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Congenital scoliosis

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https://www.readbyqxmd.com/read/29159998/summary-of-the-first-inaugural-joint-meeting-of-the-international-consortium-for-scoliosis-genetics-and-the-international-consortium-for-vertebral-anomalies-and-scoliosis-march-16-18-2017-dallas-texas
#1
Philip F Giampietro, Olivier Pourquie, Cathy Raggio, Shiro Ikegawa, Peter D Turnpenny, Ryan Gray, Sally L Dunwoodie, Christina A Gurnett, Benjamin Alman, Kenneth Cheung, Kenro Kusumi, Nancy Hadley-Miller, Carol A Wise
Scoliosis represents the most common musculoskeletal disorder in children and affects approximately 3% of the world population. Scoliosis is separated into two major phenotypic classifications: congenital and idiopathic. Idiopathic scoliosis is defined as a curvature of the spine of 10° or greater visualized on plane radiograph and does not have associated vertebral malformations (VM). "Congenital" scoliosis (CS) due to malformations in vertebrae is frequently associated with other birth defects. Recently, significant advances have been made in understanding the genetic basis of both conditions...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29118959/congenital-myasthenic-syndrome-due-to-dok7-mutations-in-a-family-from-chile
#2
Jorge A Bevilacqua, Marian Lara, Jorge Díaz, Mario Campero, Jessica Vázquez, Ricardo A Maselli
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial and proximal limb weakness, and scoliosis since childhood. Another female sibling had milder signs, while other family members were asymptomatic. Facial nerve repetitive stimulation in the proband showed decrement of muscle responses. Single fiber EMG revealed increased jitter and blocking...
June 27, 2017: European Journal of Translational Myology
https://www.readbyqxmd.com/read/29097958/unresolved-congenital-torticollis-and-its-consequences-a-report-of-2-cases
#3
Mette Hobaek Siegenthaler
Objective: The purpose of this report was to describe the clinical presentation and case management of 2 children with congenital torticollis. Clinical Features: Two male children (ages 6 and 10 years) presented to a chiropractic clinic with a history of congenital torticollis. They showed signs and symptoms of postural deficiency and developmental delay: posterior plagiocephaly, facial scoliosis, head tilt, compensatory thoracic scoliosis, decreased range of motion in the cervical spine, palpable decreased segmental motion of the upper cervical spine, and an age-related delay in throwing and catching a ball and in one-leg standing...
September 2017: Journal of Chiropractic Medicine
https://www.readbyqxmd.com/read/29089675/horizontal-gaze-palsy-with-progressive-scoliosis-a-case-report
#4
P Shalini, Virna M Shah
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. It occurs due to mutation in ROBO 3 gene/chromosome 11q23-q25. We report a case of a 60-year-old lady who presented with complaints of defective vision in both eyes. On examination, she had scoliosis with restricted abduction and adduction in both eyes with intact elevation and depression...
July 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29069034/one-stage-posterior-excision-of-lumbosacral-hemivertebrae-retrospective-study-of-case-series-and-literature-review
#5
REVIEW
Yang Li, Guodong Wang, Zhensong Jiang, Xingang Cui, Tao Li, Xiaoyang Liu, Wen Zhang, Jianmin Sun
Lumbosacral hemivertebrae causes unique problems as early trunk decompensation and long compensatory curve above. There are only a few reports on it. This case series is a fair supplement in the literatures.To evaluate the clinical and radiological outcomes of lumbosacral hemivertebrae resection through 1-stage posterior approach.Between 2005 and 2014, a consecutive series of congenital scoliosis due to lumbosacral hemivertebrae underwent hemivertebrae excision through 1-stage posterior only approach. Demographic, operative, radiological, and quality of life data were reviewed...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29068803/anaphylaxis-to-surgiflo-during-posterior-spinal-fusion-in-an-adolescent-status-post-truncus-arteriosus-repair-a-case-report
#6
Ana Maria Manrique Espinel, Jeffrey M Feldman, Susan Nelson, Tatiana Smaliak, John M Flynn, Susan C Nicolson
Anaphylactic reaction to gelatin-containing hemostatic agents has been reported in the orthopedic literature, most commonly during scoliosis repair in adolescents. However, the risk, differential diagnosis, and management of anaphylaxis in patients with complex congenital heart disease undergoing noncardiac procedures have not been previously reported. We describe the case of an adolescent with a history of repaired truncus arteriosus undergoing posterior spinal fusion who developed sudden and profound hypotension that was ultimately confirmed to be an anaphylactic reaction to Surgiflo...
