Prevalence Of Genotypes Research Articles

Human papillomavirus prevalence and genotypes in Gulf Cooperation Council countries: A scoping review 2017-2024.

Cervical cancer remains a global health challenge, claiming the lives of millions annually and having a significant impact on Gulf Cooperation Council (GCC) countries. Human papillomavirus (HPV), the primary causative agent, plays a central role, with regional variations in prevalence.1 The process from HPV infection to neoplastic changes takes 5-25 years to occur, hence, knowing its prevalence in our community is vital.2. PubMed and SCOPUS were searched to identify articles related to cervical and anogenital HPV prevalence and genotypes in Qatar, Kuwait, Bahrain, Oman, the United Arab Emirates (UAE), and the Kingdom of Saudi Arabia (KSA) published between 2017 and 2024. A total of 19 articles were included in this review. Eight studies were from KSA, four were from Kuwait, three were from the UAE, one was from Qatar, Oman, and Bahrain, and one presented data collectively from the KSA, UAE, Qatar, and Bahrain. The prevalence of HPV ranged between 4.7% and 77% in studies from the KSA, between 15% and 54.3% in studies from Kuwait, between 14.7% and 88% in studies from the UAE, was 8.1% and 31.3% in the two studies from Qatar, and was 17.8% and 20% in the studies from Oman and Bahrain, respectively. HPV 16 was the most prevalent high-risk genotype found in studies conducted in the KSA, UAE, Kuwait, and Qatar. In Oman, HPV 82 predominated. In Bahrain, the majority had other non-HPV 16/18/45 genotypes. In the UAE and Kuwait, HPV 11 was the predominant low-risk type, followed by HPV 6. In Qatar, HPV 81 was the most common low-risk type, followed by HPV 11. In Oman, HPV 54 was the most common low-risk type, followed by HPV 42. There are no studies with data on HPV prevalence and genotypes among women who have been vaccinated against HPV in GCC countries.

B-353 High risk HPV genotypes prevalence in Mexico

Abstract Background The greatest risk factor for the development of cervical cancer is infection by human papillomavirus (HPV). To date, more than 200 genotypes have been described, 14 of them considered by the WHO as high risk genotypes (HR) due to their high oncogenic capacity, with special attention given to genotypes 16 and 18. In Mexico, cervical cancer is the third cause of cancer-associated death in women, therefore, the timely detection of HR genotypes in women becomes imperative for the reduction of the burden of this disease. The detection of high-risk HPV genotypes through the PCR molecular test is part of primary cervical cancer screening, however, this practice is not common in Mexico. Here, we analyzed the results of HPV genotyping studies in women attending cervical cancer screening studies at Salud Digna with the objective of determining the prevalence and dsitribution of HR-HPV in Mexico. Methods Retrospective analysis of the results obtained for the detection of HPV in cervical samples from patients who were attended at Salud Digna clinics from june to august 2023. The samples were processed by automated RT-PCR (ROCHE COBAS PRIME-Cobas 6800). The kit used was the COBASHPV which detects the 14 HR genotypes and generates 4 types of results: negative, positive for HPV16, positive for HPV18 and positive for POOL (which includes the remaining 12 genotypes). For the analysis, Mexico was divided into 7 regions which share sociocultural factors (Northwest, North, West, Center, Gulf, South, Southeast). Results The study population was 95,934 patients (mean age of 41y). At the national level, 18.93% (18,159) of patients are positive for HPV POOL, 3.54% (3,399) for HPV 16 and 1.78% (1709) for HPV 18. The regions with the highest positivity are the southeast region for HPV POOL (22.32%), the south region for HPV 16 (3.77%) and HPV 18 (2.44%) while the region with the lowest percentage is the Northwest region (HPV POOL 17.86%, HPV16 3.39%, HPV18 1.57%). The age range with the highest percentage of positivity is 14-29y for HPV POOL, 30-39y for HPV 16, and 30-39y for HPV 18. Conclusions We found that Mexican patients are becoming infected at an early age with the genotypes that are part of the pool, however, we observe a marked trend towards a decrease in cases as the age of the population advances.The regions of the country with a higher percentage of HPV positive patients are the south and the southeast, regions that also concentrate most of the extreme poverty in Mexico. These numbers should be taken with caution given that in absolute values these are also are the regions of the country where the least people go for a cervical cancer screening study, emphasizing the need to promote these studies in these regions. In the case of genotypes with a greater oncogenic capacity, both HPV16 and HPV18 show a greater prevalence in economically productive age ranges. Retrospective studies like provide information that allow governments to generate public policies focused on the most affected regions.

