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https://www.readbyqxmd.com/read/28735128/a-ct-based-comparison-of-abnormal-vertebrae-pedicles-between-dystrophic-and-nondystrophic-scoliosis-in-neurofibromatosis-type-1
#1
Ying Li, Ming Luo, Wengang Wang, Mingkui Shen, Genzhong Xu, Jianbo Gao, Lei Xia
OBJECTIVE: To explore the prevalence and distribution of abnormal vertebral pedicles in scoliosis secondary to neurofibromatosis type 1 (NF1-S) and to compare the abnormal vertebrae pedicles between dystrophic and nondystrophic scoliosis. METHODS: We carefully measured 2,652 vertebral pedicles from 56 NF1-S patients with dystrophic scoliosis and 22 NF1-S patients with nondystrophic scoliosis using CT images. Pedicle morphology was classified as follows: type A, a cancellous channel of > 4 mm; type B, a cancellous channel of 2 to 4 mm; type C, a cancellous channel of < 2 mm with an entirely cortical channel of ≥ 2 mm; type D, a cortical channel of < 2 mm; or type E, absent pedicle...
July 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28728825/genetic-diseases-of-piezo1-and-piezo2-dysfunction
#2
S L Alper
Mutations in the genes encoding the mechanosensitive cation channels PIEZO1 and PIEZO2 are responsible for multiple hereditary human diseases. Loss-of-function mutations in the human PIEZO1 gene cause autosomal recessive congenital lymphatic dysplasia. Gain-of-function mutations in the human PIEZO1 gene cause the autosomal dominant hemolytic anemia, hereditary xerocytosis (also known as dehydrated stomatocytosis). Loss-of-function mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis...
2017: Current Topics in Membranes
https://www.readbyqxmd.com/read/28728258/-follow-up-and-genetic-study-of-43-chinese-children-with-type-%C3%A2-alexander-disease
#3
T T Ban, Y Wu, Z B Zhang, L L Zang, J M Wang, Y W Jiang
Objective: To identify the clinical and genetic characteristics in 43 Chinese children diagnosed with type Ⅰ Alexander disease (AxD). Method: Forty-three type Ⅰ AxD cases identified by glial fibrillary acidic protein (GFAP) gene mutations in Peking University First Hospital from 2005 to 2016 were followed up. The data of medical history, physical examination and magnetic resonance imaging (MRI) were collected. All these patients were followed up in December 2010, Febury 2012, June 2014 and January 2016, respectively...
July 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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
#4
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/28725867/revisiting-the-psychometric-properties-of-the-scoliosis-research-society-22-srs-22-french-version
#5
Jean Théroux, Norman Stomski, Stanley Innes, Ariane Ballard, Christelle Khadra, Hubert Labelle, Sylvie Le May
BACKGROUND: Adolescent idiopathic scoliosis (AIS) is among the most common spinal deformities affecting adolescents. The Scoliosis Research Society-22 questionnaire is commonly used to assess health-related quality of life in AIS patients, including pain. The objective of this study is to verify the psychometric properties of the Scoliosis Research Society-22 French version (SRS-22fv) questionnaire. METHODS: A prospective methodological design was used to verify the psychometric properties of the French version of the SRS-22fv...
2017: Scoliosis and Spinal Disorders
https://www.readbyqxmd.com/read/28723878/evolution-of-surgery-for-adolescent-idiopathic-scoliosis-over-20-years-have-outcomes-improved
#6
Baron S Lonner, Yuan Ren, Burt Yaszay, Patrick J Cahill, Suken A Shah, Randal R Betz, Amer F Samdani, Harry L Shufflebarger, Peter O Newton
STUDY DESIGN: Retrospective review of a prospective Adolescent Idiopathic Scoliosis (AIS) registry OBJECTIVE.: To study the evolution of the operative approach, outcomes and complication rates in AIS surgery over the past 20 years. METHODS: 1819 AIS patients (1995-2013) with 2-year F/U were studied. Operative approach, perioperative parameters, major complication rates, and SRS outcomes were assessed. Linear regression was used to assess the trend of changes over 5-year quartiles...
