Tag: nevin manimala

J Youth Adolesc. 2022 Apr 26. doi: 10.1007/s10964-022-01610-8. Online ahead of print.

ABSTRACT

Research suggests that genetic variants that regulate the hypothalamic-pituitary-adrenal (HPA) axis function moderate the association between parenting and anxiety symptoms, but these studies have primarily focused on (i) individual genes with very small and unreliable effect and (ii) the role of mothers as opposed to fathers. Using a multilocus genetic profile score approach, the current study is the first to examine the moderation effect of HPA-axis multilocus genetic variants on the associations of both maternal and paternal parenting with adolescent anxiety symptoms. In a sample of Chinese Han adolescents (N = 772; 50.1% girls; M_age = 16.48 ± 1.40 years, range: 15-20 years), a theory-driven multilocus genetic profile score was computed by counting the numbers of alleles that were previously linked to heightened stress reactivity in six HPA-axis related genes. This HPA-axis related multilocus genetic profile score equivalently interacted with both maternal and paternal parenting in the prediction of adolescent anxiety symptoms. Consistent with cumulative polygenic plasticity hypothesis of differential susceptibility model, adolescents with more versus low alleles linked to heightened stress reactivity not only suffered more from poor maternal or paternal parenting quality, but also benefited more from high maternal or paternal parenting quality. However, none of the individual HPA-axis genes within this multilocus genetic profile score yielded a significant gene-by-environment (G × E) interaction when examined in isolation. The findings survived after internal replication analysis and a novel, valid influence statistic DFBETAS analysis, demonstrating the robustness of the results. The current study highlights the potential value of using a multilocus approach to understand G × E effects underlying anxiety symptoms and emphasizes the role of both mothers and fathers in such gene-parenting interactions, especially in Chinese families.

PMID:35474403 | DOI:10.1007/s10964-022-01610-8

Eur Eat Disord Rev. 2022 Apr 26. doi: 10.1002/erv.2912. Online ahead of print.

ABSTRACT

OBJECTIVE: Sociocultural influences, including an increasing pressure for fashion models to maintain a thin body frame may be crucial in the development of eating disorders. The present study aimed to establish whether fashion models are more likely than non-models to develop eating disorders.

METHODS: Female fashion models were selected by snowball sampling (n = 179, mean age: 25.9 SD = 4.70 years). They were compared with an age adjusted control group (n = 261, mean age: 25.0 SD = 4.97 years). Participants completed an online questionnaire containing the Eating Disorder Inventory.

RESULTS: The average BMI of the fashion models was in the underweight range (mean BMI = 18.1 SD = 1.68). The BMI of the control group was significantly higher (mean = 22.1 SD = 4.23, p < 0.001). The frequency of simulated anorexia nervosa was 3.9% among the fashion models and 1.1% in the control group (p = 0.057). 14.6% of the models showed subclinical anorexia nervosa symptoms versus 2.7% in the control group (p < 0.001). The ratio of bulimia nervosa and subclinical bulimia nervosa showed no significant difference between the two groups.

CONCLUSION: Female fashion models showed no significant difference from the control group in the frequency of anorexia nervosa and bulimia nervosa but had a significantly higher frequency of the subclinical form of anorexia nervosa.

PMID:35474384 | DOI:10.1002/erv.2912

Nucleic Acids Res. 2022 Apr 26:gkac274. doi: 10.1093/nar/gkac274. Online ahead of print.

ABSTRACT

Large-scale phenome-wide association studies performed using densely-phenotyped cohorts such as the UK Biobank (UKB), reveal many statistically robust gene-phenotype relationships for both clinical and continuous traits. Here, we present Gene-SCOUT, a tool used to identify genes with similar continuous trait fingerprints to a gene of interest. A fingerprint reflects the continuous traits identified to be statistically associated with a gene of interest based on multiple underlying rare variant genetic architectures. Similarities between genes are evaluated by the cosine similarity measure, to capture concordant effect directionality, elucidating clusters of genes in a high dimensional space. The underlying gene-biomarker population-scale association statistics were obtained from a gene-level rare variant collapsing analysis performed on over 1500 continuous traits using 394 692 UKB participant exomes, with additional metabolomic trait associations provided through Nightingale Health’s recent study of 121 394 of these participants. We demonstrate that gene similarity estimates from Gene-SCOUT provide stronger enrichments for clinical traits compared to existing methods. Furthermore, we provide a fully interactive web-resource (http://genescout.public.cgr.astrazeneca.com) to explore the pre-calculated exome-wide similarities. This resource enables a user to examine the biological relevance of the most similar genes for Gene Ontology (GO) enrichment and UKB clinical trait enrichment statistics, as well as a detailed breakdown of the traits underpinning a given fingerprint.

