Results 71 to 80 of about 314,455 (204)

Cervical Inlet Patches in R‐CPD: An Unrecognized Predictor of Treatment Failure

open access: yesThe Laryngoscope, EarlyView.
This retrospective cohort study identified cervical inlet patches (CIP) in 19.8% of patients undergoing cricopharyngeal botulinum toxin injection for R‐CPD. CIP presence and increasing age independently predicted failure to sustain a long‐term treatment response, suggesting that CIP may be an underrecognized factor in R‐CPD treatment durability ...
Andrew Geoffrey Tritter   +2 more
wiley   +1 more source

Locking plates for distal femur fractures does an increased working length improve healing? [PDF]

open access: yes, 2013
Includes abstract.Includes bibliographical references.Distal femur locking plates have become a very popular means of internal fixation because of their ability to provide stable distal periarticular fixation.
Koller, Ian M
core   +1 more source

A therapeutic leap: how myosin inhibitors moved from cardiac interventions to skeletal muscle myopathy solutions

open access: yesThe Journal of Clinical Investigation
The myosin inhibitor mavacamten has transformed the management of obstructive hypertrophic cardiomyopathy (HCM) by targeting myosin ATPase activity to mitigate cardiac hypercontractility.
Julius Bogomolovas, Ju Chen
doaj   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

open access: yesMovement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard   +33 more
wiley   +1 more source

Bethlem myopathy demonstrated in three generations of a rural West Virginia family carrying an autosomal dominant COL6A3 mutation

open access: yesMarshall Journal of Medicine, 2021
Mutations in the genes that code for type VI collagen can lead to what are known as the collagenopathies (collagen VI myopathies), such as Bethlem myopathy (BTHLM1), which affect structural tissues like muscles and tendons. We present the case of a young
Holly Farkosh, Dominika Lozowska
doaj   +1 more source

Enabling Functional Independence: A Scoping Review of Upper Extremity Assistive Devices for Adults With Progressive Neuromuscular Diseases

open access: yesMuscle &Nerve, EarlyView.
This scoping review summarizes the spectrum of upper extremity assistive devices for adults with progressive neuromuscular diseases, ranging from low‐tech supports to advanced robotics, exoskeletons, and brain‐computer interface systems. While these technologies show promise for improving enabling function, current evidence is largely limited to ...
Katherine M. Burke   +13 more
wiley   +1 more source

Myopathy of distal lower limbs: the clinical variant of Miyoshi

open access: yesArquivos de Neuro-Psiquiatria, 2003
Miyoshi distal dystrophy is a rare myopathy characterized by an autosomal recessive pattern of inheritance and it is prevalent in Japan. Onset of disease is in early adult life with weakness and atrophy of the leg muscles.
Soares Cristiane N.   +5 more
doaj  

Incretin‐Based Therapies: A Testable Hypothesis Linking Incretin Signaling, Mitochondrial Redox, and OXPHOS Efficiency

open access: yesObesity, EarlyView.
ABSTRACT Objective Incretin‐based obesity therapies (IBTs), especially GLP‐1 receptor agonists (GLP‐1 RAs), effectively treat obesity and improve comorbidities. However, their impact on energy metabolism is unclear. A recent case of acute generalized muscle weakness in a patient with mitochondrial myopathy after tirzepatide exposure raises concerns ...
Bryn Falahee   +2 more
wiley   +1 more source

COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report

open access: yesBMC Neurology, 2019
Background Collagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and cutaneous alterations, attributable
Mengxin Bao   +7 more
doaj   +1 more source

Muscle fatigue in patients with severe long COVID: A 2‐year follow‐up study

open access: yesPM&R, EarlyView.
Abstract Background Fatigue is recognized as one of the most persistent and debilitating symptoms of long COVID, affecting both functionality and quality of life. However, its long‐term effects, especially beyond the first year after infection, remain poorly understood.
Isabella da Silva Almeida   +6 more
wiley   +1 more source

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