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At least 37 records · Page 2Linked to original sources
PubMed1979

[Treatment of osteogenesis imperfecta with (+)-catechin (author's transl)].

4 girls aged 4--12 years with various forms of osteogenesis imperfecta were treated with (+)-catechin for several months. Bone punch biopsies from the iliac crest were investigated by electron microscopy before and during treatment. The frequency of fractures decreased clinically. There were no radiographic changes in the bones and there were no side effects. Electron microsopy showed a dilated coarse endoplasmatic reticulum with infrequent ribosomes, thin collagen fibrils and decreased predominantly disseminated mineralisation before treatment. Under the influence of treatment electron microscopical aspects of the bone improved. The cisternae of the endoplasmatic reticulum were arranged parallel with densely packed ribosomes, collagen fibrils were wider and in closely packed bundles and mineralisation was clearly improved. The electron microscopic findings are evidence for a possibly beneficial influence of (+)-catechin in some cases of osteogenesis imperfecta.

Benzopyrans↗
PubMed1978

Metacarpal morphometry in adults with osteogenesis imperfecta.

Osteogenesis imperfecta is often regarded as a form of osteoporosis. In many cases, particularly those in whom the first fracture occurs outside the neonatal period, bones that have not been fractured may appear radiologically normal. In a group of 24 adults with osteogenesis imperfecta the thickness of the metacarpal cortex was normal but their bones were often slender. Osteoporosis is probably not an inevitable feature of such cases, and some of the radiological abnormalities reported may be the results of previous fractures and their treatment.

Adult↗
PubMed2023

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.

BACKGROUND: Kinesin motor proteins transport intracellular cargo, including mRNA, proteins, and organelles. Pathogenic variants in kinesin-related genes have been implicated in neurodevelopmental disorders and skeletal dysplasias. We identified de novo, heterozygous variants in KIF5B, encoding a kinesin-1 subunit, in four individuals with osteogenesis imperfecta. The variants cluster within the highly conserved kinesin motor domain and are predicted to interfere with nucleotide binding, although the mechanistic consequences on cell signaling and function are unknown. METHODS: To understand the in vivo genetic mechanism of KIF5B variants, we modeled the p.Thr87Ile variant that was found in two patients in the C. elegans ortholog, unc-116, at the corresponding position (Thr90Ile) by CRISPR/Cas9 editing and performed functional analysis. Next, we studied the cellular and molecular consequences of the recurrent p.Thr87Ile variant by microscopy, RNA and protein analysis in NIH3T3 cells, primary human fibroblasts and bone biopsy. RESULTS: C. elegans heterozygous for the unc-116 Thr90Ile variant displayed abnormal body length and motility phenotypes that were suppressed by additional copies of the wild type allele, consistent with a dominant negative mechanism. Time-lapse imaging of GFP-tagged mitochondria showed defective mitochondria transport in unc-116 Thr90Ile neurons providing strong evidence for disrupted kinesin motor function. Microscopy studies in human cells showed dilated endoplasmic reticulum, multiple intracellular vacuoles, and abnormal distribution of the Golgi complex, supporting an intracellular trafficking defect. RNA sequencing, proteomic analysis, and bone immunohistochemistry demonstrated down regulation of the mTOR signaling pathway that was partially rescued with leucine supplementation in patient cells. CONCLUSION: We report dominant negative variants in the KIF5B kinesin motor domain in individuals with osteogenesis imperfecta. This study expands the spectrum of kinesin-related disorders and identifies dysregulated signaling targets for KIF5B in skeletal development.

Animals↗
PubMed1976

[Crystallization of fibrils, chondroid and osseous mineralization in desmal osteogenesis and intervertebral disk].

