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Early-Onset Scoliosis

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https://www.readbyqxmd.com/read/29226947/phenotype-expansion-and-development-in-kosaki-overgrowth-syndrome
#1
P Gawliński, M Pelc, E Ciara, S Jhangiani, E Jurkiewicz, T Gambin, A Różdżyńska-Świątkowska, M Dawidziuk, Z H C Akdemir, D Lys Guilbride, D Muzny, J R Lupski, M Krajewska-Walasek
We expand the KOGS phenotype by over 70% to include 24 unreported KOGS symptoms, in a first male patient, the third overall associated with the PDGFRB c.1751C>G, p.(Pro584Arg) mutation. 18 of these symptoms are unique to our patient, the remaining 6 are shared with other patients. Of the 24 unreported features overall, 6 show marked phenotype evolution and varying time of onset. The triangular face detected at 14 months and long palpebral fissures with lateral ectropion at 4 years are present in other members of the cohort...
December 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29212690/quantifying-the-law-of-diminishing-returns-in-magnetically-controlled-growing-rods
#2
A Ahmad, T Subramanian, P Panteliadis, J Wilson-Macdonald, D A Rothenfluh, C Nnadi
AIMS: Magnetically controlled growing rods (MCGRs) allow non-invasive correction of the spinal deformity in the treatment of early-onset scoliosis. Conventional growing rod systems (CGRS) need repeated surgical distractions: these are associated with the effect of the 'law of diminishing returns'. The primary aim of this study was to quantify this effect in MCGRs over sequential distractions. PATIENTS AND METHODS: A total of 35 patients with a maximum follow-up of 57 months were included in the study...
December 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/29190173/detection-of-bacteria-colonizing-titanium-spinal-implants-in-children
#3
Leonie Wagner, Lena Braunschweig, Helmut Eiffert, Konstantinos Tsaknakis, Dirk Kamin, Elisa D'Este, Philipp K Messer, Anna Kathrin Hell, Heiko M Lorenz
BACKGROUND: Bacterial colonization of spinal implants may cause severe complications in patients with early-onset scoliosis. Correct diagnosis and detection of microbiologic formation is crucial to prevent delayed infections caused by bacterial colonization. The purposes of this study were to estimate the rate and risk factors of colonization of vertical expandable prosthetic titanium rib (VEPTR) implants in children and to compare the different methods for detecting microbiologic formation on the spinal implants...
November 30, 2017: Surgical Infections
https://www.readbyqxmd.com/read/29182111/the-effect-of-distraction-based-growth-friendly-spinal-instrumentation-on-growth-in-early-onset-scoliosis
#4
M B Balioğlu, Y Atici, A Albayrak, D Kargin, Y E Akman, M A Kaygusuz
The present study assessed the advantages and disadvantages of growth-friendly spinal instrumentation surgery for early-onset scoliosis in 17 patients who underwent this surgery with a minimum 2-year follow-up. The mean number of lengthening procedures was three, initial age at which surgery was performed was 108.1 ± 30.2 months, and follow-up duration was 40.6 ± 16.6 months. Spinal height (T1-S1 and T1-T12), lung space available, major Cobb angle for scoliosis, maximum thoracic kyphosis, lumbar lordosis, shoulder and pelvic balance, and coronal and sagittal balance were assessed preoperatively and at the last follow-up...
December 2016: Acta Orthopaedica Belgica
https://www.readbyqxmd.com/read/29170849/myh7-mutation-associated-with-two-phenotypes-of-myopathy
#5
Nan Li, Zhe Zhao, Hongrui Shen, Qi Bing, Xuan Guo, Jing Hu
The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD). Here we report two cases whose diagnosis was hereditary myopathy according to clinical feature and muscle pathology analysis. High-throughput genomic sequencing (next generation sequencing) was performed to validate the diagnosis...
November 24, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29164086/a-novel-missense-mutation-of-the-nsd1-gene-associated-with-overgrowth-in-three-generations-of-an-italian-family-case-report-differential-diagnosis-and-review-of-mutations-of-nsd1-gene-in-familial-sotos-syndrome
#6
Gianluigi Laccetta, Francesca Moscuzza, Angela Michelucci, Andrea Guzzetta, Sara Lunardi, Francesca Lorenzoni, Paolo Ghirri
Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th-50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile) showing cryptorchidism on the right side, hypertelorism, dolichocephaly, broad and prominent forehead, and narrow jaw; the pregnancy was worsened by maternal preeclampsia and gestational diabetes, and his mother had a previous history of four early miscarriages...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29064871/best-practice-guidelines-for-surgical-site-infection-prevention-with-surgical-treatment-of-early-onset-scoliosis
#7
Michael P Glotzbecker, Tricia A St Hilaire, Jeff B Pawelek, George H Thompson, Michael G Vitale
BACKGROUND: Postoperative surgical site infection (SSI) is unfortunately a commonly encountered complication in the surgical treatment of children with Early Onset Scoliosis (EOS). There is documented variation in the treatment of this patient population. Previous work building consensus for the approach to high risk patients (eg, neuromuscular etiology) has been promising. The goal of the current study is to apply similar principles to develop consensus-based guidelines for the treatment of patients with EOS...
