7 research outputs found
First Principle Calculation of Accurate Electronic and Related Properties of Zinc Blende Indium Arsenide (zb-InAs)
No full textWe carried out a density functional theory (DFT) study of the electronic and related properties of zinc blende indium arsenide (zb-InAs). These related properties include the total and partial densities of states and electron and hole effective masses. We utilized the local density approximation (LDA) potential of Ceperley and Alder. Instead of the conventional practice of performing self-consistent calculations with a single basis set, albeit judiciously selected, we do several self-consistent calculations with successively augmented basis sets to search for and reach the ground state of the material. As such, our calculations strictly adhere to the conditions of validity of DFT and the results are fully supported by the theory, which explains the agreement between our findings and corresponding, experimental results. Indeed, unlike some 21 previous ab initio DFT calculations that reported zb-InAs band gaps that are negative or zero, we found the room temperature measured value of 0.360 eV. It is a clear achievement to reproduce not only the locations of the peaks in the valence band density of states, but also the measured values of the electron and hole effective masses. This agreement with experimental results underscores not only the correct description of the band gap, but also of the overall structure of the bands, including their curvatures in the vicinities of the conduction band minimum (CBM) and of the valence band maximum (VBM)
Accurate Electronic, Transport, and Related Properties of Wurtzite Beryllium Oxide (w-BeO)
No full textA Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family
No full textABSTRACT 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. Methods After obtaining consent, three affected siblings and their relatives underwent physical examinations by specialists and laboratory tests where possible. DNA was extracted from peripheral blood for genetic testing, including Whole Exome Sequencing (WES). Putative variants were confirmed through Sanger Sequencing and assessed for pathogenicity using in silico tools. Results The three siblings and their healthy parents, from a consanguineous marriage, presented with early‐onset progressive muscle weakness, walking difficulty, proximal motor deficits, severe muscle atrophy, hypotonia, skeletal deformities, joint hyperlaxity, ankyloses at the elbows and knees, keloid scars and dental crowding. No cardiac involvement was detected and creatine kinase (CK) levels were normal. All had low serum calcium levels, treated with oral supplements. Needle myography indicated myopathic patterns. WES identified a novel splice site variant in the first intron of COL6A1 (c.98‐1G>C), which segregated with the disease within the family. This variant is predicted to cause exon 2 skipping in COL6A1, with a high CADD score of 33 and Splice AI predicting it as deleterious. Conclusion We identified a novel COL6A1 variant in a consanguineous family, highlighting the need for further studies in larger African cohorts to enhance genetic epidemiology and prepare for future therapeutic research
A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl
No full textKey Clinical Message Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene. Abstract Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by an aplastic/hypoplastic clavicles, patent sutures and fontanels, dental abnormalities and a variety of other skeletal changes. We report a novel de novo variant in the RUNX2 gene causing a severe phenotype of CCD in a Malian girl
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings
No full textBackground and objectivesProgressive 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.MethodsParticipants were carefully examined and phenotyped. DNA was obtained for genetic analysis including whole exome sequencing (WES). In silico prediction tools and ACMG criteria were used to assess the deleteriousness of putative candidate variants.ResultsPedigree analysis suggests autosomal recessive inheritance patterns for one family and sporadic forms of PME for the two other cases. WES identified novel homozygous missense variants in all the three patients, one each for NHLRC1, EPM2A, and NEU1. The sequence variants segregated with PME in each family and in silico studies including protein 3D structures, CADD scores and ACMG criteria suggested that they were damaging.DiscussionPME is a group of clinically heterogeneous neurological disorders. Most reported cases in the literature are from European background with only a few cases described in North Africa. We report here novel pathogenic variants in three different genes causing PME phenotypes in three unrelated Malian patients, suggesting that genetic studies of underrepresented populations may expand the genetic epidemiology of PME. These findings also emphasize the need for inclusive genetic research to ensure a more targeted diagnostic and therapeutic approaches for diverse patient populations
Degree of anemia, indirect markers of hemolysis, and vascular complications of sickle cell disease in Africa
No full textKey Points
Severe baseline anemia is associated with leg ulcer, microalbuminuria, and echographic pulmonary hypertension in African SCD patients. These vascular complications of SCD are not independently associated with indirect markers of increased hemolysis.</jats:p
Abstracts of the 1st International Colloquium in Mine & Society
No full textThis book presents the abstracts of the selected contributions to the First International Colloquium on Mines and Society (CIMS) organized by The Higher Institute of Mining and Geology of Boke. The theme of this colloquium was "Mining and Sustainable Development, a major challenge for an Emerging Africa" which aims to bring together teachers, researchers, and Professionals from different backgrounds in order to exchange the results of their research work, share their points of view on the issue of mining and sustainable development. It also aims to define, in a collaborative and inclusive manner, research prospects or future projects between all the actors involved in this field.
Colloquium Title: 1st International Colloquium in Mine & SocietyTheme: Mining and Sustainable Development, A Major Challenge for an Emerging AfricaColloquium Date: 20-22 May 2022Colloquium Location: A L’Hôtel Rio Nunez de BokeColloquium Organizer: The Higher Institute of Mining and Geology of Bok
