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kyphoscoliosis

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https://www.readbyqxmd.com/read/28822231/preoperative-halo-gravity-traction-for-severe-thoracic-kyphoscoliosis-patients-from-tibet-radiographic-correction-pulmonary-function-improvement-nursing-and-complications
#1
Xiaojin Li, Liwen Zeng, Xiaoyin Li, Xuexia Chen, Caixia Ke
BACKGROUND This study investigated the outcomes of preoperative HGT as an adjunct treatment for severe thoracic kyphoscoliosis, its role in radiographic correction, and pulmonary function improvement, together with nursing strategy and incidence of complications. MATERIAL AND METHODS Eleven patients with a mean age of 18.8 years were retrospectively reviewed. Inclusion criteria were: patients with severe kyphoscoliosis (coronal Cobb angle and kyphosis angle ≥80°); duration of HGT ≥8 weeks; patients undergoing HGT for at least 12 h per day; traction weight no less than 40% of body weight; and patients not receiving physical therapies...
August 19, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28777491/identification-of-stac3-variants-in-non-native-american-families-with-overlapping-features-of-carey-fineman-ziter-syndrome-and-moebius-syndrome
#2
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, Carlos E Speck-Martins, David FitzPatrick, Leah Fleming, Richard Redett, Andreas Dufke, Gunnar Houge, Jeske J T van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs, David Valle, John Carey, Julie E Hoover-Fong, Nara L M Sobreira
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28757364/ehlers-danlos-syndrome-kyphoscoliotic-type-due-to-lysyl-hydroxylase-1-deficiency-in-two-children-without-congenital-or-early-onset-kyphoscoliosis
#3
Fleur S van Dijk, Grazia M S Mancini, Alessandra Maugeri, Jan M Cobben
We report two children with Ehlers Danlos, kyphoscoliotic type confirmed by Lysyl Hydroxylase 1 deficiency due to bi-allelic PLOD1 mutations (kEDS-PLOD1) who were initially thought to have either a diagnosis of classical EDS (cEDS) or a neuromuscular disorder due to absence of (congenital) scoliosis. As the two patients reported here illustrate, patients with kEDS-PLOD1 do not always have a kyphoscoliosis present at birth or in the first year of life, neither do they necessarily develop kyphoscoliosis later in infancy...
July 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28746122/anterior-and-posterior-vertebral-column-resection-versus-posterior-only-technique-a-comparison-of-clinical-outcomes-and-complications-in-congenital-kyphoscoliosis
#4
Gokhan Demirkiran, Ozgur Dede, Emre Karadeniz, Deniz Olgun, Mehmet Ayvaz, Muharrem Yazici
STUDY DESIGN: Retrospective cohort. OBJECTIVE: The purpose of this study is to compare the anterior-posterior surgery to posterior-only vertebra resection for congenital kyphoscoliosis in pediatric patients. SUMMARY OF BACKGROUND DATA: Vertebral column resection is a very powerful correction technique mainly used in the treatment of severe and rigid spinal deformities. The technique can be applied with combined anterior and posterior vertebral column resection (APVCR) or posterior-only vertebral column resection (PVCR) approaches...
August 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28741218/asymmetric-pedicle-subtractionosteotomy-apso-guided-by-a-3d-printed-model-to-correct-a-combined-fixed-sagittal-and-coronal-imbalance
#5
Pierre-Pascal Girod, S Hartmann, P Kavakebi, J Obernauer, M Verius, C Thomé
Surgical correction of fixed thoracolumbar deformity is usually achieved by estimating the preoperatively planned correction angles during surgery and is therefore prone to inaccuracy. This is particularly problematic in biplanar deformities. To overcome these difficulties, 3D model for planning, preparation, and simulation of an asymmetric pedicle subtraction osteotomy (aPSO) was printed and used to realign coronal and sagittal balance in case of rigid degenerative kyphoscoliosis. A 59-year-old woman presented with severe back pain and spinal claudication and was diagnosed with a rigid kyphoscoliosis with multilevel spinal stenosis...
July 24, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28669484/vertebral-anomalies-in-craniofacial-microsomia-a-systematic-review
#6
REVIEW
R W Renkema, C J J M Caron, I M J Mathijssen, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Craniofacial microsomia (CFM) is characterized by a heterogeneous underdevelopment of the facial structures arising from the first and second branchial arches, but extracraniofacial malformations such as vertebral anomalies also occur. This systematic review provides an overview of the literature on the types and prevalence of vertebral anomalies found in patients with CFM. A systematic search was conducted. Data on the number of patients, patient characteristics, types and prevalence of vertebral anomalies, and other associations between CFM and vertebral anomalies were extracted from the articles identified...
