Results 61 to 70 of about 12,520 (220)

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, EarlyView.
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

Tratamento cirúrgico das lesões traumáticas do plexo braquial em adultos: uma visão geral [PDF]

, 2011
Traumatic injuries to the brachial plexus in adults are severely debilitating. They generally affect young individuals. A thorough understanding of the anatomy, clinical evaluation, imaging and electrodiagnostic assessments, treatment options and proper ...
MARTINS, Roberto S., SIQUEIRA, Mario G.
core   +2 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Functional outcome of dynamic orthosis in radial nerve palsy

Journal of Orthopaedic Reports
Background: Radial nerve is the most common injured nerve among all peripheral nerves. Damage to radial nerve can result in significant motor impairment of the arm and the wrist resulting in loss of wrist extension, the ability to grasp is significantly ...
Ali Benish, Sadaqat Ali
doaj   +1 more source

Iatrogenic Radial Nerve Palsy in the Management of Midshaft Humerus Fracture with Dynamic Compression Plate on Anterolateral versus Anteromedial Surface through Henry Approach [PDF]

Journal of Sharif Medical & Dental College, 2021
Objective: To compare the frequency of iatrogenic radial nerve palsy after the management of midshaft humerus fractures with dynamic compression plate on the anterolateral versus anteromedial surface through Henry approach.
Bilal Ahmad Abbas, Farooq Azam Khan, Talha Qureshi   +2 more
doaj  

A novel mouse model simulating C5 palsy after cervical surgery

Animal Models and Experimental Medicine, EarlyView.
This study establishes a reliable mouse model of permanent C5 palsy (post‐laminectomy complication) via dorsal approach, selectively severing the C5 anterior nerve root while preserving the posterior root through partial C4 and C5 laminectomy. The model successfully replicates clinical C5P features—flaccid shoulder paralysis, electrophysiological ...
Chenpei Xu, Xianghe Wang, Mingjie Zhou, Chuxiang Chen, Tingzheng Jiang, Fei Wang, Kaixiang Yang, Hongli Wang, Su Jiang   +8 more
wiley   +1 more source

One-year follow-up after treatment of proximal and/or middle one-third humeral shaft fractures with a helical plate: healing rates, complications and functional outcome measures

BMC Musculoskeletal Disorders, 2021
Background Conventional plate osteosynthesis is a valuable treatment option in displaced proximal and/or middle one-third humeral shaft fractures. Nonetheless, this procedure can be complicated by a radial nerve palsy.
V. Maes, G. Putzeys
doaj   +1 more source

Positional Relationship Between the Orbicularis Oculi and Zygomaticus Complex Muscles by Ultrasonography: New Anatomical Insights for Crow's Feet Injection

Clinical Anatomy, EarlyView.
ABSTRACT The orbicularis oculi muscle (OOc) is strongly associated with facial aging as its contraction causes the formation of crow's feet. Botulinum neurotoxin (BoNT) injection is a representative treatment targeting muscle. The aim of this study was to demonstrate the anatomical relationship between the OOc and the zygomaticus complex muscles, and ...
Jiong‐Zhen Piao, Ji‐Hyun Lee, Kyung‐Seok Hu, Hee‐Jin Kim   +3 more
wiley   +1 more source

Comparison of the Rate of Nerve Injury after Posterior and Anterior Approaches in Fractures of Proximal Half of Radius in Adults [PDF]

Journal of Kerman University of Medical Sciences, 2004
This clinical study was carried out to compare the rate of nerve complications after anterior and posterior approaches in forearm both bone fractures in adults.
A Salari
doaj  

Segmental Hair Analysis of Diphenhydramine and Cyclizine Following a Single Dose

Drug Testing and Analysis, EarlyView.
A single oral dose of diphenhydramine and cyclizine can be quantified in human head hair for a minimum of 5 months and, in certain cases, for up to 1 year following intake. Among 12 study participants, the measured concentrations ranged from 0 to 610 pg/mg within 1 year post‐intake.
Jan Bílek, Marie Katrine Klose Nielsen, Robert Kronstrand, Sys Stybe Johansen   +3 more
wiley   +1 more source