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Wilson disease (WD) is a rare inherited copper metabolism disorder characterized by progressive pathological deposition of copper, primarily in the liver and brain. This longitudinal retrospective study conducted using the French national claims (Système National des Données de Santé [SNDS]) database assessed WD prevalence in France, described patients' characterizations and healthcare resource use and associated costs. Patients with WD were identified from SNDS using the International Classification of Diseases, 10th Revision code E83.0 for copper metabolism disorder or a long-term disease (affection de longue durée [ALD]) associated with this code between 2010 and 2019. Patients were categorized into hepatic, neurological, and psychiatric sub-cohorts. We identified 2287 patients with WD yielding a crude prevalence of 1 case per 33 898 individuals in 2019. The mean age at inclusion was 39.9 (standard deviation [SD] 22.8) years, 11 years more than that of the incident cohort (28.6, SD 20.3) identified via ALD, and 1180 (51.6%) patients were male. The crude mortality was 3.2% (in total 370 patients died). Overall, 1011 (44.2%), 754 (33.0%), and 414 (18.1%) patients experienced hepatic, neurological, and psychiatric manifestations, respectively. In total, 922 (40.3%) patients were reimbursed for WD-specific treatment, the most common being D-penicillamine (74.8%), and 201 (8.8%) underwent liver transplantation. The average annual hospitalization cost per patient was 4273.7€ (SD 11916.0). At least one sick leave was reported for 533 (23.3%) patients, with an annual average cost of 788.7€ (SD 1328.6). Our findings provide an updated understanding of the prevalence of WD, and indicate a considerable level of morbidity in this population, as well as a high level of direct/indirect costs associated with WD., (© 2024 The Author(s). Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)

Aims: Reliable national estimates for the incidence and prevalence of immunoglobulin A nephropathy (IgAN) in the United States (U.S.) are needed. We performed a national survey with pathologists and used insurance claims data to estimate IgAN frequency nationwide., Materials and Methods: An online survey with pathologists was conducted between November and December 2021 to obtain data on the number and types of biopsies evaluated and the proportion with IgAN confirmed. Biopsy data were extrapolated to two different claims databases to estimate incidence and prevalence. Results were validated against a separate dataset of electronic health records., Results: A total of 43 pathologists from across U.S. regions reported evaluating a mean of 169 kidney biopsies (standard deviation 179.1) in the past 12 months. Of the 7,267 total biopsies evaluated, 632 (8.7%) were IgAN. Based on the respective claims databases, annual incidence rates of 2.1 and 2.2 per 100,000 and prevalence rates of 59.9 and 62.7 per 100,000 were estimated. Results from the validation dataset were similar, with an incidence of 1.9 per 100,000 and prevalence of 54.2 per 100,000., Conclusion: This study estimated incidence and prevalence of IgAN. Extrapolating the findings to the U.S. population for 2021, total prevalence was 198,887 - 208,184 persons.

IntroductionA national study from 2006 to 2008 showed a high antibody prevalence of 3.2% against hepatitis C virus (HCV) in Romania, but more recent epidemiological data on hepatitis C prevalence are lacking.AimWe aimed to estimate the current prevalence of HCV antibodies (anti-HCV) and chronic HCV infection in the general adult population in Romania, as a crucial element in monitoring progress towards eliminating hepatitis C.MethodsWe used anonymised leftover sera from a SARS-CoV-2 survey conducted between July and October 2020 (n = 2,100), supplemented with sera collected prospectively between July 2022 and March 2023 (n = 574). These included sera collected from adults visiting laboratories for routine medical check-ups. Sera were tested for anti-HCV and HCV core antigen and classified according to anti-HCV and chronic infection status.ResultsOf the total 2,674 specimens tested, 44 were anti-HCV-positive with a weighted anti-HCV prevalence of 1.4% (95% CI: 1.0-1.9), and 29 were HCV core antigen-positive with a weighted prevalence of chronic infection of 0.9% (95% CI: 0.5-1.2). The prevalence of chronic infection did not differ significantly between men and women. It was higher in persons 60 years and older (2.0%; 95% CI: 1.1-3.0) and in specimens from the North-East region (2.2%; 95% CI: 0.8-3.7).ConclusionAlthough the overall HCV prevalence in Romania is currently low, targeted screening, prevention measures and treatment scale-up are needed especially for the population 60 years and older and in the north-eastern part of the country to achieve the goal of ending the hepatitis C epidemic.

