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Biomedical subjects

M J Aldred

Publications and source records attributed to M J Aldred.

At least 37 records · Page 2Linked to original sources
PubMed1997

Orofacial granulomatosis: a diagnostic problem for the unwary and a management dilemma. Case reports.

Orofacial granulomatosis is a condition that may be difficult to diagnose for those unfamiliar with the entity. This paper describes two cases and addresses the presentation, pathogenesis and treatment. The clinical recognition of this condition is important as is the subsequent investigation by an appropriate specialist. Management of patients needs to take into account the results of further investigations, the patient's expectations, and the severity of the condition.

Anti-Inflammatory Agents↗
PubMed1996

Expression of the E-selectin gene in human gingival epithelial tissue.

E-selectin is an adhesion molecule, expressed by cytokine-activated endothelial cells, that participates in the binding of neutrophils. Recent studies in our laboratory documented binding of the E-selectin-specific monoclonal antibody H4/18 to keratinocytes in inflamed human oral mucosa, particularly gingival epithelium. To determine whether this immunoreactivity was due to expression of authentic E-selectin, the presence of E-selectin mRNA in gingival epithelium was analysed using the polymerase chain reaction (PCR). Reverse transcription of epithelial RNA and amplification of cDNA with E-selectin-specific primers resulted in the formation of a 178 nucleotide PCR product identical to that obtained from cytokine-activated endothelial cells. Sequencing of the PCR product revealed 100% homology between epithelial and endothelial E-selectin fragments. Epithelial preparations did not contain mRNA for von Willebrand factor, excluding the possibility of contamination by endothelial cells. These results confirm immunohistochemical studies of E-selectin immunoreactivity in human oral mucosa and demonstrate that E-selectin expression is not confined to endothelium.

Adult↗
PubMed1996

TCR V beta gene expression in lesional T lymphocyte cell lines in oral lichen planus.

UNLABELLED: To study V beta gene expression in oral lichen planus (OLP) lesional T lymphocytes cell lines. MATERIALS AND METHODS: Lesional T lymphocytes were isolated from eight OLP patients and cell lines established. The total RNA was extracted from these lymphocyte cell lines and reverse transcribed. cDNA was amplified by the polymerase chain reaction (PCR) using a panel of 26 V beta-specific oligonucleotide primers followed by qualitative analysis of the electrophoresed reaction products. RESULTS: V beta 1, 2, 3, 5.1, 6.1-3, 7, 8, 9, 22, 23, and 24 were represented consistently in all of the OLP samples, V beta 11, 12, and 17 were consistently negative, while the other V beta families (V beta 4, 5.2-3, 10, 13.1, 13.2, 14, 15, 16, 18, 19, 20, and 21) were variable. V beta 22 and 23 were the most strongly expressed in all patients. CONCLUSIONS: A limited T cell receptor (TCR) gene usage indicates a degree of oligoclonality within these lesional T lymphocyte cell lines from OLP. This implies that OLP may be an antigen-specific disease or linked to a limited number of superantigens.

Adult↗
PubMed1995

Amelogenesis imperfecta--towards a new classification.

This editorial reviews the history of the classification of amelogenesis imperfecta (AI). The limitations of the existing classification systems are discussed. An alternative classification is proposed based upon the molecular defect, biochemical result, mode of inheritance and phenotype in the family involved. While not all of the criteria for the proposed classification can yet be addressed, this scheme is proposed for future classification of AI cases and families.

Amelogenesis Imperfecta↗
PubMed1995

Cytokine profiles of Porphyromonas gingivalis-reactive T lymphocyte line and clones derived from P. gingivalis-infected subjects.

UNLABELLED: Porphyromonas gingivalis is generally recognized as a major periodontopathogen such that a study of T cell responses to this organism may help to elucidate immune regulation in periodontal disease. OBJECTIVE: The aim of this study was to examine interleukin (IL)-4, interferon (IFN)-gamma and IL-10 production by P. gingivalis-responsive T cell lines and clones derived from the peripheral blood of two P. gingivalis-infected subjects with different disease expression and from the gingival tissues of one of the P. gingivalis-infected subjects. MATERIALS AND METHODS: FACS analysis was used to determine the percentage of T cells staining positive for cytoplasmic IL-4, IFN-gamma and IL-10 and reverse transcriptase polymerase chain reaction (RT-PCR) was performed to determine the presence of mRNA for IL-4 and IFN-gamma in the T cell lines and clones. RESULTS: FACS analysis showed that virtually all the T cell lines and clones contained IL-4- and IFN-gamma-producing T cells. The RT-PCR results generally supported this trend. However, a higher percentage of cells in the clones derived from one subject produced IL-4 while a lower percentage produced IFN-gamma compared with the clones derived from the other subject. FACS analysis also demonstrated that the lines and clones derived from the two subjects showed differences in IL-10 production. CONCLUSION: This study has demonstrated that there may be differences in IL-4 and IL-10 production by the P. gingivalis responsive lines and clones derived from P. gingivalis-infected subjects with different disease expression. Any relationship to disease however, remains to be determined.

