Browsing by Author "Noubiap, Jean"

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    Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome
    (BioMed Central Ltd, 2013) Wonkam, Ambroise; Noubiap, Jean; Bosch, Jason; Dandara, Collet; Toure, Genevieve
    BACKGROUND: Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. KID appears to be genetically heterogeneous and most cases are caused by GJB2 mutations. Mutations in African patients have been rarely described.CASE PRESENTATION:We report on two unrelated Cameroonian individuals affected with sporadic KID, presenting with the classic phenotypic triad. The two patients were heterozygous for the most frequent p.Asp50Asn mutation. This first report in patients from sub-Saharan African origin supports the hypothesis that the occurrence of KID due to p.Asp50Asn mutation in GJB2 seems not to be population specific. CONCLUSIONS: Our finding has implication in medical genetic practice, specifically in the molecular diagnosis of KID in Africans. These cases also reveal and emphasize the urgent need to develop appropriate policies to care for patients with rare/orphan diseases in Sub-Saharan Africa, as many of these cases become more and more recognizable.
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    Is air pollution a risk factor for rheumatoid arthritis?
    (BioMed Central Ltd, 2015) Essouma, Mickael; Noubiap, Jean
    Rheumatoid arthritis is a chronic inflammatory debilitating disease triggered by a complex interaction involving genetic and environmental factors. Active smoking and occupational exposures such as silica increase its risk, suggesting that initial inflammation and generation of rheumatoid arthritis-related autoantibodies in the lungs may precede the clinical disease. This hypothesis paved the way to epidemiological studies investigating air pollution as a potential determinant of rheumatoid arthritis. Studies designed for epidemiology of rheumatoid arthritis found a link between traffic, a surrogate of air pollution, and this disease. Furthermore, a small case-control study recently found an association between wood smoke exposure and anticyclic citrullinated protein/peptide antibody in sera of patients presenting wood-smoke-related chronic obstructive pulmonary disease. However, reports addressing impact of specific pollutants on rheumatoid arthritis incidence and severity across populations are somewhat conflicting. In addition to the link reported between other systemic autoimmune rheumatic diseases and particulate matters/gaseous pollutants, experimental observation of exacerbated rheumatoid arthritis incidence and severity in mice models of collagen-induced arthritis after diesel exhaust particles exposure as well as hypovitaminosis D-related autoimmunity can help understand the role of air pollution in rheumatoid arthritis. All these considerations highlight the necessity to extend high quality epidemiological researches investigating different sources of atmospheric pollution across populations and particularly in low-and-middle countries, in order to further explore the biological plausibility of air pollution's effect in the pathogenesis of rheumatoid arthritis. This should be attempted to better inform policies aiming to reduce the burden of rheumatoid arthritis.
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    Prevalence, infectivity and correlates of hepatitis B virus infection among pregnant women in a rural district of the Far North Region of Cameroon
    (BioMed Central Ltd, 2015) Noubiap, Jean; Nansseu, Jobert; Ndoula, Shalom; Bigna, Jean; Jingi, Ahmadou; Fokom-Domgue, Joel
    BACKGROUND:Epidemiological data on hepatitis B virus (HBV) infection among pregnant women in Cameroon are very scarce, especially in the rural milieu. The purpose of this study was to determine the prevalence and factors associated with HBV infection, and the infectivity of rural pregnant women in the Far North Region of Cameroon. METHODS: A cross-sectional study was conducted in three rural health facilities of the Guidiguis health district between December 2013 and March 2014. We consecutively recruited 325 pregnant women attending antenatal consultations. A pretested questionnaire was used to collect socio-demographic data and factors associated with HBV infection. The presence of hepatitis B surface antigen (HBsAg), hepatitis B e antigen (HBeAg) and human immunodeficiency virus (HIV) were determined using commercial test strips. Regression analyses were used to assess correlates of HBV infection. RESULTS: The mean age was 24.4 (SD5.6) years. Most women were married (97.2%) and housewives (96.4%), with less than secondary education level (80%). Only 4 women (1.2%) had been vaccinated against HBV. Thirty-three women (10.2%) were HBsAg-positive, of whom 4 (12.1%) were positive to HBeAg. The prevalence of HIV infection was 2.5% (8/325). Overall, 5 (1.5%) women were co-infected with HIV and HBV. Independent correlates of HBV infection included history of blood transfusion (adjusted odd ratio 12.59, 95% CI 1.46-108.89; p=0.021) and concurrent infection by HIV (adjusted odd ratio 22.53, 95% CI 4.76-106.71; p<0.0001). CONCLUSION: The prevalence of HBV infection among pregnant women in this rural milieu is high. History of blood transfusion and HIV infection are highly associated with HBV infection. The relative low rate of women positive to both HBsAg and HBeAg suggests that perinatal transmission of HBV might not be the prevailing mode of HBV transmission in this area.
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    Therapeutic potential of folic acid supplementation for cardiovascular disease prevention through homocysteine lowering and blockade in rheumatoid arthritis patients
    (BioMed Central Ltd, 2015) Essouma, Mickael; Noubiap, Jean
    Rheumatoid arthritis (RA) is a chronic inflammatory disease that preferentially affects joints, and characterized by an approximately two-fold increased risk of cardiovascular diseases compared with the general population. Beyond classical cardiovascular risk factors, systemic inflammatory markers are primarily involved. Hence, anti-inflammatory strategies such as homocysteine-lowering interventions are warranted. Indeed, hyperhomocysteinemia is commonly found in RA patients as a result of both genetic and non-genetic factors including older age, male gender, disease-specific features and disease-modifying antirheumatic drugs. Most importantly in the pathophysiology of hyperhomocysteinemia and its related cardiovascular diseases in RA, there is a bi-directional link between immuno-inflammatory activation and hyperhomocysteinemia. As such, chronic immune activation causes B vitamins (including folic acid) depletion and subsequent hyperhomocysteinemia. In turn, hyperhomocysteinemia may perpetrate immuno-inflammatory stimulation via nuclear factor appa B enhancement. This chronic immune activation is a key determinant of hyperhomocysteinemia-related cardiovascular diseases in RA patients. Folate, a homocysteine-lowering therapy could prove valuable for cardiovascular disease prevention in RA patients in the near future with respect to homocysteine reduction along with blockade of subsequent oxidative stress, lipid peroxidation, and endothelial dysfunction. Thus, large scale and long term homocysteine-lowering clinical trials would be helpful to clarify the association between hyperhomocysteinemia and cardiovascular diseases in RA patients and to definitely state conditions surrounding folic acid supplementation. This article reviews direct and indirect evidence for cardiovascular disease prevention with folic acid supplementation in RA patients.