Miracle-dz/UniFAR-FTUs huggingface dataset:
The difference in knowledge and concerns between healthcare professionals and patients about genetic-related issues: A questionnaire-based study

Effective adoption of genetics in clinical practice requires the support of and interaction between the different partners of healthcare system; healthcare professionals (HCPs) and patients. The study aimed to assess and compare the knowledge, factors affecting the knowledge, and concerns of HCPs and patients regarding genetic-related issues such as lack of knowledge about genetics and genetic conditions, awareness of the importance of genetics in clinical practice and genetic services and resources deficits. A cross sectional study was conducted in different areas of Jordan using a convenient sampling approach. An English questionnaire was self-administered to HCPs. Face-to-face interviews were conducted with patients in Arabic by trained researcher. A total of 1000 HCPs and 1448 patients were recruited. There was a significant difference (p<0.001) in the knowledge between HCPs and patients. Among HCPs, physicians (OR = 2.278, 95%CI = 1.410–3.680, p = 0.001) and pharmacists (OR = 2.163, 95%CI = 1.362–3.436, p = 0.001) were more knowledgeable than nurses. In addition, females were more knowledgeable than males (OR = 1.717, 95%CI = 1.203–2.451, p = 0.003). Among patients, participants who had a bachelor degree (OR = 1.579, 95%CI = 1.231–2.025, p<0.001) were more knowledgeable compared to those who only had school education. HCPs appeared to have more concerns than patients (p<0.001) regarding all genetic-related issues. These findings suggested a positive association between education and genetic knowledge as well as concerns; as HCPs were more knowledgeable and concerned than patients. Appropriate integration and expansion of basic genetic knowledge courses and clinical genetic training in the curriculum should be adopted to prepare HCPs to enhance the integration of genetic information in clinical settings.
Vitamin D-Induced Molecular Mechanisms to Potentiate Cancer Therapy and to Reverse Drug-Resistance in Cancer Cells

Increasing interest in studying the role of vitamin D in cancer has been provided by the scientific literature during the last years, although mixed results have been reported. Vitamin D deficiency has been largely associated with various types of solid and non-solid human cancers, and the almost ubiquitous expression of vitamin D receptor (VDR) has always led to suppose a crucial role of vitamin D in cancer. However, the association between vitamin D levels and the risk of solid cancers, such as colorectal, prostate and breast cancer, shows several conflicting results that raise questions about the use of vitamin D supplements in cancer patients. Moreover, studies on vitamin D supplementation do not always show improvements in tumor progression and mortality risk, particularly for prostate and breast cancer. Conversely, several molecular studies are in agreement about the role of vitamin D in inhibiting tumor cell proliferation, growth and invasiveness, cell cycle arrest and inflammatory signaling, through which vitamin D may also regulate cancer microenvironment through the activation of different molecular pathways. More recently, a role in the regulation of cancer stem cells proliferation and short non-coding microRNA (miRNAs) expression has emerged, conferring to vitamin D a more crucial role in cancer development and progression. Interestingly, it has been shown that vitamin D is able not only to potentiate the effects of traditional cancer therapy but can even contribute to overcome the molecular mechanisms of drug resistance—often triggering tumor-spreading. At this regard, vitamin D can act at various levels through the regulation of growth of cancer stem cells and the epithelial–mesenchymal transition (EMT), as well as through the modulation of miRNA gene expression. The current review reconsiders epidemiological and molecular literature concerning the role of vitamin D in cancer risk and tumor development and progression, as well as the action of vitamin D supplementation in potentiating the effects of drug therapy and overcoming the mechanisms of resistance often triggered during cancer therapies, by critically addressing strengths and weaknesses of available data from 2010 to 2020.
A simple and sensitive technique, based on protein loss measurements, to assess surface damage to human hair

This article describes a simple yet sensitive technique to assess surface damage to hair. It is based on the hypothesis that the damaged hair surface is more susceptible to abrasion/erosion than undamaged hair, and involves shaking hair in water and quantitatively measuring the amount of protein abraded/eroded from the hair using a colorimetric procedure capable of detecting as little as 5 Ixg of protein per mi. With this procedure, we were able to demonstrate significant differences in hair damaged due to bleaching, permanent wave treatments, and Suprox (a diperisophthalic acid based oxidant), and even after extended treatment with different surfactants. Furthermore, hair with exposed cortex was found to be more susceptible to protein loss by surfactants and/or water than hair with intact cuticle.
Residual Pulmonary Hypertension More than 20 Years after Repair of Shunt Lesions

