Results 171 to 180 of about 55,142 (263)

Risk factors of respiratory distress among newborns admitted to the neonatal intensive care unit at public hospitals of addis ababa, Ethiopia. unmatched case-control study. [PDF]

BMC Pediatr
Shitie TB, Bekele DM, Ashagrie FM, Kebede TN.   +3 more
europepmc   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Phocomelia: Bilateral limb deficiency in a neonate: A case report. [PDF]

World J Clin Pediatr
Omullo FP, Shahabi K, Kitheghe TK, Mutuku B, Simiyu BW.   +4 more
europepmc   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Breathe easy, baby, breathe. Lung ultrasound in neonatal critical care. [PDF]

Front Pediatr
Jagła M, Grudzień A, Tomasik T, Wroński M, Kwinta P.   +4 more
europepmc   +1 more source

A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Harlequin Ichthyosis (HI) is an extremely rare, autosomal recessive, and highly fatal condition in neonates. It is especially difficult to control in the low‐ and middle‐income countries (LMICs) due to the low rate of prenatal screening, cultural reluctance, and lack of access to neonatal intensive care.
Muhammad Zaeem, Ameer Hamza Mehmood Ul Hassan, Muhammad Hassaan Javaid, Muhammad Usman, Muhammad Ahmed, Muhammad Usama Naveed, Mohammad Yassin Al Aboud   +6 more
wiley   +1 more source

Improvised bubble continuous positive airway pressure (BCPAP) device at the National Hospital Abuja gives immediate improvement in respiratory rate and oxygenation in neonates with respiratory distress

Nigerian Journal of Paediatrics
Background: Prematurity accounts for 25% of Neonatal mortality in Nigeria and Respiratory Distress Syndrome is responsible for half of these deaths. Introducing continuous positive airway pressure for the treatment of RDS in Nigeria where health care ...
Audu LI, Otuneye AT , Mairami AB , Mukhtar MY   +3 more
doaj  

Neonatal meconium aspiration syndrome with transient Hyperreactive airways and socioeconomic challenges: a case report. [PDF]

Oxf Med Case Reports
Diaz Q C, Orellana M, Argueta A, Chajon P.   +3 more
europepmc   +1 more source

Is amnioinfusion for intrapartum variable decelerations effective? Evaluation of the total deceleration area: A retrospective cohort study

International Journal of Gynecology &Obstetrics, Volume 171, Issue 2, Page 789-797, November 2025.
Abstract Objective Data regarding the efficiency of amnioinfusion in the presence of recurrent variable decelerations (VD) are limited. Total deceleration area (TDA) has been shown to be a useful indicator of both intrapartum fetal acid–base status and neonatal morbidity.
Gal Cohen, Nofar Bar Noy‐Traub, Hanoch Schreiber, Tal Biron‐Shental, Hila Shalev‐Ram, Michal Kovo, Dorit Ravid   +6 more
wiley   +1 more source