Results 131 to 140 of about 2,377,544 (376)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao   +34 more
wiley   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs   +8 more
wiley   +1 more source

Claustrum Volume Is Reduced in Multiple Sclerosis and Predicts Disability

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The claustrum is a small, thin structure of predominantly gray matter with broad connectivity and enigmatic function. Little is known regarding the impact of claustrum pathology in multiple sclerosis (MS). Methods This study assessed whether claustrum volume was reduced in MS and whether reductions were associated with specific ...
Nicole Shelley   +5 more
wiley   +1 more source

Diagnosis and Management of Diabetic Foot Complications

open access: yesDiabetes, 2018
| At least half of all amputations occur in people with diabetes, most commonly because of an infected diabetic foot ulcer. A thorough understanding of the causes and management of diabetic foot ulceration is essential to reducing lower-extremity ...
A. Boulton   +7 more
semanticscholar   +1 more source

Correspondence of MRI and nTMS With EDSS in Multiple Sclerosis: Longitudinal Follow‐Up Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Considering the characteristics of multiple sclerosis (MS) disease and its impact on motor disability, this study aims to assess the functional integrity of the corticospinal tract by examining motor evoked potentials (MEPs), Expanded Disability Status Scale (EDSS) scores, magnetic resonance imaging (MRI) lesion counts, and ...
Antonia Bralić   +13 more
wiley   +1 more source

Most Readmissions Following Ankle Fracture Surgery Are Unrelated to Surgical Site Issues

open access: yesFoot & Ankle Orthopaedics, 2017
Background: Ankle fracture surgeries are generally safe and effective procedures; however, as quality-based reimbursement models are increasingly affected by postoperative readmission, we aimed to determine the causes and risk factors for readmission ...
Michael C. Fu MD, MHS   +5 more
doaj   +1 more source

The current burden of diabetic foot disease.

open access: yesJournal of Clinical Orthopaedics and Trauma, 2021
M. Edmonds, C. Manu, Prashanth R. J. Vas
semanticscholar   +1 more source

The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Determine the association between diabetes and metabolic syndrome (MetS) burden (number of MetS criteria fulfilled) and pain, neuropathy severity, and fiber type involvement in individuals with established polyneuropathy. Methods The Peripheral Neuropathy Research Registry was queried for individuals with type 1 and type 2 diabetes ...
Long Davalos   +13 more
wiley   +1 more source

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