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kyphoscoliosis

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https://www.readbyqxmd.com/read/28331905/asymmetrical-pedicle-subtraction-osteotomy-for-progressive-kyphoscoliosis-caused-by-a-pediatric-chance-fracture-a-case-report
#1
Satoshi Suzuki, Nobuyuki Fujita, Tomohiro Hikata, Akio Iwanami, Ken Ishii, Masaya Nakamura, Morio Matsumoto, Kota Watanabe
BACKGROUND: Although most pediatric Chance fractures (PCFs) can be treated successfully with casting and bracing, some PCFs cause progressive spinal deformities requiring surgical treatment. There are only few reports of asymmetrical osteotomy for PCF-associated spinal deformities. CASE PRESENTATION: We here report a case of a 10-year-old girl who suffered an L2 Chance fracture from an asymmetrical flexion-distraction force, accompanied by abdominal injuries. She was treated conservatively with a soft brace...
2017: Scoliosis and Spinal Disorders
https://www.readbyqxmd.com/read/28331220/identification-of-biallelic-extl3-mutations-in-a-novel-type-of-spondylo-epi-metaphyseal-dysplasia
#2
Long Guo, Nursel H Elcioglu, Shuji Mizumoto, Zheng Wang, Bilge Noyan, Hatice M Albayrak, Shuhei Yamada, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura, Shiro Ikegawa
Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with severe platyspondyly, kyphoscoliosis, pelvic distortion, constriction of the proximal femora and brachydactyly. Although these phenotypes overlap considerably with some known SEMDs, they had a novel causal gene, exostosin-like glycosyltransferase 3 (EXTL3), that encodes a glycosyltransferase involved in the synthesis of heparin and heparan sulfate...
March 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28323226/herc1-mutations-in-idiopathic-intellectual-disability
#3
G Eda Utine, Ekim Z Taşkıran, Can Koşukcu, Beren Karaosmanoğlu, Naz Güleray, Özlem Akgün Doğan, P Özlem Şimşek Kiper, Koray Boduroğlu, Mehmet Alikaşifoğlu
HERC1 is a member of HERC protein family of ubiquitin ligases and is a negative regulator of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab family GTPases. Biallelic mutations in HERC1 were recently shown to cause a human phenotype with overgrowth and intellectual disability as main features. Herein we describe clinical features in another patient with homozygous novel mutation in HERC1. Moderate to severe intellectual disability, hypotonia, macrocephaly, tall stature, and facial features appear as main clinical features of the condition...
March 16, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28303383/surgical-management-of-coronal-and-sagittal-imbalance-of-the-spine-without-pso-a-multicentric-cohort-study-on-compensated-adult-degenerative-deformities
#4
Alessandro Ramieri, Massimo Miscusi, Maurizio Domenicucci, Antonino Raco, Giuseppe Costanzo
PURPOSE: Sagittal imbalance of severe adult degenerative deformities requires surgical correction to improve pain, mobility and quality of life. Our aim was a harmonic and balanced spine, treating a series of adult degenerative thoracolumbar and lumbar kyphoscoliosis by a non posterior subtraction osteotomy technique. METHODS: We operated 22 painful thoracolumbar and lumbar compensated degenerative deformities by anterior (ALIF), extreme lateral (XLIF) and transforaminal (TLIF) interbody fusion and grade 2 osteotomy (SPO) to restore lumbar lordosis and mobilize the coronal curve...
March 16, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28284983/systemic-aav-mediated-%C3%AE-sarcoglycan-delivery-targeting-cardiac-and-skeletal-muscle-ameliorates-histological-and-functional-deficits-in-lgmd2e-mice
#5
Eric R Pozsgai, Danielle A Griffin, Kristin N Heller, Jerry R Mendell, Louise R Rodino-Klapac
Limb-girdle muscular dystrophy type 2E (LGMD2E), resulting from mutations in β-sarcoglycan (SGCB), is a progressive dystrophy with deteriorating muscle function, respiratory failure, and cardiomyopathy in 50% or more of LGMD2E patients. SGCB knockout mice share many of the phenotypic deficiencies of LGMD2E patients. To investigate systemic SGCB gene transfer to treat skeletal and cardiac muscle deficits, we designed a self-complementary AAVrh74 vector containing a codon-optimized human SGCB transgene driven by a muscle-specific promoter...
March 8, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28283771/non-invasive-ventilation-for-acute-hypercapnic-respiratory-failure-in-older-patients
#6
Fatma Çiftci, Aydın Çiledağ, Serhat Erol, Akın Kaya
BACKGROUND: This trial was conducted to carry out an age and etiology-based analysis of the clinical efficacy of non-invasive ventilation (NIV) in acute hypercapnic respiratory failure (AHRF). METHODS: This single center, prospective, cohort study included patients aged ≥65 years with chronic obstructive pulmonary disease (COPD), acute cardiogenic pulmonary edema (ACPE), community-acquired pneumonia (CAP), bronchiectasis, and kyphoscoliosis, who were treated with NIV for AHRF in the intensive care unit within a 4-year period...
