Results 81 to 90 of about 625,257 (333)

Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia

open access: yesAnnals of Neurology, EarlyView.
SCN3B encodes the β3 auxiliary subunit, essential for voltage‐gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a genotype‐first approach, we identified homozygous truncating variants (c.281G>A‐β3W94*, c.584 + 1G>A ...
Nathan Routledge   +11 more
wiley   +1 more source

Distal femoral morphology as a risk factor for osteoarthritis

open access: yesThe Anatomical Record, EarlyView.
Abstract Osteoarthritis (OA) is a leading cause of disability affecting millions of adults in the United States, commonly resulting in the need for total knee arthroplasty (TKA) to restore mobility and quality of life. This study investigates potential differences in baseline distal femoral shape between individuals who received TKA due to OA and a ...
Haley Horbaly
wiley   +1 more source

How to prevent dislocation after revision total hip arthroplasty: a systematic review of the risk factors and a focus on treatment options

open access: yesJournal of Orthopaedics and Traumatology, 2018
BackgroundDislocation represents the most common complication after revision total hip arthroplasty (rTHA). Understanding risk factors for dislocation has a great clinical relevance for every hip surgeon in order to consider all surgical options for ...
C. Faldini   +8 more
semanticscholar   +1 more source

Morphology of the sternoclavicular joint and its microanatomical changes in response to osteoarthritic degeneration

open access: yesClinical Anatomy, EarlyView.
Abstract Although the sternoclavicular joint shares structural similarities with the knee and hip joints as a diarthrodial joint, its biomechanics differ significantly due to its non‐weight‐bearing nature. Nevertheless, it is subject to considerable loading, leading to increased susceptibility to osteoarthritis, a prevalent condition characterized by ...
Sophie Mok   +4 more
wiley   +1 more source

The Development of the Human Female Reproductive Tract: Part 2—Vagina

open access: yesClinical Anatomy, EarlyView.
ABSTRACT Urogenital epithelium replaces the original paramesonephric (Müllerian) epithelium in the human fetal vagina. We re‐investigated this cell replacement histologically and with three‐dimensional reconstructions. In the lesser pelvis, both Müllerian ducts fuse to form the uterovaginal canal.
Cindy J. M. Hülsman   +4 more
wiley   +1 more source

Advances in radiopharmaceuticals for cancer radiotheranostics: CCK2R targeting as a paradigm for translational innovation

open access: yesCancer Communications, EarlyView.
Abstract Radiopharmaceuticals are reshaping the landscape of cancer therapy, offering a unique theranostic advantage that is becoming increasingly central to precision medicine. By labeling the same molecular scaffold with different radionuclides, these agents enable seamless integration of diagnostic imaging and targeted therapy.
Jing Li   +6 more
wiley   +1 more source

Traumatic posterior hip dislocation in a 16-month-old child: a case report and review of literature

open access: yesChinese Journal of Traumatology, 2012
【Abstract】 Traumatic posterior hip dislocation is an uncommon injury in children, constituting less than 5% of paediatric dislocations. In a younger child (<5 years), minor trauma such as a slip or fall from a low height may cause a hip ...
Meena Sanjay   +3 more
doaj  

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki   +6 more
wiley   +1 more source

Surgical dislocation of the hip without trochanteric osteotomy

open access: yesJournal of Orthopaedic Surgery, 2017
Background: Surgical dislocation of the hip remains an important alternative in hip preservation surgery, especially when a dynamic access to the hip is needed and arthroscopy is not a suitable option.
Daniel Schweitzer   +4 more
doaj   +1 more source

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