The prevalence of DICER1 pathogenic variation in population databases.

The DICER1 syndrome is associated with a variety of rare benign and malignant tumors, including pleuropulmonary blastoma (PPB), cystic nephroma (CN) and Sertoli-Leydig cell tumor (SLCT). The prevalence and penetrance of pathogenic DICER1 variation in the general population is unknown. We examined three publicly-available germline whole exome sequence datasets: Exome Aggregation Consortium (ExAC), 1,000 Genomes (1,000 G) and the Exome Sequencing Project (ESP). To avoid over-estimation of pathogenic DICER1 variation from cancer-associated exomes, we excluded The Cancer Genome Atlas (TCGA) variants from ExAC. All datasets were annotated with snpEff and ANNOVAR and variants were classified into four categories: likely benign (LB), unknown significance (VUS), likely pathogenic (LP), or pathogenic (P). The prevalence of DICER1 P/LP variants was 1:870 to 1:2,529 in ExAC-nonTCGA (53,105 exomes) estimated by metaSVM and REVEL/CADD, respectively. A more stringent prevalence calculation considering only loss-of-function and previously-published pathogenic variants detected in ExAC-nonTCGA, yielded a prevalence of 1:10,600. Despite the rarity of most DICER1 syndrome tumors, pathogenic DICER1 variation is more common than expected. If confirmed, these findings may inform future sequencing-based newborn screening programs for PPB, CN and SLCT, in which early detection improves prognosis.

Worldwide prevalence of adverse pregnancy outcomes associated with in vitro fertilization/intracytoplasmic sperm injection among multiple births: a systematic review and meta-analysis based on cohort studies.

PURPOSE: To perform a systematic review and meta-analysis of reported estimates of adverse pregnancy outcomes among multiple births conceived with in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI). METHODS: PubMed, Google Scholar, Cochrane Libraries and Chinese databases were searched through May 2016 for cohort studies assessing adverse pregnancy outcomes associated with IVF/ICSI multiple births. Random-effects meta-analyses were used to calculate pooled estimates of adverse pregnancy outcomes and, where appropriate, heterogeneity was explored in group-specific analyses. RESULTS: Sixty-four studies, with 60,210 IVF/ICSI multiple births and 146,737 spontaneously conceived multiple births, were selected for analysis. Among IVF/ICSI multiple births, the pooled estimates were 51.5% [95% confidence interval (CI): 48.7-54.3] for preterm birth, 12.1% (95% CI: 10.4-14.1) for very preterm birth, 49.8% (95% CI: 47.6-52.0) for low birth weight, 8.4% (95% CI: 7.1-9.9) for very low birth weight, 16.2% (95% CI: 12.9-20.1) for small for gestational age, 3.0% (95% CI: 2.5-3.7) for perinatal mortality and 4.7% (95% CI: 4.0-5.6) for congenital malformations. When the data were restricted to twins, the pooled estimates also showed a high prevalence of adverse outcomes. There was a similar prevalence of poor outcomes among multiple births conceived with IVF/ICSI and naturally (all P ≥ 0.0792). Significant differences in different continents, countries, and income groups were found. CONCLUSIONS: The IVF/ICSI multiple pregnancies have a high prevalence of adverse pregnancy outcomes. However, population-wide prospective adverse outcomes registries covering the entire world population for IVF/ICSI pregnancies are needed to determine the exact perinatal prevalence.

Worldwide prevalence of adverse pregnancy outcomes among singleton pregnancies after in vitro fertilization/intracytoplasmic sperm injection: a systematic review and meta-analysis.

