Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments

ConclusionOssification of the origin and attachment of muscles seems to be part of the phenotype in patients with OI type V.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Filomena Corbo1†, Giacomina Brunetti2*†, Pasquale Crupi3, Sara Bortolotti4, Giuseppina Storlino4, Laura Piacente5, Alessia Carocci1, Alessia Catalano1, Gualtiero Milani1, Graziana Colaianni4, Silvia Colucci2, Maria Grano4, Carlo Franchini1, Maria Lisa Clodoveo6, Gabriele D'Amato7 and Maria Felicia Faienza5 1Department of Pharmacy-Drug science, University of Bari Aldo Moro, Bari, Italy 2Section of Human Anatomy and Histology, Department of Basic and Medical Sciences, Neurosciences and Sense Organs, University of Bari Aldo Moro, Bari, Italy 3CREA-VE, Council for Agricultural Research and Economics&ndas...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Abstract Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C > T mutation in IFITM5. The oro-dental and craniofacial phenotype has not been described in detail, which we therefore undertook to evaluate in a multicenter study (Brittle Bone Disease Consortium). Fourteen individuals with OI type V (age 3-50 years; 10 females, 4 males) underwent dental and craniofacial assessment. None of the individuals had dentinogenesis imperfecta. Six of the 9 study participants (66%) for whom panoramic radiographs were obtained had at least one missing tooth (range ...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Introduction/Background: Osteogenesis imperfecta is a hereditary connective tissue disorder, resulting in low bone mass and high bone fragility. Dual-energy X-ray absorptiometry (DXA) and in adulthood also the trabecular bone score (TBS) are well established to assess bone health and fracture risk. The purpose of this investigation was to assess the usefulness of TBS in respect to different treatment regimes in children with osteogenesis imperfecta. Changes of areal bone mineral density (aBMD) and TBS using DXA scans of children treated with antiresorptive therapies were evaluated.
Source: Journal of Clinical Densitometry - Category: Radiology Authors: Source Type: research
Rationale: Progressive restriction of the spinal bio-mechanics is not-uncommon deformity encountered in spine clinics. Congenital spinal fusion as seen in Klippel-Feil-anomaly, progressive non-infectious anterior vertebral fusion, and progressive spinal hyperostosis secondary to ossification of the anterior longitudinal spinal ligament are well delineated and recognized. Patient concerns: A 24-year-old girl has history of osteoporosis since her early childhood, associated with multiple axial and appendicular fractures and scoliosis. Recently she presented with episodes of severe back pain, spinal rigidity/stiffness wi...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
AbstractVertebral fractures are common in children with osteogenesis imperfecta (OI). Current imaging methods for fracture detection (X-ray and DXA) use ionising radiation. This pilot study explored whether the alteration in blood flow in vertebral fractures results in skin temperature changes that may be detected using high resolution thermal imaging (HRTI) and thus assist diagnosis and monitoring of fractures in OI patients. Eleven participants aged 5 –18 years with OI and known vertebral fractures were enrolled. Small metal discs were placed on the skin surface alongside the vertebrae before participants had ...
Source: Medical and Biological Engineering and Computing - Category: Biomedical Engineering Source Type: research
Abstract Osteogenesis imperfecta (OI) is an inherited disorder with osteoporosis and recurrent fractures. Children presenting with recurrent fractures and bowing of limbs have severe form of the disorder. Patients carrying homozygous WNT1 mutations have more frequent fractures while heterozygous carriers of the mutation in WNT1 gene are also found to have early onset osteoporosis. We identified a family with novel WNT1 mutation. The index case, a 6 month old child presented with fractures from early infancy. Next generation sequencing (NGS)done for the child didn't show any variations in other OI genes including C...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
ConclusionType V OI patients requiring surgical intervention for scoliosis correction can safely undergo posterior instrumented fusion using sublaminar wiring and pedicle hook/screw constructs without apparent risk of HPC formation around neural elements. Surgery in this patient group remains challenging due to the associated poor bone quality.Level of evidenceV.
Source: European Spine Journal - Category: Orthopaedics Source Type: research
This study is so important because it really gives all of us such a reasonable goal. Can we give it our strongest effort for one to two minutes a day? I think we can. It also shows that if we make a small, measurable, but regular change, we can all dance, run, jog, jump, or hop our way to better health! The post Exercise: Can a few minutes a day keep a hip fracture away? appeared first on Harvard Health Blog.
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Exercise and Fitness Health Osteoporosis bone health brittle bones Source Type: blogs
We present the case of a 33-year old woman with osteogenesis imperfecta (OI) with progressive hearing loss and persisting vertigo. On CT-scan, symmetric extensive lucency in the pericochlear bony otic capsule and promontorium was demonstrated. The MRI-scan demonstrated symmetric areas of increased signal intensity on the T2-images with moderate contrast enhancement in the same regions. These findings correlate histologically by undermineralized thickened bone, the hallmark of OI. Hearing loss is an important clinical feature in patients with OI. The value of temporal bone imaging lies in additional confirmation of the diag...
Source: Journal of the Belgian Society of Radiology - Category: Radiology Source Type: research
AbstractA lot of research was conducted on the use of various biomaterials in orthopedic surgery. Our study investigated the effects of nanostructured calcium –phosphate coating on metallic implants introduced into the bone marrow canal. Stainless steel or titanium 2-mm wires (groups 1 and 2, respectively), and hydroxyapatite-coated stainless steel or titanium wires of the same diameter (groups 3 and 4, respectively) were introduced into the tibial bone marrow canal of 20 dogs (each group = 5 dogs). Hydroxyapatite coating was deposited on the wires with the method of microarc oxidation. Light microscopy to ...
Source: Strategies in Trauma and Limb Reconstruction - Category: Orthopaedics Source Type: research
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