Miracle-dz/UniFAR-FTUs huggingface dataset:
Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma

Abstract Introduction Pheochromocytomas and paragangliomas (PPGLs) are highly heritable tumours, with up to 40% of cases carrying germline variants. Current guidelines recommend genetic testing for all patients with PPGLs. Next-generation sequencing (NGS) enables accurate, fast, and inexpensive genetic testing. This study aimed to compare the costs related to PPGL genetic testing between the sequential testing using the decisional algorithm proposed in the 2014 Endocrine Society guidelines and targeted NGS gene panels. Methods Patients with proven PPGLs were enrolled. A gene list covering 17 susceptibility genes related to hereditary PPGLs was developed for targeted sequencing. Validation was carried out by Sanger sequencing. We simulated the diagnostic workflow to examine the anticipated costs based on each strategy for genetic testing. Results Twenty-nine patients were included, among whom a germline variant was identified in 34.5%. A total of 22.7% with apparently sporadic PPGL carried a variant. Five genes were involved (RET, n = 3; SDHB, n = 3; SDHD, n = 2; EGLN1, n = 1; and NF1, n = 1). According to the diagnostic workflow, the average cost of the targeted NGS (534.7 US dollars per patient) is lower than that of the sequential testing (734.5 US dollars per patient). The targeted NGS can also reduce the number of hospital visits from 4.1 to 1 per person. The cost can be further reduced to 496.24 US dollars per person (32% reduction) if we apply a new syndromic-driven diagnostic algorithm to establish priorities for specific genetic testing for syndromic and selected cases, and targeted NGS for non-syndromic patients. Conclusions Targeted NGS can reduce both the cost of PPGL genetic testing and the number of hospital visits, compared with the conventional approach. Our proposed algorithm is the preferred approach due to its significant reduction of the cost of genetic testing. Key message Pheochromocytomas and paragangliomas are highly heritable neoplasms. The targeted next-generation sequencing (NGS) gene panels have proven to be fast, accurate, and inexpensive for the genetic analysis. According to this cost analysis, it is economically reasonable to use targeted NGS gene panels for genetic screening.
Inorganic nitrate attenuates cardiac dysfunction: roles for xanthine oxidoreductase and nitric oxide

NO is a vasodilator and independent modulator of cardiac remodelling. Commonly, in cardiac disease (e.g., heart failure), endothelial dysfunction (synonymous with NO deficiency) has been implicated in increased BP, cardiac hypertrophy and fibrosis. Currently, no effective therapies replacing NO have succeeded in the clinic. Inorganic nitrate (NO3−), through chemical reduction to nitrite and then to NO, exerts potent BP lowering, but whether it might be useful in treating undesirable cardiac remodelling is not known.
Evaluating Research in Personality and Social Psychology: Considerations of Statistical Power and Concerns About False Findings

Traditionally, statistical power was viewed as relevant to research planning but not evaluation of completed research. However, following discussions of high false finding rates (FFRs) associated with low statistical power, the assumed level of statistical power has become a key criterion for research acceptability. Yet, the links between power and false findings are not as straightforward as described. Assumptions underlying FFR calculations do not reflect research realities in personality and social psychology. Even granting the assumptions, the FFR calculations identify important limitations to any general influences of statistical power. Limits for statistical power in inflating false findings can also be illustrated through the use of FFR calculations to (a) update beliefs about the null or alternative hypothesis and (b) assess the relative support for the null versus alternative hypothesis when evaluating a set of studies. Taken together, statistical power should be de-emphasized in comparison to current uses in research evaluation.
Americium in the marine environment-relationships to plutonium. [Comparison of /sup 241/Am with /sup 239/Pu and /sup 240/Pu]