PURPOSE: The worldwide prevalence of adverse pregnancy outcomes (APOs) in singleton pregnancies after in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) is suggested to vary; however, a complete overview is missing. The aim of this review is to estimate the worldwide prevalence of APOs associated with IVF/ICSI singleton pregnancies. METHODS: PubMed, Google Scholar, Cochrane Libraries, and Chinese databases were searched for studies assessing APOs among IVF/ICSI singleton births through March 2016. The prevalence estimates were summarized and analyzed by meta-analysis. RESULTS: Fifty-two cohort studies, with 181,741 IVF/ICSI singleton births and 4,636,508 spontaneously conceived singleton births, were selected for analysis. Among IVF/ICSI singleton pregnancies, pooled estimates were 10.9% [95% confidence interval (CI) 10.0-11.8] for preterm birth, 2.4% (95% CI 1.9-3.0) for very preterm birth, 8.7% (95% CI 7.4-10.2) for low birth weight, 2.0% (95% CI 1.5-2.6) for very low birth weight, 7.1% (95% CI 5.5-9.2) for small for gestational age, 1.1% (95% CI 0.9-1.3) for perinatal mortality, and 5.7% (95% CI 4.7-6.9) for congenital malformations. The IVF/ICSI singleton pregnancies have higher prevalence of APOs compared with those conceived naturally (all P = 0.000). Significant differences in different continents, countries, income groups, and type of assisted conception were found. CONCLUSIONS: The IVF/ICSI singleton pregnancies are at a higher prevalence of adverse perinatal outcomes compared with those conceived naturally. Important geographical differences were found. Yet, population-wide prospective APO registries covering the entire world population for IVF/ICSI pregnancies are needed to determine the exact perinatal prevalence.

Prevalence and Clinical Profile of Adults with ADHD Attending a Tertiary Care Hospital for Five Years.

(1) Objectives: This study aimed to assess the 5-year prevalence and clinical profile of attention deficit hyperactive disorder (ADHD) among adult patients seeking care in a tertiary care hospital in Oman. (2) Methods: The data were analysed using descriptive and inferential statistics and standardised prevalence estimates were calculated. (3) Results: Of the 39,881 hospital visits, 1.77% were made by adults with ADHD. This is equivalent to 17.8 visits per 1000 outpatients. The year 2021 saw the highest prevalence among the five years considered, while 2020 had the lowest prevalence. Although the age distribution indicated that the age group 'under 20' had the highest prevalence, the gender distribution showed that ADHD was more common among adult men. Among the various subtypes of ADHD, inattention was the most common. (4) Conclusions: This study specifically compared the prevalence and associated factors between an adult cohort with ADHD and those other psychiatric clinic attendees during the same period. The study offers important information on the prevalence and clinical profile of adults with ADHD in the population under consideration.

Estimating the population-level prevalence of antimicrobial-resistant enteric bacteria from latrine samples.

BACKGROUND: Logistical and economic barriers hamper community-level surveillance for antimicrobial-resistant bacteria in low-income countries. Latrines are commonly used in these settings and offer a low-cost source of surveillance samples. It is unclear, however, whether antimicrobial resistance prevalence estimates from latrine samples reflect estimates generated from randomly sampled people. METHODS: We compared the prevalence of antimicrobial-resistant enteric bacteria from stool samples of people residing in randomly selected households within Kibera-an informal urban settlement in Kenya-to estimates from latrine samples within the same community. Fecal samples were collected between November 2015 and Jan 2016. Presumptive Escherichia coli isolates were collected from each household stool sample (n = 24) and each latrine sample (n = 48), resulting in 8935 and 8210 isolates, respectively. Isolates were tested for resistance to nine antibiotics using the replica-plating technique. Correlation- and Kolmogorov-Smirnov (K-S) tests were used to compare results. RESULTS: Overall, the prevalence values obtained from latrine samples closely reflected those from stool samples, particularly for low-prevalence (< 15%) resistance phenotypes. Similarly, the distribution of resistance phenotypes was similar between latrine and household samples (r > 0.6; K-S p-values > 0.05). CONCLUSIONS: Although latrine samples did not perfectly estimate household antimicrobial resistance prevalence, they were highly correlated and thus could be employed as low-cost samples to monitor trends in antimicrobial resistance, detect the emergence of new resistance phenotypes and assess the impact of community interventions.

Deciphering patterns of respiratory medication use in Ireland to target interventions appropriately: a focus on COPD.

