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Congenital scoliosis

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https://www.readbyqxmd.com/read/29310355/revision-surgery-for-lumbar-hemivertebra-in-a-7-year-old-child-with-10-year-follow-up-a-case-report-a-care-compliant-article
#1
Xuhong Xue, Sheng Zhao
RATIONALE: Hemivertebrae, which are the most frequent cause of congenital scoliosis, pose a challenge in terms of prognosis and therapy. The current gold standard treatment congenital scoliosis due to a lumbar and thoracic hemivertebra would be hemivertebra resection and short level posterior spinal fusion. Paucity literatures are reported for the treatment of hemivertebra by convex fusion with posterior hemivertebra excision. PATIENT CONCERNS: The patient was first noticed to have a spinal problem at 7 years of age...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29302380/a-case-of-fatal-pulmonary-hypoplasia-with-congenital-diaphragmatic-hernia-thoracic-myelomeningocele-and-thoracic-dysplasia
#2
Ai Ito, Hideshi Fujinaga, Sachiko Matsui, Kumiko Tago, Yuka Iwasaki, Shuhei Fujino, Junko Nagasawa, Shoichiro Amari, Masao Kaneshige, Yuka Wada, Shigehiro Takahashi, Keiko Tsukamoto, Osamu Miyazaki, Takako Yoshioka, Akira Ishiguro, Yushi Ito
Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care...
October 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29287816/comparison-of-percentile-weight-gain-of-growth-friendly-constructs-in-early-onset-scoliosis
#3
Liam R Harris, Lindsay M Andras, Paul D Sponseller, Charles E Johnston, John B Emans, David L Skaggs
STUDY DESIGN: Multicenter retrospective cohort. OBJECTIVE: To compare improvement in nutritional status seen in early-onset scoliosis (EOS) patients following treatment with various growth-friendly techniques, especially in underweight patients (<20th weight percentile). BACKGROUND: Thoracic insufficiency resulting from EOS can lead to severe cardiopulmonary disease. In this age group, pulmonary function tests are often difficult or impossible to perform...
January 2018: Spine Deformity
https://www.readbyqxmd.com/read/29285106/pediatric-chiari-malformation-type-i-long-term-outcomes-following-small-bone-window-posterior-fossa-decompression-with-autologous-fascia-duraplasty
#4
Hai Liu, Chenlong Yang, Jun Yang, Yulun Xu
Chiari malformation type I (CM-I) is a common hindbrain disorder that is associated with deformity and elongation of the cerebellar tonsils. Although CM-I occurs in both pediatric and adult patients, its prevalence, clinical features and management in the pediatric population are not well defined. The current study evaluated a consecutive case series of 92 children (38 females and 54 males) who were diagnosed with congenital CM-I. All patients underwent small-bone-window posterior fossa decompression with autologous-fascia duraplasty...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29246930/congenital-scoliosis-an-anomalous-association-with-endosulfan
#5
Jayakrishnan Kelamangalathu Narayana Kurup, Simanchal P Mohanty
Endosulfan is an organochlorine pesticide that is used extensively across the world to kill insects. Incidence of acute and chronic toxicity with endosulfan poisoning has been reported, and nearly 80 countries have banned its use. However, it is still being used in many low-income/middle-income countries. One of the most severe tragedies because of endosulfan poisoning has taken place in the Indian state of Kerala due to persistent aerial spraying of endosulfan. Even though there are reports of skeletal and other congenital abnormalities in humans and experimental animals following exposure to endosulfan, very few have been documented...