IntroductionObtaining epidemiological data on chronic hepatitis C virus (HCV) infection is essential to monitor progress towards the hepatitis C elimination targets.AimWe aimed to estimate the prevalence of chronic HCV and the seroprevalence of HCV in the adult general population in Estonia.MethodsThis cross-sectional study, conducted between 12 July and 6 December 2022, included anonymised residual sera collected prospectively from patients 18 years and older visiting a general practitioner in all counties of Estonia. Specimens were considered HCV-seropositive if they tested positive for HCV antibodies by enzyme-linked immunoassay, confirmed by line-immunoblot assay. Chronic HCV infection was determined by positive RT-qPCR.ResultsWe tested a total of 4,217 specimens. The estimated HCV seroprevalence and prevalence of chronic HCV infection were 1.8% (95% CI: 1.4-2.2) and 0.8% (95% CI: 0.5-1.1), respectively, with ca 8,100 persons estimated to have chronic HCV infection in the general adult population of Estonia. No statistically significant differences in the prevalence of chronic HCV infection were observed between sexes, counties or age groups, with the highest prevalence rates observed in men (sex ratio: 1.7), Ida-Virumaa County (1.8%; 95% CI: 0.8-3.6) and the age group 40-49 years (1.7%; 95% CI: 0.9-2.9).ConclusionThis study found an overall low prevalence of chronic HCV infection in Estonia. Continued efforts should be made for the targeted screening, diagnosis and treatment of individuals with chronic HCV infection to achieve hepatitis elimination targets.

Background: Antimicrobial resistance (AMR) in Neisseria gonorrhoeae is a global health challenge. Limitations to AMR surveillance reporting, alongside reduction in culture-based susceptibility testing, has resulted in a need for rapid diagnostics and strain detection. We investigated Nanopore sequencing time, and depth, to accurately identify closely related N. gonorrhoeae isolates, compared to Illumina sequencing., Methods: N. gonorrhoeae strains collected from a London sexual health clinic were cultured and sequenced with MiSeq and MinION sequencing platforms. Accuracy was determined by comparing variant calls at 68 nucleotide positions (37 resistance-associated markers). Accuracy at varying MinION sequencing depths was determined through retrospective time-stamped read analysis., Results: Of 22 MinION-MiSeq pairs reaching sufficient sequencing depth, agreement of variant call positions passing quality control criteria was 185/185 (100%; 95% confidence interval [CI], 98.0%-100.0%), 502/503 (99.8%; 95% CI, 98.9%-99.9%), and 564/565 (99.8%; 95% CI, 99.0%-100.0%) at 10x, 30x, and 40x MinION depth, respectively. Isolates identified as closely related by MiSeq, within one yearly evolutionary distance of ≤5 single nucleotide polymorphisms, were accurately identified via MinION., Conclusions: Nanopore sequencing shows utility as a rapid surveillance tool, identifying closely related N. gonorrhoeae strains, with just 10x sequencing depth, taking a median time of 29 minutes. This highlights its potential for tracking local transmission and AMR markers., (© The Author(s) 2023. Published by Oxford University Press on behalf of Infectious Diseases Society of America.)

Aim: Biliary tract cancers are aggressive, with poor prognosis. This study describes clinical characteristics, treatment patterns and healthcare resource utilization in patients with metastatic biliary tract cancer in Japan. Materials & methods: This cohort-based study collected data from the Japan Medical Data Center claims database (2014-2018). Results: A total of 325 patients were included; 65.2% were male and the mean age was 59.2 years. A 47.6% had an Elixhauser Comorbidity Index score ≥5. Most frequent regimens were gemcitabine + cisplatin (52.9%) for first-line therapy and tegafur + gimeracil + oteracil for second-line therapy (48.6%) and third-line therapy (27.2%). Approximately 77% of patients had ≥1 hospital admission, with a median length of 57 days. Conclusion: This study provides insights on the characteristics and burden of metastatic biliary tract cancer in Japan, highlighting high disease burden in a younger population.