The behavior of /sup 241/Am in the marine environment, and by analogy other transplutonium nuclides, is compared and contrasted with that of /sup 239/,/sup 240/Pu. Radiochemical data for these nuclides in seawater, sediments, and organisms contaminated mostly by global fallout, are used to generate the ratio /sup 241/Am//sup 239/,/sup 240/Pu. It is used as an index of fractionation between Pu and Am. The average value for this ratio (0.20) found in shallow nearshore sediments is proposed as representative by mid-73 of integrated, unfractionated fallout at mid-latitudes in the Northern Hemisphere. No fractionation between Am and Pu has been found in these sediments even under conditions when they are being lost from the sediment following upward vertical migration. Higher ratios in deep ocean water and sediments suggest that Am sinks more quickly than Pu in the water column. Data for some marine organisms, mostly algae, suggest that while Am may frequently be concentrated to a degree similar to that for Pu, some organisms may discriminate against, others in favor of, Am relative to Pu.
Depression, anxiety and stress among Swedish university students during the second and third waves of COVID-19: A cohort study

Our research group recently reported that symptom levels of depression, anxiety, and stress among Swedish university students were relatively stable during the first three months of COVID-19 and decreased slightly during the following three summer months. Since then, Sweden has faced a second and third wave of COVID-19. Aims: This study aims to describe the mean trajectories of depression, anxiety and stress symptoms among Swedish university students before and during the second and third waves of the COVID-19 pandemic. Methods: We recruited 1835 participants in September 2020, of whom 81% provided follow-ups in December 2020–January 2021 and 77% provided follow-ups in March–April 2021. The short-form Depression, Anxiety and Stress Scale was used to measure mental health symptoms. Generalized estimating equations were used to estimate the mean differences in symptom levels over the three time periods. Results: Compared with September, mean depression was 0.91 points of 21 higher (95% confidence interval (CI) 0.70–1.13) in December 2020–January 2021 and 0.66 points higher (95% CI 0.43–.88) in March–April 2021. Anxiety levels were 0.20 points higher (95% CI 0.05–0.34) in December 2020–January 2021 and 0.17 points higher (95% CI 0.02–0.33) in March–April 2021. Stress levels were 0.21 points higher (95% CI 0.00–0.41) in December 2020–January 2021 and 0.16 points lower (95% CI −0.38 to 0.05) in March–April 2021. Conclusions: Our results indicate relatively stable levels of mental health among Swedish university students during the second and third waves of COVID-19 compared with before the second wave. Mean depression symptom scores increased slightly, but the importance of this small increase is uncertain.
Are colored periodontal probes reliable to classify the gingival phenotype in terms of gingival thickness?

BACKGROUND This cross-sectional study assessed the potential of colored periodontal probes (CPP) to classify gingival phenotype in terms of gingival thickness (GT). METHODS Buccal GT in 3 anterior teeth in each of 50 patients was measured by transgingival sounding and classified by 3 different methods by 8 examiners. Specifically, the diagnostic potential of visual judgement and transparency of a standard periodontal probe (SPP) to discriminate thin and thick gingiva, and of CPP to discriminate thin, medium, thick, or very thick gingiva was assessed. RESULTS GT ranged from 0.57-2.37mm. Using CPP resulted in a medium judgement in 87% of the cases, on average, and only between 1-10 cases/examiner were judged as thick or very thick. Considering 1mm GT as relevant cut-off value, all methods showed a high positive predictive value (≥0.82) to identify thick cases, but also a high false omission rate (≥0.73) indicating that many cases classified as thin were actually thick. Further, 88% of the cases being ≤1mm, were not classified as thin with CPP; this was inferior to SPP, for which, however, still 64% of the cases being ≤1mm thick were wrongly classified. The highest, yet moderate agreement among examiners was achieved by SPP (κ = 0.427), while visual judgement and CPP showed only fair (κ = 0.211) and slight agreement (κ = 0.112), respectively. CONCLUSION Using CPP resulted in most of the cases in a medium judgement. It seems that CPP cannot distinctly discriminate between "thick" and "very thick" cases and fails to capture the thin high-risk cases. This article is protected by copyright. All rights reserved.
Oxytocin levels tend to be lower in autistic children: A meta-analysis of 31 studies

