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kyphoscoliosis

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https://www.readbyqxmd.com/read/29914939/transcriptional-up-regulation-of-bag3-a-chaperone-assisted-selective-autophagy-factor-in-animal-models-of-ky-deficient-hereditary-myopathy
#1
Elliot J Jokl, Gideon L Hughes, Tobias Cracknell, Mary E Pownall, Gonzalo Blanco
The importance of kyphoscoliosis peptidase (KY) in skeletal muscle physiology has recently been emphasised by the identification of novel human myopathies associated with KY deficiency. Neither the pathogenic mechanism of KY deficiency nor a specific role for KY in muscle function have been established. However, aberrant localisation of FLNC in muscle fibers has been shown in humans and mice with loss of function mutations in the KY gene. FLNC turnover has been proposed to be controlled by Chaperone Assisted Selective Autophagy (CASA), a client-specific and tension-induced pathway that is required for muscle maintenance...
June 18, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29903595/the-likelihood-of-general-practitioners-referring-patients-to-physiotherapists-is-low-for-some-health-problems-secondary-analysis-of-the-bettering-the-evaluation-and-care-of-health-beach-observational-study
#2
Sarah Dennis, Ian Watts, Ying Pan, Helena Britt
QUESTIONS: Which health problems do medical general practitioners (GPs) most commonly refer to physiotherapists? What is the likelihood of GPs referring patients for specific health problems? DESIGN: Secondary analysis of data from the Bettering the Evaluation and Care of Health (BEACH) study, which is a national observational study of Australian general practice clinical activity. PARTICIPANTS: People at GP encounters between April 2010 and March 2015...
June 11, 2018: Journal of Physiotherapy
https://www.readbyqxmd.com/read/29900417/the-tatton-brown-rahman-syndrome-a-clinical-study-of-55-individuals-with-de-novo-constitutive-dnmt3a-variants
#3
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E Veenstra-Knol, Naomi Yachelevich, Laura Yates, Nazneen Rahman
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants. Here we have undertaken a detailed clinical study of 55 individuals with de novo DNMT3A variants, including the 13 previously reported individuals. An intellectual disability and overgrowth were reported in >80% of individuals with TBRS and were designated major clinical associations...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29886923/early-onset-spinal-deformity-in-skeletal-dysplasias-a-multicenter-study-of-growth-friendly-systems
#4
Klane K White, Viviana Bompadre, Suken A Shah, Gregory J Redding, Walter F Krengel, William G Mackenzie
PURPOSE: Severe, early-onset spinal deformity is common in patients with skeletal dysplasia. These deformities often present at young ages and are associated with significant pulmonary dysfunction. The objective of this study is to verify the effectiveness of growth-friendly spinal instrumentation systems in promoting growth in patients with skeletal dysplasia and early-onset kyphoscoliosis. METHODS: A retrospective, multicenter comparative cohort study was performed...
July 2018: Spine Deformity
https://www.readbyqxmd.com/read/29879786/do-pedicle-screws-in-concave-apex-of-scoliosis-offer-any-advantages
#5
Yogesh Kishorkant Pithwa
STUDY DESIGN: Retrospective analysis of prospectively collected data. PURPOSE: To assess the relative advantages of implant constructs with and without pedicle screws in the concave apex for correcting scoliosis. OVERVIEW OF LITERATURE: Concave apical pedicles in scoliosis can be narrow and dysplastic. Neural structures also migrate toward concavity, leaving little room for error while inserting pedicle screws into the concave apex. METHODS: Patients (n=35) undergoing scoliosis surgery from September 2004 to September 2009 with minimum 5-year follow-up period were included...
June 2018: Asian Spine Journal
https://www.readbyqxmd.com/read/29871755/vertebral-formula-and-congenital-abnormalities-of-the-vertebral-column-in-rabbits
#6
P Proks, L Stehlik, I Nyvltova, A Necas, M Vignoli, V Jekl
The aim of this retrospective study of 330 rabbits (164 males, 166 females) was to determine different vertebral formulas and prevalence of congenital vertebral anomalies in rabbits from radiographs of the cervical (C), thoracic (Th), lumbar (L) and sacral (S) segments of the vertebral column. The number of vertebrae in each segment of vertebral column, position of anticlinal vertebra and localisation and type of congenital abnormalities were recorded. In 280/330 rabbits (84.8%) with normal vertebral morphology, seven vertebral formulas were identified: C7/Th12/L7/S4 (252/330, 76...
June 2018: Veterinary Journal
https://www.readbyqxmd.com/read/29779902/molecular-genetics-and-metabolism-special-edition-diagnosis-diagnosis-and-prognosis-of-mucopolysaccharidosis-iva
#7
REVIEW
Hira Peracha, Kazuki Sawamoto, Lauren Averill, Heidi Kecskemethy, Mary Theroux, Mihir Thacker, Kyoko Nagao, Christian Pizarro, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to the accumulation of specific glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS), which are mainly synthesized in the cartilage. Therefore, the substrates are stored primarily in the cartilage and its extracellular matrix (ECM), leading to a direct impact on bone development and successive systemic skeletal spondylepiphyseal dysplasia...
