Miracle-dz/UniFAR-FTUs huggingface dataset:
Gene mutations that promote adrenal aldosterone production, sodium retention, and hypertension

: Primary aldosteronism (PA) is the most common form of secondary hypertension, found in about 5% of all hypertension cases, and up to 20% of resistant hypertension cases. The most common forms of PA are an aldosterone-producing adenoma and idiopathic (bilateral) hyperaldosteronism. Rare genetic forms of PA exist and, until recently, the only condition with a known genetic mechanism was familial hyperaldosteronism type 1, also known as glucocorticoid-remediable aldosteronism (FHA1/GRA). FHA type 3 has now been shown to derive from germline mutations in the KCNJ5 gene, which encodes a potassium channel found on the adrenal cells. Remarkably, somatic mutations in KCNJ5 are found in about one-third of aldosterone-producing adenomas, and these mutations are likely to be involved in their pathogenesis. Finally, mutations in the genes encoding an L-type calcium channel ( CACNA1D ) and in genes encoding a sodium–potassium adenosine triphosphatase ( ATP1A1 ) or a calcium adenosine triphosphatase ( ATP2B3 ) are found in other aldosterone-producing adenomas. These findings provide a working model, in which adenoma formation and/or aldosterone production in many cases derives from increased calcium entry, which drives the pathogenesis of primary aldosteronism.
Economy and Interaction: Exploring archaeobotanical contributions in Prehistoric Cyprus

Recent archaeobotanical results from early Aceramic Neolithic sites on Cyprus (c. 8,500 cal. BC) have put the island in the forefront of debates on the spread of Near Eastern agriculture, with domestic crops appearing on the island shortly after they evolved. The archaeobotanical results from these early Cypriot Aceramic Neolithic sites changed conventional views regarding the Cypriot prehistoric economy, specifically the timing of the introduction of farming to the island. However, what happened after the introduction of agriculture to Cyprus has been less discussed. This thesis explores the role of new crop introductions, local agricultural developments, and intensification in subsequent economic and social developments on Cyprus corresponding with the island’s evidence of ongoing social transformations and changing off-island patterns of contacts. In addition to contributing to discussions on the origins and spread of Near Eastern agriculture, this thesis contributes to current archaeological debates on external contact and the influence of the broader Near East on the development of the island’s prehistoric economy. Further, the primary objective of this research is the comparative quantitative analysis of the Cypriot charred macro botanical record including archaeobotanical data from four recently excavated Cypriot sites, Krittou Marottou-‘Ais Yiorkis, Kissonerga-Skalia, Souskiou-Laona, and Prastion-Mesorotsos. This research is a chronological and regional analysis of the botanical record of Cyprus and a comparison of data from similarly dated sites in the Levantine mainland, Turkey, and Egypt.
Applying Next-Generation Sequencing to Unravel the Mutational Landscape in Viral Quasispecies: a Mini-Review

Next-generation sequencing (NGS) has revolutionized the scale and depth of biomedical sciences. Because of its unique ability for the detection of sub-clonal variants within genetically diverse populations, NGS has been successfully applied to analyze and quantify the exceptionally-high diversity within viral quasispecies, and many low-frequency drugor vaccine-resistant mutations of therapeutic Jo ur na l P re -p ro of
ADVANCED JOURNAL OF EMERGENCY MEDICINE. 2020;4(*):e*

Introduction: Globally, stroke is one of the leading causes of death and disability-adjusted life-years (DALYs). The red cell distribution width (RDW) is a readily available and inexpensive test which is done routinely as a part of complete blood count in these patients. Objective: In this study, we tried to correlate the RDW with severity of acute ischemic stroke (AIS). Methods: Patients presenting to emergency department (ED) within 24 hours of the onset of clinical signs and symptoms suggestive of AIS were assessed for Glasgow Coma Scale (GCS) and National Institutes of Health Stroke Scale (NIHSS) score followed by non-contrast computed tomography (NCCT) scan. RDW value for all the patients who were included in the study were co-related with the severity of the stroke. Results: The median (IQR) RDW in the patients with minor stroke on the basis of GCS was 13.5 (13.3-13.5), moderate stroke was 13.8 (13.5-14.4) and with severe stroke was 15.4 (15.115.6) (p < 0.001). The median (IQR) RDW in the patients with minor stroke on the basis of NIHSS score was 13.4 (13.2 – 13.6), moderate stroke was 13.8 (13.5-14.3), and moderate to severe stroke was 14.7 (14.5-15.3) and with severe stroke was 15.5 (15.1-15.7) (p < 0.001). The median RDW in patients who were alive was 13.8 (13.5 -15.1) and in patients who expired was 15.5 (14.5 -15.7) (p = 0.048). Conclusion: Based on the findings of this study, RDW index has statistically significant correlation with the severity of AIS. So it can potentially be an important parameter to predict the prognosis of AIS patients.
Mobile Thrombus on Device Leads in Patients Undergoing Ablation: Identification, Incidence, Location, and Association With Increased Pulmonary Artery Systolic Pressure

