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https://www.readbyqxmd.com/read/28411391/phenotypic-expression-of-19q13-32-microdeletions-report-of-a-new-patient-and-review-of-the-literature
#1
Laura Travan, Samuele Naviglio, Angela De Cunto, Andrea Pellegrin, Vanna Pecile, Alessandro Mauro Spinelli, Stefania Cappellani, Flavio Faletra
The phenotypic manifestations of microdeletions in the 19q13.32 region are still poorly known. In this paper we report a patient who presented with hypotonia, developmental delay, facial dysmorphism, micrognathia, kyphoscoliosis, and buried penis. Chromosomal microarray revealed an interstitial 327 kb de novo microdeletion in the 19q13.32 region comprising eight genes (ARGHAP35, NPAS1, TMEM160, ZC3H4, SAE1, BBC3, MIR3190, and MIR3191). Previously reported cases of microdeletions in the 19q13.32 region were reviewed and compared to our patient, highlighting the common features of a possible 19q13...
April 14, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28364333/the-effect-from-different-numbers-of-segmental-arteries-ligation-to-the-spinal-cord-in-the-clinical-practice-of-posterior-vertebral-column-resection-correction
#2
Zhi Zhao, Jingming Xie, Yingsong Wang, Ni Bi, Tao Li, Ying Zhang, Zhiyue Shi
PURPOSE: In using posterior vertebral column resection (PVCR) to treat severe kyphoscoliosis, it is unavoidable to ligate and cut off several segmental arteries (SAs) of the spinal cord for exposure and hemostasis, but which would raise the neurological risks. The aim of this study is to explore the changes of intraoperative spinal cord monitoring (IOM) following ligating different numbers of SAs in PVCR. METHODS: Twenty-one consecutive patients with severe kyphoscoliosis were included and treated by PVCR correction...
March 31, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28346368/pathophysiological-significance-of-dermatan-sulfate-proteoglycans-revealed-by-human-genetic-disorders
#3
REVIEW
Shuji Mizumoto, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara
The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor-β, respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity...
March 27, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28343240/childhood-angular-kyphosis-a-plea-for-involvement-of-the-pediatric-neurosurgeon
#4
E Cornips, S Koudijs, J Vles, L van Rhijn
INTRODUCTION: Childhood angular kyphosis is rare, as most children are affected by a mixed kyphotic and scoliotic deformity. Published series involving a mix of kyphosis and kyphoscoliosis, pediatric and adult, congenital and acquired cases are almost exclusively authored by orthopedic surgeons, suggesting that (pediatric) neurosurgeons are not involved. CASE SERIES: We present five cases that illustrate the spectrum of angular kyphosis, and these were treated by a multidisciplinary team including child neurologist, orthopedic surgeon, and pediatric neurosurgeon as complementary partners...
March 25, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28331905/asymmetrical-pedicle-subtraction-osteotomy-for-progressive-kyphoscoliosis-caused-by-a-pediatric-chance-fracture-a-case-report
#5
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
#6
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
#7
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 18, 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
#8
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
#9
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...
April 5, 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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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