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Congenital scoliosis

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https://www.readbyqxmd.com/read/28727996/efficacy-and-safety-of-one-stage-posterior-hemivertebral-resection-for-unbalanced-multiple-hemivertebrae-a-more-than-2-year-follow-up
#1
Yong Huang, Ganjun Feng, Yueming Song, Limin Liu, Chunguang Zhou, Lei Wang, Zhongjie Zhou, Xi Yang
OBJECTIVE: One-stage posterior hemivertebral resection has been proven to be an effective, reliable surgical option for treating congenital scoliosis due to a single hemivertebra. To date, however, no studies of treating unbalanced multiple hemivertebrae have appeared. This study evaluated the efficacy and safety of one-stage posterior hemivertebral resection for unbalanced multiple hemivertebrae. PATIENTS AND METHODS: Altogether, we studied 15 patients with unbalanced multiple hemivertebrae who had undergone hemivertebral resection using the one-stage posterior approach with at least 2 years of follow-up...
July 12, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28719048/developmental-mechanisms-of-intervertebral-disc-and-vertebral-column-formation
#2
REVIEW
Lisa Y Lawson, Brian D Harfe
The vertebral column consists of repeating units of ossified vertebrae that are adjoined by fibrocartilagenous intervertebral discs. These structures form from the embryonic notochord and somitic mesoderm. In humans, congenital malformations of the vertebral column include scoliosis, kyphosis, spina bifida, and Klippel Feil syndrome. In adulthood, a common malady affecting the vertebral column includes disc degeneration and associated back pain. Indeed, recent reports estimate that low back pain is the number one cause of disability worldwide...
July 18, 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/28704301/congenital-unilateral-absence-of-the-upper-extremity-may-give-rise-to-a-specific-kind-of-thoracolumbar-curve
#3
Z Deniz Olgun, Gokhan Demirkiran, David Polly, Muharrem Yazici
There is an increased incidence of scoliosis in patients with congenital malformations of the upper extremity even in the absence of overt vertebral abnormalities. In this case series, we summarize the curve characteristics of four patients presenting to two spine surgery clinics with unilateral amelia or phocomelia and a progressive scoliotic curve with the apex on the side of deficiency. All patients required orthopedic intervention for their curves. Amelia and phocomelia are severe congenital malformations of the upper limb affecting trunk balance and, conceivably, causing scoliosis with the absence of counterbalancing weight on the affected side...
July 12, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28700454/posterior-only-hemivertebra-resection-for-congenital-cervicothoracic-scoliosis-correcting-neck-tilt-and-balancing-the-shoulders
#4
Zhonghui Chen, Yong Qiu, Zezhang Zhu, Song Li, Xi Chen, Liang Xu, Xu Sun
STUDY DESIGN: A retrospective study. OBJECTIVE: To evaluate radiographic and cosmetic outcomes following posterior-only cervicothoracic hemivertebra resection and instrumentation. SUMMARY OF BACKGROUND DATA: Cervicothoracic hemivertebra is a rare congenital deformity. It locates between the mobile cervical spine and the fixed thoracic spine, leading to rapid curve progression, shoulder imbalance, fixed torticollis and facial asymmetry. METHODS: This study reviewed a consecutive series of 18 patients with cervicothoracic hemivertebra...
July 11, 2017: Spine
https://www.readbyqxmd.com/read/28671878/application-of-low-dose-stereoradiography-in-in-vivo-vertebral-morphologic-measurements-comparison-with-computed-tomography
#5
Saba Pasha, Tom Schlösser, Xiaowei Zhu, Xochitl Mellor, René Castelein, John Flynn
BACKGROUND: Though computed tomography (CT) and 3 dimensional (3D) reconstruction of the spine and ribcage are powerful techniques for detailed monitoring of spinal growth and surgical planning of patients, drawbacks can arise. We explored the application of low-dose stereoradiography of the spine to calculate distinct morphologic parameters of the vertebral body in a juvenile patient population with early-onset scoliosis or congenital scoliosis. This study compares the 3D vertebral morphology measurements using low-dose stereoradiography with the currently accepted imaging modality for such measurements, CT scans...
June 30, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28665821/spine-and-thoracic-height-measurements-have-excellent-interrater-and-intrarater-reliability-in-patients-with-early-onset-scoliosis
#6
Nicole Michael, Patrick Carry, Mark Erickson, Nikki Bloch, Steven Gibbons, Courtney O'Donnell, Sumeet Garg
STUDY DESIGN: Reproducibility of measurements OBJECTIVE.: This study investigates the reliability and standard error of measurement of spine and thoracic height radiographic measurements in patients with early onset scoliosis (EOS). SUMMARY OF BACKGROUND DATA: Spine and thoracic height radiographic measurements are often used as a surrogate for pulmonary development in patients with EOS. There is limited literature validating the reliability of spine and thoracic height measurements in the EOS population...
