Miracle-dz/UniFAR-FTUs huggingface dataset:
Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System

New streamlined models for genetic counseling and genetic testing have recently been developed in response to increasing demand for cancer genetic services. To improve access and decrease wait times, we implemented an oncology clinic-based genetic testing model for breast and ovarian cancer patients in a publicly funded population-based health care setting in British Columbia, Canada. This observational study evaluated the oncology clinic-based model as compared to a traditional one-on-one approach with a genetic counsellor using a multi-gene panel testing approach. The primary objectives were to evaluate wait times and patient reported outcome measures between the oncology clinic-based and traditional genetic counselling models. Secondary objectives were to describe oncologist and genetic counsellor acceptability and experience. Wait times from referral to return of genetic testing results were assessed for 400 patients with breast and/or ovarian cancer undergoing genetic testing for hereditary breast and ovarian cancer from June 2015 to August 2017. Patient wait times from referral to return of results were significantly shorter with the oncology clinic-based model as compared to the traditional model (403 vs. 191 days; p < 0.001). A subset of 148 patients (traditional n = 99; oncology clinic-based n = 49) completed study surveys to assess uncertainty, distress, and patient experience. Responses were similar between both models. Healthcare providers survey responses indicated they believed the oncology clinic-based model was acceptable and a positive experience. Oncology clinic-based genetic testing using a multi-gene panel approach and post-test counselling with a genetic counsellor significantly reduced wait times and is acceptable for patients and health care providers.
Use of Patient Portals of Electronic Health Records Remains Low From 2014 to 2018: Results From a National Survey and Policy Implications

Purpose: To investigate the trend of patient portal use in the general population and the barriers to adoption. Participants: We analyzed 3 iterations of the Health Information National Trends Survey (HINTS) collected in 2014, 2017, and 2018. Measures: Patient portal use, high-speed Internet access, data safety confidence, prior experience of online patient provider communication (OPPC), and demographic variables. Analysis: Logistic regression analyses were conducted separately for the 3 iterations of HINTS. Results: The use of patient portals increased from 25.6% in 2014 to 30.5% in 2017, and 31.4% in 2018. These users were more likely to be white female with higher levels of education or income. Meanwhile, high-speed Internet access, prior experience of OPPC, and data safety confidence were positive predictors of patient portal use in all 3 iterations. Conclusion: The use of patient portals in the general public remains low and a significant digital divide persists, presenting a major challenge on meaningful use of electronic health record. We call for more effective interventions to address these gaps. Such interventions should target people of low socioeconomic status and focus on improving eHealth literacy and patients’ confidence in data safety.
The timing of propofol administration affects the effectiveness of remote ischemic preconditioning induced cardioprotection in rats

The cardioprotection of remote ischemic preconditioning (RIPC) is abolished under propofol maintained anesthesia. Transient receptor potential vanilloid 1 (TRPV1) channel is present in the heart, and its activation could induce cardioprotection. Therefore, we tested whether the anesthetic propofol administration phase interfered with the RIPC‐induced cardioprotection, and RIPC‐induced cardioprotection via the cardiac TRPV1 channel. Male Sprague‐Dawley rats were subjected to myocardial 30 minutes of ischemia followed by 2 hours of reperfusion. RIPC consisted of three cycles of 5‐minute ischemia/reperfusion applied to a hindlimb. Propofol infusion at 12 mg/kg/h was commenced either at 10 minutes before the start of RIPC in the P‐pre + RIPC group, or immediately after myocardial ischemia at the onset of reperfusion (P‐post + RIPC) while performing RIPC. These two propofol infusion regimes were applied to another two grou bs without RIPC (P‐pre and P‐post groups). Infarct size (IS) was assessed by triphenyltetrazolium staining. Heart TRPV1 expression was detected by Western blot and immunofluorescence. RIPC significantly reduced myocardial IS compared with the control group (36.7 ± 3% versus 57.2 ± 4%; P < .01). When propofol was started before RIPC, the IS sparing effect of RIPC was completely abolished. However, propofol infusion starting immediately after myocardial ischemia did not affect RIPC‐induced cardioprotection. TRPV1 expression significant increase after RIPC, then propofol inhibited the TRPV1 activation of RIPC if given before RIPC but not after. Our results suggest that the timing of propofol administration is critical to preserve the cardioprotection of RIPC. Propofol might cancel RIPC‐induced cardioprotection via the cardiac TRPV1 receptor.
How Electrical Heterogeneity Parameters of Ion-Exchange Membrane Surface Affect the Mass Transfer and Water Splitting Rate in Electrodialysis

