376 results match your criteria Scoliosis Infantile

Further delineation of PIGB-related early infantile epileptic encephalopathy.

Eur J Med Genet 2021 Jun 20:104268. Epub 2021 Jun 20.

Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy; Department of Pediatrics, Pediatric Neurophysiology Laboratory, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Pathogenic variants in phosphatidylinositol glycan anchor biosynthesis class B (PIGB) gene have been first described as the cause of early infantile epileptic encephalopathy 80 (EIEE-80) in 2019. This disorder, an inherited glycosylphosphatidylinositol deficiency, is associated with a complex neurologic phenotype, including developmental delay, early-onset epilepsy and peripheral neuropathy. We report on a 5 year-old girl born from consanguineous parents, manifesting severe global developmental delay with absent speech, mixed peripheral polyneuropathy, hypotonia, bilateral equino-varo-supinated-cavus foot, early-onset scoliosis, elevated serum alkaline phosphatase and a single episode of febrile status epilepticus. Read More

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Efficacy of bracing in early infantile scoliosis: a 5-year prospective cohort shows that idiopathic respond better than secondary-2021 SOSORT award winner.

Eur Spine J 2021 Jun 6. Epub 2021 Jun 6.

ISICO (Italian Scientific Spine Institute), Milan, Italy.

Purpose: In conservative early onset scoliosis treatment, interest in bracing is growing because repeated general anaesthesia (required by casting) has been questioned for possible brain damages. We aimed to check the results in the medium term of bracing, comparing idiopathic (IIS) to secondary (SIS) infantile scoliosis.

Methods: We performed a retrospective study in a consecutive prospective cohort. Read More

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Early dynamic changes within the spine following posterior fusion using hybrid instrumentation in adolescents with idiopathic scoliosis: a gait analysis study.

Arch Orthop Trauma Surg 2021 May 18. Epub 2021 May 18.

Pediatric Orthopedics, Timone Enfants, Aix Marseille University, 264 rue Saint Pierre, 13005, Marseille, France.

Introduction: In adolescent idiopathic scoliosis (AIS) patients, mechanical consequences of posterior spinal fusion within the spine remain unclear. Through dynamic assessment, gait analysis could help elucidating this particular point. The aim of this study was to describe early changes within the spine following fusion with hybrid instrumentation in adolescents with idiopathic scoliosis, using gait analysis MATERIALS AND METHODS: We conducted a single-centre prospective study including AIS patients scheduled for posterior spinal fusion (PSF) using hybrid instrumentation with sublaminar bands. Read More

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Clinical and genetic characteristics of Chinese patients with reducing body myopathy.

Neuromuscul Disord 2021 May 12;31(5):442-449. Epub 2021 Feb 12.

Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China. Electronic address:

Reducing body myopathy (RBM) is a rare myopathy characterized by reducing bodies (RBs) in morphological presentation. The clinical manifestations of RBM present a wide clinical spectrum, varying from infantile lethal form through childhood and adult benign forms. FHL1 gene is the causative gene of RBM. Read More

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The Demographics and Epidemiology of Infantile, Juvenile, and Adolescent Idiopathic Scoliosis in a Southern California Integrated Healthcare System.

Spine (Phila Pa 1976) 2021 Apr 1. Epub 2021 Apr 1.

The University of Miami Leonard M. Miller School of Medicine, Department of Education, 1600 NW 10th Ave #1140, Miami, FL 33136 University of California, Irvine, School of Medicine, 1001 Health Sciences Rd, Irvine, CA 92617 University of Virginia School of Medicine, 1215 Lee St, Charlottesville, VA 22908 Kaiser Los Angeles Medical Center Department of Orthopedics, Los Angeles, CA 90027.

Study Design: prognostic study, Level III.

Objective: (1) To determine the incidence and demographics of idiopathic scoliosis (IS) in a large cohort of children in a Southern California integrated healthcare system, (and 2) identify the demographic or clinical factors associated with the greatest risk of IS.

Summary Of Background Data: Although many authors have reported on the incidence and prevalence of IS in children, there have been few incidence studies in the United States on large, self-contained populations. Read More

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A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia.

Cureus 2021 Feb 6;13(2):e13174. Epub 2021 Feb 6.

Internal Medicine: Diabetes and Endocrinology, Institute of Diabetology, Stanley Medical College & Hospital, Chennai, IND.

The gene PTRH2 encodes a protein with peptidyl-tRNA hydrolase activity and is involved in the translation process in protein synthesis. The kinesin family member 1-A (KIF1A) gene encodes a molecular motor involved in axonal transport along microtubules. Mutations in these genes lead to respective phenotypical conditions that have been reported in the literature. Read More

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February 2021

Index radiographic measurements in the prediction of progression in infantile idiopathic scoliosis: a comparative analysis and description of a novel predictive model.

