Results 161 to 170 of about 54,392 (259)

Teratogenic Effects and Outcomes of Congenital Oropouche Virus Infection: Current Evidence, Pathophysiological Mechanisms, and Research Priorities. [PDF]

Viruses
Pomar L, Epelboin L, Hcini N.
europepmc   +1 more source

A Rare Constellation of Omphalocele, Myelomeningocele, and Encephalocele in a Neonate Born to a Mother With Type 2 Diabetes Mellitus: A Case Report

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT Pre‐gestational diabetes with reported poor glycemic control may be associated with rare and severe multiple congenital anomalies, such as omphalocele and multiple concurrent neural tube defects (NTDs). Early antenatal screening, strict maternal glycemic control, and multidisciplinary neonatal management are crucial to improving outcomes.
Jaber Hamad Jaber Amin, Nabiah Shakeel, Amjed Siddig Khalid Mohammed, Rayan Mohammed, Ahmed Moawia Basher Omer, Amna Magzoob Mahgoob   +5 more
wiley   +1 more source

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I. [PDF]

Prenat Diagn
Liebmann A, Richter T, Krstić N, Hoopmann M, Kagan KO, Menig-Benzig LS, Olivieri S, Riess O, Dufke A.   +8 more
europepmc   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

EEF1D-Associated Neurodevelopmental Disorders: Evidence From Iranian Siblings With a Biallelic Splice Junction Loss Variant. [PDF]

Mol Genet Genomic Med
Ganji M, Kaki A, Mohammadi MF, Behroozi J, Kahani SM, Rezaei B, Fayazi A, Mohammadi P, Bereshneh AH, Garshasbi M.   +9 more
europepmc   +1 more source

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) facilitate the loading of transfer RNAs with their cognate amino acids in the cytosol (ARS1), mitochondria (ARS2), or both (dual ARS). ARS deficiencies are clinically heterogeneous and can cause severe, occasionally fatal disease.
I. J. J. Muffels, G. Kok, Z. Tang, L. S. Medeiros, F. O. Poswar, W. P. Vermeij, R. Rodenburg, K. Smit, S. K. Sukumaran, S. B. Wortmann, L. Averdunk, J. Munch, J. Pak‐lam Ho, A. M. K. Kwok, E. E. S. Nieuwenhuis, P. M. van Hasselt, I. V. D. Schwartz, C. M. A. Lubout, A. M. Bosch, K. Koop, E. M. M. Hoytema van Konijnenburg, S. A. Fuchs   +21 more
wiley   +1 more source

Congenital Cytomegalovirus Testing Following Pennsylvania Hearing-Targeted Screening Legislation. [PDF]

Hosp Pediatr
Coggins SA, Garber SJ, Christ LA, Drinker LR, Mukhopadhyay S, Puopolo KM.   +5 more
europepmc   +1 more source

Fatty Acid Oxidation Disorders Detected by Newborn Screening: Clinical, Biochemical and Genetic Spectrum in a Single‐Center Cohort

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Newborn screening (NBS) has significantly improved early detection and survival in fatty acid oxidation disorders (FAODs). However, the expanding phenotypic spectrum challenges prognostic stratification, and long‐term morbidity remains incompletely characterized.
Elena Martín‐Hernández, Delia Barrio‐Carreras, María Martín‐Cazaña, Luis Miguel García‐Cárdaba, Carmen Martín‐Fernández, Patricia Pérez‐Mohand, Teresa Hernández Chamorro, Berta Zamora Crespo, Pedro Ruiz‐Sala, Patricia Alcaide Alonso, Pilar Quijada‐Fraile   +10 more
wiley   +1 more source

Mapping the Evidence for Oropouche Virus to Inform Research Prioritisation

Reviews in Medical Virology, Volume 36, Issue 6, November 2026.
ABSTRACT Oropouche virus (OROV) infection has gained increasing public health attention due to the ongoing outbreaks in South and Central America. The World Health Organisation (WHO) lists OROV as a priority pathogen for epidemic and pandemic preparedness.
Sowsan F. Atabani, Matthew Bosworth, Amy Bobbins, Beti Evans, Zalaya Simmons, Nicola Pearce‐Smith, Julia A. Tree, Charles Dearman, Yper Hall, Daphne Duval   +9 more
wiley   +1 more source

Integrated Reproductive and Cytogenetic Assessment of Infertility in a Captive Jaguar (Panthera onca)

Veterinary Medicine and Science, Volume 12, Issue 6, November 2026.
Integrated reproductive and cytogenetic assessment of infertility in a captive jaguar pair identified normal chromosomal status in both individuals, whereas impaired semen quality in the male likely represents a major limiting factor for reproductive success under the observed conditions.
Marie Altmanová, Julie Strand, Kathrine Thejll Kirchhoff, Zuzana Majtánová   +3 more
wiley   +1 more source