Electrodialysis (ED) has been demonstrated as an effective membrane method for desalination, concentration, and separation. Electroconvection (EC) is a phenomenon which can essentially increase the mass transfer rate and reduce the undesirable water splitting effect. Efforts by a number of researchers are ongoing to create conditions for developing EC, in particular, through the formation of electrical heterogeneity on the membrane surface. We attempt, for the first time, to optimize the parameters of surface electrical heterogeneity for ion-exchange membranes used in a laboratory ED cell. Thirteen different patterns on the surface of two Neosepta anion-exchange membranes, AMX and AMX-Sb, were tested. Low-conductive fluoropolymer spots were formed on the membrane surface using the electrospinning technique. Spots in the form of squares, rectangles, and circles with different sizes and distances between them were applied. We found that the spots’ shape did not have a visible effect. The best effect, i.e., the maximum mass transfer rate and the minimum water splitting rate, was found when the spots’ size was close to that of the diffusion layer thickness, δ (about 250 μm in the experimental conditions), and the distance between the spots was slightly larger than δ, such that the fraction of the screened surface was about 20%.
In silico analysis of the promoter region of olfactory receptors in cattle (Bos indicus) to understand its gene regulation

Abstract Identifications of transcription start sites (TSSs) and promoter regions are first step to understand the regulation mechanisms of gene expression and association with genetic variations in the regions. This analysis was conducted with the objectives to identify TSSs, determine the promoter regions, identify common candidate motifs and transcription factors (TFs), and search for CpG islands (CGIs) in cattle olfactory receptors (ORs) genes promoter regions. In the analysis, TSSs of cattle olfactory genes were first identified. The locations for 60% of the TSSs were below –500 bp relative to the start codon and five candidate motifs (MOR1, MOR2, MOR3, MOR4, and MOR5) were identified that are shared by at least 50% of the cattle ORs promoter input sequences from both strands. Among the five candidate motifs, MOR4 was revealed as the common promoter motif for 85.71% of cattle ORs genes that serves as binding sites for TFs involved in the expression regulation of these genes. MOR4 was also compared to registered motifs in publically available databases to see if they are similar to known regulatory motifs for TF by using the TOMTOM web application. Hence, it was revealed that MOR4 may serve as the binding site mainly for the Zinc finger (ZNF) TF gene family to regulate expression of cattle ORs genes. Further gene ontology analysis for MOR4 demonstrated ORs belong to the G-protein-coupled receptor superfamily and MOR4 tend to be located near the genes involved in the detection of chemical stimulus involved in sensory perception and in innate immune responses such as cytokine-mediated signaling. In silico digestion of cattle OR sequences was performed using restriction enzyme MspI. CGIs from OR10K1 and OR2L13 gene was found. In the present analysis, the poor CGIs observed might suggest their gene expression regulation pattern is in tissue specific manner.
Cochlear implantation in Ménière’s disease: a systematic review of literature and pooled analysis

