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1.
Clin Case Rep ; 12(2): e8551, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38415192

RESUMO

Key Clinical Message: Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene. Abstract: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by an aplastic/hypoplastic clavicles, patent sutures and fontanels, dental abnormalities and a variety of other skeletal changes. We report a novel de novo variant in the RUNX2 gene causing a severe phenotype of CCD in a Malian girl.

2.
Mali Med ; 35(2): 47-49, 2020.
Artigo em Francês | MEDLINE | ID: mdl-37978773

RESUMO

INTRODUCTION: Gingival tattooing is a traditional practice consisting of artificial pigmentation of the pink gum in black-gray. The objective of this study was to determine the prevalence and level of perception of gingival tattooing in women who came for consultation in the dentistry department of the Infirmary Hospital of Bamako (Mali). METHODOLOGY: This was a cross-sectional, descriptive study lasting 3 months from January 01 to March 31, 2018. Data collection was done on the basis of a survey form developed for this purpose depending on the objectives of the study. The variables studied are epidemiological and cultural data. The data has been processed by Epi-info software version 3.5.3. RESULTS: In this study, the prevalence of gingival tattooing was 69.43%. The most represented age group was 26 - 35, followed by 46 - 55. Maxillary localization alone represented 90.16% followed by maxillary and mandibular localization in 06.33%. The Fulani represented 39.58% followed by the Sarakolés in 32.55%. According to this study, 65, 11% thought that the gum tattoo was pretty (good). CONCLUSION: In addition to the aesthetic side created by the contrast of the effects of the gray-black color of the gum with the milky white of the teeth, gingival tattooing is often used in the traditional treatment of periodontopathies.


INTRODUCTION: Le tatouage gingival est une pratique traditionnelle consistant à une pigmentation artificielle de la gencive rose en noire-grise. L'objectif de cette étude était de déterminer la prévalence et le niveau de perception du tatouage gingival chez les femmes venues en consultation dans le service d'odontologie de l'Infirmerie Hôpital de Bamako (Mali). MÉTHODOLOGIE: Il s'agissait d'une étude transversale, descriptive d'une durée de 3 mois allant du 01 janvier au 31 mars 2018. La collecte des données a été faite sur la base d'une fiche d'enquête élaborée à cet effet en fonction des objectifs de l'étude. Les variables étudiées sont les données épidémiologiques et culturelles. Les données ont été traitées par le logiciel épi- info version 3.5.3. RÉSULTATS: Dans cette étude, la prévalence du tatouage gingival était de 69,43%. La tranche d'âge la plus représentée était celle de 26 ­ 35 ans, suivie de celle de 46 ­ 55 ans. La localisation au maxillaire seul représentait 90,16% suivi de la localisation maxillaire et mandibulaire dans 06,33%. Les peulhs représentaient 39,58% suivie des Sarakolés dans 32,55%. Selon cette étude, 65, 11% pensaient que le tatouage gingival est jolie (bon). CONCLUSION: En plus du côté esthétique créé par le contraste des effets de la couleur grise-noire de la gencive avec le blanc-laiteux des dents, le tatouage gingival est souvent utilisé dans le traitement traditionnel des parodontopathies.

3.
J Med Virol ; 81(2): 217-23, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19107966

RESUMO

HIV-1 diagnosis in babies born to seropositive mothers is one of the challenges of HIV epidemics in children. A simple, rapid protocol was developed for quantifying HIV-1 DNA in whole blood samples and was used in the ANRS French pediatric cohort in conditions of prevention of mother-to-child transmission. A quantitative HIV-1 DNA protocol (LTR real-time PCR) requiring small blood volumes was developed. First, analytical reproducibility was evaluated on 172 samples. Results obtained on blood cell pellets and Ficoll-Hypaque separated mononuclear cells were compared in 48 adult HIV-1 samples. Second, the protocol was applied to HIV-1 diagnosis in infants in parallel with plasma HIV-RNA quantitation. This prospective study was performed in children born between May 2005 and April 2007 included in the ANRS cohort. The assay showed good reproducibility. The 95% detection cut-off value was 6 copies/PCR, that is, 40 copies/10(6) leukocytes. HIV-DNA levels in whole blood were highly correlated with those obtained after Ficoll-Hypaque separation (r = 0.900, P < 0.0001). A total of 3,002 specimens from 1,135 infants were tested. The specificity of HIV-DNA and HIV-RNA assays was 100%. HIV-1 infection was diagnosed in nine infants before age 60 days. HIV-DNA levels were low, underlining the need for sensitive assays when highly active antiretroviral therapy (HAART) has been given. The performances of this HIV-DNA assay showed that it is adapted to early diagnosis in children. The results were equivalent to those of HIV-RNA assay. HIV-DNA may be used even in masked primary infection in newborns whose mothers have received HAART.


Assuntos
Terapia Antirretroviral de Alta Atividade , DNA Viral/sangue , Infecções por HIV/diagnóstico , Soropositividade para HIV , HIV-1/isolamento & purificação , Reação em Cadeia da Polimerase/métodos , Adulto , Fármacos Anti-HIV/uso terapêutico , DNA Viral/análise , DNA Viral/genética , Feminino , Infecções por HIV/tratamento farmacológico , Infecções por HIV/imunologia , Infecções por HIV/transmissão , HIV-1/genética , HIV-1/imunologia , Humanos , Lactente , Recém-Nascido , Leucócitos Mononucleares/virologia , Mães , Gravidez , Estudos Prospectivos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
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