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Congenital scoliosis

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https://www.readbyqxmd.com/read/28816828/coronal-decompensation-after-posterior-only-thoracolumbar-hemivertebra-resection-and-short-fusion-in-young-children-with-congenital-scoliosis
#1
Song Li, Zhong-Hui Chen, Yong Qiu, Liang Xu, Xi Chen, Chang-Zhi Du, Ze-Zhang Zhu, Xu Sun
STUDY DESIGN: A retrospective study. OBJECTIVE: To determine the incidence and risk factors of coronal decompensation after posterior-only thoracolumbar hemivertebra (HV) resection and short fusion in patients younger than 5 years old. SUMMARY OF BACKGROUND DATA: Postoperative coronal decompensation may occur in operated patients during the follow-up. However, there is a paucity of valid data regarding this complication in very young patients with thoracolumbar HV...
August 14, 2017: Spine
https://www.readbyqxmd.com/read/28799527/recent-advances-in-technique-and-clinical-outcomes-of-minimally-invasive-spine-surgery-in-adult-scoliosis
#2
REVIEW
Gang Liu, Sen Liu, Yu-Zhi Zuo, Qi-Yi Li, Zhi-Hong Wu, Nan Wu, Ke-Yi Yu, Gui-Xing Qiu
OBJECTIVE: Conventional open spinal surgery of adult scoliosis can be performed from anterior, posterior, or combined approach. Minimally invasive spine surgery (MISS) was developed for the purpose of reducing the undesirable effects and complications. This review aimed to make a brief summary of recent studies of the approach and clinical outcomes of MISS in adult scoliosis. DATA SOURCES: We conducted a systematic search from PubMed, Medline, EMBASE, and other literature databases to collect reports of surgical methods and clinical outcomes of MISS in treatment of adult scoliosis...
August 9, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28792153/clinical-characteristics-of-spinal-muscular-atrophy-in-korea-confirmed-by-genetic-analysis
#3
Heewon Hwang, Jung Hwan Lee, Young Chul Choi
The objective of this study was to review the clinical characteristics of patients with spinal muscular atrophy and to emphasize the importance of performing genetic mutational analysis at initial patient assessment. This is a single center oriented, retrospective, and descriptive study conducted in Seoul, South Korea. Genetic mutational analysis to detect the deletion of exon 7 of the SMN1 gene on chromosome 5q13 was performed by multiplex ligation-dependent probe amplification. Clinical features, electrodiagnostic study results, muscle biopsy results, and laboratory test results were reviewed from patient medical records...
September 2017: Yonsei Medical Journal
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
#4
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
#5
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/28754454/clinical-spectra-of-neuromuscular-manifestations-in-patients-with-lipodystrophy-a-multicenter-study
#6
Gulcin Akinci, Haluk Topaloglu, Tevfik Demir, Ayca Ersen Danyeli, Beril Talim, Fatma Ela Keskin, Pinar Kadioglu, Enez Talip, Canan Altay, Guzin Fidan Yaylali, Habib Bilen, Banu Nur, Leyla Demir, Huseyin Onay, Baris Akinci
Lipodystrophy is a heterogeneous group of disorders characterized by loss of adipose tissue. Here, we report on clinical spectra of neuromuscular manifestations of Turkish patients with lipodystrophy. Seventy-four patients with lipodystrophy and 20 healthy controls were included. Peripheral sensorimotor neuropathy was a common finding (67.4%) in lipodystrophic patients with diabetes. Neuropathic foot ulcers were observed in 4 patients. Drop foot developed in 1 patient with congenital generalized lipodystrophy type 1...
June 1, 2017: Neuromuscular Disorders: NMD
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
#7
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/28742269/unilateral-lung-agenesis-aplasia-or-hypoplasia-which-one-is-it
#8
Khristopher M Nguyen, Snehal Vala, Sarah Milla, Lokesh Guglani
Congenital lung malformations can lead to symptoms in the immediate newborn period or early childhood, but may also be diagnosed incidentally on routine imaging or autopsy, especially if the individual has remained asymptomatic. We report a case where incidental detection of abnormal intrathoracic structures led to a different diagnosis while being evaluated for scoliosis.
July 25, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28740838/a-rare-case-of-centronuclear-myopathy-with-dnm2-mutation-genotype-phenotype-correlation
#9
REVIEW
Amir Ghorbani Aghbolaghi, Mirna Lechpammer
Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28739045/filamin-b-the-next-hotspot-in-skeletal-research
#10
REVIEW
Qiming Xu, Nan Wu, Lijia Cui, Zhihong Wu, Guixing Qiu
Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important role of FLNB in skeletal development. FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities...
July 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28728825/genetic-diseases-of-piezo1-and-piezo2-dysfunction
#11
S L Alper
Mutations in the genes encoding the mechanosensitive cation channels PIEZO1 and PIEZO2 are responsible for multiple hereditary human diseases. Loss-of-function mutations in the human PIEZO1 gene cause autosomal recessive congenital lymphatic dysplasia. Gain-of-function mutations in the human PIEZO1 gene cause the autosomal dominant hemolytic anemia, hereditary xerocytosis (also known as dehydrated stomatocytosis). Loss-of-function mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis...
