Results 51 to 60 of about 1,395 (175)

Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6 ‐Related Disorders: Clinical Experience and Literature Review

open access: yesOrthopaedic Surgery, Volume 17, Issue 7, Page 2025-2037, July 2025.
Selecting the STV as the LIV is recommended in spinal surgeries for patients with B3GALT6‐related disorders, considering the characteristic joint hypermobility associated with the condition. Additionally, preoperative Halo‐pelvic traction may also be safe and effective.
Aoran Maheshati   +13 more
wiley   +1 more source

The Impact of Treatment Method and Timing on the Long Term Outcomes of Pediatric Clubfoot Management

open access: yesFoot & Ankle Orthopaedics, 2022
Category: Other; Ankle; Hindfoot; Midfoot/Forefoot Introduction/Purpose: The Ponseti method of serial casting has been widely accepted as the new gold standard for management of idiopathic clubfoot, replacing joint invasive surgery, once the method-of ...
Julia Nguyen BS   +8 more
doaj   +1 more source

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study

open access: yesActa Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 5, Page 860-874, May 2025.
Of the 147 SD fetuses, 58 cases with negative CMA results underwent WES, and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including FGFR3 (n = 11), COL1A1 (n = 2), COL1A2 (n = 1), RUNX2 (n = 1), COL2A1 (n = 1), LMX1B (n = 1), GLI3 (n = 1), DYNC2H1 (n = 1), ALPL (n = 1), and SHOX (n = 1).
Mengting Jiang   +5 more
wiley   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol   +2 more
wiley   +1 more source

Can We Improve Our Routine Urological Assessment to Exclude Neurogenic Causes for Lower Urinary Tract Dysfunction? ICI‐RS 2024

open access: yesNeurourology and Urodynamics, Volume 44, Issue 3, Page 609-615, March 2025.
ABSTRACT Aims After presentation with urinary symptoms, an underlying neurological mechanism sometimes emerges subsequently. Increased awareness may bring earlier diagnosis, improving prognosis and outcomes. Methods A 2024 International Consultation on Incontinence Research Society think‐tank considered the clinical pathway for identification of an ...
Marcus J. Drake   +8 more
wiley   +1 more source

Treatment of the idiopathic and complex congenital talipes equinovarus with Ponseti method

open access: yesZdravniški Vestnik, 2015
:Congenital idiopathic clubfoot is a deformity typically occurring in an otherwise healthy child which occurs in 11,4 in 10.000 live births. Approximately one-half of cases present with bilateral deformity and affects boys and girls equally.
Lovro Suhodolčan   +3 more
doaj  

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.
ABSTRACT Background Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Li‐min Cui   +12 more
wiley   +1 more source

Community Ambulatory Activity in Children Treated for Clubfoot: 10-year Follow-up

open access: yesJournal of the Pediatric Orthopaedic Society of North America
Background: Nonoperative treatment of clubfoot deformity has been embraced globally due to enhanced physical function following treatment. To date, quantification of functional outcomes in children with clubfoot has focused largely on gait data collected
Kelly A. Jeans, MS   +2 more
doaj   +1 more source

Motor ability in children treated for idiopathic clubfoot. A controlled pilot study

open access: yesBMC Pediatrics, 2009
Background To study motor ability at seven years of age in children treated for idiopathic clubfoot and its relation to clubfoot laterality, foot status and the amount of surgery performed. Methods Twenty children (mean age 7.5 years, SD 3.2 months) from
Westbom Lena   +2 more
doaj   +1 more source

Anesthetic Challenges of Caring for an Adult With Moebius Syndrome: A Case Report

open access: yesCase Reports in Anesthesiology, Volume 2025, Issue 1, 2025.
Background Moebius syndrome (MBS) is a rare congenital disorder with facial nerve palsies and craniofacial malformations, increasing the risk of a difficult airway during anesthesia. We report a difficult airway in an adult with MBS during an elective procedure, which is unique as most reports of MBS are in children. Case Presentation Our patient was a
Geetasravya Vegunta   +6 more
wiley   +1 more source

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