Bivalent norovirus mRNA vaccine elicits cellular and humoral responses protecting human enteroids from GII.4 infection

Nucleoside-modified mRNA-LNP vaccines have revolutionized vaccine development against infectious pathogens due to their ability to elicit potent humoral and cellular immune responses. In this article, we present the results of the first norovirus vaccine candidate employing mRNA-LNP platform technology. The mRNA-LNP bivalent vaccine encoding the major capsid protein VP1 from GI.1 and GII.4 of human norovirus, generated high levels of neutralizing antibodies, robust cellular responses, and effectively protected human enteroids from infection by the most prevalent genotype (GII.4). These results serve as a proof of concept, demonstrating that a modified-nucleoside mRNA-LNP vaccine based on norovirus VP1 sequences can stimulate an immunogenic response in vivo and generates neutralizing antibodies capable of preventing viral infection in models of human gastrointestinal tract infection.

Association of BLK and BANK1 gene polymorphisms with systemic lupus erythematous in Egyptian patients

This study examined the genotype, allelic frequencies (polymorphisms) in a sample of Egyptian patients and examined the relationship between disease activity in systemic lupus erythematosus (SLE) and the B lymphoid tyrosine kinase (BLK) and B-cell scaffold protein with ankyrin repeats 1 (BANK1) gene. This case control study involved 70 SLE patients and 40 subjects matched for age and sex as a control group. Clinical data were gathered from each participant, including SLE-related clinical activity indicators. Utilizing the restriction fragment length polymorphism (RFLP)-polymerase chain reaction (PCR), the single nucleotide polymorphisms (SNPs) BLK rs13277113G/A and BANK1 rs10516487G/A were assessed. The most prevalent genotype among the study participants was BLK rs13277113; G/G (57.1%), and BANK rs10516487; GG/ genotype (74.3%). There were no substantial variations in the incidence of genotype and allelic polymorphism between patients and controls (p>0.05). In the studied SLE patients, however, there was no significant association between both alleles (BANK rs10516487 gene alleles, G/G and G/A & BLK rs13277113, G/A, G/G &A/A) and the SLE disease activity score. While there was a significant association between BLK rs13277113 genotype alleles and age. In conclusion, BLK rs13277113 G/A and BANK1 rs10516487 G/A alleles showed no difference between SLE Egyptian patients compared to controls with no link between both genes and SLE disease activity.

Investigation of Metronidazole Resistance-Associated Mutations and Virulence Genotypes of Helicobacter pylori Isolated from Egyptian Population: A Cross-Sectional Study

IntroductionThis cross-sectional study assesses the prevalence of metronidazole resistance-associated mutations and virulence genotypes in Helicobacter pylori (H. pylori) strains isolated from the Egyptian population. H. pylori infection is a significant public health concern, with antibiotic resistance challenging its eradication. MethodsGastric biopsy samples were collected from symptomatic patients referred for upper gastrointestinal endoscopy at selected healthcare facilities. The study included 250 participants with symptoms suggestive of H. pylori infection and aged 18 years or older. Biopsy samples were obtained using standard endoscopic techniques, and H. pylori strains were isolated and identified in the laboratory. Antimicrobial susceptibility testing was conducted using standard methods. Molecular analysis, including polymerase chain reaction (PCR) and sequencing, was performed to identify metronidazole resistance-associated mutations (rdxA and frxA) and virulence genotypes (cagA and vacA). ResultsAntimicrobial susceptibility testing revealed that 43.6% of the isolates were resistant to metronidazole, while 11.8%, 4.5%, and 55.4% were resistant to clarithromycin, amoxicillin, and levofloxacin. Molecular analysis identified rdxA and frxA mutations in 36.3% and 31.8% of the isolates, respectively, indicating metronidazole resistance-associated mutations. Additionally, 60.0% of the isolates were positive for the cagA gene, and 80.0% had the vacA s1 type, both associated with increased virulence. A significant association was found between metronidazole resistance and the presence of cagA gene, vacA s1 type, rdxA mutation, and frxA mutation. Statistical analysis revealed associations between specific mutations and virulence genotypes with respective odds ratios, indicating higher likelihoods of metronidazole resistance in isolates exhibiting these genetic characteristics. ConclusionsThis study highlights the prevalence of metronidazole resistance and the association between specific mutations and virulence genotypes in H. pylori strains isolated from the Egyptian population. The findings underscore the importance of monitoring antibiotic resistance patterns and understanding the genetic determinants of virulence in H. pylori for effective management and treatment strategies.

