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At least 163 records · Page 9Linked to original sources
PubMed2007

Quantitative bone mineral density assessment in malignant infantile osteopetrosis.

PURPOSE: To investigate the use of quantitative computed tomography (QCT) and dual energy absorptiometry (DXA) for assessing bone mineral density (BMD) in the evaluation of children with malignant infantile osteopetrosis (MIOP). METHODS AND PATIENTS: We retrospectively reviewed QCT- and DXA-determined BMD in six patients with infantile osteopetrosis and correlated BMD measured during the initial evaluation with patient characteristics. RESULTS: Five male and one female infant met the eligibility criteria. BMD was markedly elevated in all patients as determined by each modality, QCT or DXA. For QCT, in which age-specific normal values are known, the BMD was found to be 22.4-32.6 standard deviations above the mean. Using DXA, the estimated BMD of the lumbar spine ranged from 0.45 to 0.8 g/cm(2); children with similarly appearing bone radiographs had quite disparate BMD. While the qualitative trend of BMD among the patients was similar for both measures, the units and numerical values of BMD differed. We found no correlation between BMD results and hematopoiesis observed in the bone marrow or with visual evaluation of the radiographs. CONCLUSION: Both QCT and DXA are effective quantitative measures of BMD in children with MIOP. However, the same modality should be employed for longitudinal evaluation of a given patient. Each technique has unique advantages and disadvantages and may complement one another in the evaluation of MIOP or other bone disorders. Quantitative assessment of BMD in children with MIOP will likely serve to further characterize this disease.

Absorptiometry, Photon↗
PubMed1993

Pathogenic potential of myeloblastosis-associated virus: implication of env proteins for osteopetrosis induction.

To identify the nucleotide sequences responsible for the tumorigenic specificity of myeloblastosis-associated virus (MAV) we have established the complete nucleotide sequences of three infectious clones inducing either both osteopetrosis and nephroblastoma [MAV2(O)/2 and MAV2(O)p9] or only nephroblastoma [MAV1(N)], and compared their biological properties in the same chicken host strain. The MAV2(O)p9 originally described as a type 2 strain was found to carry a hybrid env gene containing sequences of both the types 1 and 2, and it induced milder and less rapid osteopetrosis than the original MAV2(O) clone when injected into Brown Leghorn chickens. These results, together with sequence comparisons between the MAV strains examined, suggest that subtle changes in the primary structure of the TM env protein's extracellular domain are likely to affect the tumorigenic potential of MAV.

Amino Acid Sequence↗
PubMed1994

Establishment of interference in osteoblasts by an osteopetrosis-inducing avian leukosis virus.

Avian leukosis virus (ALV)-induced osteopetrosis is characterized by the presence of unintegrated viral DNA is diseased bone. To learn more about this phenomenon, ALVs with high (Br21) and low (RAV-1) osteopetrotic potential have been compared for the ability to establish superinfection resistance in cultures of calvarial-derived osteoblasts. Both viruses could establish interference in osteoblast cultures that were maintained as growing cells. This interference was maintained when cultures were induced to differentiate. These results suggest that the unintegrated viral DNA in osteopetrotic bone is not due to the inability of osteopetrosis-inducing viruses to establish superinfection resistance in osteoblasts.

Animals↗
PubMed1996

Molecular and pathogenic characterization of the RFB osteoma virus: lack of oncogene and induction of osteoma, osteopetrosis, and lymphoma.