Analysis of Variance↗
PubMed1995

Hereditary gingival fibromatosis associated with hearing loss and supernumerary teeth--a new syndrome.

Hereditary gingival fibromatosis can occur as an isolated trait or as part of a syndrome. We report on three generations of one family featuring an autosomal dominant syndrome with variable expression of gingival fibromatosis with associated hearing deficiencies, hypertelorism, and supernumerary teeth. We propose that this represents a new syndrome within the spectrum of those including gingival enlargement.

Abnormalities, Multiple↗
PubMed1994

Hereditary gingival fibromatosis. Report of an extensive four-generation pedigree.

A Brazilian family with hereditary gingival fibromatosis is described with multiple affected subjects in four generations. A total of 50 (48%), of 105 at-risk offspring in a family of 132 members were affected, consistent with an autosomal dominant mode of inheritance. This family appears to represent the largest pedigree with this condition reported in the literature.

Adult↗
PubMed1993

Clinical features of a family with X-linked amelogenesis imperfecta mapping to a new locus (AIH3) on the long arm of the X chromosome.

X-linked amelogenesis imperfecta is a condition that affects dental enamel characterized by vertical banding of the enamel in heterozygous females in contrast with more uniform appearances in males. The clinical features of a family with amelogenesis imperfecta are described. The disease in this family has been shown to be unlinked to the amelogenin gene locus on the distal short arm of the X chromosome. It maps instead to a locus on the long arm of the X chromosome in the Xq22-q28 region. There was considerable variability in clinical features in affected females in this family in contrast with the more consistent findings in families linked to the amelogenin gene locus region.

Amelogenesis Imperfecta↗
PubMed1993

Enamel ultrastructure and protein content in X-linked amelogenesis imperfecta.

X-linked amelogenesis imperfecta has been proven in a number of families to be linked to or involve a variety of mutations in the X chromosome amelogenin gene. The purpose of this study was to characterize the enamel ultrastructure and enamel protein in a kindred affected by X-linked amelogenesis imperfecta. Exfoliated primary teeth were obtained from two related persons (one male, one female) who had X-linked amelogenesis imperfecta with marked hypoplasia. Normal enamel (age and sex matched) was used as the control for all analyses. The teeth were evaluated using light microscopy, scanning electron microscopy, and microradiography. The enamel of the heterozygous female was hypoplastic and rough with marked surface depressions. Enamel beneath these depressions was poorly organized and lacked a prismatic structure. The affected male had very thin enamel (approximately 40 microns) that also lacked an organized structure. Enamel protein from the teeth of the heterozygous female and the control was characterized using amino acid analysis. The protein content of the enamel of the female with amelogenesis imperfecta was 0.40% (N = 1) whereas the control enamel ranged from 0.17% to 0.45% (N = 4; mean = 0.34%). This study indicates that although the enamel in both the male and female with X-linked amelogenesis imperfecta displayed marked structural abnormalities the enamel protein was similar in quantity and amino acid composition for normal and X-linked amelogenesis imperfecta (female) enamel.(ABSTRACT TRUNCATED AT 250 WORDS)

Amelogenesis Imperfecta↗
PubMed1992

Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1).

A family with X-linked amelogenesis imperfecta (XAI) is described in which the disease is associated with a nonsense mutation in exon 5 of the amelogenin gene. This mutation involves a single base deletion (CCCC-->CCC) in the exon in an affected male, his sister and his mother. The effect of this deletion is to alter the reading frame and to introduce an inappropriate TGA stop codon (an opal mutation) into the exonic sequence of the amelogenin gene immediately 3' of the mutation. The clinical features in the examined members of this family indicate that, in some individuals, the most noticeable defect is of enamel hypoplasia. In others, the hypoplastic changes are subtle and might have been overlooked on cursory examination; the most noticeable change is of enamel colour, indicating a degree of hypomineralisation. We propose that the amelogenin gene is implicated in both the formation of enamel of normal thickness and in the normal mineralisation process.

