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Congenital scoliosis

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https://www.readbyqxmd.com/read/28088503/evidence-for-splice-transcript-variants-of-tmem165-a-gene-involved-in-cdg
#1
Marie-Ange Krzewinski-Recchi, Sven Potelle, Anne Marie-Mir, Dorothée Vicogne, Eudoxie Dulary, Sandrine Duvet, Willy Morelle, Geoffroy de Bettignies, François Foulquier
BACKGROUND: Defects in TMEM165 gene cause a type-II Congenital Disorder of Glycosylation affecting Golgi glycosylation processes. TMEM165 patients exhibit psychomotor retardation, important osteoporosis, scoliosis, irregular epiphyses and thin bone cortex. Human TMEM165 protein is highly conserved in evolution and belongs to the family of UPF0016 membrane proteins which could be an unique group of Ca(2+)/H(+) antiporters regulating Ca(2+) and pH homeostasis and mainly localized in the Golgi apparatus...
January 11, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28079273/abnormal-fetal-muscle-forces-result-in-defects-in-spinal-curvature-and-alterations-in-vertebral-segmentation-and-shape
#2
Rebecca A Rolfe, James H Bezer, Tyler Kim, Ahmed Z Zaidon, Michelle L Oyen, James C Iatridis, Niamh C Nowlan
The incidence of congenital spine deformities, including congenital scoliosis, kyphosis and lordosis, may be influenced by the in utero mechanical environment, and particularly by fetal movements at critical time-points. There is a limited understanding of the influence of fetal movements on spinal development, despite the fact that mechanical forces have been shown to play an essential role in skeletal development of the limb. This study investigates the effects of muscle forces on spinal curvature, vertebral segmentation and vertebral shape by inducing rigid or flaccid paralysis in the embryonic chick...
January 12, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28065237/predictors-for-massive-blood-loss-during-posterior-correction-of-congenital-scoliosis-in-pre-school-children-a-retrospective-observation
#3
Le Shen, Wei-Yun Chen, Wu-Tao Wang, Hao-Nan Xu, Xue-Rong Yu, Xiu-Hua Zhang, Yu-Guang Huang
Objective To investigate the predictors for massive blood loss during posterior correction of congenital scoliosis in pre-school children. Methods Totally 124 children under six years of age,who received posterior correction of congenital scoliosis,were divided into two groups according to the ratio of intraoperative blood loss (BL) and estimated blood volume (EBV). Massive blood loss was defined as BL/EBV>0.15,and minor or moderate blood loss as BL/EBV≤0.15. All the records,including demographics,intraoperative fluids,pre- or postoperative laboratory parameters,and the length of hospital stay,were compared between these two groups...
December 20, 2016: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/28061881/moebius-sequence-a-multidisciplinary-clinical-approach
#4
Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen, John Rosendahl Østergaard
BACKGROUND: Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Ten children underwent odontological, ophthalmological, obstetric, paediatric, orthopaedic, genetic, radiological and photographical evaluation...
January 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28054739/compound-heterozygosity-for-null-mutations-and-a-common-hypomorphic-risk-haplotype-in-tbx6-causes-congenital-scoliosis
#5
Kazuki Takeda, Ikuyo Kou, Noriaki Kawakami, Aritoshi Iida, Masahiro Nakajima, Yoji Ogura, Eri Imagawa, Noriko Miyake, Naomichi Matsumoto, Yukuto Yasuhiko, Hideki Sudo, Toshiaki Kotani, Masaya Nakamura, Morio Matsumoto, Kota Watanabe, Shiro Ikegawa
Congenital scoliosis (CS) occurs as a result of vertebral malformations and has an incidence of 0.5-1/1,000 births. Recently, TBX6 on chromosome 16p11.2 was reported as a disease gene for CS; about 10% of Chinese CS patients were compound heterozygotes for rare null mutations and a common haplotype defined by three SNPs in TBX6. All patients had hemivertebrae. We recruited 94 Japanese CS patients, investigated the TBX6 locus for both mutations and the risk haplotype, examined transcriptional activities of mutant TBX6 in vitro, and evaluated clinical and radiographic features...
January 5, 2017: Human Mutation
https://www.readbyqxmd.com/read/28045856/a-multiparametric-alarm-criterion-for-motor-evoked-potential-monitoring-during-spine-deformity-surgery
#6
Martín J Segura, María E Talarico, Mariano A Noel
PURPOSE: This is a pilot study to compare changes in the amplitude, area below the curve, number of phases, duration, and latency of the intraoperative transcranial motor evoked potentials (TcMEP) for early detection of impending spinal cord injury. An empirical ratio calculated by a combination of the above-mentioned parameters was also assessed. METHODS: Intraoperative TcMEP recordings from five patients presenting with neuromuscular kyphoscoliosis, idiopathic scoliosis, achondroplasia and lumbar kyphosis, congenital kyphosis, and achondroplasia with cervical instability were reviewed...
