Results 51 to 60 of about 75,659 (315)

Radiographic Outcomes of Adult Spinal Deformity Correction : A Critical Analysis of Variability and Failures Across Deformity Patterns [PDF]

open access: yes, 2014
Study Design: Multicenter, prospective, consecutive, surgical case series from the International Spine Study Group. Objectives: To evaluate the effectiveness of surgical treatment in restoring spinopelvic (SP) alignment.
PRAVEEN, Mummaneni   +13 more
core   +1 more source

Controversies with nonoperative management for adolescent idiopathic scoliosis: Study from the APSS Scoliosis Focus Group [PDF]

open access: yes, 2020
Purpose: To determine consensus among Asia-Pacific surgeons regarding nonoperative management for adolescent idiopathic scoliosis (AIS). Methods: An online REDCap questionnaire was circulated to surgeons in the Asia-Pacific region during the period of ...
Sakai, D   +8 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet   +10 more
wiley   +1 more source

Evaluation of implant loosening following segmental pedicle screw fixation in adolescent idiopathic scoliosis: a 2 year follow-up with low-dose CT. [Elektronisk resurs]

open access: yes, 2014
The long term radiological status of screw fixation following scoliosis surgery with all pedicle screw construct is not previously ...
Abul-Kasim, Kasim,   +2 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli   +18 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

Three-dimensional (3D) ultrasound imaging for quantitative assessment of frontal cobb angles in patients with idiopathic scoliosis – a systematic review and meta-analysis

open access: yesBMC Musculoskeletal Disorders
Background Measurement of Cobb angle in the frontal plane from radiographs is the gold standard of quantifying spinal deformity in adolescent idiopathic scoliosis (AIS).
Cheuk-Kin Kwan   +11 more
doaj   +1 more source

Finite Element Analysis and Biomechanical Comparison of Short Posterior Spinal Instrumentation with Divergent Bridge Construct versus Parallel Tension Band Construct for Thoracolumbar Spine Fractures

open access: yesGlobal Spine Journal, 2013
The ideal treatment for unstable thoracolumbar fractures remains controversial with posterior reduction and stabilization, anterior reduction and stabilization, combined posterior and anterior reduction and stabilization, and even nonoperative management
Jean A. Ouellet MD, FRCSC   +9 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Neck and back problems in adults with idiopathic scoliosis diagnosed in youth: An observational study of prevalence, change over a mean four year time period and comparison with a control group

open access: yes, 2017
© 2017 The Author(s). Background: The knowledge is sparse concerning neck problems in patients with idiopathic scoliosis. This is an observational study including a control group which aims to describe the prevalence of neck problems and the association ...
Topalis, Christos   +6 more
core   +1 more source

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