Abstract Objective: The aim of this study was to evaluate the effect of cochlear implantation (CI) in advanced Ménière’s disease (MD). Design: The initial search on PubMed, EMBASE, and Cochrane databases yielded 171 articles; no language restriction was applied. Study sample: A total of 11 articles met the inclusion criteria and were included in this systematic review. Six articles provided patient-level data on improvement in speech recognition testing after CI. Results: The methodological quality of included studies was assessed by examining the study design, level of evidence, method of measurement and adequacy of outcome reporting. A random-effect model was fitted for calculating weighted means. Post-operative improvement in word recognition score (WCS) was 50.8% (95% confidence interval: 34.6–67.1%); general improvement of vestibular symptoms after CI was found in 67% of the pooled patients; when reported in the studies, quality of life (QoL) and tinnitus were also generally improved after CI. Conclusions: CI in advanced MD is a valid option providing good outcomes in terms of speech performances, regardless of the disease duration, uni- or bilaterality, age at implantation, previous therapeutic procedures and stage of activity of MD.
The 16-year experience in treating low-risk gestational trophoblastic neoplasia patients with failed primary methotrexate chemotherapy

Objective To assess the outcomes and toxic effects of 5-day actinomycin D (Act-D) salvage therapy and to explore the predictors of Act-D resistance in patients with low-risk gestational trophoblastic neoplasia (GTN)who failed 5-day methotrexate (MTX) chemotherapy. Methods This retrospective study analyzed patients with low-risk GTN administered Act-D salvage therapy after failing MTX chemotherapy at Women's Hospital, School of Medicine Zhejiang University between January 2000 and December 2015. The clinical parameters of these patients were collected and analyzed. Results The final analysis included 89 cases. Of these, 73 cases (82.02%) responded to salvage Act-D. The remaining 16 resistant cases were switched to etoposide, MTX, Act-D/cyclophosphamide, and vincristine chemotherapy and achieved complete remission. Serum human chorionic gonadotrophin levels before Act-D salvage therapy (hCGAct-D)in the Act-D-resistant cases were significantly higher than those in the Act-D responders (median 605 vs. 103 IU/L, p=0.009). However, the range of hCGAct-D values in Act-D responders was wider than that in Act-D-resistant cases (5.76–16,664 IU/L vs. 11.43–6,732 IU/L). Thus, assigning a general cut-off value was difficult considering the individual setting. Except for 2 cases requiring other salvage regimens due to Act-D toxicity, 97.80% of cases (89/91) tolerated the toxicity. During at least 1-year follow-up, the survival rate was 100.00% and no case developed recurrence. Conclusion Based on the good therapeutic effect and tolerable toxicity, we recommend Act-D salvage therapy for all patients with low-risk GTN who fail primary MTX chemotherapy. The higher serum hCG levels before Act-D salvage therapy may be associated with resistance to this treatment.
Associations between migraine occurrence and the effect of aura, age at onset, family history, and sex: A cross-sectional study

Introduction The relationships between family history, sex, age at onset, and migraine occurrence have been documented. However, the associations between these factors across different sexes and subgroups of patients have yet to be elucidated. This study evaluated the association between family history and migraine in male and female patients experiencing episodic and chronic migraine with and without aura. Methods This cross-sectional, case–control study included 299 headache-free controls and 885 patients receiving outpatient treatment for migraine. Participants were classified into episodic (1–14 days/month) and chronic (≥15 days/month) migraine groups. Results Positive family history was significantly more frequently observed in the episodic group than in the chronic group (49.5% vs. 26%; P < 0.001) in male patients, particularly in male patients without aura (50.3% vs. 21.9%; P = 0.003); it was less frequently observed (58.7% vs. 73.7%; P = 0.048) in female patients with aura. Family history was correlated with an earlier age at onset (20.7 years vs. 22.8 years; P = 0.002), particularly in patients without aura (21 years vs. 23.7 years; P = 0.002), who were women (20.9 years vs. 23.9 years; P = 0.002). Conclusions Different patterns of association between family history and migraine can be observed between men and women. A positive family history of migraine is correlated with an earlier age at onset, particularly among female patients without aura.
[Correlation between intestinal mucosal permeability and prognosis in patients with liver cirrhosis].

