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At least 829 records · Page 46Linked to original sources
PubMed2001

Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement.

A case of an affected girl with spondylo-meta-epiphyseal dysplasia (SMED) is reported. The disease was detected at birth as a congenital dysplasia with generalized lesions. At 10 months of age, abnormal calcifications appeared in both wrists. The patient evolved with severe growth retardation and multiple neurological and respiratory complications, followed by death at 21 months of age.

Calcinosis↗
PubMed1997

Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda.

We describe twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia (SED) tarda. The proband presented at 17 years with nystagmus and esotropia due to a severe Chiari malformation. A milder, asymptomatic Chiari I malformation was seen in his brother and tonsillar ectopia in his father. Although these malformations have not been described in patients with SED, they are relatively common in other bony abnormalities, particularly those involving the cranio-cervical junction. The concordance of the Chiari malformations or tonsillar ectopia in all three family members with SED suggests that this association is not coincidental. It seems possible that the downward displacement of the cerebellum occurs secondary to primary osseous abnormality, rather than due to a primary disturbance of embryological development. The lack of additional brain malformations in our patients is consistent with this theory.

Adolescent↗
PubMed1998

The orthopaedic aspects of multiple epiphyseal dysplasia.

Five cases of multiple epiphyseal dysplasia (MED) were treated from 1985-1996 at the Orthopaedics and Trauma Department of SSK Izmir Educational Hospital. Four patients were female and one was male. The pedigrees of the first two female patients had the same features of inter-related marriages. The patients have been followed up for 5.5-11 years (average of 7.5 years). Surgical operations were mostly required in the lower limbs. Problems in the hips required adductor myotomy, the Soutter procedure, total hip replacement, and pertrochanteric extension osteotomy. Management of the knees required supracondylar shortening and extension osteotomy of the femur, high tibial extension osteotomy, debridement of the knee joint with removal of osteophytes, ogleotomy of the patellar lengthening of the knee flexors and posterior capsulotomy. Interphalangeal arthrodesis for hammer toes, extension osteotomy of the head of the first metatarsals, and Kellers operation were carried out in the foot. In the upper limb decompression and anterior transposition of the ulnar nerve, debridement of the elbow joint, extension and valgus osteotomy of the distal radius, and extension osteotomy of the head of the first metacarpal were required.

Adult↗
PubMed2000

Total knee arthroplasty in patients with inherited dwarfism--a report of five knee replacements in two patients with Morquio's disease type A and one with spondylo-epiphyseal dysplasia.

In Morquio's disease and in hereditary spondylo-epiphyseal dysplasia of longer duration, malalignment, instability and unfavourable anatomy are generally the main surgical problems, but as these patients nowadays do not have a reduced life expectancy, it is worthwhile giving them a functional replacement for their severely deformed and painful knees. We report three patients with inherited dwarfism, in whom a replacement of the knee was performed.

Adult↗
PubMed2002

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.

Mutations in the gene encoding cartilage oligomeric matrix protein ( COMP) cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). More than 40 mutations have been identified; however, genotype-phenotype relationships are not well delineated. Further, mutations other than in-frame insertion/deletions and substitutions have not been found, and currently known mutations are clustered within relatively small regions. Here we report the identification of nine novel and three recurrent COMP mutations in PSACH and MED patients. These include two novel types of mutations; the first, a gross deletion spanning an exon-intron junction, causes an exon deletion. The second, a frameshift mutation that results in a truncation of the C-terminal domain, is the first known truncating mutation in the COMP gene. The remaining mutations, other than a novel exon 18 mutation, affected highly conserved aspartate or cysteine residues in the calmodulin-like repeat (CLR) region. Genotype-phenotype analysis revealed a correlation between the position and type of mutations and the severity of short stature. Mutations in the seventh CLR produced more severe short stature compared with mutations elsewhere in the CLRs ( P=0.0003) and elsewhere in the COMP gene ( P=0.0007). Patients carrying mutations within the five-aspartates repeat (aa 469-473) in the seventh CLR were extremely short (below -6 SD). Patients with deletion mutations were significantly shorter than those with substitution mutations ( P=0.0024). These findings expand the mutation spectrum of the COMP gene and highlight genotype-phenotype relationships, facilitating improved genetic diagnosis and analysis of COMP function in humans.

