Prevalence In Population Research Articles

Echocardiographic Assessment of Mitral Valve Prolapse Prevalence before and after the Year 1999: A Systematic Review.

Background: Over the last five decades, a fair number of echocardiographic studies have evaluated the prevalence of mitral valve prolapse (MVP) in various cohorts of individuals, including heterogeneous study populations. The present systematic review has been primarily designed to summarize the main findings of these studies and to estimate the overall MVP prevalence in the general community. Methods: All echocardiographic studies assessing the MVP prevalence in various cohorts of individuals, selected from PubMed and EMBASE databases, were included. There was no limitation of time period. The risk of bias was assessed by using the National Institutes of Health (NIH) Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies. Results: The full texts of 21 studies with 1354 MVP individuals out of 63,723 participants were analyzed. The overall pooled prevalence of MVP was 4.9% (range of 0.6-21%). When dividing the studies in two groups according to the echocardiographic criteria used for MVP diagnosis (less specific old criteria or more specific new criteria, respectively), the estimated pooled prevalence of MVP was 7.8% (range of 2-21%) for the older studies (performed between 1976 and 1998) and 2.2% (range of 0.6-4.2%) for the more recent ones (conducted between 1999 and 2021). Potential selection bias, hospital- or referral-based series, and the use of less specific echocardiographic criteria for MVP diagnosis have been indicated as the main reasons for the higher MVP prevalence detected by the older studies. MVP was commonly associated with a narrow antero-posterior thoracic diameter, isolated ventricular premature beats and nonspecific ST-T-wave abnormalities on a resting electrocardiogram, mild-to-moderate mitral regurgitation (MR), the reduced probability of obstructive coronary artery disease, and a low frequency of serious complications, such as severe MR, infective endocarditis, heart failure, stroke, and atrial fibrillation. Conclusions: MVP has a low prevalence in the general population, regardless of age, gender, and ethnicity, and is associated with a good outcome.

A New Species of Heligmonellidae (Nematoda) in Euryoryzomys russatus (Rodentia: Sigmodontinae) in the Atlantic Forest of Northeast Brazil.

The genus Stilestrongylus (Freitas, Lent, and Almeida, 1937) is defined by having 24 or more subequal cuticular ridges, an asymmetrical caudal bursa, and a hypertrophied genital cone. It comprises 25 recognized species, mainly parasitizing cricetids, and shows significant diversification linked to the evolution of its hosts. Stilestrongylus magnumspiculum n. sp. is a newly described nematode species identified in the small intestine of the rodent Euryoryzomys russatus (Cricetidae, Sigmodontinae) from the Atlantic Forest of Northeast Brazil. This study aims to characterize the new species and its prevalence in host populations. A total of 43 Euryoryzomys russatus individuals were collected and analyzed for parasitic infections. Morphological features of Stilestrongylus magnumspiculum n. sp. were examined, focusing on the number of ridges, synlophe characteristics, caudal bursa type, lobe hypertrophy, and the spicule length to body length ratio. The new species exhibited a prevalence of 21% among the sampled hosts. Distinctive morphological features were observed, including:the synlophe structure exhibited specific ridge patterns that differentiate it from other species within the genus; the caudal bursa was identified as a type 2-2-1; hypertrophy of the right lobe was observed, indicating notable morphological adaptation; rays 4 and 5 were found to be equivalent in size and diverged at the distal end; the spicule length to body length ratio (SpL/BL) was measured at 30-36%, representing the largest ratio recorded for the genus. In comparison, other Stilestrongylus species displayed the following ratios: S. rolandoi (21-33%), S. lanfrediae (25-29%), S. kaaguyporai (20-24%), S. inexpectatus (20-23%), and S. stilesi (26-28%). This report presents Stilestrongylus magnumspiculum n. sp. as a new species of nematode, contributing to the diversity of the genus Stilestrongylus. The findings underscore the importance of studying host-parasite interactions within the Atlantic Forest ecosystem and provide a basis for future ecological and parasitological research.

Improving obstructive sleep apnea competency of primary care clinicians through online education

ABSTRACT Background: Obstructive sleep apnea (OSA) is an often overlooked, widespread disease and a public health concern. Evidence-based practice guidelines do not exist to guide primary care clinicians' OSA screening practices. Clinicians must be competent in OSA; however, clinicians lack competency about this disease. Local problem: Elevated rates of undiagnosed OSA potentially exist in two rural and one suburban counties in Kansas, as indicated by the increased weight and elevated chronic disease prevalence in these counties' populations. Methods: A one-cohort, pretest–posttest, quasi-experimental design was used for this quality-improvement project implemented over 11 weeks. Clinicians' competencies on OSA were measured before and after the intervention using the Obstructive Sleep Apnea Knowledge and Attitude Survey. Intervention: A brief educational video on OSA was developed for this project. Definition, risk factors and complications, screening methods, definitive diagnosis, and treatment options were covered in this video. Results: Participants (N = 14) showed improved OSA competency after watching the educational video. Participants improved OSA competency after watching the interventional video (M = 16.3, SE = 0.194) versus preintervention (M = 14.2, SE = 0.318). Participants also improved OSA attitude scores postintervention. Conclusion: Primary care clinician OSA competency scores improved after engaging in a brief educational video intervention when measured using the OSA knowledge and attitude survey. Practicing clinicians can benefit from participating in education about the disease.

