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At least 865 records · Page 48Linked to original sources
PubMed2001

alpha1(I) collagen gene expression in quail epiphyseal chondrocytes.

We examined alpha1(I) collagen expression by using primary cultures of quail epiphyseal chondrocytes which exhibit high levels of synthesis of cartilage-specific collagens and do not undergo phenotypic modulation when replated onto collagens I and II or fibronectin. These cells also synthesize proalpha1(I) collagen chain, however, alpha1(I) mRNA fails to be detected by Northern blot and RNase protection analysis. Nuclear transcription rate with a 5-end specific probe is detected in suspension quail chondrocytes and RT-PCR analysis shows the presence of low levels of alpha1(I) mRNA in these cells. The lack of correspondence between procollagen mRNA levels and the rate of collagen synthesis is consistent with previous reports describing the regulation of this transcript in chondrocytes and in collagen I-producing cells.

Animals↗
PubMed1999

Parathyroid receptor gene expression by epiphyseal growth plates in rickets and tibial dyschondroplasia.

PTH/PTHrP receptor gene expression was evaluated in situ in avian epiphyseal growth plates taken from normal, rachitic and tibial dyschondroplasia (TD) afflicted chicks induced by thiram or by genetic selection. In the normal growth plates, PTH/PTHrP receptor gene expression was localized to the maturation zone as demonstrated by the expression of collagen type II (col II), osteopontin (OPN) genes and alkaline phosphatase activity (AP). In TD, either induced by thiram or by genetic selection, normal levels of PTH/PTHrP receptor gene expression were observed up to 21 days post-hatch. In rickets, on the other hand, no PTH/PTHrP receptor gene expression was observed in the growth plate from day 8 of a vitamin D-deficient diet. In cultured chondrocytes, PTH caused time-dependent down-regulation of its own receptor. These results suggest that alterations in the PTH/PTHrP receptor gene expression are associated with rickets but not with TD. The reduction in the PTH/PTHrP receptor gene expression in rickets may be due to the high plasma levels of PTH.

Animals↗
PubMed1997

Immunolocalization of basic fibroblast growth factor in porcine epiphyseal growth plate.

Recent evidence clearly indicates that basic fibroblast growth factor (bFGF) signal transduction is essential for normal skeletal development. Here, we report that bFGF and its receptor are specifically localized in the terminal hypertrophic chondrocytes of the porcine epiphyseal growth plate, the tissue responsible for longitudinal bone growth. Similar observations were obtained with the chondrocytes immediately adjacent to resorbing blood vessels in the secondary center of ossification of the epiphysis. These results are consistent with a recent proposal that bFGF functions in coupling osteogenesis with chondrogenesis by attracting the vascular invasion of cartilage from adjacent trabecular bone.

Animals↗
PubMed1999

Anterior cruciate ligament reconstruction in the young patient without violation of the epiphyseal plate.

A technique of arthroscopic anterior cruciate ligament reconstruction that does not disturb the epiphyseal plate in the young patient with open physis is presented. A cryopreserved bone-Achilles tendon allograft was incorporated by an interference screw fixation to the bone plug in the tibia and an over-the-top positioning of the tendon on the femoral side. For this procedure, the minimal patient age that the thickness of the epiphysis can accept an interference screw greater than 15 mm in length is 8 years. An intra-articular reconstruction of anterior cruciate ligament with the cryopreserved Achilles allograft using our technique is safe and recommendable for young patients with open physis.

Adolescent↗
PubMed1990

Immunohistochemical localization of proteoglycans and non-collagenous matrix proteins in normal and osteochondrotic porcine articular-epiphyseal cartilage complex.

Osteochondrosis is an impaired focal endochondral ossification which appears as a cartilage retention in the subchondral bone of growing pigs. The normal differentiation of chondrocytes does not occur and the matrix calcification is restricted. The present investigation has compared the content of selected macromolecules in the cartilage matrix of the normal articular and epiphyseal growth cartilage with the osteochondrotic cartilage, using a peroxidase-antiperoxidase (PAP) immunocytochemical method at light microscopical level. Some of the non-collagenous macromolecules (fibromodulin, large aggregating proteoglycans, fibronectin, 100-kDa subunit protein and 148-kDa protein) were conspicuously prominent within the osteochondrotic cartilage, compared to the matrix of the "normal" resting, proliferative and hypertrophic regions. This indicates that the chondrocytes in the osteochondrotic cartilage do not modify their surrounding matrix adequately, thus precluding normal calcification.