BACKGROUND: Ireland has the highest rates of overnight hospitalisations for COPD in the OECD, yet lacks estimates of the prevalence of this disease or its pharmacological management. We aimed to estimate the age and sex-specific prevalence of symptomatic COPD and to identify patterns of respiratory medication use to inform interventions to improve pharmacotherapy in this condition. METHODS: We used the national pharmacy claims database, with data on a publically insured cohort in 2016. We restricted to those aged ≥ 45 years with full eligibility for that year and examined the age and sex distribution of respiratory medications, and patterns of medication use in those suggestive of COPD. RESULTS: In this cohort, 23% filled at least one prescription for a respiratory medication; 14% of males and 16% of females received at least one dispensing of an ICS inhaler. The proportion dispensed a long-acting muscarinic receptor antagonist (LAMA) was considerably lower. Of those newly initiated on a LAMA, 24% did not receive another within 60 days of the last covered day. The prevalence of medication use suggestive of COPD was 15% in males and 16% in females. CONCLUSION: The prevalence of medication use consistent with the management of symptomatic COPD mirrors international prevalence estimates. Several patterns raise concern: high ICS use in older adults, under use of LAMA therapy and poor persistence of those newly initiated. We recommend the development of an intervention to assist in the implementation of new national prescribing guidelines for the management of COPD.

Trajectories of and disparities in HIV prevalence among Black, White, and Hispanic/Latino High Risk Heterosexuals in 89 U.S. Metropolitan statistical areas, 1992-2013.

PURPOSE: Estimates of HIV prevalence, and how it changes over time, are needed to inform action (e.g., resource allocation) to improve HIV-related public health. However, creating adequate estimates of (diagnosed and undiagnosed) HIV prevalence is challenging due to biases in samples receiving HIV testing and due to difficulties enumerating key risk populations. To our knowledge, estimates of HIV prevalence among high risk heterosexuals in the United States produced for geographic areas smaller than the entire nation have to date been only for single years and/or for single cities (or other single geographic locations). METHODS: The present study addresses these gaps by using multilevel modeling on multiple data series, in combination with previous estimates of HIV prevalence among heterosexuals from the extant literature, to produce annual estimates of HIV prevalence among high risk heterosexuals for each of 89 metropolitan statistical areas, from 1992 to 2013. It also produces estimates for these MSAs and years by racial/ethnic subgroup to allow for an examination of change over time in racial/ethnic disparities in HIV prevalence among high risk heterosexuals. RESULTS: The resulting estimates suggest that HIV prevalence among high risk heterosexuals has decreased steadily, on average, from 1992 to 2013. Examination of these estimates by racial/ ethnic subgroup suggests that this trend is primarily due to decreases among Black and Hispanic/Latino high risk heterosexuals. HIV prevalence among white high risk heterosexuals remained steady over time at around 1% during the study period. Although HIV prevalence among Black and Hispanic/Latino high risk heterosexuals was much higher (approximately 3.5% and 3.3%, respectively) than that among whites in 1992, over time these differences decreased as HIV prevalence decreased over time among these subgroups. By 2013, HIV prevalence among Hispanic/Latino high risk heterosexuals was estimated to be very similar to that among white high risk heterosexuals (approximately 1%), with prevalence among Black high risk heterosexuals still estimated to be almost twice as high. CONCLUSIONS: It is likely that as HIV incidence has decreased among heterosexuals from 1992 to 2013, mortality due to all causes has remained disparately high among racial/ethnic minorities, thereby outpacing new HIV cases. Future research should aim to empirically examine this by comparing changes over time in estimated HIV incidence among heterosexuals to changes over time in mortality and causes of death among HIV-positive heterosexuals, by racial/ethnic subgroup.

Droplet digital PCR as a sensitive tool to assess exposure pressure from Echinococcus multilocularis in intermediate hosts.

A key element to understanding parasite epidemiology is assessing their prevalence in the respective wild reservoir hosts. The tapeworm Echinococcus multilocularis circulates between canid species (definite hosts) and small mammals (mostly rodents; intermediate hosts). Prevalence rates of Echinococcus multilocularis in the intermediate host are most exclusively determined through macroscopic examination of the liver generally followed by molecular or histological diagnostic for parasite species confirmation. The overall objective of the study was to investigate the suitability of Real-Time PCR and Droplet Digital PCR (ddPCR) analysis as tool to detect exposure pressure (frequency of infection events) from E. multilocularis in intermediate hosts even in the absence of macroscopic lesions in the liver. One hundred six small mammals (meadow voles and deer mice) were trapped followed by post-mortem examination including macroscopic evaluation of the liver to detect lesions indicative of infection with Echinococcus multilocularis but also by sampling a piece of liver in absence of lesion to submit it to molecular assay. Macroscopic lesions were present in the livers of two samples. Including the latter two samples, five samples yielded a positive result following Real-Time PCR, whereas 16 samples displayed three or more positive droplets upon ddPCR and were considered positive. Whether these additional cases without macroscopic lesions would have become infectious during the lifespan of the rodent or were abortive or early infections is unclear, but these data suggest levels of exposure of intermediate hosts to the parasite is much higher than assumed.