Reducing disparities in the care of atopic dermatitis.

Atopic Dermatitis (AD) is associated with a number of published disparities, including those related to self-identified racial/ethnic populations. Black/African American populations in the United States experience greater AD prevalence, severity, and persistence compared to other demographic groups, such as those who self-identify as White. There is consistent evidence that healthcare, environmental, and socioeconomic factors affect the prevalence, severity, and/or persistence of AD. Additionally, because of institutional and systemic racism, these same risk factors are more prevalent in racial and ethnic minority populations. Herein, we review the underlying causes of racial/ethnic disparities in AD and potential strategies to improve AD diagnosis and disease control.

Is unassisted smoking cessation choice and success associated with high mental stress? Evidence from six cities in China.

Unassisted smoking cessation (USC) is a method of quitting smoking driven by self-determination without the support of professional cessation assistance. This approach may contribute to a potential decrease in overall smoking prevalence within a population. However, the factors potentially influencing smokers' choice of USC and their success remain unclear. This study examined the associations between mental stress and USC choice and success. Between June and September 2016, a cross-sectional multistage sampling design was used to interview subjects from six selected cities in China. A standardized questionnaire was used to obtain information on sociodemographic characteristics, USC choice, and success. Mental stress was measured by the Chinese version of the Perceived Stress Scale (CPSS). Multivariate logistic regression models were used to examine the association between mental stress, USC choice, and success, with adjustments for relevant covariates. Among 1647 smokers who had attempted or had quit, 91.6% (95% CI: 90.9-97.5) reported that they had done so without assistance, and 42.1% (95% CI: 32.4-61.3) of them achieved abstinence. While mental stress was not significantly associated with USC success (χ2=2.02, p=0.1547), smokers experiencing high levels of mental stress were 0.34 times less likely (95% CI: 0.23-0.50) to attempt USC compared to those with low levels of mental stress. Moreover, a significant negative linear association was observed between varying levels of mental stress and the prevalence of USC use (R2=0.910, p<0.001). The study findings should help to understand USC and its role in reducing smoking prevalence in the Chinese population. These findings can inform future tobacco control programs and policies in China. Government and social agencies should prioritize understanding smokers' preferences for USC and providing USC services to promote success within the population.

Windswept deformity of the knee: prevalence and predictive factors in osteoarthritic and healthy populations.

This study examined windswept deformity (WSD) of the knee, comparing prevalence and contributing factors in healthy and osteoarthritic (OA) cohorts. A case-control radiological study was undertaken comparing 500 healthy knees (250 adults) with a consecutive sample of 710 OA knees (355 adults) undergoing bilateral total knee arthroplasty. The mechanical hip-knee-ankle angle (mHKA), medial proximal tibial angle (MPTA), and lateral distal femoral angle (LDFA) were determined for each knee, and the arithmetic hip-knee-ankle angle (aHKA), joint line obliquity, and Coronal Plane Alignment of the Knee (CPAK) types were calculated. WSD was defined as a varus mHKA of < -2° in one limb and a valgus mHKA of > 2° in the contralateral limb. The primary outcome was the proportional difference in WSD prevalence between healthy and OA groups. Secondary outcomes were the proportional difference in WSD prevalence between constitutional varus and valgus CPAK types, and to explore associations between predefined variables and WSD within the OA group. WSD was more prevalent in the OA group compared to the healthy group (7.9% vs 0.4%; p < 0.001, relative risk (RR) 19.8). There was a significant difference in means and variance between the mHKA of the healthy and OA groups (mean -1.3° (SD 2.3°) vs mean -3.8°(SD 6.6°) respectively; p < 0.001). No significant differences existed in MPTA and LDFA between the groups, with a minimal difference in aHKA (mean -0.9° healthy vs -0.5° OA; p < 0.001). Backwards logistic regression identified meniscectomy, rheumatoid arthritis, and osteotomy as predictors of WSD (odds ratio (OR) 4.1 (95% CI 1.7 to 10.0), p = 0.002; OR 11.9 (95% CI 1.3 to 89.3); p = 0.016; OR 41.6 (95% CI 5.4 to 432.9), p ≤ 0.001, respectively). This study found a 20-fold greater prevalence of WSD in OA populations. The development of WSD is associated with meniscectomy, rheumatoid arthritis, and osteotomy. These findings support WSD being mostly an acquired condition following skeletal maturity.

