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Biomedical subjects

D Sillence

Publications and source records attributed to D Sillence.

At least 19 recordsLinked to original sources
PubMed1992

Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata.

Peroxisomes were studied in the liver of two rhizomelic chondrodysplasia punctata patients using electron microscopy and catalase cytochemistry. Immunoelectron microscopy was carried out on the liver of one of these patients using antibodies to catalase, acyl-CoA oxidase, bifunctional protein, 3-ketoacyl-CoA thiolase and a 68 kDa peroxisomal membrane protein, in conjunction with protein-A colloidal gold. Moderately to markedly enlarged, flocculent peroxisomes were found in both patients. In one patient they were very heterogeneous with regard to the number per hepatocyte. The peroxisomes had very low levels of catalase as indicated by cytochemistry and immunocytochemistry. The three beta-oxidation enzymes were localised normally within the peroxisomes. The 68 kDa membrane protein was localised to the peroxisomal membranes. Some extra membrane loops were also identified using this antibody.

3,3'-Diaminobenzidine↗
PubMed1992

A new syndrome? Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus.

Two strikingly similar twin sisters presented with characteristic facial anomalies and distinctive radiographic findings. The occurrence of this unique pattern of malformations in two sisters with unaffected parents suggests recessive inheritance. They most likely represent a previously unrecognised malformation syndrome.

Abnormalities, Multiple↗
PubMed1992

Familial Scheuermann disease: a genetic and linkage study.

Scheuermann juvenile kyphosis or Scheuermann disease is the most frequent cause of kyphosis in adolescence. However, the natural history and genetic basis is still unknown. Reports of identical radiological changes in monozygotic twins, sib recurrence, and transmission over three generations suggest underlying heritability. In this study, 12 probands were referred to us. Upon radiological examination of the proband's parents and sibs, seven were shown to have familial Scheuermann disease with an autosomal dominant pattern of inheritance. Of the remaining five probands, four had chromosomal anomalies. The three largest pedigrees were subjected to linkage analysis with three candidate genes: Duffy, COL1A1, and COL1A2. Linkage of Scheuermann disease was excluded with Duffy (lod score = -2.195 at theta = 0.10) and COL1A2 (lod score = -2.750 at theta = 0.05) in these families.

Adolescent↗
PubMed1991

Lumbar platyspondyly--characteristic sign of Ehlers-Danlos syndrome.

Three patients with Ehlers-Danlos syndrome have been observed to have isolated flattening of the lumbar vertebral bodies. Flattening of the lumbar vertebrae with normal appearance of the rest of the spine may be an important radiological clue to early recognition or confirmation of the diagnosis of Ehlers-Danlos syndrome.

Adolescent↗
PubMed1988

The rib gap anomaly in partial or mosaic trisomy 8.

Gaps in the first ribs were observed in two children, one with partial and the other with mosaic trisomy for chromosome 8. The sign may be considered in conjunction with other features as a relative indication for chromosomal studies.

Bone and Bones↗
PubMed1987

Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes.

Thirteen newborns with lethal short rib-polydactyly (SRP) have been reviewed, 11 with SRP type III (Verma-Naumoff) and 2 with SRP type II (Majewski). In the former group there were three sets of siblings. The excess of males with SRP type III (Verma-Naumoff) is confirmed in this present study. A high frequency of phenotypic females including sex-reversed constitutional males with SRP type I (Saldino-Noonan) is in marked contrast to these findings in SRP type III. Possible hypotheses include variable expressivity in non-Majewski short rib-polydactyly syndromes with sex-reversed and constitutional female cases tending to show more severe phenotypic expression both in terms of major anomalies and skeletal dysplastic effects.

Bone and Bones↗
PubMed1986

A new type of achondrogenesis.

A new type of neonatal death dwarfism, resembling the achondrogenesis syndromes on clinical examination but presenting distinctive radiographic and microscopic features has been described. It presents another, new form of achondrogenesis.

Achondroplasia↗
PubMed1986

Prenatal screening.

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Congenital Abnormalities↗
PubMed1985

Dyssegmental dysplasia (report of two cases with a review of the literature).

Two cases of dyssegmental dysplasia, a rare lethal skeletal dysplasia in the newborn, are reported. Two different forms of dyssegmental dysplasia can be distinguished--the lethal Silverman type and the less severe Rolland-Desbuquois type. In this report, both cases are of the Silverman type. Histopathology of chondro-osseous tissue confirms the similarity in pathologic findings to Kniest dysplasia.

Female↗
PubMed1985

Boomerang dysplasia.

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Abnormalities, Multiple↗
PubMed1981

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.

Skin fibroblasts of human males affected with adrenoleukodystrophy (ALD) have previously been shown to be abnormal with respect to C26 fatty acid content. Skin fibroblast clones from heterozygotes in three families segregating this mutation have been analyzed and are of two types: clones with normal ratios of C26 to C22 fatty acids and clones with an excess of C26 fatty acids similar to that found in cells of affected males. This indicates not only that the locus is X linked but also that it is subject to inactivation. In most of the heterozygotes there were significantly more clones of abnormal type than those expressing the normal allele, indicating a proliferative advantage in vitro for skin fibroblasts of mutant type. The increased levels of fatty acids in plasma in most heterozygotes and the phenotype of blood cells of women heterozygous for both ALD and glucose-6-phosphate dehydrogenase (G6PD) in one family are evidence that selection favoring the mutant allele may occur in vivo as well as in vitro and may explain why many heterozygotes manifest clinical symptoms of the disease. These studies have also revealed the close linkage between ALD and G6PD loci, because there are no recombinants among 18 informative offspring of doubly heterozygous mothers. Therefore, the ALD locus can be mapped on the human X chromosome near the G6PD locus at Xq28.

Adrenal Insufficiency↗
PubMed1981

Diastrophic dysplasia: the death of a variant.

Diastrophic dysplasia is a distinct autosomal recessive disorder originally described in 1960. Since that time, a number of patients with similar but less severe involvement have been diagnosed as having a "diastrophic variant" disorder. This study reviews the radiological features of classic diastrophic dysplasia and compares them with the radiological findings in 26 patients with the diastrophic variant disorder. It is concluded that there is a wide variability in the phenotypic expression of diastrophic dysplasia even within sibships, and that cases of diastrophic variant disorder are actually mild forms of diastrophic dysplasia.

Adolescent↗
PubMed1980

An embedding method for histochemical studies of undecalcified skeletal growth plate.

We have used glycol methacrylate to study undecalcified skeletal growth plate and subchondral bone. Minor modifications of the original technique including dehydration in glycol methacrylate vacuum infiltration and polymerization in the cold make it quite suitable for embedding of such tisssues. Moreover, specimens can be processed quickly and the morphologic and biochemical integrity of the tissue retained so that histochemical procedures can be readily applied. Collagen, glycosaminoglycan, glycogen, lipid, calcium and the activity of alkaline and acid phosphatase were localized. This technique appears to be very useful for studying skeletal tissues.

Acid Phosphatase↗