Category: Nevin Manimala

Pathol Oncol Res. 2023 Feb 7;29:1610909. doi: 10.3389/pore.2023.1610909. eCollection 2023.

ABSTRACT

Background: Few overlaps between prognostic biomarkers are observed among different independently performed genomic studies of esophageal squamous cell carcinoma (ESCC). One of the reasons for this is the insufficient cohort size. How many cases are needed to prognostic genes analysis in ESCC? Methods: Here, based on 387 stage II/III ESCC cases analyzed by whole-genome sequencing from one single center, effects of cohort size on prognostic genes analysis were investigated. Prognostic genes analysis was performed in 100 replicates at each cohort size level using a random resampling method. Results: The number of prognostic genes followed a power-law increase with cohort size in ESCC patients with stage II and stage III, with exponents of 2.27 and 2.25, respectively. Power-law curves with increasing events number were also observed in stage II and III ESCC, respectively, and they almost overlapped. The probability of obtaining statistically significant prognostic genes shows a logistic cumulative distribution function with respect to cohort size. To achieve a 100% probability of obtaining statistically significant prognostic genes, the minimum cohort sizes required in stage II and III ESCC were approximately 95 and 60, respectively, corresponding to a number of outcome events of 33 and 36, respectively. Conclusion: In summary, the number of prognostic genes follows a power-law growth with the cohort size or events number in ESCC. The minimum events number required to achieve a 100% probability of obtaining a statistically significant prognostic gene is approximately 35.

PMID:36825282 | PMC:PMC9941191 | DOI:10.3389/pore.2023.1610909

Atten Percept Psychophys. 2023 Feb 23. doi: 10.3758/s13414-023-02667-8. Online ahead of print.

ABSTRACT

Previous studies have shown that during visual search, participants are able to implicitly learn across-trial regularities regarding target locations and use these to improve search performance. The present study asks whether such across-trial visual statistical learning also extends to the location of salient distractors. In Experiments 1 and 2, distractor regularities were paired so that a specific distractor location was 100% predictive of another specific distractor location on the next trial. Unlike previous findings that employed target regularities, the current results show no difference in search times between predictable and unpredictable trials. In Experiments 3-5 the distractor location was presented in a structured order (a sequence) for one group of participants, while it was presented randomly for the other group. Again, there was no learning effect of the across-trial regularities regarding the salient distractor locations. Across five experiments, we demonstrated that participants were unable to exploit across-trial spatial regularities regarding the salient distractors. These findings point to important boundary conditions for the modulation of visual attention by statistical regularities and they highlight the need to differentiate between different types of statistical regularities.

PMID:36823261 | DOI:10.3758/s13414-023-02667-8

Atten Percept Psychophys. 2023 Feb 23. doi: 10.3758/s13414-023-02670-z. Online ahead of print.

ABSTRACT

The aim of this report was to analyze reaction times and accuracy in children with a vision impairment performing a feature-based visual search task using a multiverse statistical approach. The search task consisted of set sizes 4, 16, and 24, consisting of distractors (circle) and a target (ellipse) that were presented randomly to school-aged individuals with or without a vision impairment. Interactions and main effects of key variables relating to reaction times and accuracy were analyzed via a novel statistical method blending GAMLSS (generalized additive models for location, scale, and shape) and distributional regression trees. Reaction times for the target-present and target-absent conditions were significantly slower in the vision impairment group with increasing set sizes (p < .001). Female participants were significantly slower than were males for set sizes 16 and 24 in the target-absent condition (p < .001), with male participants being significantly slower than females in the target-present condition (p < .001). Accuracy was only significantly worse (p = .03) for participants less than 14 years of age for the target-absent condition with set sizes 16 and 24. There was a positive association between binocular visual acuity and search time (p < .001). The application of GAMLSS with distributional regression trees to the analysis of visual search data may provide further insights into underlying factors affecting search performance in case-control studies where psychological or physical differences may influence visual search outcomes.

PMID:36823260 | DOI:10.3758/s13414-023-02670-z

Cogn Affect Behav Neurosci. 2023 Feb 23. doi: 10.3758/s13415-023-01063-x. Online ahead of print.

ABSTRACT

Deficits in neural reward processing have been implicated in the etiology of depression and have been observed in high-risk individuals. However, depression is a heterogeneous disorder, and not all depressed individuals exhibit blunted neural reward response, suggesting the need to examine more specific depression phenotypes. Early-onset depression, a well-defined phenotype, has been associated with greater intergenerational transmission of depression and appears more closely linked to neural reward processing deficits. The present study examined whether a maternal history of early-onset depression was associated with neural reward response among mothers and their daughters. Mothers with and without a history of depression, as well as their biological, adolescent daughters (N = 109 dyads), completed a monetary reward guessing task while electroencephalogram was collected. Analyses focused on the Reward Positivity (RewP), an event-related potential following reward receipt. Adjusting for current depressive symptoms, maternal early-onset depression was associated with a blunted RewP in the mothers and a numerically smaller RewP in their never-depressed, adolescent daughters. Maternal adult-onset depression was not statistically associated with a blunted RewP in mothers or daughters. Thus, a blunted RewP appears to be a trait-like vulnerability marker for depression that emerges before depression onset and relates to more specific depression phenotypes (e.g., early-onset depression). These findings have implications for early identification of individuals at risk of depression and for developing more targeted interventions.

