutation of adenosine triphosphate-binding cassette subfamily C member 2 ( ABCC2 ). Methods: From 2013 to 2018, 135 infants with neonatal cholestasis at Seoul National University Hospital were enrolled. To clarify the characteristics of neonatal DJS, the clinical and laboratory results of 6 DJS infants and 129 infants with neonatal cholestasis from other causes were compared. Results: A total of 8 different ABCC2 variants were identified among the 12 alleles of DJS. The most common variant was p.Arg768Trp (33.4%), followed by p.Arg100Ter (16.8%). Three novel variants were identified (p.Gly693Glu, p.Thr394Arg, and p.Asn718Ser). Aspartate transaminase (AST) and alanine transaminase (ALT) levels were significantly lower in infants with DJS than in infants with neonatal cholestasis from other causes. Direct bilirubin and total bilirubin were significantly higher in the infants with DJS. Conclusions : We found three novel variants in 6 Korean infants with DJS. When AST and ALT levels are normal in infants with neonatal cholestasis, genetic analysis of ABCC2 permits an accurate diagnosis.

A Case of Dubin-Johnson Syndrome Presenting as Neonatal Cholestasis With Paucity of Interlobular Bile Ducts

2021 ◽  
pp. 109352662098057
Author(s):  
Kara L Chan ◽  
Natasha Varughese ◽  
Patricia M Jones ◽  
David L Zwick ◽  
Veena Rajaram ◽  
...  
Keyword(s):  
Bile Ducts ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Neonatal Cholestasis ◽  
Molecular Genetic Testing ◽  
Biopsy Tissue ◽  
Johnson Syndrome ◽  
Clinicopathologic Findings ◽  
Conjugated Hyperbilirubinemia

Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder that typically manifests in young adulthood as jaundice with conjugated hyperbilirubinemia. We report a case presenting as neonatal cholestasis with the unexpected histologic finding of paucity of interlobular bile ducts, a feature that is not typically seen in DJS. The diagnosis was confirmed by absent canalicular multidrug-resistance-associated protein 2 (MRP2) immunohistochemical staining on liver biopsy tissue and molecular genetic testing that demonstrated heterozygous mutations in the ATP-Binding Cassette Subfamily C Member 2 ( ABCC2) gene, including a novel missense mutation. This report describes a case of DJS with atypical clinicopathologic findings and suggests that DJS should be considered in patients with neonatal cholestasis and bile duct paucity.

scholarly journals Screening for early detection of lung cancer: results from Seoul National University Hospital.

1991 ◽  
Vol 38 (2) ◽  
pp. 119-127
Author(s):  
Yong Chol Han ◽  
Chul Gyu Yoo ◽  
Young Whan Kim ◽  
Sung Koo Han ◽  
Young Soo Shim ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Early Detection ◽  
University Hospital ◽  
National University ◽  
Seoul National University

Abstract TMP45: Usefulness of Susceptibility Vessel Sign With Bright Vessel Appearance in Acute Ischemic Stroke

Stroke ◽  
2016 ◽  
Vol 47 (suppl_1) ◽  
Author(s):  
Han-Gil Jeong ◽  
Beom-Joon Kim ◽  
Chi Kyung Kim ◽  
Jun Yup Kim ◽  
Dong-Wan Kang ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Arterial Occlusion ◽  
University Hospital ◽  
Large Artery ◽  
Peripheral Arteries ◽  
Inclusion Criteria ◽  
Arterial Segment ◽  
Susceptibility Effect ◽  
National University ◽  
Seoul National University

Background: Red thrombi, composed of fibrin and trapped erythrocytes, have magnetic susceptibility effect. Susceptibility vessel sign (SVS) is visualized more sensitively using susceptibility weighted imaging (SWI) than T2*-weighted imaging. Bright vessel appearance (BVA) on arterial spin labeling (ASL) imaging can visualize occluded arterial segment by arterial transit artifact, more sensitively in small and peripheral branches. We investigated the usefulness of SWI-SVS with BVA to visualize different thrombus and predict stroke mechanisms. Methods: From a total of 564 stroke cases who admitted to Seoul National University Hospital in 2014, the authors collected eligible cases with the following inclusion criteria; (1) Lesion-documented ischemic stroke (N=425); (2) SWI and ASL MRI performed (N=407); (3) Symptomatic arterial occlusion with BVA (N=141). All images were analyzed for the presence and location of SWI-SVS and BVA. The location of SWI-SVS and BVA were classified into (1) proximal, large arteries; distal ICA, M1/2, A1, P1, basilar artery, V4 and (2) peripheral, small arteries; M3/4, P2/3, A2/3, lenticulostriate arteries, three cerebellar arteries. The relationships between SWI-SVS in the presence of BVA and stroke etiologies are explored. Results: Male was 58.2% (n=82) and mean age was 65.7±14.3. Thirty-four percent (n=48/141) of BVA and 30.3% (n=30/99) of SVS was located within small, peripheral arteries. SWI-SVS was more commonly associated with other determined etiology (20.2% vs. 4.8%) and cardioembolism (39.4% vs. 14.3%), but less with large artery atherosclerosis (26.3% vs. 69.0%, P <0.01) compared to the patients without SWI-SVS. Cancer-related hypercoagulability (60%, n=12/20) was most common in other determined cases with SWI-SVS. Multivariate analysis showed that SWI-SVS was an independent predictor of other determined etiology (adjusted OR, 7.20; 95% CI, 1.48-34.99) and cardioembolism (adjusted OR, 5.76; 95% CI, 1.27-26.02) Conclusions: SWI-SVS with BVA may predict ischemic stroke of cardioembolism and other determined etiology. Occlusions of small, peripheral arteries are well visualized with BVA and composition of thrombus can be identified by SWI-SVS.

Genetic disease and culture patterns in Lebanon

1979 ◽  
Vol 11 (2) ◽  
pp. 201-207 ◽  
Author(s):  
P. M. Basson
Keyword(s):  
Autosomal Recessive ◽  
Rural Poverty ◽  
Autosomal Recessive Disorder ◽  
University Hospital ◽  
Lower Socioeconomic Status ◽  
Rural Migrants ◽  
American University ◽  
Palestinian Refugees ◽  
Lower Socioeconomic ◽  
Christian Population

SummaryCases of βthalassaemia and haemophilia (factor 8 and 9 deficiency) in pre-war Lebanon were examined for social and genetic information, using medical records. All diagnosed cases admitted to the American University Hospital in Beirut between 1960 and 1970 were examined. Muslims and families of lower socioeconomic status predominated in the data, and many cases were located in the semi-rural poverty belt of Beirut, where many rural migrants and Palestinian refugees congregate. Parental consanguinity rates among male haemophiliacs were used as estimates for the general population. Consanguinity is higher in the thalassaemic population. In the Christian population the incidence of this autosomal recessive disorder appears to have been inflated by consanguinity more than in the Muslims

Sign in / Sign up

Export Citation Format

Share Document