Assisted reproductive technology (ART) is a broad field in infertility that encompasses different types of treatments. These revolutionary treatment methods aimed to aid infertile or subfertile couples. Treatment was expanded exponentially, as 1 to 3% of the births worldwide takes place with ART procedures. However, treatment is not flawless. Gametes and embryos are exposed to different chemicals and stress through treatment, which leads to disturbance in proper embryo development and results in prenatal and congenital anomalies. When compared with in-vivo development of gametes and preimplantation embryos in mice, in-vitro conditions during ART treatments have been suggested to disturb the gene expression levels, especially imprinted genes. Therefore, ART has been suggested to be associated with increased incidences of different imprinting disorders such as Beckwith-Wiedemann syndrome, Angelman syndrome, and Silver-Russell syndrome, as proved by different case reports and studies. This literature review aims to explain the association of imprinting disorders with this revolutionary treatment procedure.
The novel coronavirus disease 2019 (COVID-19) belongs to coronaviridae families like sarbecovirus (SARS), and causes pyrexia, pertussis, and acute respiratory distress syndrome (ARDS) in major. Started from Wuhan, China, COVID-19 now forced the World Health Organization (WHO) call it a global pandemic. These dreadful figures elevate the need for rapid action for a rapid diagnostic tool, an efficacious therapy, or vaccine for such widespread disease. In this article, we reviewed all the latest research and trials including conventional antiviral medicines that have a narrow and finite effect on COVID-19. Recently, some advances were made by a nucleotide/nucleoside analogues (NUC) inhibitor (remdesivir), ivermectin (antiparasitic drug), and convalescent plasma; the later one has more recently been approved by the Food and Drug Administration (FDA). Additionally, a clinical-grade soluble human angiotensin-converting enzyme (ACE2), named hrsACE2, was able to inhibit the infection of human blood vessel organoids, as well as the human kidney organoids, by the virus. As of now, innovative therapeutics based on the CRISPR/Cas13d might overcome the challenge of COVID-19 either as a treatment option or precise and rapid diagnostic tool due to its rapid and precise nature. In this updated comprehensive rapid review, we tried to cover all recent findings in terms of genomics, diagnosis, prevention, and treatment.
Background Type 1 diabetes mellitus (T1DM) is an organ-specific T cell-mediated autoimmune disease, characterized by destruction of pancreatic islets. Cytotoxic lymphocyte antigen-4 (CTLA-4) is a negative regulator of T cell proliferation, thus conferring susceptibility to autoimmunity.
Aims This study aimed to investigate the association of CTLA-4 +49A/G (rs231775) polymorphism with a risk of T1DM in Sudanese children.
Methods This a case-control study included 100 children with T1DM, referred to the pediatric clinic at referral pediatric teaching hospital in Gezira State-Sudan. Hundred unrelated healthy controls were recruited from departments in the same hospital. Genomic deoxyribonucleic acid (DNA) was extracted from Ethylenediaminetetraacetic Acid (EDTA)-preserved blood using QIAamp DNA Blood Mini Kit (QIAamp Blood) (QIAGEN; Valencia, CA). The polymerase chain reaction PCR restriction fragment length polymorphism (PCR-RFLP) and sequencing were applied for the CTLA-4 (+49A/G) genotyping. The changes accompanied the polymorphism were evaluated using relevant bioinformatics tools.
Results The genotype and allele frequencies of the CTLA-4 (+49A/G) polymorphism were significantly different between the patients and controls (p = 0.00013 and 0.0002, respectively). In particular, the frequency of the G allele, GG homozygous genotype, and AG heterozygous genotype were significantly increased in patients than in controls ([28% versus 7%, odds ratio (OR) = 5.16, 95% confidence interval [CI] = 2.77-9.65, p = 0.00] [12% versus 2%, OR = 6.68, CI = 1.46-30.69, p = 0.01] [32% versus 10%, OR = 4.24, CI = 1.95-9.21, p = 0.00], respectively). The presence of the G allele (homozygous) showed an influence on the signal peptide polarity, hydrophobicity, and α-helix propensity of the CTLA-protein.
Conclusion The results further support the association of CTLA-4 (+49A/G) polymorphism and the risk of T1DM in our study population.
Objectives While DNA profiling has become the principal technique for individualization of biological evidences, ABO blood grouping is still a useful test method in the initial stages of crime investigation. Objectives of the study were blood group determination using slide agglutination method, blood group determination from saliva using absorption inhibition method, and comparison of slide agglutination method with that of absorption inhibition method from saliva sample.
Materials and Methods A total of 60 subjects were taken randomly with their age ranging from 20 to 60 years. Sixty subjects were divided in to two groups, study group and control group. 5 to 10 mL of unstimulated saliva was collected from 60 patients and Wieners agglutination test was performed to detect the secretor status of blood using absorption inhibition method and compared with that of slide agglutination method
Results Out of 60 subjects, 52 subjects showed secretors of antigen in saliva with percentage value of 86.66% and eight subjects were nonsecretors (13.33%). Slightly higher percentage of secretor status was seen in males 84.6 and 88.2% in females.
Conclusion Evaluation of secretor status of blood group antigen from saliva using absorption inhibition method can be useful method in identification of medicolegal cases.
Background Cleft lip palate (CLP) is a common congenital anomaly with multifactorial etiology. Many polymorphisms at different loci on multiple chromosomes were reported to be involved in its etiology. Genetic research on a single multigenerational American family reported 18q21.1 locus as a high-risk locus for nonsyndromic CLP (NSCLP). However, its association in multiple multiplex families and Indian population is not analyzed for its association in NSCLP.
Aim This study was aimed to evaluate whether high-risk single nucleotide polymorphisms (SNPs) on chromosome 18q21.1 are involved in the etiology of NSCLP in multiplex Indian families.
Materials and Methods Twenty multigenerational families affected by NSCLP were selected for the study after following inclusion and exclusion criteria. Genomic DNA was isolated from the affected and unaffected members of these 20 multiplex families and sent for genetic analysis. High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 candidate genes on the 18q21.1 locus, were analyzed. SNP genotyping was done using the MassARRAY method. Statistical analysis of the genomic data was done by PLINK.
Results Polymorphisms followed the Hardy-Weinberg equilibrium. In the allelic association, all the polymorphisms had a p-value more than 0.05. The odds ratio was not more than 1.6 for all the SNP.
Conclusion High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 in the locus 18q21.1, are not associated with NSCLP in Indian multiplex families.
Recently, it was found that proteomes from poliovirus, measles virus, dengue virus, and severe acute respiratory syndrome-related Coronavirus 2 (SARS-CoV-2) have high molecular mimicry at the heptapeptide level with the human proteome, while heptapeptide commonality is minimal or absent with proteomes from nonhuman primates, that is, gorilla, chimpanzee, and rhesus macaque. To acquire more data on the issue, analyses here have been expanded to Ebola virus, Francisella tularensis, human immunodeficiency virus-1 (HIV-1), Toxoplasma gondii, Variola virus, and Yersinia pestis. Results confirm that heptapeptide overlap is high between pathogens and Homo sapiens, but not between pathogens and primates. Data are discussed in light of the possible genetic bases that differently model primate phenomes, thus possibly underlying the zero/low level of molecular mimicry between infectious agents and primates. Notably, this study might help address preclinical vaccine tests that currently utilize primates as animal models, since autoimmune cross-reactions and the consequent adverse events cannot occur in absentia of shared sequences.