Research of the Philadelphia Chromosome in Chronic Myeloid Leukemia: Diagnostic and Prognostic Interests

Myeloproliferative syndromes are cell proliferation involving one or more medullary lines without blocking maturation. Chronic myeloid leukemia (CML) is the most common of these syndromes, it corresponds to the monoclonal proliferation of a multipotent stem cell; the myeloblastic or lymphoblastic transformation of CM. has a poor prognosis. The Philadelphia chromosome t(9;22)(q34;q11) is the first cytogenetic abnormality that has been associated with a malignant process. It is found in 89 to 95% of CML. The search for the Philadelphia chromosome (Ph1) has multiple interests: Diagnostic, prognostic and in therapeutic monitoring. The search for the Philadelphia chromosome by molecular cytogenetics makes it possible to remedy the poverty of cell suspensions in metaphase to take up the inconclusive results of classic cytogenetics on nuclei in interphase and to detect residual disease during therapeutic monitoring. Through the literature review, we highlight the importance of the identification of the Philadelphia chromosome in Myeloproliferative Syndromes for the improvement of the quality healthcare of the affected patients

The CYP7A1 gene rs3808607 variant is associated with susceptibility of tuberculosis in Moroccan population

Introduction: Despite the medical progress in treatment. Tuberculosis (TB) continues to be a serious global health problem. A genome-wide linkage study identified a major susceptibility locus on  chromosomal region 8q12-q13 in Moroccan TB patients. The CYP7A1 gene is located in this region and codes for cholesterol 7a-hydroxylase, an enzyme involved in cholesterol catabolism. Methods: We selected three SNPs (rs3808607, rs8192875 and rs8192879) and studied their genotype and allele frequencies distribution in patients with pulmonary (PTB) or pleural TB (pTB), and compared them to Healthy Controls (HC). Genotyping of rs8192875 and rs8192879 SNPs was carried out using the Taq Man SNP genotyping Assay while rs3808607 was investigated by PCR-RFLP.Results: We reported here for the first time a statistically significant increase in the AA homozygote genotype frequency of rs3808607 in PTB patients compared to HC (p = 0.02, OR = 1.93, 95% CI: 1.93 (1.07;3.49). The increased risk of developing TB was maintained when we combined the groups of patients (PTB-pTB) (p = 0.01, OR= 1.91, 95% CI = (1.07 - 3.42). In contrast, no genetic association was observed between the rs8192875 or rs8192879 polymorphisms and TB. Conclusion: Our investigations suggest that rs3808607 may play a role in susceptibility to TB in a Moroccan population.Key words: Tuberculosis, cholesterol 7-alpha-hydroxylase, polymorphisms, SNPs, cholestero

Development of Bioinformatics Infrastructure for Genomics Research:

Although pockets of bioinformatics excellence have developed in Africa, generally, large-scale genomic data analysis has been limited by the availability of expertise and infrastructure. H3ABioNet, a pan-African bioinformatics network, was established to build capacity specifically to enable H3Africa (Human Heredity and Health in Africa) researchers to analyze their data in Africa. Since the inception of the H3Africa initiative, H3ABioNet's role has evolved in response to changing needs from the consortium and the African bioinformatics community

HLA alleles associated with COVID-19 susceptibility and severity in different populations: a systematic review

Abstract Background COVID-19 is a respiratory disease caused by a novel coronavirus called as Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). Detected for the first time in December 2019 in Wuhan and it has quickly spread all over the world in a couple of months and becoming a world pandemic. Symptoms of the disease and clinical outcomes are very different in infected people. These differences highlight the paramount need to study and understand the human genetic variation that occurring viral infections. Human leukocyte antigen (HLA) is an important component of the viral antigen presentation pathway, and it plays an essential role in conferring differential viral susceptibility and severity of diseases. HLA alleles have been involved in the immune response to viral diseases such as SARS-CoV-2. Main body of the abstract Herein, we sought to evaluate this hypothesis by summarizing the association between HLA class I and class II alleles with COVID-19 susceptibility and/or severity reported in previous studies among different populations (Chinese, Italian, Iranian, Japanese, Spanish, etc.). The findings of all selected articles showed that several alleles have been found associated with COVID-19 susceptibility and severity. Even results across articles have been inconsistent and, in some cases, conflicting, highlighting that the association between the HLA system and the COVID‐19 outcome might be ethnic‐dependent, there were some alleles in common between some populations such as HLA-DRB1*15 and HLA-A*30:02. Conclusion These contradictory findings warrant further large, and reproducible studies to decipher any possible genetic predisposition underlying susceptibility to SARS-COV-2 and disease progression and host immune response

New variant identified in major susceptibility locus to tuberculosis on chromosomal region 8q12-q13 in Moroccan population: a case control study