Prevalence of high-risk drug use and coverage of opioid substitution treatment and needle and syringe programs in Lithuania in 2015-2016: A multi-method estimation study.

BACKGROUND AND OBJECTIVES: In Lithuania, injecting heroin and other illicit opioids has dominated high-risk drug use since about 2000. More recently, patients have reported a high-risk use of amphetamines. Newly diagnosed HIV cases among people who inject drugs peaked in 2002 and 2009 and drug-related deaths have been on the increase. Yet research has reported a limited number of available harm-reduction programs. This study aimed to estimate the size of high-risk drug using populations in Lithuania and to apply these estimates in assessing the coverage of opioid substitution treatment (OST) and needle and syringe programs (NSP). METHODS: We used indirect prevalence estimation methods (HIV and Mortality Multiplier, Capture-Recapture, Truncated Poisson and the Multivariate Indicator Method) to obtain annual prevalence estimates of the population of high-risk opioid users (HROU) and of people who inject drugs (PWID) in Lithuania in 2015/2016. We computed the coverage of OST (the annual percentage of HROU in these programs) and NSP (the number of provided syringes per PWID per year), using the prevalence estimates and the data from drug services. RESULTS: There were between 4854 and 12,444 HROU and between 8371 and 10,474 PWID in Lithuania in 2015/2016. In addition, we obtained a preliminary estimate of 4742-7000 high-risk amphetamine users. This constitutes around 2.5-6.5 HROU and 4.4-5.3 PWID per 1000 inhabitants aged 15-64. On average, 9.9-25.5% of HROUs were in OST and an average PWID in Lithuania obtained 19-29 syringes via NSPs during the study period. CONCLUSIONS: While the current prevalence of high-risk drug use in Lithuania is comparable to other European countries and for PWID, it is above the average; and the coverage of OST and NSP services in this population is markedly lower than in most countries of the European Union and warrants further investment.

National and State Estimates of Adults with Autism Spectrum Disorder.

U.S. national and state population-based estimates of adults living with autism spectrum disorder (ASD) are nonexistent due to the lack of existing surveillance systems funded to address this need. Therefore, we estimated national and state prevalence of adults 18-84 years living with ASD using simulation in conjunction with Bayesian hierarchal models. In 2017, we estimated that approximately 2.21% (95% simulation interval (SI) 1.95%, 2.45%) or 5,437,988 U.S. adults aged 18 and older have ASD, with state prevalence ranging from 1.97% (95% SI 1.55%, 2.45%) in Louisiana to 2.42% (95% SI 1.93%, 2.99%) in Massachusetts. Prevalence and case estimates of adults living with ASD (diagnosed and undiagnosed) can help states estimate the need for diagnosing and providing services to those unidentified.

Including mobile-only telephone users in a statewide preventive health survey-Differences in the prevalence of health risk factors and impact on trends.

The Queensland preventive health survey is conducted annually to monitor the prevalence of behavioural risk factors in the north-east Australian state. Prompted by domestic and international trends in mobile telephone usage, the 2015 survey incorporated both mobile and landline telephone numbers from a list-based sampling frame. Estimates for landline-accessible and mobile-only respondents are compared to assess potential bias in landline-only surveys in the context of public health surveillance. Significant differences were found in subcategories of all health prevalence estimates considered (alcohol consumption, body mass index, smoking, and physical activity) from 2015 survey results. Results from Australian and international studies that have considered mobile telephone non-coverage bias are also summarised and discussed. We find that adjusting for sampling biases of telephone surveys by weighting does not fully compensate for the differences in prevalence estimates. However, predicted trends from previous years' surveys only differ significantly for the 2015 prevalence estimates of alcohol consumption. We conclude that the inclusion of mobile telephones into standard telephones surveys is important for obtaining valid, reliable and representative data to reduce bias in health prevalence estimates. Importantly, unlike some international experiences, the addition of mobiles telephones into the Queensland preventive health survey occurred before population trends were significantly affected.