Production of Norovirus VLPs of the Nine Representative Genotypes Widely Distributed in Japan using the Silkworm-Baculovirus Expression Vector System

Norovirus (NoV) is one of the major causes of acute viral gastroenteritis in humans. Genetic variation is abundant, and prevalent genotypes vary from year to year and region to region. Since NoVs are difficult to amplify in cultured cells, genome RNA-free virus-like particles (VLPs) that mimic the capsid structure of the virus are promising vaccine candidates for the prevention of NoVs infection, and the development of multivalent VLP vaccines is required to prevent NoV infection in a wide range of genotypes. In this study, we attempted to produce NoV VLPs of the top nine genotypes that have a history of epidemics in Japan using the silkworm-baculovirus expression vector system (silkworm-BEVS), which has a proven track record in the mass production of recombinant proteins. In silkworm pupae infected with recombinant baculoviruses constructed to express VP1s, the major protein that forms VLP, the NoV VP1 protein was expressed in large amounts. Most genotypes of VP1 accumulated in the cytoplasm as soluble proteins, but solubility was reduced for that of two genotypes. VP1s of five genotypes could be purified in large quantities (>0.9mg per pupa) by a two-step purification process, and gel filtration chromatography analysis confirmed the formation of VLPs. This study demonstrates the utility of silkworm-BEVS in producing NoV VLPs of multiple genotypes and provides the basis for the development of a multivalent vaccine against genetically diverse NoV infections.

Genotyping and phylogenetic analysis of human Papillomaviruses from women with genital warts

Background and objectives. The pathophysiology of Human Papillomavirus (HPV) infections is dependent on the genotype of virus, the host immune system and the local environmental conditions. HPV infections are linked to a variety of benign and malignant disorders. Anogenital warts is a Sexually Transmitted Infection (STI) primarily caused by Low-Risk HPV (LR-HPV) genotypes 6 and 11. The aims were to Investigation of the prevalence and genotypic distribution of HPV in women with genital warts in Mosul/Iraq, HPV-DNA sequencing and Phylogenetic analysis including minimum spanning trees of amplified HPV L1 gene comparison the present sequences with similar genotypes in GenBank – National Center Biotechnology Information (NCBI) using mega-7-software. Materials and methods. A total of 150 samples were collected from women with genital wart infections. Polymerase Chain Reaction (PCR) was performed using GP+5/GP+6 and MY09/MY11 consensus primers. Results. About 84.6% prevalence of HPV genotypes. The highest frequency (32% and 28.6%) were observed in the 19-28 and 29-38 age groups. Conclusion. Women in Mosul, Iraq, who have genital warts are more likely to have different genotypes of HPV. HPV 11 type was found to be the most common, followed HPV6 and HPV10 as LR HPV, while HPV 16 and HPV45 were the most common as HR HPV. The analysis of the phylogenetic tree revealed a genetic relationship between our isolates and global isolates ranging from (10-100%) bootstrap ratio this indicating phylogenetic relationships (divergent and convergent evolution) this was meant the diversity in origin of the various genotypes common in Mosul, Iraq.

