Miracle-dz/UniFAR-FTUs huggingface dataset:
The Effect of Lifestyle Intervention on Health-Related Quality of Life in Adults with Metabolic Syndrome: A Meta-Analysis

The aim of this meta-analysis was to assess the effects of a lifestyle intervention through health education on nutrition, physical activity, and healthy habits on physical and mental health-related quality of life (HRQoL), in adults with metabolic syndrome (MetS). The databases used were PubMed, WOS, and Scopus. The inclusion criteria were: observational, longitudinal and randomized clinical trial (RCT) study designs, adults (both sexes), with at least two criteria of MetS, lifestyle intervention and comparison with a control group, and a measurement of HRQoL with a validated questionnaire. We analyzed the Hedges’ g and SF-36 score. I2 statistics were calculated and possible publication and small study biases were assessed using Egger’s test and funnel plots. Seven RCTs were selected for meta-analysis, based on 637 study participants. Significant improvements were found in the physical dimensions of the HRQoL scores for subjects in the active intervention compared to the group that received general lifestyle information (Hedges’ g 0.61, 95% confidence interval (CI) = 0.31–0.91). Mental health-related quality of life was also significantly improved in the intervention group compared with the control group (Hedges’ g 0.84, 95% CI = 0.64–1.03). In conclusion, our results suggest that, according to the RCTs selected for this meta-analysis, a lifestyle intervention significantly improves HRQoL in all its domains.
Preliminary Identification of Key Genes Controlling Peach Pollen Fertility Using Genome-Wide Association Study

Previous genetic mapping helped detect a ~7.52 Mb putative genomic region for the pollen fertility trait on peach Chromosome 06 (Chr.06), which was too long for candidate gene characterization. In this study, using the whole-genome re-sequencing data of 201 peach accessions, we performed a genome-wide association study to identify key genes related to peach pollen fertility trait. The significant association peak was detected at Chr.06: 2,116,368 bp, which was in accordance with the previous genetic mapping results, but displayed largely improved precision, allowing for the identification of nine candidate genes. Among these candidates, gene PpABCG26, encoding an ATP-binding cassette G (ABCG) transporter and harboring the most significantly associated SNP (Single Nucleotide Polymorphism) marker in its coding region, was hypothesized to control peach pollen fertility/sterility based on the results of gene function comparison, gene relative expression, and nucleotide sequence analysis. The obtained results will help us to understand the genetic basis of peach pollen fertility trait, and to discover applicable markers for pre-selection in peach.
Medical costs of Japanese lung cancer patients during end-of-life care.

OBJECTIVE The medical costs associated with cancer treatment have increased rapidly in Japan; however, little data exist on actual costs, especially for end-of-life care. Therefore, this study aimed to examine the medical costs of lung cancer patients during the last 3 months before death and to compare the costs with those of initial anticancer treatment. METHODS We retrospectively evaluated all patients who died from lung cancer at the Japanese Red Cross Medical Center between 1 January 2008 and 31 August 2019. Patients were classified into three cohorts (2008-2011, 2012-2015 and 2016-2019) according to the year of death; the medical costs were evaluated for each cohort. Costs were then divided into outpatient and inpatient costs and calculated per month. RESULTS Seventy-nine small cell lung cancer and 213 non-small cell lung cancer patients were included. For small cell lung cancer and non-small cell lung cancer patients, most end-of-life medical costs were inpatient costs across all cohorts. The median monthly medical costs for the last 3 months among both small cell lung cancer and non-small cell lung cancer patients did not differ significantly among the cohorts, but the mean monthly costs for non-small cell lung cancer tended to increase. The monthly medical costs for the last 3 months were significantly higher than those for the first year in SCLC (P = 0.013) and non-small cell lung cancer (P < 0.001) patients and those for the first 3 months in non-small cell lung cancer patients (P = 0.005). CONCLUSIONS The medical costs during the end-of-life period for lung cancer were high and surpassed those for initial treatment.
Genome‐wide hypermethylation is closely associated with abnormal expression of genes involved in neural development in induced pluripotent stem cells derived from a Down syndrome mouse model