The oxytocin system may be different in autistic people, which could explain some of the deficits in social behavior and cognition associated with autism spectrum disorder. However, studies comparing oxytocin levels in autistic and neurotypical individuals have shown conflicting results and a 2016 meta-analysis on seven studies concluded that there was no significant difference. Here, we greatly expanded the sample of studies to 31, warranting a reassessment of this finding. We searched Web of Science with MEDLINE®, SciELO Citation Index, and BIOSIS Citation Index for articles that measured oxytocin in plasma/serum (k = 26 studies), saliva (4), or cerebrospinal fluid (1) in autistic individuals (total n = 1233 participants) compared to neurotypical individuals (n = 1304). We found that oxytocin levels were significantly lower in autistic people (Cohen’s d = −0.36, 95% confidence interval = [−0.61, −0.10], p = 0.007), with no evidence for publication bias. This overall effect was driven entirely by differences among children (k = 25, d = −0.44, 95% confidence interval = [−0.72, −0.16], p = 0.002) but not adults (k = 6, d = 0.03, 95% confidence interval = [−0.55, 0.61], p = 0.92). These results support further research into the use of oxytocin to treat social deficits in children. Lay abstract Oxytocin is a hormone that mediates interpersonal relationships through enhancing social recognition, social memory, and reducing stress. It is released centrally into the cerebrospinal fluid, as well as peripherally into the blood, where it can easily be measured. Some studies indicate that the oxytocin system with its social implications might be different in people with autism spectrum disorder. With summarizing evidence of 31 studies, this meta-analysis suggests that children with autism spectrum disorder have lower blood oxytocin levels compared to neurotypical individuals. This might not be the case for adults with autism spectrum disorder, where we could not find a difference. Our findings motivate further exploration of the oxytocin system in children with autism spectrum disorder. This could lead to therapeutic options in treating autism spectrum disorder in childhood.
IRTA1 positivity helps identify a MALT‐lymphoma‐like subset of primary cutaneous marginal zone lymphomas, largely but not exclusively defined by IgM expression

It has been proposed that primary cutaneous marginal zone lymphomas (PCMZLs) include a MALT‐lymphoma‐like IgM+ subset and a class‐switched subset, which is unlike most other MALT lymphomas. Whether expression of the MALT lymphoma‐associated biomarkers IRTA1 and MNDA would support this concept and whether they might help explain why some patients have both subtypes is uncertain.
The Attitude–Behavior Relationship Revisited

The attitude–behavior relationship is of great import to many areas of psychology. Indeed, psychologists across disciplines have published thousands of articles on the topic. The majority of this research implies that the attitude–behavior relationship is linear. However, observations from 4,101 participants on Amazon’s Mechanical Turk and 321,876 online reviews demonstrate that this relationship is systematically nonlinear. Across diverse topics, measures, and contexts, as attitudes move from extremely negative to extremely positive, the corresponding shift in behavior tends to be relatively flat at first (as attitudes move from extremely to moderately negative), to steepen when attitudes cross neutral and shift from negative to positive, and to taper off again as attitudes move from moderately to extremely positive. This result can be explained on the basis of research on categorical perception. The present research suggests a fundamental pivot in how researchers construe, study, and assess the attitude–behavior relationship.
A survey of visual impairment and blindness in children attending eight schools for the blind in Myanmar: An update