A machine learning algorithm for the detection of paroxysmal nocturnal haemoglobinuria (PNH) in UK primary care electronic health records

BackgroundParoxysmal Nocturnal Haemoglobinuria (PNH) is an ultra-rare, acquired disorder that is challenging to diagnose due to varied symptoms, heterogeneous patient presentations, and lack of awareness among healthcare professionals. This leads to frequent misdiagnosis and delays in diagnosis. This study evaluated the feasibility of a machine learning model to identify undiagnosed PNH patients using structured electronic health records.MethodsThe study used data from the Optimum Patient Care Research Database, which contains electronic health records from general practitioner (GP) practices across the United Kingdom. PNH patients were identified by the presence, and control patients by the absence of a PNH diagnosis code in their records. Clinical features (symptoms, diagnoses, healthcare utilisation) from 131 patients in the PNH group and 593,838 patients in the control group, were inputted to a tree-based XGBoost machine learning model to classify patients as either “positive” or “negative” for PNH suspicion. The algorithm was finalised after additional exclusions and inclusions applied. Performance was assessed using positive predictive value (PPV), recall and specificity. As the sample used to develop the algorithm was not representative of the true population prevalence, PPV was additionally adjusted to reflect performance in the wider population.ResultsOf all the patients in the PNH group, 27% were classified as positive (recall). 99.99% of the control group were classified as negative (specificity). Of all the patients classified as positive, 60.4% had a diagnosis of PNH in their record (PPV). The PPV adjusted for the population prevalence of PNH was 19.59 suggesting nearly 1 in 5 patients flagged may warrant further PNH investigation. The key clinical features in the model were aplastic anaemia, pancytopenia, haemolytic anaemia, myelodysplastic syndrome, and Budd-Chiari syndrome.ConclusionThis is the first study to combine clinical understanding of PNH with machine learning, demonstrating the ability to discriminate between PNH and control patients in retrospective electronic health records. With further investigation and validation, this algorithm could be deployed on live health data, potentially leading to earlier diagnosis for patients who currently experience long diagnostic delays or remain undiagnosed.

Global and regional prediction of heterakidosis population prevalence in extensive backyard chickens in low-income and middle-income countries

Extensive backyard chickens are one of the most common production systems in low-income and middle-income countries (LMICs). In this production system, chickens are exposed to infectious forms of parasites as a result of the outdoor access and scavenging behaviour. Heterakis gallinarum is one of the most common nematode parasites present in the environment, and estimating its global and regional prevalence is essential for attributing the economic losses in extensive backyard chickens. The objective of this study is to predict the prevalence of heterakidosis in extensive backyard chickens at global and regional levels in LMICs using regression imputation methods. A binomial random effect model was developed using empirical data on heterakidosis prevalence and climatic factors as main predictors. Prevalence data were then imputed in all regions based on the regression model. Global and country prevalence were estimated based on regional predictions and their beta distributions. Minimum precipitation, minimum temperature and maximum temperature were selected as significant predictors. The population prevalence of heterakidosis was 0.24 (0.19–0.29). Countries with continental and dry climates had a higher mean prevalence, whereas countries with tropical climates had a lower mean prevalence of heterakidosis. As more empirical data on heterakidosis prevalence become available, this model and predictions should be redefined and updated to capture a more representative association and increase the accuracy of the predictions. The results of this study can be used to attribute the economic losses of extensive backyard chickens, taking into account a holistic approach as promoted by the GBADs programme and therefore, to identify which diseases are more costly to backyard farmers. Furthermore, results can be also served as a proxy for the risk of histomoniasis in extensive backyard chickens.

Treatment of myasthenia gravis in france: A retrospective claims database study (STAMINA).

This study aimed to describe treatment patterns in patients with myasthenia gravis (MG) in France. A retrospective cohort analysis was performed using the French National Health Data System (SNDS) database between 2008 and 2019. MG patients were identified using ICD-10 codes during hospitalization and/or long-term disease. We defined two adult subpopulations: a prevalent MG population of patients alive on 31/12/2019and an incident population of newly identified patients with MG in 2012 and 2013. Among the 22,079 prevalent patients, 53.1% (n = 11,498) received at least one chronic MG treatment in 2019. Among these treated patients, 52.5% received Acetylcholinesterase inhibitors (AChEIs) only, 10.2% were treated with corticosteroids (CS) ± AChEIs, 7.3% with non-steroidal immunosuppressive treatments (NSIST) and CS, 24.2% with NSIST w/o CS, and 5.8% received immunoglobulin and/or plasma exchange. Among the 2,661 incident patients, 84.6% received at least one chronic MG treatment over the 6-year follow-up period, and among them, 79.0% had at least one treatment category change. During the first semester of follow-up, 28.1% of patients were treated with an immunomodulator (CS, NSIST). Among patients starting treatment with immunomodulator, the proportion of those treated with CS decreased from 35.3% at initiation to 10.9% at 6years. This study illustrates the complexity of MG management. Significant CS sparing was observed over time. The frequent treatment changes especially in patients with an immunomodulator treatment reflect the high variability of the disease severity. The need for personalised treatment approaches in the management of MG to reduce the burden of disease remains.