Eur Spine J 2021 Mar 9. Epub 2021 Mar 9.

The Royal Orthopaedic Hospital NHS Foundation Trust, Birmingham, UK.

Purpose: To assess the comparative accuracy of commonly utilised index radiological measurements in the prognosis of infantile idiopathic scoliosis (IIS) and build a parsimonious prognostic model utilising these measurements.

Methods: This was a retrospective analysis of a UK population of patients with IIS. Index radiological parameters were analysed, and outcome of their condition was determined over long-term follow-up. Read More

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Adult phenotype in Koolen-de Vries/ haploinsufficiency syndrome.

J Med Genet 2020 Dec 24. Epub 2020 Dec 24.

Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Roma, Italy

Background: Koolen-de Vries syndrome (KdVS) is a multisystem neurodevelopmental disorder caused by 17q21.31 deletions or mutations in . It was mainly described in children. Read More

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December 2020

Posterior vertebral column resection for pediatric rigid spinal deformity.

Orthop Traumatol Surg Res 2020 Dec 14:102797. Epub 2020 Dec 14.

Service de chirurgie orthopédique infantile, CHU de Robert-Debré, Paris, France.

Introduction: Surgery for pediatric spinal deformity may involve vertebral osteotomies in complex cases. Vertebral column resection (VCR) is the most technically demanding procedure, with the severest morbidity. It can use a double anterior and posterior approach (APVCR), though a single posterior approach (PVCR) is gaining in popularity. Read More

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December 2020

Infantile Idiopathic Scoliosis: Outcomes of Brace Treatment until Skeletal Maturity or Spinal Fusion.

Arch Bone Jt Surg 2020 Nov;8(6):696-702

Department of Orthopaedic Surgery, Shafa Yahyaiian ospital, Iran University of Medical Sciences, Tehran, Iran.

Background: Serial casting under general anesthesia, which is considered as a gold standard of treatment for patients with infantile idiopathic scoliosis (IIS), can lead to significant negative neurodevelopmental effects. Therefore, the appropriateness of this type of treatment is controversial. Brace treatment is one alternative method of treatment for IIS patients. Read More

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November 2020

Long-term follow-up of patients with infantile idiopathic scoliosis: is the rib vertebra angle difference (RVAD) a reliable indicator of evolution?

Spine Deform 2021 Mar 2;9(2):579-585. Epub 2020 Nov 2.

The Royal Orthopaedic Hospital NHS Foundation Trust, Birmingham, UK.

Purpose: Since its original description by Mehta, the rib vertebra angle difference (RVAD) and, in particular, a threshold of 20° have become an accepted and widely utilised prognostic indicator in the assessment of patients presenting with an infantile idiopathic scoliosis (IIS). However, uncertainty in the utility of the RVAD in the prognosis of IIS remains. The aims of this study were to investigate the prognostic significance of the RVAD and to describe the changes in RVAD over long-term follow-up of patients with progressive and resolving IIS. Read More

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Role of Body Cast Application for Scoliosis Associated With Prader-Willi Syndrome.

J Pediatr Orthop 2021 Apr;41(4):e321-e327

Shriners Hospital for Children, Philadelphia, PA.

Background: Prader-Willi syndrome (PWS) is a rare genetic syndrome, with a prevalence of infantile scoliosis of ~23%. These curves are likely related to severe hypotonia. Approximately 15% of children with PWS will need surgical intervention for their scoliosis. Read More

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Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.

Am J Med Genet A 2020 11 1;182(11):2675-2679. Epub 2020 Sep 1.

Struttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

The CAMK2B gene encodes the β-subunit of calcium/calmodulin-dependent protein kinase II (CAMK2), an enzyme that has crucial roles in synaptic plasticity, especially in hippocampal and cerebellar neurons. Heterozygous variants in CAMK2B cause a rare neurodevelopmental disorder, with 40% of the reported cases sharing the same variant: c.416C>T, p. Read More

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November 2020

[Conservative and surgical treatment of idiopathic scoliosis].

Orthopade 2020 Jul;49(7):635-646

Klinik für Kinderorthopädie und Kindertraumatologie, Helios Klinikum Emil von Behring, Walterhöferstr. 11, 14165, Berlin, Deutschland.

Idiopathic scoliosis is the largest group of all forms of scoliosis in the growth phase accounting for 80-90%. A distinction is made between idiopathic infantile (0-3 years), juvenile (4-10 years) and adolescent scoliosis (>10 years), depending on the age when scoliosis appears. The treatment depends on the skeletal age, the Cobb angle and the progression behavior of scoliosis. Read More

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Casting in infantile idiopathic scoliosis as a temporising measure: A systematic review and meta-analysis.

