Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0031099 (periodontitis)
 12,489 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study was carried out to investigate the relationship between juvenile and non-juvenile peridontitis (JP, non-JP), ABO blood groups and haemoglobin type. The heamoglobin electrophoresis was determined by routine technique using cellulose acetate paper and tris buffer at pH 8.5. Tile blood grouping was carried out on all specimens. Forty Nigerian adolescent individuals were investigated, twenty of which were diagnosed as having JP while the remaining 20 were diagnosed a having plaque-induced chronic periodontitis (non JP). This latter group was used as the control group. All the JP patients were either of blood group B/AB, rhesus positive while the non-JP subjects had B rhesus positive/negative, O rhesus positive/negative or AB rhesus positive. The differences between the results of the test and the control groups were statistically significant P < 0.05. All the forty subjects (JP and non-JP) had the haemoglobin type A and none of them exhibited the S and C haemoglobin types. There is a need to further investigate the relationship between juvenile periodontitis, ABO blood group and the common haemoglobin types (A, AS, S, C, and SS) at molecular level.
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PMID:The relationship between juvenile and non-juvenile periodontitis, ABO blood groups and haemoglobin types. 1275 66

Individuals with the Bombay phenotype (Oh) in the ABO blood group system do not express the H, A, and B antigens but have no clinical symptoms. Bombay phenotype with clinical symptoms has been described in leukocyte adhesion deficiency type II (LAD II), a fucosylation disorder caused by mutations in SLC35C1. Only few LAD II patients have been described so far. Here we describe an additional patient, a 22-year old male, born to unrelated parents, presenting with inflammatory skin disease, periodontitis, growth, and mental retardation, admitted to the department of dentistry for treatment under general anesthesia. Pre-operative routine investigations revealed the presence of the Bombay phenotype (Oh). Genomic sequencing identified two novel triplet deletions of the SLC35C1 gene. Functional investigations confirmed the diagnosis of LAD II. Therapy with oral fucose led to the disappearance of the chronic skin infections and improvements in behavior and attention span.
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PMID:Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing. 3299