HIV-1 Sub-Subtype A6: Settings for Normalised Identification and Molecular Epidemiology in the Southern Federal District, Russia.
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ABSTRACT:
SUBMITTER: Schlosser M
PROVIDER: S-EPMC7232409 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:The increasing use of the integrase strand transfer inhibitor (INSTI) class for the treatment of HIV-infection has pointed to the importance of analyzing the features of HIV-1 subtypes for an improved understanding of viral genetic variability in the occurrence of drug resistance (DR). In this study, we have described the prevalence of INSTI DR in a Russian cohort and the genetic features of HIV-1 integrase sub-subtype A6. We included 408 HIV infected patients who were not exposed to INSTI. Drug resistance mutations (DRMs) were detected among 1.3% of ART-naïve patients and among 2.7% of INSTI-naïve patients. The prevalence of 12 polymorphic mutations was significantly different between sub-subtypes A6 and A1. Analysis of the genetic barriers determined two positions in which subtype A (A1 and A6) showed a higher genetic barrier (G140C and V151I) compared with subtype B, and one position in which subtypes A1 and B displayed a higher genetic barrier (L74M and L74I) than sub-subtype A6. Additionally, we confirmed that the L74I mutation was selected at the early stage of the epidemic and subsequently spread as a founder effect in Russia. Our data have added to the overall understanding of the genetic features of sub-subtype A6 in the context of drug resistance.
| S-EPMC7472261 | biostudies-literature
Project description:Our objective was to examine the prevalence of Fabry disease in Russian children with chronic pain in the distal limbs. This non-interventional, multi-centre study included children 2-18 years of age with chronic recurrent unilateral or bilateral pain, burning, or acroparesthesia in the hands or feet. The presence of Fabry disease was defined by abnormal alpha-galactosidase A activity in males or alpha-galactosidase gene (GLA) mutation in females. Among 214 patients (110 males), 84.1% had bilateral limb pain and 31.8% had unilateral limb pain recorded at some time point; 61 (28.5%) patients had a positive family history possibly associated with Fabry disease. Alpha-galactosidase A activity was within the normal range in all 109 of the male patients tested. One female patient had a GLA mutation (C937G > T) and alpha-galactosidase A activity within the normal range.We did not find definitive evidence of Fabry disease in these children with a history of chronic recurrent unilateral or bilateral limb pain or acroparesthesia. The presence of chronic limb pain does not appear to be highly predictive of a diagnosis of Fabry disease in Russian children and adolescents, suggesting that key early signs and symptoms of Fabry disease are not specific to the disease. What is Known: • Signs and symptoms of Fabry disease are seen in children < 10 years of age; pain in the distal limbs is a common early symptom. What is New: • Fabry disease was not diagnosed in this population of Russian children with a history of chronic limb pain. • The presence of acroparesthesia or chronic limb pain does not appear to be highly predictive of a diagnosis of Fabry disease in Russian children and adolescents, suggesting that these early symptoms of Fabry disease are not specific to the disease.
| S-EPMC5602089 | biostudies-literature
Project description:BackgroundHIV outbreaks in the Former Soviet Union (FSU) countries were characterized by repeated transmission of the HIV variant AFSU, which is now classified as a distinct subtype A sub-subtype called A6. The current study used phylogenetic/phylodynamic and signature mutation analyses to determine likely evolutionary relationship between subtype A6 and other subtype A sub-subtypes.MethodsFor this study, an initial Maximum Likelihood phylogenetic analysis was performed using a total of 553 full-length, publicly available, reverse transcriptase sequences, from A1, A2, A3, A4, A5, and A6 sub-subtypes of subtype A. For phylogenetic clustering and signature mutation analysis, a total of 5961 and 3959 pol and env sequences, respectively, were used.ResultsPhylogenetic and signature mutation analysis showed that HIV-1 sub-subtype A6 likely originated from sub-subtype A1 of African origin. A6 and A1 pol and env genes shared several signature mutations that indicate genetic similarity between the two subtypes. For A6, tMRCA dated to 1975, 15 years later than that of A1.ConclusionThe current study provides insights into the evolution and diversification of A6 in the backdrop of FSU countries and indicates that A6 in FSU countries evolved from A1 of African origin and is getting bridged outside the FSU region.
| S-EPMC8668117 | biostudies-literature
Project description:HIV-1 subtype B is the predominant strain in Bulgaria, yet little is known about the molecular epidemiology of these infections, including its origin and transmissibility. We used a phylodynamics approach by combining and analyzing 663 HIV-1 polymerase (pol) sequences collected from persons diagnosed with HIV/AIDS between 1988-2018 and associated epidemiologic data to better understand this sub-epidemic in Bulgaria. Using network analyses at a 1.5% genetic distance threshold (d) we found several large phylogenetic clusters composed mostly of men who have sex with men (MSM) and male heterosexuals (HET). However, at d = 0.5%, used to identify more recent transmission, the largest clusters dissociated to become smaller in size. The majority of female HET and persons with other transmission risks were singletons or pairs in the network. Phylogenetic analysis of the Bulgarian pol sequences with publicly available global sequences showed that subtype B was likely introduced into Bulgaria from multiple countries, including Israel and several European countries. Our findings indicate that subtype B was introduced into Bulgaria multiple times since 1988 and then infections rapidly spread among MSM and non-disclosed MSM. These high-risk behaviors continue to spread subtype B infection in Bulgaria as evidenced by the large clusters at d = 0.5%. Relatively low levels of antiretroviral drug resistance were observed in our study. Prevention strategies should continue to include increased testing and linkage to care and treatment, as well as expanded outreach to the MSM communities.
