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Biomedical subjects

R Stanescu

Publications and source records attributed to R Stanescu.

At least 55 records · Page 3Linked to original sources
PubMed1982

[Heterogeneity of formes frustes of Morquio's disease].

Two children presenting with a mild form of Morquio's syndrome are reported. Clinically, there was a characteristic brevity of the trunk and slit lamp examination showed discrete corneal opacities. On X-ray films, generalized plastyspondylia was moderate but it was associated with hypoplasia of the odontoid process. Acetabula were enlarged with coxa valga; obliquity of inferior radio-cubital extremity was associated with a sharp pattern of the proximal end of metacarpi. Epiphyseal cartilage chondrocytes also looked like those of Morquio's syndrome: large cells containing numerous vacuoles, limited by a single smooth membrane. On the other hand, no keratosulfate was found in urines and N-acetylgalactosamine-6-sulfate-sulfatase and beta-galactosidase assays in fibroblasts were normal. Thus, this mild form is different from the so-called Morquio's syndromes types A and B.

Child↗
PubMed1981

[A special form of dominant spondylo-epiphyseal dysplasia (author's transl)]].

A special form of dominant spondylo-epiphyseal dysplasia has been observed in a 3 year-old boy and in his father. The roentgenological examination showed alterations involving chiefly the upper femoral extremities and the spine. This might suggest the diagnosis of spondylo-epiphyseal dysplasia congenita. However the clinical features were different. The alterations of the growth plate were also different from those found in typical forms of spondylo-epiphyseal dysplasia congenita. Large dilatations of the rough endoplasmic reticulum of chondrocytes are present in both syndromes but their content had different histochemical features. The cartilage alterations were also different from those found in the dominant form of poly-epiphyseal dysplasia as well as in pseudo-achondroplasia.

Adult↗
PubMed1980

The mild form of pseudoachondroplasia. Identity of the morphological and biochemical alterations of growth cartilage with those of typical pseudoachondroplasia.

A 9-year-old boy from an incestuous union presented with mild clinical and roentgenological manifestations of pseudoachondroplasia. Tibial growth cartilage was obtained during a routine orthopedic procedure. Microscopic, histochemical and biochemical analysis showed changes identical to those of 6 sporadic cases of typical pseudoachondroplasia. The results support a concept of pathogenetic homogeneity of pseudoachondroplasia.

Achondroplasia↗
PubMed1980

[Dysplasia spondylo-epiphysealis congenita: its heterogeneity (author's transl)].

A study of epiphyseal cartilage in two children presenting with all the clinical and radiologic features of the dysplasia spondylo-epiphysealis congenita showed abnormalities different from those usually described. In addition to dilatations of the endoplasmic reticulum, there were two types of inclusions observed in the chondrocytes, granules and spirilla, which were limited by a smooth membrane. The intercellular matrix consisted of a dense tangle of fine fibers and numerous dense granules. These findings suggest a heterogeneity for this disease.

Cartilage↗
PubMed1980

[A syndrome of congenital diabetes with disordered epiphyseal growth with autosomal recessive inheritance (author's transl)].

A child is described with insulin dependent diabetes of neonatal onset and a disorder of endochondral growth. Radiological and histological bone appearances differ from those observed in other types of chondrodysplasia. The association of diabetes and chondrodysplasia is not likely to occur by chance but is probably a genuine clinical entity. The condition is probably inherited as a autosomal recessive and its possible pathogenesis is discussed.

Child↗
PubMed1979

Link-proteins and non-collagenous proteins from normal and chondrodysplastic cartilages.

Baboon and human articular and growth cartilage was extracted with 4M guanidinium chloride in the presence of proteolysis inhibitors. After dialysis against 8M urea pH 6.8 the proteins were separated from proteoglycans by ion-exchange chromatography. The concentrated and reduced protein fractions was analyzed by SDS-PAGE. Bands corresponding to collagen and to 6 major non-collegenous proteins were found. Two of the latter were identified with the link-proteins. By using small columns and microconcentration procedures, a gel-electrophoretic analysis of link-proteins extracted from small pieces of cartilage was performed and ten cases of osteochondrodysplasias were studied. No abnormalities were detected in the following syndromes: achondroplasia, diastrophic dwarfism, thanatophoric dwarfism, Jeune disease, spondyloepiphyseal dysplasia congenita, Kozlowski syndrome, osteogenesis imperfecta, polyepiphyseal dysplasia with diabetes mellitus.

Achondroplasia↗
PubMed1979

[A new method for extraction of cartilage proteoglycans: the electrical extraction (author's transl)].

Sections (40 mu thick) or fine powder of baboon articular cartilage were submitted to electric current (40-60 V/cm) in a free zone electrophoretic system and the extraction of proteoglycans from cartilage was followed by histochemical and biochemical methods. An extraction of about 40 per cent of the total hexuronic acid was obtained in 5 hours. The metachromasia showed that the proteoglycans resistant to electrical extraction are found in the chondrocytes lacunae and in the calcified zone. Gel electrophoretic studies showed the absence of proteoglycan aggregates and a material with a migration similar or a little faster than that of proteoglycan subunits. In some experiments a material with the migration of chondroitin sulphate was found. The electrical extraction could give information about the relationship between collagen framework and proteoglycans in the cartilage matrix itself and about proteoglycan organization.

Animals↗
PubMed1978

[A new type of sialidosis with kidney disease: nephrosialidosis. II. Anatomic study].

The anatomical, macroscopical, histological, histochemical and ultrastructural findings in nephrosialidosis have certain similarities to those found in mucolipidoses. (Excess of complex lipid in neural tissue and an excess of light coloured material in the reticulo-endothelial system that is not easily characterised). Several distinct features help to distinguish nephrosialidosis from closely related conditions (renal lesions, storage of material in sympathetic ganglia).

Adolescent↗
PubMed1978

[Fibrochondrogenesis].

Fibrochondrogenesis is a lethal form of dwarfism similar to thanatophoric dwarfism. It is distinguished radiologically by the widening of the metaphyses of the long bones, and, on lateral x-ray of the spine, by a median fissure of the body of the vertebra without any loss of vertebral height. The condition is inherited an autosomal recessive. A study of growing cartilage confirms that this disease is a distinct entity as there is fibrosis of the cartilage which is never present in thanatophoric dwarfism or in the different forms of achondrogenesis.

Bone Diseases, Developmental↗
PubMed1976

[Differences in distribution of type I and type II collagens in the superficial and intermediary zones of articular cartilage].

Undecalcified frozen sections, 40 mu thick, were cut from the knee articular cartilage of young adult Baboons (Papio papio). The sections were freeze dried and the superficial and the intermediate zones were separated by microdissection under a binocular dissecting microscope. The material of each zone was cleaved with CNBr and the major peptides were analyzed by discelectrophoresis in SDS polyacrylamide. Peptides alpha, CB 3,5 and alpha, (II) CB 10 were used as characteristic markers for type I and type II collagen respectively. The method could detect as little as 5-10% of type I collagen of total collagen in mixtures. The thin superficial zone contains type I and type II collagen. The intermediate zone contains only type II collagen. The possible biological significance of this different anatomical distribution of the two types of collagen is discussed. This special distribution could explain the contradictory data from the literature concerning the presence of type I collagen in the articular cartilage.

Animals↗