Objective: To investigate the correlation between changes in intestinal mucosal permeability and prognosis of patients with liver cirrhosis. Methods: Data of 89 cases with liver cirrhosis who were hospitalized in the Hepatology Department of Shanxi Provincial Hospital of Traditional Chinese Medicine from January 2017 to August 2017 were collected as the liver cirrhosis experimental group, and 40 healthy subjects were randomly selected as the healthy control group. JY-DLT, the Intestinal Mucosal Barrier Biochemical Index Analysis System was used to measure the levels of serum diamine oxidase (DAO), D-lactic acid, and endotoxin (ETX) in two groups to evaluate intestinal mucosal barrier function. Spearman's rank correlation test was used to evaluate the correlation between liver cirrhosis prognosis and intestinal mucosal permeability. The results of the two groups were compared by Mann-Whitney H test of two independent samples. One-way Anova was used for intergroup comparison. The pairwise comparison between groups was performed using the LSD or SNK test. Results: The level of ETX in patients with decompensated cirrhosis was significantly higher than that in the compensated phase, and the difference was statistically significant (P < 0.05). The levels of DAO, D-lactic acid and ETX in the liver cirrhosis group were significantly higher than those in the healthy control group, and the differences were statistically significant (P < 0.01). The plasma levels of DAO, D-lactic acid and ETX in the Child-Pugh grade groups of patients with liver cirrhosis were significantly higher than those in the healthy control group, and the differences were statistically significant (P < 0.05). The results of intergroup comparison showed that there were statistically significant differences in DAO, D-lactic acid and ETX levels between Child-Pugh grade A and grade B groups (t = -4.255, 2.527, -2.179, P < 0.05). Furthermore, there were statistically significant differences in the levels of D-lactic acid and ETX between the Child-Pugh grade A and grade C groups (t = -2.693, -4.248, P < 0.01). The plasma levels of DAO, D-lactic acid and ETX levels were positively correlated (r = 0.205, 0.372, 0.342, P < 0.01). D-lactic acid and ETX levels were positively correlated with CTP score, Forns' index, RPR index, APRI score, FIB-4 index and FibroScan score(P < 0.01). Conclusion: The three indices (plasma DAO, D-lactic acid, and ETX) can accurately detect the changes in intestinal mucosal permeability. Moreover, the higher index of intestinal mucosal permeability causes the more severe degree of liver cirrhosis and the correlation between the intestinal mucosal permeability and the prognosis score of liver cirrhosis provides a reference for a new evaluation system and new ideas for the treatment of liver cirrhosis.
Multilocus genotyping of Giardia duodenalis in Southwestern Iran. A community survey

Giardia duodenalis is one of the main enteric pathogens associated with diarrheal disease. In developing countries, giardiasis is a major public health concern, particularly in children under five years of age. This study aimed to evaluate the occurrence and genetic diversity of G. duodenalis causing human infections in Shushtar County, Southwestern Iran. Individual faecal specimens were collected from 1,163 individuals (male/female ratio: 0.9; age range 2–75 years) with (n = 258) and without (n = 905) gastrointestinal symptoms living in rural and urban settings during the period 2017–2018. Conventional (sucrose flotation and microscopy) methods were used for the initial detection of G. duodenalis cysts in faecal specimens. Microscopy-positive samples were confirmed by PCR amplification and sequencing of the small subunit rRNA (ssu rRNA) gene of the parasite. A multilocus genotyping (MLG) scheme targeting the triose phosphate isomerase (tpi), the glutamate dehydrogenase (gdh), and the beta-giardin (bg) genes was used for genotyping purposes. Giardia duodenalis cysts were detected in 7.7% (90/1,163) of samples by microscopy, of which 82 were confirmed by ssu-PCR. Successful amplification and sequencing results were obtained for 23.2% (19/82), 9.8% (8/82), and 8.5% (7/82) of the confirmed samples at the tpi, gdh, and bg loci, respectively. MLG data for the three loci were available for two samples only. Out of the 24 samples genotyped at any loci, 50% (12/24) were identified as assemblage A and the remaining half as assemblage B. Overall, AII was the most prevalent sub-assemblage detected (41.7%, 10/24), followed by BIII (25.0%, 6/24), discordant BIII/BIV (5/24) or AII/AIII (2/24) sequences, and BIV (1/24). No significant correlation was demonstrated between a given assemblage/sub-assemblage and the occurrence of clinical symptoms. No genotypes adapted to animal hosts other than humans (e.g. assemblages C-F) were found circulating in the investigated human population, suggesting that transmission of human giardiasis in this Iranian region is primarily of anthroponotic nature. Further molecular-based studies are needed to confirm and expand these results, and to ascertain the presence and public health relevance of the parasite in environmental (e.g. drinking water) samples.
Hyperactive LH pulses and elevated kisspeptin and NKB gene expression in the arcuate nucleus of a PCOS mouse model.

