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Congenital scoliosis

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https://www.readbyqxmd.com/read/28918465/congenital-lumbar-kyphosis-with-skin-ulceration-and-osteomyelitis-in-a-myelomeningocele-child-a-case-report
#1
Benoit Vibert, Marco Turati, Pierre-Yves Rabattu, Marco Bigoni, Ahmad Eid, Aurélien Courvoisier
INTRODUCTION: Kyphosis is a frequent problem in children with spina bifida, and this deformity may cause different complications as respiratory insufficiency, bowel dysfunction, and skin ulcers. CASE REPORT: We report on a 13-year-old myelomeningocele male with a lumbar kyphoscoliosis associated to a septic skin ulceration that resulted in an acute sepsis. An X-ray revealed a kyphosis of 110° and a scoliosis of 25° between T9 and L5. The wound and blood cultures showed Staphylococcus aureus colonization, and an appropriate antibiotic therapy was started...
September 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28885330/fractional-curve-progression-with-maintenance-of-fusion-mass-in-congenital-scoliosis-an-18-year-follow-up-of-a-case-report
#2
Dong-Gune Chang, Jae Hyuk Yang, Se-Il Suk, Seung-Woo Suh, Jin-Hyok Kim, Seung-Joo Lee, Ki-Ho Na, Jung-Hee Lee
RATIONALE: The management of congenital scoliosis concentrates on early diagnosis and proper surgical treatment before the development of severe deformities. Decision making regarding the appropriate fusion levels, proper surgical treatment, and reduction amount of kyphoscoliosis is very important but difficult in the treatment of congenital scoliosis, especially in young children. PATIENT CONCERNS: We report an 11-year follow-up of revision surgery for fractional curve progression after combined anterior and posterior fusion without hemivertebra resection using pedicle screw fixation (PSF) in congenital kyphoscoliosis at age 4 years (a total 18-year follow-up)...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28885124/thoracic-spinal-cord-impingement-by-an-arachnoid-web-at-the-level-of-a-hemivertebra-case-report
#3
Molly E Hubbard, Matthew A Hunt, Kristen E Jones, David W Polly
Congenital scoliosis due to a hemivertebra requires surgical stabilization prior to skeletal maturity if rapidly progressive curve growth occurs. Here the authors present the unique case of a man who, at the age of 12 years, had undergone Harrington rod placement for stabilization of progressive congenital scoliosis due to a T-11 hemivertebra and then, at the age of 53 years, presented with acutely progressive myelopathy due to spinal cord compression from an arachnoid web at T-11 despite a solid fusion mass at the prior surgical site...
September 8, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28878612/whole-exome-sequencing-reveals-fat4-mutations-in-a-clinically-unrecognizable-patient-with-syndromic-cakut-a-case-report
#4
Amelie T van der Ven, Shirlee Shril, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Kristen M Laricchia, Monkol Lek, Velibor Tasic, Friedhelm Hildebrandt
We present the case of a patient of Macedonian origin with unilateral renal agenesis and ureterovesical junction obstruction in combination with further abnormalities including midface hypoplasia, scoliosis as well as camptodactyly of one toe. Whole-exome sequencing analysis revealed compound heterozygous variants in the FAT4 gene. Recessive variants in FAT4 are a known cause of van Maldergem syndrome (VMS) in which congenital anomalies of the kidney and urinary tract are a less characteristic but common feature...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28837459/the-crankshaft-phenomenon
#5
Robert F Murphy, James F Mooney
The crankshaft phenomenon, a progressive rotational and angular spinal deformity that can occur after posterior spinal surgery, has been reported in pediatric patients with idiopathic, congenital, and neuromuscular scoliosis. In the skeletally immature patient, the crankshaft phenomenon is thought to occur secondary to continued growth of the anterior elements of the spine after solid posterior spinal fusion. The condition has also been reported in the setting of newer, so-called growth-friendly posterior distraction-based spinal instrumentation...
September 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/28833506/a-case-of-congenital-lipomatous-overgrowth-vascular-malformations-epidermal-nevi-spinal-skeletal-anomalies-and-or-scoliosis-syndrome-with-lipoatrophy-as-an-important-clinical-manifestation
#6
Ariane Schreiber, Pierre-Olivier Grenier, Isabelle Auger
Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome is a PIK3CA-related overgrowth spectrum presenting with congenital, asymmetric, disproportionate overgrowth associated with dysregulated adipose tissue, enlarged bony structures, and mixed primarily truncal vascular malformations. We present this case to raise awareness that very thin body habitus (lipoatrophy) contrasting with areas of overgrowth can be an important clinical feature of this syndrome and, if not recognized, can lead to unnecessary investigations...
August 22, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28816828/coronal-decompensation-after-posterior-only-thoracolumbar-hemivertebra-resection-and-short-fusion-in-young-children-with-congenital-scoliosis
#7
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
#8
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
#9
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
#10
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
#11
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...
October 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28754454/clinical-spectra-of-neuromuscular-manifestations-in-patients-with-lipodystrophy-a-multicenter-study
#12
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
#13
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
#14
Khristopher M Nguyen, Snehal Vala, Sarah S Milla, Lokesh Guglani
No abstract text is available yet for this article.
July 25, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28740838/a-rare-case-of-centronuclear-myopathy-with-dnm2-mutation-genotype-phenotype-correlation
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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