Jules Alao

Guangzhou Medical University

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Achille Massougbodji

Clinical Research Institute

Nadine Fiévet

Université Paris Cité

Michel Cot

Institut de Recherche pour le Développement

Philippe Deloron

Université Paris Cité

Sèm Ezinmègnon

Université d'Abomey-Calavi

Roméo Zoumenou

Université Paris Cité

Florence Bodeau‐Livinec

Milieux environnementaux, transferts et interactions dans les hydrosystèmes et les sols

Gwladys Bertin

Institut de Recherche pour le Développement

Claire Kamaliddin

University of Calgary

Gino Agbota

Université Paris Cité

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Université d'Abomey-Calavi

Université Paris Cité

Institut de Recherche pour le Développement

Inserm

Sorbonne Paris Cité

Mère et Enfant en Milieu Tropical

Centre National Hospitalier et Universitaire Hubert Koutoukou MAGA

Assistance Publique – Hôpitaux de Paris

Centre National de la Recherche Scientifique

Sorbonne Université

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Becker congenital myotonia in black African with molecular findings

Egyptian Journal of Medical Human Genetics (2022)

Simon Azonbakin Diane Adovoekpe Marius Adjagba Jules Alao Gratien Sagbo

Abstract Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. The causative factor is mutations in CLCN1 gene. Myotonia congenita is rarely reported in black especially in black African. Case presentation This is a case report of Becker Congenital Myotonia in a 36-year-old male from Benin. The symptoms arose at the age of 7 years with regular and progressive course and muscles pains. Electromyogram, blood sampling, laboratory investigations and muscles biopsy confirm the diagnostic with molecular finding. Conclusion The authors report a case of Becker congenital myotonia in a black African with molecular confirmation. Mexiletine was used as symptomatic agent with good results.

Myotonia congenita

Mexiletine

Muscle stiffness

10.1186/s43042-022-00290-0

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Parasites Causing Cerebral Falciparum Malaria Bind Multiple Endothelial Receptors and Express EPCR and ICAM-1-Binding PfEMP1

The Journal of Infectious Diseases (2017)

Nicaise Tuikue Ndam Azizath Moussiliou Thomas Lavstsen Claire Kamaliddin Anja T. R. Jensen

Plasmodium falciparum erythrocyte membrane protein 1 (PfEMP1) mediates the binding and accumulation of infected erythrocytes (IE) to blood vessels and tissues. Specific interactions have been described between PfEMP1 and human endothelial proteins CD36, intercellular adhesion molecule-1 (ICAM-1), and endothelial protein C receptor (EPCR); however, cytoadhesion patterns typical for pediatric malaria syndromes and the associated PfEMP1 members are still undefined. In a cohort of 94 hospitalized children with malaria, we characterized the binding properties of IE collected on admission, and var gene transcription using quantitative polymerase chain reaction. IE from patients with cerebral malaria were more likely to bind EPCR and ICAM-1 than IE from children with uncomplicated malaria (P = .007). The level of transcripts encoding CIDRα1.4 and CIDRα1.5 domain subclasses was higher in patients with severe disease (P < .05). IE populations exhibiting binding to all 3 receptors had higher levels of transcripts encoding PfEMP1 with CIDRα1.4 and Duffy binding-like (DBL)–β3 domains than parasites, which only bound CD36. These results underpin the significance of EPCR binding in pediatric malaria patients that require hospital admission, and support the notion that complementary receptor interactions of EPCR binding PfEMP1with ICAM-1 amplifies development of severe malaria symptoms.

Cerebral Malaria

10.1093/infdis/jix230

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Chromosome Polymorphism and Human Pathology: About 27 Cases of Chromosome 9 Inversion in the Beninese Population

Open Journal of Genetics (2021)

Simon Azonbakin Alfred Ouedraogo Alexis Ouedraogo Daniel Sewadouno Arnaud Agbanlinsou

The chromosomal polymorphism defined by variations of some chromosomal regions of a person (the constitutive heterochromatin and the short arms of the acrocentric chromosomes (13 to 15 and 21 - 22)) sometimes highlighted problems with regard to their safety and their pathogenicity. Polymorphisms are usually found in the same family and transmitted in the dominant Mendelian. Chromosome 9 inversion is a frequent phenomenon that some cytogeneticists consider as a variant of normal. Despite its classification as a minor chromosome rearrangement which does not correspond to abnormal phenotypes, many reports have raised conflicting opinions as well, and its complete safety is controversial. 27 cases of inversion of chromosome 9 were identified in our laboratory. The main indications for karyotype of the case of inv (9) were congenital cardiopathy (18.5%), sex development disorders of (18.5%), down syndrome (18.5%), and infertility (14.8%). This study stood out the observations of many authors who highlighted the involvement of inv (9) in the genesis of several pathologies.

Mendelian inheritance

Chromosomal rearrangement

Chromosomal inversion

10.4236/ojgen.2021.113003

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Caractérisation des liquides cérébro-spinaux dans les comas pédiatriques non-traumatiques en zone d’endémie palustre

Médecine et Maladies Infectieuses (2019)

A. Mowendabeka L. Ayédadjou E. Kinkpé J. Bailly Jules Alao

10.1016/j.medmal.2019.04.233

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Follow-up of Elevated Blood Lead Levels and Sources in a Cohort of Children in Benin

Shukrullah Ahmadi Barbara Le Bot Roméo Zoumenou Séverine Durand Nadine Fiévet

Lead exposure is associated with poor cognitive development in children. Very few studies in sub-Saharan Africa (SSA) have studied blood lead levels (BLLs) and non-gasoline sources of exposure in children. Data from a birth cohort in Benin (2011-2013) suggested that 58% of one-year-old children had BLLs > 50 ug/L. We aimed to investigate the prevalence of elevated BLLs (>50 µg/L and >100 µg /L) among 425 of these children at six-years-of-age in 2016-18 and to compare BLLs between age one-year and six-years and study sources of lead at six years. BLLs were analyzed by inductively coupled plasma mass spectrometry. Multiple linear regression and quantile regressions were used to study potential sources of lead. The prevalence of BLLs >50 µg/L in children was 59.5% [Geometric Mean (GM) 56.4 µg/L, 95% CI: 54.1 - 58.7] at six years of age compared to 54.8% [GM 56.5 µg/L, 95% CI: 53.4-59.6] at one year of age. The prevalence of children with BLLs >100 µg/L decreased from 14.4% at one year of age to 8.2% at six years of age. After adjustment for all other covariates, consumption of peanut more than once per month was significantly associated with a 22.0% (95% CI: 4.6, 42.5) increment in BLLs at six years compared with no consumption. Consumption of bushmeat killed by lead bullets at six years was associated with an increase in the higher percentiles of BLLs (P75) compared with the absence of this source. Other potential sources of lead associated with BLLs with marginal significance were consumption of rice, paternal occupational exposure, and the presence of activity with the potential use of lead. This prospective cohort confirms the persistently high prevalence of elevated BLLs in children residing in a rural region in the south of Benin as well as the presence of multiple and continuous sources of lead. These results highlight the need for prevention programs to reduce and eliminate lead exposure in children.

Blood lead level

10.20944/preprints202010.0119.v1

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Caractérisation des liquides cérébro-spinaux dans les comas pédiatriques non-traumatiques en one d'endémie palustre

HAL (Le Centre pour la Communication Scientifique Directe) (2019)

A. Mowendabeka L. Ayédadjou E. Kinkpé J. Bailly Jules Alao

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