Search results for "osteogenesis imperfecta"
showing 10 items of 22 documents
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects
2014
et al.
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
2016
Background Primary congenital glaucoma (PCG) and early onset glaucomas are one of the major causes of children and young adult blindness worldwide. Both autosomal recessive and dominant inheritance have been described with involvement of several genes including CYP1B1, FOXC1, PITX2, MYOC and PAX6. However, mutations in these genes explain only a small fraction of cases suggesting the presence of further candidate genes. Methods To elucidate further genetic causes of these conditions whole exome sequencing (WES) was performed in an Italian patient, diagnosed with PCG and retinal detachment, and his unaffected parents. Sanger sequencing of the complete coding region of COL1A1 was performed in…
Heterogeneity of osteogenesis imperfecta. Biochemical and morphological findings in a case of type III according to Sillence.
1986
A male infant with pale-blue sclerae, who died at the age of 6 weeks through the aspiration of food, presented multiple fractures and deformation of the long tubular bones. The clinical and radiological findings and the course indicated osteogenesis imperfecta, type III, according to Sillence's classification. The family history was unremarkable. Light and electron microscopic studies of iliac crest bone obtained postmortem, showed an abrupt interruption of endochondral ossification, with an active periosteal ossification. In the region of the fractures, a mixed desmochondral callus was seen. The endoplasmic reticulum of the osteoblasts was markedly dilated, the mitochondria were swollen. T…
Osteogenesis imperfecta: a clinical study of the first ten years of life.
1992
One hundred twenty-seven children with osteogenesis imperfecta (O.I.) were studied during the first 10 years of life. According to Sillence, 40 patients were assigned to type I, 39 to type III, and 48 to type IV O.I. Centiles for height, weight, and the annual number of fractures could be established for the different types of O.I. The development of the skeletal changes could be documented for the different forms of the disease. At birth, the skeletal changes were significantly more severe in type III than in type IV patients. During the first 10 years of life the number of fractures, extent of skeletal deformities, and growth retardation did not differ between types III and IV. Only fract…
Osteogenesis imperfecta type III : oral, craniofacial characteristics and atypical radiographic findings oral
2021
Osteogenesis imperfecta (OI) is a disease characterized by decreased bone mineral density, causing susceptibility to bone fractures by mild trauma and bone deformities. The aim of this study was to describe an osteogenesis imperfecta type III clinical case, its craniofacial and oral changes as well as its atypical radiographic findings. An eighteen-year-old, male patient diagnosed with osteogenesis imperfecta type III was referred for dental evaluation; the clinical examination showed the craniofacial and oral changes of the disease such as triangular face, class III malocclusion, anterior open bite and posterior crossbite, dentinogenesis imperfecta presenting amber discoloration. The radio…
Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases
2020
For patients diagnosed with a rare musculoskeletal or neuromuscular disease, pain may transition from acute to chronic; the latter yielding additional challenges for both patients and care providers. We assessed the present understanding of pain across a set of ten rare, noninfectious, noncancerous disorders; Osteogenesis Imperfecta, Ehlers-Danlos Syndrome, Achondroplasia, Fibrodysplasia Ossificans Progressiva, Fibrous Dysplasia/McCune-Albright Syndrome, Complex Regional Pain Syndrome, Duchenne Muscular Dystrophy, Infantile- and Late-Onset Pompe disease, Charcot-Marie-Tooth Disease, and Amyotrophic Lateral Sclerosis. Through the integration of natural history, cross-sectional, retrospective…
Genetic disorders of connective tissues
1991
Due to the growing knowledge of structure and function of extracellular matrix proteins, congenital abnormalities of connective tissues are identified or suspected in an increasing number of clinical disorders. In osteogenesis imperfecta and two subtypes of Ehlers-Danlos syndrome, the affected matrix proteins were identified and mutations in the corresponding genes (procollagen type I and type III, respectively) could be demonstrated. Some forms of chondrodysplasia were shown to be associated with mutations in the gene encoding for the cartilage-specific collagen (type II). In part, the clinical phenotype is determined by the tissue-specific distribution of these collagens. However, the cor…
Metabolic bone disease and osteoporosis in children
2016
To understand the basics of pediatric bone metabolism and mechanisms underlying osteoporosis.
Collagen overglycosylation: a biochemical feature that may contribute to bone quality.
2005
Skeletal ability to resist mechanical stress is determined by bone amount and quality, which relies on macro- and micro-architecture, turnover, bone matrix, and mineralisation; the role of collagen has not been clearly elucidated. Numerous post-translational steps are involved in collagen type I biosynthesis, including residue hydroxylation and glycosylation catalysed by enzymes that work until the protein folds forming the triple helix; therefore, folding rate regulates these processes. Overglycosylated hydroxylysines are poor substrates for epsilon-amino group deamination which initiates cross-link formation. Three clinical conditions associated with fractures may relate collagen overglyc…
Dzīves kvalitāte cilvēkiem ar Osteogenesis imperfecta
2017
Zinātniski pētnieciskais darbs “DZĪVES KVALITĀTE CILVĒKIEM AR OSTEOGENESIS IMPERFECTA’’ ir izstrādāts medicīnas nozarē, izmantojot teorijas un praktiskā darba apkopojumu. Tēmas aktualitāti nosaka tas, ka Osteogenesis imperfecta ir smaga un neārstējama kaulu slimība ar progresējošu gaitu, kas negatīvi ietekmē dzīves kvalitāti. Kaut gan jau 19.gs.vidū tika aprakstīta šī saslimšana, mūsdienās nav efektīvas ārstēšanas un šiem cilvēkiem dzīves garumā jāsaskarās ar daudziem nepatīkamiem simptomiem. Darba mērķis ir izvērtēt dzīves kvalitāti cilvēkiem ar Osteogenesis imperfecta. Bakalaura darbs sastāv no teorētiskās un praktiskās daļas. Teorētiskajā daļā apkopota literatūra par dzīves kvalitāti, Os…