June 29, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28667723/kyphoscolitic-type-of-ehlers-danlos-syndrome-with-prenatal-stroke
#7
Meriem Zahed-Cheikh, Barthélémy Tosello, Stéphanie Coze, Catherine Gire
BACKGROUND: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia. CASE CHARACTERISTICS: We report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early development of kyphoscoliosis. OUTCOME: Molecular analysis revealed a PLOD1 gene mutation. Our definitive diagnosis was a EDS VIA. MESSAGE: Prenatal brain stroke is a rare clinical feature of EDSVIA...
June 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28617417/a-cohort-of-17-patients-with-kyphoscoliotic-ehlers-danlos-syndrome-caused-by-biallelic-mutations-in-fkbp14-expansion-of-the-clinical-and-mutational-spectrum-and-description-of-the-natural-history
#8
Cecilia Giunta, Matthias Baumann, Christine Fauth, Uschi Lindert, Ebtesam M Abdalla, Angela F Brady, James Collins, Jahannaz Dastgir, Sandra Donkervoort, Neeti Ghali, Diana S Johnson, Ariana Kariminejad, Johannes Koch, Marius Kraenzlin, Nayana Lahiri, Bernarda Lozic, Adnan Y Manzur, Jenny E V Morton, Jacek Pilch, Rebecca C Pollitt, Gudrun Schreiber, Nora L Shannon, Glenda Sobey, Anthony Vandersteen, Fleur S van Dijk, Martina Witsch-Baumgartner, Johannes Zschocke, F Michael Pope, Carsten G Bönnemann, Marianne Rohrbach
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28602981/three-dimensional-translations-following-posterior-three-column-spinal-osteotomies-for-the-correction-of-severe-and-stiff-kyphoscoliosis
#9
Xueshi Li, Zifang Huang, Yaolong Deng, Hengwei Fan, Wenyuan Sui, Chongwen Wang, Junlin Yang
BACKGROUND CONTEXT: Posterior three-column spinal osteotomies were shown to be effective to treat severe and stiff kyphoscoliosis. Translations at the site of osteotomy after deformity correction were commonly seen intraoperatively, which might cause potential neurologic deficits. However, this phenomenon was not thoroughly discussed in the current literature. PURPOSE: This study aimed to evaluate the three-dimensional (3D) translations at the three-column osteotomy site and their effects on neurologic outcome in the surgical correction of severe and stiff kyphoscoliosis...
June 7, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28578109/reconstruction-of-thoracic-spine-using-a-personalized-3d-printed-vertebral-body-in-adolescent-with-t9-primary-bone-tumor
#10
Wen Jie Choy, Ralph J Mobbs, Ben Wilcox, Steven Phan, Kevin Phan, Chester E Sutterlin
BACKGROUND: Neurosurgery and spine surgery have the potential to benefit from the use of 3-dimensional printing (3DP) technology due to complex anatomic considerations and the delicate nature of surrounding structures. We report a procedure that uses a 3D-printed titanium T9 vertebral body implant post T9 vertebrectomy for a primary bone tumor. CASE DESCRIPTION: A 14-year-old female presented with progressive kyphoscoliosis and a pathologic fracture of the T9 vertebra with sagittal and coronal deformity due to a destructive primary bone tumor...
May 31, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28537042/safety-and-efficacy-of-percutaneous-nephrolithotomy-in-patients-with-severe-skeletal-deformities
#11
Seyed Habibollah Mousavi-Bahar, Shahriar Amirhasani, Maede Mohseni, Rezgar Daneshdoost
PURPOSE: Treatment of renal calculi in patients with severe skeletal deformities can be challenging. We present our experience in order to provide an assessment of technical difficulties, associated complications, and outcomes of percutaneous nephrolithotomy (PCNL) as a treatment option in this special patient group. MATERIALS AND METHODS: Our study included eight patients treated with PCNL for renal stones. All had severe skeletal deformities including six with severe kyphoscoliosis, one with osteogenesis imperfecta, and another withrickets...