Influence of the spread of the Beijing genotype of M. tuberculosis and its subtype B0/W148 on the incidence of tuberculosis in the population of the European and Asian Russia

Background. For historical reasons, the incidence of tuberculosis (TB) varies significantly across geographic areas of the Russian Federation. This situation may be associated with the spread of the dominant Beijing genotype of M. tuberculosis (MBT) and of its aggressive B0/W148 subtype in the human population. Establishing a relationship between these genetic variants of MBT and the incidence of tuberculosis will serve as evidence of their epidemiological significance and a reason for decisionmaking in the TB epidemiological surveillance system.The aim of the study. To assess the relationship between the spread of the Beijing M. tuberculosis genotype and its B0/W148 subtype with the incidence of tuberculosis in the cumulative population of the European and Asian parts of the Russian Federation.Materials and methods. An epidemiological study was conducted, including an analysis of the distribution data of the Beijing genotype of MBT and its B0/W148 subtype (meta-analysis) in Russia and a study of TB incidence rates in the same regions. To assess the relationship, we used the Pearson’s chi-square test (χ2); the significance level when testing statistical hypotheses (p) was taken as 0.05.Results. In the European regions of the Russian Federation, a statistically significant relationship was found between the TB incidence and the prevalence of MBT Beijing genotype (χ2 = 17.2; p = 0.009) and the absence of such a relationship with the B0/W148 subline (χ2 = 9.9; p = 0.127). In the Asian part of the Russian Federation, a highly statistically significant association was found between the incidence of TB and both the incidence of MBT Beijing genotype (χ2 = 25.4; p = 0.0001) and the incidence of its B0/W148 subtype (χ2 = 29.6; p < 0.0001).Conclusion. A statistically significant relationship was established between the incidence of TB in the general population and the incidence of MBT Beijing genotype, regardless of the value of the average long-term TB incidence rate. In areas with high TB prevalence, a stable association was determined between the incidence rate not only with MBT of the entire Beijing family, but also with its aggressive subtype B0/W148.

Hepatitis C Virus Infection in Europe.

The Hepatitis C Virus (HCV) is a significant public health challenge in European countries. Historically, healthcare-related procedures were the primary source of HCV infection in Europe. However, with the implementation of blood safety programs, injection drug use has become the main transmission route. The infection's distribution and genotype prevalence vary widely across the continent. Even with the availability of highly effective direct-acting antiviral (DAA) therapies, HCV infection is far from being controlled. A significant proportion of patients remain undiagnosed, contributing to the ongoing transmission of the virus. Additionally, several barriers hinder the widespread use of DAAs, including high treatment costs, stigma, poor linkage to care, and considerable geographical variations in prevalence and transmission routes. The World Health Organization has set ambitious targets to reduce liver-related deaths, decrease new viral hepatitis infections, and ensure that 90% of infected individuals are diagnosed by 2030. However, most European countries face challenges, highlighting the need for screening programs, funding mechanisms, and public health strategies to effectively control HCV infection in Europe.

No evidence of mutations associated with anticoagulant resistance in gene Vkorc1 in brown and black rats from Barcelona

Synanthropic rodents such as the brown rat (Rattus norvegicus) and black rat (Rattus rattus) are a source of disturbance in urban areas and the focus of control programs. Control measures often rely on anticoagulant rodenticides, but their broad use is compromised by the emergence of resistance. Here we studied the prevalence of anticoagulant resistance genotypes in the Vkorc1 gene in rats in the metropolitan area of Barcelona. In this area, part of the management practices to control brown rats include anticoagulant rodenticide use, but rodenticides with different active ingredients are used in rotation. Brown rats were sampled from the sewage system during two periods: from December 2016 to November 2017 when difenacoum and brodifacoum were used, and from August 2021 to July 2022 when bromadiolone was used. Because black rats have just recently been detected in Barcelona, we only studied them during the latter sampling period, with samples obtained from a control action carried out in a green urban area. Exon 3 of the Vkorc1 gene was characterized in both species, while exon 1 was additionally analyzed in black rats. Synonymous mutations, not resulting in amino-acid changes, were found in both exons, indicating no evidence of anticoagulant resistance in the rats of Barcelona. This finding indicates that the current rodent management plan in Barcelona, which involves anticoagulant rotation for brown rats and the use of life capture traps in specific situations for black rats, has helped to prevent the emergence of resistance to anticoagulant rodenticides in rats in Barcelona. Future actions should aim to diversify the control measures included in the rodent management plan.

