Genetic study of sex inversion in humans

Sex reversal is considered to be a form of disorders of sex development or DSD (disorders/Differences of sex development). This is an inconsistency between gonadal, phenotypic and chromosomal sex. Sexual development, including the development of gonads and organs reproduction and the acquisition of secondary sexual characteristics, is under genetic control. Indeed, following the bibliographic study carried out in this report, we were able to better understand the pathophysiology of sex reversal, enumerate the associated genetic mutations and identify the signaling pathways affected. In addition, a retrospective study was performed to determine the frequency of sex reversal compared to other categories of DSD. This work focused on a sample of 981 patients with clinical signs indicating the presence of DSD. These patients presented to the Cytogenetics laboratory of the Institut Pasteur in Morocco between the years 2011 and 2021. The karyotype was performed on a heparinized tube according to the standard method. Based on the karyotype results, we found 74 cases of sex inversion corresponding to 7.54%. Abnormal karyotypes accounted for 37.31% with a predominance of Turner syndrome (41.53%), 26.23% of Klinefelter syndrome, 12.3% of patients presented with XY female type sex inversion, 7.92% with sex reversal type XX men and 7.65% had mixed gonadal dysgenesis. Finally, to guide the diagnosis, we established a course of action indicating the genes which are the most incriminated in the two types of sex inversion

Identification of sources of resistance to scald (Rhynchosporium commune) and of related genomic regions using genome-wide association in a mapping panel of spring barley

Barley is an important crop worldwide known for its adaptation to harsh environments and used in multiple forms as feed, food and beverages. Its productivity is affected by major abiotic and biotic stresses. Scald caused by hemibiotrophic fungus Rhynchosporium commune is a major foliar disease in many parts of the world. Host plant resistance is targeted by breeders to efficiently control this disease. An association mapping panel of 316 spring barley genotypes (AM2017) was screened for seedling resistance in greenhouse against three R. commune isolates and for adult plant resistance in three field locations in Morocco. The phenotyping results showed different numbers of entries with resistant and moderately resistant reactions at both seedling and adult plant stages. The reactions differed between the isolates with the highest percentage of resistant genotypes observed for isolate SC-S611 (49.4%) and highest percentage of susceptible genotypes (73.8%) for isolate SC-1122. At adult plant stage, the highest percentage of scald resistant genotypes (64.5%) was observed at Rommani site compared to 56% at Guich site and only 28.8% at Marchouch site. Seven genotypes were resistant at the seedling and adult plant stages. Genome wide association study (GWAS) revealed 102 MTA (15 QTL) at the seedling stage, and 25 MTA (12 QTL) associated with scald resistance at the adult plant stage. In addition, the sequences of 92 out of 102 at SRT, and 24 out of 25 significant SNP markers at APR were located in genomic regions enriched with functional proteins involved in diverse cellular processes including disease resistance. These markers span over all chromosomes with the majority of SNPs located on 3H and 7H. This study has verified 18 QTL reported in previous studies. In addition, it was successful in identifying new sources of resistance and novel genomic regions which could help in enhancing scald resistance in barley breeding programs

