Prevalence and patterns of chromosomal abnormalities in patients suspected of genetic disorders: insights from a study in Ouagadougou, Burkina Faso.

BACKGROUND: Chromosomal abnormalities contribute significantly to human morbidity and mortality, leading to various pathologies. This study aimed to assess the prevalence of chromosomal abnormalities among patients suspected of genetic disorders in Ouagadougou, Burkina Faso. METHODS AND RESULTS: A descriptive cross-sectional study was conducted from January 1, 2018, to July 16, 2021, involving patients from different university hospitals in Ouagadougou. Blood samples were collected at Hôpital Saint Camille de Ouagadougou (HOSCO) and sent to the Cerba laboratory in France for cytogenetic analysis. A total of 61 cases with suspected genetic disorders were referred for cytogenetic examination. The average age of the patients was 26.81 years ± 18.92, ranging from 1 month to 68 years. Among the cases, 37 (60.65%) exhibited chromosomal abnormalities. Structural abnormalities were the most prevalent (78.38%), while number anomalies accounted for 21.62% of the cases. Chronic myeloid leukemia was detected in 59.45% of cases, followed by free and homogeneous trisomy 21 (18.91%) and sexual inversion (8.10%). Additionally, one case each of Turner syndrome and Klinefelter syndrome were identified. CONCLUSION: This this study revealed a high frequency of chromosomal abnormalities, with a predominance of structural abnormalities, among patients suspected of genetic disorders in Ouagadougou. The findings emphasize the significance of genetic evaluation and counseling services in the region, particularly for autosomal abnormalities.

First detection of mutated ERG11 gene in vulvovaginal Candida albicans isolates at Ouagadougou/Burkina Faso.

BACKGROUND: Vulvovaginal candidiasis is an important cause of morbidity among women due to Candida species. In the last decades, resistance to azoles, first-line antifungals has increased. One molecular mechanism of azole resistance by Candida involves mutations in the ERG11 gene encoding lanosterol 14-α-demethylase, the target enzyme. This study was conducted to identify the clinical Candida species associated in vulvovaginal candidiasis; to determine the rate of antifungal resistance among Candida albicans isolates and to determine mutated ERG11 gene at Saint Camille Hospital in Ouagadougou, Burkina Faso. METHODS: Antifungals susceptibility were performed using Kirby-Bauer disk diffusion method. ERG11 gene was detected using conventional PCR in C. albicans isolates resistant to at least one azole. RESULTS: Out of 262 clinical strains isolated, C. albicans accounted for 59.90%, followed by Candida glabrata 27.86%, Candida famata 7.25%, Candida tropicalis 3.05% and Saccharomyces cerevisiae 1.91%. Resistance rate of fluconazole to C. albicans was 59.54%. ERG11 gene was found in 9.79% of 92 C. albicans strains resistant to azoles. CONCLUSIONS: This detection of mutated ERG11 gene in C. albicans is the first in Burkina Faso and may be a cause of azole resistance in recurrent Candida vulvovaginitis.

Enigma of the high prevalence of anti-SARS-CoV-2 antibodies in HIV-positive people with no symptoms of COVID-19 in Burkina Faso.

The severe acute respiratory syndrome due to the new coronavirus (SARS-CoV-2), responsible for coronavirus disease (COVID-19), has severely tested the global health response capacity, with predictions of a fatality for developing countries. To evaluate the prevalence of anti-SARS-CoV- 2 antibodies in People Living with HIV (PLHIV) with no COVID-19 symptoms in Burkina Faso. Seroprevalence was estimated by performing a qualitative screening test for SARS-CoV-2-specific immunoglobulins. The STANDARDTM Q COVID-19 IgM/IgG Combo Test kit from SD BIOSENSOR was used. Parameters like HIV plasma viral load, CD4 T cell count and C-Reactive Protein (CRP) expression were estimated. This study enrolled a total of 200 PLHIV aged 4-87 years who are asymptomatic for COVID-19. There were 36 (18%) positive for SARS-CoV-2 IgM and/or IgG of which three (1.50%) were positive for SARS-CoV-2 IgM and 33 (16.50%) for IgG. Among participants diagnosed as IgM positive, 66.67% (2/3) had the highest HIV viral loads with the lowest CD4 T cell counts (p<0.0001). The expression of CRP was relatively higher in COVID-19 IgG positive individuals (7.95±12.5 mg/L) than negative individuals (6.26±6.92 mg/L; p=0.37). The rate of IgG and IgM SARS-CoV-2 immunoglobulin carriage (18%), accompanied by a relatively high CRP levels, was revealed in this study among PLHIV. This serologic evidence and mild inflammation suggest that Burkina Faso escaped the worst, not necessarily because there were not many SARS-CoV-2 infections in its population, but because factors including genetic and environmental, might have resulted in many asymptomatic carriers.