Results 71 to 80 of about 88,544 (211)

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

Case of Monostotic Fibrous Dysplasia in the hand [PDF]

, 2002
A case of monostotic fibrous dysplasia in the proximal phalanx of an otherwise healthy, twenty-five year old is discussed. Fibrous dysplasia in the hand is rarely seen. Our patient presented with a swelling in his proximal phalanx.
Sciberras, Carmel, Zammit, Jason, Attard, Gerhardt   +2 more
core  

Acetabular dysplasia in normal Turkish adults

, 2000
The aim of this investigation was to examine normal hip joint morphometry and the acetabular dysplasia rate in Turkish adults. Center-edge angle, acetabular angle, acetabular depth, acetabular roof obliquity, and roof angle were measured in standardized ...
Ercan S., Pekindil G., Aktas S., Pekindil Y.   +3 more
core   +1 more source

BORDERLINE ACETABULAR DYSPLASIA: INDEPENDENT PREDICTORS OF HIP INSTABILITY VERSUS IMPINGEMENT

Orthopaedic Journal of Sports Medicine, 2019
Background: Hips with borderline acetabular dysplasia (lateral center-edge angle, LCEA, between 20° and 25°) are challenging in terms of diagnostic and treatment decision-making.
Jeffrey J. Nepple MD, Elizabeth A. Graesser BS, Joel Wells MD, John Clohisy   +3 more
doaj   +1 more source

Arthroscopic Management for Acetabular Rim Stress Fracture and Osteochondritis Dissecans in the Athlete With Hip Dysplasia

Arthroscopy Techniques, 2018
Intra-articular lesions are common in patients with acetabular hip dysplasia. Rim stress fractures (RSFs) have also been described in patients with acetabular hip dysplasia.
Soshi Uchida, M.D., Ph.D., Yuki Shimizu, M.D., Ph.D., Yohei Yukizawa, M.D., Ph.D., Hitoshi Suzuki, M.D., Ph.D., Cecilia Pascual-Garrido, M.D., Akinori Sakai, M.D., Ph.D.   +5 more
doaj   +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

Exploring the range of motion between the acetabular component and the femoral component in hip resurfacing [PDF]

, 2012
Includes abstract.Includes bibliographical references.Accurate placement of the femoral and acetabular components is crucial to retain the natural hip Range of Motion (RoM) in hip resurfacing, as well as prevent accelerated wear and subsequent premature ...
Mudd, Richard William
core   +1 more source

Biomechanical analysis of load distribution in porcine hip joints at different acetabular coverages

BMC Musculoskeletal Disorders
Background Developmental dysplasia of the hip causes secondary osteoarthritis. Finite element analysis suggests high hip joint contact pressure in patients with hip dysplasia and a reduction in contact pressure after periacetabular osteotomy.
Tetsuya Tachibana, Hiroki Katagiri, Junpei Matsuda, Nobutake Ozeki, Toshifumi Watanabe, Ichiro Sekiya, Tetsuya Jinno   +6 more
doaj   +1 more source

Comparing the Pemberton osteotomy and modified San Diego acetabuloplasty in developmental dysplasia of the hip

Journal of Children's Orthopaedics, 2019
Purpose Patients with developmental dysplasia of the hip (DDH) may require a pelvic osteotomy to treat acetabular dysplasia. The Pemberton osteotomy and modified San Diego acetabuloplasty are two options available when surgically treating DDH.
R. Badrinath, J. D. Bomar, D. R. Wenger, S. J. Mubarak, V. V. Upasani   +4 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source