The failing human heart develops metabolic derangements characterized by a shift from fatty acids to glucose use for ATP generation. These metabolic changes are accompanied by transcriptional changes typically seen during embryogenesis. The aim of our study was to investigate myocardial levels of toxic lipid intermediates in samples from patients with advanced heart failure compared with control subjects. Furthermore, we analyzed whether mechanical unloading of the failing myocardium corrects impaired cardiac metabolism. For this purpose, we analyzed myocardium and serum of patients with advanced heart failure obtained during left ventricular assist device implantation and at explantation and from control subjects. Systemic insulin resistance in heart failure was accompanied by decreased myocardial triglyceride and overall fatty acid content but increased toxic lipid intermediates, diacylglycerol, and ceramide. Several downstream signaling molecules known to regulate insulin signaling (Akt, Foxo, and protein kinase C) were also found to be dysregulated in the failing myocardium, favoring an insulin-resistant state compared with control subjects. Left ventricular assist device implantation improved insulin resistance and decreased myocardial levels of the toxic lipid intermediates diacylglycerol and ceramide, whereas triglyceride and free fatty acid content remained unchanged. Therefore, abnormal myocardial metabolism, insulin resistance, and lipotoxicity develop in human heart failure. Mechanical unloading through left ventricular assist device implantation corrects systemic and local metabolic derangements in advanced heart failure. This study characterizes metabolic changes in human heart failure with the development of cardiac lipotoxicity. Furthermore, these findings suggest potential therapeutic implications of mechanical unloading of the failing myocardium for the correction of metabolic derangements in advanced human heart failure.
Fruits and Vegetables Intake and Risk of Bladder Cancer

AbstractClinical practice recommends eating ≥2.5 cups of fruits and vegetables (FVs) each day for cancer prevention, in which the evidence from epidemiological studies for the association between FVs intake and bladder cancer (BC) prevention is inconsistent.We searched the PubMed, Embase, and Willy online Library for relevant studies published up to September 27, 2014. Prospective cohort studies investigated FVs intake, and the risk of BC with ≥3 categories of exposure was included. A dose-response meta-analysis was carried out to evaluate the association between FVs intake and risk of BC.Fourteen cohorts with 17 studies including 9447 cases were identified. No evidence of nonlinear association was examined between FVs intake and risk of BC. The summarized relevant risk (RR) of every 0.2 serving increment a day was 1.00 (95%CI: 0.99, 1.00; P = 0.17; I2 = 41.7%; n = 14) for total fruits; 0.99 (95%CI: 0.96, 1.01; P = 0.28; I2 = 37.0%; n = 13) for total vegetables; and 0.99 (95%CI: 0.97, 1.01; P = 0.24; I2 = 57.5%; n = 8) for both FVs. In further analysis, we observed inverse association between every 0.2 serving increment of green leafy vegetables intake a day and risk of BC (RR = 0.98, 95%CI: 0.96, 0.99; I2 = 0.0%; P < 0.01; Power = 0.76; n = 6), but neither for cruciferous vegetables (RR = 0.97, 95%CI: 0.93, 1.01; P = 0.19; I2 = 55.8%; n = 8) nor for citrus (RR = 1.00, 95%CI: 1.00, 1.00; P = 0.83; I2 = 0.0%; n = 7). Subgroup analysis showed consistent results.Little evidence supports a beneficial effect for total fruits, vegetables, both FVs, and citrus intake against bladder cancer. Green leafy vegetables may help prevent bladder cancer.
Respiratory infections associated with anti-TNF agents Complications pulmonaires infectieuses des anti-TNF

Complications pulmonaires infectieuses des anti-TNF E. Blanchard a,∗, M. -E. Truchetet b, I. Machelart c, J. Séneschal d, C. Raherison-Semjen a a Service des maladies respiratoires, hôpital Haut-Lévêque, CHU de Bordeaux, 1, avenue Magellan, 33604 Pessac cedex, France b Service de rhumatologie, hôpital Pellegrin, CHU de Bordeaux, place Amélie-Raba-Léon, 33000 Bordeaux, France c Service de médecine interne, hôpital Haut-Lévêque, CHU de Bordeaux, 1, avenue Magellan, 33604 Pessac cedex, France d Service de dermatologie, hôpital Saint-André, CHU de Bordeaux, 1, rue Jean-Burguet, 33000 Bordeaux, France
Evaluation of Nutritional composition of Roselle (Hibiscus sabdariffa) herbal Tea infused with Ginger (Zingiber officinale) and Lemon (Citrus limon) Peel

