Results 241 to 250 of about 55,821 (302)

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

Movement Disorders, Volume 41, Issue 4, Page 889-900, April 2026.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar   +47 more
wiley   +1 more source

Neonatal hyperthyroidism with myocardial injury: a case report. [PDF]

Front Pediatr
Junhua T, Qiuyan J, Ranfeng L.
europepmc   +1 more source

Novel Variants in KMT2C Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Sedlackova et al. describe detailed phenotypes of three patients with novel variants in the KMT2C gene. After detailed phenotypic analysis, we found that our patients have phenotypes very similar to those previously described as KMT2C‐related Kleefstra syndrome 2, and thus further extend the list of KMT2C causal variants.
Lucie Sedláčková, Dana Šafka Brožková, Markéta Havlovicová, Petra Laššuthová   +3 more
wiley   +1 more source

Lipid Metabolism and Obesity in Early Life: Drivers of Chronic Lung Disease From Development to Adulthood

Molecular Nutrition &Food Research, Volume 70, Issue 7, 15 April 2026.
Metabolic and nutritional stressors are a growing global health concern. This review discusses how obesity, lipids, and lipid derivatives influence lung development, homeostasis, and chronic lung disease progression, highlighting roles of alveolar surfactant and sphingolipids.
Jaco Selle, Natascha Mierswa, Leon Saschin, Jana Niehues, Jörg Dötsch, Eva Nüsken, Kai‐Dietrich Nüsken, Julia Schipke, Miguel A. Alejandre Alcazar   +8 more
wiley   +1 more source

Neonatal respiratory care in Vietnam: surfactant use and clinical practices in a large neonatal intensive care unit. [PDF]

BMC Pediatr
Vu H, Larsson M, Nguyen LT, Tran TPT, Pham PTT, Nguyen TK, Olson L, Nguyen AD, Drevhammar T, Alfvén T, Pejovic NJ, Myrnerts Höök S.   +11 more
europepmc   +1 more source

The neonatal lung microbiome: a dynamic determinant of respiratory health, disease, and novel therapeutics. [PDF]

Front Pediatr
Zheng W, Liang Y, Li J.
europepmc   +1 more source

Combined diaphragm and lung ultrasound profiling in healthy full-term neonates: a study of early postnatal function. [PDF]

Eur J Pediatr
Koutras I, Chatziioannidis I, Kontou A, Pouliakis A, Sarafidis K.   +4 more
europepmc   +1 more source

Investigation of the Effectiveness of First Measured Arterial/Cord Blood Gas and Laboratory Results in Predicting the Treatment Model in Newborns Diagnosed With Transient Tachypnea. [PDF]

J Trop Med
Bulbul A, Bacak T, Tellioglu AY, Divarcı A, Avsar H.   +4 more
europepmc   +1 more source

Respiratory distress syndrome in preterm newborns: current recommendations

Archivos Argentinos de Pediatria
openaire   +2 more sources