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kyphoscoliosis

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https://www.readbyqxmd.com/read/28669484/vertebral-anomalies-in-craniofacial-microsomia-a-systematic-review
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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-s-a-type-severe-thoracic-kyphoscoliosis
#7
Wen-Yuan Sui, Zi-Fang Huang, Yao-Long Deng, Heng-Wei Fan, Jing-Fan Yang, Fo-Bao Li, Jun-Lin Yang
OBJECT: To assess the clinical and radiographic outcomes of posterior vertebral column resection (PVCR) without anterior support in treatment of Yang's A type severe rigid thoracic kyphoscoliosis. METHODS: The records of 27 Yang's A type severe thoracic kyphoscoliosis patients treated with PVCR without anterior support from January 2010 to September 2013 were retrospectively analyzed. Intraoperative multimodal neurophysiological monitoring (IONM) (6 modes: Somatosensory evoked potential (SSEP), Motor evoked potential (MEP), Descending neurogenic evoked potential (DNEP), Spinal cord evoked potential (SCEP), and Electromyography, both triggered and free run EMG) was conducted in all patients...
May 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28488683/progressive-hereditary-spastic-paraplegia-caused-by-a-homozygous-ky-mutation
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/28346368/pathophysiological-significance-of-dermatan-sulfate-proteoglycans-revealed-by-human-genetic-disorders
#16
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
#17
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...
June 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
#18
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
#19
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
#20
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...
May 2017: European Journal of Medical Genetics
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