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Congenital scoliosis

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https://www.readbyqxmd.com/read/29765785/spondylocostal-dysostosis-a-literature-review-and-case-report-with-long-term-follow-up-of-a-conservatively-managed-patient
#1
Brendan R Southam, Adam P Schumaier, Alvin H Crawford
Introduction: Patients with spondylocostal dysostosis (SCD) have congenital spine and rib deformities associated with frequently severe thoracic insufficiency and respiratory compromise. The literature is largely composed of case reports and small cohorts, and there is little information regarding adults with this condition. In this report, we describe the natural history of a conservatively treated patient and include quality-of-life issues such as childbearing, athletic participation, and occupational selection...
2018: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29753921/de-novo-loss-of-function-variants-of-ash1l-are-associated-with-an-emergent-neurodevelopmental-disorder
#2
Wei Shen, Patti Krautscheid, Audrey M Rutz, Pinar Bayrak-Toydemir, Sarah L Dugan
De novo variants of ASH1L, which encodes a histone methyltransferase, have been reported in a few patients with intellectual disability and autistic features. Here, we identified a novel de novo frame-shift variant, c.2422_2423delAAinsT which predicts p.(Lys808TyrfsTer40), in ASH1L in a patient with multiple congenital anomalies (MCA), fine motor developmental delay, learning difficulties, attention deficit hyperactivity disorder, sleep apnea, and scoliosis. This frame-shift variant is expected to result in loss-of-function...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29735971/functional-and-in-silico-assessment-of-gdf3-gene-variants-in-a-chinese-congenital-scoliosis-population
#3
Jia Chen, Xiaoxin Li, Yuchen Niu, Zhihong Wu, Guixing Qiu
BACKGROUND The present study aimed to evaluate the pathogenicity of 5 [i]GDF3[/i] gene variations using functional and [i]in silico[/i] assessment approaches in a Chinese congenital scoliosis population. MATERIAL AND METHODS We selected 13 patients carrying 5 variants from a congenital scoliosis cohort. The PCR products of samples were verified by Sanger sequencing. The data and sequence alignment were analyzed using Chromas and ClustalW. SIFT and PolyPhen-2 were used to predict the functional effects of each missense and amino acid substitutions...
May 8, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29730456/outcome-and-safety-analysis-of-3d-printed-patient-specific-pedicle-screw-jigs-for-complex-spinal-deformities-a-comparative-study
#4
Bhavuk Garg, Manish Gupta, Menaka Singh, Dinesh Kalyanasundaram
BACKGROUND CONTEXT: Spinal deformities are very challenging to treat and have a great risk of neurological complications due to hardware placement during corrective surgery. Various techniques have been introduced to ensure safe and accurate placement of pedicle screws. Patient-specific screw guides with pre-drawn and pre-validated trajectory seems to be an attractive option. PURPOSE: We have focused on developing 3D printing technique for complex spinal deformities in India...
May 3, 2018: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/29727414/comprehensive-assessment-of-outcomes-from-patients-with-severe-early-onset-scoliosis-treated-with-a-vertebral-column-resection-results-from-an-srs-global-outreach-site-focos-in-ghana
#5
Kushagra Verma, Casey Slattery, Henry Duah, Kawdwo P Yankey, Gregory Mundis, Oheneba Boachie-Adjel
BACKGROUND: Early-onset scoliosis (EOS) remains a challenging pediatric spine condition to manage. Some severe deformities can be managed with a vertebral column resection (VCR), which is fraught with high complication rates and the outcomes have not been well reported. The purpose of this study is to provide an assessment of operative, radiographic, and clinical outcomes from children diagnosed with severe EOS treated with a VCR. METHODS: We performed a retrospective review of prospectively collected data...
