Results 151 to 160 of about 329,564 (231)

Prevalence and Risk Factors for Acetabular Rim Irregularities in Infants with Hip Dysplasia: A Cohort Study. [PDF]

J Clin Med
Pallamar M, Scheider P, Weiß C, Spalt F, Borchert GH, Chiari C.   +5 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

Diagnostic Yield of Genetic Disorders in Children with Hip Dysplasia Mimicking Bilateral Legg-Calvé-Perthes Disease. [PDF]

Diagnostics (Basel)
Tüysüz B, Güneş N, Yıldırım T, Karakaş H, Kasap B, Onur H, Uludağ Alkaya D, Şahin S, Orak MM, Zorer G, Kuruğoğlu S, Kasapçopur Ö.   +11 more
europepmc   +1 more source

Intrahousehold aggression in two dogs with pain experience as the primary motivational factor of the dogs’ aggressive behaviours

Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.
Abstract We present two cases of intrahousehold aggression in dogs experiencing undiagnosed physical discomfort, including pain. Pain was expected to be a motivational factor, as a physical issue marked the start of the aggression and as not all stimuli were related to the dogs’ direct external environment, pointing at possible internal stimuli. Victim‐
I. R. van Herwijnen, S. M. A. Gardeweg, C. M. Vinke, P. Schulte, D. Hartman   +4 more
wiley   +1 more source

Diagnosis and management of developmental dysplasia of the hip from triradiate closure through young adulthood

, 2014
The current treatment of painful hip dysplasia in the mature skeleton is based on acetabular reorientation. Reorientation procedures attempt to optimize the anatomic position of the hyaline cartilage of the femoral head and acetabulum in regard to ...
Steppacher, Simon Damian, Haefeli, Pascal, Albers, Christoph, Tannast, Moritz, Siebenrock, Klaus-Arno   +4 more
core  

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

Factors associated with symptom development in bilateral hip dysplasia with comparable acetabular coverage. [PDF]

Int Orthop
Funahashi H, Osawa Y, Ido H, Asamoto T, Takegami Y, Imagama S.   +5 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

The Impact of Earthquake-Induced Healthcare Disruption on an Established Developmental Hip Dysplasia Screening Program in an Earthquake Zone. [PDF]

Children (Basel)
Aslantürk O, Çabuk SN, Ergen E, Özdeş HU, Al F, Sarıbas T, Kılıç M, Ertem H, Karakaplan M, Demiröz Taşolar S, Ayvaz H, Kıvrak A, Bekmez Ş.   +12 more
europepmc   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source