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Congenital scoliosis

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https://www.readbyqxmd.com/read/28633648/radiologic-comparison-of-posterior-release-internal-distraction-final-pso-and-spinal-fusion-with-one-stage-posterior-vertebral-column-resection-for-multi-level-severe-congenital-scoliosis
#1
Shichang Liu, Nannan Zhang, Yueming Song, Zongrang Song, Liping Zhang, Jijun Liu, En Xie, Qining Wu, Dingjun Hao
BACKGROUND: To compare radiologic results of posterior release, internal distraction, and final pedicle subtraction osteotomy (PSO) and spinal fusionwith one-stage posterior vertebral column resection (PVCR) in treating multi-level severe congenital scoliosis. METHODS: Forty-onesevere congenital scoliosis patients were used in the study. Group A comprised 24 patients who underwent one-stage PVCR. Group B comprised 17 patients who underwent posterior release with internal distraction, followed by final posterior fusion and instrumentation...
June 20, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28614287/nasal-swab-screening-for-staphylococcus-aureus-in-spinal-deformity-patients-treated-with-growing-rods
#2
Scott J Luhmann, June C Smith
BACKGROUND: Surgical-site infections are one of the most concerning complications in patients treated with growing rods (GR). The purpose of this study was to evaluate the use of preoperative screening for Staphylococcus aureus (SA) for all growing spine procedures, and if this would permit alteration of prophylactic antibiotics to cover the identified resistances. METHODS: All patients were identified who had SA screening during the course of GR treatment. In otal, 34 patients [23 neuromuscular (NMS), 4 congenital, 4 idiopathic scoliosis (IS), and 3 syndromic] were identified who had 111 preoperative screenings [79 lengthenings, 23 insertions, 6 revisions, and 3 conversions to posterior spinal fusions (PSF)]...
June 13, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28612981/congenital-telangiectatic-und-pigmented-lesions-associated-with-lymphedema-difference-in-leg-length-and-scoliosis
#3
Patricia Convalexius, Thomas A Luger, Markus Böhm
No abstract text is available yet for this article.
June 14, 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28603565/current-concepts-congenital-scoliosis
#4
Agnivesh Tikoo, Manish K Kothari, Kunal Shah, Abhay Nene
BACKGROUND: Congenital scoliosis is one of the 'difficult to treat' scenarios which a spine surgeon has to face. Multiple factors including the age of child at presentation, no definite pattern of deformity and associated anomalies hinder the execution of the ideal treatment plan. All patients of congenital scoliosis need to be investigated in detail. X rays and MRI of spine is usually ordered first. Screening investigations to rule out VACTERL (Visceral, Anorectal, Cardiac, Tracheo-esophageal fistula, Renal and Lung) abnormalities are required...
2017: Open Orthopaedics Journal
https://www.readbyqxmd.com/read/28594523/congenital-scoliosis-a-case-based-approach
#5
Frances A Farley, Laurel C Blakemore
Congenital scoliosis is lateral curvature of the spine caused by vertebral anomalies. Congenital scoliosis is associated with congenital anomalies of other organ systems. Traditionally, treatment options for patients with congenital scoliosis focused on posterior spinal fusion. Current surgical treatment options for young children include growing rods, vertical expandable prosthetic titanium ribs, and, most recently, magnetic rods. Hemivertebrae resection is an important early treatment option for patients who have a hemivertebra...
February 15, 2017: Instructional Course Lectures
https://www.readbyqxmd.com/read/28593385/tailor-made-management-of-thoracic-scoliosis-with-cervical-hyperextension-in-muscular-dystrophy
#6
A Angelliaume, L Harper, A Lalioui, A Delgove, Y Lefèvre
PURPOSE: We report the case of a 13-year-old boy managed for fixed cervical hyperextension due to congenital muscular dystrophy with partial merosin deficiency. He presented a right decompensated thoracic scoliosis (T6-L1 Cobb angle 72°) associated with cervical and lumbar lordosis. The spinal extension was accompanied by major flexion of the hip resulting in the trunk being bent forward. This posture caused daily severe back pain responsible for significant loss of quality of life. This led to the decision to perform surgery...
June 7, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28565896/effects-of-magnetically-controlled-growing-rods-surgery-on-pulmonary-function-in-young-subjects-with-spinal-muscular-atrophy-type-2-and-other-neuromuscular-scoliosis
#7
Luca Colombo, Carlotta Martini, Chiara Bersanini, Francesca Izzo, Jorge H Villafañe, Pedro Berjano, Claudio Lamartina
BACKGROUND: The aim of this study was to determine the effects of magnetically controlled growing rods surgery (MCGRS) of the scoliosis on pulmonary function in children with neuromuscular scoliosis. METHODS: Seven patients, 85.7% female (mean ± SD age: 6.7±1.2 years), with neuromuscular scoliosis (4 SMA II, 2 congenital myopathies and 1 VACTER syndrome), received MCGRS of the spine in the thoraco-lumbar area. The outcome measures were clinical features and pulmonary function (forced vital capacity [FVC] and forced expiratory volume in 1st second [FEV1], were collected...
