Results 41 to 50 of about 48,129 (283)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
Population pharmacokinetic modeling of daridorexant, a novel dual orexin receptor antagonist
CPT: Pharmacometrics &Systems Pharmacology, Volume 12, Issue 1, Page 74-86, January 2023., 2023 Abstract The analysis aimed at identifying subject‐specific characteristics (covariates) influencing exposure to daridorexant and quantification of covariate effects to determine clinical relevance. Data from 13 phase I, two phase II, and two phase III studies were pooled to develop a population pharmacokinetic model describing daridorexant ...
Andreas Krause +4 more
wiley +1 more source
Case Reports in Women's Health, 2022 Intrahepatic cholestasis is the most common hepatobiliary complication of pregnancy. Worsening cholestasis, measured by total bile acid levels, has been associated with an increased incidence of adverse fetal outcomes; however, maternal morbidity remains
Minhazur Sarker +3 more
doaj
Sepsis as a cause of intrahepatic cholestasis [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2009 Introduction. The causes of intrahepatic cholestasis include cholestatic viral hepatitis, primary biliary cirrhosis, benign recurrent cholestasis, primary sclerosing cholangitis and sepsis.
Rudić Jelena +5 more
doaj +1 more source
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown +6 more
wiley +1 more source
Pancreatogram in cholestasis. [PDF]
Gut, 1984 Endoscopic retrograde pancreatograms have been examined in patients presenting with cholestasis caused by either primary sclerosing cholangitis (13 subjects), or high cholangiocarcinomata (15 subjects), and in normal individuals (13 subjects). Pancreatograms were reported by two independent observers who had no knowledge of the diagnosis in any case ...
M Chapman, K R Palmer, P B Cotton
openaire +2 more sources
NeoReviews, 2013 Cholestatic jaundice is a common presenting feature of neonatal hepatobiliary and metabolic dysfunction. Any infant who remains jaundiced beyond age 2 to 3 weeks should have the serum bilirubin level fractionated into a conjugated (direct) and unconjugated (indirect) portion. Conjugated hyperbilirubinemia is never physiologic or normal.
Amy G, Feldman, Ronald J, Sokol
openaire +2 more sources
Markers for internal neoplasia in the horse
Veterinary Medicine and Science, Volume 9, Issue 1, Page 132-143, January 2023., 2023 The measurement of tumour markers in horses should be performed only in risk groups or in patients with suspicious clinical/laboratory findings (paraneoplastic syndromes). The results should be interpreted with caution as many factors (e.g., young age, pregnancy and inflammation) affect their concentration or activity.
Karolina Drozdzewska, Heidrun Gehlen
wiley +1 more source
Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome. [PDF]
PLoS ONE, 2016 Cholestasis has been reported during the course of congenital hypothalamic-pituitary deficiency, but crucial information is lacking regarding both its origin and prognosis. We aimed to characterize the course of cholestasis and factors contributing to it
Francois-Xavier Mauvais +4 more
doaj +1 more source
Correlation between Maternal Infection and Infant Cholestasis
Juxta: Jurnal Ilmiah Mahasiswa Kedokteran Universitas Airlangga, 2021 Introduction: Infant cholestasis has been associated to viral infection. Cytomegalovirus in the pathogenesis of neonatal hepatitis has been already known and it is one of the possible etiological of biliary atresia.
Liofelita Christi Adhi Mulia +2 more
doaj +1 more source