Animals↗
PubMed2002

Expression of estrogen receptor alpha and beta in the epiphyseal plate of the rat.

In this study we examine the spatial and temporal expression of estrogen receptor (ER) alpha and beta mRNA and protein in the tibial growth plate of the rat after birth, as well as the hormonal regulation of their expression. Using in situ hybridization and immunohistochemistry, we demonstrated ER alpha and ER beta mRNA and protein in tibial growth plates from 1 to 40 weeks after birth. ER alpha and beta mRNA and protein were localized in late proliferating and early hypertrophic chondrocytes during early life (1 and 4 weeks of age), whereas the immunohistochemistry also showed staining for ER alpha and beta in the resting cells. A similar expression pattern was observed during sexual maturation (7 weeks of age) except that ER beta mRNA was also detected in early proliferating chondrocytes. After sexual maturation (from 12 up to 40 weeks of age) ER alpha and beta mRNA and protein expression was confined to late proliferating and early hypertrophic chondrocytes. Apart from a relatively higher ER alpha mRNA expression in males after sexual maturation, we did not detect differences in expression of ERs between genders. Expression of ER beta mRNA in epiphyseal plates was increased in growth-retarded hypophysectomized rats compared with controls. Administration of growth hormone (GH) did not reverse the increased ER expression to normal. These data suggest that ER alpha and beta are coexpressed in growth plates of the rat after birth and that the level of expression of ERs in these tissues is hormonally regulated. Furthermore, our data indicate that the absence of growth-plate closure in the rat cannot be explained by disappearance of ER alpha expression during sexual maturation per se.

Animals↗
PubMed1997

Mechanical properties of rat epiphyseal cancellous bones studied by indentation testing.

Twenty-six pairs of rat femoral heads, distal femurs, proximal tibiae, and humeral heads were tested using an indentation test with a flat-ended cylindrical indentor. A useful mechanical data set including ultimate load, stiffness, and ultimate strength has been generated. Differences were found between the cancellous bones at different locations. Good correlations have been obtained between indentation depth (at 50 N load) and ultimate strength (R=-0.937, p<0.05), which means that with an increase of ultimate strength the indentation depth or deformation decreased proportionally. Based on the experimental results and the comparison with other methods in the literature, the simplicity and usefulness of this indentation test to evaluate compressive mechanical properties of rat epiphyseal cancellous bone are apparent.

Journal Article↗
PubMed2004

Effect of peptide preparation epithalamin on circadian rhythm of epiphyseal melatonin-producing function in elderly people.

Circadian rhythm of plasma melatonin concentrations in healthy elderly subjects was studied before and after a course treatment with Epithalamin (peptide preparation from the pineal gland). Epithalamin modulated the melatonin-producing function of the pineal gland. During the dark period plasma melatonin concentration increased in subjects with initially lowered activity of the pineal gland, while in subjects with normal epiphyseal function plasma melatonin concentration tended to decrease.

Aged↗
PubMed1986

The matrix components of the epiphyseal growth plate and articular cartilages from dogs treated with ammonium tetrathiomolybdate, a copper antagonist.

As part of a project to study the effect of copper deficiency (CD) on bone development in young dogs, the composition and metabolism of proteoglycans (PGs) and extractability of collagens in the epiphyseal growth plate cartilage (EGPC) and articular cartilages (AC) were investigated. Copper deficiency was induced by feeding ammonium tetrathiomolybdate (TTM) a copper antagonist. The collagen of cartilages from TTM-treated animals was significantly more soluble in 0.5 saline than control tissues. While no distinction between TTM-treated and control cartilages was evident in terms of PG content or extractability under associative (0.5 M-GuHCl) or dissociative (4.0 M-GuHCl) conditions, the sedimentation behaviour of the PG aggregates following CsCl density gradient ultracentrifugation suggested less polydispersity of PGs in preparations from the TTM-treated animals. Moreover, analysis of the PG monomers from EGPC of TTM animals showed galactosamine/glucosamine ratios higher than control preparations, suggesting a reduced keratan sulphate content in these preparations. Organ culture of EGPC showed a significant reduction in the incorporation of 35S into PGs and of 3H-thymidine into DNA in the tissues of TTM-treated animals relative to controls. From these findings we deduce that the catabolism of PGs and the extent of collagen cross-linking in EGPC of TTM-treated animals may be reduced relative to age-matched control tissues.