October 24, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/29063595/pulmonary-anatomy-and-a-case-of-unilateral-aplasia-in-a-common-snapping-turtle-chelydra-serpentina-developmental-perspectives-on-cryptodiran-lungs
#7
E R Schachner, J C Sedlmayr, R Schott, T R Lyson, R K Sanders, M Lambertz
The common snapping turtle (Chelydra serpentina) is a well studied and broadly distributed member of Testudines; however, very little is known concerning developmental anomalies and soft tissue pathologies of turtles and other reptiles. Here, we present an unusual case of unilateral pulmonary aplasia, asymmetrical carapacial kyphosis, and mild scoliosis in a live adult C. serpentina. The detailed three-dimensional (3D) anatomy of the respiratory system in both the pathological and normal adult C. serpentina, and a hatchling are visualized using computed tomography (CT), microCT, and 3D digital anatomical models...
December 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/29058584/radiographic-characteristics-in-congenital-scoliosis-associated-with-split-cord-malformation-a-retrospective-study-of-266-surgical-cases
#8
Fan Feng, Haining Tan, Xingye Li, Chong Chen, Zheng Li, Jianguo Zhang, Jianxiong Shen
BACKGROUND: Vertebrae, ribs, and spinal cord are anatomically adjacent structures, and their close relationships are clinically important for planning better corrective surgical approach. The objective is to identify the radiographic characteristics in surgical patients with congenital scoliosis (CS) and coexisting split cord malformation (SCM). METHODS: A total of 266 patients with CS and SCM underwent surgical treatment at our hospital between May 2000 and December 2015 was retrospectively identified...
October 23, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29052036/rapidly-increasing-incidence-in-scoliosis-surgery-over-14%C3%A2-years-in-a-nationwide-sample
#9
Johan von Heideken, Maura D Iversen, Paul Gerdhem
PURPOSE: Severe scoliosis is primarily managed with surgery. This cohort study describes the incidence of surgically treated scoliosis among Swedish youth and young adults, stratified by age, sex, scoliosis type, and surgical approach and identifies changes in incidence rate and hospital length of stay (LOS), infections requiring re-surgery and mortality within 90 days. METHODS: Swedish youth, 0-21 years, (n = 3062) with a diagnostic code for scoliosis and spine surgery between 2000 and 2013 were selected from the National Patient Register...
October 19, 2017: European Spine Journal
https://www.readbyqxmd.com/read/29051055/skeletal-impairment-in-pierson-syndrome-is-there-a-role-for-laminin%C3%AE-2-in-bone-physiology
#10
Camille Beaufils, Delphine Farlay, Irma Machuca-Gayet, Alice Fassier, Martin Zenker, Caroline Freychet, Edith Bonnelye, Aurélia Bertholet-Thomas, Bruno Ranchin, Justine Bacchetta
INTRODUCTION: Pierson syndrome is caused by a mutation of LAMB2, encoding for laminin β2. Clinical phenotype is variable but usually associates congenital nephrotic syndrome (CNS) and ocular abnormalities. Neuromuscular impairment has also been described. METHODS: We report on a 15-year old girl, suffering from Pierson Syndrome, who developed severe bone deformations during puberty. This patient initially displayed CNS and microcoria, leading to the clinical diagnosis of Pierson syndrome...
