Results 131 to 140 of about 533,959 (341)

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  

Feedback control of unsupported standing [PDF]

open access: yes, 1999
This paper presents the results of continuing work on feedback control of unsupported standing in paraplegia. Our experimental setup considers a situation in which all joints above the ankle are braced, and stabilising torque at the ankle is generated by
Donaldson, N.   +3 more
core  

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales   +10 more
wiley   +1 more source

Appropriate staging techniques in total ankle reconstruction

open access: yesFoot & Ankle Surgery: Techniques, Reports & Cases, 2023
Varus and valgus ankle deformities were once considered contraindications for TAA, and were primarily treated by tibiotalar fusions. As the total ankle implant generations matured in conjunction with evolving surgeon techniques the indications for total ...
Keegan A. Duelfer, DPM   +1 more
doaj  

Origin of the ankle in the ultra-high energy cosmic ray spectrum and of the extragalactic protons below it

open access: yes, 2015
The sharp change in slope of the ultrahigh energy cosmic ray (UHECR) spectrum around 10^18.6 eV (the ankle), combined with evidence of a light but extragalactic component near and below the ankle and intermediate composition above, has proved exceedingly
Anchordoqui, Luis A.   +2 more
core   +2 more sources

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher   +6 more
wiley   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

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