| S-EPMC7232140 | biostudies-literature
Project description:Maternal perception of child's nutritional status has a potential impact on the identification, prevention, and treatment of childhood overweight. Thus, the aim of this study was to evaluate the prevalence of misperception and factors associated with maternal perception of the nutritional status of first- to third-grade elementary school students from private schools in the Federal District, Brazil. This cross-sectional study was conducted with 554 mother-child pairs. Children's nutritional status was assessed by measuring their weight and height. The mothers completed an online questionnaire about sociodemographic data, maternal nutritional status, maternal perception of her own nutritional status (silhouette scale for female adults), and maternal perception of child's nutritional status (silhouette scale for children). Only 30.0% of the mothers were successful in choosing the most appropriate silhouette to represent child's nutritional status. Highly educated mothers (Adjusted OR = 1.51) and mothers of male children (Adjusted OR = 2.53) or of non-overweight children (Adjusted OR = 1.65) were more likely to underestimate child's nutritional status. Conversely, mothers below 35 years of age (Adjusted OR = 1.85) and mothers of female children (Adjusted OR = 2.24) or of overweight children (Adjusted OR = 1.94) were more likely to overestimate child's nutritional status. There was a high prevalence of misperception, which shows the need for interventions for children that take into account the relevance of mother's role and the adequate recognition of child's nutritional status.
| S-EPMC5405958 | biostudies-literature
Project description:Group A rotaviruses remain the leading cause of diarrhoea in children aged <5 years. Mozambique introduced rotavirus vaccine (Rotarix®) in September 2015. We report rotavirus genotypes circulating among symptomatic and asymptomatic children in Manhiça District, Mozambique, pre- and post-vaccine introduction. Stool was collected from enrolled children and screened for rotavirus by enzyme-immuno-sorbent assay. Positive specimens were genotyped for VP7 (G genotypes) and VP4 (P genotypes) by the conventional reverse transcriptase polymerase chain reaction. The combination G12P[8] was more frequently observed in pre-vaccine than in post-vaccine introduction, in moderate to severe diarrhoea (34%, 61/177 vs. 0, p < 0.0001) and controls (23%, 26/113 vs. 0, p = 0.0013) and mixed genotypes (36%, 24/67 vs. 7% 4/58, p = 0.0003) in less severe diarrhoea. We observed changes in post-vaccine compared to pre-vaccine introduction, where G3P[4] and G3P[8] were prevalent in moderate to severe diarrhoea (10%, 5/49 vs. 0, p = 0.0002; and 14%, 7/49 vs. 1%, 1/177, p < 0.0001; respectively), and in less severe diarrhoea (21%, 12/58 vs. 0, p = 0.003; and 24%, 14/58 vs. 0, p < 0.0001; respectively). Our surveillance demonstrated the circulation of similar genotypes contemporaneously among cases and controls, as well as switching from pre- to post-vaccine introduction. Continuous surveillance is needed to evaluate the dynamics of the changes in genotypes following vaccine introduction.
| S-EPMC8781303 | biostudies-literature
Project description:Dengue's increasing trends raise concerns over global health and pose a challenge to the Brazilian health system, highlighting the necessity of a strong surveillance system to reduce morbidity, mortality, and the economic burden of this disease. Although the Brazilian surveillance system reports more dengue cases than any other country, recent studies suggest that non-reported cases are the majority. The aim of the study is to explore the strengths and weaknesses of the Brazilian surveillance system, particularly looking at the functioning of data collection and reporting. This was done through qualitative semi-structured interviews with 17 experts in dengue surveillance, supported by quantitative data from the official notification system. To select the interviewees, purposive and theoretical sampling were used. Data were analyzed through thematic analysis. The research highlighted that a lack of human and technological resources in healthcare units and surveillance departments slows down the notification process and data analysis. Due to a lack of integration in the private sector, the surveillance system fails to detect the socioeconomic profile of the patients. Investments in public healthcare, human and technological resources for surveillance and better integration in the private healthcare system, and vector surveillance may improve dengue surveillance.