Prevalence and genotype distribution of human papillomavirus (HPV) in penile cancer in Brazil

Objective: To estimate the prevalence and genotypic distribution of Human Papillomavirus (HPV) in penile cancer in Brazil. Methods: This is a systematic review and meta-analysis of studies published from 2000 to 2021, that investigated the prevalence and genotypic distribution of HPV in penile cancer in different geographical regions in Brazil, using molecular methods. The review was registered in the International Prospective Register of Systematic Reviews (PROSPERO), conducted in accordance with the Preferred Reporting of Systematic Reviews and Meta-Analysis Statement (PRISMA) and the quality of included studies was assessed by the Joanna Briggs Institute (JBI) Critical Appraisal Checklist for Studies Reporting Prevalence Data. Results: 15 studies were included, comprising 1,250 cases. The combined prevalence of HPV in penile cancer was 52.0% and the highest prevalence was observed in the Northeast region (79%), followed by the North region (54%), Southeast (44%) and Central-West region (31%). HPV16 was the most prevalent genotype, followed by HPV6, HPV11, HPV18, HPV51, HPV59, HPV74, HPV31, HPV35 and HPV68. Final considerations: Our results confirm the association of HPV with penile cancer and highlight the presence of viral genotypes not covered by the tetravalent prophylactic vaccine distributed by the public health system in Brazil.

High prevalence of HPV-56 and HPV-39 in Sari, Iran: an analysis of genotype distribution

BackgroundHuman papillomavirus (HPV) is responsible for the most common sexually transmitted infection, particularly among sexually active individuals. Understanding the geographical distribution and epidemiology of the most prevalent HPV genotypes is essential for developing effective prevention strategies. Consequently, this study aimed to examine the distribution of HPV genotypes among HPV-positive women and men in Sari, the capital city of Mazandaran province in northern Iran.Materials and methodsHPV DNA was extracted (PZP Company, Molecular IVD, Iran) from genital and cervical samples of the study participants. Genotyping was conducted for 90 cases utilizing the High + Low Papilloma Strip test (Operon Company, Spain). Demographic data were statistically analyzed in correlation with the virological data (STATA version 17).ResultsOverall, 67.7% (61 out of 90) of the cases tested positive for HPV, with 75% of those being classified as high-risk. The participant group consisted of 92% females (83) and 8% males (7). The highest HPV prevalence, 75% (36), was observed in females and males aged under 31, with the majority of positive cases belonging to high-risk genotypes. The most frequently identified genotypes were HPV-11 (23%), HPV-6 (21%), HPV-56 (18%), HPV-39 (16%), HPV-16, HPV-91, and HPV-66 each comprising (14%). HPV-56 was the most common high-risk genotype, accounting for 11 cases (18%), followed by HPV-39, which was present in 10 cases (16%).ConclusionThe prevalence of HPV infection was particularly high among individuals under the age of 31 for both genders, with men exhibiting a 100% infection rate. These findings emphasize the urgent need for targeted education aimed at the younger population and the implementation of infection control measures. Specifically, widespread HPV vaccination targeting HPV-6, HPV-11, HPV-39, and HPV-56 should be prioritized for the general population.