Background and Objectives: After successful surgical repair of a congenital shunt lesion, pulmonary hypertension (PH) often disappears. However, PH can persist long-term after the closure. This study aimed to assess the prevalence of PH long-term after surgical repair of congenital heart disease (CHD), and to evaluate the outcomes and preoperative factors related to residual PH. Materials and Methods: In this retrospective cohort study, we reviewed patients who underwent right heart catheterisation in Vilnius University Hospital Santaros Klinikos during the period of 1985–2007. Among 4118 right heart catheterisations performed, 160 patients underwent congenital systemic-to-pulmonary shunt repair at a young age (<18 years) and had pre-operative PH. Half of the patients were foreigners whose follow-up data were unavailable. Eventually, 88 patients with available follow-up data were included in this study. Results: The median age at diagnosis of CHD with PH was 0.8 (0.6–3.0) and 1.1 (0.6–3.9) years at surgery (50% females). Residual PH was assessed 9.5 years after surgery and observed in 30.7% (n = 27) of the patients. It was associated with having more than one shunt (44.4% (n = 12), p = 0.016) and higher median pulmonary vascular resistance (3.4 (2.5–6.5) vs. 2.2 (1.0–3.7), p = 0.035) at baseline. After a median follow-up of 21 (15–24) years, 9.1% of the patients were deceased. Kaplan–Meier survival analysis revealed significantly higher mortality in the residual PH group (p = 0.035). Conclusions: Residual PH affects a significant proportion of patients after surgical repair of a shunt lesion and is associated with worse long-term outcome.
Exploring the effect of vitamin D3 supplementation on surrogate biomarkers of cholesterol absorption and endogenous synthesis in patients with type 2 diabetes-randomized controlled trial.

BACKGROUND Inverse associations have been reported between serum 25-hydroxyvitamin D [25(OH)D] and circulating cholesterol concentrations in observational studies. Postulated mechanisms include reduced bioavailability of intestinal cholesterol and alterations in endogenous cholesterol synthesis. OBJECTIVE To explore the effect of daily supplementation with 4000 IU/d vitamin D3 for 24 wk on surrogate biomarkers of cholesterol absorption (campesterol and β-sitosterol) and endogenous synthesis (lathosterol and desmosterol). METHODS Ancillary study of The Vitamin D for Established Type 2 Diabetes (DDM2) trial. Patients with established type 2 diabetes (N = 127, 25-75 y, BMI 23-42 kg/m2) were randomly assigned to receive either 4000 IU vitamin D3 or placebo daily for 24 wk. Of participants without changes in cholesterol-lowering medications (n = 114), plasma surrogate cholesterol absorption and endogenous synthesis biomarker concentrations were measured and merged with available measures of serum LDL cholesterol and HDL cholesterol concentrations. RESULTS At week 24, vitamin D3 supplementation significantly increased 25(OH)D concentrations (+21.5 ± 13.4 ng/mL) but not insulin secretion rates (primary outcome of the parent study) as reported previously. In this ancillary study there was no significant effect of vitamin D3 supplementation on serum cholesterol profile or surrogate biomarkers of cholesterol absorption and endogenous synthesis. Compared with participants not treated with cholesterol-lowering medications, those who were treated exhibited a greater reduction in plasma campesterol concentrations in the vitamin D3 but not placebo group (P-interaction = 0.011). Analyzing the data on the basis of cholesterol absorption status (hypo- versus hyperabsorbers) or cholesterol synthesis status (hypo- versus hypersynthesizers) did not alter these results. CONCLUSIONS Vitamin D3 supplementation for 24 wk had no significant effect on surrogate biomarkers of cholesterol absorption or endogenous synthesis, consistent with the lack of effect on serum cholesterol profile. Vitamin D3 supplementation resulted in greater reduction in campesterol concentrations in participants not using compared with those using cholesterol-lowering medications. Further studies are required.This trial was registered at clinicaltrials.gov as NCT01736865.
Noninvasive assessment of autonomic modulation of heart rate variability in the Ts65Dn mouse model of Down syndrome: A proof of principle study