June 29, 2017: Spine
https://www.readbyqxmd.com/read/28660205/pneumothoraces-in-collagen-vi-related-dystrophy-a-case-series-and-recommendations-for-management
#7
Kristin L Fraser, Scott Wong, A Reghan Foley, Sameer Chhibber, Carsten G Bönnemann, Daniel J Lesser, Carla Grosmann, Anne Rutkowski
Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused by mutations in the COL6A1, COL6A2 or COL6A3 genes. The phenotypic spectrum includes early-onset Ullrich congenital muscular dystrophy, adult-onset Bethlem myopathy and an intermediate phenotype. The disorder is characterised by distal hyperlaxity and progressive muscle weakness, joint contractures and respiratory insufficiency. Respiratory insufficiency is attributed to chest wall contractures, scoliosis, impaired diaphragmatic function and intercostal muscle weakness...
April 2017: ERJ Open Research
https://www.readbyqxmd.com/read/28654575/update-on-classification-and-diagnosis-of-vascular-malformations
#8
Catherine C McCuaig
PURPOSE OF REVIEW: This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia. RECENT FINDINGS: The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified...
August 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28633648/radiologic-comparison-of-posterior-release-internal-distraction-final-pso-and-spinal-fusion-with-one-stage-posterior-vertebral-column-resection-for-multi-level-severe-congenital-scoliosis
#9
Shichang Liu, Nannan Zhang, Yueming Song, Zongrang Song, Liping Zhang, Jijun Liu, En Xie, Qining Wu, Dingjun Hao
BACKGROUND: To compare radiologic results of posterior release, internal distraction, and final pedicle subtraction osteotomy (PSO) and spinal fusionwith one-stage posterior vertebral column resection (PVCR) in treating multi-level severe congenital scoliosis. METHODS: Forty-onesevere congenital scoliosis patients were used in the study. Group A comprised 24 patients who underwent one-stage PVCR. Group B comprised 17 patients who underwent posterior release with internal distraction, followed by final posterior fusion and instrumentation...
June 20, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28614287/nasal-swab-screening-for-staphylococcus-aureus-in-spinal-deformity-patients-treated-with-growing-rods
#10
Scott J Luhmann, June C Smith
BACKGROUND: Surgical-site infections are one of the most concerning complications in patients treated with growing rods (GR). The purpose of this study was to evaluate the use of preoperative screening for Staphylococcus aureus (SA) for all growing spine procedures, and if this would permit alteration of prophylactic antibiotics to cover the identified resistances. METHODS: All patients were identified who had SA screening during the course of GR treatment. In otal, 34 patients [23 neuromuscular (NMS), 4 congenital, 4 idiopathic scoliosis (IS), and 3 syndromic] were identified who had 111 preoperative screenings [79 lengthenings, 23 insertions, 6 revisions, and 3 conversions to posterior spinal fusions (PSF)]...
June 13, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28612981/congenital-telangiectatic-und-pigmented-lesions-associated-with-lymphedema-difference-in-leg-length-and-scoliosis
#11
Patricia Convalexius, Thomas A Luger, Markus Böhm
No abstract text is available yet for this article.
June 14, 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28603565/current-concepts-congenital-scoliosis
#12
Agnivesh Tikoo, Manish K Kothari, Kunal Shah, Abhay Nene
BACKGROUND: Congenital scoliosis is one of the 'difficult to treat' scenarios which a spine surgeon has to face. Multiple factors including the age of child at presentation, no definite pattern of deformity and associated anomalies hinder the execution of the ideal treatment plan. All patients of congenital scoliosis need to be investigated in detail. X rays and MRI of spine is usually ordered first. Screening investigations to rule out VACTERL (Visceral, Anorectal, Cardiac, Tracheo-esophageal fistula, Renal and Lung) abnormalities are required...
2017: Open Orthopaedics Journal
https://www.readbyqxmd.com/read/28594523/congenital-scoliosis-a-case-based-approach
#13
Frances A Farley, Laurel C Blakemore
Congenital scoliosis is lateral curvature of the spine caused by vertebral anomalies. Congenital scoliosis is associated with congenital anomalies of other organ systems. Traditionally, treatment options for patients with congenital scoliosis focused on posterior spinal fusion. Current surgical treatment options for young children include growing rods, vertical expandable prosthetic titanium ribs, and, most recently, magnetic rods. Hemivertebrae resection is an important early treatment option for patients who have a hemivertebra...