2017: Current Topics in Membranes
https://www.readbyqxmd.com/read/28727996/efficacy-and-safety-of-one-stage-posterior-hemivertebral-resection-for-unbalanced-multiple-hemivertebrae-a-more-than-2-year-follow-up
#12
Yong Huang, Ganjun Feng, Yueming Song, Limin Liu, Chunguang Zhou, Lei Wang, Zhongjie Zhou, Xi Yang
OBJECTIVE: One-stage posterior hemivertebral resection has been proven to be an effective, reliable surgical option for treating congenital scoliosis due to a single hemivertebra. To date, however, no studies of treating unbalanced multiple hemivertebrae have appeared. This study evaluated the efficacy and safety of one-stage posterior hemivertebral resection for unbalanced multiple hemivertebrae. PATIENTS AND METHODS: Altogether, we studied 15 patients with unbalanced multiple hemivertebrae who had undergone hemivertebral resection using the one-stage posterior approach with at least 2 years of follow-up...
September 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28719048/developmental-mechanisms-of-intervertebral-disc-and-vertebral-column-formation
#13
REVIEW
Lisa Y Lawson, Brian D Harfe
The vertebral column consists of repeating units of ossified vertebrae that are adjoined by fibrocartilagenous intervertebral discs. These structures form from the embryonic notochord and somitic mesoderm. In humans, congenital malformations of the vertebral column include scoliosis, kyphosis, spina bifida, and Klippel Feil syndrome. In adulthood, a common malady affecting the vertebral column includes disc degeneration and associated back pain. Indeed, recent reports estimate that low back pain is the number one cause of disability worldwide...
July 18, 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/28704301/congenital-unilateral-absence-of-the-upper-extremity-may-give-rise-to-a-specific-kind-of-thoracolumbar-curve
#14
Z Deniz Olgun, Gokhan Demirkiran, David Polly, Muharrem Yazici
There is an increased incidence of scoliosis in patients with congenital malformations of the upper extremity even in the absence of overt vertebral abnormalities. In this case series, we summarize the curve characteristics of four patients presenting to two spine surgery clinics with unilateral amelia or phocomelia and a progressive scoliotic curve with the apex on the side of deficiency. All patients required orthopedic intervention for their curves. Amelia and phocomelia are severe congenital malformations of the upper limb affecting trunk balance and, conceivably, causing scoliosis with the absence of counterbalancing weight on the affected side...
July 12, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28700454/posterior-only-hemivertebra-resection-for-congenital-cervicothoracic-scoliosis-correcting-neck-tilt-and-balancing-the-shoulders
#15
Zhonghui Chen, Yong Qiu, Zezhang Zhu, Song Li, Xi Chen, Liang Xu, Xu Sun
STUDY DESIGN: A retrospective study. OBJECTIVE: To evaluate radiographic and cosmetic outcomes following posterior-only cervicothoracic hemivertebra resection and instrumentation. SUMMARY OF BACKGROUND DATA: Cervicothoracic hemivertebra is a rare congenital deformity. It locates between the mobile cervical spine and the fixed thoracic spine, leading to rapid curve progression, shoulder imbalance, fixed torticollis and facial asymmetry. METHODS: This study reviewed a consecutive series of 18 patients with cervicothoracic hemivertebra...
July 11, 2017: Spine
https://www.readbyqxmd.com/read/28671878/application-of-low-dose-stereoradiography-in-in-vivo-vertebral-morphologic-measurements-comparison-with-computed-tomography
#16
Saba Pasha, Tom Schlösser, Xiaowei Zhu, Xochitl Mellor, René Castelein, John Flynn
BACKGROUND: Though computed tomography (CT) and 3 dimensional (3D) reconstruction of the spine and ribcage are powerful techniques for detailed monitoring of spinal growth and surgical planning of patients, drawbacks can arise. We explored the application of low-dose stereoradiography of the spine to calculate distinct morphologic parameters of the vertebral body in a juvenile patient population with early-onset scoliosis or congenital scoliosis. This study compares the 3D vertebral morphology measurements using low-dose stereoradiography with the currently accepted imaging modality for such measurements, CT scans...
June 30, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28665821/spine-and-thoracic-height-measurements-have-excellent-interrater-and-intrarater-reliability-in-patients-with-early-onset-scoliosis
#17
Nicole Michael, Patrick Carry, Mark Erickson, Nikki Bloch, Steven Gibbons, Courtney O'Donnell, Sumeet Garg
STUDY DESIGN: Reproducibility of measurements OBJECTIVE.: This study investigates the reliability and standard error of measurement of spine and thoracic height radiographic measurements in patients with early onset scoliosis (EOS). SUMMARY OF BACKGROUND DATA: Spine and thoracic height radiographic measurements are often used as a surrogate for pulmonary development in patients with EOS. There is limited literature validating the reliability of spine and thoracic height measurements in the EOS population...
June 29, 2017: Spine
https://www.readbyqxmd.com/read/28660205/pneumothoraces-in-collagen-vi-related-dystrophy-a-case-series-and-recommendations-for-management
#18
Kristin L Fraser, Scott Wong, A Reghan Foley, Sameer Chhibber, Carsten G Bönnemann, Daniel J Lesser, Carla Grosmann, Anne Rutkowski
Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused by mutations in the COL6A1, COL6A2 or COL6A3 genes. The phenotypic spectrum includes early-onset Ullrich congenital muscular dystrophy, adult-onset Bethlem myopathy and an intermediate phenotype. The disorder is characterised by distal hyperlaxity and progressive muscle weakness, joint contractures and respiratory insufficiency. Respiratory insufficiency is attributed to chest wall contractures, scoliosis, impaired diaphragmatic function and intercostal muscle weakness...
April 2017: ERJ Open Research
https://www.readbyqxmd.com/read/28654575/update-on-classification-and-diagnosis-of-vascular-malformations
#19
Catherine C McCuaig
PURPOSE OF REVIEW: This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia. RECENT FINDINGS: The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified...
August 2017: Current Opinion in Pediatrics
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
#20
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
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