We reported on similar findings concerning the intercellular substances in the early desmal osteogenesis in cattle fetuses and rats and in the intervertebral disc of cats. In 0oth regions fibrils change their structure. In early desmal osteogenesis the bone fibrils are synthetized by osteoblasts, derived from mesenchymal cells. Later the fibrillar structure is lost and substituted by a homogenous substance. Chondroid starlike mineral deposits which are composed of needles appear in the vicinity of the cells. The chondral needles are longer and smaller than those in the bone. Finally the chondral needles are removed by mineraloclasts. During the next step frbrils reappear. They are accompanied by needles in their longitudinal axis. In adult cat the fibrils of intervertebral disc cross directly in bone. The fibrils of fibrocartilage are partly swollen and escorted by starlike mineral deposits. Between the bone fibrils partly amorphous mineral deposits are found generally needle-like along the fibrils. The nucleation of minerals takes place at random. The crystal growth is correlated to the structure and composition of organic intercellular substances and their morphological shape differs correspondingly, being chondroid in the fashion of stars, amorphsus and osseous when in contact and parallel to the fibrils.

Animals↗
PubMed1975

[Otosclerosis like bone in osteogenesis imperfecta tarda].

Bone like in otosclerosis from a 34-years-old man, from 33 years and 22 years old women, suffering from osteogenesis imperfecta tarda, with hardness of hearing in both ears were removed with chisel from the lower border of the oval window. After that a stapedectomy was accomplished. The stapedial crura have been genetically interrupted or broken, the footplate attached to the oval window. The bone from the border of the oval window was prepared for the histological examination. The specimens were coloured with Hematoxylin-Eosin and corresponding to Gomöri. In the bone similar cartilage osteoclasia and osteogenesis are rare. There are in the chondroosseous bone rooms filled with connective tissue. The diseased osseous labyrinth in osteo genesis imperfecta tarda must be regarded as a special morphogenetic formation of osteopsathyrosis.

Adult↗
PubMed1975

Management of pregnancy in osteogenesis imperfecta: new perspectives.

Osteogenesis imperfecta during pregnancy presents increased risk to mother and fetus. In addition to the well-known skeletal changes, other recently recognized metabolic abnormalities also may lead to maternal and fetal problems during labor and delivery. A discussion of risk factors and their managment is presented. The importance of considering the possibility of fetal osteogenesis imperfecta is stressed, and cesarean section is presented as the method of choice for delivery. Important genetic factors including the lack of correlation between the severity of involvement of parent and offspring and the use of pyrophosphate analyses are discussed. An illustrative case is presented.

Adult↗
PubMed1979

[A contribution to the recording and study of the disease pattern of osteogenesis imperfecta tarda (author's transl)].

This study aims at investigating in a group of thirty-five patients whether osteogenesis imperfecta tarda presents a uniform disease pattern in respect of clinical and roentgenological criteria, or whether it can be subdivided into clinical groups. Depending on the severity of the disease, it was possible to subdivide this into two groups: a severe form of osteogenesis imperfecta tarda, and a bland form. This subdivision was effected according to the most conspicuous symptom of frequency of the fracture. The other symptoms do not allow any subdivision into groups since their occurrence is independent of the severity of the disease pattern.

Activities of Daily Living↗
PubMedDate not supplied

An in vitro study of electrical osteogenesis using direct and pulsating currents.

Although many investigators have electrically stimulated osteogenesis in vivo, this phenomenon has not been reported in vitro. In this work direct and pulsating currents were applied to in vitro fetal rat tibiae. The results indicated that electric current did cause osteogenesis in vitro, precipitates of calcium compounds formed in the cathode region, and direct current was more effective in stimulating bone growth than pulsed current delivering the same total charge (coulombs).

Animals↗
PubMed1977

Scanning electron microscopy findings in osteogenesis imperfecta fetalis.

A case of osteogenesis imperfecta fetalis in a stillborn black male infant is described. Scanning electron microscopic studies of the skeleton showed normal intercartilaginous septa in the metaphyses of long bones, covered by uniform, calcifying globules 1 mum in diameter. In the diaphyses, however, the orientation of bone trabeculae was abnormal. The trabeculae were thin, with wide and densely packed osteocytic lacunae, and with more resorbing surfaces than in the control specimens. It is concluded that in osteogenesis imperfecta there is abnormal periosteal ossification, together with increased osteocytic resorption.

Bone and Bones↗
PubMed1978

Osteogenesis imperfecta in one of twins. Case report.

