Nevin Manimala

Mol Genet Genomic Med. 2022 Feb 11:e1866. doi: 10.1002/mgg3.1866. Online ahead of print.

ABSTRACT

BACKGROUND: The genetic architecture of hearing impairment in Finland is largely unknown. Here, we investigated two Finnish families with autosomal recessive nonsyndromic symmetrical moderate-to-severe hearing impairment.

METHODS: Exome and custom capture next-generation sequencing were used to detect the underlying cause of hearing impairment.

RESULTS: In both Finnish families, we identified a homozygous pathogenic splice site variant c.637+1G>T in CAPB2 that is known to cause autosomal recessive nonsyndromic hearing impairment. Four CABP2 variants have been reported to underlie autosomal recessive nonsyndromic hearing impairment in eight families from Iran, Turkey, Pakistan, Italy, and Denmark. Of these variants, the pathogenic splice site variant c.637+1G>T is the most prevalent. The c.637+1G>T variant is enriched in the Finnish population, which has undergone multiple bottlenecks that can lead to the higher frequency of certain variants including those involved in disease.

CONCLUSION: We report two Finnish families with hearing impairment due to the CABP2 splice site variant c.637+1G>T.

PMID:35150090 | DOI:10.1002/mgg3.1866

J Obstet Gynaecol Res. 2022 Feb 12. doi: 10.1111/jog.15167. Online ahead of print.

ABSTRACT

AIM: We aim to establish a predictive model for the evaluation of fecundity based on infertility-related factors.

METHODS: A total of 410 expectant couples who visited the First Affiliated Hospital of Xinjiang Medical University on January 1, 2017 and June 10, 2019 were included in this study. The 1-year follow-up was carried out to investigate the pregnancy of the female. They were divided into model group and test group, respectively. The basic information, life behavior and clinical indices were screened using the Logistics regression analysis and LASSO regression analysis. In addition, the multivariate logistic regression was used to establish the model for the prediction of fecundity risk.

RESULTS: The risk factors for the predictive model included female age and occupational pressure, gynecological disease, anti-Müllerian hormone (AMH), follicle-stimulating hormone (FSH), fasting plasma glucose (FPG), depression, as well as male smoking. The area under the curve (AUC) for the model A and model B was 0.954 (0.931 ~ 0.978) and 0.955 (0.931 ~ 0.979), respectively. The AUC in the test group was 0.917 (0.869 ~ 0.965) and 0.921 (0.873 ~ 0.968). There were no statistical differences in the fitting value and measured values in the model group.

CONCLUSIONS: We established a predictive model for the evaluation of fecundity, which showed a satisfactory accuracy and discriminatory power.

PMID:35150044 | DOI:10.1111/jog.15167

Health Econ. 2022 Feb 11. doi: 10.1002/hec.4476. Online ahead of print.

ABSTRACT

Identifying individuals most at risk of HIV infection is a priority for policymakers. Apart from specific groups, however, little is known about how to identify those at high risk in the population. Research suggests that attitudes toward risk and time preferences may influence risky sexual behavior, but no studies have so far investigated the interplay between risk attitudes, time preference, and HIV infection. We collect data on risk and time preferences using hypothetical games (multiple price list method) at baseline and data on HIV status at baseline (2010) and endline (2012) allowing us to calculate incidence rate over a 2-year period among 675 participants, males and females 18-32 years old in Lesotho. We find robust evidence of a statistically significant positive associations between HIV incidence and prevalence and risk-loving attitudes, while the associations with risky behaviors and time preferences are not statistically significant. A measure of attitude toward risk, relatively easy to administer to individuals in a survey, is thus associated with future HIV status. This is an important finding for policymakers and suggests the importance of targeting HIV prevention programs to risk-loving individuals and therefore improving program efficiency.

PMID:35150024 | DOI:10.1002/hec.4476

J Oral Rehabil. 2022 Feb 11. doi: 10.1111/joor.13312. Online ahead of print.

ABSTRACT

BACKGROUND: Sleep bruxism (SB) is a condition regulated centrally, with a multifactorial etiology, which can occur secondary to systemic disorders and use of certain medications.

OBJECTIVE: The aim of this study was to identify associations between sleep bruxism, obstructive sleep apnea and hypopnea syndrome (OSAHS) and the use of antidepressants.

MATERIAL AND METHODS: In this cross-sectional study, 240 individuals underwent a full-night polysomnography, for medical reasons. Anamnesis was performed to collect data about the use of antidepressants and general health conditions. Polysomnography was performed to analyze sleep data and assess respiratory-related events and apnea and hypopnea index (AHI). The polysomnographic assessment of sleep bruxism was performed, from electrodes placed on masseter muscles and chin. SB was defined by the presence of more than two events of rhythmic masticatory muscles activity (RMMA) per hour of sleep. Statistical analyzes were performed to compare the presence of SB and AHI, severity of OSAHS and use of antidepressants.

RESULTS: There were statistically significant differences between bruxers and non-bruxers, when comparing AHI (48.28±25.84; p=0.001) and severity of OSAHS (p=0.015). Regarding the use of antidepressants, comparative analyzes did not shown correlations with bruxism (p=0.072). However, logistic regression suggests that the use of these medications may represent increased odds for SB development (OR=2.387; p=0.005).

