Results 71 to 80 of about 92,094 (359)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Integrated approach to the election of surgical method of treatment patients with patellofemoral arthritis (PFA) [PDF]

Гений oртопедии, 2019
Introduction Patellofemoral arthritis (PFA) began to be studied relatively recently. At present, there are no common approaches to the terminology, etiology and pathogenesis, as well as to the tactics of treating this disease.
Firas Main M. Said, Ildar F. Akhtiamov, Aleksei I. Kudryavtsev   +2 more
doaj   +1 more source

CHONDROMALACIA OF THE PATELLA [PDF]

The Journal of Bone and Joint Surgery. British volume, 1956
1. Chondromalacia, sometimes a precursor of osteoarthritis, is present in the articular cartilage of the patella of most people by the age of thirty; it causes symptoms in only a few, and it gives rise to osteoarthritis in fewer still. It may progress slowly or quickly but there is no clinical method of assessing the prognosis at an early stage.
P, WILES, P S, ANDREWS, M B, DEVAS
openaire   +2 more sources

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

The Response of a protandrous species to exploitation, and the implications for management: a case study with patellid limpets [PDF]

, 2005
A zygote production model for the patellid limpet Patella vulgata has been developed to examine the effect of exploitation on the reproductive output of a protandrous (male to female sequential) hermaphrodite.
Le Quesne, W.J.F.
core  

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Horizontal Intraarticular Dislocation of the Patella: Case Report [PDF]

Revista Brasileira de Ortopedia
Intraarticular dislocation of the patella is an uncommon condition, with displacement in the horizontal or vertical plane, which may be associated with total or partial lesion/rupture of the quadriceps tendon, with osteochondral or collateral ligament ...
Saulo Fouani de Miranda, Fabiano Kupczik, Marlus Eduardo Gunia Schiavon, Bruno Sbrissia, Gustavo Yuiti Kaneko Suzuki   +4 more
doaj   +4 more sources

FRACTURE OF PATELLA. [PDF]

JAMA: The Journal of the American Medical Association, 1899
Fractures of the patella are not of frequent occurrence; they constitute about 2 per cent, of all fractures, and are found more frequently in the male than in the female—in the proportion of about five to one. Fractures of this bone demand careful consideration, on account of its close proximity to the knee-joint, and also in consequence of the ...
openaire   +1 more source

Variable grouping patterns in primates: A test of the better competitor hypothesis in male Verreaux's sifaka (Propithecus verreauxi)

The Anatomical Record, EarlyView.
Abstract Intraspecific variation in social organization (IVSO) within primate populations can arise due to male mating competition. Verreaux's sifaka (Propithecus verreauxi) populations exhibit both single‐male and multi‐male groups, providing an opportunity to examine the relationship between male competitive ability and social organization.
Lemeng Li, Stacey R. Tecot, Rebecca J. Lewis   +2 more
wiley   +1 more source

Systemic Hormonal Contraceptive Use Is Associated With Greater Odds of Rotator Cuff Tears, Shoulder Instability, Dislocation, and Other Shoulder Pathologies: A Propensity Matched Epidemiological Study

Arthroscopy, EarlyView.
Purpose To evaluate whether systemic estrogen‐only, progestin‐only, or combined hormonal contraceptives (HCs) are associated with increased risk of shoulder pathologies in reproductive‐age females. Methods A retrospective cohort study of female patients presenting to clinic from 2013 to 2020 and aged 13‐50 with 5 years of follow‐up was conducted using ...
Argen Omurzakov, Arsen M. Omurzakov, Robert J. Burkhart, Aakash K. Shah, Rayyan Abid, James E. Voos, Jacob G. Calcei, John M. Apostolakos   +7 more
wiley   +1 more source