Mental retardation is the main clinical manifestation of Down syndrome (DS), and neural abnormalities occur during the early embryonic period and continue throughout life. Tc1, a model mouse for DS, carries the majority part of the human chromosome 21 and has multiple neuropathy phenotypes similar to patients with DS. To explore the mechanism of early neural abnormalities of Tc1 mouse, induced pluripotent stem (iPS) cells from Tc1 mice were obtained, and genome‐wide gene expression and methylation analysis were performed for Tc1 and wild‐type iPS cells. Our results showed hypermethylation profiles for Tc1 iPS cells, and the abnormal genes were shown to be related to neurodevelopment and distributed on multiple chromosomes. In addition, important genes involved in neurogenesis and neurodevelopment were shown to be downregulated in Tc1 iPS cells. In short, our study indicated that genome‐wide hypermethylation leads to the disordered expression of genes associated with neurodevelopment in Tc1 mice during early development. Overall, our work provided a useful reference for the study of the molecular mechanism of nervous system abnormalities in DS.
Comparative Study of Interactions between Human cGAS and Inhibitors: Insights from Molecular Dynamics and MM/PBSA Studies

Recent studies have identified cyclic GMP-AMP synthase (cGAS) as an important target for treating autoimmune diseases, and several inhibitors of human cGAS (hcGAS) and their structures in complexation with hcGAS have been reported. However, the mechanisms via which these inhibitors interact with hcGAS are not completely understood. Here, we aimed to assess the performance of molecular mechanics/Poisson–Boltzmann solvent-accessible surface area (MM/PBSA) in evaluating the binding affinity of various hcGAS inhibitors and to elucidate their detailed interactions with hcGAS from an energetic viewpoint. Using molecular dynamics (MD) simulation and MM/PBSA approaches, the estimated free energies were in good agreement with the experimental ones, with a Pearson’s correlation coefficient and Spearman’s rank coefficient of 0.67 and 0.46, respectively. In per-residue energy decomposition analysis, four residues, K362, R376, Y436, and K439 in hcGAS were found to contribute significantly to the binding with inhibitors via hydrogen bonding, salt bridges, and various π interactions, such as π· · ·π stacking, cation· · ·π, hydroxyl· · ·π, and alkyl· · ·π interactions. In addition, we discussed other key interactions between specific residues and ligands, in particular, between H363 and JUJ, F379 and 9BY, and H437 and 8ZM. The sandwiched structures of the inhibitor bound to the guanidinium group of R376 and the phenyl ring of Y436 were also consistent with the experimental data. The results indicated that MM/PBSA in combination with other virtual screening methods, could be a reliable approach to discover new hcGAS inhibitors and thus is valuable for potential treatments of cGAS-dependent inflammatory diseases.
Genome Analysis of Sable Fur Color Links a Lightened Pigmentation Phenotype to a Frameshift Variant in the Tyrosinase-Related Protein 1 Gene

Sable (Martes zibellina) is one of the most valuable species of fur animals. Wild-type sable fur color varies from sandy-yellow to black. Farm breeding and 90 years of directional selection have resulted in a generation of several sable breeds with a completely black coat color. In 2005, an unusually chocolate (pastel) puppy was born in the Puschkinsky State Fur Farm (Russia). We established that the pastel phenotype was inherited as a Mendelian autosomal recessive trait. We performed whole-genome sequencing of the sables with pastel fur color and identified a frameshift variant in the gene encoding membrane-bound tyrosinase-like enzyme (TYRP1). TYRP1 is involved in the stability of the tyrosinase enzyme and participates in the synthesis of eumelanin. These data represent the first reported variant linked to fur color in sables and reveal the molecular genetic basis for pastel color pigmentation. These data are also useful for tracking economically valuable fur traits in sable breeding programs.
Profiling of Bile Microbiome Identifies District Microbial Population between Choledocholithiasis and Cholangiocarcinoma Patients

Objective: Choledocholithiasis (CDL), a potential risk for cholangiocarcinoma (CCA) development, is often a consequence of bacterial infection. Thus, the microbial population that contributes to CDL might also be involved in CCA development. We compared the microbiome in bile fluid of CDL patients and CCA patients. Methods: Bile samples were collected from CDL (n = 30) and CCA (n =30) patients. Microbial profiling was performed individually by the sequencing of V3-V4 regions of the 16S rRNA gene. Results: Enterobacter, Pseudomonas, and Stenotrophomonas species were much more abundant in bile samples from CCA compared to CDL (p<0.05). However, Cetobacterium, Pyramidobacter, and Streptococcus species were less abundant in bile samples of CCA compared to CDL (p<0.05). Although Escherichia was predominant in the CCA, Escherichia coli itself was more abundant in CDL than in CCA. One CDL case (3.3%) harbored genotoxin-producing E. coli as confirmed by PCR. Enterobacter and Pseudomonas also predominated in CCA according to linear discriminant-analysis effect size. Conclusion: we demonstrated vast differences between microbial communities in bile of CDL and CCA patients. These bacteria might be partly involved in CCA genesis and may provide novel biomarkers for CCA.
On-Demand Scheduling of Command and Responses for Low-Power Multihop Wireless Networks †