Polycystic ovary syndrome (PCOS), a common reproductive disorder in women, is characterized by hyperandrogenemia, chronic anovulation, cystic ovarian follicles, and LH hyper-pulsatility, but the pathophysiology is incompletely understood. We recently reported a novel mouse model of PCOS using chronic letrozole (LET; aromatase inhibitor). LET females demonstrate multiple PCOS-like phenotypes, including polycystic ovaries, anovulation, and elevated circulating testosterone and LH, assayed in "one-off" measures. However, due to technical limitations, in vivo LH pulsatile secretion, which is elevated in PCOS women, was not previously studied, nor were possible changes in reproductive neurons. Here, we used recent technical advances to examine in vivo LH pulse dynamics of freely-moving LET female mice versus control and ovariectomized (OVX) mice. We also determined whether neural gene expression of important reproductive regulators such as kisspeptin, neurokinin B (NKB), and dynorphin, is altered in LET females. Compared to controls, LET females exhibited very rapid, elevated in vivo LH pulsatility, with increased pulse frequency, amplitude, and basal levels, similar to PCOS women. LET mice also had markedly elevated Kiss1, Tac2, and Pdyn expression and increased Kiss1 neuronal activation in the hypothalamic arcuate nucleus. Notably, the hyperactive LH pulses and increased kisspeptin neuron measures of LET mice were not as elevated as OVX females. Our findings indicate that LET mice, like PCOS women, have markedly elevated LH pulsatility which likely drives increased androgen secretion. Increased hypothalamic kisspeptin and NKB levels may be fundamental contributors to the hyperactive LH pulse secretion in the LET PCOS-like condition, and perhaps, in PCOS women.
Using Group Model Building to Describe the System Driving Unhealthy Eating and Identify Intervention Points: A Participatory, Stakeholder Engagement Approach in the Caribbean

Many Small Island Developing States of the Caribbean experience a triple burden of malnutrition with high rates of obesity, undernutrition in children, and iron deficiency anemia in women of reproductive age, driven by an inadequate, unhealthy diet. This study aimed to map the complex dynamic systems driving unhealthy eating and to identify potential points for intervention in three dissimilar countries. Stakeholders from across the food system in Jamaica (n = 16), St. Kitts and Nevis (n = 19), and St. Vincent and the Grenadines (n = 6) engaged with researchers in two group model building (GMB) workshops in 2018. Participants described and mapped the system driving unhealthy eating, identified points of intervention, and created a prioritized list of intervention strategies. Stakeholders were also interviewed before and after the workshops to provide their perspectives on the utility of this approach. Stakeholders described similar underlying systems driving unhealthy eating across the three countries, with a series of dominant feedback loops identified at multiple levels. Participants emphasized the importance of the relative availability and price of unhealthy foods, shifting cultural norms on eating, and aggressive advertising from the food industry as dominant drivers. They saw opportunities for governments to better regulate advertising, disincentivize unhealthy food options, and bolster the local agricultural sector to promote food sovereignty. They also identified the need for better coordinated policy making across multiple sectors at national and regional levels to deliver more integrated approaches to improving nutrition. GMB proved to be an effective tool for engaging a highly diverse group of stakeholders in better collective understanding of a complex problem and potential interventions.