May 15, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29779595/disorders-of-the-chest-wall-clinical-manifestations
#8
REVIEW
Mazen O Al-Qadi
Chest wall disorders represent deformities and/or injuries that alter the rib cage geometry and result in pulmonary restriction, increased work of breathing, exercise limitations, and cosmotic concerns. These disorders are congenital or acquired and affect all ages. Disorders affecting the spine (kyphoscoliosis, ankylosing spondylitis), ribs (flail chest), and sternum (pectus excavatum) are discussed in this article, with emphasis on clinical presentations, pulmonary function abnormalities, diagnosis, and treatment...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29726122/interstitial-microdeletion-of-the-1p34-3p34-2-region
#9
Joseph E Jacher, Jeffrey W Innis
BACKGROUND: Interstitial microdeletions of chromosome 1p34.3p34.2 are rare, but are continuing to be identified by the use of chromosome microarray. There have been fewer than 10 individuals identified who have deletions of the 1p34.3p34.2 region; all of these previously described individuals have deletions of the AGO1, AGO3, GRIK3, SLC2A1, or RIMS3 genes. Haploinsufficiency of these genes has been associated with neurodevelopmental delays. METHODS: Chromosome microarray, quantitative PCR, and fluorescence in situ hybridization were performed with DNA extracted from peripheral blood...
May 3, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29643641/pierre-robin-sequence-with-cervicothoracic-kyphoscoliosis-an-anesthetic-challenge
#10
V Abraham, S Grewal, G Bhatia, N Kaur, W Raghav, P Jain, N Gupta, M Singh, C George
No abstract text is available yet for this article.
January 2018: Journal of Anaesthesiology, Clinical Pharmacology
https://www.readbyqxmd.com/read/29628596/subarachnoid-block-a-safe-choice-for-cesarean-section-in-neurofibromatosis-patient-with-severe-kyphoscoliosis
#11
Ibrahim Demir, Ebru Tarıkçı Kılıç, Mehmet Salim Akdemir
Neurofibromatosis type 1 (NF1) is an autosomal-dominant neuroectodermal hereditary disorder, in which spinal skeletal deformities are one of the manifestations. Pectus carinatum, temporomandibular joint dysfunction, and kyphoscoliosis can be seen with this genetic disorder which can lead to cardiorespiratory system problems and can cause difficulty in airway management. We present the anesthetic management of a NF1 patient with a sharp thoracolumbar dystrophic kyphoscoliosis who have been posted for emergency cesarean section as a result of fetal distress...
January 2018: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29627275/growth-impairment-in-mucopolysaccharidoses
#12
REVIEW
Melodie Melbouci, Robert W Mason, Yasuyuki Suzuki, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that affect regulation of glycosaminoglycan (GAG) processing. In MPS, the lysosomes cannot efficiently break down GAGs, and the specific GAGs accumulated depend on the type of MPS. The level of impairment of breakdown varies between patients, making this one of the many factors that lead to a range of clinical presentations even in the same type of MPS. These clinical presentations usually involve skeletal dysplasia, in which the most common feature is bone growth impairment and successive short stature...
May 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29602482/-neurofibromatosis-as-a-cause-of-breathlessness
#13
A Palot, C Ferrandez, K Alagha, A Ilstad-Minnihan, C Tummino, M Gouitaa, D Charpin, P Chanez
INTRODUCTION: Type 1 neurofibromatosis, also called "Recklinghausen's disease" is among the most frequent autosomal dominant genetic disorders, with an incidence of 1:3500 births. It mainly affects the skin and peripheral nervous system. However, in its less frequent manifestations, are tumors such as meningocele and skeletal dysplasias leading to severe clinical presentation. CASE REPORT: We report the case of a 55-year-old patient with type 1 neurofibromatosis and dyspnea due to a large left thoracic meningocele combined with a significant kyphoscoliosis, causing a severe restrictive ventilatory defect, complicated by chronic respiratory failure and pulmonary hypertension...
March 2018: Revue des Maladies Respiratoires
https://www.readbyqxmd.com/read/29600907/posterior-approach-single-level-apical-spinal-osteotomy-in-pediatric-patients-for-severe-rigid-kyphoscoliosis-long-term-clinical-and-radiological-outcomes
#14
Ankit Patel, Sameer Ruparel, Tarun Dusad, Gaurav Mehta, Vishal Kundnani
OBJECTIVE Spinal osteotomy in pediatric patients is challenging due to various factors. For correction of severe rigid kyphoscoliosis in children, numerous techniques with anterior or posterior or combined approaches, as well as multilevel osteotomies, have been described. These techniques are associated with prolonged operative times and large amounts of blood loss. The purpose of this study was to evaluate the clinical and radiologically confirmed efficacy of a modification of the apical spinal osteotomy (ASO) technique-posterior-only single-level asymmetric closing osteotomy-in pediatric patients with severe rigid kyphoscoliosis...