Animals↗
PubMed1995

Insulin-like growth factor-I gene expression in the tibial epiphyseal growth plate of growth hormone-treated uremic rats.

To identify the molecular mechanisms involved in long bone growth of uremic animals, we evaluated the effects of recombinant human growth hormone (rhGH) supplementation on whole body growth, growth plate morphometrics, and insulin-like growth factor-I (IGF-I) gene expression in the tibial epiphyseal growth plates of uremic rats. Uremia was induced by a two-stage subtotal nephrectomy (Nx) of 30-day-old rats, followed by rhGH (N = 6) or saline (N = 6) treatment from day 56 to day 70 of age. Controls (N = 4) were sham decapsulated. Treatment with rhGH on Nx animals caused: (1) a significant increase in weight, (2) longitudinal growth similar to controls, and (3) increased total growth plate width predominantly due to an increase in hypertrophic zone width. rhGH increased IGF-I mRNA abundance in both zones, but the increase was greater in the proliferative zone. These changes were accompanied by concomitant alterations in IGF-I immunoreactivity. In uremic animals, therefore, rhGH treatment induces local IGF-I gene expression in the growth plate and increases the hypertrophic zone width but not the proliferative zone width. The latter suggests resistance to IGF-I action in that zone.

Animals↗
PubMed1995

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by short stature and early-onset osteoarthrosis. The disease genes in families with PSACH and MED have been localized to an 800 kilobase interval on the short arm of chromosome 19. Recently the gene for cartilage oligomeric matrix protein (COMP) was localized to chromosome 19p13.1. In three patients with these diseases, we identified COMP mutations in a region of the gene that encodes a Ca++ binding motif. Our data demonstrate that PSACH and some forms of MED are allelic and suggest an essential role for Ca++ binding in COMP structure and function.

Achondroplasia↗
PubMed2001

Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.

Multiple epiphyseal dysplasia (MED) is a mild chondrodysplasia affecting the structural integrity of cartilage and causing early-onset osteoarthrosis in adulthood. The condition is genetically heterogeneous. Mutations in the COMP gene and in two genes (COL9A2; COL9A3), coding respectively for the alpha2(IX) and alpha3(IX) chains of type IX collagen, can cause the autosomal dominant forms of MED. Mutations in the DTDST gene have recently been identified in a recessive form of MED. However, for the majority of MED cases, the genetic defect still remains undetermined. We report a three-generation family with an autosomal dominant form of MED, characterised by normal stature, joint pain in childhood and early-onset osteoarthrosis, affecting mainly the hips and knees. Based on discordant inheritance among affected individuals linkage of the phenotype to the COMP, COL9A1, COL9A2, COL9A3 genes was excluded. Our study provides evidence that at least another locus, distinct from COL9A1, is involved in autosomal dominant MED.

Adolescent↗
PubMed2005

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

The skeletal dysplasias are a clinically and genetically heterogeneous group of conditions affecting the development of the osseous skeleton and fall into the category of rare genetic diseases in which the diagnosis can be difficult for the nonexpert. Two such diseases are pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), which result in varying degrees of short stature, joint pain and stiffness and often resulting in early onset osteoarthritis. PSACH and some forms of MED result from mutations in the cartilage oligomeric matrix protein (COMP) gene and to aid the clinical diagnosis and counselling of patients with a suspected diagnosis of PSACH or MED, we developed an efficient and accurate molecular diagnostic service for the COMP gene. In a 36-month period, 100 families were screened for a mutation in COMP and we identified disease-causing mutations in 78% of PSACH families and 36% of MED families. Furthermore, in several of these families, the identification of a disease-causing mutation provided information that was immediately used to direct reproductive decision-making.

