Results 151 to 160 of about 55,673 (264)

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, Volume 200, Issue 5, Page 1156-1161, May 2026.
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

Assessment tools for neonatal resuscitation and their validity evidence: a scoping review. [PDF]

Resusc Plus
Steins M, Raaijmakers L, Hogeveen M, Binkhorst M.   +3 more
europepmc   +1 more source

Advancing Maternal Health with Long‐Acting Therapeutics: Priorities, Efficacy and Safety Considerations, and Emerging Technologies

Clinical Pharmacology &Therapeutics, Volume 119, Issue 5, Page 1179-1194, May 2026.
Maternal health remains a critical global concern, particularly in underserved populations and in low‐ and middle‐income countries where access to safe and effective therapeutics is limited. Despite the use of medications by most women during pregnancy, the exclusion of pregnant and lactating women from clinical trials has resulted in significant data ...
Rachel K. Scott, Sharon Nachman, Ethel D. Weld, Rachel Daley, Shakir Atoyebi, Robert Bies, Catriona Waitt, Adeniyi Olagunju   +7 more
wiley   +1 more source

In neonatal resuscitation, the ECG monitor informs. Ventilation saves. [PDF]

J Pediatr (Rio J)
Schmölzer GM.
europepmc   +1 more source

A novel case of autosomal recessive CARD11 loss‐of‐function underlying impaired antiviral immunity and a review of literature

Clinical &Translational Immunology, Volume 15, Issue 5, 2026.
We report on a patient homozygous for a novel autosomal recessive loss‐of‐function CARD11 variant, with susceptibility to live attenuated virus (LAV) vaccines and impaired clearance of multiple naturally acquired respiratory viral infections. Inborn errors of immunity affecting the CARD11‐BCL10‐MALT1 (CBM) complex should be considered in individuals ...
Hamish Anderson, Cecilia Verryt, Paula Keating, Thomas Saunders, Samuel Dalton, Barry D Hock, Liping Goddard, Kylie Drake, Anja Werno, John O'Donnell, Jeffrey R Stinson, Andrew L Snow, Kuang‐Chih Hsiao   +12 more
wiley   +1 more source

Preterm Birth Increases Susceptibility to Hyperglycemia‐Induced Kidney Injury With Sex‐Specific Differences in Structural and Molecular Responses

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 3, May 2026.
Preterm mice were delivered at 19 dpc and rendered diabetic with STZ at 6 weeks; kidneys were analysed at 18 weeks. PT‐D females showed increased atubular glomeruli, reduced proximal tubule fraction, higher albuminuria and BUN, and dysregulated fibrotic, vascular, mitochondrial, and Notch pathways.
Rachel K. Dailey, Aleksandra Cwiek, Logan C. Hamil, Sage Timberline, Ayyappa Kumar Sista Kameshwar, Masako Suzuki, Jaya Isaac, Kimberly deRonde, Mark Conaway, Kevin M. Bennett, Edwin J. Baldelomar, Matthew R. Hoch, Kimberly J. Reidy, Jennifer R. Charlton   +13 more
wiley   +1 more source

Improving team performance in neonatal resuscitation: a systematic review of training programs. [PDF]

Matern Health Neonatol Perinatol
Neethling J, Lubbe W, Scholtz S, Botha J.   +3 more
europepmc   +1 more source

Time to Death and Predictors of Mortality in Neonates Admitted to Tibebe Ghion Referral Hospital, Neonatal Intensive Care Unit in Northwest Ethiopia: A Retrospective Follow‐Up Study

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aims The first 28 days of life, the neonatal period, represent a phase of heightened vulnerability for infant survival globally. Despite advancements in medical interventions and increased healthcare access, a substantial number of newborns continue to succumb to preventable causes annually.
Gebiyaw Wudie Tsegaye, Maru Birhanu Addis, Kindie Fentahun Muchie   +2 more
wiley   +1 more source

Nationwide survey on neonatal resuscitation across delivery facilities in Japan. [PDF]

Pediatr Int
Tomita H, Sugiura T, Arahori H, Tamaru S, Enomoto K, Hirakawa E, Wada M, Kusakawa I, Isayama T, Kotani T, Hosono S.   +10 more
europepmc   +1 more source

Sentinel events in pediatric hepatology: A pilot simulation curriculum

JPGN Reports, Volume 7, Issue 2, Page 332-339, May 2026.
Abstract Objectives Sentinel hepatology events require robust prior experience to accurately diagnose and manage. Given the rarity of complex pediatric liver disease, gastroenterology (GI) fellows do not uniformly get exposure to these patients.
Anne Lyon, Alan Leichtner, Donna Luff, Scott Elisofon, Andrew Wehrman, Katherine Sweeny, Janet MacDonald, Christine K. Lee   +7 more
wiley   +1 more source