December 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29241108/the-efficacy-of-posterior-hemivertebra-resection-with-lumbosacral-fixation-and-fusion-in-the-treatment-of-congenital-scoliosis-a-more-than-2-year-follow-up-study
#6
Qiunan Lyu, Bowen Hu, Chunguang Zhou, Limin Liu, Yueming Song, Xi Yang, Liang Wang, Lei Wang
OBJECTIVE: Hemivertebrae (HV) located at the lower lumbar or lumbosacral region often produce early trunk imbalance and long compensatory curves. Because of the biomechanical characteristics of the lumbosacral junction, the rate of instrumentation failures at the region has always been high. Our study aimed to evaluate the results of posterior HV resection with lumbosacral fixation and fusion in the treatment of congenital scoliosis and to make a preliminary analysis of the possible risk factors for instrument failures...
December 9, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29227363/psychosocial-factors-and-surgical-outcomes-in-adult-spinal-deformity-do-dementia-patients-have-more-complications
#7
Courtney S Toombs, Justin C Paul, Baron S Lonner
STUDY DESIGN: Retrospective analysis of a prospectively collected, national inpatient hospital database. OBJECTIVE: We aimed to investigate comorbid psychiatric disorders in the ASD population. We hypothesized that a high incidence of comorbid psychiatric disorders in ASD would negatively impact perioperative outcomes. SUMMARY OF BACKGROUND DATA: Adult spinal fusion (ASF) patients suffer from severe back pain and often depression. Psychiatric comorbidities in the adult spinal deformity (ASD) population are not well understood, despite the apparent psychological effects of spinal deformity-related self-image...
December 8, 2017: Spine
https://www.readbyqxmd.com/read/29196274/neuromuscular-diseases-diagnosis-and-management
#8
REVIEW
P Mary, L Servais, R Vialle
Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe walking) or deformity (e.g., pes cavus or scoliosis) suggesting a need for orthopaedic attention or because orthopaedic abnormalities requiring treatment develop during the course of a known NMD...
November 28, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29177700/novel-mutations-in-plod2-cause-rare-bruck-syndrome
#9
Fang Lv, Xiaojie Xu, Yuwen Song, Lujiao Li, Asan, Jian Wang, Huanming Yang, Ou Wang, Yan Jiang, Weibo Xia, Xiaoping Xing, Mei Li
Bruck syndrome is a rare autosomal recessive form of osteogenesis imperfecta (OI), which is mainly characterized by joint contractures and recurrent fragility fractures. Mutations in FKBP10 and PLOD2 were identified as the underlying genetic defects of Bruck syndrome. Here we investigated the phenotypes and the pathogenic mutations of three unrelated Chinese patients with Bruck syndrome. Clinical fractures, bone mineral density (BMD), bone turnover biomarkers, and skeletal images were evaluated in detail. The pathogenic mutations were identified by targeted next-generation sequencing and subsequently confirmed by Sanger sequencing and cosegregation analysis...
November 24, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29170849/myh7-mutation-associated-with-two-phenotypes-of-myopathy
#10
Nan Li, Zhe Zhao, Hongrui Shen, Qi Bing, Xuan Guo, Jing Hu
The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD). Here we report two cases whose diagnosis was hereditary myopathy according to clinical feature and muscle pathology analysis. High-throughput genomic sequencing (next generation sequencing) was performed to validate the diagnosis...
November 24, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29169929/compound-heterozygous-ryr1-mutations-in-a-preterm-with-arthrogryposis-multiplex-congenita-and-prenatal-cns-bleeding
#11
Florian Brackmann, Matthias Türk, Nils Gratzki, Oliver Rompel, Heinz Jungbluth, Rolf Schröder, Regina Trollmann
RYR1 mutations, the most common cause of non-dystrophic neuromuscular disorders, are associated with the malignant hyperthermia susceptibility (MHS) trait as well as congenital myopathies with widely variable clinical and histopathological manifestations. Recently, bleeding anomalies have been reported in association with certain RYR1 mutations. Here we report a preterm infant born at 32 weeks gestation with arthrogryposis multiplex congenita due to compound heterozygous, previously MHS-associated RYR1 mutations, with additional signs of prenatal hemorrhage...
September 28, 2017: Neuromuscular Disorders: NMD
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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