May 31, 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/28560466/real-life-effectiveness-of-spa-therapy-in-rheumatic-and-musculoskeletal-diseases-a-retrospective-study-of-819-patients
#8
Mine Karagülle, Sinan Kardeş, Müfit Zeki Karagülle
The objective of this study is to determine the use and efficacy of spa therapy in patients with a wide spectrum of rheumatic and musculoskeletal diseases under real-life clinical practice circumstances. In this retrospective observational study at the Medical Ecology and Hydroclimatology Department of Istanbul Faculty of Medicine, the records of all adult patients with rheumatic and musculoskeletal diseases who were prescribed a spa therapy in various health resorts in Turkey between 2002 and 2012 were analyzed...
May 30, 2017: International Journal of Biometeorology
https://www.readbyqxmd.com/read/28557818/posterior-only-hemivertebra-resection-with-anterior-structural-reconstruction-with-a-titanium-mesh-cage-and-short-segmental-fusion-for-the-treatment-of-congenital-scoliokyphosis-the-indications-and-preliminary-results
#9
Shengru Wang, Jianguo Zhang, Guixing Qiu, Shugang Li, Yanbin Zhang, Yang Yang, Xisheng Weng
STUDY DESIGN: Perspective study. OBJECTIVES: To evaluate the indications and preliminary results of posterior hemivertebra resection with anterior structural reconstruction with a titanium mesh cage and short segmental fusion. SUMMARY OF BACKGROUND DATA: There exist lots of reports on posterior hemivertebra resection for the early surgical intervention of congenital scoliosis due to hemivertebra. However, few reports describe the procedure of the anterior structural reconstruction after posterior hemivertebra resection...
May 26, 2017: Spine
https://www.readbyqxmd.com/read/28547000/whole-exome-sequencing-of-a-patient-with-suspected-mitochondrial-myopathy-reveals-novel-compound-heterozygous-variants-in-ryr1
#10
Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, Jessica L Jackson, Sarah Macklin, Margot A Cousin, Nicole J Boczek, Eric W Klee, Elliot L Dimberg, Kathleen D Kennelly, Paldeep S Atwal
BACKGROUND: Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS: We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28502730/overgrowth-syndromes-caused-by-somatic-variants-in-the-phosphatidylinositol-3-kinase-akt-mammalian-target-of-rapamycin-pathway
#11
REVIEW
Gozde Akgumus, Fengqi Chang, Marilyn M Li
Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28488400/kaposi-sarcoma-oral-malformations-mitral-dysplasia-and-scoliosis-associated-with-7q34-q36-3-heterozygous-terminal-deletion
#12
Carolyn C Jackson, Alain Lefèvre-Utile, Anne Guimier, Valérie Malan, Julie Bruneau, Antoine Gessain, Olivier Cassar, Jeanne Amiel, Aurélie Cobat, Vimel Rattina, Laurent Abel, Jean-Laurent Casanova, Stéphane Blanche
Chromosome 7 germline macrodeletions have been implicated in human congenital malformations and developmental delays. We herein report a novel heterozygous macrodeletion of 7q34-q36.3 in a 16-year-old girl originally from West Indies. Similar to previously reported cases of germline chromosome 7q terminal deletions, our patient has dental malposition, and developmental (growth and intellectual) delay. Novel phenotypic features include endemic Kaposi sarcoma (KS), furrowed tongue, thoracolumbar scoliosis, and mild mitral valve dysplasia...
May 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28463628/microcomputed-tomographic-morphometric-and-histopathologic-assessment-of-congenital-bone-malformations-in-two-neotropical-viperids
#13
Marcelo Pires Nogueira de Carvalho, Sávio Stefanini Sant'Anna, Kathleen Fernandes Grego, Ana Carolina Brandão de Campos Fonseca-Pinto, Carla Aparecida Batista Lorigados, Nicolle Gilda Teixeira Queiroz-Hazarbassanov, José Luiz Catão-Dias
Congenital malformations have been reported in all classes of vertebrates and may be a determinant of life span and survival. In reptiles, the incidence of congenital malformations can be associated with genetic and environmental causes, including pollution. The characterization of pathological processes involved in the development of congenital malformations of bone in snakes is rare in the literature, but is of great relevance in the field of reptile conservation and environmental health. We describe congenital bone lesions in 50 newborn jararaca (Bothrops jararaca) and 26 South American rattlesnakes (Crotalus durissus terrificus) born from wild-caught pregnant females in Southeastern Brazil...
May 2, 2017: Journal of Wildlife Diseases
https://www.readbyqxmd.com/read/28457852/identification-of-a-novel-de-novo-nonsense-mutation-of-the-nsd1-gene-in-monozygotic-twins-discordant-for-sotos-syndrome
#14
Ji Yoon Han, In Goo Lee, Woori Jang, Soyoung Shin, Joonhong Park, Myungshin Kim
INTRODUCTION: Sotos syndrome is a congenital overgrowth disorder characterized by facial gestalt, excessively rapid growth, acromegalic features and a non-progressive cerebral disorder with intellectual disability. METHODOLOGY: The identical male twins showed somewhat different clinical, cognitive and behavioural phenotypes. Abnormal clinical manifestations including seizures, scoliosis, enlarged ventricles, and attention-deficit/hyperactivity disorder (ADHD) were found in the proband (first twin), but not in the sibling (second twin)...