PMID:36823246 | DOI:10.3758/s13415-023-01063-x

Sci Rep. 2023 Feb 23;13(1):3178. doi: 10.1038/s41598-023-29436-9.

ABSTRACT

The combination of noradrenergic (reboxetine) plus antimuscarinic (oxybutynin) drugs (reb-oxy) reduced obstructive sleep apnea (OSA) severity but no data are available on its effects on cardiac autonomic modulation. We sought to evaluate the impact of 1-week reb-oxy treatment on cardiovascular autonomic control in OSA patients. OSA patients were randomized to a double-blind, crossover trial comparing 4 mg reboxetine plus 5 mg oxybutynin to a placebo for OSA treatment. Heart rate (HR) variability (HRV), ambulatory blood pressure (BP) monitoring (ABPM) over 24 h baseline and after treatment were performed. Baroreflex sensitivity was tested over beat-to-beat BP recordings. 16 subjects with (median [interquartile range]) age 57 [51-61] years and body mass index 30 [26-36]kg/m² completed the study. The median nocturnal HR was 65 [60-69] bpm at baseline and increased to 69 [64-77] bpm on reb-oxy vs 66 [59-70] bpm on placebo (p = 0.02). The mean 24 h HR from ABPM was not different among treatment groups. Reb-oxy administration was not associated with any modification in HRV or BP. Reb-oxy increased the baroreflex sensitivity and did not induce orthostatic hypotension. In conclusion, administration of reb-oxy did not induce clinically relevant sympathetic overactivity over 1-week and, together with a reduction in OSA severity, it improved the baroreflex function.

PMID:36823241 | DOI:10.1038/s41598-023-29436-9

Sci Rep. 2023 Feb 23;13(1):3156. doi: 10.1038/s41598-023-29819-y.

ABSTRACT

Non-compliance to intravitreal anti-vascular endothelial growth factor (anti-VEGF) therapy can result in increased disease activity in neovascular age-related macular degeneration (nAMD). Our study aims to determine effects of unplanned delay in anti-VEGF injection treatment for nAMD. This retrospective observational study included patients with delays in receiving intravitreal injections for nAMD treatment from March to May 2020 by at least 21 days. Baseline demographic and clinical characteristics, visual acuity (VA), central macular thickness (CMT) measured on optical coherence tomography (OCT), and duration of delayed treatment were analyzed for 3 time points, the pre-delay visit (v1) and post-delay visits (v2 and v3). Data were compared to age-matched controls treated for nAMD in 2019 without delay. Demographic characteristics were compared using two-sample t-tests for continuous variables and Pearson’s chi-square tests for categorical variables. For the two primary outcomes of interest, VA and CMT, means and standard deviations were reported for each combination of group and time. Each outcome was modeled using a linear mixed model with the group, time and group-time interaction as fixed effects. A total of 69 patients (99 eyes) in the treatment delay group and 44 patients (69 eyes) in the control group were identified. Statistically significant differences between control and delayed groups were detected for VA (difference in mean logMAR = 0.16; 95% CI 0.06, 0.27; p = 0.002) and CMT (difference in mean CMT = 29; 95% CI 12, 47; p = 0.001) at v2. No differences were detected for v1 and v3 time points for both outcomes. An unplanned delay in intravitreal injection treatment for nAMD resulted in an increase in CMT and worsening of VA compared to controls observed at v2. At v3, CMT and VA recovered to near v1 levels. This study demonstrates that a one-time, brief interruption in treatment for nAMD results in reversible, temporary worsening.

PMID:36823223 | DOI:10.1038/s41598-023-29819-y

Sci Rep. 2023 Feb 23;13(1):3150. doi: 10.1038/s41598-023-30201-1.

ABSTRACT

Since the dawn of comparative cognitive research, dogs were suspected to possess some capacity for responding to human spoken language. Neuroimaging studies have supported the existence of relevant mechanisms, but convincing behavioral performance is rare, with only few exceptional dogs worldwide demonstrating a lexicon of object-labels they respond to. In the present study we aimed to investigate if and how a capacity for processing verbal stimuli is expressed in dogs (N = 20), whose alleged knowledge of verbal labels is only backed-up by owner reports taken at face value, and concerning only a few words (on average 5). Dogs were tested in a two-choice paradigm with familiar objects. The experiment was divided into a cue-control condition (objects visible to the owner vs. shielded by a panel, thereby controlling the owner’s ability to emit cues to the dog) and a response type condition (fetching vs. looking). Above chance performance in fetching and looking at the named object emerged on the level of the sample as a whole. Only one individual performed reliably above chance, but the group-level effect did not depend on this data point. The presence of the panel also had no influence, which supports that performance was not driven by non-verbal cues from the owners. The group-level effect suggests that in typical dogs object-label learning is an instable process, either due to the animals primarily engaging in contextual learning or possibly analogous to the early stages of implicit, statistical learning of words in humans and opposed to the rapid mapping reported in exceptional dogs with larger passive vocabulary.