The is a report of a 5-year-old girl with osteogenesis imperfecta, an uncommon abnormality considered to encompass several distinct disorders and biochemically classified as a connective tissue disease. Affected individuals, in the more severe form of the disease, often die in utero or shortly thereafter secondary to birth trauma. The patient was one of dizygotic twins discordant for osteogenesis imperfecta tarda inherited as an autosomal dominant trait.

Adolescent↗
PubMed1978

Osteogenesis imperfecta as a complication of pregnancy.

Osteogenesis imperfecta is a complex disorder that rarely complicates pregancy. The successful obstetric management of a patient with severe osteogensis imperfecta is presented along with a detailed review of maternal osteogenesis imperfecta in the recent English literature. A review of the disease process, its complications, and associated disorders is presented.

Adult↗
PubMed1978

The onset of osteogenesis in the developing chick limb.

The pattern of the onset of osteogenesis in each of the skeletal elements of the developing limbs of the chick embryo is described using Alizarin-red-stained whole mounts. Grafting experiments where 6-day unossified cartilage rudiments are placed into 4-day host wings show the initiation of ossification to be a programmed event. Truncation experiments show this to be the case not only for the initial onset of osteogenesis, but also for each region of each element. These results are discussed in terms of morphogenetic events occurring in the early wing bud.

Animals↗
PubMed1977

Osteogenesis imperfecta congenita: evidence for a generalized molecular disorder of collagen.

Collagen from bone (femur and calvarium), rib cartilage, skin, tendon, sclera, and cornea has been isolated and purified from a deceased 4-day-old infant with osteogenesis imperfecta congenita. Amino acid analysis indicated that the content of hydroxylysine was doubled in bone collagen and increased by 55% in that of cartilage as compared with age-matched normal tissues. The levels of covalently bound glucose and galactose were proportionately increased in both collagens. Collagen purified from other tissues revealed smaller increases in lysyl hydroxylation. These data suggest that at least one form of osteogenesis imperfecta congenita is associated with a molecular alteration of collagen involving hydroxy-lysine and that this alteration is particualrly marked in collagens obtained from calcifying tissues.

Amino Acids↗
PubMed1976

Congenital osteogenesis imperfecta in Charollais cattle.

An outbreak of an apparently new hereditary bone disease--congenital osteogenesis imperfecta--in six newborn half-sib Charollais calves is described. In many respects the clinical, pathological, radiological and genetical findings resemble the congenital osteogenesis imperfecta seen in man and sheep.

Animals↗
PubMed2025

Hospitalization for child physical abuse before hospitalization for osteogenesis imperfecta or severe hemophilia: A nationwide cohort study in France.

BACKGROUND: Timely and accurate diagnosis of early child physical abuse (CPA) is crucial to avoid recurrence and protect victims. Ruling out differential diagnoses is also important to avoid misdiagnosis of CPA. We evaluated the risk of hospitalization for early CPA before hospitalization for its 2 main differential diagnoses: osteogenesis imperfecta (OI) and severe hemophilia (SH). METHODS: This population-based cohort study used the national administrative database covering all hospitals in France. We followed infants born from 2010 to 2019 until age 2. We identified infants with a first discharge code for early CPA, OI, and SH and calculated crude absolute and relative risks. RESULTS: Among the 6,315,216 infants included, 2088 (33/100,000 infants per year) were hospitalized for early CPA, 160 (3/100,000) for OI, and 402 (6/100,000) for SH before age 2. Among infants hospitalized for early CPA, 2085 (99.86 %) had no further hospitalization for OI or SH, 3 (0.14 %) were further hospitalized for OI with a 9-month median interval between hospitalizations, and 0 were further hospitalized for SH. The absolute risk of hospitalization for early CPA before hospitalization for OI was 1.9 % (3/160, 95 % confidence interval [CI] 0.39-5.38), and the relative risk as compared with infants without hospitalization for OI was 56.8 (95 % CI 18.5-174.3). CONCLUSIONS: The very low to null absolute risks of hospitalization for early CPA before OI or SH probably reflect excellent current clinical practices in ruling out differential diagnoses. A better implementation of existing guidelines could further shorten the time to diagnosis of OI before age 2.

Humans↗