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  1. Article: Mitochondrial DNA and Alzheimer’s disease: a first case–control study of the Tunisian population

    Ben Salem, Nesrine / Boussetta, Sami / de Rojas, Itziar / Moreno-Grau, Sonia / Montrreal, Laura / Mokni, Narjes / Mahmoud, Imene / Younes, Samia / Daouassi, Nizar / Frih-Ayed, Mahbouba / Hammami, Afef / Ben Ammar Elgaaied, Amel / Ruiz, Agustín / Cherni, Lotfi

    Molecular biology reports. 2022 Mar., v. 49, no. 3

    2022  

    Abstract: BACKGROUND: Alzheimer’s disease (AD) is the most common neurodegenerative disorder in humans and presents a major health problem throughout the world. The etiology of AD is complex, and many factors are implicated, including mitochondria. Mitochondrial ... ...

    Abstract BACKGROUND: Alzheimer’s disease (AD) is the most common neurodegenerative disorder in humans and presents a major health problem throughout the world. The etiology of AD is complex, and many factors are implicated, including mitochondria. Mitochondrial alteration has been proposed as a possible cause of AD. Therefore, several studies have focused on finding an association between inherited mitochondrial DNA variants and AD onset. METHODS: In this study, we looked, for the first time, for a potential association between mitochondrial haplogroups or polymorphisms and AD in the Tunisian population. We also evaluated the distribution of the major genetic risk factor for AD, the apolipoprotein E epsilon 4 (APOE ε4), in this population. In total, 159 single-nucleotide polymorphisms (SNPs) of mitochondrial DNA haplogroups were genotyped in 254 individuals (58 patients and 196 controls). An additional genotyping of APOE ε4 was performed. RESULTS: No significant association between mitochondrial haplogroups and AD was found. However, two individual SNPs, A5656G (p = 0.03821, OR = 10.46) and A13759G (p = 0.03719, OR = 10.78), showed a significant association with AD. APOE 4 was confirmed as a risk factor for AD (p = 0.000014). CONCLUSION: Our findings may confirm the absence of a relation between mitochondrial haplogroups and AD and support the possible involvement of some inherited variants in the pathogenicity of AD.
    Keywords apolipoprotein E ; case-control studies ; etiology ; genotyping ; mitochondria ; mitochondrial DNA ; molecular biology ; neurodegenerative diseases ; pathogenicity ; risk factors
    Language English
    Dates of publication 2022-03
    Size p. 1687-1700.
    Publishing place Springer Netherlands
    Document type Article
    ZDB-ID 186544-4
    ISSN 1573-4978 ; 0301-4851
    ISSN (online) 1573-4978
    ISSN 0301-4851
    DOI 10.1007/s11033-021-06978-7
    Database NAL-Catalogue (AGRICOLA)

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  2. Article ; Online: Mitochondrial DNA and Alzheimer's disease: a first case-control study of the Tunisian population.

    Ben Salem, Nesrine / Boussetta, Sami / de Rojas, Itziar / Moreno-Grau, Sonia / Montrreal, Laura / Mokni, Narjes / Mahmoud, Imene / Younes, Samia / Daouassi, Nizar / Frih-Ayed, Mahbouba / Hammami, Afef / Ben Ammar Elgaaied, Amel / Ruiz, Agustín / Cherni, Lotfi

    Molecular biology reports

    2021  Volume 49, Issue 3, Page(s) 1687–1700

    Abstract: Background: Alzheimer's disease (AD) is the most common neurodegenerative disorder in humans and presents a major health problem throughout the world. The etiology of AD is complex, and many factors are implicated, including mitochondria. Mitochondrial ... ...

