Notes

Myelin-associated oligodendrocyte standard necessary protein rs616147 polymorphism as a danger element regarding Parkinson's disease.
As mobile technologies become ever more sensor-rich, portable, and ubiquitous, data captured by smart devices are lending rich insights into users' daily lives with unprecedented comprehensiveness and ecological validity. A number of human-subject studies have been conducted to examine the use of mobile sensing to uncover individual behavioral patterns and health outcomes, yet minimal attention has been placed on measuring living environments together with other human-centered sensing data. Moreover, the participant sample size in most existing studies falls well below a few hundred, leaving questions open about the reliability of findings on the relations between mobile sensing signals and human outcomes.

To address these limitations, we developed a home environment sensor kit for continuous indoor air quality tracking and deployed it in conjunction with smartphones, Fitbits, and ecological momentary assessments in a cohort study of up to 1,584 college student participants per data type for 3 weeks. We propose a conceptual framework that systematically organizes human-centric data modalities by their temporal coverage and spatial freedom. Then we report our study procedure, technologies and methods deployed, and descriptive statistics of the collected data that reflect the participants' mood, sleep, behavior, and living environment.

We were able to collect from a large participant cohort satisfactorily complete multi-modal sensing and survey data in terms of both data continuity and participant adherence. Our novel data and conceptual development provide important guidance for data collection and hypothesis generation in future human-centered sensing studies.
We were able to collect from a large participant cohort satisfactorily complete multi-modal sensing and survey data in terms of both data continuity and participant adherence. Our novel data and conceptual development provide important guidance for data collection and hypothesis generation in future human-centered sensing studies.Genetic and prenatal environmental factors shape fetal development and cardiometabolic health in later life. A key target of genetic and prenatal environmental factors is the epigenome of the placenta, an organ that is implicated in fetal growth and diseases in later life. This study had two aims 1) to identify and functionally characterize placental variably methylated regions (VMRs), which are regions in the epigenome with high interindividual methylation variability; 2) to investigate the contributions of fetal genetic loci and 12 prenatal environmental factors (maternal psychosocial-, cardiometabolic-, demographic-, and obstetric- related) on methylation at each VMR. Akaike's information criterion was used to select the best model out of four models (prenatal environment only, genotype only, additive effect of genotype and prenatal environment [G + E], and their interaction effect [GxE]). We identified 5850 VMRs in placenta. Methylation at 70% of VMRs was best explained by GxE followed by genotype only (17.7%), and G + E (12.3%). Prenatal environment alone best explained only 0.03% of VMRs. We observed that 95.4% of GxE models and 93.9% of G + E models included maternal age, parity, delivery mode, maternal depression, or gestational weight gain. DNA Damage inhibitor VMR methylation sites and their regulatory genetic variants were enriched (P  less then  0.05) for genomic regions that have known links with regulatory functions and complex traits. This study provided a genome-wide catalog of VMRs in placenta and highlighted that variation in placental DNA methylation at loci with regulatory and trait relevance is best elucidated by integrating genetic and prenatal environmental factors, and rarely by environmental factors alone.
To provide an overview of the challenges encountered during the interpretation of sequence variants detected by next-generation sequencing (NGS) in myeloid neoplasms, as well as the limitations of the technology with the goal of preventing the over- or undercalling of alterations that may have a significant effect on patient management.

Review of the peer-reviewed literature on the interpretation, reporting, and technical challenges of NGS assays for myeloid neoplasms.

NGS has been integrated widely and rapidly into the standard evaluating of myeloid neoplasms. Review of the literature reveals that myeloid sequence variants are challenging to detect and interpret. Large insertions and guanine-cytosine-heavy areas prove technically challenging while frameshift and truncating alterations may be classified as variants of uncertain significance by tertiary analysis informatics pipelines due to their absence in the literature and databases.

The analysis and interpretation of NGS results in myeloid neoplasia are challenging due to the varied number of detectable gene alterations. Familiarity with the genomic landscape of myeloid malignancies and knowledge of the tools available for the interpretation of sequence variants are essential to facilitate translation into clinical and therapy decisions.
The analysis and interpretation of NGS results in myeloid neoplasia are challenging due to the varied number of detectable gene alterations. Familiarity with the genomic landscape of myeloid malignancies and knowledge of the tools available for the interpretation of sequence variants are essential to facilitate translation into clinical and therapy decisions.
We aimed to investigate if differences in gut microbiota diversity and composition are associated with post-operative alcohol intake following bariatric surgery in a rat model.

Twenty-four female rats were randomized to three treatment groups sham surgery, vertical sleeve gastrectomy (VSG) or Roux-en-Y gastric bypass (RYGB). Stool was collected pre- and post-operatively and 16S rRNA gene amplification and sequencing was performed. Analysis focused on correlating microbial diversity, type of surgery and alcohol (EtOH) intake.