PMID:35474393 | DOI:10.1093/nar/gkac274

Am J Epidemiol. 2022 Apr 26:kwac082. doi: 10.1093/aje/kwac082. Online ahead of print.

ABSTRACT

Few prospective studies have examined associations between diet quality and pancreatic ductal adenocarcinoma (PDAC), or comprehensively compared diet quality indices. We conducted a prospective analysis of adherence to the Healthy Eating Index (HEI)-2015, alternative HEI-2010 (AHEI-2010), alternate Mediterranean diet (aMED), and two Dietary Approaches to Stop Hypertension (DASH, Fung and Mellen) indices and PDAC within the National Institutes of Health (NIH)-AARP Diet and Health Study (United States, 1995-2011). The dietary quality indices were calculated using responses from a 124-item food frequency questionnaire completed by 535,824 (315,780 men and 220,044 women) participants. We used Cox proportional hazard regression models to calculate adjusted hazard ratios (HRs) and 95% confidence intervals (CIs) for each diet quality index and PDAC. During follow-up through 2011 (15.5-year median), 3,137 incident PDAC cases were identified. Compared to those with the lowest adherence quintiles (Q1), participants with the highest adherence (Q5) [HRs (95% CIs)] to the HEI-2015 [0.84 (0.75, 0.94)], aMED [0.82 (0.73, 0.93)], DASH-Fung [0.85 (0.77, 0.95)], and DASH-Mellen [0.86 (0.77, 0.96)] had a statistically significant lower PDAC risk but not the AHEI-2010 [0.93 (0.83, 1.04)]. This prospective observational study supports the hypothesis that greater adherence to the HEI-2015, aMED, and DASH dietary recommendations may reduce PDAC.

PMID:35474368 | DOI:10.1093/aje/kwac082

J Nurs Manag. 2022 Apr 27. doi: 10.1111/jonm.13646. Online ahead of print.

ABSTRACT

AIM: This research was planned to identify nurse managers’ opinions on artificial intelligence and robot nurses.

BACKGROUND: As the concepts of artificial intelligence and robot nurses are becoming widespread in Turkey, nurse managers are expected to guide and cooperate with nurses in the future in regards to these technologies.

METHODS: The sample of the study consisted of 326 manager nurses, who were reached via the online questionnaire during the period of September-November 2021. Nurse Managers Information Form and Question Form on Artificial Intelligence and Robot Nurses were used to collect data. Data in this cross-sectional descriptive study was collected between September 2021 and November 2021 by the online survey method. The descriptive statistics of the data were analyzed with numbers and percentages. The difference between the knowledge of artificial intelligence and robot nurses and demographic characteristics was analyzed with the Chi-square test.

RESULTS: According to the findings, 66.9% of the nurse managers reported having heard the concepts of artificial intelligence and robot nurses previously. 67.2% stated that they thought that robot nurses would benefit the nursing profession, but 86.2% voiced disbelief that robots would replace nurses.

CONCLUSIONS: The majority of the participating nurse managers reported that artificial intelligence and robot nurses would not replace nurses but would be beneficial for nurses and would reduce their workload.

IMPLICATIONS FOR NURSING MANAGEMENT: It should be ensured that the nurse managers plan the areas in the hospital where artificial intelligence and robot nurses will be used and determine the possible risks. Awareness should be increased with in-service trainings and patient safety and ethical problems regarding the use of artificial intelligence and robot nurses should be identified.

PMID:35474366 | DOI:10.1111/jonm.13646

Eur J Cancer Care (Engl). 2022 Apr 26:e13597. doi: 10.1111/ecc.13597. Online ahead of print.

ABSTRACT

PURPOSE: Cancer-related fatigue (CRF) results in reduced quality of life for cancer patients. The relationship between tiredness and fatigue has been established in cancer patients and has been shown to be reciprocal, meaning the relationship is somewhat ‘chicken or the egg’ with tiredness influencing fatigue and vice versa. The aim of this study is to determine whether an improvement in sleep quality can ease the symptoms of CRF and whether this can support the theory that CRF symptoms stem from the effect of tiredness.

METHOD: Three databases were searched producing 259 papers. The papers were filtered using several inclusion criteria, resulting in a final list of 20 papers for analysis. The remaining papers (20) were critically appraised using the Critical Appraisals Skills Programme (CASP) randomised control trial checklist and assessed for bias using the Cochrane Collaboration’s tool for assessing risk of bias in randomised trials.