Population dynamics of HIV drug resistance during treatment scale-up in Uganda: a population-based longitudinal study.

Clinical studies have reported rising pre-treatment HIV drug resistance during antiretroviral treatment (ART) scale-up in Africa, but representative data are limited. We estimated population-level drug resistance trends during ART expansion in Uganda. We analyzed data from the population-based open Rakai Community Cohort Study conducted at agrarian, trading, and fishing communities in southern Uganda between 2012 and 2019. Consenting participants aged 15-49 were HIV tested and completed questionnaires. Persons living with HIV (PLHIV) provided samples for viral load quantification and virus deep-sequencing. Sequence data were used to predict resistance. Population prevalence of class-specific resistance and resistance-conferring substitutions were estimated using robust log-Poisson regression. Data from 93,622 participant-visits, including 4,702 deep-sequencing measurements, showed that the prevalence of NNRTI resistance among pre-treatment viremic PLHIV doubled between 2012 and 2017 (PR:1.98, 95%CI:1.34-2.91), rising to 9.61% (7.27-12.7%). The overall population prevalence of pre-treatment viremic NNRTI and NRTI resistance among all participants decreased during the same period, reaching 0.25% (0.18% - 0.33%) and 0.05% (0.02% - 0.10%), respectively ( p- values for trend = 0.00015, 0.002), coincident with increasing treatment coverage and viral suppression. By the final survey, population prevalence of resistance contributed by treatment-experienced PLHIV exceeded that from pre-treatment PLHIV, with NNRTI resistance at 0.54% (0.44%-0.66%) and NRTI resistance at 0.42% (0.33% - 0.53%). Overall, NNRTI and NRTI resistance was predominantly attributable to rtK103N and rtM184V. While 10.52% (7.97%-13.87%) and 9.95% (6.41%-15.43%) of viremic pre-treatment and treatment-experienced PLHIV harbored the inT97A mutation, no major dolutegravir resistance mutations were observed. Despite rising NNRTI resistance among pre-treatment PLHIV, overall population prevalence of pre-treatment resistance decreased due to treatment uptake. Most NNRTI and NRTI resistance is now contributed by treatment-experienced PLHIV. The high prevalence of mutations conferring resistance to components of current first-line ART regimens among PLHIV with viremia is potentially concerning. National Institutes of Health and the Gates Foundation. Evidence before the study: We searched PubMed for studies matching the keywords "hiv" "resistance" "longitudinal" "cohort" "population" published since 2004 (the beginning of antiretroviral therapy (ART) availability in sub-Saharan Africa) and identified 50 studies. We excluded 34 studies not based in sub-Saharan Africa, five studies primarily concerned with infection with other pathogens (e.g. HBV, M. tuberculosis ), two studies concerned with insulin resistance, one sequencing-methods paper, and one paper concerned with host susceptibility to HIV infection. The remaining seven studies were not population-based meaning that the study population was not all persons but e.g. people living with HIV enrolled in care at a given clinic. Population-based cohort are essential for monitoring HIV drug resistance in both treated and untreated individuals, including those people who may go undetected in clinical settings, capturing evolutionary dynamics of resistance in real-world conditions. Added value of this study: We estimated the prevalence of drug resistance over five consecutive survey rounds of a population-based open-cohort study in southern Uganda between 2012 and 2019 during a period of intense treatment scale-up. We show that among the entire population regardless of HIV status, 0.8% and 0.5% of individuals harbor viremic resistance to non-nucleoside reverse transcriptase inhibitors (NNRTIs) and nucleoside-reverse transcriptase inhibitors (NRTIs), respectively, of which the majority is dual-class NNRTI/NRTI resistance. Despite a two-fold increase in the prevalence of NNRTI resistance among pre-treatment viremic PLHIV, the overall prevalence of pre-treatment viremic resistance in the entire population decreased by more than 50% due to increased treatment initiation and population viral load suppression. The majority of resistance in recent survey rounds was contributed by treatment-experienced PLHIV. Among treatment-experienced viremic PLHIV, we observe a substantial burden of mutations that confer resistance to the NNRTI and NRTI components of dolutegravir and cabotegravir based regimens e.g. rtM184V (34%) rtY181C (15%), rtG190A (12%), rtK65R (12%), and rtK101E (9.5%). The integrase strand transfer inhibitor (INSTI) resistance mutation inT97A was observed in about a tenth of viremic PLHIV.These results provide the first longitudinal population-based estimates of temporal trends in the prevalence of drug resistance during ART program expansion in a high-burden setting. Further, they provide critical insight into the landscape of prevalent drug resistance substitutions circulating in this population.Implications of all the available evidence: Scale-up of HIV treatment has increased the prevalence of drug resistance mutations among viremic people living with HIV in sub-Saharan Africa. The relatively high prevalence of NNRTI resistance has prompted a recent shift to first-line regimens including dolutegravir (an INSTI) in combination with NRTIs. The high prevalence of mutations conferring resistance to components of current first-line regimens in our population warrants continued monitoring of treatment failures and the prevalence of drug resistance in high burden settings.