Purpose: To determine the causes of visual impairment (VI) and blindness among children in schools for the blind in Myanmar; to identify the avoidable causes of VI and blindness; to provide spectacles, low-vision aids, and ophthalmic treatment where indicated; to provide an update of the 2007 survey performed and identify any major epidemiological changes. Methods: Two hundred and ninety children under 16 years of age from all eight schools for the blind in Myanmar were examined and the data entered into the World Health Organization Prevention of Blindness Examination Record for Childhood Blindness. Results: In total, 271 children (93.4%) were blind (visual acuity [VA] <3/60 in the better eye) and 15 (5.17%) had severe visual impairment (SVI = VA <6/60 to 3/60 in the better eye). Most children had whole globe as the major anatomical site of SVI or blindness (105, 36.6%). The cause was unknown in the majority of these (155, 54.0%). One hundred and twelve children had avoidable causes of blindness and SVI (39.0%). Forty children (13.9%) required an optical device and 10.1% required surgical or medical attention, with a potential for visual improvement through intervention in 3.48%. Conclusion: In all, 39.0% of children had potentially avoidable causes of SVI and blindness with cataracts and measles being the commonest causes. This follow-up survey performed after the first one completed in Myanmar in 2007 demonstrates a change in the major site of abnormality from the cornea to whole globe and a reduction in avoidable blindness but highlights the ongoing burden of measles.
The speech and language profile of a child with Turner Syndrome– a case study

ABSTRACT Background Turner syndrome is a genetic disorder that affects only females. It has specific cognitive characteristics, but speech and language data are scarce. Methods and procedures Prospective case report; we report a girl aged seven’s cognitive and speech and language profile. Results Cognitive assessment shows higher performance IQ (PIQ), and atypical cognitive profile for Turner syndrome. Speech and language assessment show a significant difference between receptive and expressive language levels. Although the girl did comprehend most of the language structure, there was a lack of it in spontaneous speech. She demonstrated inconsistency in the use of language morphology and complex linguistic structures, primarily because of significant inconsistency in her sound production. Although she produced the majority of phonemes correctly in isolation, her spontaneous speech production was incomprehensible. Conclusion Case studies of speech and language development may reveal a specific characteristic in the cases with Turner syndrome to delineate genetic factors from individual developmental variabilities.
Clinical effect of electrical stimulation biofeedback therapy combined with pelvic floor functional exercise on postpartum pelvic organ prolapse.

OBJECTIVE To investigate the clinical effect of electrical stimulation biofeedback therapy combined with pelvic floor functional exercise on postpartum pelvic organ prolapse. METHODS One hundred and four patients with postpartum pelvic organ prolapse were randomly divided into two groups. There were 52 patients in the control group who were given pelvic floor function exercise. Another 52 patients in the study group were given electrical stimulation biofeedback therapy combined with pelvic floor functional exercises. The clinical efficacy, pelvic floor pressure (contraction pressure, resting pressure, contraction duration), improvement of pelvic floor prolapse, pelvic floor surface muscle potential, quality of sex life and quality of life (PFIQ-7 score and PFDI-20 score) were compared between the two groups. RESULTS After the therapy, the total effective rate of the study group was higher than that of the control group (P<0.05). The contraction pressure, resting pressure and vaginal contraction duration of the two groups all increased, and the indexes of the study group were higher than those of the control group (P<0.05). The pelvic floor prolapse degree of the two groups tended to be 0 degrees and I light, and the improvement of the study group was better than that of the control group (P<0.05). The average and maximum average values of the resting stage, endurance test stage and re-resting stage of the two groups all increased, and the fast muscle contraction time, fast muscle relaxation time and variability value all decreased, and the improvement of the study group was better than that of the control group (P<0.05). The scores of sexual satisfaction, sexual anxiety, sexual communication, sexual reaction, sexual attitude and sexual body image of the two groups all increased, and the scores of the study group were higher than those of the control group (P<0.05). The scores of PFIQ-7 and PFDI-20 in the two groups all decreased, and the scores of the study group were lower than those of the control group (P<0.05). CONCLUSION Electrical stimulation biofeedback therapy combined with pelvic floor functional exercise has a noticeable curative effect and can significantly alleviate pelvic floor prolapse and improve the sex life and quality of life of patients.
The application value of informatization-based extended nursing care on discharged children with leukemia.

