Results 151 to 160 of about 54,673 (271)

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

Real‐Time Targeted Slice Reacquisition for Motion‐Corrupted Fetal Diffusion MRI

Magnetic Resonance in Medicine, Volume 96, Issue 5, Page 2140-2151, November 2026.
ABSTRACT Purpose To develop and evaluate a real‐time framework for targeted slice‐level reacquisition in fetal diffusion MRI. Methods A DW‐SE‐EPI sequence was modified to support independent diffusion preparation per slice. A pathology‐robust nnU‐Net segmentation network, updated from a previously published baseline (V1) using pathological fetal cases ...
Jordina Aviles Verdera, Sara Neves Silva, Susanne Schulz‐Heise, Sarah McElroy, Mary Rutherford, Joseph V. Hajnal, Raphael Tomi‐Tricot, Jana Hutter   +7 more
wiley   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, Volume 175, Issue 5, Page 965-976, November 2026.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis

Otolaryngology–Head and Neck Surgery, Volume 175, Issue 5, Page 991-1004, November 2026.
Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron, Massil Badji, Camille Prigent, Alix Pincivy, Erika Mercier, Mathieu Bergeron   +5 more
wiley   +1 more source

Gastroschisis‐Like Defect in a Crossbred Bovine Calf: Anatomical, Clinical and Surgical Perspectives

Veterinary Medicine and Science, Volume 12, Issue 6, November 2026.
A gastroschisis‐like defect was observed in a one‐day‐old, crossbred bovine calf with evisceration of the pyloric abomasum and small intestine, likely resulting from prenatal rupture of an omphalocele. The calf presented with lethargy, hypothermia and metabolic derangements, along with elevated renal biomarkers.
Mohammad Raguib Munif, Tanjin Tamanna Mumu   +1 more
wiley   +1 more source

No Evidence of Sexual Dimorphism in Third Molar Agenesis Patterns: A Cross-Sectional Study of Orthodontic Patients. [PDF]

Dent J (Basel)
Ortner NS, Schnegelsberg PA, Proff P, Beisel-Memmert S, Küchler EC, Kirschneck C.   +5 more
europepmc   +1 more source

Anatomical–Motor Level Discrepancy in Prenatal Diagnosis of Open Spinal Dysraphism: A 12‐Year Retrospective Observational Study

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 12, Page 2188-2195, November 2026.
ABSTRACT Objectives To quantify the discrepancy between anatomical and motor levels in foetuses with open spinal dysraphism and identify prenatal factors associated with this difference. We also examined associations between anatomical level and ultrasound findings. Design Retrospective observational study.
Silvia Arévalo, Elena Moreno, Mar Meléndez, Carlos Giné, Carlota Rodó, Alba Casellas, Alba Farràs, Manel Mendoza, Nerea Maiz   +8 more
wiley   +1 more source

Appendiceal agenesis in a 3-year-old boy presenting with suspected acute appendicitis: a case report. [PDF]

Front Pediatr
Yang X, Wang L, Zhang D, Yang X.
europepmc   +1 more source

Multiple cardiac malformations in a calf

Australian Veterinary Journal, Volume 104, Issue 11, Page 777-781, November 2026.
This paper describes the morphopathological aspects of a case of multiple cardiac malformations in a calf. A two‐day‐old male calf of undefined breed was born with an ectopic heart, presenting with dyspnoea and in lateral recumbency. The owner had repositioned the exposed heart beneath the adjacent skin, which was suclosed, without additional incisions
LA Soares, IC Matias, DRS Garcia, HS Oliveira Filho, SM Figueiredo, GX Medeiros, LÂ Maia, GJN de Galiza   +7 more
wiley   +1 more source

Clinical Characteristics of End-Organ Failure as a Cause of Primary Amenorrhea: Multicenter Study in Korean Population. [PDF]

J Korean Med Sci
Chung YS, Yun BH, Kim HJ, Lee MH, Kim H, Lee DY, Lee SR, Kim M, Cho HH, Kang BM.   +9 more
europepmc   +1 more source