Results 21 to 30 of about 1,086 (157)

Congenital Proximal Radioulnar Synostosis in an Elite Athlete–Case Report [PDF]

Medicina (Lithuania), 2023
Ivan Varga, Boris Steno, Robert Petrović   +2 more
exaly   +2 more sources

Congenital Radioulnar Synostosis

Journal of the American Academy of Orthopaedic Surgeons, 2021
Congenital radioulnar synostosis is a rare condition resulting in fusion of the proximal portions of the radius and ulna. Patients commonly present in early childhood with functional deficits because of limited forearm rotation and fixed positioning of the forearm. Compensatory motion and hypermobility are frequently observed at the wrist and shoulder,
Paul T. Rutkowski, Julie Balch Samora
  +5 more sources

Congenital radioulnar synostosis: is prenatal diagnosis possible? - A case report

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objectives: The main objectives of this case report are to discuss prenatal ultrasound findings of congenital radioulnar synostosis and to review the literature.
Yi-Ying Li, Ksenia Olisova, Yen-Ni Chen, Chia-Hsieh Chang, Tung-Yao Chang   +4 more
doaj   +1 more source

A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects

Medicina, 2023
Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her
Ruta Kalinauskiene, Deimante Brazdziunaite, Neringa Burokiene, Vaidas Dirsė, Ausra Morkuniene, Algirdas Utkus, Egle Preiksaitiene   +6 more
doaj   +1 more source

Improving the Accuracy of Corrective Osteotomy for Congenital Radio Ulnar Synostosis using the Axis of Rotation of the Forearm as a Guide [PDF]

Malaysian Orthopaedic Journal, 2023
Introduction: Despite several techniques for corrective osteotomy in congenital radioulnar synostosis (CRUS) the published literature lacks a guide for radiographic planning and rationale for the site and level of the osteotomy.
Gandhi S, Dalei TR, Nema SK, Rathod A, agadevan M   +4 more
doaj   +1 more source

Clinical heterogeneity of polish patients with KAT6B–related disorder

Molecular Genetics &Genomic Medicine, Volume 11, Issue 12, December 2023., 2023
We present a detailed phenotypic analysis of six individuals with KAT6B‐related disorders, in whom a heterozygous pathogenic variant in KAT6B gene was found. We report six SBBYS syndrome patients with the same dysmorphic features but a different course of the disease.
Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert   +13 more
wiley   +1 more source

A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure

British Journal of Haematology, Volume 203, Issue 5, Page 852-859, December 2023., 2023
MECOM gene encodes for EVI1, a transcription factor involved in hematopoietic stem cells (HSCs) renewal and maintenance, whose mutations causes MECOM‐associated syndrome (MECOM‐AS). It was recently demonstrated that mutations of EVI1 result in impaired self‐renewal of LT‐HSCs. Functional studies of a novel missense mutation allowed us to provide a link
Daniele Ammeti, Antonio Marzollo, Maria Gabelli, Melania Eva Zanchetta, Caterina Tretti‐Parenzan, Roberta Bottega, Valeria Capaci, Alessandra Biffi, Anna Savoia, Silvia Bresolin, Michela Faleschini   +10 more
wiley   +1 more source

Two cases of skeletal fluorosis from the historic cemetery at Zhangwan, Henan Province, China

International Journal of Osteoarchaeology, Volume 33, Issue 6, Page 1052-1063, November/December 2023., 2023
Abstract Skeletal fluorosis is a systemic chronic disease caused by long‐term intake of excessive fluoride, which accumulates in bone tissue and causes changes to the bone and periosteal tissue. Skeletal fluorosis is rarely considered in paleopathological analyses, but in areas with relatively high fluoride in the environment, it may be an important ...
Yawei Zhou, Kailu Liu, Fei Yan, Elizabeth Berger   +3 more
wiley   +1 more source

Painful Locking Elbow in a Child with Congenital Proximal Radioulnar Synostosis

Journal of Hand Surgery Global Online, 2019
Painful snapping or locking in the elbow is an uncommon presentation that has been observed in children with proximal radioulnar synostosis. Only a few cases have been reported in the English language literature.
Nezar B. Hamdi, MD, SBOS, Abdulmuhsen N. Alshammari, MBBS, SBOS, Abdullah Y. Almarshad, MBBS, Faisal M. AlFayyadh, MBBS   +3 more
doaj   +1 more source

Single‐Incision Distal Biceps Tendon Repair With Bicortical Tensionable Locking Button Fixation

Arthroscopy Techniques, Volume 12, Issue 11, Page e2063-e2069, November 2023., 2023
Abstract Acute, traumatic distal biceps tendon injuries are common among the middle‐aged athletic male population. Surgical repair of distal biceps tendon remains the most effective means to restore maximal strength of forearm supination and elbow flexion with relief of antecubital pain.
Zeeshan A. Khan, Benjamin Kerzner, Garrett R. Jackson, Harkirat S. Jawanda, Johnathon R. McCormick, Christopher M. Brusalis, Jimmy J. Chan, Daniel J. Kaplan, Nikhil N. Verma   +8 more
wiley   +1 more source