ABSTRACT
Objectives: Intellectual disability (ID) represents a significant health challenge due to its diverse and intricate nature. A multitude of genes play a role in brain development and function, with defects in these genes potentially leading to ID. Considering that many of these genes have yet to be identified, and those identified have only been found in a small number of patients, no complete description of the phenotype created by these genes is available. CC2D1A is one of the genes whose loss-of-function mutation leads to a rare form of non-syndromic ID-3(OMIM*610055), and four pathogenic variants have been reported in this gene so far. Materials & Methods: n the current study, two affected females were included with an initial diagnosis of ID who were from an Iranian family with consanguineous marriage. Whole-exome sequencing was used to identify the probable genetic defects. The Genotypic and phenotypic characteristics of the patients were compared with a mutation in the CC2D1A gene, and then the structure of the gene and its reported variants were investigated. Results: The patients carried a novel homozygous splicing variant (NM_017721, c.1641+1G>A) in intron 14, which is pathogenic according to the ACMG guideline. Loss-of-function mutations in CC2D1A have severe phenotypic consequences such as ID, autism spectrum disorder (ASD), and seizures. However, missense mutations lead to ASD with or without ID, and in some patients, they cause ciliopathy. Conclusion: This study reports the fifth novel, probably pathogenic variant in the CC2D1A gene. Comparing the clinical and molecular genetic features of the patients with loss-of-function mutation helped to describe the phenotype caused by this gene more precisely. Investigating the CC2D1A gene's mutations and structure revealed that it performs multiple functions. The DM14 domain appears more pivotal in triggering severe clinical symptoms, including ID, than the C2 domain.
ABSTRACT
Parasitic infections are the most common diseases worldwide, and enterobiasis is a common parasitic infection in children. Various studies have reported on the prevalence of Enterobius vermicularis in different regions of the world. However, no study has gathered and analyzed this data systematically. Our systematic review and meta-analysis investigated the overall prevalence of E. vermicularis among children globally. Data were extracted from 4 available databases for studies published from January 2002 to April 2022. The quality of the included studies was scored based on the standard Strengthening the Reporting of Observational Studies in Epidemiology. A random-effect model was chosen to calculate the pooled prevalence and corresponding 95% confidence interval (CI) according to the degree of heterogeneity in the included studies. Thus, 40 publications (42 data sets) that included 3,279 children with enterobiasis met all criteria and were included in the analysis. The meta-analysis showed that heterogeneity among the included studies was high (Q=4,399.35, I2=99.96%; df=41; p<0.001). The pooled global prevalence of enterobiasis among the studied children was 12.9% (95% CI, 8.2%-17.7%). Our systematic review and meta-analysis estimated that, for the past 20 years, 12.9% of children around the world have been infected with E. vermicularis.
ABSTRACT
Saccharomyces cerevisiae var. boulardii has been used as a probiotic yeast in the medical and food industries. Colon cancers have been known as the third most common cancer type worldwide. Nowadays, cell-free extract and metabolites of probiotics have been employed for the treatment or prevention of different cancer diseases. This study investigates the anticancer properties of S. boulardii metabolites against human colon carcinoma. We evaluated cytotoxicity, apoptosis induction, and suppression of survivin, IL-8, and NFÆB gene expression effects of SBM against caco-2 cells after 24 and 48 h. IC50 concentrations of SBM were measured at 815 and 1411 µg/mL for 24 and 48 h treatments, respectively. The total proportion of apoptotic caco-2 cells treated with SBM after 24 and 48 h were calculated at 62.23 and 88.7%, respectively. Also, relative expression of survivin, IL-8, and NFÆB genes were significantly suppressed in caco-2 cells treated with SBM after 24 and 48 h. In conclusion, we found that SBM induced apoptosis, inhibited the growth rate, and suppressed the expression of the survivin, IL-8, and NFÆB genes in human colorectal cancer cells and it can be considered as a perspective supplement or drug for the treatment or prevention of colon cancer in humans.
ABSTRACT
BACKGROUND: Intestinal parasites are one of the health challenges in developing countries. Decreasing the prevalence of intestinal parasitic infections (IPIs) is one of the main aims of health services in these countries. This study was designed to determine the current status of IPIs in rural residents of Takestan a town located in North West of Iran. METHODS: A total of 2280 rural residents of Takestan were randomly selected. Data were collected through questionnaire by interviews and laboratory findings obtained by microscopic examination of stool sample including wet smear and formalin ethyl-acetate concentration. A P<0.05 was considered significant, statistically. RESULTS: In total, 8.7% (199/2280) of participants were positive for at least one intestinal parasite. The prevalence of polyparasitism was 0.7% in study population. Hymenolepis nana was the only helminthic infection which was detected (1/2280). Blastocystis, Entamoeba coli, and Giardia lamblia were the most common IPIs with prevalence of 3.6%, 2.9%, and 1.6%, respectively. Statistically, the prevalence of IPIs showed significant differences among villages (P<0.01) and age groups (P<0.001), and also habit of eating raw vegetables (P<0.005), whereas, the difference was insignificant in terms of sex, education level, and occupation. CONCLUSION: The prevalence of IPIs in rural residents of the study area is considerably low and this reduction was very impressive about helminthic infections.