Many IoT applications require a mechanism to disseminate commands and collect responses over a wireless network in order to control and collect data from multiple embedded devices. However, severe collisions may occur if a large number of nodes attempt to respond simultaneously and promptly, not only among the responses, but also with the dissemination of commands. This is because low-power wireless network protocols for dissemination and collection have been designed separately. Tuning the parameters of one side of the protocol has clear trade-off between reliability and latency. To address this challenge, we propose SCoRe, an on-demand scheme for joint scheduling of command and responses on multihop low-power wireless networks to improve both reliability and latency simultaneously at runtime. SCoRe gathers the amount of time required by network nodes for dissemination and collection, and allocates relative timeslots to each node recursively over multihop on-demand when (and only when) disseminating a command. While doing so, information exchange occurs only between local neighbor nodes without a need for global routing table nor time synchronization. We implement SCoRe on a low-power embedded platform, and compare with well-known dissemination and collection schemes through both simulations and testbed experiments on 30 devices. Our evaluation results show that SCoRe can improve both latency and reliability without tuning the parameters for one metric, while the legacy schemes require careful parameter selection to match only one side of SCoRe, never both.
Emotional Eating and Weight Status in Adolescents: A Systematic Review

Background: Despite evidence that emotional eating is associated with weight gain in adults, less is known about this association in adolescents. The purpose of the current study was to conduct a systematic review to assess the association between emotional eating and weight status in adolescents. This study also sought to describe existing measures of emotional eating in adolescents and explore weight-loss interventions that assessed emotional eating in relation to weight status in this population. Methods: Two independent reviewers searched the database PubMed for published or in press peer-reviewed studies that assessed the association between emotional eating and weight status in adolescents aged 12 to 19 years. Studies were excluded from this review if they were not written in the English language, did not include a measure of emotional eating, or were a dissertation study. Results: A total of 13 studies met full inclusion criteria and were included in the systematic review. Of the six longitudinal studies in the review, only one found a prospective association between emotional eating and weight status. The Dutch Eating Behavior Questionnaire was the most widely used measure of emotional eating in the systematic review (n = 6; 46.2%). The one intervention study included in this review found that baseline emotional eating was not associated with weight outcomes 2 years following gastric bypass surgery in obese Swedish adolescents (13–18 years). Conclusions: While there were some inconsistent findings across the studies included in this review, taken as a whole, the results largely do not support an association between emotional eating and elevated weight status or reduced weight loss in adolescents.
Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys

Simple Summary Gelsolin amyloidosis is a rare autosomal dominant genetic disease, which typically affects the cornea, skin and sometimes other organ systems and is caused by mutations in a gene coding for gelsolin protein (GSN). We describe a novel mutation of GSN gene, p.Glu580Lys, associated with gelsolin amyloidosis in six members of a two-generation family, who exhibited lattice corneal dystrophy, loose facial skin and irregular heart rhythm. In one patient we reported optic nerve impairment, which is possibly a novel feature associated with gelsolin amyloidosis. Abstract Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys. We studied DNA samples of seven members of a two-generation family. Exome sequencing was performed in the proband, and targeted Sanger sequencing in the others. The heterozygous GSN variant p.Glu580Lys was identified in six patients. The patients exhibited corneal dystrophy (5/6), loose skin (5/6) and/or heart arrhythmia (3/6) and one presented with bilateral optic neuropathy. The impact of the mutation on the protein structure was evaluated in silico. The substitution is located in the fifth domain of gelsolin protein, homologous to the second domain harboring the most common pathogenic variant p.Asp214Asn. Structural investigation revealed that the mutation might affect protein folding. Histopathological analysis showed amyloid deposits in the skin. The p.Glu580Lys is associated with corneal dystrophy, strengthening the association of the fifth domain of gelsolin protein with the typical amyloidosis phenotype. Furthermore, optic neuropathy may be related to the disease and is essential to identify before discussing corneal transplantation.
Deep Learning–Based Multimodal Data Fusion: Case Study in Food Intake Episodes Detection Using Wearable Sensors