The Ts65Dn mouse is the most widely used animal model of Down syndrome (DS). Differences in autonomic regulation of heart rate variability (HRV) in individuals with DS have been hypothesized. Pharmacological studies in animal models may help us understand mechanisms underlying observed changes in HRV in people with DS.
Effects of soil disturbance, seed rate, nitrogen fertilizer and subsequent cutting treatment on establishment of Bromus inermis seedlings on degraded steppe grassland in China

Establishment of seedlings of Bromus inermis, a native grass species of China, into a degraded steppe grassland was studied in an experiment with a factorial combination of different soil disturbance (control and harrowing), cutting post-sowing (control and cutting), nitrogen (N) fertilizer application (0 and 100 kg KNO3 hm )2 ) and seed rate (400, 800 and 1200 seeds m )2 ) treatments. Seedling emergence and survival rates, and plant performance, were followed over 2 years. Seedling emergence was increased by soil disturbance (harrowing). Cutting post-sowing and N fertilizer application did not increase seedling emergence. Seedling survival rates at the end of first growing season were strongly influenced by harrowing and the use of higher seed rates. Seedling height was higher in the harrowing and the N fertilizer application treatments and at the higher seed rates. Seedling survival rates in the second growing season were low but much higher with harrowing than the other treatments. Soil disturbance by harrowing may have increased contact between seed and soil, and reduced competition from established plants. It is concluded that, for the restoration of degraded semi-arid grassland in China by re-seeding, soil surface disturbance is necessary for successful seedling establishment, and modest seeding rates should be used to control costs.
Genotoxicity Biomarkers: Application in Histopathology Laboratories

Most cancers results from man-made and natural environmental exposures (such as tobacco smoke; chemical pollutants in air, water, food, drugs; radon; and infectious agents) acting in concert with both genetic and acquired characteristics. It has been estimated that without these environmental factors, cancer incidence would be dramatically reduced, by as much as 80%-90% (Perera, 1996). The modulation of environmental factors by host susceptibility was rarely evaluated. However, within the past few years, the interaction between environmental factors and host susceptibility factors has become a very active area of research (Perera, 2000). Molecular biology as a tool for use in epidemiological studies has significant potential in strengthening the identification of cancers associated with environmental exposures related to lifestyle, occupation, or ambient pollution. In molecular epidemiology, laboratory methods are employed to document the molecular basis and preclinical effects of environmental carcinogenesis (Portier & Bell, 1998).
Loeys–Dietz syndrome pathology and aspects of cardiovascular management: A systematic review

Loeys–Dietz syndrome is an autosomal dominant genetic disorder which is associated with significant and often crucial vascular manifestations. This review is aimed to examine current evidence on pathophysiology and management of Loeys–Dietz syndrome in current era. A comprehensive electronic search was done to identify the articles that discussed all the aspects of Loeys–Dietz syndrome, combined key words and Medical Subject Headings (MeSH) terms were used. Relevant articles have been summarized in each relevant section. Loeys–Dietz syndrome is an autosomal dominant genetic disorder which has combined and multi-systemic manifestations. The increased breakdown of extracellular matrix predisposes an individual to developing aneurysms in the aortic tree which is undoubtedly the most significant complication of this disorder. Understanding the pathophysiology and natural history of Loeys–Dietz syndrome and regular surveillance is important to plan prophylactic interventions to prevent life-threatening aortic emergencies which can be fatal. Loeys–Dietz syndrome is an aggressive genetic condition that predisposes an individual to the development of life-threatening aortic aneurysms. Our understanding of Loeys–Dietz syndrome remains ever-changing and it is likely that the knowledge regarding its diagnosis and treatment will become more clearly defined in the coming years with deeper genetic studies.
Roles of Silk Fibroin on Characteristics of Hyaluronic Acid/Silk Fibroin Hydrogels for Tissue Engineering of Nucleus Pulposus

