International Journal of Molecular Epidemiology and Genetics

OBJECTIVE: In recent years, Acinetobacter baumannii has been appearing in hospitals with high drug resistance and strong vitality, which brings many difficulties to clinical treatment. In this study, 255 strains of A. baumannii were isolated from Youjiang Medical University for Nationalities Affiliated Hospital clinical samples and found to be highly resistant to carbapenems. The drug resistance, biofilm-forming ability, and carbapenase gene distribution of 145 carbapenem-resistant A...

Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a rare neurodevelopmental disorder. MRXST is caused by pathogenic variants in the HUWE1 gene on chromosome Xp11.22. The HUWE1 gene encodes a ubiquitin ligase, which has downstream effects on the n-MYC protein and DLL3 Notch ligand, ultimately affecting neuronal differentiation. In addition to intellectual disability and developmental delay, other clinical features such as absent or delayed speech, skeletal abnormalities, abnormalities in hands or feet, seizures, and hypotonia have been described in case reports...

OBJECTIVE: The aim of this study was to identify the potential risk factors and genetic variants associated with dental caries incidence using survival analysis. METHODS: The Center for Oral Health Research in Appalachia recruited and prospectively followed pregnant women and their children. A total of 909 children followed from birth for up to 7 years were included in this study. Annual intra-oral examinations were performed to assess dental caries experience including the approximate time to first caries incidence in the primary dentition...

PURPOSE: Childhood cataracts and strabismus are among the most common causes of visual impairment in children worldwide, and prompt diagnosis and correction can significantly reduce disease burden. In certain regions, including the Eastern Caribbean, access to adequate treatment can be limited and epidemiological data scarce. This study aims to analyze the epidemiological data of pediatric strabismus and cataract cases in St. Vincent and the Grenadines. METHODS: The setting of the study is a clinical practice including 201 patients between the age of 0 to 19 who received care with World Pediatric Project (WPP)...

INTRODUCTION: miR-132-3p acts in normal breast development and its downregulation has been documented in breast cancer. One of the targets of miR-132-3p is RB1 which is also inactivated in breast cancer. The interactions between RB1 and miR-132 have been reported in several pathological conditions. We aimed to investigate the correlation between expression levels of miR-132 and RB1 in ductal carcinoma of the breast. METHODS: The study was carried out on tissues obtained from female patients with primary breast cancer...

Genetics is responsible for 80% of androgenetic alopecia (AGA) predisposition. Several single nucleotide polymorphisms (SNPs) have been linked to AGA risk and the metabolism of its first-line therapies. Genotypic and allelic frequencies have not been described in Mexican individuals; therefore, the aim of this study was to describe the genetic distribution of SNPs associated with AGA predisposition and drug metabolism. Using Real Time-PCR, we genotyped SNPs rs4827528 ( AR ), rs7680591 ( FGF 5), rs1042028, rs1042157, rs788068 and rs6839 ( SULT 1 A 1) and rs776746 ( CYP 3 A 5) in 125 (controls = 60, cases = 65) male volunteers from Northern and Western Mexico...

The Alternaria genus has pathogenic, endophytic, and saprobic characteristics. Alternaria genus causes respiratory diseases, fungal allergenicity and the production of mycotoxin in food. Ahvaz city is one of the areas where the presence of dust and high humidity cause the growth and spread of fungal species in the air. Identification of Alternaria species is difficult based on morphology solely. For the first time in Ahvaz, the classification of this fungus was performed using ITS region, alta1 gene, and morphology...

Nabais Sa-de Vries syndrome (NSDVS) is a neurodevelopmental disorder first described in 2020. The syndrome is caused by de novo missense mutations in speckle-type pox virus and zinc finger protein ( SPOP ) on chromosome 17q21. The syndrome is divided into two forms (NSDVS Type 1 and NSDVS Type 2) based on the consequence of the mutation involved. In this report, we present the clinical features in a young male patient with suspected NSDVS1 and summarize the features of the reported affected individuals thus far, with a focus on the ophthalmic manifestations...

Some blood group antigens are reported as a susceptibility marker for some diseases. For instance, HBGA (Histo-blood group antigen) which is controlled by gene FUT2 also considered as a susceptible marker. The FUT2 gene which exhibits the expression of alpha-1, 2-L-fucosyltransferase enzyme also leads to HBGA expression for the gut, and it provides a composition of the phenotypical profile that exists in some populations with unique histories of evolution and it can be considered as a marker of the genetic population...

The NSUN2 -intellectual disability syndrome is a rare disorder of the cellular transcriptome that prevents proper t-RNA splicing. This disorder interrupts cellular function and leads to an accumulation of RNA fragments, producing a constellation of symptoms including dysmorphic facies, hypotonia, microcephaly, and short stature. Eye manifestations have been reported but not well characterized. Our study presents a new case involving a 4-year-old boy with novel NSUN2 variants and clinical features consistent with the syndrome...