March 10, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28243591/transcranial-motor-evoked-potentials-during-spinal-deformity-corrections-safety-efficacy-limitations-and-the-role-of-a-checklist
#7
Shankar Acharya, Nagendra Palukuri, Pravin Gupta, Manish Kohli
INTRODUCTION: Intraoperative neuromonitoring (IONM) has become a standard of care in spinal deformity surgeries to minimize the incidence of new onset neurological deficit. Stagnara wake up test and ankle clonus test are the oldest techniques described for spinal cord monitoring, but they cannot be solely relied upon as a neuromonitoring modality. Somatosensory evoked potentials monitor only dorsal tracts and give high false positive and negative alerts. Transcranial motor evoked potentials (TcMEPs) monitor the more useful motor pathways...
2017: Frontiers in Surgery
https://www.readbyqxmd.com/read/28241718/-causal-analysis-and-management-strategies-of-30-day-unplanned-revision-surgery-following-single-stage-posterior-vertebral-column-resection-for-severe-spinal-deformity
#8
Y P Tao, J G Wu, H S Ma, S L Shao, L L Zhang, B Gao, H X Li
Objective: To investigate the causes of 30-day unplanned revision surgery following one-stage posterior vertebral column resection (PVCR) for severe spinal deformity and the methods of prevention and management. Methods: A total of 112 severe deformity patients underwent one-stage PVCR for surgical treatment in the 306(th) Hospital of People's Liberation Army from May 2010 to December 2015 were retrospectively reviewed. Six patients required reoperation within 30 days after PVCR, including 2 males and 4 females with average age of 21 years (ranging from 12 to 38 years)...
March 1, 2017: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/28216760/vanishing-bone-disease-of-chest-wall-and-spine-with-kyphoscoliosis-and-neurological-deficit-a-case-report-and-review-of-literature
#9
Sudhir Kumar Srivastava, Rishi Anil Aggarwal, Pradip Sharad Nemade, Sunil Krishna Bhoale
Vanishing bone disease is an extremely rare disorder of unknown etiology characterized by idiopathic osteolysis of bone. We describe a case of vanishing bone disease of chest wall and spine with kyphoscoliosis and neurological deficit. A 17-year-old male presented with gradually progressive deformity of back and dorsal compressive myelopathy with nonambulatory power in lower limbs. Radiographs revealed absent 4(th)-7(th) ribs on the right side with dorsal kyphoscoliosis and severe canal narrowing at the apex...
January 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/28210329/respiratory-illness-in-children-with-disability-a-serious-problem
#10
REVIEW
Marijke Proesmans
KEY POINTS: Children with neurocognitive impairment often present with chronic or recurrent respiratory problems.The respiratory problems have an important impact on quality of life and life expectancy.The underlying causes are multiple: risk of aspiration, insufficient cough, upper airway obstruction and progressive kyphoscoliosis.There is often a complex interplay between these known risk factors.The diagnostic and therapeutic approach should be multidisciplinary. EDUCATIONAL AIMS: To provide data on the prevalence of respiratory problems in children with disability and to increase awareness on this topic...
December 2016: Breathe
https://www.readbyqxmd.com/read/28208954/effect-of-surgical-curve-correction-on-exercise-tolerance-and-physical-capacities-in-patients-of-severe-spinal-deformity
#11
Prateek C Patil, Ashok K Rathod, Mandar Borde, Vishwajeet Singh, Hemant U Singh
INTRODUCTION: Traditionally, surgical intervention for patients with a spinal deformity has been considered for cosmetic benefits, but surgical intervention can alter the lung physiology or volumes and in turn leads to increase in physical capacity and exercise tolerance. Therefore, we conducted this to determine whether a surgical correction would restore the lung physiology, physical capacity and exercise tolerance in patients with kyphoscoliosis. AIM: To evaluate the usage of six-minute walk test scores and modified Borg scores as tools/measures for exercise tolerance in patients with spinal deformity and to study the effects of surgical correction of spinal deformity on exercise tolerance with above parameters as the measures...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28204731/hf10-therapy-for-chronic-back-pain-in-patients-with-nonoperated-kyphoscoliosis-the-importance-of-preoperative-assessment
#12
Maarten Moens, Ann De Smedt, Lisa Goudman, Peter Mariën, Jo Nijs, Patrick Herregodts, Raf Brouns
No abstract text is available yet for this article.
February 1, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28193137/risk-factors-for-adjacent-segment-degeneration-after-iliac-screw-fixation-in-lumbar-degenerative-kyphoscoliosis
#13
Sang-Il Kim, Kee-Yong Ha, Dong-Whan Suh, In-Soo Oh
PURPOSE: To analyze pre- and postoperative spinopelvic parameters and sagittal profiles in lumbar degenerative kyphoscoliosis (LDK) patients who underwent surgery using iliac screw (IS) and the incidence and risk factor of radiological adjacent segment degeneration (ASD). METHODS: A total of 32 patients, who had undergone surgical correction and lumbar/thoracolumbar fusion with pedicle screws and IS instrumentation for LDK with a minimum 2-year follow-up, were included...