October 23, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29049269/long-term-surgical-outcomes-after-early-definitive-spinal-fusion-for-early-onset-scoliosis-with-neurofibromatosis-type-1-at-mean-follow-up-of-14-years
#8
Ryoji Tauchi, Noriaki Kawakami, Michael Anton Castro, Tetsuya Ohara, Toshiki Saito, Kazuaki Morishita, Ippei Yamauchi
BACKGROUND: Several authors mentioned surgical outcome for scoliosis associated with neurofibromatosis type 1 (NF-1). However, no studies have summarized long-term surgical outcomes after surgical treatment of early-onset scoliosis (EOS) with NF-1. The purpose of this study is to evaluate the long-term surgical outcome after early definitive spinal fusion for EOS in NF-1 patients. METHODS: We performed a retrospective review on a cohort of 11 patients diagnosed with EOS associated with NF-1 between 1990 and 2009 in our hospital...
October 18, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29049087/raising-mean-arterial-pressure-alone-restores-20-of-intraoperative-neuromonitoring-losses
#9
Joshua Yang, David L Skaggs, Priscella Chan, Suken A Shah, Michael G Vitale, Geraldine Neiss, Nicholas Feinberg, Lindsay M Andras
STUDY DESIGN: Multicenter prospective. OBJECTIVE: To assess the effect of intraoperative interventions in restoring intraoperative neuromonitoring (IONM) signals in pediatric spine surgery. SUMMARY OF BACKGROUND DATA: No prior studies have prospectively examined the rate of return of IONM signals by increasing blood pressure (BP) alone. METHODS: Patients undergoing posterior spinal deformity surgery were enrolled at their preoperative appointment...
October 18, 2017: Spine
https://www.readbyqxmd.com/read/29016427/comparison-of-intended-lengthening-of-magnetically-controlled-growing-rods-ultrasound-versus-x-ray
#10
Mutlu Cobanoglu, Suken A Shah, Peter Gabos, Kenneth Rogers, Petya Yorgova, Geraldine Neiss, Leslie Grissom, William G Mackenzie
BACKGROUND: In the treatment of early onset scoliosis (EOS), there has been a trend to use magnetically controlled growing rods (MCGR) in order to reduce the number of surgeries. To confirm the amount of lengthening, spine radiographs were required. Recently, ultrasound (US) has been added to monitor lengthening of MCGR to avoid radiation exposure. Our aim was to determine whether US is as accurate as plain radiography (x-ray) in determining the amount of length achieved at individual MCGR lengthening episodes...
October 9, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28984540/evolution-of-the-postoperative-sagittal-spinal-profile-in-early-onset-scoliosis-is-there-a-difference-between-rib-based-and-spine-based-growth-friendly-instrumentation
#11
Zhonghui Chen, Song Li, Yong Qiu, Zezhang Zhu, Xi Chen, Liang Xu, Xu Sun
OBJECTIVE Although the vertical expandable prosthetic titanium rib (VEPTR) and growing rod instrumentation (GRI) encourage spinal growth via regular lengthening, they can create different results because of their different fixation patterns and mechanisms in correcting scoliosis. Previous studies have focused comparisons on coronal plane deformity with minimal attention to the sagittal profile. In this retrospective study, the authors aimed to compare the evolution of the sagittal spinal profile in early-onset scoliosis (EOS) treated with VEPTR versus GRI...
October 6, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28960046/a-mild-form-of-cog5-defect-showing-early-childhood-onset-friedreich-s-ataxia-like-phenotypes-with-isolated-cerebellar-atrophy
#12
Young Ok Kim, Misun Yun, Jae Ho Jeong, Seong Min Choi, Seul Kee Kim, Woong Yoon, Chungoo Park, Yeongjin Hong, Young Jong Woo
Progressive cerebellar ataxias are rare diseases during childhood, especially under 6 years of age. In a single family, three affected siblings exhibited Friedreich's-ataxia-like phenotypes before 2 years of age. They had progressive cerebellar atrophy, intellectual disability, and scoliosis. Although their phenotypes were similar to those observed in patients with autosomal recessive cerebellar ataxias, other phenotypes (e.g., seizure, movement disorders, ophthalmologic disturbance, cardiomyopathy, and cutaneous disorders) were not noted in this family...