HUMAN PAPILLOMAVIRUS, CLINICAL, DERMATOLOGICAL AND GYNECOLOGICAL APPROACH

Introduction: Human papillomavirus (HPV) infection is associated with a wide range of cutaneous and mucosal manifestations. The spectrum of HPV ranges from inapparent infections, through multiple benign clinical presentations, including cutaneous and mucosal disease, to malignant and premalignant conditions. Cervical cancer is the fourth cancer with the highest incidence in women in the world, being the second cause of cancer death in women between 15 and 44 years of age, one of the risk factors for this cancer is the human papillomavirus. Objective: to detail the current information related to human papillomavirus, description, etiology, epidemiology, pathophysiology, anamnesis, physical examination, evaluation, treatment, differential diagnosis, prognosis, prevention and complications taking into account a clinical, dermatological and gynecological approach. Methodology: a total of 27 articles were analyzed in this review, including review and original articles, as well as clinical cases, of which 18 bibliographies were used because the other articles were not relevant for this study. The sources of information were PubMed, Google Scholar and Cochrane; the terms used to search for information in Spanish, Portuguese and English were: human papillomavirus, HPV, dermatosis, warts, infection, papanicolau, tumor virus infections. Results: HPV has been associated with the development of laryngeal, mouth, lung and anogenital cancers. Subtypes 6 and 11 are low risk and are usually associated with the formation of condylomas and low-grade precancerous lesions. Subtypes 16 and 18 are high-risk and are responsible for high-grade intraepithelial lesions that progress to malignant neoplasia. There are more than 180 HPV subtypes.The prevalence of genital HPV in adults aged 18-59 years is about 45.2% in males and 39.9% in females. The prevalence of high oncogenic risk HPV genotypes is 2.26%; (95%CI: 1.75-2.78), with the most common genotype being 16 (28.89%). Cervical cancer screening with cytology has significantly reduced the incidence and mortality of this type of cancer in developed countries, despite the fact that its sensitivity for detecting CIN2+ is around 66%. Conclusions: it is of remarkable importance to know the human papillomavirus outlook, especially because it is linked to a number of underlying clinical manifestations both benign, premalignant and malignant conditions. The authors recommend prevention, especially suggesting that boys and girls be vaccinated against HPV starting at 11 to 12 years of age, in addition to the other measures outlined in the article. It is important to understand that HPV alone does not cause cancer, but requires triggering factors such as smoking, folate deficiency, exposure to ultraviolet light, immunosuppression and pregnancy. Individuals with cutaneous warts have numerous treatment alternatives available, including surgical removal, cryotherapy, irritant or immunomodulatory drugs, and laser removal. KEY WORDS: HPV, infection, pap smear, warts.

Host-pathogen associations inferred from bloodmeal analyses of Ixodes scapularis ticks in a low biodiversity setting.

Tick-borne diseases, such as Lyme disease, babesiosis, and anaplasmosis, pose significant public health burdens. Tick bloodmeal analysis provides a noninvasive sampling method to evaluate tick-host associations and combined with a zoonotic pathogen assay, can generate crucial insights into the epidemiology and transmission of tick-borne diseases by identifying potential key maintenance hosts. We investigated the bloodmeals of questing Ixodes scapularis nymphs. We found that avian hosts, white-footed mice, and white-tailed deer fed the majority of larval ticks and differentially contributed to the prevalence of multiple tick-borne pathogens and pathogen genotypes in a low biodiversity island setting. Unraveling the intricate network of host-vector-pathogen interactions will contribute to improving wildlife management and conservation efforts, to developing targeted surveillance, and vector and host control efforts, ultimately reducing the incidence of tick-borne diseases and improving public health.

Human papillomavirus molecular prevalence in south China and the impact on vaginal microbiome of unvaccinated women.

In this study, we first investigated the prevalence of different HPV genotypes in south China, which could provide more information for HPV vaccinations. Then, a total of 185 subjects were selected from HPV-negative, high-risk, low-risk, multiple hr-hr HPV infection, and mixed hr-lr HPV infection populations to explore the vaginal microbiome changes. This study displayed that HPV52, HPV58, and HPV16 were the most prevalent high-risk variants in south China. In addition, high-risk HPV infection was featured by Lactobacillus iners, while low-risk HPV infection was by Lactobacillus crispatus. Further sub-group analysis showed that Lactobacillus jensenii was significantly reduced in patients with cervical lesions. Finally, CST clustering showed that CST IV was the most common type in HC group, while CST I accounted the most in H group. In a word, this study for the first time systemically profiled vaginal microbiome of different HPV infections, which may add bricks to current knowledge on HPV infection and lay the foundation for novel treatment/prevention development.

Regional and temporal genotype profiling of Clostridioides difficile in a multi-institutional study in Japan

Clostridioides difficile, a cause of healthcare-associated infections, poses a significant global health threat. This multi-institutional retrospective study focuses on epidemic dynamics, emphasizing minor and toxin-negative clinical isolates through high-resolution genotyping. The genotype of the C. difficile clinical isolates during 2005 to 2022 was gathered from 14 hospitals across Japan (N = 982). The total number of unique genotypes was 294. Some genotypes were identified in every hospital (cross-regional genotypes), while others were unique to a specific hospital or those in close geographic proximity (region-specific genotypes). Notably, a hospital located in a sparsely populated prefecture exhibited the highest prevalence of region-specific genotypes. The isolation rate of cross-regional genotypes positively correlated with the human mobility flow. A 6-month interval analysis at a university hospital from 2019 to 2021 revealed a temporal transition of the genotype dominance. The frequent isolation of identical genotypes over a brief timeframe did not always align with the current criteria for defining nosocomial outbreaks. This study highlights the presence of diverse indigenous C. difficile strains in regional environments. The cross-regional strains may have a higher competency to spread in the human community. The longitudinal analysis underscores the need for further investigation into potential nosocomial spread.

