Results 81 to 90 of about 548,578 (289)

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

Relationship between Lower Cervical and Upper Thoracic Spine in Temporomandibular Disorders

open access: yesJournal Riphah College of Rehabilitation Sciences
Background: Temporomandibular patients frequently feel discomfort in other areas as well. It is believed that temporomandibular dysfunction (TMD) is linked to whole body imbalance including lower cervical and upper thoracic spine.
Mishal Jamal   +5 more
doaj  

A computed tomography–based morphometric analysis of thoracic pedicles in a European population

open access: yesJournal of Orthopaedic Surgery and Research
Purpose The goal of this retrospective study was to perform a CT imaging assessment of thoracic pedicles to provide a representative understanding of pedicle morphology for pedicle-based fixation systems commonly used in orthopedics, trauma and ...
Alberto Alfieri Zellner   +7 more
doaj   +1 more source

The Thoracic Spine in the Overhead Athlete

open access: yes, 2020
Overhead athletes are susceptible to many injuries, particularly in the shoulder and lumbar spine. Due to the heterogeneity of these two regional injuries, it is difficult to pinpoint the exact origin.
Jeffrey Ruiz   +5 more
core   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness   +11 more
wiley   +1 more source

MRI Images of Cervical and Thoracic Spine.

open access: yes, 2014
A) 2009 MRI of the cervical spine showing recurrence in the surgical area. B) 2009 MRI of the thoracic spine showing progression of the main lesion measuring 23.9 mm, and the appearance of several other smaller lesions.
Krista L. Denning (619369)   +13 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto   +5 more
wiley   +1 more source

Sports Injuries of the Thoracic and Lumbar Spine

open access: yes, 2019
Reportedly, nine to fifteen percent of sports injuries affect the spinal column.1-3 The majority of these injuries are benign myofascial strains responding well to physical therapy without mid- or long-term impact on athletic performance.
Benneker, Lorin M., Albers, Christoph
core   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri   +5 more
wiley   +1 more source

Upper thoracic spine mobilization and mobility exercise versus upper cervical spine mobilization and stabilization exercise in individuals with forward head posture: a randomized clinical trial

open access: yesBMC Musculoskeletal Disorders, 2017
Background Although upper cervical and upper thoracic spine mobilization plus therapeutic exercises are common interventions for the management of forward head posture (FHP), no study has directly compared the effectiveness of cervical spine mobilization
Juchul Cho, Eunsang Lee, Seungwon Lee
doaj   +1 more source

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