Introduction: Chronic hepatitis B (CHB) is one of the world's major healthcare problems, especially in the Western Pacific regions. This study describes the prevalence, incidence, treatment profiles and clinical and economic burden of chronic hepatitis B patients in Japan using the Japan Medical Data Center (JMDC) Claims Database., Methods: This is a retrospective observational study. Prevalence cases were identified as patients with ≥ 1 inpatient or ≥ 2 outpatient CHB diagnoses and ≥ 2 records for hepatitis B tests or ≥ 1 prescription for CHB treatment between January 2010 and December 2019. Newly diagnosed CHB patients were defined as patients diagnosed from 2010 to 2018 with no history of the disease up to 2 years prior to the diagnosis. The index date is defined as the first CHB diagnosis day. We only used patients' data with ≥ 1-year post-index date., Results: We identified 13,061 CHB prevalent cases (2010-2019), yielding a crude period prevalence of 0.32%. Newly diagnosed CHB patients (n = 1973; median age 52 years) were followed for a median period of 3.1 years, during which 15% received a CHB treatment. Entecavir was the most common first treatment (66%). During this period, 3.4% of the patients developed compensated cirrhosis (CC), 1.5% decompensated cirrhosis (DC) and 3.0% hepatocellular carcinoma (HCC). Around 43.3% of CHB patients were hospitalized at least once. Hospitalizations, treatment rates, serologic testing and screening for liver diseases increased as the severity of the disease progressed. The average total healthcare cost was 870,568 JPY (7779 USD) per person per year. DC and HCC resulted in the highest management costs., Conclusions: Chronic hepatitis B represents a high clinical and economic burden for patients and caregivers, given its morbidity and associated costs., (© 2023. The Author(s).)

Objectives: A lactobacilli-dominated vaginal microbiome may protect against pelvic inflammatory disease (PID), but one dominated by Gardnerella species might increase susceptibility. Not all lactobacilli are equally protective. Recent research suggests that D(-) isomer lactic acid producing lactobacilli ( Lactobacillus crispatus, Lactobacillus jensenii and Lactobacillus gasseri ) may protect against infection with Chlamydia trachomatis , an important cause of PID. Lactobacillus iners , which produces L(+) isomer lactic acid, may be less protective. We investigated the microbiome in stored vaginal samples from participants who did or did not develop PID during the prevention of pelvic infection (POPI) chlamydia screening trial., Methods: Long-read 16S rRNA gene nanopore sequencing was used on baseline vaginal samples (one per participant) from all 37 women who subsequently developed clinically diagnosed PID during 12-month follow-up, and 111 frequency matched controls who did not, matched on four possible risk factors for PID: age <20 versus ≥20, black ethnicity versus other ethnicity, chlamydia positive versus negative at baseline and ≥2 sexual partners in the previous year versus 0-1 partners., Results: Samples from 106 women (median age 19 years, 40% black ethnicity, 22% chlamydia positive, 54% reporting multiple partners) were suitable for analysis. Three main taxonomic clusters were identified dominated by L. iners, L. crispatus and Gardnerella vaginalis . There was no association between a more diverse, G. vaginalis dominated microbiome and subsequent PID, although increased Shannon diversity was associated with black ethnicity (p=0.002) and bacterial vaginosis (diagnosed by Gram stain p<0.0001). Women who developed PID had similar relative abundance of protective D(-) isomer lactic acid producing lactobacilli to women without PID, but numbers of PID cases were small., Conclusions: In the first-ever community-based prospective study of PID, there was no clear association between the vaginal microbiome and subsequent development of PID. Future studies using serial samples may identify vaginal microbial communities that may predispose to PID., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.)

Point-of-care tests (POCTs) to diagnose sexually transmitted infections (STIs) have potential to positively impact patient management and patient perceptions of clinical services. Yet there remains a disconnect between development of new technologies and their implementation into clinical care. With the advent of new STI POCTs arriving to the global market, guidance for their successful adoption and implementation into clinical services is urgently needed. We conducted qualitative in-depth interviews with professionals prior to and post-implementation of a Chlamydia trachomatis/Neisseria gonorrhoeae POCT into clinical services in England to define key stakeholder roles and explore the process of POCT integration. Participants self-identified themselves as key stakeholders in the STI POCT adoption and/or implementation processes. Data consisted of interview transcripts, which were analysed thematically using NVIVO 11. Six sexual health services were included in the study; three of which have implemented POCTs. We conducted 40 total interviews: 31 prior to POCT implementation and 9 follow-up post-implementation. Post-implementation data showed that implementation plans required little or no change during service evaluation. Lead clinicians and managers self-identified as key stakeholders for the decision to purchase, while nurses self-identified as "change champions" for implementation. Many identified senior clinical staff as those most likely to introduce and drive change. However, participants stressed the importance of engaging all clinical staff in implementation. While the accuracy of the POCT, its positive impact on patient management and the ease of its integration within existing pathways were considered essential, costs of purchasing and utilising the technology were identified as central to the decision to purchase. Our study shows that key decision-makers for adoption and implementation require STI POCTs to have laboratory-comparable accuracy and be affordable for purchase and ongoing use. Further, successful integration of POCTs into sexual health services relies on supportive interpersonal relationships between all levels of staff., Competing Interests: The authors have read the journal’s policy and have the following competing interests to declare: At the time this research was being conducted, all authors were employed by the Applied Diagnostic Research and Evaluation Unit (ADREU) at St George’s University of London; ADREU has received funding from Abbott (https://www.abbott.com/), binx health (https://mybinxhealth.com/), Cepheid (https://www.cepheid.com/), SpeedDx (https://plexpcr.com/), Mologic (https://mologic.co.uk/), Revolugen (https://revolugen.co.uk/), and Sekisui (https://sekisuidiagnostics.com/), for the research and evaluation of their diagnostics. The present study was funded by a collaborative grant (ref: no. 90174-463338; awarded to STS, SSF, EMHE) between binx health and St George’s University of London. This does not alter our adherence to PLOS ONE policies on sharing data and materials. There are no patents, products in development or marketed products associated with this research to declare.