April 30, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29699707/anaesthetic-management-of-a-paediatric-patient-with-congenital-fibre-type-disproportion-myopathy
#6
F Buisán, O de la Varga, M Flores, J Sánchez-Ruano
Congenital fibre type disproportion (CFTD) is a rare type of myopathy that is characterised by muscle weakness and hypotonia during childhood. Clinical features include motor delay, feeding difficulties, limb weakness, joint contractures, and scoliosis. A report is presented of the anaesthetic management of a 3-year-old girl with CFTD myopathy associated with a mutation of the TPM3 gene, scheduled for adenotonsillectomy because of obstructive sleep apnoea hypopnoea syndrome (OSAHS). The main concerns were the possible susceptibility to malignant hyperthermia, the risk of anaesthesia-induced rhabdomyolysis, a greater sensitivity to non-depolarising muscle relaxants, and the presence of OSAHS...
April 23, 2018: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/29691892/congenital-titinopathy-comprehensive-characterisation-and-pathogenic-insights
#7
Emily C Oates, Kristi J Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E Smith, James S Ware, Kyle S Yau, Lindsay C Swanson, Nicola Whiffin, Anthony J Peduto, Adam Bournazos, Leigh B Waddell, Michelle A Farrar, Hugo A Sampaio, Hooi Ling Teoh, Phillipa J Lamont, David Mowat, Robin B Fitzsimons, Alastair J Corbett, Monique M Ryan, Gina L O'Grady, Sarah A Sandaradura, Roula Ghaoui, Himanshu B Joshi, Jamie L Marshall, Melinda A Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E Leach, A Reghan Foley, Diana Bharucha-Goebel, James Collins, Anne M Connolly, Heather R Gilbreath, Susan T Iannaccone, Diana Castro, Beryl B Cummings, Richard I Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho-Ming Luk, Neil H Thomas, Nicola C Foulds, Marjorie A Illingworth, Sian Ellard, Catriona A McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T Cooper, Erik-Jan Kamsteeg, Eric P Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N North, Nigel F Clarke, Monkol Lek, Alan H Beggs, Carsten G Bönnemann, Daniel G MacArthur, Henk Granzier, Mark R Davis, Nigel G Laing
OBJECTIVE: Comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively parallel sequencing we identified 30 patients from 27 families with two pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathology and imaging features of these patients. RESULTS: All patients had prenatal- or early-onset hypotonia and/or congenital contractures...
April 25, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29685017/posterior-hemivertebra-resection-in-combination-with-screw-rod-internal-fixation-in-the-treatment-of-pediatric-congenital-scoliosis
#8
Y L Tian, J Geng, F Wang, Y P Zheng
Congenital scoliosis, a commonly seen disease occurring in children, can not only affect the growth, but also can uglify the individual which can severely affect the health and quality of life of children. To investigate the efficacy of posterior hemivertebra resection in combination with screw rod internal fixation in the treatment of congenital hemivertebra scoliosis, 115 patients were randomly divided into an observation group and a control group. Patients in the observation group were treated by posterior hemivertebra resection in combination with screw rod internal fixation, while patients in the control group were treated by posterior hemivertebra resection only...
March 2018: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/29671107/the-etiology-of-congenital-scoliosis-genetic-vs-environmental-a-report-of-three-monozygotic-twin-cases
#9
REVIEW
Woojin Cho, Nicholas Shepard, Vincent Arlet
PURPOSE: To describe the presence of congenital scoliosis in a genetically identical population as it relates to the possible genetic vs. environmental etiologic factors. METHODS: The authors describe three cases of congenital scoliosis in monozygotic twins. The first pair includes two 4-year-old girls presenting with mirror curves, one of whom had an associated stage I Chiari malformation. The second pair is a 4-year-old girl who presented with thoracic scoliosis, a T10-11 hemivertebra, and multilevel failure of segmentation in the lumbar spine whose identical sibling is unaffected...
April 18, 2018: European Spine Journal
https://www.readbyqxmd.com/read/29629541/clinical-and-pathologic-findings-of-korean-patients-with-ryr1-related-congenital-myopathy
#10
Ha Neul Jeong, Hyung Jun Park, Jung Hwan Lee, Ha Young Shin, Se Hoon Kim, Seung Min Kim, Young Chul Choi
BACKGROUND AND PURPOSE: This study was designed to investigate clinical and pathologic characteristics of five Korean patients with RYR1-related congenital myopathy (CM). METHODS: Five patients from unrelated families were diagnosed with RYR1-related CM via direct or targeted sequencing of RYR1. Their clinical, mutational, and pathologic findings were then analyzed. RESULTS: Seven different mutations were identified, including two novel mutations: c...
