Development of a new spectral database of photo-induced pesticide compounds for an automatic monitoring and identification system.

Background: Due to the widespread use of pesticides, it is necessary to monitor surface water quality for environmental protection, industrial use and tap water production. Many analytical methods based on chromatographic separations and mass spectrometry detection can be used, but they are complex and expensive. They also require sampling and transport to the laboratory, which delays the results.

Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali.

Background And Objectives: Developmental and epileptic encephalopathies (DEEs) are a group of neurological disorders characterized by early-onset seizures that are often resistant to treatment, by electroencephalographic abnormalities, and by developmental delay or regression. Their genetic basis remains largely unelucidated, especially in sub-Saharan Africa (SSA). We investigated the genetic bases of DEE in three Malian families.

[Knowledge And Practice Attitude Of Mothers Regarding Routine Immunization, Comparative Study].

Background: Routine immunization is a key strategy in the prevention of vaccine-preventable diseases. The objective of the study was to assess the knowledge and attitudes of mothers regarding the practice of vaccination in rural and urban areas.

Methods: This is a comparative descriptive cross-sectional study that took place in two health areas (urban and rural) over a period of three (3) months from October to December 2022.

A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.

Background: Congenital muscular dystrophies (CMDs) are diverse early-onset conditions affecting skeletal muscle and connective tissue. This group includes collagen VI-related dystrophies such as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM), caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. We report a consanguineous Malian family with three siblings affected by UCMD due to a novel homozygous splice site variant in the COL6A1 gene.

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.

Background And Objectives: Progressive myoclonic epilepsy (PME) is a group of neurological disorders characterized by recurrent myoclonic seizures with progressive neurological deterioration. We investigated the genetics of three unrelated patients with PME from Mali, a country in sub-Saharan Africa highly underrepresented in genetic and genomic research.

Methods: Participants were carefully examined and phenotyped.