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At least 1,009 records · Page 56Linked to original sources
PubMed1993

Osteogenesis imperfecta as a differential diagnosis of pathologic burst fractures of the spine. A case report.

A 22-year-old man suffered two noncontiguous burst fractures of the thoracic spine after minor motor vehicular trauma. He was diagnosed with pathologic spinal burst fracture associated with osteogenesis imperfecta Sillence Type 1A. The diagnosis was based on the relatively minor nature of the trauma, clinical characteristics, roentgenograms, and detailed family history. Osteogenesis imperfecta, although rare, should be considered in the differential diagnosis of severe burst fractures of the spine.

Accidents, Traffic↗
PubMed1996

The prognosis for walking in osteogenesis imperfecta.

We report a postal survey of 59 families of children with osteogenesis imperfecta. From the 51 replies we collected data on developmental milestones and walking ability and related them to the Sillence and the Shapiro classifications of osteogenesis imperfecta. Twenty-four of the patients had been treated by intramedullary rodding. Both classifications helped to predict eventual walking ability. We found that independent sitting by the age of ten months was a predictor for the use of walking as the main means of mobility with 76% attaining this. Of the patients who did not achieve sitting by ten months, walking became the main means of mobility in only 18%. The developmental pattern of mobility was similar in the rodded and non-rodded patients.

Adolescent↗
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↗
PubMed1996

[Severe 5-fluorouracil toxicity in a woman treated for breast cancer with concurrent osteogenesis imperfecta and dehydrogenase deficiency].

Dihydropyrimidine dehydrogenase (DPD) is the principal enzyme involved in the catabolism of 5 fluorouracil (5 FU). The clinical importance of DPD has recently been demonstrated wit the identification of rare cases presenting a severe toxicity to 5 FU related to proven DPD deficiency. We report a new case in a patient with concurrent congenital osteogenesis imperfecta. We were surprised to find another similar association reported by Lyss. It is tempting to speculate that DPD activity may be abnormally regulated in osteogenesis imperfecta patients.

Anemia, Aplastic↗
PubMed1995

Induction of osteogenesis by bovine platelet transforming growth factor-beta (TGF-beta) in adult mouse femur.

TGF-beta has been shown to be one of the most important regulators in chondrogenesis and osteogenesis. Daily subperiosteal injection of TGF-beta, which was extracted and purified from bovine platelets, into adult mouse femur resulted in proliferation and differentiation of the mesenchymal cells, chondrogenesis, and endochondral osteogenesis. After cessation of the injection, the endochondral ossification occurred widely, resulting in replacement of the cartilage with new bone. These phenomena demonstrate that exogenous TGF-beta stimulates mesenchymal proliferation and differentiation that occur in early fracture healing and suggest the possibility of clinical application of TGF-beta for fracture repair and bone transplantation.

Animals↗
PubMed1996

[Combined total endoprosthesis implantation in bilateral femoral neck fracture with osteogenesis imperfecta tarda].

Osteogenesis imperfecta tarda is a hereditary disease with an insufficiency of osteoblasts caused by a collagen disorder, insufficient formation of osteoid and an impediment of periosteal bone formation. This leads to increased fragility of the bones and, as a consequence, to the risk of fractures. We report a simultaneous, bilateral medial femoral neck fracture, caused by a cerebral cramp attack. The patient is 80 years old and suffers from osteogenesis imperfecta tarda and Parkinson's disease. We implanted a cemented total endoprosthesis on each side in just one operation. There were no complications in the intra- and postoperative course. A walking aid gradually increased the patient's mobility so that he could be discharged on the 21st postoperative day.

Aged↗
PubMed1995

Anesthesia for maxillary and mandibular osteotomies in osteogenesis imperfecta.

A 21-yr-old female suffering from osteogenesis imperfecta was anesthetized for correction of maxillary and mandibular deformities that had restricted her chewing. Preoperative assessment revealed a difficult intubation, restrictive lung disease secondary to bony deformities, and multiple repairs of fractures. Management of anesthesia for this operation--which is very rarely carried out in this disorder--is described along with a review of the problems of anesthesia associated with osteogenesis imperfecta.

Adult↗
PubMed1997

Effect of the distraction rate on the activity of the osteoblast lineage in distraction osteogenesis of rat's tibia. Immunostaining study of the proliferating cell nuclear antigen, osteocalcin, and transglutaminase C.