SAGE Open Med 2020 26;8:2050312120925339. Epub 2020 May 26.

Service of Pediatric Orthopaedics, Department of Child and Adolescent, University Hospital of Geneva, Geneva, Switzerland.

Objective: Treatment of infantile idiopathic scoliosis remains vague. Because implantation of temporary telescopic devices carries a high risk of complications, interest in the older technique of serial casting is growing as a temporising measure before invasive procedures. The goal of this review was to meta-analyse studies examining the effect and safety of casting in infantile idiopathic scoliosis. Read More

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Awake serial body casting for the management of infantile idiopathic scoliosis: is general anesthesia necessary?

Spine Deform 2020 10 7;8(5):1109-1115. Epub 2020 May 7.

Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Study Design: It is a retrospective cohort study.

Objectives: To compare the radiographic and clinical outcomes of serial body casting for infantile idiopathic scoliosis (IIS) with versus without the use of general anesthesia (GA). Serial body casting for IIS has traditionally been performed under GA. Read More

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October 2020

MRI utilization and rates of abnormal pretreatment MRI findings in early-onset scoliosis: review of a global cohort.

Spine Deform 2020 10 24;8(5):1099-1107. Epub 2020 Apr 24.

Department of Orthopaedic Surgery, University of California, San Diego, San Diego, CA, USA.

Study Design: Retrospective review OBJECTIVES: To report the frequency of pretreatment magnetic resonance imaging (MRI) utilization and rates and types of intra-spinal abnormalities identified on MRI in patients with early-onset scoliosis (EOS). MRI can help identify spinal cord abnormalities in patients with EOS.

Methods: We reviewed data from patients enrolled from 1993-2018 in an international EOS registry. Read More

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October 2020

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Clin Genet 2020 07 4;98(1):19-31. Epub 2020 May 4.

Centre de Génétique et Centre de référence « Anomalies du Développement et Syndromes Malformatifs », Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.

Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p. Read More

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Does static trunk motion analysis reflect its true position during daily activities in adolescent with idiopathic scoliosis?

Orthop Traumatol Surg Res 2020 Nov 20;106(7):1251-1256. Epub 2020 Mar 20.

Orthopédie infantile, hôpital d'enfants de la Timone, Aix-Marseille université, 264, rue Saint-Pierre, 13005 Marseille, France; Plateforme d'analyse de la motricité, hôpital de la Timone, Aix-Marseille université, Marseille, France.

Introduction: Adolescent idiopathic scoliosis is common condition in pediatric orthopedics that is generally analyzed with standard radiographs. However, the conditions under which the radiographs are made are completely different than the position that patients use during day-to-day activities. We hypothesized that the trunk's static position differs from its dynamic one. Read More

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November 2020

Serial elongation derotation flexion casting in children with infantile and juvenile scoliosis.

Ann Transl Med 2020 Jan;8(2):24

Pediatric Orthopedic Department, Clinique St. Roch, Montpellier, France.

Infantile (IS) and juvenile scoliosis (JS) are among the most challenging conditions pediatric orthopedic surgeons are facing in the present days. However, the best treatment of IS and JS is still debated and it remains controversial, at least for some aspects. Untreated early onset spinal deformities may lead to pulmonary and heart compromise. Read More

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January 2020

Posterior vertebral column resection for rigid proximal thoracic kyphoscoliosis with broken growing rods in a patient with Desbuquois dysplasia.

Spine Deform 2020 02 16;8(1):135-138. Epub 2020 Jan 16.

Department of Orthopedic Surgery, Washington University, 1 Brookings Dr, St. Louis, MO, 63130, USA.

Study Design: Case report.

Objective: To describe the importance of preoperative halo-gravity traction and posterior vertebral column resection (PVCR) for severe proximal thoracic kyphoscoliosis associated with Desbuquois dysplasia, after breakage of a growing rod construct. Desbuquois dysplasia is a rare, autosomal recessive chondrodysplasia characterized by short stature, joint laxity, kyphoscoliosis, and characteristic facial dysmorphism. Read More

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February 2020

Regulation of terminal hypertrophic chondrocyte differentiation in mutant mice modeling infantile idiopathic scoliosis.

Dis Model Mech 2019 12 17;12(12). Epub 2019 Dec 17.

Department of Pediatrics, Dell Pediatric Research Institute, 1400 Barbara Jordan Blvd, The University of Texas at Austin, Dell Medical School, Austin, TX 78723, USA

Idiopathic scoliosis (IS) is the most common type of musculoskeletal defect affecting children worldwide, and is classified by age of onset, location and degree of spine curvature. Although rare, IS with onset during infancy is the more severe and rapidly progressive form of the disease, associated with increased mortality due to significant respiratory compromise. The pathophysiology of IS, in particular for infantile IS, remains elusive. Read More

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December 2019