RFB virus is an ecotropic C-type retrovirus isolated from CF-1 mice, in which it is associated with induction of osteomas. Sequence analysis of the RFB provirus revealed no evidence for presence of an oncogene or a recombined env gene. RFB virus is a member of the murine leukemia virus (MuLV) group (RFB MuLV), sharing 97% nucleotide identity with the endogenous ecotropic provirus of AKR mice (Akv). Like Akv, expression of RFB MuLV mRNAs is inducible by dexamethasone treatment, indicating that FRB MuLV also shares transcriptional control signals with Akv. We assessed the pathogenic potential of RFB MuLV in NMRI mice, which, in contrast to CF-1 mice, do not contain endogenous ecotropic retroviruses. RFB MuLV induced osteomas, osteopetrosis, and lymphomas in newborn NMRI mice. Another CF-1 mouse-derived leukemia virus, FBJ MuLV, the helper virus of the FBJ osteosarcoma virus stock, as well as Akv, also induced osteomas, osteopetrosis, and lymphomas in NMRI mice similar to RFB MuLV. These findings indicate that endogenous retroviruses carry a pathogenic potential in hematopoietic tissues and in the skeleton.

Animals↗
PubMed1994

Valgus tibial osteotomy in a patient with benign dominant osteopetrosis (Albers-Schoenberg disease). A case report.

Operation in osteopetrosis, or Albers-Schoenberg disease, needs careful technique because of the brittleness of the bone. We report a patient with autosomal-dominant osteopetrosis (MIM 166600)18 and unicompartmental osteoarthritis of the knee which was treated by a valgus tibial osteotomy. Our experience, and a review of the literature, shows that external fixation is a valuable form of treatment because it is noninvasive and ensures perfect interfragmentary compression.

Aged↗
PubMed1991

Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification).

A 4-month-old infant with bronchiolitis was found to have hyperdense bones on chest roentgenograms. The diagnosis of osteopetrosis was demonstrated by generalized increased radiological bone density and by a bone biopsy showing persistence of calcified cartilage. The infant also had a mixed proximal and distal renal tubular acidosis requiring as much as 12 mEq/kg per day of sodium bicarbonate. Measurement of his erythrocyte carbonic anhydrase activity revealed a deficiency of CA II. His parents showed values of CA activity that were intermediate between controls and the proband. Thus, this is a patient with the CA II deficiency syndrome; he is the youngest reported case without any family history of osteopetrosis to be diagnosed initially on the basis of his radiographic features.

Acidosis, Renal Tubular↗
PubMed1993

Benign osteopetrosis: a review of 42 cases showing two different patterns.

Radiographs of 42 patients with benign osteopetrosis were reviewed. Clinical notes were available for approximately half of these. According to the classification of Bollerslev and Andersen in 1987, 29 patients had type II disease of whom 18 sustained fractures. Thirteen patients had type I disease; only one of these patients sustained fractures. Transverse banding of the metaphyses was a common feature in type II disease; it was not seen in any of the type I cases. This review confirms that type II patients are at high risk of fracture, while type I patients are not. The presence of sclerotic metaphyseal bands distinguishes between the two types, its presence being enough to confirm type II. However, its absence is not an indication of type I disease, since it is not seen in all cases of type II. Banding does not correlate with liability to fracture. Typing patients with the benign form of osteopetrosis is important in order to anticipate the fracture pattern.

Bone and Bones↗
PubMed1982

Intermediate form of osteopetrosis with recessive inheritance.

The clinical and radiographic features of the intermediate form of osteopetrosis in two sibs are presented in which the disorder appears to have been inherited as a recessive trait. Although this form of osteopetrosis has been poorly delineated, its recognition is practically important in order to give an accurate prognosis. This paper also presents an unusual complication of bilateral avascular necrosis of the femoral head in the younger sib. Radiographic changes of the femoral heads suggest those of Legg-Calvé-Perthes disease, though the possibility of avascular necrosis following unrecognized femoral neck fracture is not completely excluded.

Adolescent↗
PubMed1986

MAV-2-O replicates at a reduced rate in cells from the osteopetrosis resistant G-B1 chicken.