Low level of awareness and prevention of hepatitis B among Congolese healthcare workers: urgent need for policy implementation.

The Democratic Republic of Congo (DRC) is a country with many public health challenges, including those related to the prevention and management of viral hepatitis B. Healthcare workers, who are at the frontline of patient care, are particularly at risk of contracting and spreading this virus, especially given its high prevalence in the general population. This paper examines the level of awareness and preventive measures among Congolese healthcare workers. Overall, the data show that health workers are under-immunized and lack formal training in hepatitis B prevention and management. In addition to limited awareness, health facilities are insufficiently involved in the implementation of standardized infection control protocols, the provision of personal protective equipment and routine hepatitis B vaccination programmes. There also appears to be a lack of clear and effective national policies outlining the main axes of infection control targets by 2030. This calls for urgent policy implementation focusing on mandatory vaccination, training, resource availability, adherence to infection control practices and comprehensive post-exposure management.

Concurrent perception of competing predictions: A "split-stimulus effect".

Visual illusions are systematic misperceptions that can help us glean the heuristics with which the brain constructs visual experience. In a recently discovered visual illusion (the "frame effect"), it has been shown that flashing a stimulus inside of a moving frame produces a large misperception of that stimulus's position. Across two experiments, we investigated a novel illusion (the "split stimulus effect") where the symmetrical motion of two overlaid frames produces two simultaneous positional misperceptions of a single stimulus. That is, one stimulus is presented but two are perceived. In both experiments, a single red dot was flashed when the moving frames reversed direction, and participants were asked to report how many dots they saw. Naïve participants sometimes reported seeing two dots when only one was presented, indicating spontaneous perception of the illusion. A Bayesian analysis of the population prevalence of this effect was conducted. The dependence of this effect on the frames' speed, the dot's opacity, spatial attention, as the presence/absence of pre-flash motion ("postdiction") was also investigated, and the features of this illusion were compared to similar motion position illusions within a predictive processing framework. In demonstrating this illusory "splitting" effect, this study is the first to show that it is possible to be simultaneously aware of two opposing perceptual predictions about a single object and provides evidence of the hyperpriors that limit and inform the structure of visual experience.

Beyond the binary female/male sex classification: The impact of (trans)gender on the identification of human remains.

In cases of unidentified deceased persons, sex determination is a routine task in forensic medicine. However, the binary biological sex categories 'female' and 'male' may be challenged if it is not clear whether the information in the missing persons databases refers to the biological sex or the (felt and lived) gender. An umbrella term for people who do not identify with their birth sex (which usually is the biological, chromosomal sex) is 'transgender'. In recent decades, the legal and social situation of transgender people has changed in many countries making it easier to live their felt gender more openly. This development highlights the issue of potential challenges in the postmortem identification of transgender individuals. Serious problems in corresponding cases may be rare-but they must be considered and addressed in forensic practice to minimize the risk of delayed or failed identification. The impact of (trans)gender on the identification of human remains was examined by a narrative literature review under special consideration of the prevalences of transgender identities in general populations and in the group of unidentified deceased; possible actions to avoid problems in the postmortem identification of transgender persons in forensic practice are being proposed. One can assume that 1 of 200 people in the United States, the European Union and comparable societies is transgender with an opposite-sex identification, and 2 to 3 of 100 people live outside the typical female/male binary, with numbers increasing. If legally possible, an increasing number of transgender individuals will change their name and gender in civil registration. Transgender individuals are likely to be overrepresented in suicides and in victims of homicides. Although there are no precise data on the prevalence of transgender individuals in the group of unidentified deceased, the remarkably high reported prevalence in the general population and the over-representation of transgender individuals in suicides and homicides suggest that the topic is relevant to forensic practice. An autopsy does not always provide evidence of transgender identity, for example in skeletal remains. Particularly in unsolved cases, the possibility that an unidentified person may have been transgender should be considered. Knowledge and awareness of forensic practitioners on this topic should be strengthened by research and training. Databases and data reporting should be optimized. Recording in antemortem databases should clearly distinguish between 'biological sex' and 'apparent sex /lived gender identity'. When collecting postmortem data, a clear distinction should be made between "chromosomal sex" and "sex based on morphological findings". CLINICAL TRIAL NUMBER: Not applicable (review article).