Prevalence of use of performance enhancing drugs by fitness centre members.

Studies on the use of performance enhancing drugs (PED) in fitness centres rely predominately on conventional survey methods using direct questioning. However, research indicates that direct questioning of sensitive information is characterized by under-reporting. The aim of the present study was to contrast direct questioning of different types of PED use by Dutch fitness centre members with results obtained with the Randomized Response Technique (RRT). Questionnaires were conducted among members of fitness centres. PED were classified into the following categories: anabolic steroids, prohormones, substances to counteract side-effects, growth hormone and/or insulin, stimulants (to reduce weight), and miscellaneous substances. A total of 718 athletes from 92 fitness centres completed the questionnaire. The conventional method resulted in prevalences varying between 0% and 0.4% for the different types of PED with an overall prevalence of 0.4%. RRT resulted in prevalences varying between 0.8% and 4.8% for the different types of PED with an overall prevalence of 8.2%. The overall prevalence of the two survey methods differed significantly. The current study showed that the conventional survey method using direct questioning led to an underestimation of the prevalence. Based on the RRT results, the percentage of users of PED among members of fitness centres is approximately 8.2%. Stimulants to lose weight had the highest prevalence, even higher than anabolic steroids. The key task for future preventive health work is to not only focus on anabolic steroid use, but also include interventions focusing on the use of stimulants to lose weight.

A simulative comparison of respondent driven sampling with incentivized snowball sampling--the "strudel effect".

BACKGROUND: Respondent driven sampling (RDS) and incentivized snowball sampling (ISS) are two sampling methods that are commonly used to reach people who inject drugs (PWID). METHODS: We generated a set of simulated RDS samples on an actual sociometric ISS sample of PWID in Vilnius, Lithuania ("original sample") to assess if the simulated RDS estimates were statistically significantly different from the original ISS sample prevalences for HIV (9.8%), Hepatitis A (43.6%), Hepatitis B (Anti-HBc 43.9% and HBsAg 3.4%), Hepatitis C (87.5%), syphilis (6.8%) and Chlamydia (8.8%) infections and for selected behavioral risk characteristics. RESULTS: The original sample consisted of a large component of 249 people (83% of the sample) and 13 smaller components with 1-12 individuals. Generally, as long as all seeds were recruited from the large component of the original sample, the simulation samples simply recreated the large component. There were no significant differences between the large component and the entire original sample for the characteristics of interest. Altogether 99.2% of 360 simulation sample point estimates were within the confidence interval of the original prevalence values for the characteristics of interest. CONCLUSIONS: When population characteristics are reflected in large network components that dominate the population, RDS and ISS may produce samples that have statistically non-different prevalence values, even though some isolated network components may be under-sampled and/or statistically significantly different from the main groups. This so-called "strudel effect" is discussed in the paper.

An abattoir survey of contagious bovine pleuropneumonia lesions in slaughtered cattle in selected districts in Northern Tanzania.

OBJECTIVE: To establish and estimate incidence of contagious bovine pleuropneumonia (CBPP), using abattoir survey as a diagnostic tool in slaughtered cattle in Northern Tanzania. METHODS: A total of 4 460 cattle were slaughtered in five abattoirs in 3 northern zone regions (Arusha, Kilimanjaro and Tanga) during the period of January to May 2004. They were examined ante-mortem for 'pneumonia signs', and 'characteristic contagious bovine pleuropneumonia (CBPP) lung lesions'. RESULTS: Forty-one (0.91%) of the slaughtered cattle, the majority of which were Tanzania short horn zebu, had gross lung lesions suggestive of CBPP. The prevalence of lesions was significantly (P<0.05) higher in Karatu abattoir compared to others. No animal was detected to have lesion in Bomang' ombe abattoir. The most observed pneumonic signs included labored breathing (90%), dry cough (57%) and mucopurulent nasal discharge (47%). The gross characteristic CBPP pathological lesion, frequently encountered was left lung lesion (47%), pinkish lung (71%) and pleural adhesion (98%). Epidemiological reports show that the CBPP reported outbreaks increased from 19 in 2002, 65 in 2003 and 18 in 2004 (January-March). The corresponding number of reported deaths increased from 137 in 2002, 269 in 2003 and 77 in 2004 (January-March). CONCLUSIONS: It's concluded from this study that CBPP is a problem in spite of the extensive awareness and vaccination campaigns. Nevertheless, a continued surveillance programme including routine checks of all cattle carcasses at the abattoir and subsequent epidemiological investigation of suspected cases are recommended.