Abstract Background Tuberculosis (TB) remains a global health problem. Several studies have implicated genetic host factors in predisposing populations to TB disease. In this study, we have selected NSMAF (Neutral Sphingomyelinase Activation Associated Factor) as a candidate gene to evaluate its level of association with TB disease in a Moroccan population for two reasons: first, this gene is located in a major susceptibility locus on chromosomal region 8q12-q13 in the Moroccan population, closely linked to the CYP7A1 gene, which was previously shown to be associated with TB disease; second, NSMAF has an important role in immune system function. Methods We conducted a case-control study including 269 genomic DNA samples extracted from pulmonary TB (PTB) patients and healthy controls (HC). We genotyped three selected SNPs (rs2228505, rs36067275 and rs10505004) using TaqMan® allelic discrimination assays. Results Only the rs1050504 C > T genotype was observed to be significantly associated with an increased risk for developing pulmonary TB (41.8% vs 27%, OR 1.95, 95% CI 1.16–3.27; p = 0.01). In contrast, the TT genotype was significantly associated with resistance to PTB (4.1% vs 15.6%, OR 0.23, 95% CI 0.08–0.63; p = 0.002). Conclusion Our findings suggest that genetic variations in the NSMAF gene could modulate the risk of PTB development in a Moroccan population. Further functional studies are needed to confirm these findings

The biological response of mesenchymal stromal cells to thymol and carvacrol in comparison to their essential oil: An innovative new study.

Mesenchymal stromal cells (MSCs) represent a progenitor cell population with several biological properties. MSCs are thus of therapeutic interest for cell-based therapy but great efforts are needed to enhance their efficiency and safety. Herbal remedies and in particular their bioactive molecules, are potential candidates for improving human health. The novelty and originality of this study is to develop an efficient cell-therapeutic product by combining MSCs with medicinal plant derived bioactive molecules. Thus, the impact of Essential Oil, Thymol and Carvacrol from Ptychotis verticillata on several BM-MSC biological features were studied. These compounds have shown positive effects on MSCs by preserving their morphology, sustaining their viability, promoting their proliferation, protecting them from cytotoxicity and oxidative stress. Accordingly, the combined administration of P. verticillata extract and MSCs may represent a new approach to enhance the therapeutic issue. Further investigations should greatly improve the manufacturing of these compounds as well as our understanding of the therapeutic effects of these bioactive molecules on the biology and functions of MSCs.info:eu-repo/semantics/publishe

COMPARISON OF A DNA BASED PCR APPROACH WITH CONVENTIONAL METHODS FOR THE DETECTION OF MYCOBACTERIUM TUBERCULOSIS IN MOROCCO

<p><strong>Background:</strong> Worldwide, tuberculosis (TB) is a major public health problem and the rapid diagnosis and appropriate chemotherapy become the first priority and a serious challenge to improve TB treatment.</p><p>In the objective of early TB diagnosis and rapid detection of <em>Mycobacterium tuberculosis </em>(MTB) in the clinical specimens, the utility of the Polymerase Chain Reaction (PCR) using the Insertion Sequence 6110 (IS6110) as target was compared to conventional methods.</p><p><strong>Methods:</strong> Out of 305 patients with different clinical manifestations: suspected, new, drug relapse, drug failure and chronic cases were enrolled in this study and tested by mycobacteriological and PCR techniques for the investigation about the tubercle bacilli.</p><p><strong>Results:</strong> The results of the in house IS6110 PCR showed a good sensitivity (92, 42%) and high specificity (98%), the positive and negative predictive values were 96.4 % and 95.3 % respectively.</p><p><strong>Conclusion:</strong> This study showed clearly that the PCR testing using the IS6110 in the routine analysis is a potential tool for the rapid TB diagnosis, especially for critical cases and would be of great interest to help the clinician in the misdiagnosed critical cases by the traditional radiology.</p&gt

Bioscreening and pre-clinical evaluation of the impact of bioactive molecules from Ptychotis verticillata on the multilineage potential of mesenchymal stromal cells towards immune- and inflammation-mediated diseases.

peer reviewedOBJECTIVE AND DESIGN: Mesenchymal stromal cells (MSCs) are currently used in cell reparative medicine due to their trophic and ant-inflammatory properties. The modulation of stem cell properties by phytochemicals has been suggested as a tool to empower their tissue repair capacity. In vitro, MSCs are characterized by their tri-lineage potential that holds great interest for tissue regeneration. Ptychotis Verticillata (PV), an aromatic and medicinal plant, may be thus used to modulate the in vitro multilineage potential of MSCs. MATERIALS AND METHODS: We screened the impact of PV-derived essential oil and their bioactive molecules (thymol and carvacrol) on the in vitro multilineage potential of MSCs. Different concentrations and incubation times of these compounds were assessed during the osteogenesis and adipogenesis of MSCs. RESULTS: The analysis of 75 conditions indicates that these compounds are biologically active by promoting two major differentiation lineages from MSCs. In a time- and dose-dependent manner, thymol and carvacrol increased the osteogenesis and adipogenesis. CONCLUSION: According to these preliminary observations, the addition of PV extract may stimulate the tissue regenerative and repair functions of MSCs. Further optimization of compound extraction and characterization from PV as well as cell treatment conditions should increase their therapeutic value in combination with MSCs