March 30, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29599822/novel-phenotype-of-5p13-3-q11-2-duplication-resulting-from-supernumerary-marker-chromosome-5-implications-for-management-and-genetic-counseling
#15
Margaret E Armstrong, David D Weaver, Melissa D Lah, Gail H Vance, Benjamin J Landis, Stephanie M Ware, Benjamin M Helm
Background: Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose of this study is to highlight the unique findings of a patient with a 5p13.3-q11.2 duplication arising from a SMC5 and compare and contrast the phenotype with cases in the literature. Case presentation: We report on an adult male with a 22 Mb duplication of chromosome 5p13...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29580726/-white-hemithorax-in-a-young-women-carrying-coffee-and-milk-spots
#16
S Ben Saad, M Abdenadher, M Attia, H Daghfous, F Tritar
INTRODUCTION: Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is an autosomal dominant genetic disorder with multivisceral manifestations. We report the case of a spontaneous haemothorax in a young lady wearing this genetic pathology. CASE REPORT: A 31-year-old woman with kyphoscoliosis developed acute chest pain and dyspnea. The physical examination revealed a right pleuritic syndrome, coffee and milk spots and neurofibromas of the trunk. Biological assessment showed anemia at 6...
April 2018: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/29509523/electrophysiology-of-muscle-fatigue-in-cardiopulmonary-resuscitation-on-manikin-model
#17
Carlos Cobo-Vázquez, Gemma De Blas, Pablo García-Canas, María Del Carmen Gasco-García
Cardiopulmonary resuscitation requires the provider to adopt positions that could be dangerous for his or her spine, specifically affecting the muscles and ligaments in the lumbar zone and the scapular spinal muscles. Increased fatigue caused by muscular activity during the resuscitation could produce a loss of quality and efficacy, resulting in compromising resuscitation. The aim of this study was to evaluate the maximum time a rescuer can perform uninterrupted chest compressions correctly without muscle fatigue...
2018: Anesthesia Progress
https://www.readbyqxmd.com/read/29462064/health-related-quality-of-life-of-adolescents-with-severe-untreated-congenital-kyphosis-and-kyphoscoliosis-in-a-developing-country
#18
Hany Abdel Gawwad Soliman
STUDY DESIGN: A cross-sectional study OBJECTIVE.: The aim of this study was to study the health-related quality of life (HRQOL) of adolescents with severe untreated congenital kyphosis (CK) and congenital kyphoscoliosis (CKS) in a developing country. SUMMARY OF BACKGROUND DATA: Surgical intervention is generally indicated early in patients with progressive CK or CKS to prevent the progression of deformity and to improve the quality of life of the patients. HRQOL of adolescents with untreated CK and CKS in developing countries has never been investigated...
February 16, 2018: Spine
https://www.readbyqxmd.com/read/29397630/-radiological-analysis-of-coronal-and-sagittal-spinopelvic-parameters-in-patients-with-degenerative-lumbar-kyphoscoliosis
#19
C J Liu, Z Q Zhu, S Duan, K F Wang, W W Xia, S Xu, H Y Liu
Objective: To review and compare radiological parameters between degenerative lumbar kyphoscoliosis (DLKS) and degenerative lumbar kyphosis (DLK), and analyze the relationships between coronal and sagittal deformities and compensatory mechanisms of sagittal balance. Methods: A total of 82 patients with lumbar degenerative deformities were enrolled for our radiographic study at Department of Spinal Surgery, Peking University People's Hospital from January 2016 to May 2017. These patients were divided into two groups: DLKS group (39 patients) with lumbar coronal and sagittal deformities, and DLK group (43 patients) just with lumbar sagittal deformity...
February 1, 2018: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/29397629/-comparison-of-clinical-outcome-between-utilized-second-sacral-alar-iliac-and-iliac-screw-on-kyphoscoliosis-patients
#20
Z Liu, C C Tseng, Z H Zhao, J Li, B Wang, Y Yu, B P Qian, X Sun, Y Qiu, Z Z Zhu
Objective: To compare the clinical outcome and health related quality of life(HRQoL)of patients with degenerative spinal deformity who underwent spino-pelvic fixation utilized second sacral alar-iliac(S(2)AI)with patient utilized traditional iliac screw(IS). Methods: Patients diagnosed as degenerative spinal deformity who underwent spino-pelvic fixation utilized either S(2)AI screw or Iliac screw at Department of Spine Surgery of Drum Tower hospital from January 2013 to January 2016 were retrospectively analyzed...
February 1, 2018: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
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