Results 71 to 80 of about 5,857 (209)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1543-1557, August 2026.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series

open access: yesHealth Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem   +9 more
wiley   +1 more source

The surgical treatment of equinovarus deformity in adults with spasticity

open access: yes, 1978
Adults with deformities of the lower limb due to spasticity may be considerably improved by operation, but thorough pre-operative assessment as an inpatient is essential in order to pinpoint the disability.
A Williams, BA Roper, JB King
core   +1 more source

Assessment of the Anterior Talofibular Ligament Thickness in Patients with Chronic Stroke: An Ultrasonographic Study

open access: yesJournal of Medical Ultrasound, 2017
Background: Patients with equinovarus deformity have an increased risk of fall and ankle ligament injury, because of inappropriate prepositioning of the ankle at the end of the swing phase, and inadequate leg and ankle stability during the stance phase ...
Mustafa Turgut Yildizgoren   +3 more
doaj   +1 more source

Delay in Diagnosis of Classical Homocystinuria

open access: yesJIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Subadra Wanninayake   +5 more
wiley   +1 more source

Lack of seasonal variation in idiopathic talipes equinovarus.

open access: yes, 2006
BACKGROUND: One proposed etiology of idiopathic talipes equinovarus is an in utero enterovirus infection. Enterovirus infections demonstrate seasonal variation in temperate climates.
Hamby Z   +6 more
core  

Talipes equinovarus in children [PDF]

open access: yesСаратовский научно-медицинский журнал, 2017
The research goal of the review is to present data on etiology, prevalence, classification of different types TEN/ in children. Mechanisms of pathological foot type, indications for conservative and surgical methods of treatment have been analyzed.
Timaev M.Kh.   +5 more
doaj  

Anatomical landmarks for tibial nerve motor branches in the management of spastic equinovarus foot after stroke: An ultrasonographic study

open access: yesJournal of Rehabilitation Medicine, 2019
Objective: To identify the anatomical landmarks of tibial motor nerve branches to the gastrocnemii, soleus and tibialis posterior muscles for selective motor nerve blocks in the management of spastic equinovarus foot.
Alessandro Picelli   +8 more
doaj   +1 more source

The Results of the Early Conservative Orthopedic Treatment in the Congenital Talipes Equinovarus

open access: yesApplied Medical Informatics, 2011
The treatment concerning the talipes equinovarus has now a protocole that is well established. That is why, for the pediatric orthopedist, the selection of the therapeutical decision so that when the bone reaches maturity the morphology and ...
Dana VASILESCU   +4 more
doaj   +2 more sources

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