October 16, 2017: Bone
https://www.readbyqxmd.com/read/29049087/raising-mean-arterial-pressure-alone-restores-20-of-intraoperative-neuromonitoring-losses
#11
Joshua Yang, David L Skaggs, Priscella Chan, Suken A Shah, Michael G Vitale, Geraldine Neiss, Nicholas Feinberg, Lindsay M Andras
STUDY DESIGN: Multicenter prospective. OBJECTIVE: To assess the effect of intraoperative interventions in restoring intraoperative neuromonitoring (IONM) signals in pediatric spine surgery. SUMMARY OF BACKGROUND DATA: No prior studies have prospectively examined the rate of return of IONM signals by increasing blood pressure (BP) alone. METHODS: Patients undergoing posterior spinal deformity surgery were enrolled at their preoperative appointment...
October 18, 2017: Spine
https://www.readbyqxmd.com/read/29026581/hemivertebra-of-the-cervical-spine-an-uncommon-background-for-neck-pain-cervical-scoliosis-and-torticollis
#12
Stylianos Kapetanakis, Grigorios Gkasdaris, Evangelos Nastoulis, Vladimir Stavrev
A 15-year-old female patient presented with neck pain accompanied by cervical scoliosis, on the existence of torticollis. Although rare, hemivertebra of the cervical spine is a congenital deformation associated with these three clinical features.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29016431/incidence-of-congenital-spinal-abnormalities-among-pediatric-patients-and-their-association-with-scoliosis-and-systemic-anomalies
#13
Peter G Passias, Gregory W Poorman, Cyrus M Jalai, Bassel G Diebo, Shaleen Vira, Samantha R Horn, Joseph F Baker, Kartik Shenoy, Saqib Hasan, John Buza, Wesley Bronson, Justin C Paul, Ian Kaye, Norah A Foster, Ryan T Cassilly, Jonathan H Oren, Ronald Moskovich, Breton Line, Cheongeun Oh, Shay Bess, Virginie LaFage, Thomas J Errico
BACKGROUND: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. METHODS: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems...
October 9, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28965444/intraoperative-neuromonitoring-alerts-in-a-pediatric-deformity-center
#14
Maria Zuccaro, James Zuccaro, Amer F Samdani, Joshua M Pahys, Steven W Hwang
OBJECTIVE Intraoperative neuromonitoring (IONM) involves the use of somatosensory evoked potentials (SSEPs) and transcranial electric motor evoked potentials (TceMEPs). In this retrospective study the authors examined the sensitivity and specificity of both SSEPs and TceMEPs during pediatric spinal deformity surgeries. METHODS The authors performed a retrospective quantitative analysis of data obtained in 806 patients (197 males and 609 females) treated from December 2011 until October 2015. All patients were diagnosed with scoliosis that was classified as one of the following: adolescent idiopathic scoliosis (AIS) (38%), congenital scoliosis (22%), or syndromic scoliosis (40%)...
October 2017: Neurosurgical Focus
https://www.readbyqxmd.com/read/28955005/accurate-diagnosis-of-chronic-low-back-pain-in-a-high-level-college-athlete-a-case-report
#15
Kenji Yokoyama, Kazuta Yamashita, Masatoshi Morimoto, Fumitake Tezuka, Fumio Hayashi, Yoichiro Takata, Toshinori Sakai, Kosaku Higashino, Takashi Chikawa, Hiroshi Yonezu, Akihiro Nagamachi, Koichi Sairyo
A 21-year-old woman who was high-level college softball player presented with a 6-month history of low back pain that had been treated unsuccessfully by medication at local clinics. There was tenderness in the left paravertebral muscle at the lower lumbar level. X-ray and computed tomography revealed congenital scoliosis and an L6 hemivertebra. Short tau inversion recovery magnetic resonance imaging showed a fluid collection at the left L6-S1 facet joint. We performed a diagnostic facet injection, consisting of 1% lidocaine and steroids, that was infiltrated into the left facet joint at L6-S1...