Achondroplasia↗
PubMed1998

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are common skeletal dysplasias with impaired enchondral ossification and premature degenerative joint disease. The two disorders were in the past considered to be distinct clinical entities; however, recent studies have proven that both diseases can result from mutations of the gene encoding cartilage oligomeric matrix protein (COMP). To characterize further COMP mutations and investigate phenotype-genotype relationships, we screened this gene in 15 patients with PSACH or MED by directly sequencing polymerase chain reaction products from genomic DNA. We identified ten mutations involving conserved residues among the eight calmodulin-like repeats of the gene product: seven were novel missense mutations in exons 9, 10, 11, 13 or 14, and the other three resulted from deletion of one of the five GAC repeats in exon 13. We have found that the GAC repeats in the 7th calmodulin-like repeat in exon 13 represent a hot-spot for mutation, and that mutations in the 7th calmodulin-like repeat produce severe PSACH phenotypes while mutations elsewhere in the gene exhibit mild PSACH or MED phenotypes. These genotype-phenotype correlations may facilitate molecular diagnosis and classification of PSACH and MED, and provide insight into the relationship between structure and function of the COMP gene product.

Achondroplasia↗
PubMed2005

Impact of growth plate senescence on catch-up growth and epiphyseal fusion.

In mammals, longitudinal bone growth occurs rapidly in prenatal and early postnatal life, but then slows and eventually ceases. This deceleration, which reflects a decline in chondrocyte proliferation, was previously attributed to a hormonal or other systemic mechanism. However, new evidence suggests that it is due to a local mechanism within the growth plate. In particular, recent findings suggest that growth plate chondrocytes have a finite proliferative capacity that is gradually exhausted, causing growth to slow and finally stop. This concept has provided insight into clinical phenomena including catch-up growth after transient growth inhibition, catch-down growth after transient estrogen exposure, and epiphyseal fusion.

Aging↗
PubMed1998

Possible complications of magnetic coil stimulation in living tissue: assessment of changes in epiphyseal cartilage.

To assess the influence of repeated magnetic coil stimulation (MCS) of the peripheral nervous system on epiphyseal cartilage, we evaluated histological and structural changes after repeated MCS applied to the knee joints of young rabbits. There was a slight but significant histological change when repeated MCS at 100% intensity (100% of the maximal output) exceeded 600 times per day. However, we found no gross structural effects on the bone. We conclude that, if these results can be extrapolated to humans, MCS should be safe for stimulating peripheral nervous system for clinical electrophysiologic examinations in children.

Animals↗
PubMed2003

Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.

Mutations in the cartilage oligomeric matrix protein (COMP) gene are responsible for two dominantly inherited skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Mutation analysis of the COMP gene in Korean patients with PSACH and MED was performed. All nine patients with PSACH had mutations in the COMP gene, while three of the five patients with MED had detectable COMP mutations. Eight mutations, including three novel mutations, were identified in the COMP gene in the patients with PSACH and MED. Six mutations were found within the calmodulin-like repeats (CLRs) domain, especially in the seventh CLR and the other two mutations were in exon 16 outside of CLRs, which encode the C-terminal globular domain. Among the three novel mutations, two were missense mutations (Asp473Tyr, Asp482His) and one was a consecutive two-codon deletion, delAspAsp(469-473) in the five consecutive aspartic acid residues. All three novel mutations produced the PSACH phenotype.

Adolescent↗
PubMed1984

Protamine modulation of sulfotransferase activity from chicken embryo epiphyseal cartilages changes with the degree of sulfation of the acceptor.