July 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28441279/congenital-etiology-is-an-independent-risk-factor-for-complications-in-adolescents-undergoing-corrective-scoliosis-surgery-comparison-of-in-hospital-comorbidities-using-nationwide-kid-s-inpatient-database
#15
Gregory W Poorman, Cyrus M Jalai, Bassel Diebo, Shaleen Vira, John Buza, Joe Baker, Jared Tishelman, Samantha Horn, Olivia Bono, Kartik Shenoy, Saqib Hasan, Justin Paul, Evan Isaacs, Ian Kaye, Abiola Atanda, Aaron J Buckland, Virginie LaFage, Thomas Errico, Peter G Passias
BACKGROUND: Congenital scoliosis (CS) is associated with more rigid, complex deformities relative to adolescent idiopathic scoliosis (AIS) which theoretically increases surgical complications. Despite extensive literature studying AIS patients, few studies have been performed on CS patients. The purpose of this study was to evaluate complications associated with spinal fusions for CS and AIS. METHODS: A retrospective review of the Kid's Inpatient Database (KID) years 2000 to 2009 was performed...
April 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28437357/the-effect-of-concomitant-rib-deformity-in-congenital-scoliosis-on-spinal-curve-correction-after-segmental-pedicle-screw-instrumentation
#16
Ebrahim Ameri, Daniel F Fouladi, Mir Bahram Safari, Hossein Vahid Tari, Hassan Ghandhari
STUDY DESIGN: A single-center, prospective study. OBJECTIVE: To investigate the effect of rib anomaly on surgical curve correction outcome in congenital scoliosis. SUMMARY OF BACKGROUND DATA: The presence of rib anomalies may complicate surgical correction of congenital scoliosis. The outcome of surgical correction, however, has not been documented in scoliotic patients with and without rib deformity. METHODS: Percent Cobb angle decrease (CAD) after operation was calculated in 94 patients with congenital scoliosis...
May 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28437340/proximal-junctional-kyphosis-following-posterior-hemivertebra-resection-and-short-fusion-in-children-younger-than-10-years
#17
Yingsong Wang, Noriaki Kawakami, Taichi Tsuji, Tetsuya Ohara, Yoshitaka Suzuki, Toshiki Saito, Ayato Nohara, Ryoji Tauchi, Kazuki Kawakami
STUDY DESIGN: A retrospective study. OBJECTIVE: To investigate whether proximal junctional kyphosis (PJK) or obvious proximal junctional angle (PJA) changes in the sagittal plane develops following short fusion in children younger than 10 years of age with congenital scoliosis, and to investigate the possible risk factors. SUMMARY OF BACKGROUND DATA: PJK following long spinal fusion in adolescents and adults is a serious postoperative complication...
May 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28411587/novel-stac3-mutations-in-the-first-non-amerindian-patient-with-native-american-myopathy
#18
Michelle Grzybowski, Anne Schänzer, Alexander Pepler, Corina Heller, Bernd A Neubauer, Andreas Hahn
Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper excitation-contraction coupling in muscle. Here, we report the first non-Amerindian patient of Turkish ancestry, being compound heterozygous for the mutations c.862A>T (p.K288*) and c.432+4A>T (aberrant splicing with skipping of exon 4). Symptoms in NAM include congenital muscle weakness and contractures, progressive scoliosis, early ventilatory failure, a peculiar facial gestalt with mild ptosis and downturned corners of the mouth, short stature, and marked susceptibility to malignant hyperthermia...
April 15, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28409271/unique-presentation-of-cutis-laxa-with-leigh-like-syndrome-due-to-echs1-deficiency
#19
S Balasubramaniam, L G Riley, D Bratkovic, D Ketteridge, N Manton, M J Cowley, V Gayevskiy, T Roscioli, M Mohamed, T Gardeitchik, E Morava, J Christodoulou
Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade...
April 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28399050/veptr-are-we-reducing-respiratory-assistance-requirements
#20
Sarah B Nossov, Evan Curatolo, Robert M Campbell, Oscar H Mayer, Sumeet Garg, Patrick J Cahill
BACKGROUND: The assisted ventilation rating (AVR) indicates the degree of external respiratory support required in children with thoracic insufficiency syndrome (TIS) and early onset scoliosis. For skeletally immature patients with TIS, the vertical expandable prosthetic titanium rib (VEPTR) device can be used to improve lung volume and growth. We hypothesized that patients who underwent early thoracic reconstruction by VEPTR treatment had an improved respiratory status. METHODS: Preoperative and postoperative AVR ratings were prospectively collected in a multicenter study group and compared with determine change after VEPTR treatment...
April 10, 2017: Journal of Pediatric Orthopedics
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