Results 41 to 50 of about 358,326 (257)

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

Neonatal Jaundice: A Study on the Incidence in Children of Rh (D) Negative and 0 Rh (D) Positive Mothers

Acta Medica
Despite advances in neonatal care, neonatal jaundice remains a common problem in maternity wards. The present retrospective epidemiological study collected data on a sample of 710 newborns and compared the incidence of neonatal jaundice in infants born ...
Josef Urbanec, Kateřina Chládková, Magdalena Chvílová Weberová, Sylva Skálová, Jan Kremláček   +4 more
doaj   +1 more source

Jaundice and its associated factors among neonates admitted to selected referral hospitals in southwest oromia, Ethiopia: Multi-center cross-sectional study

Heliyon, 2023
Background: Jaundice is a common clinical problem during the first month of birth throughout the world. Mainly, it is the leading cause of neonatal morbidity and mortality in developing countries.
Gutu Belay, Asfaw Gerbi, Teka Gebremariam, Tsion Tilahun, Emebet Chimdi, Tesema Etefa   +5 more
doaj   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

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, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +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

Prevalence and risk factors for neonatal jaundice: a multicentre analytical cross-sectional study at neonatal intensive care units, Mogadishu, Somalia

BMJ Open
Objectives To determine the prevalence and risk factors for neonatal jaundice among neonates admitted in three large hospitals in Mogadishu, Somalia.Design Hospital-based analytical cross-sectional study.Setting Neonatal intensive care units (NICUs) of ...
Cyrus Theuri, Hawa Ali Warsame, Naima Mukhtar Abdullahi, Abdulkadir Mohamed Ahmed Keynan, Mohamed A M Ahmed   +4 more
doaj   +1 more source

Characterizing Autism Phenotype Onset in the Electronic Health Records to Enable Age‐Specific Screening

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, Jerard Kneifati‐Hayek, Charlotte Zelin, Da Wu, Quan M. Nguyen, Casey N. Ta, Cong Liu, Kai Wang, Wendy K. Chung, Chunhua Weng   +9 more
wiley   +1 more source

Innovation of plant‐derived extracellular vesicles and interdisciplinary research: From discovery to biomedical applications

BMEMat, EarlyView.
Plant‐derived extracellular vesicles offer numerous advantages and are regarded as highly promising candidates in the field of biomedicine. Abstract Extracellular vesicles (EVs) are double‐membrane vesicular structures that can be secreted by nearly all living cells.
Zilin Li, Yi Wei, Ben Hu, Yafang Song, Xiaojia Chen, Nik Ahmad Nizam Nik Malek, Tongkai Chen   +6 more
wiley   +1 more source

Clinical profile of pathological Jaundice among neonates admitted in the National Referral Hospital, Bhutan

Bhutan Health Journal, 2021
Introduction: Neonatal jaundice is a common condition especially in the first week of life. There are various maternal and neonatal clinical characteristics that have been associated with pathological jaundice.
Kinzang Dechen, Tenzin Lhadon, Mimi Lhamu Mynak, Phurpa Phurpa   +3 more
doaj   +1 more source

Body‐integrated photonic biosensors: Illuminating the path to active healthcare

FlexMat, EarlyView.
Body‐integrated photonic biosensors are promising tools for active healthcare. These optical devices can be worn, implanted, or swallowed to monitor health signals continuously. This review introduces key sensing modalities, including fluorescence, colorimetry, SPR, LSPR, SERS, and light‐modulating materials.
Jiayue Gu, Xingming Wen, Qihang Yan, Yining Zhao, Linghao Yuan, Siyuan Chen, Yue Ma, Zhengyue Fang, Dong Lei, Yuxin Liu, Ze Xiong   +10 more
wiley   +1 more source