January 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28029369/management-and-outcomes-of-scoliosis-in-children-with-congenital-diaphragmatic-hernia
#7
Ryan M Antiel, John S Riley, Patrick J Cahill, Robert M Campbell, Lindsay Waqar, Lisa M Herkert, Natalie E Rintoul, William H Peranteau, Alan W Flake, N Scott Adzick, Holly L Hedrick
PURPOSE: The purpose of this study was to evaluate the management and outcomes of CDH patients with scoliosis. METHODS: From January 1996 to August 2015, 26 of 380 (7%) CDH patients were diagnosed with scoliosis. Six (23%) were prenatally diagnosed by ultrasound, and 9 (35%) were diagnosed postnatally. The remaining 11 (42%) developed scoliosis after discharge. Mean follow-up was 6.6years. RESULTS: Among the 15 patients with congenital scoliosis, there were 2 (13%) perinatal deaths...
September 15, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28009797/what-s-new-in-congenital-scoliosis
#8
Joshua M Pahys, James T Guille
BACKGROUND: Congenital scoliosis is a failure of vertebral formation, segmentation, or a combination of the 2 arising from abnormal vertebral development during weeks 4 to 6 of gestation. The associated spinal deformity can be of varying severity and result in a stable or progressive deformity based on the type and location of the anomalous vertebra(e). Bracing for congenital scoliosis is rarely indicated, while recent reports have demonstrated the utility of serial derotational casting for longer curves with multiple anomalous vertebrae as an effective "time buying strategy" to delay the need for surgery...
December 22, 2016: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28006008/osmotic-and-heat-stress-effects-on-segmentation
#9
Julian Weiss, Stephen H Devoto
During vertebrate embryonic development, early skin, muscle, and bone progenitor populations organize into segments known as somites. Defects in this conserved process of segmentation lead to skeletal and muscular deformities, such as congenital scoliosis, a curvature of the spine caused by vertebral defects. Environmental stresses such as hypoxia or heat shock produce segmentation defects, and significantly increase the penetrance and severity of vertebral defects in genetically susceptible individuals. Here we show that a brief exposure to a high osmolarity solution causes reproducible segmentation defects in developing zebrafish (Danio rerio) embryos...
2016: PloS One
https://www.readbyqxmd.com/read/28002373/characteristics-and-clinical-relevance-of-the-osseous-spur-in-patients-with-congenital-scoliosis-and-split-spinal-cord-malformation
#10
Fan Feng, Jianxiong Shen, Jianguo Zhang, Shugang Li, Keyi Yu, Haining Tan
BACKGROUND: The natural history of split spinal cord malformation (SCM) is still unclear. Knowledge of the characteristics of the osseous spur and its relationship with the spinal deformity may allow early identification of patients with a higher risk of a neurological deficit and enhance surgical decision-making. METHODS: Eighty-five consecutive patients with congenital scoliosis and type-I SCM who had undergone surgical treatment at our hospital from May 2000 to December 2013 were identified retrospectively...
December 21, 2016: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/27999927/incidence-and-risk-factors-for-the-misplacement-of-pedicle-screws-in-scoliosis-surgery-assisted-by-o-arm-navigation-analysis-of-a-large-series-of-one-thousand-one-hundred-and-forty-five-screws
#11
Mengran Jin, Zhen Liu, Yong Qiu, Huang Yan, Xiao Han, Zezhang Zhu
PURPOSE: To assess the accuracy of O-arm-navigation-based pedicle screw placement in scoliosis surgery and identify the potential risk factors for the misplacement of pedicle screws. METHODS: One hundred forty four scoliosis patients treated with O-arm-navigation-based pedicle screw instrumentation were enrolled, and 1145 pedicle screws implanted in the apical region of the curves were retrospectively reviewed for accuracy according to post-operative CT images. The potential risk factors and independent predictive factor(s) for the misplaced screws were identified statistically...
December 21, 2016: International Orthopaedics
https://www.readbyqxmd.com/read/27988880/posterior-hemivertebrectomy-and-short-segment-fixation-long-term-results
#12
Saumyajit Basu, Agnivesh Tikoo
OBJECTIVES: The objectives of this study were to study the long-term results of one-stage single and multiple level posterior hemivertebrectomies and to find out the safety and efficacy of the procedure. METHOD: Twenty patients (9 male and 11 female) with mean age of 9.2 years (2 years 4 months-14 years 10 months) with congenital scoliosis (hemivertebrae) were treated with posterior hemivertebrectomy with intraoperative neuromonitoring. Posterior exposure and transpedicular fixation of the adjoining vertebrae was done...