Pre-operative stools samples on regular diet showed similar taxonomic composition and Shannon diversity among the three treatment groups. There was a significant decrease in Shannon diversity and a change in taxonomic composition of the gut microbiota after rats was fed high fat diet. Post-operatively, the RYGB group showed significantly lower taxonomic diversity than the VSG and sham groups, while the VSG and sham groups diversity were not significantly different. Taxonomic composition and function prediction based on PICRUSt analysis showed the RYGB group to be distinct from the VSG and sham groups. Shannon diversity was found to be negatively associated with EtOH intake.

Changes in the taxonomic profile of the gut microbiota following bariatric surgery, particularly RYGB, are associated with increased EtOH intake and may contribute to increased alcohol use disorder risk through the gut-brain-microbiome axis.
Changes in the taxonomic profile of the gut microbiota following bariatric surgery, particularly RYGB, are associated with increased EtOH intake and may contribute to increased alcohol use disorder risk through the gut-brain-microbiome axis.There is limited evidence for the effectiveness of adjuvant chemotherapy in esophageal squamous cell carcinoma (ESCC). This study aimed to assess whether adjuvant capecitabine and cisplatin improve survival compared to surgery alone among patients with locally advanced ESCC. This is a multicenter randomized controlled trial. Patients were eligible if they underwent curative resection for ESCC staged T2-4 or N1 and M0 according to the TNM cancer staging system sixth edition. The intervention group received four cycles of adjuvant chemotherapy (capecitabine 1,000 mg/m 2 b.i.d for 14 days, and intravenous cisplatin 75 mg/m2 at day 1, every 3 weeks). A total of 136 patients were randomly assigned to either the adjuvant chemotherapy group (n = 68) or surgery-alone group (n = 68). Seven patients who rejected chemotherapy after randomization were excluded from the final analysis. The cumulative incidence of recurrence within 18 months after surgery was significantly lower in the adjuvant chemotherapy group than in the surgery-alone group (hazard ratio [HR] 0.49; 95% confidence interval (CI) 0.25-0.95]. However, the 5- and 10-year disease-free survival did not differ between treatment groups (HR 0.84; 95% CI 0.53-1.34 and HR 0.76; 95% CI 0.50-1.18, respectively). Adjuvant chemotherapy after curative resection in patients with locally advanced ESCC reduced early recurrence but had no statistically significant increase in the long-term disease-free survival. Due to the limited sample size of this study, additional randomized controlled trials with larger sample sizes are necessary.Debates surrounding genetic privacy have taken on different forms over the past 30 years. Taking genetic privacy to mean an interest that individuals, families, or even communities have with respect to genetic information, we examine the metaphors used in these debates to chronicle the development of genetic privacy. In 1990-2000, we examine claims for ownership and of 'humanity' spurred by the launch of the Human Genome Project and related endeavors. In 2000-2010, we analyze the interface of law and ethics with research infrastructures such as biobanks, for which notions of citizenship and 'public goods' were central. In 2010-2020, we detail the relational turn of genetic privacy in response of large international research consortia and big data. While each decade had its leading conceptions of genetic privacy, the subject is neither strictly chronological nor static. We conclude with reflections on the nature of genetic privacy and the necessity to bring together the unique and private genetic self with the human other.
Takotsubo syndrome (TTS) is an acute heart failure, typically triggered by high adrenaline during physical or emotional stress. It is distinguished from myocardial infarction (MI) by a characteristic pattern of ventricular basal hypercontractility with hypokinesis of apical segments, and absence of coronary occlusion. We aimed to understand whether recently discovered circulating biomarkers miR-16 and miR-26a, which differentiate TTS from MI at presentation, were mechanistically involved in the pathophysiology of TTS.

miR-16 and miR-26a were co-overexpressed in rats with AAV and TTS induced with an adrenaline bolus. Untreated isolated rat cardiomyocytes were transfected with pre-/anti-miRs and functionally assessed. Ventricular basal hypercontraction and apical depression were accentuated in miR-transfected animals after induction of TTS. In vitro miR-16 and/or miR-26a overexpression in isolated apical (but not basal) cardiomyocytes produced strong depression of contraction, with loss of adrenaline sensit now starting to reach the clinic.The use of enzymes as biocatalysts in industrial applications has received much attention during the last few years. Lipases are widely employed in the food and cosmetic industry, for the synthesis of novel biomaterials and as a greener solution for the treatment of waste cooking oils (WCO). The latter topic has been widely explored with the use of enzymes from several origins and types, for the treatment of different used and non-used cooking oils. The experimental conditions of such works are also quite broad, hampering the detailed understanding of the process. In this work we present a detailed characterization of the interaction of several commonly used lipases with different types of vegetal oils and food fats through coarse-grained molecular dynamics simulations. First, the molecular details of the oil/water (O/W) mixtures, namely at the O/W interface, are described. The O/W interface was found to be enriched in triglyceride molecules with higher polarity. Then, the interaction of lipases with oil mixtures is characterized from different perspectives, including the identification of the most important protein residues for this process.
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