Results 171 to 180 of about 55,821 (302)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

An Unusual Case of Situs Inversus in a Premature Neonate. [PDF]

Cureus
Elazar N, Castronovo MG, Spencer-Morales EM.   +2 more
europepmc   +1 more source

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

An algorithm to identify less invasive surfactant administration using a real-world database of preterm infants. [PDF]

PLoS One
Sun X, Simpson AN, Lahiri A, Mowla S, Edelman D, Corman S, Fuentes D, Kurepa D, Kuzniewicz MW.   +8 more
europepmc   +1 more source

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP): A Comprehensive Review of Types, Pathophysiology, and Treatment Approaches

Brain and Behavior, Volume 16, Issue 5, May 2026.
Chronic inflammatory demyelinating polyneuropathy is an autoimmune disorder causing demyelination, leading to distal weakness, sensory loss, and autonomic dysfunction. Immune activation triggers macrophage‐mediated myelin damage and conduction failure.
Ayesha Khan, Arsal Khan, Kuldeep Dalpat Rai, Anzel Saeed, Harsh Kumar, Aneesh Kumar Sangtiani, Tehreem Fatima, Muhammad Tanveer Alam, Faiza Rajput, Sakshi Chawla, Hussain Haider Shah, Humaira Kalam   +11 more
wiley   +1 more source

Very rare combination of Pierre Robin sequence with patent ductus arteriosus, severe persistent pulmonary hypertension, and sepsis in an Afghan neonate: a case report and literature review. [PDF]

Oxf Med Case Reports
Aslamzai M, Hakimi T, Mukhlis AH, Mansoori EA.   +3 more
europepmc   +1 more source

The respiratory distress syndrome of the newborn

South African Journal of Obstetrics and Gynaecology, 2019
Click on the link to view.
openaire   +2 more sources

Video Demonstration of ABCA12‐Related Harlequin Ichthyosis in a Low‐Resource Setting: Case Report and Review of Early Management Challenges

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention, and intensive skin care—are crucial determinants of survival, especially in low‐resource ...
Chukwuka Elendu, Dependable C. Amaechi, Tochi C. Elendu, Emmanuel C. Amaechi, Ijeoma D. Elendu, Emeka H. Okolo, Mbanefo C. Uyanwune   +6 more
wiley   +1 more source

Higher PEEP reduces duration of mechanical ventilation in neonatal respiratory distress syndrome of late preterm and term newborn infants. [PDF]

Sci Rep
Ning T, Xue Q, Wang P, Zhang X, Shan X, Yang L, Yuan M, Dong C, Liu S, Zhu S, Yan H.   +10 more
europepmc   +1 more source

Therapeutic Update in Neonatal Opioid Withdrawal Syndrome: Comparative Effectiveness of Pharmacological Treatments and the ESC Assessment Model. A Systematic Review. [PDF]

Health Sci Rep
ABSTRACT The number of newborns with neonatal opioid withdrawal syndrome is alarming, due to the increase in maternal opioid use. Despite the critical health and socio‐economic impact, a precise clinical and therapeutic approach for opioid using infants and mothers remains undefined.
Pérez-Jiménez JM, Langa MP, Jimenez MC.   +2 more
europepmc   +2 more sources