November 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28926385/graduation-protocol-after-growing-rod-treatment-removal-of-implants-without-new-instrumentation-is-not-a-realistic-approach
#13
Ismail Aykut Kocyigit, Z Deniz Olgun, H Gokhan Demirkiran, Mehmet Ayvaz, Muharrem Yazici
BACKGROUND: The growing rod remains an effective option in the treatment of early-onset scoliosis, and has previously been likened to an internal brace. While details of growing-rod treatment have been largely agreed on, the appropriate end point remains a matter of controversy. A decision was made in 2004, at the beginning of growing-rod treatment at our institution, to remove longitudinal instrumentation when the period of lengthening concluded and, similar to discontinuing a brace, leave the spine free...
September 20, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28887681/pediatric-spine-imaging-post-scoliosis-surgery
#14
Alaa N Alsharief, Ron El-Hawary, Pierre Schmit
Many orthopedic articles describe advances in surgical techniques and implants used in pediatric scoliosis surgery. However, even though postoperative spine imaging constitutes a large portion of outpatient musculoskeletal pediatric radiology, few, if any, radiology articles discuss this topic. There has been interval advancement over the last decades of the orthopedic procedures used in the treatment of spinal scoliosis in adolescents with idiopathic scoliosis. The goal of treatment in these patients is to stop the progression of the curve by blocking the spinal growth and correcting the deformity as much as possible...
September 8, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28882351/psychological-profile-of-children-who-require-repetitive-surgical-procedures-for-early-onset-scoliosis-is-a-poorer-quality-of-life-the-cost-of-a-straighter-spine
#15
Cihan Aslan, Z Deniz Olgun, Erkan Sabri Ertas, Seniz Ozusta, Gokhan Demirkiran, Fatih Unal, Muharrem Yazici
STUDY DESIGN: Cross-sectional study. OBJECTIVE: Assess the psychosocial status of children with early-onset scoliosis (EOS) undergoing multiple procedures and evaluate associations with other variables. SUMMARY OF BACKGROUND DATA: EOS may require repetitive surgical procedures to control deformity and preserve growth. These procedures impact patients' psychosocial status because of the repetitive surgeries. METHODS: EOS patients 6-18 years, undergoing traditional growing rod treatment with more than 5 surgical procedures, and neurologically/mentally intact were included...
September 2017: Spine Deformity
https://www.readbyqxmd.com/read/28858191/maximal-respiratory-muscle-strength-and-vital-capacity-in-children-with-early-onset-scoliosis
#16
Gregory Redding, O Henry Mayer, Klane White, Viviana Bompadre, Julia Emerson, Walter Krengel, Robert Campbell
STUDY DESIGN: Descriptive Cross-Sectional Study. OBJECTIVE: To measure respiratory muscle function in children with EOS, determine the frequency of respiratory muscle weakness, and correlate these measures with Vital Capacity, Body Mass Index, and Cobb angle. SUMMARY OF BACKGROUND DATA: Progressive restrictive respiratory disease is common among children with moderate to severe Early Onset Scoliosis (EOS). Reduced respiratory muscle strength is associated with the loss of lung function in adolescents and adults with scoliosis...
August 29, 2017: Spine
https://www.readbyqxmd.com/read/28777282/intrawound-vancomycin-powder-associated-with-reduced-surgical-site-infection-in-rib-based-distraction-surgery
#17
Justin M Haller, John A Heflin, David A Hulet, Qian Ding, Angela P Presson, John T Smith
BACKGROUND: Despite clinical reports of improved pulmonary function and reduced spinal deformity with rib-based distraction surgery in early-onset scoliosis (EOS) patients, infection remains a common complication, reported as high as 32% in some studies. The purpose of this study was to evaluate intrawound vancomycin powder in pediatric patients managed with rib-based distraction for EOS. METHODS: This was a single institution retrospective cohort study of EOS patients treated with rib-based distraction...
August 2, 2017: Journal of Pediatric Orthopedics
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
#18
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/28687252/treatment-of-early-onset-scoliosis-with-a-hybrid-of-a-concave-magnetic-driver-magnetic-controlled-growth-rod-and-a-contralateral-passive-sliding-rod-construct-with-apical-control-preliminary-report-on-17-cases
#19
Simon T Skov, Sebastiaan P J Wijdicks, Cody Bünger, René M Castelein, Haisheng Li, Moyo C Kruyt
BACKGROUND CONTEXT: Magnetic controlled growth rods (MCGRs) are increasingly popular for surgical treatment of severe early-onset scoliosis (EOS), because they allow noninvasive extensions with good growth maintenance. We combined an MCGR with a contralateral passive sliding rod construct with apical control on the convex side to improve efficiency in terms of costs and three-dimensional (3D) correction. PURPOSE: To investigate the feasibility, 3D correction, spinal growth, and complications of the apical control MCGR sliding rod hybrid...
July 4, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28671878/application-of-low-dose-stereoradiography-in-in-vivo-vertebral-morphologic-measurements-comparison-with-computed-tomography
#20
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
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