    Abstract Background: Alzheimer's disease (AD) is the most common neurodegenerative disorder in humans and presents a major health problem throughout the world. The etiology of AD is complex, and many factors are implicated, including mitochondria. Mitochondrial alteration has been proposed as a possible cause of AD. Therefore, several studies have focused on finding an association between inherited mitochondrial DNA variants and AD onset.
    Methods: In this study, we looked, for the first time, for a potential association between mitochondrial haplogroups or polymorphisms and AD in the Tunisian population. We also evaluated the distribution of the major genetic risk factor for AD, the apolipoprotein E epsilon 4 (APOE ε4), in this population. In total, 159 single-nucleotide polymorphisms (SNPs) of mitochondrial DNA haplogroups were genotyped in 254 individuals (58 patients and 196 controls). An additional genotyping of APOE ε4 was performed.
    Results: No significant association between mitochondrial haplogroups and AD was found. However, two individual SNPs, A5656G (p = 0.03821, OR = 10.46) and A13759G (p = 0.03719, OR = 10.78), showed a significant association with AD. APOE 4 was confirmed as a risk factor for AD (p = 0.000014).
    Conclusion: Our findings may confirm the absence of a relation between mitochondrial haplogroups and AD and support the possible involvement of some inherited variants in the pathogenicity of AD.
    MeSH term(s) Alleles ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Apolipoprotein E4/genetics ; Apolipoproteins E/genetics ; Case-Control Studies ; DNA, Mitochondrial/genetics ; Genetic Predisposition to Disease ; Genotype ; Humans ; Mitochondria/genetics ; Polymorphism, Single Nucleotide/genetics ; Tunisia/epidemiology
    Chemical Substances Apolipoprotein E4 ; Apolipoproteins E ; DNA, Mitochondrial
    Language English
    Publishing date 2021-12-01
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 186544-4
    ISSN 1573-4978 ; 0301-4851
    ISSN (online) 1573-4978
    ISSN 0301-4851
    DOI 10.1007/s11033-021-06978-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Severe pneumococcal community-acquired pneumonia admitted to medical Tunisian ICU.

    Belkhouja, Khairallah / Ben Romdhane, Kaïs / Ghariani, Asma / Hammami, Afef / M'hiri, Emna / Slim-Saidi, Leila / Ben Khelil, Jalila / Besbes, Mohamed

    Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy

    2011  Volume 18, Issue 3, Page(s) 324–331

    Abstract: Streptococcus pneumoniae is the most common cause of community-acquired pneumonia (CAP). There are no available data about this disease in Tunisian intensive care patients. The objective of this study is to describe the clinical and microbiological ... ...

    Abstract Streptococcus pneumoniae is the most common cause of community-acquired pneumonia (CAP). There are no available data about this disease in Tunisian intensive care patients. The objective of this study is to describe the clinical and microbiological features of pneumococcal CAP and determine the prognostic factors. This is a retrospective cohort study of all pneumococcal CAP cases hospitalized in the medical intensive care unit (ICU) of Hospital A. Mami of Ariana (Tunisia) between January 1999 and August 2008. Included were 132 patients (mean age, 49.5 years; 82.6% males); 30 patients had received antimicrobial treatment before hospital admission. The mean of the Simplified Acute Physiology Score II was 32.9. All patients had an acute respiratory failure; 34 patients (25.8%) had pneumococcal bacteremic CAP. Among the isolated strains, 125 antimicrobial susceptibility tests were performed. The use of the new Clinical and Laboratory Standards Institute breakpoints for susceptibility when testing penicillin against S. pneumoniae showed that all isolated strains were susceptible to penicillin. The mortality rate was 25%. The need of mechanical ventilation at admission [odds ratio (OR), 3.4; 95% confidence interval (CI), 1.67-6.94; P = 0.001), Sepsis-related Organ Failure Assessment (SOFA) score at admission ≥4 (OR, 3.1; 95% CI, 1.56-6.13; P = 0.001), and serum creatinine at admission ≥102 μmol/l (OR, 1.8; 95% CI, 1.02-3.17; P = 0.043) were independent factors related to ICU mortality. In conclusion, pneumococcal CAP requiring hospitalization in the ICU is associated with high mortality. All isolated stains were susceptible to penicillin.
    MeSH term(s) Adult ; Aged ; Analysis of Variance ; Anti-Bacterial Agents/pharmacology ; Anti-Bacterial Agents/therapeutic use ; Community-Acquired Infections/drug therapy ; Community-Acquired Infections/epidemiology ; Community-Acquired Infections/microbiology ; Female ; Humans ; Male ; Microbial Sensitivity Tests ; Middle Aged ; Penicillins/pharmacology ; Penicillins/therapeutic use ; Pneumonia, Pneumococcal/drug therapy ; Pneumonia, Pneumococcal/epidemiology ; Pneumonia, Pneumococcal/microbiology ; Prognosis ; Retrospective Studies ; Streptococcus pneumoniae/drug effects ; Streptococcus pneumoniae/isolation & purification ; Treatment Outcome ; Tunisia/epidemiology
    Chemical Substances Anti-Bacterial Agents ; Penicillins
    Keywords covid19
    Language English
    Publishing date 2011-11-02
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 1355399-9
    ISSN 1437-7780 ; 1341-321X
    ISSN (online) 1437-7780
    ISSN 1341-321X
    DOI 10.1007/s10156-011-0337-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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