Adolescent↗
PubMed2006

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

Skeletal dysplasias are difficult to diagnose for the nonexpert. In a previous study of patients with multiple epiphyseal dysplasia (MED), we identified cartilage oligomeric matrix protein (COMP) mutations in only 36% of cases and suspected that the low-mutation detection rate was partially due to misdiagnosis. We therefore instituted a clinical-radiographic review system, whereby all cases were evaluated by a panel of skeletal dysplasia experts (European Skeletal Dysplasia Network). Only those patients in whom the diagnosis of MED was confirmed by the panel were screened for mutations. Under this regimen the mutation detection rate increased to 81%. When clinical-radiological diagnostic criteria were relaxed the mutation rate dropped to 67%. We conclude that expert clinical-radiological review can significantly enhance mutation detection rates and should be part of any diagnostic mutation screening protocol for skeletal dysplasias.

Adult↗
PubMedDate not supplied

Uncombable hair syndrome with angel-shaped phalango-epiphyseal dysplasia.

Uncombable hair syndrome or "cheveux incoiffables" is due to a characteristic longitudinal grooving of the hair shaft resulting in a triangular cross section (pili trianguli et canaliculi). In the majority of cases the abnormality is an isolated finding, although uncombable hair-type changes have been observed in conjunction with other features of ectodermal dysplasia. Ultrastructural studies in the latter have revealed more complex changes of the hair shaft, such as longitudinal grooving in combination with torsion, suggesting classification as a different entity. We describe a 6-year-old girl with typical "cheveux incoiffables," as confirmed by scanning electron microscopy, in combination with angel-shaped phalango-epiphyseal dysplasia. The relationship to a previously described syndrome of uncombable hair in combination with retinal dystrophy, juvenile cataract, and brachydactyly, in which both hair and skeletal abnormalities are common, remains to be further elucidated.

Abnormalities, Multiple↗
PubMed2004

[Surgical therapy of cone-shaped epiphyses of the proximal interphalangeal joints in tricho-rhino-phalangeal syndrome type I: a survey among three successive generations of a single family].

Report on 6 individuals, occurring in three successive generations of a single family, who were affected by "classical" tricho-rhino-phalangeal syndrome type I. Besides pear-shaped noses, enlarged philtrum, hypotrichosis, premature alopecia, coned epiphysis at the proximal interphaleangeal joints with consecutive ulnar deviation of the long fingers, dysostotic feet, Perthes-like hip dysplasia with multilocated joint laxity and hyposomia were impressing. Height was 168 cm, corresponding to the 50 (th) percentile. Radiographs and 3D-reconstruction of both hands showed asymmetrical brachymetacarpia, brachymesophalangia and painful invaginations of the middle phalanx bases (type 12 according to Giedion). Angular deformities are seen predominantly in the index finger decreasing to the ring finger. Painful cone-shaped epiphyses with ulnar dislocation of the PIP joints were stabilized following resection arthrodesis with tension band osteosynthesis. At reexamination 48 months postoperatively a painfree and powerful pinch grip function of both hands was restored. All family members who showed the phenotypical features of TRPS type I revealed in genetic analysis also identical mutations. Inside the exon 4 in position 1831 there was a nonsens mutation C --> T. Non-afflicted relatives did not show this mutation.

Adult↗
PubMedDate not supplied

[Determination of intramedullary extension of osteosarcomas using CT with special reference to the epiphyseal groove].

In a study of 21 patients with osteogenic sarcoma of the apendicular skeleton proven by biopsy, the diagnostic value of computed tomography (CT) for the assessment of intramedullary tumor growth, epiphyseal and joint involvement was determined. CT findings were correlated with histopathologic findings. 10 of the 21 tumors were located far from the epiphysis, in 11 cases the epiphysis was infiltrated. Tumorous involvement of the articular cartilage occurred in 3 patients, in one case the tumor extended beyond the joint. In 85% of the cases the CT report concerning tumor location in regard to the epiphysis was verified histologically. In 3 cases CT overestimated tumor extension.

Adolescent↗