An observational pilot study on Sidma kushta in relation to Yakrit &amp; Pliha as moola sthana of Raktavaha srotas

Acharya Charaka has mentioned fifteen koshtanga in the shareera. Koshtanga refers to the viscera. Two koshtanga, Yakrit and Pliha, have been designated as the moola sthana (primary centres of physiological activity) of the Raktavaha srotas (haemopoiesis). The description of Yakrit &amp; Pliha corresponds to the functions of the liver and spleen in contemporary anatomy. Kushta (skin disease) is a Rakta prodashaja vikara (disease caused due to the vitiation of blood). Sidma Kushta, or psoriasis, is one of the eighteen kushta listed in the Samhita. Its prevalence in the Indian population ranges from 0.44 to 2.8%. Recent observational studies have shown that the prevalence of NAFLD [Non-Alcoholic Fatty Liver Disease] (as diagnosed either by imaging or by histology) is remarkably higher in psoriatic patients (occurring in up to 50% of these patients) and suggested the presence of a novel hepato dermal axis. In this pilot study, six individuals diagnosed with sidma kushta were subjected to ultrasonography of the abdomen &amp; selected biochemical assays on the function of the liver, to observe the relationship between sidma kushta and moola sthana of raktavaha srotas.The data was statistically analyzed using Spearman’s correlation coefficient and a correlation was observed between the fatty liver grade and the levels of ALT, AST, and blood ammonia.

8582 THE PREVALENCE OF POLYCYSTIC OVARY SYNDROME IN ADULT WOMEN: THE IMPACT OF GEOGRAPHIC REGION

Abstract Disclosure: M. Amiri: None. S. Hatoum: None. R.P. Buyalos: None. A. Sheidaei: None. R. Azziz: Consulting Fee; Self; Spruce Biosciences, May Health, Core Access Surgical Technologies, Acacia Bio, Fortress Biotech, and Rani Therapeutics. Stock Owner; Self; Martin Imaging. Background: Polycystic ovary syndrome (PCOS) is a common hormonal disorder that affects women of reproductive age and is associated with various health complications. The reported prevalence of PCOS varies widely. However, variations in PCOS prevalence by geographic region are unclear. Objectives: This systematic review and meta-analysis aimed to compare PCOS prevalence in adults across World Health Organization (WHO) regions. Materials and methods: A search of PubMed and Embase was conducted for studies on PCOS prevalence in unselected populations published from inception to July 2023 using various diagnostic criteria. Studies were categorized according to: a) PCOS criteria (NIH 1990 [PCOS phenotypes A&amp;B], AE-PCOS 2006 [PCOS phenotypes A-C], Rotterdam 2003 [PCOS phenotypes A-D], and ‘other/self-reported’ criteria); b) subject assessment type (direct assessment, survey/indirect assessment, or mixed assessment); and c) study quality, assessed using the PCOS Epidemiology and Phenotype (PEP) quality assessment tool. Meta-analyses were performed using fixed-effects or random-effects models depending on the heterogeneity among the studies. Publication bias was assessed using the Egger’s regression test and funnel plots. Subgroup analyses were conducted based on PCOS criteria, assessment types, study quality, and WHO region. Results: Of 6,644 records, 50 studies with including a total of 70,146 adult women (age ≥18 years) were included. The overall pooled prevalence of PCOS was 9.7% (95% CI: 8.25, 11.38) with a pooled PCOS prevalence by criteria of NIH 7.7% (95% CI: 6, 9.83), Rotterdam 11.83% (95% CI: 9.15, 15.17), AE-PCOS 11.48% (95% CI: 7.5, 17.18), and other/self-report 10.05% (95% CI: 6.63, 14.96). High-quality studies reported lower prevalences for Rotterdam and NIH criteria than low-qualities (6.99% vs 10.07% for NIH and 11.07% vs 20.97% for Rotterdam), with all studies using AE-PCOS being high-quality and all studies using other/self-report criteria being low-quality. Among high-quality studies using direct/mixed assessments, PCOS prevalence by NIH was highest in Western Pacific Region (8.19%) and lowest in Europe (6.47%), whereas by Rotterdam, it was highest in Europe (21.30%) and lowest in Western Pacific Region (7.67%). We also observed that highest PCOS prevalence based on AE-PCOS criteria was in Europe (16.09%) and lowest in Western Pacific Region (7.43%). Publication bias was not significant (Egger’s coefficient = 1.2, 95% CI: -1.49, 3.9, p = 0.38), and funnel plot showed a nearly symmetrical distribution of studies around the estimated effect size. Conclusions: This meta-analysis revealed that the reported PCOS prevalence in adults varies widely by WHO geographic region. Study quality, assessment type and diagnostic criteria for PCOS impact the assessment, with low-quality studies overestimating PCOS prevalence. Presentation: 6/2/2024

Ocular Motility Disorders in Pathologic Myopia

Myopia describes a refractive condition of the eye in which light rays are focused in front of the retina and is typically associated with axial elongation. The prevalence of myopia ranges from 0.8% to 75% in various population surveys. It has the highest prevalence in Asian populations. Myopia is associated with an increased risk of cataracts, glaucoma, macular degeneration, choroidal neovascularization, peripheral retinal degeneration and retinal detachment. Myopia may also be associated with abnormal ocular mobility. Strabismus associated with myopia can present in a variety of ways. In this review article, we will discuss the issues related to ocular motility disorders in pathologic myopic patients known as myopic strabismus fixus.