Background: There are limited published data on factors related to risky sexual practices (RSP) affecting sexually transmitted infections (STIs) among female sex workers (FSWs) in Ecuador., Methods: Cross-sectional study of FSWs presenting for a consultation in a primary health care centre during 2017. A questionnaire was administered to collect information on RSP and potential risk factors including age, membership of an FSW association, self-report of previous STI diagnosis, previous treatment for suspected STI and temporary migration for sex work. Associations between RSP and potential risk factors were estimated by logistic regression. The proportion of STI was estimated from vaginal swabs by real-time PCR for four sexually transmitted pathogens (Neisseria gonorrhoeae, Trichomonas vaginalis, Chlamydia trachomatis, and Mycoplasma genitalium)., Results: Of 249 FSWs recruited, 22.5% had reported RSPs at least once during sex work. Among FSWs reporting unprotected vaginal sex in the previous three months, 25.5% had at least one other RSP type. 17.6% (95%CI 13.3-22.8) had at least one active STI. Prevalence of co-infections was 2.4% (95%CI 1.1-5.2). In multivariable analysis, RSP was associated with age (adjusted OR 1.06; 95%CI 1.02-1.10), membership of an FSWs association (aOR 3.51; 95%CI 1.60-7.72) and self-reported previous STI (aOR 3.43; 95%CI 1.28-9.17)., Conclusions: Among a population of female sex workers with high proportion of STIs, increasing age and belonging to an FSWs association was associated with a higher likelihood of engaging in RSP with clients. Engaging with FSWs organisations may reduce the burden of STI among sex workers., Competing Interests: The authors have declared that no competing interests exist.