IMPACT OF SAMPLE STORAGE CONDITIONS ON FORENSIC TOXICOLOGY ANALYSIS – A REVIEW

In forensic toxicology, the preservation of matrices is a crucial stage in the analysis that affects the accuracy and reliability of the findings. To reduce interference and improve the findings’ interpretation, specimens should be maintained in the right environment. For analytical objectives in forensic toxicology, we aim to characterize the modalities of preservation of the distinct matrices for each incriminated toxin. A comprehensive literature search in both English and French languages was conducted using the keywords "forensic samples preservation" to find pertinent papers in the PubMed and ScienceDirect databases. The results were then carefully examined. The preservation method based on the biological matrix and the required harmful substances was the major focus of the investigation. This bibliographic research’s objective is to understand the sample preservation methods used in diverse studies as well as each method’s limitations in light of the biological matrix and xenobiotics being investigated. The mode and duration of conservation depend closely on the matrix and the toxins to be sought. Certain hazardous compounds' chemical stability in biological matrices is influenced by storage conditions compliance. Therefore, it is apparent that forensic scientists would benefit from knowledge of the sampling and storage procedures for substances suspected of posing a threat.                         Peer Review History: Received: 17 December 2022; Revised: 9 February 2023; Accepted: 5 March, Available online: 15 March 2023 Academic Editor: Dr. Marwa A. A. Fayed, University of Sadat City, Egypt, [email protected] Received file:                             Reviewer's Comments: Average Peer review marks at initial stage: 6.0/10 Average Peer review marks at publication stage: 7.0/10 Reviewers: Dr. Sally A. El-Zahaby, Department of Pharmaceutics and Industrial Pharmacy, Faculty of Pharmacy, King Salman International University, Egypt, [email protected] Dr. Nuray Arı, Ankara University, Turkiye, [email protected] Dr. Bilge Ahsen KARA, Ankara Gazi Mustafa Kemal Hospital, Turkey, [email protected] Similar Articles: STORAGE EFFECT ON THE GC-MS PROFILING AND ANTIOXIDANT ACTIVITIES OF ESSENTIAL OILS FROM LEAVES OF ANNONA SQUAMOSA L

In silico Study of Pharmacological Treatments against SARS-CoV2 Main Protease

The COVID-19 caused by a new type of coronavirus has emerged from China and led to thousands of death globally. Despite the efforts engaged in studying this newly emerged virus and searching for its treatment, the understanding of the COVID-19 drug and target protein interactions still represent a key challenge. Several molecules have demonstrated In-Vitro activity against the SARS-CoV-2 virus and/ or potential clinical benefit in observational and non-randomized studies. Randomized clinical trials of an appropriate size are currently ongoing to establish the efficacy of these therapeutic proposals. Herein, concerning these diverse guidelines and therapeutic suggestions of different approaches to the treatment, this research aims to provide a molecular analysis of the interaction between the principal molecules cited in bibliography and the active protease site of the virus

Le médicament générique au Maroc : enquête auprès des médecins

Objectifs. Évaluer les connaissances des médecins sur les médicaments génériques et leurs habitudes de prescription, en vue de faire des propositions permettant de développer l’utilisation du médicament générique au Maroc. Méthodes. Il s’agit d une étude prospective réalisée auprès de 100 médecins exerçant dans différents secteurs, au moyen d’un questionnaire comprenant 14 questions. Les points abordés dans ce questionnaire portaient sur l’évaluation des connaissances des médecins concernant les médicaments génériques, leurs habitudes de prescription en matière de médicaments génériques et leur point de vue vis-à-vis du droit de substitution. Résultats. La prescription des médicaments génériques représente plus de 20 % des prescriptions médicamenteuses chez moins de la moitié des médecins. Pour 68 % des médecins, un générique n’est pas toujours efficace. Lors de la définition d’un médicament générique seulement 66 % des médecins ont mentionné la bioéquivalence avec la molécule mère, et lors de la définition de la bioéquivalence pour presque la moitié (51 %) des médecins, un médicament générique bioéquivalent à la molécule mère est un médicament ayant le même temps de demi-vie. Quatre-vingt-huit pour cent (88 %) des médecins prescrivent les génériques quand le moindre coût est respecté. Soixante-dix pour cent des médecins (70 %) prescrivent les génériques quand la bioéquivalence est démontrée avec la molécule mère. Soixante-huit pour cent (68 %) des médecins sont contre la substitution parce qu’elle présente une entrave à leur liberté de prescription. Conclusion. En vue d’augmenter l’utilisation des génériques, une meilleure information des médecins s’avère nécessaire. D’autres moyens peuvent être mis en œuvre, d’abord asseoir la qualité du générique marocain par des études de bioéquivalence et réfléchir aux mesures à mettre en place pour encourager les médecins et les pharmaciens à prescrire et dispenser les médicaments génériques, en particulier le droit de substitution

Y a-t-il intérêt à doser les métabolites de l’azathioprine chez les malades ayant une maladie inflammatoire chronique de l’intestin ?