July 18, 2017: Spine
https://www.readbyqxmd.com/read/28723766/lady-with-wings-a-case-report-of-giant-neurofibromatosis-type-i
#7
Suraj Maharjan, Xiucun Li, Jianli Cui, Yang Liu, Laijin Lu
RATIONALE: Neurofibromatosis type I (NF-I) accounts for approximately 90% of neurofibromatosis. NF-I is an autosomal dominant genetic disease which results from the gene mutation of NF-I situated in chromosome 17q11.2. PATIENT CONCERNS: A 32-year-old lady presented with a giant wing like structure on her back which started growing from her childhood. DIAGNOSIS: A diagnosis of NF-I was confirmed as she presented with multiple cutaneous nodules, multiple café-au-lait macules of different sizes, scoliosis deformity, and positive family history of neurofibroma...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28719560/perioperative-and-delayed-major-complications-following-surgical-treatment-of-adolescent-idiopathic-scoliosis
#8
Carrie E Bartley, Burt Yaszay, Tracey P Bastrom, Suken A Shah, Baron S Lonner, Jahangir Asghar, Firoz Miyanji, Amer Samdani, Peter O Newton
BACKGROUND: Reporting accurate surgical complication rates to patients and their families is important in the management of adolescent idiopathic scoliosis (AIS). In this study, we report the rate of major complications following the surgical treatment of AIS both in the perioperative period and among patients with a minimum of 2 years of follow-up. METHODS: We reviewed the prospectively collected data of a multicenter registry of patients who underwent surgical treatment of AIS during the period of 1995 to 2014 in order to identify all complications...
July 19, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28719048/developmental-mechanisms-of-intervertebral-disc-and-vertebral-column-formation
#9
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/28716073/surgical-correction-of-hyperlordosis-in-facioscapulohumeral-muscular-dystrophy-a-case-report
#10
Haining Tan, Fan Feng, Youxi Lin, Chong Chen, Zheng Li, Jianxiong Shen
BACKGROUND: Hyperlordosis is common in facioscapulohumeral muscular dystrophy (FSHD), which cannot be controlled by bracing. While the surgical treatment is neither reported nor recommended in previous studies, we report the first corrective surgery for hyperlordosis in one wheelchair-dependent FSHD patient. CASE PRESENTATION: A 15-year-old, wheelchair-dependent girl complaining of hyperlordosis and lower extremity weakness was diagnosed as FSHD. Preoperative examination showed hyperlordosis of 116° with scoliosis of 44°...
July 17, 2017: BMC Surgery
https://www.readbyqxmd.com/read/28714635/-adolescent-idiopathic-scoliosis-diagnostic-criteria-and-management
#11
Charlotte De Bodman, Pierre-Yves Zambelli, Romain Dayer
The rapid growth of the spine during the pubertal spurt requires greater vigilance for the pediatrician at the annual check during this period to detect the occurrence of scoliosis. Before confirming the diagnosis of idiopathic scoliosis, it is imperative to exclude a secondary cause with appropriate history and clinical examination, and in selective cases with additional testing. Any scoliosis detected during growth should be considered potentially progressive and sent to a specialist if it is equal to or exceeds 20° on the X-rays...
February 15, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28714182/rare-coding-variants-in-mapk7-predispose-to-adolescent-idiopathic-scoliosis
#12
Wenjie Gao, Chong Chen, Taifeng Zhou, Shulan Yang, Bo Gao, Hang Zhou, Chengjie Lian, Zizhao Wu, Xianjian Qiu, Xiaoming Yang, Esam Alattar, Wentao Liu, Deying Su, Silong Sun, Yulan Chen, Kenneth M C Cheung, Youqiang Song, Keith K D Luk, Danny Chan, Pak Chung Sham, Chao Xing, Chiea Chuen Khor, Gabriel Liu, Junlin Yang, Yubin Deng, Dingjun Hao, Dongsheng Huang, Quan-Zhen Li, Caixia Xu, Peiqiang Su
Adolescent idiopathic scoliosis (AIS) is a complex genetic disorder characterized by three-dimensional spinal curvatures, affecting 2-3% of school age children, yet the causes underlying AIS are not well understood. Here, we firstly conducted a whole-exome sequencing and linkage analysis on a three-generation Chinese family with autosomal dominant (AD) AIS, then performed targeted sequencing in a discovery cohort comprising 20 AD-AIS families and 86 simplex patients, and finally identified three disease-associated missense variants (c...