The affinity of a chicken embryo epiphyseal cartilage sulfotransferase, whose endogenous acceptor has been removed by protamine, was 10 times greater for partially sulfated chondroitins than for totally desulfated chondroitins, suggesting that the sulfation of these glycosaminoglycans increased sharply after the addition of the first sulfate groups to the polysaccharide. This sulfotransferase was activated by protamine, presenting Michaelis-Menten kinetics when transferring [35S]sulfate from [35S]3'-phosphoadenosine 5'-phosphosulfate to the totally desulfated chondroitin, whereas sigmoidal kinetics was observed when partially sulfated chondroitin 6-sulfate was employed as substrate. This sigmoidal kinetics was attributed to the combined effect of protamine that both activated the enzyme and removed the sulfate acceptor from solution. The effect of other basic substances on the activity of the sulfotransferase was also reported.

Animals↗
PubMed1988

Purification and partial amino acid sequencing of alkaline phosphatase from rachitic rat epiphyseal cartilage.

1. Alkaline phosphatase of rachitic epiphyseal cartilage was purified to apparent homogeneity by sequential application of monoclonal affinity, DEAE-cellulose, and Sepharose CL-6B chromatography. Sodium dodecyl sulfate polyacrylamide gel electrophoresis of the enzyme showed the presence of a dominant band corresponding to a molecular weight of 80,000. 2. The N-terminal amino acid sequence was determined as follows: Phe-Val-Pro-Glu-Lys5-Glu-Lys-Asp-Pro-Ser10-Tyr-Trp-Arg-Gln-+ ++Gln15-Ala-Gln-Glu- Thr-Leu20-Lys-Asn-Ala-Leu-Lys25-Leu-Gln-Lys-?-Asn-Val-Asn-?- Ala-Lys35-?-Ile-?- Met-Phe40-Leu-(Gly?)-Asp-(Ala/Gly?)-Met45-?-Val-?- (Val/Gly?).

Alkaline Phosphatase↗
PubMed1993

A large-deformation, finite-element study of chondrodiatasis in the canine distal femoral epiphyseal plate.

A large-deformation, finite-element analysis was conducted to model stress fields around the developing growth plate as a first approach to comprehend the clinical application of traction for limb lengthening procedures. The model chosen was a cross section through the distal femoral growth plate of a 14-week-old dog. The chosen section passed through two of the conformational bends (mammillary processes) formed by the natural convolutions of the physis. Three different loading conditions were applied to the distal femoral epiphyseal model. The model also examined the effects of different values of Young's modulus of the growth-plate cartilage. The cortical bone in all cases, experienced the highest stresses. In the growth plate, the highest principal stresses occurred where the physis intersects cortical bone. There were localized stresses that were higher than those that caused fracture in a rabbit model [Guse et al., J. Orthop. Res. 7, 667-673 (1989)]. Results also indicated the following: a small tilt of 0.1 degree in loading application increases the maximum principal stresses and the von Mises stresses in certain regions of the growth plate by about 8%; the shearing stresses in the growth plate are sensitive to Young's modulus of the growth plate; and traction pins that do not grip the cancellous bone in the epiphysis will increase the regions of high principal stress in the growth plate.

Animals↗
PubMed1989

Proximal femoral surface strain gauge analysis of a new epiphyseal prosthesis.

This paper describes a new type of proximal femoral, replacement arthroplasty and its preliminary, pre-clinical, evaluation. The prosthesis was designed as a replacement for the femoral capital epiphysis. It comprises a thin, metal, articular shell and an underlying 'epiphyseal' replacement which is modulus-matched to adjacent proximal femoral bone. Surface strain gauge analysis of the proximal femur under conditions simulating static single leg stance demonstrated that the new prosthesis maintains an essentially normal femoral strain distribution. It is hoped that selective load transmissions across the prosthesis-bone interface should result in less post-implantation proximal bone resorption.

Hip Prosthesis↗
PubMedDate not supplied

Matrix vesicle calcification in rat epiphyseal growth plate cartilage prepared anhydrously for electron microscopy.

