Results 31 to 40 of about 114,297 (258)

Model to Predict Hyperbilirubinemia in Healthy Term and Near-Term Newborns with Exclusive Breast Feeding

, 2014
Background: The aim of this study was to identify high-risk newborns who will subsequently hyperbilirubinemia; develop significant hyperbilirubinemia Days 4 to 10 of life by using the clinical data from the neonate; first three days of life.
曹伯年, Huang, Hsin-Chung;Yang, Hwai-I;Chang, Yu-Hsun;Chang, Rui-Jane;Chen, Mei-Huei;Chen, Chien-Yi;Chou, Hung-Chieh;Hsieh, Wu-Shiun;Tsao, Po-Nien   +1 more
core   +1 more source

Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example

The Application of Clinical Genetics, 2022
Yuqi Yang,1,* Yu Wang,2,* Lingna Zhou,1 Wei Long,2 Bin Yu,1 Huaiyan Wang2 1Department of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou, Jiangsu Province, People’s Republic of China; 2Department of Neonatology ...
Yang Y, Wang Y, Zhou L, Long W, Yu B, Wang H   +5 more
doaj  

R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis [PDF]

, 2001
Hereditary pancreatitis is due to heterozygosity for gain-of-function mutations in the cationic trypsinogen gene which result in increased levels of active trypsin within pancreatic acinar cells and autodigestion of the pancreas.
Dertinger, S., Ruebsamen, H., Lohse, P., Beck, M., Tautermann, G., Drexel, H.   +5 more
core   +1 more source

Coexistence of hereditary spherocytosis with SPTB P.Trp1150 gene variant and Gilbert syndrome: A case report and literature review

Open Life Sciences
A congenital protein anomaly in the erythrocyte membrane skeleton causes a hereditary haemolytic illness known as hereditary spherocytosis (HS). The primary characteristic of HS is an increase in the number of tiny spherical red blood cells in the ...
Chi Changwei, Wu Shenghao, Zhou Wenjin, Hu Yingying, Lu Yanwei, Weng Shanshan   +5 more
doaj   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Gilbert’s Syndrome: Terminology, Epidemiology, Genetics, Pathogenesis (Part I)

Zdorovʹe Rebenka, 2016
The aim of the review was the analysis of the literature about the prevalence, etiology, genetics and pathogenesis of Gilbert’s syndrome (GS). The scientific literature regarding GS with the keywords «Gilbert's syndrome», «hyperbilirubinemia», «uridine ...
T.V. Sorokman, O.-M.V. Popeliuk, O.V. Makarova   +2 more
doaj   +1 more source

Prevalence and outcome of cholelithiasis in children with sickle cell disease at King Saud Medical City, Saudi Arabia

Journal of Applied Hematology, 2021
BACKGROUND: Sickle cell disease (SCD) is one of the common hereditary blood diseases in Saudi Arabia. The hepatobiliary system is one of the common organs to be affected either directly from the sickling process or indirectly as a result of chronic ...
Adel Homoud Almudaibigh, Fawaz Abdulaziz Alkasim, Eatidal Fathey Ghareeb   +2 more
doaj   +1 more source

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study [PDF]

, 2004
We performed a prospective genotype-phenotype study using molecular screening and clinical assessment to compare the severity of disease and the risk of sarcoma in 172 individuals (78 families) with hereditary multiple exostoses.
Monaco, AP, Porter, JR, Simpson, AHRW, Lonie, L, Porter, D E, Simpson, Hamish, Porter, DE, Porter, J R, Monaco, Anthony, Simpson, AH, Monaco, A P, Fraser, M, Dobson-Stone, C   +12 more
core   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Primary Biliary Cirrhosis and Hemolytic Anemia Confusing Serum Bilirubin Levels

Canadian Journal of Gastroenterology, 2000
Hemolysis is observed in more than 50% of patients with cirrhosis. However, there has been little documention of the association of primary biliary cirrhosis with autoimmune hemolytic anemia.
M Brackstone, Cameron N Ghent
doaj   +1 more source