January 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28192267/posterior-only-vertebral-column-resection-for-the-treatment-of-severe-spinal-deformities-in-pediatric-patients-a-retrospective-case-series
#14
Malte Schroeder, Lennart Viezens, Philip Kunkel, Karsten Ridderbusch, Tim Nicolas Hissnauer, Oliver Dirk Jungesblut, Michael Hoffmann, Johannes Maria Rueger, Ralf Stuecker
OBJECTIVE: The treatment of severe spinal deformities in pediatric patients is very challenging. Posterior only vertebral column resection (PVCR) allows for correcting of severe deformities of the vertebral column via a posterior only procedure. We analyzed radiological outcome of PVCR performed on a series of pediatric patients with severe congenital and acquired spinal deformities. METHODS: A case series of eleven pediatric patients with severe spinal deformity who were treated by PVCR between 2009 and 2013 were retrospectively analyzed...
February 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28167615/the-familial-dysautonomia-disease-gene-ikbkap-elp1-is-required-in-the-developing-and-adult-central-nervous-system
#15
Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A Michael Babcock, George A Carlson, Frances Lefcort
Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction. HSAN Type III, Familial Dysautonomia (FD), results from a single base mutation in the gene IKBKAP that encodes a scaffolding unit for a multi-subunit complex Elongator. Since mutations in other Elongator subunits (ELP2-4) are associated with central nervous system (CNS) disorders, the goal of this study was to investigate a potential CNS requirement for Ikbkap/Elp1 The sensory and autonomic pathophysiology of FD is fatal, with the majority of patients dying by age 40...
February 6, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28094603/lethal-mechanisms-in-gastric-volvulus
#16
Kimberley J Omond, Roger W Byard
A 55-year-old wheelchair-bound woman with severe cerebral palsy was found at autopsy to have marked distention of the stomach due to a volvulus. The stomach was viable, and filled with air and fluid and had pushed the left dome of the diaphragm upwards causing marked compression of the left lung with a mediastinal shift to the right (including the heart). There was no evidence of gastric perforation, ischaemic necrosis or peritonitis. Removal of the organ block revealed marked kyphoscoliosis. Histology confirmed the viability of the stomach and biochemistry showed no dehydration...
January 1, 2017: Medicine, Science, and the Law
https://www.readbyqxmd.com/read/28089323/neurophysiological-monitoring-of-lumbar-spinal-nerve-roots-a-case-report-of-postoperative-deficit-and-literature-review
#17
Yuguang Chen, Baoqing P Wang, Junlin Yang, Yaolong Deng
INTRODUCTION: Intraoperative neurophysiological monitoring (IONM) has proven to help reduce the probability of postoperative neurological deficit for spinal deformity correctional surgeries. However, in rare cases new deficits may still happen. We report a surgical case in which the patient had postoperative paralysis. We would like to call for more case reports with postoperative neurological deficits as they present difficult clinical cases. PRESENTATION OF CASE: A 61-year-old male patient with severe thoracolumbar kyphoscoliosis underwent posterior spinal correction and fusion with segmental T10-L5 pedicle screws and rods instrumentation with IONM...
November 19, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28045856/a-multiparametric-alarm-criterion-for-motor-evoked-potential-monitoring-during-spine-deformity-surgery
#18
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/28011632/a-developmental-transcriptomic-analysis-of-pax1-and-pax9-in-embryonic-intervertebral-disc-development
#19
V Sivakamasundari, Petra Kraus, Wenjie Sun, Xiaoming Hu, Siew Lan Lim, Shyam Prabhakar, Thomas Lufkin
Pax1 and Pax9 play redundant, synergistic functions in the patterning and differentiation of the sclerotomal cells that give rise to the vertebral bodies and intervertebral discs (IVD) of the axial skeleton. They are conserved in mice and humans, whereby mutation/deficiency of human PAX1/PAX9 has been associated with kyphoscoliosis. By combining cell-type-specific transcriptome and ChIP-sequencing data, we identified the roles of Pax1/Pax9 in cell proliferation, cartilage development and collagen fibrillogenesis, which are vital in early IVD morphogenesis...
February 15, 2017: Biology Open
https://www.readbyqxmd.com/read/27979613/mucopolysaccharidosis-iva-and-glycosaminoglycans
#20
REVIEW
Shaukat Khan, Carlos J Alméciga-Díaz, Kazuki Sawamoto, William G Mackenzie, Mary C Theroux, Christian Pizarro, Robert W Mason, Tadao Orii, Shunji Tomatsu
Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS). C6S and KS are mainly produced in the cartilage. Therefore, the undegraded substrates are stored primarily in cartilage and in its extracellular matrix (ECM), leading to a direct impact on cartilage and bone development, and successive systemic skeletal dysplasia...
January 2017: Molecular Genetics and Metabolism
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