CONCLUSION: The relationship between the use of antidepressants and SB remains inconclusive. SB is associated with OSAHS, mainly in its severe form. Therefore, identifying SB can raise the suspicion of the occurrence of other systemic disturbances.

PMID:35149999 | DOI:10.1111/joor.13312

Psychometrika. 2022 Feb 11. doi: 10.1007/s11336-021-09838-2. Online ahead of print.

ABSTRACT

The asymptotic posterior normality (APN) of the latent variable vector in an item response theory (IRT) model is a crucial argument in IRT modeling approaches. In case of a single latent trait and under general assumptions, Chang and Stout (Psychometrika, 58(1):37-52, 1993) proved the APN for a broad class of latent trait models for binary items. Under the same setup, they also showed the consistency of the latent trait’s maximum likelihood estimator (MLE). Since then, several modeling approaches have been developed that consider multivariate latent traits and assume their APN, a conjecture which has not been proved so far. We fill this theoretical gap by extending the results of Chang and Stout for multivariate latent traits. Further, we discuss the existence and consistency of MLEs, maximum a-posteriori and expected a-posteriori estimators for the latent traits under the same broad class of latent trait models.

PMID:35149979 | DOI:10.1007/s11336-021-09838-2

Can J Public Health. 2022 Feb 11. doi: 10.17269/s41997-021-00607-3. Online ahead of print.

ABSTRACT

SETTING: Congenital anomalies (CAs) can cause lifelong morbidity and accounted for 23.2% of infant deaths from 2003 to 2007. In British Columbia (BC), surveillance of CAs has been irregular since the early 2000s. To enhance CAs surveillance in BC, the Public Health Agency of Canada has provided funding for the implementation of the BC Congenital Anomalies Surveillance System (BCCASS).

INTERVENTION: BCCASS is a population-based surveillance system. The system leverages existing administrative data sources that capture information regarding vital events, disease status, drug prescription, and healthcare utilization. The system uses a series of algorithms to capture specific CAs diagnoses, some of which are further validated with the support of the Provincial Advisory Committee. This Advisory Committee is a multi-stakeholder coalition that includes the BC Office of the Provincial Health Officer, subject matter experts, data partners, users, and academia, and acts to provide support, expertise, and strategic guidance to BCCASS.

OUTCOMES: Through BCCASS, prevalence and historical trends for 35 CAs in BC are available. Information pertaining to maternal place of residence, risk, and protective factors can be used for association studies such as links to environmental hazards and cluster analysis.

IMPLICATIONS: BCCASS is a cost-effective and sustainable system that leverages existing data sources necessary to understand the overall burden of CAs across the BC population. This is fundamental to support data-driven decisions around policy development, program planning, and evaluation of preventive measures. Strong coalitions with stakeholders are instrumental to ensure successful implementation and expansion in the future.

PMID:35149971 | DOI:10.17269/s41997-021-00607-3

Ophthalmol Ther. 2022 Feb 11. doi: 10.1007/s40123-022-00471-5. Online ahead of print.

ABSTRACT

INTRODUCTION: To present real-world outcomes of neovascular age-related macular degeneration (nAMD) management in Thailand.

METHODS: This multicenter retrospective study reviewed medical records of naive nAMD patients diagnosed from 1 January 2016 until 31 December 2018. The patients received at least one intravitreal anti-vascular endothelial growth factor (VEGF) treatment and had captured visual acuity (VA) at baseline and at month 12. Treatment outcomes were assessed at month 12, 24, and 36. The primary outcome was a mean change in VA from baseline to month 12.

RESULTS: Five hundred seventy-two (572) eyes were included in this study and of these eyes, 222 and 96 had 2- and 3-year follow-up periods, respectively. At month 12, the mean improvement of VA (ETDRS letter) was six letters (P < 0.0001), and central retinal thickness (CRT) decreased on average by 104 microns (P < 0.0001). However, visual improvement by 0.1 letters at month 36 did not show statistical significance. The presence of fluid was found in approximately half of patients throughout the study period (45.98%, 48.85%, and 50.91% at month 12, 24, and 36, respectively). Mean number of injections (SD) was 6.06 (3.00), 3.44 (2.94), and 2.71 (3.07) for years 1, 2, and 3, respectively. The mean number of visits (SD) in year 1 was 9.01 (2.60) and declined to 5.67 (2.69) in year 2 and 4.93 (2.49) in year 3. Patients who had an average injection interval of ≤ 8 weeks were 74.46% in year 1, 51.28% in year 2, and 45.24 in year 3; 35.31% of patients were lost to follow-up.

CONCLUSIONS: This analysis reflects real-world nAMD management with significant improvement of outcomes. At the same time, the study reveals unmet needs in anti-VEGF therapy in nAMD including persistent disease activities, inadequacy of available treatment, and lack of treatment adherence leading to visual deterioration in the long-term.