12351 Real World Performance of the Afirma Xpression Atlas in Bethesda V and Vi Thyroid Nodules: A Private Practice Experience

Abstract Disclosure: M.S. Tkach: None. E. Coughlin: None. A. Pinero-Pilona: None. Fine Needle Aspiration (FNA) is a cornerstone of the diagnosis of thyroid cancer. The Bethesda System for Reporting Thyroid Cytopathology (BS-TCP), developed in 2010, and genomic sequencing classifiers (GSC) now allow clinicians to objectively identify the risk of malignancy of thyroid nodules (“TN”) prior to surgical interventions. For further characterization, the Afirma Xpression Atlas (XA) was created and launched in May 2018, utilizing RNA sequencing to evaluate fusions and variants. As of 2023, the Afirma XA panel includes 905 genomic variants and 235 fusions from 593 genes. Post-validation studies for the Afirma XA have focused on large academic centers, but applicability or extrapolation to smaller endocrinology practices is less clear, potentially due to different patient population and thyroid cancer prevalence. This study was designed to analyze and measure the performance of the Afirma XA in BS-TCP V and VI TN classified as GSC suspicious for malignancy in a small endocrinology practice. We conducted a retrospective cohort analysis comparing all BS-TCP V and VI TN with their respective final surgical pathology results between June 2018 and December 2023. 76 TN meeting the criteria for BS-TCP V or VI classification were identified. We excluded any TN (12 total) for which pathology data was unavailable; reasons ranged from lack of patient follow-up to patient's death with no autopsy available. Forty-seven thyroid TN were therefore included, and the BS-TCP VI category was the predominant cytopathology discovered, representing 78.7% of the TN in this group. Afirma XA was able to identify genomic alterations in 78.7% of all included TN (thus 78.7% is its sensitivity). Sensitivity of XA was found to be 70% in BS-TCP V (n=10) and 81.1% in BS-TCP VI (n=37). 83% of the analyzed TN were from female patients and 17% were from male patients; there was no statistically significant difference between XA frequency in TN from male vs. female patients. 100% of all BS-TCP V and VI TN (n=47) as determined by the cytopathologist were associated with cancer on pathology; thus, the sensitivity of the cytopathology itself is 100%, and positive predictive value of XA in both groups was 100%. Age and nodule size were not significantly associated with XA presence or absence overall. XA was overwhelmingly comprised of BRAF :p:V600E c.1799T&amp;gt;A mutations: 70.2% of of XA findings showed this mutation (50% in V and 75.6% in VI). Our percentage of XA on BS-TCP V and VI nodules reflects similarity to prior large studies in academic centers. Based on this data, we conclude that XA is a valuable tool for high-risk TN classification and treatment guidance; it can both aid in surgical planning and determine options for potential pharmacotherapy. We conclude that in our study, the relation between XA and cytopathology in BS-TCP V and VI nodules correlates well with data from large academic center studies, even in a small private practice. Presentation: 6/3/2024

6809 Natural History Of Classic Congenital Adrenal Hyperplasia: Results From Pediatric And Adult Patients In The CAHtalog Registry