The preparation of mineralizing tissues for electron microscopy by methods that involve the use of aqueous solvents may result in translocation and/or removal of mineral, leading to the possible erroneous interpretation of initial calcifying loci. The failure of a recent cryoultramicrotomy study to detect a mineral phase associated with matrix vesicles raised doubts about the role of the matrix vesicle in initial mineralization and prompted us to reexamine the ultrastructure of calcifying cartilage using three different anhydrous preparatory techniques. Matrix vesicles or structures similar in profile and location were identified in rat epiphyseal growth plate cartilages that had been subjected to freeze-substitution, cryoultramicrotomy, or ethylene glycol fixation. Furthermore, mineral deposits, as confirmed by energy dispersive x-ray analysis, were observed within or in close association with the matrix vesicles in the extracellular matrix of the growth plate cartilage by all three methods. No evidence of mineral deposition at other sites preceding matrix vesicle calcification was found. Our studies support the conclusion of many investigations that matrix vesicles are the initial site of growth plate calcification.

Animals↗
PubMed1991

Epidermal growth factor receptor gene expression in avian epiphyseal growth-plate cartilage cells: effect of serum, parathyroid hormone and atrial natriuretic peptide.

Avian chondrocytes and fibroblasts, derived from epiphyseal growth-plate and skin, respectively, were cultured in vitro. In chondrocytes, epidermal growth factor (EGF) caused a dose-dependent stimulation of proliferation. EGF receptor mRNA was not detected with the v-erb B probe in chondrocytes cultured in the presence of 5% fetal calf serum (FCS). In the absence of FCS in the medium, a time-dependent increase in the level of EGF receptor mRNA was observed. Parallel changes were also observed in the level of EGF receptor, as demonstrated by immunofluorescence using antibodies directed against avian EGF receptor. In avian fibroblasts, EGF receptor mRNA and EGF receptor levels were not affected by FCS. Furthermore, FCS did not affect the level of thyroid hormone receptor mRNA (using v-erb A as a probe) in either chondrocytes or fibroblasts. Parathyroid hormone (PTH), which acts as a mitogen in avian chondrocytes attenuated--whereas atrial natriuretic peptide (ANP), a suppressor of chondrocyte proliferation, enhanced--EGF receptor mRNA. The present results show that avian growth-plate chondrocytes respond to EGF and bear EGF receptors. The levels of EGF mRNA and EGF receptor are inversely related to cell proliferation. The results also support previous suggestions that PTH and ANP play important roles in chondrocyte proliferation, possibly through their effect on the synthesis of the EGF receptor.

Animals↗
PubMed1980

Subcellular fractionation of epiphyseal cartilage: isolation of matrix vesicles and profiles of enzymes, phospholipids, calcium and phosphate.

Epiphyseal cartilage was fractionated into subcellular components by nonenzymatic methods, and analyzed for activity of marker enzymes, for phospholipids, and for calcium and inorganic phosphate. Alkaline phosphatase, a marker enzyme for matrix vesicles and plasma membranes, was concentrated in the 100 000 X g (microsomal) pellet and, upon subsequent fractionation, in the low-density fractions from the sucrose gradient. Mitochondrial and endoplasmic reticular enzymes were localized primarily in the 20 000 X g pellet, lysosomal enzymes predominantly in the supernate from the microsomal pellet. Two phospholipids characteristic of matrix vesicles, sphingomyelin and phosphatidylserine, were enriched in the low-density sucrose fractions; however, unlike matrix vesicles, there was no depletion in phosphatidylcholine or increase in lysophospolipids. Ca and inorganic P were concentrated in the higher-density fractions, the amounts in the lower-density fractions being somewhat lower than those seen in matrix vesicles. The alkaline phosphatase-rich, low-density fractions were thus not identical to matrix vesicles isolated by collagenase digestion, but rather appear to be composed primarily of plasma membranes. Enzyme profiles indicate they were relatively free of mitochondrial, endoplasmic reticular and lysosomal contaminants. the data further indicate that significant modification of the phospholipid, electrolyte, and possibly enzyme content of chondrocyte plasma membranes, must occur during blebbing and matrix vesicle formation.

Alkaline Phosphatase↗