An abattoir survey of contagious bovine pleuropneumonia lesions in slaughtered cattle in selected districts in Northern Tanzania

Objective: To establish and estimate incidence of contagious bovine pleuropneumonia (CBPP), using abattoir survey as a diagnostic tool in slaughtered cattle in Northern Tanzania. Methods:A total of 4 460 cattle were slaughtered in five abattoirs in 3 northern zone regions (Arusha, Kilimanjaro and Tanga) during the period of January to May 2004. They were examined ante-mortem for ‘pneumonia signs’, and ‘characteristic contagious bovine pleuropneumonia (CBPP) lung lesions’. Results: Forty-one (0.91%) of the slaughtered cattle, the majority of which were Tanzania short horn zebu, had gross lung lesions suggestive of CBPP. The prevalence of lesions was significantly (P<0.05) higher in Karatu abattoir compared to others. No animal was detected to have lesion in Bomang’ ombe abattoir. The most observed pneumonic signs included labored breathing (90%), dry cough (57%) and mucopurulent nasal discharge (47%). The gross characteristic CBPP pathological lesion, frequently encountered was left lung lesion (47%), pinkish lung (71%) and pleural adhesion (98%). Epidemiological reports show that the CBPP reported outbreaks increased from 19 in 2002, 65 in 2003 and 18 in 2004 (January-March). The corresponding number of reported deaths increased from 137 in 2002, 269 in 2003 and 77 in 2004 (January-March). Conclusions: It’s concluded from this study that CBPP is a problem in spite of the extensive awareness and vaccination campaigns. Nevertheless, a continued surveillance programme including routine checks of all cattle carcasses at the abattoir and subsequent epidemiological investigation of suspected cases are recommended.

An abattoir survey of contagious bovine pleuropneumonia lesions in slaughtered cattle in selected districts in Northern Tanzania

<p><b>OBJECTIVE</b>To establish and estimate incidence of contagious bovine pleuropneumonia (CBPP), using abattoir survey as a diagnostic tool in slaughtered cattle in Northern Tanzania.</p><p><b>METHODS</b>A total of 4 460 cattle were slaughtered in five abattoirs in 3 northern zone regions (Arusha, Kilimanjaro and Tanga) during the period of January to May 2004. They were examined ante-mortem for 'pneumonia signs', and 'characteristic contagious bovine pleuropneumonia (CBPP) lung lesions'.</p><p><b>RESULTS</b>Forty-one (0.91%) of the slaughtered cattle, the majority of which were Tanzania short horn zebu, had gross lung lesions suggestive of CBPP. The prevalence of lesions was significantly (P<0.05) higher in Karatu abattoir compared to others. No animal was detected to have lesion in Bomang' ombe abattoir. The most observed pneumonic signs included labored breathing (90%), dry cough (57%) and mucopurulent nasal discharge (47%). The gross characteristic CBPP pathological lesion, frequently encountered was left lung lesion (47%), pinkish lung (71%) and pleural adhesion (98%). Epidemiological reports show that the CBPP reported outbreaks increased from 19 in 2002, 65 in 2003 and 18 in 2004 (January-March). The corresponding number of reported deaths increased from 137 in 2002, 269 in 2003 and 77 in 2004 (January-March).</p><p><b>CONCLUSIONS</b>It's concluded from this study that CBPP is a problem in spite of the extensive awareness and vaccination campaigns. Nevertheless, a continued surveillance programme including routine checks of all cattle carcasses at the abattoir and subsequent epidemiological investigation of suspected cases are recommended.</p>