Objectives: Azithromycin treatment of Chlamydia trachomatis (CT) may not be adequate to treat concomitant Mycoplasma genitalium (MG) infection, and particularly if MG has macrolide resistance-associated mutations (MG-MRAMs). We estimated prevalence of coinfections of CT with MG carrying MRAM, and risk factors for MG-MRAM among a sexual health clinic population., Study Design and Setting: Among symptomatic and STI-contact clinic attendees in London, prevalence of CT-MG coinfection and MG-MRAM were estimated using nucleic acid amplification testing and Sanger sequencing, respectively, and their associated risk factors analysed using logistic regression., Results: MG prevalence was 7.5% (23/307), 17.3% (30/173), and 11.4% (8/70) in females, men who have sex with women (MSW) and men who have sex with men (MSM), respectively; MG coinfection in CT-infected participants represented 28.0% (7/25), 13.5% (5/37), 0.0% (0/0), respectively. Presence of MG-MRAM was 39.1% (9/23) in female swabs, 70.0% (21/30) in MSW urine and 83.3% (5/6) in MSM rectal swabs. In multivariate analyses, coinfection with another STI was strongly associated with MG-MRAM (OR: 7.19; 95% CI: 2.4 to 21.5)., Conclusion: A significant proportion of participants in our study of symptomatic patients and STI contacts were infected with macrolide-resistant MG, suggesting that testing for MG and MRAM, for MG positives, might be clinically useful. The findings also suggest services explore potential benefits of testing CT positive samples for MG in these patient groups. Where MG testing is not available, potential high rates of MG coinfection should be borne in mind when considering azithromycin in the treatment of CT among STI contacts and symptomatic patients., (© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Objectives: Portugal has the highest HIV incidence rate in Western Europe. The proportion assigned to sexual contact between men recently increased to more than 30% of all HIV infections. Men who have sex with men (MSM) are vulnerable to the acquisition of other sexually transmitted infections (STIs), increasing the per-contact risk of HIV infection. Building on syndemic theory, the aim of this analysis was to identify patterns of current sexual behaviour in MSM, and explore their relationship with self-reported current, past STI diagnoses and HIV positive serostatus., Design: A cross-sectional behavioural survey was conducted in Portugal among MSM, using a community-based participatory research approach. Hierarchical cluster analysis was used to identify patterns including behavioural and demographic factors., Results: The analysis resulted in six clusters. Three clusters showed higher rates of current STI diagnosis (ranging from 11.7% to 17.1%), past STI diagnosis (ranging from 25.5% to 41.5%) and HIV positive serostatus (ranging from 13.0% to 16.7%). From the three clusters scoring lower on current and past STI and HIV diagnoses, one was characterised by a high number of sexual partners (62% had more than 12 partners in the last year), a high proportion (94.6%) of frequent visits to gay venues to meet sexual partners and high alcohol use (46.1%). The other two clusters scored lower on high risk sexual behaviour., Conclusion: Factors other than sexual behaviour appear to reinforce the vulnerability to STIs and HIV of some MSM in this study, suggesting a syndemic of STIs, HIV and other adverse conditions. More research is needed to better understand the drivers of the STI/HIV epidemic in Portuguese MSM, using a concept that goes beyond risk behaviour, to develop effective combination prevention interventions., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background/introduction: In England, people of Black Caribbean (BC) ethnicity are disproportionately affected by sexually transmitted infections (STIs), but it is unclear whether this varies by their region of birth., Aim(s)/objectives: To examine differences in STI diagnoses among UK- and Caribbean-born BC people., Methods: Data on STI diagnoses in BC people attending specialist sexual health services (SHSs) during 2015 and living in England were obtained from the GUMCAD STI surveillance system, the national surveillance system for STIs in England. Associations between being UK- or Caribbean-born and each of several STI diagnoses were examined, using univariate and multivariable generalised estimated equations logistic regression models adjusted for sexual orientation, place of residence (London vs. non-London), HIV status, area-level deprivation, and STI diagnosis in the last year. All analyses were stratified by age (<25 vs. ≥25 years)., Results: In 2015, 63,568 BC people made 108,881 attendances at specialist SHSs; 81.9% of these attendances were made by UK-born BCs. The median age (years) was 26 for UK-born and 35 for Caribbean-born people (p≤0.001). Chlamydia, gonorrhoea and non-specific genital infection (NSGI) were the most commonly diagnosed STIs among UK- (5.8%, 2.1% and 2.8%) and Caribbean-born people (4.5%, 1.7% and 3.5%) respectively. Among BCs aged under 25, no significant differences in STIs were found between UK- and Caribbean-born people. Among BCs aged ≥25, compared to Caribbean-born people, those who were UK-born were more likely to be diagnosed with chlamydia (AOR 1.15 [95%C.I. 1.04-1.27]); gonorrhoea (AOR 1.23 [95%C.I. 1.06-1.45]) and genital herpes (AOR 1.23 [95% C.I. 1.10-1.56]) and less likely to be diagnosed with NSGI (AOR 0.89 [95% C.I. 0.80-0.99]) and Trichomoniasis (AOR 0.84 [95% C.I. 0.71-0.99])., Discussion/conclusion: STI diagnoses in BC people aged ≥25 attending specialist SHSs vary by region of birth. Country of birth may have an influence on social and sexual networks and therefore transmission of STIs., Competing Interests: The authors have declared that no competing interests exist.

Objectives: To determine if media coverage of an outbreak of high-level azithromycin-resistant Neisseria gonorrhoeae (HL-AziR) impacted online search interest or was temporally associated with health-seeking behaviours in several English cities., Methods: A descriptive analysis of outbreak-related online media articles and relative search interest (RSI) using Google and an interrupted time series analysis using routine surveillance data from sexual health clinics (SHCs) in England (GUMCAD STI surveillance system). The main outcomes were adjusted incidence rate ratios (IRRs) of weekly attendances, gonorrhoea tests and diagnoses of gonorrhoea or 'any STI' in selected cities after media coverage of the outbreak in 2015 and 2016., Results: RSI for outbreak-related terms peaked during media coverage in September 2015 with smaller peaks coinciding with subsequent coverage. The greatest increase in RSI was in Leeds, which coincided with a 63% rise (n=1932; IRR 1.26, 95% CI 1.12 to 1.43) in SHC attendances by women. There was only a 7% (n=1358; IRR 1.01, 95% CI 0.91 to 1.11) increase in attendances by men. Modest increases in outcomes occurred in four other cities with a high RSI. There was no evidence of increases in outcomes in cities, other than Leeds, after subsequent media coverage of the outbreak., Conclusions: National and local media coverage of the HL-AziR outbreak coincided with peak RSI for related terms, and a transient increase in attendances, gonorrhoea tests and diagnoses of gonorrhoea or 'any STI' in some cities with a high RSI. Our analysis demonstrates the potential for media coverage to influence health-seeking behaviours during high-profile STI outbreaks., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.)