Browsing by Author "Ali Pacha, Lamia"

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    In-vitro immunomodulatory effects of nicotine on Nitric Oxide, interleukin 1β and interleukin 37 production in human peripheral blood mononuclear cells (PBMC) from patients with Behçet diseas
    (Elsevier, 2021) Ghozali, Nourelhouda; Belguendouz, Houda; Messaoudene, Djamel; Hadjimi, Zohra; Ihammichene, Sara; Chekaoui, Arezki; Benchabane, Sara; Terahi, Malika; Kediha, Islam; Ali Pacha, Lamia; Touil-Boukoffa, Chafia
    Behçet's disease is a chronic systemic inflammatory disorder associated with a cytokine profile disruption and increased nitric oxide levels. In our current study we sought to evaluate the in-vitro modulatory effect of nicotine, the principal alkaloid of tobacco, on nitric oxide (NO), interleukin 1β (IL-1β) and interleukin 37 (IL-37) production during Behçet's disease. Peripheral blood mononuclear cells cultures were performed with or without nicotine (200 μg/ml). Culture supernatants were harvested after 24 h of incubation. NO, IL-1β and IL-37 measurements were, respectively, performed by modified Griess method and ELISA sandwich. Our results showed that nicotine significantly reduced NO and IL-1β levels in patients with Behçet’s disease, while it increased IL-37 production. Our results showed no sex differences in the effects of nicotine on the production of nitric oxide and IL-1β nor IL-37 in PBMC of patients. Our findings suggest that nicotine may provide a potential therapeutic strategy targeting inflammation during Behçet’s disease.
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    Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
    (BioMed Central, 2015) Hamza, Wahiba; Ali Pacha, Lamia; Hamadouche, Tarik; Muller, Jean; Drouot, Nathalie; Ferrat, Farida; Makri, Samira; Chaouch, Malika; Tazir, Meriem; Koenig, Michel
    Background: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with great genetic and phenotypic heterogeneity, over 30 genes/loci have been associated with more than 20 different clinical forms of ARCA. Genetic heterogeneity combined with highly variable clinical expression of the cerebellar symptoms and overlapping features complicate furthermore the etiological diagnosis of ARCA. The determination of the most frequent mutations and corresponding ataxias, as well as particular features specific to a population, are mandatory to facilitate and speed up the diagnosis process, especially when an appropriate treatment is available. Methods: We explored 166 patients (115 families) refered to the neurology units of Algiers central hospitals (Algeria) with a cerebellar ataxia phenotype segregating as an autosomal recessive pattern of inheritance. Genomic DNA was extracted from peripheral blood samples and mutational screening was performed by PCR and direct sequencing or by targeted genomic capture and massive parallel sequencing of 57 genes associated with inherited cerebellar ataxia phenotypes. Results: In this work we report the clinical and molecular results obtained on a large cohort of Algerian patients (110 patients/76 families) with genetically determined autosomal recessive ataxia, representing 9 different types of ARCA and 23 different mutations, including 6 novel ones. The five most common ARCA in this cohort were Friedreich ataxia, ataxia with isolated vitamin E deficiency, ataxia with oculomotor apraxia type 2, autosomal recessive spastic ataxia of Charlevoix-Saguenay and ataxia with oculomotor apraxia type 1. Conclusion: We report here a large cohort of patients with genetically determined autosomal recessive ataxia and the first study of the genetic context of ARCA in Algeria. This study showed that in Algerian patients, the two most common types of ataxia (Friedreich ataxia and ataxia with isolated vitamin E deficiency) coexist with forms that may be less common or underdiagnosed. To refine the genotype/phenotype correlation in rare and heteregeneous diseases as autosomal recessive ataxias, more extensive epidemiological investigations and reports are necessary as well as more accurate and detailed clinical characterizations. The use of standardized clinical and molecular protocols would thus enable a better knowledge of the different forms of ARCA