Genotypic spectrum of albinism in Mali.

Albinism is a phenotypically and genetically heterogeneous condition characterized by a variable degree of hypopigmentation and by ocular features leading to reduced visual acuity. Whereas numerous genotypic studies have been conducted throughout the world, very little is known about the genotypic spectrum of albinism in Africa and especially in sub-Saharan Western Africa. Here we report the analysis of all known albinism genes in a series a 23 patients originating from Mali. Four were diagnosed with OCA 1 (oculocutaneous albinism type 1), 17 with OCA 2, and two with OCA 4. OCA2 variant NM_000275.3:c.819_822delinsGGTC was most frequently encountered. Four novel variants were identified (two in TYR, two in OCA2). A deep intronic variant was found to alter splicing of the OCA2 RNA by inclusion of a pseudo exon. Of note, the OCA2 exon 7 deletion commonly found in eastern, central, and southern Africa was absent from this series. African patients with OCA 1 and OCA 4 had only been reported twice and once, respectively, in previous publications. This study constitutes the first report of the genotypic spectrum of albinism in a western sub-Saharan country.

Climate and COVID-19 transmission: a cross-sectional study in Africa.

The role of climate in the Coronavirus disease 2019 (COVID-19) transmission appears to be controversial, as reported in earlier studies. In Africa, the subject is poorly documented. In this study, over the period from January 1st, 2020 to September 31, 2022, the daily variations in cumulative confirmed cases of COVID-19 for each African country (54 countries) are modelled through time-series-based approaches and using meteorological factors as covariates. It is suggested from the findings that climate plays a role in COVID-19 transmission since at least one meteorological factor is found to be significant in 32 countries. In decreasing order, the most often occurring meteorological factors are dewpoint temperature, relative and absolute humidity, average temperature and solar radiation. Most of these factors show a lagged effect with confirmed cases (between 0 and 28 days). Also, some meteorological factors exhibit contrasting effects on COVID-19 transmission, resulting in both positive and negative association with cumulative cases, therefore highlighting the complex nature of the interplay between climate and COVID-19 transmission.

Understanding the COVID-19 pandemic prevalence in Africa through optimal feature selection and clustering: evidence from a statistical perspective.

The COVID-19 pandemic, which outbroke in Wuhan (China) in December 2019, severely hit almost all sectors of activity in the world as a consequence of the restrictive measures imposed. Two years later, Africa still emerges as the least affected continent by the pandemic. This study analyzed COVID-19 prevalence across African countries through country-level variables prior to clustering. Using Spearman-rank correlation, multicollinearity analysis and univariate filtering, 9 country-level variables were identified from an initial set of 34 variables. These variables relate to socioeconomic status, population structure, healthcare system and environment and the climatic setting. A clustering of the 54 African countries is further carried out through the use of agglomerative hierarchical clustering (AHC) method, which generated 3 distinctive clusters. Cluster 1 (11 countries) is the most affected by COVID-19 (median of 63,508.6 confirmed cases and 946.5 deaths per million) and is composed of countries with the highest socioeconomic status. Cluster 2 (27 countries) is the least affected (median of 4473.7 confirmed cases and 81.2 deaths per million), and mainly features countries with the least socioeconomic features and international exposure. Cluster 3 (16 countries) is intermediate in terms of COVID-19 prevalence (median of 2569.3 confirmed cases and 35.7 deaths per million) and features countries the least urbanized and geographically close to the equator, with intermediate international exposure and socioeconomic features. These findings shed light on the main features of COVID-19 prevalence in Africa and might help refine effectively coping management strategies of the ongoing pandemic. Supplementary Information: The online version contains supplementary material available at 10.1007/s10668-022-02646-3.

[Bilateral chorioretinian colobome: about a case]. / Colobome chorioretinien bilateral: à propos d'un cas.

Chorioretinian coloboma often raises clinical issues leading sometimes to some confusion. Nevertheless, diagnosis must be as accurate as possible for several reasons: the association of some congenital anomalies of the papilla with other neurologic, endocrine and systemic disorders as well as issues in differential diagnosis between it and other ophthalmic disorders. We report a clinical case of a 6 year old child, the first boy in a family with 2 children, with bilateral papillar coloboma and without other associated malformations. Patient?s history: normal birth and updated immunisation status. His father and his 4-year-old sister underwent ophthalmic examination which was unremakable. However his mother had diverge strabismus in the right eye.