Objectif. Chercher s’il y a une relation entre les concentrations de 6-thioguanine nucléotide et des 6-méthyl mercaptopurine et l’efficacité clinique et les effets indésirables à travers une population de patients atteints de maladie inflammatoire chronique de l’intestin. Méthodes. Nous incluons des patients atteins de la maladie de Crohn ou de rectocolite hémorragique (RCH) traités par l’azathioprine pendant une durée minimale de 12 mois. Pour chaque patient, un dosage des métabolites a été réalisé. Résultats. Nous avons inclus 43 patients atteints de maladie de Crohn et 7 de RCH. L’azathioprine a été indiquée pour une cortico-dépendance dans 23 cas, pour prévenir les récidives post-opératoires dans 10 cas, pour maintenir une rémission clinique obtenue par un traitement médical chez 17 patients. Conclusion. Notre travail confirme la relation entre la concentration de la 6TGN et la survenue d’une myélo-toxicité

Alternatives Therapeutic Approaches to Conventional Antibiotics: Advantages, Limitations and Potential Application in Medicine

Resistance to antimicrobials and particularly multidrug resistance is one of the greatest challenges in the health system nowadays. The continual increase in the rates of antimicrobial resistance worldwide boosted by the ongoing COVID-19 pandemic poses a major public health threat. Different approaches have been employed to minimize the effect of resistance and control this threat, but the question still lingers as to their safety and efficiency. In this context, new anti-infectious approaches against multidrug resistance are being examined. Use of new antibiotics and their combination with new β-lactamase inhibitors, phage therapy, antimicrobial peptides, nanoparticles, and antisense antimicrobial therapeutics are considered as one such promising approach for overcoming bacterial resistance. In this review, we provide insights into these emerging alternative therapies that are currently being evaluated and which may be developed in the future to break the progression of antimicrobial resistance. We focus on their advantages and limitations and potential application in medicine. We further highlight the importance of the combination therapy approach, wherein two or more therapies are used in combination in order to more effectively combat infectious disease and increasing access to quality healthcare. These advances could give an alternate solution to overcome antimicrobial drug resistance. We eventually hope to provide useful information for clinicians who are seeking solutions to the problems caused by antimicrobial resistance

Association between CTLA-4 Gene Promoter (49 A/G) in Exon 1 Polymorphisms and Inflammatory Bowel Disease in the Tunisian Population

<b>Background/Aim:</b> To investigate the possible association between the polymorphism of the <i> CTLA-4 </i> exon 1 &#x002B;49 A/G and susceptibility to Crohn&#x2032;s disease (CD) and ulcerative colitis (UC) in the Tunisian population. <b> Methods:</b> The &#x002B;49 A/G dimorphism was analyzed in 119 patients with CD, 65 patients with UC, and 100 controls by the polymerase chain reaction-restriction fragment length polymorphism method. <b> Results:</b> Significantly higher frequencies of the <i> CTLA-4 </i> &#x002B;49A allele and A/A homozygous individuals were observed in patients with CD when compared with controls (pc = 0.0023 and pc = 0.0003, respectively). Analysis of <i> CTLA-4</i> A/G polymorphism with respect to sex in CD showed a significant difference in A/A genotypes between female patients and controls (pc = 0.0001 and pc = 0.038, respectively). There were no differences in the subgroups of patients with CD. <b> Conclusions:</b> Forty-nine A alleles and AA genotype are associated with CD susceptibility in Tunisians. Other genes involved in the T-cell regulation remain strong candidates for IBD susceptibility and require further investigation