The purpose of this study was to investigate kinetics of the osteoblast lineage in the periosteum and endosteum according to different distraction rates in distraction osteogenesis of rat's tibia. An osteotomy was performed on 144 rats at the proximal diaphysis of the left tibia. The lengthening process was started after a latency period of 3 days, with varying distraction rates of 0.25 mm (group I), 0.5 mm (group II), 0.75 mm (group III), 1.0 mm (group IV) and proceeded until a 3.5 mm length gain was achieved. The animals that had an osteotomy alone, without lengthening, served as a control (group V). Immunohistochemical staining of proliferating cell nuclear antigen (PCNA), osteocalcin, and transglutaminase C (TGase C) were done on the four animals in each group sacrificed at post-distraction days 1, 3, 5, 7, 14, and 28 in order to observe the temporal changes among the experimental and control groups. Also, in order to compare the staining rates at a given length gain among the groups, animals in each group were additionally sacrificed 2 days post-distraction in group II; 2 and 4 days in group III; and 1.5, 2 and 2.5 days in group IV. The results of the expression rates of PCNA, osteocalcin, and TGase C in each group were analyzed quantitatively. The immunohistochemical study on callotasis of rat's tibia revealed that the osteoblast lineage in the periosteum is more activated than that in the endosteum for proliferation and differentiation by distraction, suggesting that the periosteum plays a more important role in neoosteogenesis in the distraction gap. Daily distraction rates ranging from 0.25 mm to 0.75 mm in two increments is appropriate for successful distraction osteogenesis of rat's tibia, but the rate of 0.25 mm a day is significantly better than that of 0.75 mm as was made evident in the immunohistochemical observations.

Animals↗
PubMed1997

[Successful surgical treatment of aortic regurgitation due to annuloaortic ectasia and mitral regurgitation caused by tendon rupture in a case of osteogenesis imperfecta].

A 54-year-old man presented with osteogenesis imperfecta complicated with both aortic regurgitation due to annuloaortic ectasia and mitral regurgitation secondary to tendon rupture. He had spinal and carpal deformities in his childhood, and heart murmurs were identified at the age of 25. He was admitted complaining of dyspnea on effort. His height was 142 cm and his weight was 46 kg. He had kyphosis, scoliosis and carpal deformity. Blue sclera was not observed. Chest radiography showed cardiomegaly and lung congestion. Echocardiography showed annuloaortic ectasia, mild aortic regurgitation, and serious mitral regurgitation due to postero-apical tendon rupture. Bone deformity and his statues were indicative of osteogenesis imperfecta. He received modified Bentall and mitral valve replacements.

Aortic Valve Insufficiency↗
PubMedDate not supplied

Osteogenesis imperfecta: clinical, cephalometric, and biochemical investigations of OI types I, III, and IV.

The aim of the study was to analyze craniofacial development in 54 patients with osteogenesis imperfecta (OI), who were classified into OI types I, III, and IV according to clinical criteria, and to relate the findings to the abnormalities in collagen I production. In 33 patients, analysis of radioactively labelled procollagen was performed. Cephalometric radiographs, facial photographs, and CT-scans (a single case) were analyzed and mean facial diagrams for lateral and frontal films were produced based on registration of 221 reference points. Radiographs of 102 male and 51 female Danish students served as control material. In OI type I, size of the skull and jaws was generally slightly reduced, but morphology was within normal limits. In OI type IV and especially type III more severe abnormalities were found; the cranial base was flattened, the maxilla posteriorly inclined, and nearly all size-measurements were reduced. In OI type III the sagittal jaw relations were reduced and a mandibular overjet recorded. Three OI type I patients, whose fibroblasts produced structurally abnormal collagen I, had the stature and several features in the craniofacial region, which corresponded to those recorded for the OI type IV group. Also, in three OI type IV patients whose fibroblasts produced a reduced amount of normal collagen I, craniofacial morphology showed several features resembling type I patients. We conclude that structural abnormalities of collagen I generally give rise to more severe alterations of the craniofacial features than a quantitative defect of collagen I. OI type I patients are only slightly affected in their craniofacial region, while patients with OI type IV and especially type III are moderately to severely affected. The combined cephalometric and biochemical findings suggest that future classification of patients with osteogenesis imperfecta should be based on biochemical/molecular and radiological analyses in combination with clinical criteria rather than on clinical features alone.

Adolescent↗
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↗
PubMedDate not supplied

[Electrically induced osteogenesis. II. Experimental studies].

