Results 61 to 70 of about 65,454 (324)

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

Primary plastics of Achilles tendon by plantar muscle tendon for the prevention of repeated ruptures (experimental research)

Acta Biomedica Scientifica, 2013
The most important requirement to Achilles tendon suture is its ability to hold loading both in postoperative and. in rehabilitation period. The research was aimed, at the comparison of strength of classic intertendon suture of Achilles tendon and ...
N. S. Ponomarenko, I. A. Kuklin, N. V. Tishkov, L. A. Zimina, A. V. Semenov, A. P. Zaytsev, A. S. Bubnov   +6 more
doaj  

Active Auxetic Heel Support for Achilles Tendon Therapy [PDF]

, 2018
The Achilles tendon, which stretches from the calf to the ankle, can be injured due to repeated daily activities or overstretching. In severe cases a tear in the tendon can prevent athletes from performing in games as well as individuals from completing ...
Hinrichs, Anna, Malukhina, Kseniya, Sharma, Ishaan, Vierra, Micaela   +3 more
core   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Regional variations in incidence and treatment trends of Achilles tendon ruptures in Finland: a nationwide study

Acta Orthopaedica
Background and purpose: The aim of our study was to assess the regional variations in Achilles tendon rupture incidence and treatment methods in Finland during the period 1997–2019.
Marjukka Hallinen, Henri Sallinen, Heli Keskinen, Markus Matilainen, Elina Ekman   +4 more
doaj   +1 more source

Repair of chronic Achilles tendon rupture using Bosworth’s technique

Journal of Orthopaedics, Trauma and Rehabilitation, 2022
Background: A large number of ruptures of the Achilles tendon occurs in the watershed hypovascular region (zone II) of the tendon which is approximately 2–6 cm proximal to the insertion of tendon at calcaneum.
Dhruba Narayan Borah, Siddhartha Rai, Herman Conrad Frank, Anshuman Dutta   +3 more
doaj   +1 more source

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

Does the ultrasound imaging predict lower limb tendinopathy in athletes: a systematic review

BMC Medical Imaging, 2023
Background To conduct a systematic review looking into the possibility of US imaging to anticipate and identify future patellar or Achilles tendinopathy symptoms.
Faiza Sharif, Ashfaq Ahmad, Aliha Shabbir   +2 more
doaj   +1 more source

Altered Achilles Tendon Morphology in Individuals With Chronic Post-Stroke Hemiparesis: A Case Report

, 2020
Background: Individuals post-stroke walk slowly and with more effort, which puts them at higher risks for falls. The slow walking speed results from insufficient propulsive forces generated by the paretic leg.
Ho, Kai-Yu, Liang, Jing Nong
core   +1 more source

The comprehensive cohort model in a pilot trial in orthopaedic trauma [PDF]

, 2011
Background: The primary aim of this study was to provide an estimate of effect size for the functional outcome of operative versus non-operative treatment for patients with an acute rupture of the Achilles tendon using accelerated rehabilitation for ...
AM Grant, BA Salen, J Leppilahti, JA Freiman, Juul Achten, K Nilsson-Helander, K Nilsson-Helander, M Campbell, M Moller, Matthew L Costa, ML Costa, N Maffulli, Nick R Parsons, P Craig, R Brooks, R Cetti, Rebecca S Kearney, RJ Khan, S Kerry   +18 more
core   +3 more sources