Dengue is an important vector borne viral infection. At present, it is endemic in many tropical countries. A molecular epidemiology of viral type in patients and mosquitoes can give useful epidemiology data for disease control. In Indochina, dengue is very common and the molecular epidemiology surveillance is continuously performed. Here, the authors reappraise on available local data from epidemiology studies of viral type in patients and mosquitoes in an endemic area of dengue in Indochina. According to analysis, the authors found that a considerable number of dengue patients do not have the same viral type with caught mosquito vector at their home...

The outbreak of COVID-19 disease is an international public health concern. Therefore, the analysis of information related to mortality and disability due to COVID-19 is considered important, so the present study was designed and conducted with the aim of assessing COVID-19 Disability-Adjusted Life Years (DALYs) in Yazd. In Yazd province, all suspected cases of COVID-19 that would be referred to central hospitals in order to get confirmed through PCR or CT scan test, were recruited to our study. The fatality data of COVID-19 was gathered from the forensic medicine organization...

INTRODUCTION: Activating mutations in the BRAF gene have been reported in 0.8%-8% cases of NSCLC. Traditionally, diagnostics have mainly focused on detection of V600E and modalities like mutation specific IHC, allele specific real-time PCR have been utilized. This may underestimate true prevalence of the non-V600E variants. Broader panel NGS testing offers a one stop solution and may identify newer potentially targetable variants. This is a retrospective single center experience of patients with BRAF mutated NSCLC characterizing the molecular spectrum and clinicopathologic characteristics...

BACKGROUND: The occurrence of chromosomal diseases is a worldwide health problem. The use of agrochemicals, urbanization processes, and solar radiation can be predictive factors of the elevated risk of congenital malformations. In this sense, predicting the geographical potential of the distribution of chromosomal diseases has high relevance for public health. OBJECTIVES: This study aimed to describe chromosomal prevalence in Brazil regions, from 2005 to 2015, to model a potential distribution of chromosomal disease occurrence probability associated with land use...

BACKGROUND: Hypertension has been continuing to be a major contributor to the global burden of disease and to the global mortality, leading to over 10 million deaths each year. The purpose of this study was to investigate the association between Adiponectin gene polymorphism with Essential hypertension (EH). METHODS: PubMed, EMbase, the Cochrane Library, and China National Knowledge Infrastructure (CNKI) were searched independently by two investigators. Pooled odds ratios and 95% confidence intervals were calculated to estimate the associations of Adiponectin polymorphism with EH...

Malignant melanoma is one of the most highly ranked cancers in terms of years of life lost. Hereditary melanoma with its increased familial susceptibility is thought to affect up to 12% of all melanoma patients. In the past, only a few high-penetrance genes associated with familial melanoma, such as CDKN2A and CDK4 , have been clinically tested. However, findings now indicate that melanoma is a cancer most likely to develop not only due to high-penetrance variants but also due to polygenic inheritance patterns, leaving no clear division between the hereditary and sporadic development of malignant melanoma...

Oral submucous Fibrosis (OSMF) is a chronic disease that mainly affects the upper part of the aerodigestive tract. Areca nut and betel quid chewing has been established as the most significant causative factor for this condition. While OSMF is a predominantly Asian disease, the migrant populations from the region have taken the disease across the globe. Additionally, areca nut is now easily accessible in flavors and aggressively marketed. Many research activities have been undertaken for decades to understand the etiopathogenesis and risk factors of OSMF...

The COVID-19 pandemic has revealed the susceptibility of certain populations to RNA virus infection. This variety of agents is currently the cause of severe respiratory diseases (SARS-CoV2 and Influenza), Hepatitis C, measles and of high prevalence tropical diseases that are detected throughout the year (Dengue and Zika). The rs10774671 polymorphism is a base change from G to A in the last nucleotide of intron-5 of the OAS1 gene. This change modifies a splicing site and generates isoforms of the OAS1 protein with a higher molecular weight and a demonstrated lower enzymatic activity...

BACKGROUND: Arterial hypertension (AH) is implicated in vascular health and contributes significantly to cardiovascular morbidity and mortality. In addition to the contribution of usual risk factors for AH, elucidating the influence of genetic factors is a promising area of investigation. Therefore, we evaluated the association between AH and cardiovascular risk factors (CVRFs) and genetic polymorphisms in communities in Southeast Brazil. METHODS: A total of 515 adults aged 18-91 years, who were cross-sectionally assessed between 2015-2016, were included...

This study was performed to investigate published literature about the association between measles, mumps, and rubella (MMR) vaccine and COVID-19. This is a systematic review in which the databases of Chocrane, Pubmed, Scopus, Web of Science as well as reliable journals including Lancet, New England Journal of Medicine, Jama and also Centers for Disease Control and Prevention (CDC) publications were searched.Out of 169 documents discovered during the literature review, 56 ones were somehow related to the association between MMR vaccine and COVID-19, of which 11 ones mentioned the association between these two, and 8 of them contained a hypothesis about this relationship...