January 2018: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29627765/scoliosis-in-association-with-the-22q11-2-deletion-syndrome-an-observational-study
#11
Jelle F Homans, Vyaas G M Baldew, Rob C Brink, Moyo C Kruyt, Tom P C Schlösser, Michiel L Houben, Vincent F X Deeney, Terrence B Crowley, René M Castelein, Donna M McDonald-McGinn
OBJECTIVE: The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. It is characterised by wide phenotypic variability, including congenital heart disease (CHD), immunodeficiency and scoliosis. However, little is known regarding the prevalence and characteristics of scoliosis in patients with 22q11.2DS. The objective of this study is to assess the prevalence of scoliosis, its characteristics and the association with CHD in patients with 22q11.2DS...
April 7, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29623457/prediction-of-respiratory-function-in-patients-with-severe-scoliosis-on-the-basis-of-the-novel-individualized-spino-pelvic-index
#12
Zhi-Hui Zhao, Hong-da Bao, Chang-Chun Tseng, Ze-Zhang Zhu, Yong Qiu, Zhen Liu
OBJECTIVE: Our study aimed to evaluate the pulmonary function of patients with severe scoliosis after correcting standing height with spino-pelvic index (SPI). METHODS: Inclusion criteria: (1) with a coronal Cobb angle of more than 90°; (2) diagnosed as congenital (CS) or idiopathic scoliosis (IS); (3) aged between ten and 20 years; (4) with pulmonary function test (PFT) at the primary consultation. Patients with previous surgical intervention, with angular kyphosis, and with neuromuscular disease were excluded...
April 5, 2018: International Orthopaedics
https://www.readbyqxmd.com/read/29621191/syringomyelia-in-an-adult-american-paint-horse
#13
Jacqueline P Kurz, Kate E Schoenhals, Gordon A Hullinger, Arnaud J Van Wettere
Syringomyelia is a form of myelodysplasia defined by the formation of one or more fluid-filled cavities within the spinal cord that do not communicate with the central canal. The defect may be congenital or acquired. Clinical signs correlate to the segment of spinal cord affected and include pain, paresis, proprioceptive deficits, alterations in sensation, scoliosis, and autonomic dysfunction. This report describes the clinical and pathologic changes in a case of acquired syringomyelia in a 10-year-old American Paint Horse mare...
April 5, 2018: Veterinary Sciences
https://www.readbyqxmd.com/read/29582170/management-of-split-cord-malformation-in-children-the-lyon-experience
#14
Beuriat Pierre-Aurelien, Di Rocco Federico, Szathmari Alexandru, Mottolese Carmine
INTRODUCTION: Split cord malformation (SCM) is a rare congenital spinal abnormality. Clinical presentation varies. Other congenital defects can be associated. Management is surgical. MATERIAL AND METHODS: We retrospectively reviewed all our SCM cases and reported our experience for its management. From 1990 to 2014, 37 patients were operated. Five situations lead to the diagnosis (orthopedic disorders (n = 8), orthopedic and neurological disorders (n = 16), pure neurological disorders (n = 5), no symptoms except cutaneous signs (n = 7), antenatal diagnosis (n = 1))...
March 26, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29573446/scoliosis-vertebral-growth-plate-histomorphometry-comparisons-to-controls-growth-rates-and-compressive-stresses
#15
Donita I Bylski-Austrow, David L Glos, Eric J Wall, Alvin H Crawford
Scoliosis progression in skeletally immature patients depends on remaining growth. Relationships between vertebral growth plate histomorphometry, growth rates, and mechanical stresses have been reported in several animal studies. Hypertrophic zone heights and chondrocyte heights have been used to assess treatments that aim to modulate growth. The purpose of this study was to determine whether human vertebral physeal hypertrophic zone and cell heights differed between two groups: severe scoliosis and autopsy controls...