December 17, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27977582/spine-malformation-complex-in-3-diverse-syndromic-entities-case-reports
#13
Ali Al Kaissi, Andreas van Egmond-Fröhlich, Sergey Ryabykh, Polina Ochirov, Vladimir Kenis, Jochen G Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
RATIONALE: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. PATIENTS CONCERNS: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27942940/growth-modulation-and-remodeling-by-means-of-posterior-tethering-technique-for-correction-of-early-onset-scoliosis-with-thoracolumbar-kyphosis
#14
Alaaeldin A Ahmad, Loai Aker, Yahia Hanbali, Aesha Sbaih, Zaher Nazzal
PURPOSE: The aim of this study is to evaluate the role of the non-fusion instrumented procedure with compression adjunct to lengthening by distraction in facilitating spinal modulation of the wedged peak vertebra, in patients with congenital thoracolumbar kyphosis/kyphoscoliosis according to the Hueter-Volkmann law. The authors seek to address the progressive modulation of the most wedged vertebra by analyzing the subjects' pre-operative and latest follow-up sagittal radiograph. METHODS: Ongoing data collection of 14 peak wedged vertebra modulation during surgical management of 13 patients with Type I congenital thoracolumbar kyphosis (5 patients) or kyphoscoliosis (8 patients)...
December 9, 2016: European Spine Journal
https://www.readbyqxmd.com/read/27942472/cutis-tricolor-a-literature-review-and-report-of-five-new-cases
#15
Martino Ruggieri, Agata Polizzi, Carmelo Schepis, Massimiliano Morano, Serena Strano, Giuseppe Belfiore, Stefano Palmucci, Pietro Valerio Foti, Concetta Pirrone, Mario Roggini, Emanule David, Vincenzo Salpietro, Pietro Milone
BACKGROUND: Cutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (Ruggieri-Happle syndrome, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata); and (IV) in association with other skin disturbances [e...
October 2016: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/27930594/revision-surgery-after-pregnancy-in-a-patient-with-congenital-kyphoscoliosis-a-case-report
#16
Zhikun Li, Fei Wang, Wei Xu, Yifan Li, Xiaodong Zhu
RATIONALE: Rod breakage during pregnancy and delivery has never been described in a patient who has undergone surgery for congenital scoliosis (CS). Here, we present an unusual but significant case of revision surgery. PATIENT CONCERNS: A 29-year-old woman presented with low back pain during pregnancy after posterior osteotomy, correction and fusion at T9 to L5 for CS. Radiographs during follow-up, 4 months after the patient gave birth, demonstrated rod breakage...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27927520/staged-anterior-release-and-posterior-instrumentation-in-correction-of%C3%A2-severe-rigid-scoliosis-cobb-angle-100-degrees
#17
Pankaj Kandwal, Ankur Goswami, G Vijayaraghavan, K R Subhash, Ashok Jaryal, B N Upendra, Arvind Jayaswal
PURPOSE: Severe rigid curves present a big challenge to the treating spine surgeon. We evaluated the outcome of staged anterior release and posterior instrumentation for rigid scoliosis. METHODS: Twenty-one patients with an average age of 14.4 years (range 11-17) having a rounded severe rigid scoliosis (Cobb angle >100 degrees) underwent surgical correction. Six patients had congenital scoliosis, 13 idiopathic scoliosis, and 2 syndromic. All patients underwent anterior release in Stage I with one or more Ponte osteotomies and in Stage II with all pedicle screw instrumentation, and 13 of the patients underwent an asymmetric pedicle subtraction osteotomy at the apex...
July 2016: Spine Deformity
https://www.readbyqxmd.com/read/27927516/preoperative-mrsa-screening-in-pediatric-spine-surgery-a-helpful-tool-or-a-waste-of-time-and-money
#18
Scott J Luhmann, June C Smith
OBJECTIVES: To review the use of preoperative screening for Staphylococcus aureus for all pediatric spine procedures that was instituted at our facility in a multimodal approach to decrease the frequency of postoperative wound infections. SUMMARY OF BACKGROUND DATA: Four years ago at our facility, a multimodal approach to decrease the frequency of postoperative infections after pediatric spine surgery was instituted. METHODS: A single-center, single-surgeon pediatric spine surgery database was queried to identify all patients who had preoperative S...
July 2016: Spine Deformity
https://www.readbyqxmd.com/read/27927490/results-of-the-scoliosis-research-society-morbidity-and-mortality-database-2009-2012-a-report-from-the-morbidity-and-mortality-committee
#19
Douglas C Burton, Brandon B Carlson, Howard M Place, Jonathan E Fuller, Kathy Blanke, Robert Cho, Kai-Ming Fu, Aruna Ganju, Robert Heary, Jose A Herrera-Soto, A Noelle Larson, William F Lavelle, Ian W Nelson, Alejo Vernengo-Lezica, Joseph M Verska
INTRODUCTION: Members of the Scoliosis Research Society are required to annually submit complication data regarding deaths, visual acuity loss, neurological deficit and infection (2012-1st year for this measure) for all deformity operations performed. The purpose of this study is to report the 2012 results and the differences in these complications from the years 2009-2012. METHODS: The SRS M&M database is a self-reported complications registry of deformity operations performed by the members...
September 2016: Spine Deformity
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#20
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
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