OBJECTIVES This study explored and analyzed the application value of informatization-based extended care on children discharged with leukemia. METHODS 109 children receiving chemotherapy for acute leukemia in our hospital from January 2018 to January 2020 were selected as research subjects. The children were divided into the control group (n=53) and the observation group (n=56) on the basis of admission time point. The control-group children were given conventional nursing measures, and the observation-group children received informatization-based extended nursing care. Patients, self-care ability and their satisfaction with nursing care, and children's quality of life, anxiety and depression between the two groups were compared prior and post intervention. RESULTS After intervention, the score in each dimension and the total scores of caring abilities in the two groups of patients increased remarkably than those before intervention (P<0.05), and the caring skills, health knowledge and the improvement of total score of nursing ability in observation group was more obvious than which in the control group (P<0.05). Besides, the score in each dimension and the total scores of the living quality in the two groups of children after intervention increased significantly than those before intervention (P<0.05), and the indexes in observation group were remarkably higher than those in control group (P<0.05). The scores of anxiety and depression in both groups after intervention were significantly lower than those before intervention (P<0.05), and the reduction degree in observation group was greater than that in control group (P<0.05). In addition, the satisfaction rate of parents in observation group was notably higher than that in control group (P<0.05). CONCLUSION The informatization-based extended nursing care can effectively promote the nursing ability of parents on children with acute leukemia, improve the life quality of children and reduce their adverse psychological moods, which is conducive to improving the nursing satisfaction, and is worthy of clinical promotion.
Thermodynamic modeling of trivalent Am, Cm and Eu-citrate complexation in concentrated NaClO4 media

Abstract The dissociation constants of citric acid (Cit), and the stability constants of Am3+, Cm3+and Eu3+ with Cit were determined as a function of ionic strength (NaClO4) using potentiometric titration and an extraction technique, respectively. The results have shown the presence of both 1:1 and 1:2 complexes under the experimental conditions. A thermodynamic model was constructed to predict the apparent stability constants at different ionic strengths by applying the Pitzer ionic interaction parameters β(0), β(1), and Cφ which were obtained to fit the experimental data. Thermodynamic stability constants of M(Cit) and M(Cit)23- (where M = Am3+, Cm3+ or Eu3+) were calculated to be log β0101 = 9.91 ± 0.10, log β0102 = 14.47 ± 0.14 for Am3+, log β0101 = 9.53 ± 0.16, log β0102 = 14.46 ± 0.16 for Cm3+ and log β0101 = 9.82 ± 0.14, log β0102 = 13.31 ± 0.12 for Eu3+ as obtained by extrapolation to zero ionic strength.
Brain morphology, autistic traits, and polygenic risk for autism: A population‐based neuroimaging study

Autism spectrum disorders (ASD) are associated with widespread brain alterations. Previous research in our group linked autistic traits with altered gyrification, but without pronounced differences in cortical thickness. Herein, we aim to replicate and extend these findings using a larger and older sample. Additionally, we examined whether (a) brain correlates of autistic traits were associated with polygenic risk scores (PRS) for ASD, and (b) autistic traits are related with brain morphological changes over time in a subset of children with longitudinal data available. The sample included 2400 children from the Generation R cohort. Autistic traits were measured using the Social Responsiveness Scale (SRS) at age 6 years. Gyrification, cortical thickness, surface area, and global morphological measures were obtained from high‐resolution structural MRI scans at ages 9‐to‐12 years. We performed multiple linear regression analyses on a vertex‐wise level. Corresponding regions of interest were tested for association with PRS. Results showed that autistic traits were related to (a) lower gyrification in the lateral occipital and the superior and inferior parietal lobes, (b) lower cortical thickness in the superior frontal region, and (c) lower surface area in inferior temporal and rostral middle frontal regions. PRS for ASD and longitudinal analyses showed significant associations that did not survive correction for multiple testing. Our findings support stability in the relationship between higher autistic symptoms and lower gyrification and smaller surface areas in school‐aged children. These relationships remained when excluding ASD cases, providing neurobiological evidence for the extension of autistic traits into the general population.