The paper presents the possibilities to induce osteogenesis using different types of electrical current. The direct current may be used with invasive or semi-invasive methods. Electrodes are placed internally, near the bone. Experiments showed that the optimum stimulation is achieved with current between 5 and 20 microamperes. The capacitive current is able to induce osteogenesis. The electrodes are placed externally; between the electrodes there is an electric field with the value ranged 1-10 millivolts/cm. The method of pulsed electromagnetic fields is based on the field produced by a coil placed externally. The magnetic field range between 0, 1 and 20 gauss. This is the most appreciate method because is noninvasive and offered the best experimental results.

Animals↗
PubMed1998

Distraction osteogenesis for the reconstruction of the temporomandibular joint.

Distraction osteogenesis is the technique of slow bone expansion across an osteotomy site. Most commonly used for orthopedic lengthening of the extremities, it is now being applied to the craniofacial skeleton, including treatment of facial asymmetries, micrognathias and mandibular discontinuity defects. The technique can also be applied for the reconstruction of a neo-condyle. Transport distraction osteogenesis may prove to be a treatment alternative for patients requiring condylar reconstruction.

Adult↗
PubMedDate not supplied

Statistical analysis of axial deformity during distraction osteogenesis of the tibia.

In this study, we documented the prevalence of coronal axis malalignment in a series of 93 tibias (from 54 patients) lengthened with monolateral fixation. The average length obtained by distraction osteogenesis was 8.9 cm (range, 3.5-15.6) or 38% of the original bone length (range, 11-78%). Fifty (54%) of 93 tibias had documented valgus angulation of > or = 10 degrees or had fixator manipulation during the lengthening process for undesirable or progressive angulation; no cases of varus angulation were noted. Thirteen (14%) segments had later corrective osteotomy for unsatisfactory valgus malalignment. Statistical analysis revealed two factors to have a significant effect on the rate of malalignment. Those cases that had tibial osteotomy below the proximal one third of the original tibial length and those cases in which the fixator was placed > 5 degrees out of parallel had higher rates of angulation or manipulation (p < 0.001 and p = 0.002). Although the percentage of original bone lengthened was not statistically significant (p = 0.083), it did have an important effect on rates of axial malalignment. From this study we conclude that relatively high rates of malalignment in the tibia during distraction osteogenesis with monolateral external fixation are predominately the result of more distal osteotomies and nonparallel fixator placement. Attention to these details in general, and particularly where long lengthenings are planned, may significantly reduce this common complication.

Adolescent↗
PubMed1998

Aortic valve surgery in osteogenesis imperfecta: report of two cases and review of the literature.

Aortic insufficiency is a well known but uncommon valvular dysfunction in patients with osteogenesis imperfecta. In such cases, aortic valve surgery has rarely been performed, and carries a high risk of perioperative complications. We report two patients with osteogenesis imperfecta, who underwent elective successful aortic valve replacement. The surgical problems encountered in this connective tissue disorder are also reviewed.

Adolescent↗
PubMed1998

Cochlear implantation in osteogenesis imperfecta.

A case is reported in which a Nucleus 22 channel intracochlear implant was applied to a Hungarian woman (age 50 yr) with profound deafness associated with osteogenesis imperfecta. Successful intracochlear insertion of the 22 electrodes resulted in a 70 dB hearing improvement at frequencies 250-2000 HZ. Nevertheless, a characteristic facial twitching appeared upon activation of electrodes 9-13. Inactivation of these electrodes abolished the non-acoustic nerve excitation with preservation of acoustic performance. Osteogenesis imperfecta may involve a state of risk for non-acoustic nerve activation in cochlear implant patients possibly resulting from a reduced impedance to current spread by abnormal bone tissue. This, however can be overcome by simple programming manoeuvres.

Cochlear Implantation↗
PubMed1998

[Osteogenesis imperfecta diagnoses early, apropos of a case at the Yalgadou Ouédraogo National Hospital Center of Ouagadougou].

Osteogenesis imperfecta which represents a family tragedy for parents, a curiosity for physicians and radiologists, constitutes a real constitutional osteoporosis, usually rare with dominant autosomic transmission. Authors report a case of a 37 week amenorrhea living foetus, presenting an osteogenesis imperfecta. This affection, with early in utero manifestations, has a bad prognosis (baby deceased 72 hours after birth). Diagnosis was suspected at echography and conformed by x-rays investigations. The new born got also clinical and pathological examinations. Authors emphasize the unusualness and the gravity of these early clinical features. They insist on doing echography and radiography for the location of osseous and visceral lesions before and afterbirth.

Fatal Outcome↗