Background Multimodal wearable technologies have brought forward wide possibilities in human activity recognition, and more specifically personalized monitoring of eating habits. The emerging challenge now is the selection of most discriminative information from high-dimensional data collected from multiple sources. The available fusion algorithms with their complex structure are poorly adopted to the computationally constrained environment which requires integrating information directly at the source. As a result, more simple low-level fusion methods are needed. Objective In the absence of a data combining process, the cost of directly applying high-dimensional raw data to a deep classifier would be computationally expensive with regard to the response time, energy consumption, and memory requirement. Taking this into account, we aimed to develop a data fusion technique in a computationally efficient way to achieve a more comprehensive insight of human activity dynamics in a lower dimension. The major objective was considering statistical dependency of multisensory data and exploring intermodality correlation patterns for different activities. Methods In this technique, the information in time (regardless of the number of sources) is transformed into a 2D space that facilitates classification of eating episodes from others. This is based on a hypothesis that data captured by various sensors are statistically associated with each other and the covariance matrix of all these signals has a unique distribution correlated with each activity which can be encoded on a contour representation. These representations are then used as input of a deep model to learn specific patterns associated with specific activity. Results In order to show the generalizability of the proposed fusion algorithm, 2 different scenarios were taken into account. These scenarios were different in terms of temporal segment size, type of activity, wearable device, subjects, and deep learning architecture. The first scenario used a data set in which a single participant performed a limited number of activities while wearing the Empatica E4 wristband. In the second scenario, a data set related to the activities of daily living was used where 10 different participants wore inertial measurement units while performing a more complex set of activities. The precision metric obtained from leave-one-subject-out cross-validation for the second scenario reached 0.803. The impact of missing data on performance degradation was also evaluated. Conclusions To conclude, the proposed fusion technique provides the possibility of embedding joint variability information over different modalities in just a single 2D representation which results in obtaining a more global view of different aspects of daily human activities at hand, and yet preserving the desired performance level in activity recognition.
Development of Matrix Controlled Release Beads by Extrusion-Spheronization Technology Using a Statistical Screening Design

AbstractThe objective of this study was to develop beads with inherent modified release characteristics requiring no subsequent controlled release coating. Extrusion-spheronization was chosen to accomplish this goal. The model drug was a zwitterion (isoelectric point ∼pH 5.2) with poor solubility and low bulk density. Preliminary studies indicated that matrix beads with modified micro-environmental pH would result in sustained release of the drug. A Nica extruder and spheronizer were used to manufacture the beads. A Plackett-Burman screening design was employed to isolate critical variables influencing the bead characteristics and drug release. Variables studied included the type of polymeric dispersion, polymer concentration, acid type, acid concentration, plasticizer content, drug concentration and spheronizing time. Responses evaluated included capsule fill weight, drug release rate, micro-environmental pH, yield and friability. Beads were successfully manufactured according to the screening design and.
Deep brain stimulation in the medial septum attenuates temporal lobe epilepsy via entrainment of hippocampal theta rhythm

Temporal lobe epilepsy (TLE), often associated with cognitive impairment, is one of the most common types of medically refractory epilepsy. Deep brain stimulation (DBS) shows considerable promise for the treatment of TLE. However, the optimal stimulation targets and parameters of DBS to control seizures and related cognitive impairment are still not fully illustrated.
Translational Regulation of Clock Genes BMAL1 and REV-ERBα by Polyamines

Polyamines stimulate the synthesis of specific proteins at the level of translation, and the genes encoding these proteins are termed as the “polyamine modulon”. The circadian clock generates daily rhythms in mammalian physiology and behavior. We investigated the role of polyamines in the circadian rhythm using control and polyamine-reduced NIH3T3 cells. The intracellular polyamines exhibited a rhythm with a period of about 24 h. In the polyamine-reduced NIH3T3 cells, the circadian period of circadian clock genes was lengthened and the synthesis of BMAL1 and REV-ERBα was significantly reduced at the translation level. Thus, the mechanism of polyamine stimulation of these protein syntheses was analyzed using NIH3T3 cells transiently transfected with genes encoding enhanced green fluorescent protein (EGFP) fusion mRNA with normal or mutated 5′-untranslated region (5′-UTR) of Bmal1 or Rev-erbα mRNA. It was found that polyamines stimulated BMAL1 and REV-ERBα synthesis through the enhancement of ribosomal shunting during the ribosome shunting within the 5′-UTR of mRNAs. Accordingly, the genes encoding Bmal1 and Rev-erbα were identified as the members of “polyamine modulon”, and these two proteins are significantly involved in the circadian rhythm control.