Results 101 to 110 of about 379,395 (321)

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron   +8 more
wiley   +1 more source

Deep peroneal neuropathy diagnosed by musculoskeletal ultrasound after ankle arthrodesis with an anterior plate: a case report

open access: yesFoot & Ankle Surgery: Techniques, Reports & Cases, 2022
Anterior tarsal tunnel syndrome is a unique diagnosis that is not encountered with the same frequency as other entrapment neuropathies, especially in relation to anterior plating for ankle arthrodesis.
Ryan Stone, DPM   +6 more
doaj  

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt   +4 more
wiley   +1 more source

Stabilization of Exoskeletons through Active Ankle Compensation [PDF]

open access: yesarXiv, 2019
This paper presents an active stabilization method for a fully actuated lower-limb exoskeleton. The method was tested on the exoskeleton ATALANTE, which was designed and built by the French start-up company Wandercraft. The main objective of this paper is to present a practical method of realizing more robust walking on hardware through active ankle ...
arxiv  

A mouse coccygeal intervertebral disc degeneration model with tail‐looping constructed using a suturing method

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A novel, simple coccygeal intervertebral disc degeneration model, using a suturing method for tail‐looping, without the need for external fixation and complex surgery. The model has high reproducibility and stability and overcomes the disadvantages of the existing animal models of disc degeneration.
Wei Xie   +11 more
wiley   +1 more source

Chronic ankle instability: Current perspectives

open access: yesAvicenna Journal of Medicine, 2016
Ankle sprain is reported to be among the most common recurrent injuries. About 20% of acute ankle sprain patients develop chronic ankle instability. The failure of functional rehabilitation after acute ankle sprain leads to the development of chronic ...
O. Al-Mohrej, Nader S. Al-Kenani
semanticscholar   +1 more source

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy

open access: yesArthritis &Rheumatology, EarlyView.
Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison   +9 more
wiley   +1 more source

Revision total talus replacement with constrained implant

open access: yesFoot & Ankle Surgery: Techniques, Reports & Cases, 2022
Avascular necrosis of the talus can oftentimes result in severe painful deformity due to the eventual collapse of the body. This condition historically has had limited options for joint sparing procedures.
Keegan A. Duelfer, DPM   +1 more
doaj  

Brachial-Ankle PWV: Current Status and Future Directions as a Useful Marker in the Management of Cardiovascular Disease and/or Cardiovascular Risk Factors.

open access: yesJournal of atherosclerosis and thrombosis, 2016
Since 2001, brachial-ankle pulse wave velocity (brachial-ankle PWV) measurement has been applied for risk stratification of patients with atherosclerotic cardiovascular disease and/or its risk factors in Japan.
H. Tomiyama   +3 more
semanticscholar   +1 more source

Role of STING Deficiency in Amelioration of Mouse Models of Lupus and Atherosclerosis

open access: yesArthritis &Rheumatology, EarlyView.
Objective Systemic lupus erythematosus (SLE) is a systemic autoimmune syndrome characterized by autoreactive responses to nucleic acids, dysregulation of the type I interferon (IFN‐I) pathway, and accelerated atherosclerosis. The stimulator of IFN genes (STING), a cytosolic DNA sensor, has pathogenic implications in various inflammatory diseases ...
Yudong Liu   +10 more
wiley   +1 more source

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