Adolescent↗
PubMed1992

Unusual dentinal changes in dentinogenesis imperfecta associated with osteogenesis imperfecta. A case report.

A case is described of a boy with dentinogenesis imperfecta associated with osteogenesis imperfecta. The dentin of extracted deciduous teeth was found to show an abrupt transition to a normal tubular structure before a reversion to the more typical structure seen in dentinogenesis imperfecta. This change in the dentin appeared to have occurred in a chronologic manner. The possibilities that either a metabolic disturbance or a temporary reduced expression of the mutant gene had caused the abnormality and could account for the unusual histologic findings are discussed.

Child↗
PubMed1992

Genetic heterogeneity in X-linked amelogenesis imperfecta.

The AMELX gene located at Xp22.1-p22.3 encodes for the enamel protein amelogenin and has been implicated as the gene responsible for the inherited dental abnormality X-linked amelogenesis imperfecta (XAI). Three families with XAI have been investigated using polymorphic DNA markers flanking the position of AMELX. Using two-point linkage analysis, linkage was established between XAI and several of these markers in two families, with a combined lod score of 6.05 for DXS16 at theta = 0.04. This supports the involvement of AMELX, located close to DXS16, in the XAI disease process (AIH1) in those families. Using multipoint linkage analysis, the combined maximum lod score for these two families was 7.30 for a location of AIH1 at 2 cM distal to DXS16. The support interval around this location extended about 8 cM proximal to DXS92, and the AIH1 location could not be precisely defined by multipoint mapping. Study of recombination events indicated that AIH1 lies in the interval between DXS143 and DXS85. There was significant evidence against linkage to this region in the third family, indicating locus heterogeneity in XAI. Further analysis with markers on the long arm of the X chromosome showed evidence of linkage to DXS144E and F9 with no recombination with either of these markers. Two-point analysis gave a peak lod score at DXS144E with a maximum lod score of 2.83 at theta = 0, with a peak lod score in multipoint linkage analysis of 2.84 at theta = 0. The support interval extended 9 cM proximal to DXS144E and 14 cM distal to F9.(ABSTRACT TRUNCATED AT 250 WORDS)

Amelogenesis Imperfecta↗
PubMed1992

Scanning electron microscopic study of primary teeth in X-linked amelogenesis imperfecta.

Exfoliated primary teeth from a boy and a girl from a family with X-linked amelogenesis imperfecta (XAI) were studied by scanning electron microscopy. Teeth from the boy featured multiple shallow depressions on the enamel surface interspersed with deeper tubular voids. Shallow depressions and similar tubular defects were also apparent in control teeth from an unaffected individual but these were less frequent, irregularly distributed and less marked. Teeth from the heterozygous girl had broad furrows running longitudinally from the cusp(s) of the tooth cervically. These furrows were formed by a series of saucerized depressions which merged together in some areas. The bases of these depressions featured tubular voids extending into the enamel. These similar voids in teeth from both boy and girl probably represent enamel prism spaces vacant because of defective enamel protein synthesis and/or mineralization. Although the scanning electron microscopic features of teeth from females observed in this and previous studies of XAI differ, the enamel appears to be more similar in males with differing clinical XAI phenotypes.

Amelogenesis Imperfecta↗
PubMed1992

Salivary IgA antigliadin antibody as a marker for coeliac disease.

In recent years, serum antibodies to gliadin (AGA) have been reported to be useful markers of coeliac disease. IgA AGA have also been found in intestinal secretions and saliva in coeliac disease and may offer a convenient, non-invasive screening test. In order to test this hypothesis, salivary and serum AGA were measured in children with coeliac disease proved by biopsy and compared with several control groups. Measurement of salivary IgA AGA provided excellent discrimination between those children with coeliac disease and the control groups, and our study suggests that it may provide a rapid, non-invasive method of screening for this disease before intestinal biopsy.

Adolescent↗
PubMed1991

Clinical and radiographic dental findings in X linked hypohidrotic ectodermal dysplasia.

X linked hypohidrotic ectodermal dysplasia was studied in the dentition of both affected males and carrier females. Hypodontia was more severe in males than females and there were differences in the pattern of tooth absence between the sexes. Abnormal crown form, with the maximum diameter of the teeth being apically displaced, was noted particularly in the anterior teeth. Taurodontism was commonly seen radiographically.

Adolescent↗