PMID:35149964 | DOI:10.1007/s40123-022-00471-5

Environ Sci Pollut Res Int. 2022 Feb 12. doi: 10.1007/s11356-022-19092-3. Online ahead of print.

ABSTRACT

Meteorological variables are regarded as risk factors for inflammatory diseases, but their associations with uveitis, one of the leading causes accounting for blindness worldwide with an estimated prevalence of 38-714 cases/100,000 person-years, have not been thoroughly investigated. The present study explored the short-term association between meteorological variables and hospital admissions for uveitis in Hefei City, China. Daily data on uveitis hospital admissions and meteorological variables including mean temperature (MT) (°C), diurnal temperature range (DTR) (°C), and relative humidity (RH) (%), from 2014 to 2020, were collected. A time-series study using generalized linear model combined with distributed lag non-linear model was applied. Totally, 1911 admissions for uveitis including 894 first admissions and 1017 readmissions were reported during the study period. The associations of high percentile of MT (75th, 24.5℃) and low percentile of DTR (25th, 5.4℃) with uveitis admissions were observed to be statistically significant from lag9 (RR = 1.041, 95%CI: 1.002-1.081) to lag11 (RR = 1.053, 95%CI: 1.003-1.104) and lag4 (RR = 1.053, 95%CI: 1.019-1.088) to lag5 (RR = 1.052, 95%CI: 1.020-1.085), respectively. Moreover, a significant association between low percentile of RH (1th, 44%) and uveitis admissions appeared at lag0-8 (RR = 1.869, 95%CI: 1.017-3.434) and lasted until lag0-13 (RR = 2.539, 95%CI: 1.102-5.850) in the cumulative lag structure. Subgroup analyses indicated that males and the young seemed to be more sensitive to high MT exposure, while females appeared to be more vulnerable to low DTR exposure. Interestingly, both the young and the elderly are susceptible to low DTR and low RH exposure. Furthermore, high MT and low DTR exposure were associated with increased risk of first admission for uveitis. In summary, exposure to high-value of MT and low-value of DTR and RH may increase the hospital admissions for uveitis, especially for the status of first admission.

PMID:35149948 | DOI:10.1007/s11356-022-19092-3

Environ Sci Pollut Res Int. 2022 Feb 11. doi: 10.1007/s11356-022-19122-0. Online ahead of print.

ABSTRACT

This study investigates the effects of human capital, bio-capacity, energy use, and economic growth on the ecological footprint of G20 countries for the period 1970-2016, using the panel dynamic common correlated effects (DCCE) model. In the study, the G20 was considered in two groups, as developed and emerging economies. According to the DCCE estimation results, the long-term impact of human capital on the ecological footprint is negative and statistically strong in the developed economies while it is insignificant in the emerging economies. The impact of bio-capacity on the ecological footprint is positive in the short and long term in the emerging economies, and only in the short term in the developed economies. In addition, economic growth and energy use undermine the environmental quality in both groups of countries. The error correction coefficients are negative and statistically significant, which means that the deviations from the short-term equilibrium converge the long-term equilibrium level for both groups.

PMID:35149945 | DOI:10.1007/s11356-022-19122-0

Environ Sci Pollut Res Int. 2022 Feb 11. doi: 10.1007/s11356-022-19026-z. Online ahead of print.

ABSTRACT

The evidence on the health and economic impacts of air pollution with schizophrenia is scarce, especially in developing countries. In this study, we aimed to systemically examine the short-term effects of PM_2.5 (particulate matter ≤ 2.5 μm in diameter), PM₁₀ (≤ 10 μm in diameter), NO₂ (nitrogen dioxide), SO₂ (sulfur dioxide), CO (carbon monoxide), and O₃ (ozone) on hospital admissions for schizophrenia in a Chinese coastal city (Qingdao) and to further assess the corresponding attributable risk and economic burden. A generalized additive model (GAM) was applied to model the impact of air pollution on schizophrenia, and the corresponding economic burden including the direct costs (medical expenses) and indirect costs (productivity loss). Stratified analyses were also performed by age, gender, and season (warm or cold). Our results showed that for a 10 μg/m³ increase in the concentrations of PM_2.5, PM₁₀, SO₂, and CO at lag5, the corresponding relative risks (RRs) were 1.0160 (95% CI: 1.0038-1.0282), 1.0097 (1.0018-1.0177), 1.0738 (1.0222-1.01280), and 1.0013 (1.0001-1.0026), respectively. However, no significant effect of NO₂ or O₃ on schizophrenia admissions was found. The stratified analysis indicated that females and younger individuals (< 45 years old) appeared to be more vulnerable, but no significant difference was found between seasons. Furthermore, 12.41% of schizophrenia hospitalizations were attributable to exposure to air pollution exceeding the World Health Organization (WHO) air quality standard, with a total economic burden of 89.67 million RMB during the study period. At the individual level, excessive air pollution exposure resulted in an economic burden of 8232.08 RMB per hospitalization. Our study found that short-term exposure to air pollutants increased the risk of hospital admissions for schizophrenia and resulted in a substantial economic burden. Considerable health benefits can be achieved by further reducing air pollution.

PMID:35149942 | DOI:10.1007/s11356-022-19026-z