July 17, 2017: Human Mutation
https://www.readbyqxmd.com/read/28713252/effect-of-postural-control-demands-on-early-visual-evoked-potentials-during-a-subjective-visual-vertical-perception-task-in-adolescents-with-idiopathic-scoliosis
#13
Yi-Tzu Chang, Ling-Fu Meng, Chun-Ju Chang, Po-Liang Lai, Chi-Wen Lung, Jen-Suh Chern
Subjective visual vertical (SVV) judgment and standing stability were separately investigated among patients with adolescent idiopathic scoliosis (AIS). Although, one study has investigated the central mechanism of stability control in the AIS population, the relationships between SVV, decreased standing stability, and AIS have never been investigated. Through event-related potentials (ERPs), the present study examined the effect of postural control demands (PDs) on AIS central mechanisms related to SVV judgment and standing stability to elucidate the time-serial stability control process...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28712731/cervical-dystonia-patients-display-subclinical-gait-changes
#14
Marcello Esposito, Raffaele Dubbioso, Silvio Peluso, Antonio Picone, Bruno Corrado, Clemente Servodio Iammarone, Roberto Allocca, Fiore Manganelli, Lucio Santoro, Alfonso Fasano
INTRODUCTION: Gait disorders in cervical dystonia (CD) are reported in patients under DBS or in severe cases complicated with spinal deformities. OBJECTIVE: to assess walking motor pattern in CD patients without DBS and not presenting scoliosis. METHODS: Computerized gait analysis (CGA) was performed in CD patients, before and after botulinum toxin (BoNT) injections, and in healthy controls (HC). Spatiotemporal (ST) parameters were compared between CD and HC groups...
July 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28710669/current-insights-into-the-aetiology-of-adolescent-idiopathic-scoliosis
#15
Michal Latalski, A Danielewicz-Bromberek, M Fatyga, M Latalska, M Kröber, P Zwolak
Scoliosis occurs in about 0.2-0.6% of the general population. In the majority of cases the cause of this entity remains mostly unidentified. The search for the causes covers almost all aspects of its possible origin. We collected and systematised the contemporary theories and concepts concerning the aetiology of adolescent idiopathic scoliosis. Genetic and hereditary factors are commonly accepted as possible causes; however, the identification of the single gene responsible for the development of this condition seems impossible, which suggests multifactorial mechanism of its formation...
July 14, 2017: Archives of Orthopaedic and Trauma Surgery
https://www.readbyqxmd.com/read/28704301/congenital-unilateral-absence-of-the-upper-extremity-may-give-rise-to-a-specific-kind-of-thoracolumbar-curve
#16
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/28702395/anatomical-and-radiological-characteristics-in-adolescent-idiopathic-scoliosis-with-surgical-indication
#17
Mauro Costa Morais Tavares Junior, Felipe Ribeiro Ledur, Olavo Biraghi Letaif, Raphael Martus Marcon, Alexandre Fogaça Cristante, Tarcisio Eloy Pessoa de Barros Filho
OBJECTIVE: This study aims to analyze the anatomical and radiological characteristics of adolescent idiopathic scoliosis patients with surgical indication. METHODS: Retrospective, descriptive study of 100 medical records pertaining to patients included in the group of scoliosis with surgical indication from the years 2008 to 2015. Descriptive statistics were used for statistical analysis. RESULTS: 28 patients met the inclusion and exclusion criteria, and were selected for the study...
May 2017: Revista Brasileira de Ortopedia
https://www.readbyqxmd.com/read/28700454/posterior-only-hemivertebra-resection-for-congenital-cervicothoracic-scoliosis-correcting-neck-tilt-and-balancing-the-shoulders
#18
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/28695338/management-of-concomitant-scoliosis-and-tethered-cord-syndrome-in-non-spina-bifida-pediatric-population
#19
REVIEW
Kaan Yaltırık, Najib E El Tecle, Matthew J Pierson, Aki Puryear, Basar Atalay, Samer K Elbabaa
BACKGROUND: The management of concomitant scoliosis and tethered cord syndrome in the non-spina bifida pediatric population is challenging. In the present study, we evaluate the efficacy of different treatment modalities and propose a treatment plan for the management of affected patients. METHODS: A systematic literature review was conducted by querying the MEDLINE, PubMed, Cochrane, EMBASE, Scopus, and Web of Science databases for papers published between January 1996 and June 2016 and reporting on concomitant scoliosis and tethered cord...
July 10, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28690031/prevalence-of-pain-in-240-non-ambulatory-children-with-severe-cerebral-palsy
#20
I Poirot, V Laudy, M Rabilloud, S Roche, T Ginhoux, B Kassaï, C Vuillerot
BACKGROUND: Several studies have given frequencies of pain in children with cerebral palsy, but comparing the findings is difficult. We aimed to estimate the prevalence of pain in non-ambulatory children with cerebral palsy and describe their characteristics by presence or absence of pain. METHODS: Data were extracted from an ongoing longitudinal national cohort following non-ambulatory children with severe cerebral palsy aged 3 to 10years over 10years. We described and compared data for the first 240 children at inclusion by presence or absence of pain...
July 6, 2017: Annals of Physical and Rehabilitation Medicine
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