May 23, 2017: Urology Journal
https://www.readbyqxmd.com/read/28532908/the-safety-and-efficiency-of-pvcr-without-anterior-support-applied-in-treatment-of-yang-type-a-severe-thoracic-kyphoscoliosis
#12
Wen-Yuan Sui, Zi-Fang Huang, Yao-Long Deng, Heng-Wei Fan, Jing-Fan Yang, Fo-Bao Li, Jun-Lin Yang
OBJECTIVE: To assess the clinical and radiographic outcomes of posterior vertebral column resection (PVCR) without anterior support in treatment of Yang type A severe rigid thoracic kyphoscoliosis. METHODS: The records of 27 Yang type A severe thoracic kyphoscoliosis patients treated with PVCR without anterior support from January 2010 to September 2013 were analyzed retrospectively. Intraoperative multimodal neurophysiological monitoring was conducted in all patients...
August 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28488683/progressive-hereditary-spastic-paraplegia-caused-by-a-homozygous-ky-mutation
#13
Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older patients. Most had atrophy of the lateral aspects of the tongue and few had intellectual disability. Nerve conduction velocity, electromyography and head and spinal cord magnetic resonance imaging were normal in tested subjects. Muscle biopsy showed occasional central nuclei and fiber size variability with small angular fibers...
August 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28487784/respiratory-failure-due-to-severe-obesity-and-kyphoscoliosis-in-a-24-year-old-male-with-molecularly-confirmed-prader-willi-syndrome-in-tertiary-hospital-in-northern-tanzania
#14
Elichilia R Shao, Lucas F Kiyegi, Amos O Mwasamwaja, Kajiru Kilonzo, Ben C J Hamel
Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS). We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly confirmed PWS case in Sub-Saharan Africa outside South Africa.
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28473936/ischiospinal-dysostosis-in-a-child-with-pierre-robin-syndrome
#15
Mahmoud Almasri, Waleed Kishta, Fahad H Abduljabbar, Vincent Arlet, Neil Saran, Jean Oullet
Ischiospinal Dysostosis (ISD) is a complex and very rare medical entity. It is associated with kyphoscoliosis, dysplasia or aplasia of the ischial rami, segmental anomalies of the bony vertebrae, and peculiar facial morphologies. In this case report, we present a child with Ischiospinal Dysostosis and Pierre-Robin Syndrome. This case report is unique as we followed the patient for 13 years in which he had multiple spinal procedures to treat his kyphoscoliosis. In this paper, we elucidated the number of case reports with documented follow-up regarding spinal cord injury or other complications of ISD and its management...
2017: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/28463628/microcomputed-tomographic-morphometric-and-histopathologic-assessment-of-congenital-bone-malformations-in-two-neotropical-viperids
#16
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/28447148/absent-pedicles-in-campomelic-dysplasia
#17
Michael M McDowell, Ozgur Dede, Patrick Bosch, Elizabeth C Tyler-Kabara
OBJECTIVES: The objective of the present study is to report a case of campomelic dysplasia illustrating the absence of cervical and thoracic pedicles. This report reiterates the importance of this clinical peculiarity in the setting of spine instrumentation. MATERIALS AND METHODS: A 10-year-old female patient with campomelic dysplasia presented with progressive kyphoscoliosis and signs of neural compromise. Imaging studies confirmed thoracic level stenosis and demonstrated absence of multiple pedicles in cervical and thoracic spine...
April 26, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28441314/radiologic-parameters-can-affect-the-preoperative-decision-making-of-three-column-spinal-osteotomies-in-the-treatment-of-severe-and-stiff-kyhposcoliosis
#18
Hengwei Fan, Xueshi Li, Zifang Huang, Wenyuan Sui, Jingfan Yang, Yaolong Deng, Chongwen Wang, Chuandong Lang, Junlin Yang
STUDY DESIGN: Retrospective analysis. OBJECTIVE: To evaluate radiologic parameters affect spine surgeon's osteotomy choice on patients with severe and stiff thoracic kyphoscoliosis. SUMMARY OF BACKGROUD DATA: Three-column osteotomies were developed to address severe and stiff kyphoscolisis. Current choice on osteotomies based on the morphology of kyphosis, global balance and locations of the main curvature, however, quantitative basis for decision-making is still lacking...
April 24, 2017: Spine
https://www.readbyqxmd.com/read/28411391/phenotypic-expression-of-19q13-32-microdeletions-report-of-a-new-patient-and-review-of-the-literature
#19
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
#20
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...
July 2017: European Spine Journal
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