February 15, 2017: Instructional Course Lectures
https://www.readbyqxmd.com/read/28593385/tailor-made-management-of-thoracic-scoliosis-with-cervical-hyperextension-in-muscular-dystrophy
#14
A Angelliaume, L Harper, A Lalioui, A Delgove, Y Lefèvre
PURPOSE: We report the case of a 13-year-old boy managed for fixed cervical hyperextension due to congenital muscular dystrophy with partial merosin deficiency. He presented a right decompensated thoracic scoliosis (T6-L1 Cobb angle 72°) associated with cervical and lumbar lordosis. The spinal extension was accompanied by major flexion of the hip resulting in the trunk being bent forward. This posture caused daily severe back pain responsible for significant loss of quality of life. This led to the decision to perform surgery...
June 7, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28565896/effects-of-magnetically-controlled-growing-rods-surgery-on-pulmonary-function-in-young-subjects-with-spinal-muscular-atrophy-type-2-and-other-neuromuscular-scoliosis
#15
Luca Colombo, Carlotta Martini, Chiara Bersanini, Francesca Izzo, Jorge H Villafañe, Pedro Berjano, Claudio Lamartina
BACKGROUND: The aim of this study was to determine the effects of magnetically controlled growing rods surgery (MCGRS) of the scoliosis on pulmonary function in children with neuromuscular scoliosis. METHODS: Seven patients, 85.7% female (mean ± SD age: 6.7±1.2 years), with neuromuscular scoliosis (4 SMA II, 2 congenital myopathies and 1 VACTER syndrome), received MCGRS of the spine in the thoraco-lumbar area. The outcome measures were clinical features and pulmonary function (forced vital capacity [FVC] and forced expiratory volume in 1st second [FEV1], were collected...
May 31, 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/28560466/real-life-effectiveness-of-spa-therapy-in-rheumatic-and-musculoskeletal-diseases-a-retrospective-study-of-819-patients
#16
Mine Karagülle, Sinan Kardeş, Müfit Zeki Karagülle
The objective of this study is to determine the use and efficacy of spa therapy in patients with a wide spectrum of rheumatic and musculoskeletal diseases under real-life clinical practice circumstances. In this retrospective observational study at the Medical Ecology and Hydroclimatology Department of Istanbul Faculty of Medicine, the records of all adult patients with rheumatic and musculoskeletal diseases who were prescribed a spa therapy in various health resorts in Turkey between 2002 and 2012 were analyzed...
May 30, 2017: International Journal of Biometeorology
https://www.readbyqxmd.com/read/28557818/posterior-only-hemivertebra-resection-with-anterior-structural-reconstruction-with-a-titanium-mesh-cage-and-short-segmental-fusion-for-the-treatment-of-congenital-scoliokyphosis-the-indications-and-preliminary-results
#17
Shengru Wang, Jianguo Zhang, Guixing Qiu, Shugang Li, Yanbin Zhang, Yang Yang, Xisheng Weng
STUDY DESIGN: Perspective study. OBJECTIVES: To evaluate the indications and preliminary results of posterior hemivertebra resection with anterior structural reconstruction with a titanium mesh cage and short segmental fusion. SUMMARY OF BACKGROUND DATA: There exist lots of reports on posterior hemivertebra resection for the early surgical intervention of congenital scoliosis due to hemivertebra. However, few reports describe the procedure of the anterior structural reconstruction after posterior hemivertebra resection...
May 26, 2017: Spine
https://www.readbyqxmd.com/read/28547000/whole-exome-sequencing-of-a-patient-with-suspected-mitochondrial-myopathy-reveals-novel-compound-heterozygous-variants-in-ryr1
#18
Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, Jessica L Jackson, Sarah Macklin, Margot A Cousin, Nicole J Boczek, Eric W Klee, Elliot L Dimberg, Kathleen D Kennelly, Paldeep S Atwal
BACKGROUND: Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS: We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28502730/overgrowth-syndromes-caused-by-somatic-variants-in-the-phosphatidylinositol-3-kinase-akt-mammalian-target-of-rapamycin-pathway
#19
REVIEW
Gozde Akgumus, Fengqi Chang, Marilyn M Li
Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28488400/kaposi-sarcoma-oral-malformations-mitral-dysplasia-and-scoliosis-associated-with-7q34-q36-3-heterozygous-terminal-deletion
#20
Carolyn C Jackson, Alain Lefèvre-Utile, Anne Guimier, Valérie Malan, Julie Bruneau, Antoine Gessain, Olivier Cassar, Jeanne Amiel, Aurélie Cobat, Vimel Rattina, Laurent Abel, Jean-Laurent Casanova, Stéphane Blanche
Chromosome 7 germline macrodeletions have been implicated in human congenital malformations and developmental delays. We herein report a novel heterozygous macrodeletion of 7q34-q36.3 in a 16-year-old girl originally from West Indies. Similar to previously reported cases of germline chromosome 7q terminal deletions, our patient has dental malposition, and developmental (growth and intellectual) delay. Novel phenotypic features include endemic Kaposi sarcoma (KS), furrowed tongue, thoracolumbar scoliosis, and mild mitral valve dysplasia...
May 9, 2017: American Journal of Medical Genetics. Part A
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