Abstract Disclosure: P.C. White: Consulting Fee; Self; Neurocrine Biosciences, Inc.. Research Investigator; Self; Neurocrine Biosciences, Inc. G.P. Sen: Employee; Self; Neurocrine Biosciences, Inc. F. Tang: Employee; Self; Cytel. J. Chen: Employee; Self; PicnicHealth. K. Lin-Su: Advisory Board Member; Self; CARES Foundation. D. Matos: Employee; Self; CARES Foundation. H. Cheng: Employee; Self; Neurocrine Biosciences, Inc. E. Roberts: Employee; Self; Neurocrine Biosciences, Inc. J.L. Chan: Employee; Self; Neurocrine Biosciences, Inc. G.S. Jeha: Employee; Self; Neurocrine Biosciences, Inc.. Introduction: Patients with congenital adrenal hyperplasia (CAH) are exposed to excess androgens and glucocorticoids (GC), which can affect growth and lead to obesity and other metabolic complications. CAHtalog is an active US-based CAH registry developed in partnership with CARES Foundation on the PicnicHealth platform to abstract retrospective and prospective medical record data. This study reports auxological and comorbidity data for pediatric and adult patients in the CAHtalog registry. Methods: All available medical records for consented adult and pediatric patients were collected. Data were abstracted and structured into a de-identified dataset. CAHtalog data available as of October 2023 were included for analysis. Auxological data were compared to the 2000 CDC growth data. Changes in body mass index (BMI) since the first documented measurements were evaluated. Comorbidities were defined based on diagnosis codes (ICD-9/10), laboratory measurements, vital signs, and/or clinical notes. Results: Data from 32 adult (mean age: 35.8±12.7 years; 72% female) and 35 pediatric patients (mean age: 12.7±5.5 years; 51% female) were available. From the first through last medical record with relevant ages (≥18 or &amp;lt;18 years), median follow-up durations were 13 years (adult) and 11 years (pediatric). Pediatric patients had early growth acceleration (that was more pronounced in females) with 95% confidence intervals for height-for-age of 66-99th percentile for females (2-10 years) and 42-87th percentile for males (2-13 years), followed by blunted pubertal growth. The mean peak bone age to chronological age ratio was 1.2±0.2 at age 7 years. The mean BMI-for-age consistently exceeded the 90th percentile in children aged ≥6 years, particularly for females. In adults, obesity (BMI ≥30) was highly prevalent in both females (74%) and males (33%) at all ages (61% overall), exceeding NHANES 2017-2018 general population prevalence (42%). Hypertension (53%), fatigue (47%), acne (36%), hyperlipidemia (33%), and insomnia/sleep disturbances (28%) were common comorbidities. Conclusion: Our CAH data reveal a persistent abnormal growth pattern, characterized by accelerated growth in early childhood and a deceleration in adolescents; early obesity was noted and sustained into adulthood. The anomalous growth trajectory and high rate of comorbidities reiterate the importance of early intervention and targeted disease management in this population. Presentation: 6/2/2024

Assessing the Role of Bacterial Innate and Adaptive Immunity as Barriers to Conjugative Plasmids.

Plasmids are ubiquitous mobile genetic elements, that can be either costly or beneficial for their bacterial host. In response to constant viral threat, bacteria have evolved various immune systems, such as the prevalent restriction modification (innate immunity) and CRISPR-Cas systems (adaptive immunity). At the molecular level, both systems also target plasmids, but the consequences of these interactions for plasmid spread are unclear. Using a modeling approach, we show that restriction modification and CRISPR-Cas are effective as barriers against the spread of costly plasmids, but not against beneficial ones. Consequently, bacteria can profit from the selective advantages that beneficial plasmids confer even in the presence of bacterial immunity. While plasmids that are costly for bacteria may persist in the bacterial population for a certain period, restriction modification and CRISPR-Cas can eventually drive them to extinction. Finally, we demonstrate that the selection pressure imposed by bacterial immunity on costly plasmids can be circumvented through a diversity of escape mechanisms and highlight how plasmid carriage might be common despite bacterial immunity. In summary, the population-level outcome of interactions between plasmids and defense systems in a bacterial population is closely tied to plasmid cost: Beneficial plasmids can persist at high prevalence in bacterial populations despite defense systems, while costly plasmids may face extinction.

Spectrum of Cognitive Impairment in Patients with Multiple Sclerosis

Introduction. Cognitive impairment (CI) is a common manifestation of multiple sclerosis (MS), which significantly affects patients’ daily life and professional activity. Despite the development of methods to screen MS patients for CI, data on its prevalence in the Russian population are still lacking. Aim: to comprehensively assess cognitive functions in patients with different types of MS. Materials and methods. The study included MS patients who did not have any other possible causes of CI and no diseases or conditions that confounded this assessment. CI was determined using the Brief International Cognitive Assessment in Multiple Sclerosis (BICAMS) test battery and the Stroop test as a decrease in the scores below the mean by at least 1.5 standard deviations. CI was subjectively assessed using the Perceived Deficit Questionnaire; fatigue was subjectively assessed using the Modified Fatigue Impact Scale (MFIS). The Mann–Whitney test and Fisher’s exact test were used for comparison, and the Spearman test was used to evaluate correlations. Results. We evaluated 77 MS patients (30 men; age 40 [30; 48] years; 47 with relapsing-remitting MS, 30 with progressive MS). CI incidence was 23.4% in patients with relapsing-remitting MS and 77% in patients with progressive MS, while multi-domain CI was statistically significantly more common in patients with progressive MS. Impairment of processing speed was the most common. Patients with relapsing-remitting MS and CI were statistically significantly older and had longer disease duration than those without CI. There was a statistically significant correlation of subjective CI severity with MFIS scores but not with testing results. Conclusion. CI incidence in MS patients was relatively high with greater severity and involvement of more domains in patients with progressive MS. No correlation was found between subjective and objective CI assessment results, which may suggest that patients underestimated their deficit.