RESULTS: Fourteen papers showed an increase in sleep quality that also resulted in an improvement in fatigue symptoms. Cognitive behavioural therapy was shown to be the most effective intervention with a statistically significant decrease in fatigue alongside significant improvement in sleep quality shown in six of the papers (p < 0.05). Sleep education also had a positive impact on both sleep and fatigue scores with three papers showing significant improvements. Three papers focusing on exercise interventions produced a significant improvement in fatigue symptoms and quality of sleep.

CONCLUSION: Improving quality of sleep does ease the symptoms of CRF; however, the ‘chicken or the egg’ question regarding CRF and tiredness cannot be answered at this stage.

PMID:35474359 | DOI:10.1111/ecc.13597

Eur J Hum Genet. 2022 Apr 26. doi: 10.1038/s41431-022-01104-y. Online ahead of print.

ABSTRACT

Colorectal cancer (CRC) has a high incidence and mortality worldwide. Microsatellite instability (MSI) is crucial in CRC, with distinct molecular and clinicopathological features in patients. Nowadays, it is a predictive marker for immunotherapy. We proposed to evaluate the 5-year outcome of MSI status in 1002 Brazilian CRC, and associate it with genetic ancestry, molecular and clinicopathological features. MSI evaluation was performed using molecular markers. MSI+ tumors were analyzed for alterations in 23 MSI-targeted genes. Genetic ancestry was evaluated using an Ancestry-Informative markers panel. MSI status was analyzed in relation to CRC specific survival and other clinical and genetic variables. MSI+ status was observed in 10.5% of cases. MSI+ status was significantly associated with the anatomic site right colon, mucinous histological type, clinical stage II, histological grade III/undifferentiated, no recurrence of disease, and live cases without cancer. No association of MSI status with genetic ancestry components was observed. MSI-targeted genes analyses showed the most frequently altered genes: ATM, EGFR, MRE11, ROCK1, and TGFBRII. There was a statistically significant difference in cancer-specific survival between cases according to MSI status. This study constitutes the most comprehensive analyses of the MSI impact on the Brazilian CRC. MSI+ frequency in Brazilian CRC agreed with the literature and was associated with several clinicopathological features related with less aggressive tumors, independently of their genetic ancestry.

PMID:35474354 | DOI:10.1038/s41431-022-01104-y

J Diabetes Investig. 2022 Apr 27. doi: 10.1111/jdi.13818. Online ahead of print.

ABSTRACT

AIM/INTRODUCTION: We investigated the associations between a combination of lifestyle factors and changes to these factors and the subsequent risk of severe hypoglycemia (SH) in type 2 diabetes (T2D).

MATERIALS AND METHODS: Subjects with adult T2D who underwent consecutive two-year interval health screening programs from 2009 to 2012 from the Korean National Health Insurance Service database were included and followed up until 2018. Information on history of smoking status, alcohol consumption, and physical activity as well as changes to these factors was obtained. The primary outcome was incident SH.

RESULTS: Of the 1,490,233 T2D subjects, 30,539 (2.1%) subjects developed SH. Current smokers and heavy drinkers had increased risk of SH, compared to nonsmokers and nondrinkers, respectively (hazard ratio (HR) 1.28 [1.23-1.34]; HR 1.22 [1.15-1.30]). However, regular physical activity was associated with reduced SH risk (HR 0.79 [0.77-0.82]). A combination of unhealthy lifestyle habits was associated with increased SH risk in a dose-dependent fashion (P for trend <0.001). Compared with subjects without changes in their unhealthy lifestyles, subjects who improved lifestyles had decreased risk of SH.

CONCLUSIONS: Greater adherence to healthy lifestyle factors and any improvement in unhealthy lifestyle habits were associated with a substantially lower risk of SH in individuals with T2D.

PMID:35474300 | DOI:10.1111/jdi.13818

Clin J Am Soc Nephrol. 2022 Apr 26:CJN.13711021. doi: 10.2215/CJN.13711021. Online ahead of print.

ABSTRACT

BACKGROUND AND OBJECTIVES: Glomerular hematuria has varied causes but can have a genetic basis, including Alport syndrome and IgA nephropathy.

DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We used summary statistics to identify genetic variants associated with hematuria in White British UK Biobank participants. Individuals with glomerular hematuria were enriched by excluding participants with genitourinary conditions. A strongly associated locus on chromosome 2 (COL4A4–COL4A3) was identified. The region was reimputed using the Trans-Omics for Precision Medicine Program followed by sequential rounds of regional conditional analysis, conditioning on previous genetic signals. Similarly, we applied conditional analysis to identify independent variants in the MHC region on chromosome 6 using imputed HLA haplotypes.