Association of Angiotensin Converting Enzyme (insertion\deletion) and Angiotensin II Type 1 Receptor (A1166C) gene polymorphisms with diabetic nephropathy in Iraqi type 2 diabetic patients

Renin-angiotensin-aldosterone system abnormalities are the most prevalent cause of renal hemodynamic abnormalities, and candidate genes in this system are involved in the etiology of diabetic nephropathy (DN). A polymorphism in the angiotensin converting enzyme (ACE) gene I(insertion)\D(deletion) has been correlated to plasma ACE levels. Furthermore, the Angiotensin II Type 1 Receptor AGT1R (A1166C) expression pattern is highly related to nephropathy. The objectives of this study involved evaluating the frequency of the ACE (I/D) and AGT1R (A1166C) gene polymorphisms and investigating the association of these polymorphism with the development of DN in Iraqi patients with Type 2 diabetes mellitus (T2DM) and evaluating the levels of several urinary and serum markers in relation to studied polymorphisms. This is a cross-sectional study that included 161 T2DM patients whom were divided into two groups: T2DM with DN(included 98 patients) and normalbuminuric T2DM (included 63 patients). ACE gene polymorphism analysis revealed that the D allele was far more prevalent in DN patients compared to normalbuminuric patients (60.2% vs. 50.8%), while the I allele frequency was 39.8% in DN and 49.2% in normoalbuminuric patients. In addition, DN patients carrying the DD genotype had higher serum kidney injury molecule 1 (KIM1), serum cystatin C (CysC), and HbA1C and lower glomerular filtration rate (GFR) compared to ID+II genotypes. For AGT1R (A1166C), both DN and normalbuminuric patients had a comparable high prevalence of the AA genotype, followed by the AC genotype, while the CC genotype had been seen only in 3 patients. In conclusion, among the studied T2DM patients, individuals with DD genotype had higher frequency of DN and had 2-fold risk for DN compared to II genotype which had the lowest risk for DN. Also the current study shows that the A1166C polymorphisms of AGT1R distribution frequency were similar for both study groups with higher frequency for A allele compared to C allele and not associated with risk of DN in Iraqi T2DM Keywords: Angiotensin Converting Enzyme (I\D) gene polymorphism, Angiotensin II Type 1 Receptor (A166C) gene polymorphisms, Cystatin C, Diabetic nephropathy, Kidney injury molecule1.

Human papillomavirus type-specific distribution in cervical intraepithelial neoplasia and cancer in The Gambia prior to HPV immunization programme: a baseline for monitoring the quadrivalent vaccine

BackgroundCervical cancer is the leading cause of cancer deaths in Gambian women. Current estimates indicate that 286 women are annually diagnosed with cervical cancer with a fatality rate of 70%. In an attempt to address this, in 2019 the quadrivalent HPV vaccine was incorporated into the Gambia’s Expanded Programme on Immunisation. The study aims to retrospectively assess the prevalence and distribution of high-risk HPV genotype in archived, formalin fixed paraffin embedded cervical biopsy tissues diagnosed with cervical cancer in the Gambia from year 2013–2022.MethodA total of 223 samples with histologically diagnosis of cervical cancer with adequate tissues were sectioned and deparaffinised, followed by HPV DNA extraction and the detection of HR-HPV by real-time multiplex PCR. The human β-globin gene was amplified in 119 samples, which were subsequently tested for HPV DNA.ResultsHPV was prevalent in 87.4% (104 of 119) cervical cancer cases, 12.6% (15/119) samples tested negative. Amongst cervical cancer cases, HPV 16 genotype was the most frequent type accounting for 53.8% (56 /104), followed by other HR-HPV genotypes 17.3% (18/104), and HPV genotype 18 was 15.4% (16/104). Furthermore, multiple HPV infections involving HPV 16 and /or 18 was detected in 14 cases as follows: HPV genotypes 16 and 18 (3.8%, 4 /104), HPV 16 and other HR-HPV (6.7%, 8/104), and HPV 18 and other HR-HPV (1.9%, 2/104). A significant association between age and diagnosis with cervical cancer (p = 0.02), and HPV genotype 16 (p = 0.04) was observed.ConclusionThere was no difference in the distribution of HPV 16 and 18 genotypes in cervical cancer cases in The Gambia in comparison with the global distribution. However, the high prevalence of cervical cancer cases with other HR-HPV, and combined infections of HPV 16 with other HR-HPV genotypes seen in this study, clearly shows that the nonavalent HPV vaccine could be more beneficial for The Gambia. This study provides The Gambia with a baseline data to use in policy decisions regarding future evaluation of the quadrivalent HPV vaccine in the country.