Silk fibroin (SF) and hyaluronic acid (HA) were crosslinked by horseradish peroxidase (HRP)/H2O2, and 1,4-Butanediol di-glycidyl ether (BDDE), respectively, to produce HA/SF-IPN (interpenetration network) (HS-IPN) hydrogels. HS-IPN hydrogels consisted of a SF strain with a high content of tyrosine (e.g., strain A) increased viscoelastic modules compared with those with low contents (e.g., strain B and C). Increasing the quantities of SF in HS-IPN hydrogels (e.g., HS7-IPN hydrogels with weight ratio of HA/SF, 5:7) increased viscoelastic modules of the hydrogels. In addition, the mean pores size of scaffolds of the model hydrogels were around 38.96 ± 5.05 μm which was between those of scaffolds H and S hydrogels. Since the viscoelastic modulus of the HS7-IPN hydrogel were similar to those of human nucleus pulposus (NP), it was chosen as the model hydrogel for examining the differentiation of human bone marrow-derived mesenchymal stem cell (hBMSC) to NP. The differentiation of hBMSC induced by transforming growth factor β3 (TGF-β3) in the model hydrogels to NP cells for 7 d significantly enhanced the expressions of glycosaminoglycan (GAG) and collagen type II, and gene expressions of aggrecan and collagen type II while decreased collagen type I compared with those in cultural wells. In summary, the model hydrogels consisted of SF of strain A, and high concentrations of SF showed the highest viscoelastic modulus than those of others produced in this study, and the model hydrogels promoted the differentiation of hBMSC to NP cells.
Mitochondrial DNA Diversity, Genetic Structure, and Demographic History of the Neotropical Otter (Lontra longicaudis) in Mexico

Genetic diversity represents the evolutionary potential of a population, and allows insights into its demographic history and genetic structure; understanding these aspects of a population is crucial for conservation planning. The Neotropical otter (Lontra longicaudis) is distributed from Argentina to Northern Mexico and is currently listed as ‘data deficient' by the International Union for the Conservation of Nature (IUCN). To contribute to conservation planning for the species, we used non-invasive sampling to obtain mtDNA control region sequences from 44 individuals from across Mexico. We examined country-wide genetic diversity and demographic history, as well as genetic structure among 3 regions: North Pacific, South Pacific, and Atlantic. Haplotypes identified in Mexico were combined with Central and South American haplotypes in order to examine phylogeographic patterns and identify evolutionary significant units (ESUs). Results show lower genetic diversity in Mexico compared to recent estimates for South American populations. Analyses of demographic history in Mexico indicated an expansion coinciding with climatic changes at the end of the Pleistocene. Genetic structure was high among North Pacific/ South Pacific (FST = 0.48) and North Pacific/Atlantic (FST = 0.49), potentially due to mountain chains acting as barriers to female gene flow among these regions. On the other hand, we identified a potential corridor for gene flow among South Pacific and Atlantic. Phylogeographic analyses identified a distinct lineage distributed in North and Central America. We propose this represents a distinctive ESU which should be considered for separate conservation management.
Evaluation of Prognostic Factors of Severity in Acute Biliary Pancreatitis

Acute pancreatitis (AP) is an inflammatory disorder of the pancreas that, when classified as severe, is associated with high morbidity and mortality. Promptly identifying the severity of AP is of extreme importance for improving clinical outcomes. The aim of this study was to compare the prognostic value of serological biomarkers, ratios, and multifactorial scores in patients with acute biliary pancreatitis and to identify the best predictors. In this observational and prospective study, the biomarkers, ratios and multifactorial scores were evaluated on admission and at 48 h of the symptom onset. On admission, regarding the AP severity, the white blood count (WBC) and neutrophil–lymphocyte ratio (NLR), and regarding the mortality, the WBC and the modified Marshall score (MMS) showed the best predictive values. At 48 h, regarding the AP severity, the hepcidin, NLR, systemic inflammatory response index (SIRI) and MMS and regarding the mortality, the NLR, hepcidin and the bedside index for severity in AP (BISAP) score, showed the best predictive values. The present study enabled the identification, for the first time, of SIRI as a new prognostic tool for AP severity, and validated hepcidin and the NLR as better prognostic markers than C-reactive protein (CRP) at 48 h of symptom onset.
Metabotropic Glutamate Receptors Modulate the NMDA- and AMPA-Induced Gene Expression in Neocortical

