Results 91 to 100 of about 58,544 (316)

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Neonatal Hypothermia and Associated Factors among Newborns Admitted in the Neonatal Intensive Care Unit of Dessie Referral Hospital, Amhara Region, Northeast Ethiopia [PDF]

, 2020
Yibeltal Asmamaw Yitayew, Endashaw Belayhun Aitaye, Helina Wondimu Lechissa, Lubaba Oumer Gebeyehu   +3 more
openalex   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

RECONSIDERING PATIENT SAFETY AT NEONATAL INTENSIVE CARE UNITS: A SYSTEMATIC REVIEW

Cogitare Enfermagem, 2016
The objective was to get to know adverse events and care practices for the purpose of patient safety at a Neonatal Intensive Care Unit. Systematic review using the following descriptors: Patient Safety; Intensive Care Units, Neonatal ...
Brendo Vitor Nogueira Sousa, Raquel Ribeiro Santana, Maiane Sousa dos Santos, Ellen Simone Vasconcelos Cipriano, Carla de Oliveira Brito, Elenilda Farias de Oliveira   +5 more
doaj   +1 more source

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

Advanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari, Yunhui Min, Eun‐Ju Ko, Doyoung Kwon, Rehan Khan, Young‐Ok Son   +5 more
wiley   +1 more source

Ontogenetic changes and sexual dimorphism in the cranium and mandible of the Atlantic walrus (Odobenus rosmarus rosmarus L.)

The Anatomical Record, EarlyView.
Abstract Walruses have been an important subsistence and cultural resource for humans and have been exploited for millennia across their distribution. This exploitation has contributed to severe declines in several populations and local extirpations.
Katrien Dierickx, Oliver Kersten, Youri van den Hurk, Brenna A. Frasier, Richard Sabin, Bastiaan Star, James H. Barrett   +6 more
wiley   +1 more source

Multi‐method analysis for the three‐dimensional reconstruction of muscle fascicles from DiceCT datasets

The Anatomical Record, EarlyView.
Abstract Muscle architecture is a major determinant of muscle performance and, in mammalian lineages, has been correlated with both feeding ecology and locomotor behaviors. Over the past decade, contrast‐enhanced micro‐CT (DiceCT) has emerged as an alternative to traditional dissection‐based measurement.
Aleksandra Ratkiewicz, Michael C. Granatosky, Cassidy E. Davis, Julia Molnar, Adam Hartstone‐Rose, Edwin Dickinson   +5 more
wiley   +1 more source

A systematic scoping review of metrics utilized to measure antibiotic consumption in hospital settings

British Journal of Clinical Pharmacology, EarlyView.
Abstract Antimicrobial stewardship (AMS) programs were introduced to promote the judicious use of antimicrobials and to combat antimicrobial resistance. Quantifying antibiotic consumption is an important part of AMS initiatives to achieve these objectives.
Marjan Kandimahforoujaki, Kiplin A. Patanwala, Jan‐Willem C. Alffenaar, Asad E. Patanwala   +3 more
wiley   +1 more source

Neonatal Sepsis and Its Associated Factors Among Neonates Admitted to Neonatal Intensive Care Units in Primary Hospitals in Central Gondar Zone, Northwest Ethiopia, 2019

Infection and Drug Resistance, 2020
Zelalem Agnche,1 Hedja Yenus Yeshita,2 Kedir Abdela Gonete3 1Amhara Regional State, Central Gondar Zone, West Dembia District, Kolladba Primary Hospital, Kolladba, Ethiopia; 2Department of Reproductive Health, Institute of Public Health, College of ...
Agnche Z, Yenus Yeshita H, Abdela Gonete K   +2 more
doaj