| S-EPMC7142734 | biostudies-literature
Project description:BackgroundAdvance Care Planning (ACP) by Registered Nurses (RNs) has been emerging. However, there is limited understanding about what RNs experience as they incorporate ACP into their practice. This study aimed to elicit the experiences of ACP RNs with the implementation of a normalised ACP (NACP) service in hospital and community care settings.MethodsA qualitative descriptive study invited four ACP RNs who delivered a nurse-led NACP for a 6 months duration at two hospital and two community health care settings in New South Wales (NSW), Australia. The experiences of the ACP RNs were captured through a semi-structured interview and weekly debriefing meetings. The interview recordings were transcribed verbatim and the minutes of weekly debriefing meetings were utilized. Data were analysed by two independent researchers using thematic analysis with the Normalisation Process Theory (NPT) as a methodological framework.FindingsThe ACP RNs were females with a mean age of 43 years old. Their nursing experiences ranged 2 to 25 years but they had minimal experiences with ACP and had not attended any education about ACP previously. The following four themes were identified in the experiences of the ACP RNs; 1) Embracing NACP service; 2) Enablers and barriers related to patients and health professionals; 3) Enablers and barriers related to ACP RNs; and 4) What it means to be an ACP RN.ConclusionThe introduction of a NACP service into existing clinical systems is complex. The study demonstrated the capacity of RNs to engage in ACP processes, and their willingness to deliver an NACP service with a raft of locally specific enablers and barriers.Trial registrationThe study was retrospectively registered with the Australian New Zealand Clinical Trials Registry (Trial ID: ACTRN12618001627246 ). The URL of the trial registry record.
| S-EPMC8431845 | biostudies-literature
Project description:BACKGROUND:With the publication of Sepsis-3 definition, epidemiological data based on Sepsis-3 definition from middle-income countries including China are scarce, which prohibits understanding of the disease burden of this newly defined syndrome in these settings. The purpose of this study was to describe incidence and outcome of Sepsis-3 in Yuetan sub-district of Beijing and to estimate the incidence rate of Sepsis-3 in China. METHODS:The medical records of all adult residents hospitalized from July 1, 2012 to June 30, 2014 in Yuetan sub-district of Beijing were reviewed. Patients with sepsis-3 and severe sepsis/septic shock were identified. The incidence rates and mortality rate of sepsis-3 and sepsis/septic shock were calculated, incidence rates and in-hospital mortality rates were normalized to the population distribution in the 2010 National Census. Population incidence rate and case fatality rate between sexes were compared with the Z test, as the data conformed to Poisson distribution. RESULTS:Of the 21,191 hospitalized patients, 935 patients were diagnosed with Sepsis-3, and 498 cases met severe sepsis/septic shock criteria. The crude annual incidence rate of Sepsis-3 in Yuetan sub-district was 363 cases per 100,000 population, corresponding to standardized incidence rates of 236 cases per 100,000 population per year, respectively. The overall case fatality rate of Sepsis-3 was 32.0%, the crude population mortality rates of Sepsis-3 was 116 cases per 100,000 population per year, the standardized mortality rate was 67 cases per 100,000 population per year, corresponding to a speculative extrapolation of 700,437 deaths in China. The incidence rate and mortality rate of Sepsis-3 were significantly higher in males, elderly people, and patients with more comorbidities. The 62.1% of patients with Sepsis-3 had community-acquired infections, compared with 75.3% of infected patients without Sepsis-3 (P?<?0.001). The most common infection in patients with Sepsis-3 was lower respiratory tract infection. When compared with patients with Sepsis-3, patients diagnosed as severe sepsis/septic shock were more likely to have higher case fatality rate (53.4% vs. 32.0%, P?<?0.001) CONCLUSIONS:: This study found the standardized incidence rate of 236 cases per 100,000 person-year for Sepsis-3, which was more common in males and elderly population. This corresponded to about 2.5 million new cases of Sepsis-3 per year, resulting in more than 700,000 deaths in China. CLINICAL TRIAL REGISTRATION:NCT02285257, https://clinicaltrials.gov/ct2/show/record/NCT02285257.
| S-EPMC6793784 | biostudies-literature
Project description:Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme involved in the glycosaminoglycan (s) (GAGs) metabolism. Here, we present the results of the study of ARSB DNA analysis in MPS VI patients in the Russian Federation (RF) and other republics of the Former Soviet Union. In a cohort of 68 patients (57 families) with MPS VI, a total of 28 different pathogenic alleles were found. The most prevalent nucleotide changes included NM_000046.5:c.194C>T and NM_000046.5:c.454C>T. Five pathogenic alleles were novel, not previously reported (NM_000046.5:c.304C>G, NM_000046.5:c.533A>G, NM_000046.5:c.941T>C, NM_000046.5:c.447_456del10, and NM_000046.5:c.990_10003del14). The nucleotide variant NM_000045.6:c.454C>T was the prevalent allele among Slavic Russian patients. The nucleotide variant NM_000045.6:c.194C>T was found only in MPS VI families from the Republic of Dagestan. Based on the analysis of dry blood spots (DBSs) collected from newborns in this RF region, we showed the frequency of this mutant allele in the Republic of Dagestan to be 0.01 corresponding to the MPS VI frequency of nearly 1:10,000, which is one of the highest worldwide. This may eventually make the selective asymptomatic carrier test and newborn screening highly feasible in this region of the country.
| S-EPMC8804521 | biostudies-literature