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1.
JCEM Case Rep ; 1(3): luad047, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37908567

RESUMO

Maternally inherited diabetes and deafness (MIDD) syndrome refers to a rarely diagnosed disorder caused by pathogenic variants in mtDNA. It was first identified in 1992 and, to date, is considered underdiagnosed because of misclassification to type 1 or type 2 diabetes mellitus. MIDD reflects a multisystem metabolic syndrome commonly resulting in insulin-requiring diabetes and sensorineural deafness but can also lead to a broad range of other manifestations. The spectrum of pathology differs among individuals, likely because of varied degrees of heteroplasmy associated with mtDNA. Heteroplasmy also creates diagnostic difficulties, with a high index of suspicion required to diagnose MIDD in some cases. Here, we review a patient with MIDD who presented with an atypical clinical diabetes picture, additionally documenting his pedigree. To our knowledge, this is the first Cypriot reported with MIDD.

2.
J Clin Periodontol ; 38(6): 517-24, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21488931

RESUMO

AIM: Periodontitis and caries are two of the most prevalent diseases to affect humans, however; the individual susceptibility to these diseases varies significantly in the population. The aim of this investigation, therefore, was to examine the influence of host genotype on the composition of health-associated supragingival and subgingival microbiomes. MATERIALS AND METHODS: Subgingival and supragingival plaque was collected from orally and systemically healthy adult monozygotic and dizygotic twin pairs. Zygosity was determined by multiplexed PCR amplification of 13 short tandem repeats. Terminal restriction fragment length polymorphism was used for bacterial community profiling. The number of species shared by the twin pairs as well as the similarity of the microbial communities between the twins was computed and compared using two-sample t-test RESULTS: There was no difference in the number of species shared by the twin pairs as well as the similarity of the microbial communities between the twin dyads. Age was not a modifier of genetic influence on these microbial parameters. There was no difference between monozygotic and dizygotic twin pairs in the correlation between supragingival and subgingival community similarity. CONCLUSION: The contributory role of host genotype, if any, is not apparent on an established, health-associated oral microbial community.


Assuntos
Placa Dentária/genética , Placa Dentária/microbiologia , Doenças em Gêmeos/microbiologia , Interações Hospedeiro-Patógeno/genética , Interações Hospedeiro-Patógeno/imunologia , Adulto , DNA Bacteriano/análise , Doenças em Gêmeos/genética , Feminino , Predisposição Genética para Doença/genética , Genótipo , Humanos , Masculino , Consórcios Microbianos/genética , Polimorfismo de Fragmento de Restrição , Inquéritos e Questionários , Gêmeos Dizigóticos , Gêmeos Monozigóticos , Adulto Jovem
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