Search results for "scoliosi"
showing 10 items of 71 documents
Radiological Assessment of Pediatric Scoliosis Patients
2021
Nosaukums: Radioloģiskais izmeklējums pediatriskiem pacientiem ar skoliozi Autore: Saara Anni Susanna Suomalainen, medicīnas studente Darba vadītājs: Dr. med. Paulis Laizāns un Dr. med. Jānis Upenieks Priekšvēsture : Skolioze ir sānu novirze, kas pārsniedz 10 grādus no normāla mugurkaula, mērot pēc rentgenogrammas, un tāpēc, ka sānu līkne ir saistīta ar skriemeļu rotāciju līknes iekšienē, rodas trīsdimensiju deformācija. Idiopātiskā skolioze bērnu populācijā ir sadalīta trīs vecuma grupās - zīdaiņu, bērnu un pusaudžu. Radiogrāfiskais novērtējums ir galīgās diagnozes pīlārs. Labi uzņemtos rentgenogrammās var novērtēt segmentācijas anomāliju raksturojumu, izliekumu veidu un to elastību, kā ar…
From genetics to epigenetics to unravel the etiology of adolescent idiopathic scoliosis.
2020
Scoliosis is defined as the three-dimensional (3D) structural deformity of the spine with a radiological lateral Cobb angle (a measure of spinal curvature) of ≥10° that can be caused by congenital, developmental or degenerative problems. However, those cases whose etiology is still unknown, and affect healthy children and adolescents during growth, are the commonest form of spinal deformity, known as adolescent idiopathic scoliosis (AIS). In AIS management, early diagnosis and the accurate prediction of curve progression are most important because they can decrease negative long-term effects of AIS treatment, such as unnecessary bracing, frequent exposure to radiation, as well as saving the…
Autosomal recessive variations of TBX6 , from congenital scoliosis to spondylocostal dysostosis
2017
International audience; Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidate gene for SDV. In a published cohort of patients with congenital scoliosis (CS), TBX6 haploinsufficiency was compound heterozygous with a common haplotype. Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6. These observations questioned both on the inheritance mode and on the variable expressivity associated with TBX6-associated SDV. Based on a national recruitment …
Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.
2016
Abstract Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications. We…
Association between ribs shape and pulmonary function in patients with Osteogenesis Imperfecta
2019
Graphical abstract
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
2018
ObjectiveTo describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified.MethodsPatients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened for BIN1 mutations. Clinical, histologic, radiologic, and genetic features were analyzed.ResultsEighteen patients from 13 families carried the p.Arg234Cys variant; 16 of them were homozygous for it and 2 had compound heterozygous p.Arg234Cys/p.Arg145Cys mutations. Both BIN1 variants have only been identified in Roma, causing 100% of CNM in this ethnic group in our cohort. The haplotype analysis confi…
Retrospective review of L3 myelomeningocele in three age groups: should posterolateral iliopsoas transfer still be indicated to stabilize the hip?
2005
The data from 58 hips in 29 myelodysplastic children with L3 paralysis has been reviewed retrospectively. Posterolateral transfer of the iliopsoas (Sharrard technique) was performed on all hips to correct muscle imbalance between 1975 and 1992. The average length of follow-up was 21 years. Preoperatively, 58.6% of the hips were either subluxated or dislocated (these were surgically reduced at the same stage). Radiological assessment revealed that 91.4% of the hips were stable at preschool age and 84.5% in adolescence. Of the patients 86% were functional walkers at preschool age and 75.8% in adolescence. Downward transitions in seven patients were related to the presence of scoliosis, spasti…
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications
2020
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.(Ser493Cys), and the oldest known individual age 53 years. The KOGS phenotype includes characteristic facial features, tall stature, scoliosis, hyperelastic thin skin, lipodystrophy, variable intellectual and neurological deterioration, and abnormalities on brain imaging. Long-term outcome is unknown. Our cases confirm the phenotypic spectrum includes progressive flexion contrac…
Reducing Body Myopathy with Cytoplasmic Bodies and Rigid Spine Syndrome: A Mixed Congenital Myopathy
2001
At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. He had three muscle biopsies from three different muscles at ages 7, 11, and 14 years, respectively. Myopathologically, these muscle tissues contained numerous inclusions which, at the ultrastructural level, turned out to be reducing bodies and cytoplasmic bodies, often in close spatial proximity. Similar histological inclusions, although not further identified by histochemistry and electron microscopy, were seen in his maternal grandmother's biopsied muscle tissue who had d…
HETEROGENEITY OF METATROPIC DYSPLASIA
1983
Metatropic dysplasia is a neonatally manifest entity that is characterized clinically by a rapidly progressing kyphoscoliosis leading to severe shortening of the originally long trunk ("metatropism"). Major radiographic features include flattening and defective ossification of the vertebral bodies, a narrow thorax and a marked hypoplasia of the basilar portions of the ilia with crescent-shaped iliac crests. There is some evidence of genetic heterogeneity. From five personal observations and from a review of the literature we conclude that metatropic dysplasia comprises at least three genetic entities: (1) a nonlethal type with autosomal recessive transmission; (2) a nonlethal dominant type …