Results 81 to 90 of about 147,404 (304)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Hepatology, EarlyView., 2022 Abstract Background and Aims Reliable noninvasive biomarkers are an unmet clinical need for the diagnosis of NASH. This study investigates the diagnostic accuracy of the circulating triggering receptor expressed on myeloid cells 2 (plasma TREM2) as a biomarker for NASH in patients with NAFLD and elevated liver stiffness.
Vineesh Indira Chandran +17 more
wiley +1 more source
Obstructive jaundice at the initial presentation in small-cell lung cancer
, 2010 Nobuaki Ochi1, Nagio Takigawa1, Masayuki Yasugi1, Etsuji Ishida2, Hirofumi Kawamoto2, Akihiko Taniguchi1, Daijiro Harada1, Eiko Hayashi3, Hiroko Toda3, Hiroyuki Yanai3, Mitsune Tanimoto1, Katsuyuki Kiura11Department of Hematology, Oncology and ...
Nobuaki Ochi +3 more
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Investigating Jaundice in the Newborn
, 2007 JAUNDICE IS OFTEN SEEN IN the neonatal period, with 60 percent of full-term and 80 percent of preterm infants having visible jaundice.1 Jaundice is a sign of hyperbilirubinemia, which, in the newborn period, is usually due to an elevated indirect or ...
Jodi Beachy
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 +5 more
wiley +1 more source
, 2014 V diplomskem delu sta predstavljena novorojenček in zlatenica. Opredeljeni so dejavniki tveganja in vzroki za nastanek zlatenica ter presnova in metode določanja bilirubina.
Lovrenčec, Klaudija
core
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Autism Research, EarlyView.ABSTRACT Autism exhibits substantial phenotypic heterogeneity, yet age‐dependent variation in phenotypic profiles and onset timing remains poorly understood. We aimed to characterize stage‐specific phenotypes and temporal onset patterns of autism using longitudinal electronic health records (EHRs).
Fangyi Chen +9 more
wiley +1 more source
Autism Research, EarlyView.ABSTRACT Cognitive tests that reflect the complexity of real‐world social interactions are essential for autism spectrum disorder (ASD)‐related clinical assessment and research. This study developed and adapted a Japanese version of the Reading the Mind in Films (RMF) test, which assesses mind‐reading ability through dynamic, multisensory, and context ...
Sayaka Kawakami +3 more
wiley +1 more source
Albanian Journal of Trauma and Emergency Surgery, 2019 Aim: Mechanical jaundice may lead to adverse metabolic effects in surgical patients. Our aim was to investigate the effects of octreotid and allopurinol on liver histology and functions in rats with experimantally created mechanical jaundice. Methods:
Özgür Ekinci +5 more
doaj +1 more source