Molecular investigation of MEFV gene polymorphisms among patients with familial mediterranean fever-like symptoms.

The diagnosis of familial Mediterranean fever (FMF) is primarily based on clinical standards. The purpose of this study was to investigate the relevance of Mediterranean fever (MEFV) genetic testing in the diagnosis of FMF as well as to identify the most frequent variant alleles and their relationship to clinical symptoms in Egyptian patients. Egyptian patients with a clinical suspicion of having FMF were studied in order to determine MEFV genotypes. Each patient was meticulously evaluated through an extensive collection of their medical history, a thorough clinical examination, and a series of laboratory tests, encompassing CBC, ESR, and CRP measurements. The MEFV variant screening procedure included the use of reverse dot blot hybridization. The average age of our patients when they were given a diagnosis was 22.8 ±1.404 years old. The predominant clinical manifestations identified were abdominal pain, fever, and arthralgia. Molecular interrogation of the MEFV gene unveiled that a significant proportion of the cohort, constituting 72 individuals (60%), displayed heterozygosity, whereas a smaller fraction, comprising 12 subjects (10%), demonstrated homozygosity and an equivalent number (10%) exhibited compound heterozygosity. Pertaining to the distribution of allele variants, E148Q emerged as the most prevalent, succeeded by M694I, accounting for 12.5% of the cases, and M680I (G/A), representing 10.41%. This notable prevalence of heterozygous genotypes among the Egyptian demographic, preliminarily identified as potential FMF cases, underscores the imperative for molecular diagnostics to enhance the precision of FMF identification.

Human Papillomavirus Genotypes Distribution in High-Grade Cervical Lesions and Invasive Cervical Carcinoma in Women Living in Mauritania: Implications for Cervical Cancer Prevention and HPV Prophylactic Vaccination.

Cervical cancer related to high-risk human papillomavirus (HR-HPV) is the second female cancer in Mauritania (Northwest Sahelian Africa). We assessed the distribution of HPV genotypes in Mauritanian women with high-grade cervical intraepithelial neoplasia (CIN2/3) or invasive cervical cancer (ICC). A prospective study was conducted in the Centre Hospitalier National, Nouakchott, Mauritania, to collect cervical biopsies among women suspected of CIN2/3 or cancer. HPV DNA detection and genotyping were carried out from formalin-fixed, paraffin-embedded biopsies using multiplex PCR (Human Papillomavirus Genotyping Real-Time PCR Kit, Bioperfectus Technologies Co., Taizhou, China). Fifty biopsies were included from women (mean age: 56.7 years) suffering from CIN2/3 (28.0%) and ICC (72.0%) which corresponded to 32 (64.0%) squamous cell carcinomas (SCC) and 4 (8.0%) adenocarcinomas (ADC). HPV DNA detection was successful in 47 (94.0%) samples. The most prevalent HR-HPV genotypes were HPV-45 (40.4%), HPV-16 (38.3%), HPV-39 and HPV-52 (23.4%), HPV-33 (17.0%), HPV-18 (14.9%), HPV-35 (4.2%), and HPV-56 (2.1%). The majority (93.6%) of HPV-positive biopsies contained at least one HPV type covered by the 9-valent Gardasil-9® vaccine, and 40.9% were infected by multiple vaccine HPV genotypes. To eradicate cervical cancer in Mauritania, prophylactic HPV vaccination must be combined with primary molecular screening of cervical HR-HPV infection.