2017: Journal of Medical Investigation: JMI
https://www.readbyqxmd.com/read/28944995/comparative-analysis-of-serum-proteome-in-congenital-scoliosis-patients-with-tbx6-haploinsufficiency-a-first-report-pointing-to-lipid-metabolism
#16
Qiankun Zhu, Nan Wu, Gang Liu, Yangzhong Zhou, Sen Liu, Jun Chen, Jiaqi Liu, Yuzhi Zuo, Zhenlei Liu, Weisheng Chen, Yixin Chen, Jia Chen, Mao Lin, Yanxue Zhao, Yang Yang, Shensgru Wang, Xu Yang, Yufen Ma, Jian Wang, Xiaoli Chen, Jianguo Zhang, Jianxiong Shen, Zhihong Wu, Guixing Qiu
Congenital scoliosis (CS) is a three-dimensional deformity of the spine affecting quality of life. We have demonstrated TBX6 haploinsufficiency is the most important contributor to CS. However, the pathophysiology at the protein level remains unclear. Therefore, this study was to explore the differential proteome in serum of CS patients with TBX6 haploinsufficiency. Sera from nine CS patients with TBX6 haploinsufficiency and nine age- and gender-matched healthy controls were collected and analysed by isobaric tagged relative and absolute quantification (iTRAQ) labelling coupled with mass spectrometry (MS)...
September 25, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28934336/the-oldest-record-of-aquatic-amniote-congenital-scoliosis
#17
Tomasz Szczygielski, Dawid Surmik, Agnieszka Kapuścińska, Bruce M Rothschild
We report the first occurrence of congenital scoliosis in an early Permian aquatic parareptile, Stereosternum tumidum from Paraná state, Brazil. The spine malformation is caused by a congenital hemivertebra. These observations give insight into the biomechanical aspects of underwater locomotion in an axial skeleton-compromised aquatic amniote. This is the oldest record of a hemivertebra in an aquatic animal.
2017: PloS One
https://www.readbyqxmd.com/read/28918465/congenital-lumbar-kyphosis-with-skin-ulceration-and-osteomyelitis-in-a-myelomeningocele-child-a-case-report
#18
Benoit Vibert, Marco Turati, Pierre-Yves Rabattu, Marco Bigoni, Ahmad Eid, Aurélien Courvoisier
INTRODUCTION: Kyphosis is a frequent problem in children with spina bifida, and this deformity may cause different complications as respiratory insufficiency, bowel dysfunction, and skin ulcers. CASE REPORT: We report on a 13-year-old myelomeningocele male with a lumbar kyphoscoliosis associated to a septic skin ulceration that resulted in an acute sepsis. An X-ray revealed a kyphosis of 110° and a scoliosis of 25° between T9 and L5. The wound and blood cultures showed Staphylococcus aureus colonization, and an appropriate antibiotic therapy was started...
September 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28885330/fractional-curve-progression-with-maintenance-of-fusion-mass-in-congenital-scoliosis-an-18-year-follow-up-of-a-case-report
#19
Dong-Gune Chang, Jae Hyuk Yang, Se-Il Suk, Seung-Woo Suh, Jin-Hyok Kim, Seung-Joo Lee, Ki-Ho Na, Jung-Hee Lee
RATIONALE: The management of congenital scoliosis concentrates on early diagnosis and proper surgical treatment before the development of severe deformities. Decision making regarding the appropriate fusion levels, proper surgical treatment, and reduction amount of kyphoscoliosis is very important but difficult in the treatment of congenital scoliosis, especially in young children. PATIENT CONCERNS: We report an 11-year follow-up of revision surgery for fractional curve progression after combined anterior and posterior fusion without hemivertebra resection using pedicle screw fixation (PSF) in congenital kyphoscoliosis at age 4 years (a total 18-year follow-up)...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28885124/thoracic-spinal-cord-impingement-by-an-arachnoid-web-at-the-level-of-a-hemivertebra-case-report
#20
Molly E Hubbard, Matthew A Hunt, Kristen E Jones, David W Polly
Congenital scoliosis due to a hemivertebra requires surgical stabilization prior to skeletal maturity if rapidly progressive curve growth occurs. Here the authors present the unique case of a man who, at the age of 12 years, had undergone Harrington rod placement for stabilization of progressive congenital scoliosis due to a T-11 hemivertebra and then, at the age of 53 years, presented with acutely progressive myelopathy due to spinal cord compression from an arachnoid web at T-11 despite a solid fusion mass at the prior surgical site...
September 8, 2017: Journal of Neurosurgery. Spine
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