The replication of the avian osteopetrosis virus MAV-2-O was compared in chick embryo fibroblasts from two strains of chicken. These were G-B1 which is relatively resistant to MAV-2-O and CB which is susceptible. The production of MAV-2-O was delayed in G-B1 cells (compared with CB cells). The same result was observed after infection with Rous sarcoma viruses of subgroups B, C, and D. In addition, the transforming viruses induced foci on G-B1 fibroblasts 24 to 48 hours later than on CB fibroblasts. In G-B1 cells there was also a delayed kinetics of intracellular viral RNA production. Integrated and linear unintegrated MAV-2-O DNA species were also present in lower amounts in G-B1 than in CB fibroblasts at 3 days postinfection. In vivo studies confirmed the in vitro situation. There was a marked difference in the amount of virus present in the osteoid bone matrix and the osteocytic lacunae of osteopetrotic bones from susceptible and G-B1 chickens. In contrast to the bone lesions from susceptible animals, budding virus particles were not detectable in lesions from G-B1 chickens. There was no difference in the amount of virus in osteopetrotic and non-osteopetrotic bone of susceptible chickens suggesting that virus replication alone is not sufficient for induction of osteopetrosis and that an additional specific virus-cell interaction is required. The relative resistance of strain G-B1 may therefore, be a consequence of a reduced frequency of this interaction. Its basis may be the lower amount of integrated, as well as unintegrated, viral DNA.

Animals↗
PubMed1992

Osteopetrosis: brain ultrasound and computed tomography findings.

A case of osteopetrosis presenting with rare features of dysmorphism with proptosis due to hypoplasia of the orbits and the temporal bone is described. The case also had calcifications in the periventricular regions, the falx cerebri and the corpora colliculi. These features and sonographic findings of osteopetrosis have not been reported previously. The sensitivity and specificity of imaging modalities in the diagnosis of intracranial calcifications is discussed.

Brain↗
PubMed1993

Failure of calcitriol treatment in a patient with malignant osteopetrosis.

In an attempt to stimulate bone resorption, a 10-week-old infant with malignant infantile osteopetrosis was treated with high doses of calcitriol, a potent bone resorption stimulatory agent, combined with a low calcium diet to prevent hypercalcaemia. Although calcitriol administration was initiated at this very young age, our patient did not show any clinical, radiological, or histological improvement. Despite reports of positive results of this treatment in the literature, our patient did not reveal any signs of bone resorption. She eventually died from the complications of osteopetrosis at the age of 6 months after 88 days of therapy.

Bone and Bones↗
PubMed1995

Centrifugal osteopetrosis: appendicular sclerosis with relative sparing of the vertebrae.

A previously unreported pattern of bone involvement in autosomal dominant osteopetrosis is described in three affected members of a Vietnamese kindred. The hands, feet, distal bones, and skull were markedly osteosclerotic on radiologic examination. The vertebrae displayed very minimal thickening of the endplates in two of the cases, and no visible involvement in the third. The vertebral bone density (assessed by dual-energy X-ray absorptiometry) was markedly elevated, suggesting that the spine was not completely spared. This pattern contrasts with the predominantly axial distribution of the recognized variants of osteopetrosis.

Adolescent↗
PubMed1976

Osteopetrosis of microphthalmic mice -- a defect of the hematopoietic stem cell.?

The recessive genes mi and gl in the homozygous state determine, among other phenotypic effects, osteopetrosis in the house mouse. From a stock carrying mi derived from Grüneberg (1963) the mi gene was bred into the standard CBA/H inbred strain. Microphthalmic mice of these two stocks and their hybrids were treated as newborn by intraperitoneal injection and at weaning or maturity by intravenous injection of cell suspensions containing hematopoietic stem cells from phenotypically normal mice. Resolution of much of the osteopetrosis but not the other phenotypic effects occurred within a few months in the majority of cases, provided syngeneic or H-2 compatible allogeneic cells were given: it did not occur spontaneously or on giving H-2 incompatible cells or on giving compatible material by an inappropriate route. The results accord with hypotheses that (1) osteoclasis of scaffoldtype woven bone is impaired in mi mi, (2) that osteoclastic cells are derived through circulating monocytes from hematopoietic stem cells, and (3) in mi mi this defect can be overcome by a transplant of normal hemopoietic stem cells.