Group I metabotropic glutamate receptors (mGluRIs) can be colocalizedwithionotropicglutamatereceptorsinpostsynapticmembranes. We have investigated whether mGluRIs alter the gene transcription induced by N-methyl-D-aspartate (NMDA) and (S)-a-amino-3hydroxy-5-methyl-4-isoxazolpropionic acid (AMPA) receptors in rat neocortical g-aminobutyric acid (GABA) interneurons. In cultures of dissociated interneurons, the mGluRI antagonists LY367385 and MPEP reduced the increase in phosphorylation of the transcription factor CREB induced by NMDA as well as the expression of the proenkephalin (PEnk) gene. In contrast, they enhanced the AMPAinduced CREB phosphorylation and PEnk gene expression. Stimulation of the mGluRIs was due to network activity that caused the release of endogenous glutamate and could be blocked by tetrodotoxin. In organotypic cultures of neocortex, endogenous glutamate enhanced the PEnk gene expression by acting on NMDA and AMPA receptors. These effects were modulated via mGluRIs. In patchclamp experiments and in biochemical studies on receptor density, stimulation of mGluRIs acutely affected NMDA receptor currents but had no long-term effect on NMDA receptor density at the cell surface. In contrast, stimulation of mGluRIs decreased the density of AMPA receptors located at the cell surface. Our results suggest that mGluRIs regulate the glutamate-induced gene expression in neocortical interneurons in a physiologically relevant manner.
New insights into the pathophysiological mechanisms underlying cardiorenal syndrome

Communication between the heart and kidney occurs through various bidirectional pathways. The heart maintains continuous blood flow through the kidney while the kidney regulates blood volume thereby allowing the heart to pump effectively. Cardiorenal syndrome (CRS) is a pathologic condition in which acute or chronic dysfunction of the heart or kidney induces acute or chronic dysfunction of the other organ. CRS type 3 (CRS-3) is defined as acute kidney injury (AKI)-mediated cardiac dysfunction. AKI is common among critically ill patients and correlates with increased mortality and morbidity. Acute cardiac dysfunction has been observed in over 50% of patients with severe AKI and results in poorer clinical outcomes than heart or renal dysfunction alone. In this review, we describe the pathophysiological mechanisms responsible for AKI-induced cardiac dysfunction. Additionally, we discuss current approaches in the management of patients with CRS-3 and the development of targeted therapeutics. Finally, we summarize current challenges in diagnosing mild cardiac dysfunction following AKI and in understanding CRS-3 etiology.
Postprandial changes in gastrointestinal function and transit in cystic fibrosis assessed by magnetic resonance imaging

Background and Aims Cystic fibrosis (CF) is a multi-system genetic disorder affecting >72,000 people worldwide. Most people with CF experience gastrointestinal symptoms and some will develop complications such as distal intestinal obstruction syndrome. However the mechanisms of symptoms and complications are not understood. We evaluated gut function and transit of CF using magnetic resonance imaging (MRI). Our hypotheses were: oro-caecal transit time (OCTT) is longer in CF, with lower small bowel water content (SBWC). Methods Twelve people with CF at a tertiary centre and 12 age and sex-matched controls underwent serial MRIs over 1 day, with meals at set time points. The primary endpoint was OCTT, assessed by the appearance of a food bolus in the caecum. Other measures included SBWC, colonic volume, gastric half-emptying time and gastrointestinal symptoms. Results OCTT was longer in CF (controls 210 minutes [173, 315] vs. CF 330 minutes [270, >360], p=0.04). There was no difference in gastric half-emptying times (controls 80 minutes [66, 88] vs. CF (97 [71, 128], p=0.3). Corrected SBWC was higher in CF (controls 34 L.min/m2 [28, 41] vs. CF 63 L.min/m2 [36, 80], p=0.021), with minimal second post-prandial decrease suggesting impaired ileal emptying. Corrected colonic volumes were higher in CF (controls (123 L.min/m2 [89, 146] vs. 186 L.min/m2 [166, 209], p=0.012). There were no differences in gastrointestinal symptoms. Conclusions Significant differences in gut function and transit exist between CF and controls. Our methodology provides a platform for studying gastrointestinal function in CF and has identified new potential mechanisms of dysfunction. ClinicalTrials.gov NCT03566550 Keywords Cystic fibrosis; MRI; gastrointestinal function; gastrointestinal symptoms.
The Effect of Ocimum basilicum, Thymus vulgaris, Origanum vulgare Essential Oils on Bacillus cereus in Rice-Based Foods

Food poisoning remains a major health problem, affecting both industrialized and developing countries. Here, we show that essential oils from Ocimum basilicum (basil), Thymus vulgaris (thyme), Origanum vulgare (oregano) exhibit bactericidal properties against Bacillus cereus in rice-based foods. The optimal bactericidal activities were observed at room temperature in a concentration-dependent manner.