March 24, 2018: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/29556213/novel-variants-in-individuals-with-ryr1-related-congenital-myopathies-genetic-laboratory-and-clinical-findings
#16
Joshua J Todd, Muslima S Razaqyar, Jessica W Witherspoon, Tokunbor A Lawal, Ami Mankodi, Irene C Chrismer, Carolyn Allen, Mary D Meyer, Anna Kuo, Monique S Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G Bönnemann, James J Dowling, Katherine G Meilleur
The ryanodine receptor 1-related congenital myopathies ( RYR1 -RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and respiratory involvement. Although there is currently no FDA-approved treatment for RYR1- RM, our group recently conducted the first clinical trial in this patient population (NCT02362425). This study aimed to characterize novel RYR1 variants with regard to genetic, laboratory, muscle magnetic resonance imaging (MRI), and clinical findings...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29549527/in-vitro-efficacy-of-arq-092-an-allosteric-akt-inhibitor-on-primary-fibroblast-cells-derived-from-patients-with-pik3ca-related-overgrowth-spectrum-pros
#17
C Ranieri, S Di Tommaso, D C Loconte, V Grossi, P Sanese, R Bagnulo, F C Susca, G Forte, A Peserico, A De Luisi, A Bartuli, A Selicorni, D Melis, M Lerone, A D Praticò, G Abbadessa, Y Yu, B Schwartz, Martino Ruggieri, Cristiano Simone, Nicoletta Resta
Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue overgrowth that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use in these patients. PROS patients could be ideal candidates for enrolment in trials with PI3K/AKT pathway inhibitors, considering the "clean" cellular setting in which a unique driver, a PIK3CA mutation, is present...
March 16, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29528877/genetic-variant-of-socs3-gene-is-functionally-associated-with-lumbar-adolescent-idiopathic-scoliosis
#18
Jun Qiao, Lingyan Xiao, Leilei Xu, Bangping Qian, Zezhang Zhu, Yong Qiu
STUDY DESIGN: This is a genetic association study. OBJECTIVE: To investigate association between suppressor of cytokine signaling-3 (SOCS3) gene polymorphisms and the onset and progression of lumbar adolescent idiopathic scoliosis (AIS) and to further clarify its role in the regulation of SOCS3 expression in AIS patients. SUMMARY OF BACKGROUND DATA: Some studies showed that muscle development imbalance may be responsible for onset and progression of lumbar AIS...
April 2018: Clinical Spine Surgery
https://www.readbyqxmd.com/read/29515055/prevalence-of-diverse-complications-and-its-association-with-karyotypes-in-japanese-adult-women-with-turner-syndrome-a-questionnaire-survey-by-the-foundation-for-growth-science
#19
Kunihiko Hanew, Toshiaki Tanaka, Reiko Horikawa, Tomonobu Hasegawa, Susumu Yokoya
The reported prevalence of complications in Turner Syndrome (TS) was highly variable because of the rarity and the limited numbers analyzed. Again, possible presence of other complications that are not described as specific for TS, is also speculated. To resolve these issues, a questionnaire survey was conducted in hGH treated 492 patients with adult TS (17-42 years). The possible association with these complications and karyotypes were also analyzed. The complications and their prevalence were as follows: chronic thyroiditis (25...
March 7, 2018: Endocrine Journal
https://www.readbyqxmd.com/read/29514872/homozygous-chst11-mutation-in-chondrodysplasia-brachydactyly-overriding-digits-clino-symphalangism-and-synpolydactyly
#20
Rana Muhammad Kamran Shabbir, Gökhan Nalbant, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
BACKGROUND: Carbohydrate sulfotransferase 11 (CHST11) is a membrane protein of Golgi that catalyses the transfer of sulfate to position 4 of the N-acetylgalactosamine residues of chondroitin. Chondroitin sulfate is the predominant proteoglycan in cartilage, and its sulfation is important in the developing growth plate of cartilage. A homozygous deletion encompassing part of the gene and the embedded miRNA MIR3922 had been detected in a woman with hand/foot malformation and malignant lymphoproliferative disease...
March 7, 2018: Journal of Medical Genetics
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