Age Factors↗
PubMed1988

Variable osteoclast appearance in human infantile osteopetrosis.

A light and transmission electron microscopic (TEM) study of iliac crest metaphyseal bone from nine patients with infantile osteopetrosis demonstrates a variable spectrum of osteoclast abnormalities. All bone was obtained at biopsy before treatment. The average age at biopsy was 6 months with a range from 1 to 12 months. Osteoclast number was always increased and the cells were always appropriately positioned in relation to bone and cartilage. Osteoclast number, size, and nucleation varied from midly to markedly increased. In those with only a mild-to-moderate osteoclast increase, the marrow had an otherwise near-normal appearance with a good complement of hematopoietic cells. In those with markedly increased osteoclasts (hyperosteoclastic state) there were only scanty collections of hematopoietic cells. Light microscopic histomorphometry documented the percentage of bone and cartilage surfaces covered by osteoclasts. Controls from areas of greatest osteoclast presence documented a 5% coverage. One osteopetrotic patient registered a 4.8% value with all others elevated from 7.6 to 27.9%. Quantitative electron microscopy showed the ruffled border-clear zone complex to be absent or markedly diminished in seven of the nine patients. In two, however, osteoclast profiles had abundant ruffled border-clear zone complexes. Patients with the hyperosteoclastic bone marrow were more severely affected clinically. Light and TEM studies of marrow biopsies in initial assessment of osteopetrosis establish a baseline profile, may provide prognostic information, and allow for more meaningful treatment follow-up.

Child, Preschool↗
PubMedDate not supplied

Osteopetrosis--improvement of hematologic findings with age.

A three months old girl was admitted to the hospital for evaluation of pallor and abdominal distension. There was anemia, thrombocytopenia and extramedullary hematopoiesis. In the long bone roentgenogram medullary areas could not be distinguished and bone densities were increased. The patient was diagnosed for osteopetrosis with these findings and prednisolone treatment was begun and then discontinued since it was not effective. In the follow up, the need for blood transfusions decreased and then disappeared. We present a case which was diagnosed as osteopetrosis and followed up by blood transfusions and of which hematologic findings improved with age.

Age Factors↗
PubMed2001

[A benign form of osteopetrosis. Case report].

Osteopetrosis is a disease in which a disturbance in the resorption of bone formed by endochondral ossification takes place. The cause of the osteoclast insufficiency is unknown. In the literature, the etiology of the disease is discussed in relation to the complete absence of cathepsin K synthesis, a cysteine protease. In our case report, we demonstrated cathepsin K expression in the osteoclast cells of the benign form of osteopetrosis. We also found the macrophage marker CD 68 in these osteoclast cells, whereas other mononuclear phagocytic cells were not present in the vicinity of osteoclasts. The inhibition of osteoclast cells by phagocytes is unlikely.

Antigens, CD↗
PubMed2003

Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.

A 16-year-old male patient with type II autosomal dominant benign osteopetrosis (ADO) was genotyped and found to harbor a novel mutation in exon 25 of the gene encoding for the osteoclast-specific chloride channel, CLCN7, inherited from the father, who was asymptomatic. The patient had normal biochemical findings and acid-base balance, except for increased serum levels of creatine kinase, lactic dehydrogenase, and the bone formation markers bone alkaline phosphatase isoenzyme, osteocalcin and N-terminal type I collagen telopeptide/creatinine ratio. Unusual generalized osteosclerosis was observed together with a canonical increase in vertebral and pelvis bone mass. An affected first grade cousin presented with normal biochemical findings and a milder osteosclerotic pattern of the pelvis. At the cellular level, cultured osteoclasts from the patient showed increased motility, with lamellipodia, membrane ruffling and motile pattern of podosome distribution, all of which could have contributed to functional impairment of bone resorption. The present report documents a novel mutation of the CLCN7 gene causing osteopetrosis in a radiologically uncertain form of the diseases, with apparent incomplete penetrance.

Adolescent↗