PMID:36823218 | DOI:10.1038/s41598-023-30201-1

Sci Rep. 2023 Feb 23;13(1):1343. doi: 10.1038/s41598-023-28406-5.

ABSTRACT

Stature is a biological trait directly determined by the interaction of genetic and environmental components. As such, it is often evaluated as an indicator for the reconstruction of skeletal biological profiles, past health, and social dynamics of human populations. Based on the analysis of 549 skeletons from the CAL (Collezione Antropologica LABANOF), a study of the diachronic trend of male and female adult stature in Milan (Italy) is being proposed here, covering a time span of about 2000 years, ranging from the Roman era to present-days. The skeletons, from necropolises dedicated to the less wealthy classes of Milanese society, were assigned to one of following five historical periods: Roman Era (first-fifth centuries AD), Early Middle Ages (sixth-tenth centuries AD), Late Middle Ages (eleventh-fifteenth centuries AD), Modern Era (sixteenth-eighteenth centuries AD) and Contemporary Era (nineteenth-twentieth centuries AD), and their stature was estimated according to the regression formulae of Trotter (1970). The collected data were then subjected to statistical analyses with ANOVA using R software. Although stature values showed an ample standard deviation in all periods, statistical analyses showed that stature did not significantly vary across historical periods in Milan for both sexes. This is one of the rare studies showing no diachronic changes in the trend of stature in Europe.

PMID:36823210 | DOI:10.1038/s41598-023-28406-5

Transl Psychiatry. 2023 Feb 23;13(1):69. doi: 10.1038/s41398-023-02341-5.

ABSTRACT

Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studies have shown TS to be correlated with other phenotypes, but large-scale phenome wide analyses in biobank level data have not been performed to date. In this study, we used the summary statistics from the latest meta-analysis of TS to calculate the polygenic risk score (PRS) of individuals in the UK Biobank data and applied a Phenome Wide Association Study (PheWAS) approach to determine the association of disease risk with a wide range of phenotypes. A total of 57 traits were found to be significantly associated with TS polygenic risk, including multiple psychosocial factors and mental health conditions such as anxiety disorder and depression. Additional associations were observed with complex non-psychiatric disorders such as Type 2 diabetes, heart palpitations, and respiratory conditions. Cross-disorder comparisons of phenotypic associations with genetic risk for other childhood-onset disorders (e.g.: attention deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and obsessive-compulsive disorder [OCD]) indicated an overlap in associations between TS and these disorders. ADHD and ASD had a similar direction of effect with TS while OCD had an opposite direction of effect for all traits except mental health factors. Sex-specific PheWAS analysis identified differences in the associations with TS genetic risk between males and females. Type 2 diabetes and heart palpitations were significantly associated with TS risk in males but not in females, whereas diseases of the respiratory system were associated with TS risk in females but not in males. This analysis provides further evidence of shared genetic and phenotypic architecture of different complex disorders.

PMID:36823209 | DOI:10.1038/s41398-023-02341-5

Sci Rep. 2023 Feb 23;13(1):3177. doi: 10.1038/s41598-023-27603-6.

ABSTRACT

It is difficult to directly obtain pathological diagnosis of perihilar cholangiocarcinoma (pCCA). Analysis of bile in the pCCA microenvironment, based on metabolomics and statistical methods, can help in clinical diagnosis. Clinical information, bile samples, blood liver function, blood CA199, CEA, and other indicators were collected from 33 patients with pCCA and 16 patients with gallstones. Bile samples were analyzed using untargeted metabolomics methods. A combination of multivariate and univariate analyses were used to screen for potential differential metabolites Through Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment and differential metabolite remodeling, we explored changes in the pCCA pathway and potential therapeutic targets. There were significant differences in patient blood TBIL, ALT, AST, TBA, CA19-9, and CEA indices (p < 0.05, |log2(fc)| ≥ 1) between two groups. A significant correlation was found between these different indicators by Spearman’s analysis. The clinical parameters were correlated with mass-to-charge ratios of 305 (Positive Ion Mode, POS) and 246 (Negative Ion Mode, NEG) in the metabolic group (|r| ≥ 0.7, P ≤ 10^-7). The result of this study indicated that bile untargeted metabolomics combined with statistical analysis techniques may be used for diagnose and treatment of pCCA.

PMID:36823159 | DOI:10.1038/s41598-023-27603-6