Results 171 to 180 of about 2,781,607 (301)

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

Surgical Treatment of Chest Deformity in a Patient with Poland Syndrome. Clinical Case Report

International Medical Case Reports Journal
Ablaikhan Kazbekov,1,2 Olzhas Bekarisov,1 Kairat Tazhin1 1National Scientific Center for Traumatology and Orthopedics Named After Academician N.D. Batpenov, Ministry of Health of the Republic of Kazakhstan, Astana, Kazakhstan; 2Astana Medical University,
Kazbekov A, Bekarisov O, Tazhin K
doaj  

Amniotic Band Syndrome With Congenital Absence of the Nose and Upper Lip: A Dental Anesthesia Challenge-A Case Report. [PDF]

Spec Care Dentist
Aulakh K, Kareem MAA, Cuddy M, McKenzie C, Taiclet L, Abukabbos H.   +5 more
europepmc   +1 more source

Machine Learning‐Based Risk Stratification Tool for Hearing Loss in High‐Risk Neonates

The Laryngoscope, Volume 136, Issue 11, Page 4755-4764, November 2026.
Machine learning models, particularly XGBoost, provide robust risk stratification for neonatal hearing loss by capturing complex interactions among clinical risk factors such as NICU stay duration and family history. To translate these predictive capabilities into routine practice, an open‐access web‐based clinical decision support tool was developed ...
Sevgi Kutlu, Emre Söylemez, Betül Temir, Esranur Ulusoy, Zahide Çiler Büyükatalay   +4 more
wiley   +1 more source

Morquio syndrome masquerading as juvenile idiopathic Arthritis: A case report. [PDF]

Radiol Case Rep
Kadiri ZA, El Binoune I, Amine B, Kabbaj A, Zemrani S, Rostom S, Rachid B.   +6 more
europepmc   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, Volume 110, Issue 5, Page 584-589, November 2026.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Little Fingers, Big Problems: Understanding Pediatric Trigger Fingers. [PDF]

Cureus
Stanley OC, Kern E, Fisher O, Schwartz G.   +3 more
europepmc   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

A Unique Presentation of Bilateral Sprengel's Deformity with a Horseshoe Configuration of Connected Omovertebral Bony Bars. [PDF]

J Clin Med
Alsiddiky A, Alshaalan HS, Alghadir T, Alshatwi RA.   +3 more
europepmc   +1 more source

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, Volume 110, Issue 5, Page 605-615, November 2026.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source