RESULTS: In total, 16,866 hematuria cases and 391,420 controls were included. Cases had higher urinary albumin-creatinine compared with controls (women: 13.01 mg/g [8.05-21.33] versus 12.12 mg/g [7.61-19.29]; P<0.001; men: 8.85 mg/g [5.66-16.19] versus 7.52 mg/g [5.04-12.39]; P<0.001) and lower eGFR (women: 88±14 versus 90±13 ml/min per 1.72 m²; P<0.001; men: 87±15 versus 90±13 ml/min per 1.72 m²; P<0.001), supporting enrichment of glomerular hematuria. Variants at six loci (PDPN, COL4A4-COL4A3, HLA-B, SORL1, PLLP, and TGFB1) met genome-wide significance (P<5E-8). At chromosome 2, COL4A4 p.Ser969X (rs35138315; minor allele frequency=0.00035; P<7.95E-35; odds ratio, 87.3; 95% confidence interval, 47.9 to 159.0) had the most significant association, and two variants in the locus remained associated with hematuria after conditioning for this variant: COL4A3 p.Gly695Arg (rs200287952; minor allele frequency=0.00021; P<2.16E-7; odds ratio, 45.5; 95% confidence interval, 11.8 to 168.0) and a common COL4A4 intron 25 variant (not previously reported; rs58261427; minor allele frequency=0.214; P<2.00E-9; odds ratio, 1.09; 95% confidence interval, 1.06 to 1.12). Of the HLA haplotypes, HLA-B (*0801; minor allele frequency=0.14; P<4.41E-24; odds ratio, 0.84; 95% confidence interval, 0.82 to 0.88) displayed the most statistically significant association. For remaining loci, we identified three novel associations, which were replicated in the deCODE dataset for dipstick hematuria (nearest genes: PDPN, SORL1, and PLLP).

CONCLUSIONS: Our study identifies six loci associated with hematuria, including independent variants in COL4A4–COL4A3 and HLA-B. Additionally, three novel loci are reported, including an association with an intronic variant in PDPN expressed in the podocyte.

PODCAST: This article contains a podcast at https://www.asn-online.org/media/podcast/CJASN/2022_04_26_CJN13711021.mp3.

PMID:35474271 | DOI:10.2215/CJN.13711021

Ticks Tick Borne Dis. 2022 Mar 10:101939. doi: 10.1016/j.ttbdis.2022.101939. Online ahead of print.

ABSTRACT

Equine piroplasmosis is a disease of equids, caused by tick-borne apicomplexan protozoan pathogens Babesia caballi and Theileria equi, which, according to the World Organisation for Animal Health (OIE), can be diagnosed by enzyme-linked immunosorbent assay (ELISA), immunofluorescent antibody test (IFAT) and polymerase chain reaction (PCR). The present study was conducted to evaluate and compare the assays available for the diagnosis of equine piroplasmosis. Data employed were obtained from 1300 blood samples collected between 2012-2014 from asymptomatic and symptomatic equines (horses and donkeys) of central-southern regions of Italy and analyzed by ELISA, IFAT, PCR (one commercial and one from literature) and blood smear microscopic examination. Statistical differences of the proportions of positivity for each parasite and group (asymptomatic and symptomatic) among the methods were verified by the z test to identify the most sensitive. The concordance between each pair of methods – for each parasite and within the groups – and trends in detection of suspect samples of four hypothetical diagnostic algorithms using serological and biomolecular assays were evaluated to identify the most suitable laboratory diagnostic workflow. The results of this study highlighted a lower capacity to detect suspect samples of commercial ELISA for B. caballi in all groups when compared to biomolecular methods and IFAT; and of the commercial PCRs in asymptomatic animals, identifying a PCR from literature and IFAT as the best choice for a combined diagnosis. For T. equi, IFAT detected more suspect samples than ELISA, even if the latter showed good performance and some samples were positive only by the ELISA and PCR, indicating that their simultaneous employment is still advantageous. Host-parasite interaction, amino-acid/genetic diversity and differences in detection limits among the assays could be among the reasons in explaining the present results. In view of further studies, ELISA should be used in combination with PCR, that should regularly be included in the laboratory diagnosis to maximise the detection of early infections and support the evaluation of pharmacological treatment.

PMID:35474261 | DOI:10.1016/j.ttbdis.2022.101939