Roselle calyces (Hibiscus sabdariffa), lemon (Citrus limon), and ginger (Zingiber officinale) are nutrient-dense crops that could be combined for herbal tea. Five herbal tea samples were prepared, namely, roselle without spice (RWS), roselle with ginger (RG1 and RG2), or with lemon peel (RL1 and RL2) at 25% and 50% inclusion. Microbial load, physicochemical, nutritional, antioxidant contents, and sensory analyses of the samples were performed using standard methods. Microbial load ranged from 2.7 to 3.5 × 106 colony-forming unit (CFU)/g; 2.9 × 105 to 1.1 × 106 CFU/g, and 5.1 to 7.2 × 105 CFU/g for total viable, Salmonella-Shigella, and fungal count, respectively. Values for pH ranged from 2.7 to 3.5; protein content ranged from 7.3% to 8.5%; and fiber ranged from 8.7% to 10.3%. Mineral content ranged from 3.05 to 3.75 mg/100 g, 869 to 911 mg/100 g, 20.3 to 22.5 mg/100 g, and 274 to 286.7 mg/100 g for iron, calcium, potassium, and magnesium, respectively. Ascorbic acid content of roselle tea samples ranged from 121.1 ± 2.4 mg/100 g to 138.01 ± 0.8 mg/100 g. Lycopene content ranged from 1.9 to 2.2 mg/100 g, while polyphenol content ranged from 31.2 to 41.3 mg/gallic acid equivalents/g and alkaloid content reduced with the addition of spice (1.8 to 2.8%). Panelists scored ROS higher than other infused teas in aroma (3.8) and general acceptability while roselle with 25% ginger (RG1) scored higher in color (4.3) and taste (3.9). In conclusion, the inclusion of ginger and lemon peels as spices could be an effective means of improving the nutrients and health benefits of roselle herbal tea.
What Means A Quality Professional–Patient Relationship From The Asthmatic Patients’ Perspective? A Narrative Review Of Their Needs And Expectations

Introduction Poor treatment adherence among asthmatic patients currently remains a public health challenge. One of the most quoted determinants is the quality of the professional–patient relationship although it has clearly not been fully described. Purpose This study aims at deeply exploring asthmatic patients’ needs and expectations about the accompaniment proposed by their healthcare professionals. Methods A rigorous narrative review was performed. Results According to patients, what they expect from professionals can be split into eight themes: getting exhaustive information, relying on an available healthcare professional, being more involved into life with one’s asthma, being accompanied by a multidisciplinary team, being respected in one’s uniqueness, being cared through a humanist approach, feeling the professional is skilled and Other needs. Discussion and conclusion Asthmatic patients’ needs have little evolved in 20 years illustrating that if they are met, that would positively affect the way patients want to be followed by healthcare professionals and so, that would increase their treatment adherence. Several recommendations such as setting up a doctor – asthma nurse practitioner binomial or studying a concrete care pathway may help in fulfilling these needs. Finally, this research opens the way to other studies since similar results have been found in populations suffering from other chronic diseases than asthma.
MicroRNAs that contribute to coordinating the immune response in Drosophila 1 melanogaster 2

1 melanogaster 2 Magda L. Atilano, Marcus Glittenberg, Annabel Monteiro, Richard Copley^, Petros 3 Ligoxygakis 4 5 Laboratory of Cell Biology, Development and Genetics, Department of Biochemistry, 6 University of Oxford, South Parks Road, Oxford OX1 3QU, UK 7 ^Sorbonne Universités, UPMC Univ Paris 06, CNRS, Laboratoire de Biologie du 8 Développement de Villefranche-sur-mer (LBDV), 181 chemin du Lazaret, 06230 9 Villefranche-sur-mer, France 10
Physiological and Molecular Responses to Concurrent Training in Endurance-Trained Athletes

Concurrent training describes the combination of both endurance and strength stimuli within a coherent paradigm. An attenuation in strength, power, and hypertrophy can result from this model of training, in comparison to that resulting from strength only; a phenomenon termed an ‘interference effect’. Rather than adopt a myopic view of the concurrent training paradigm, whereby the addition of an endurance stimulus is fatal to strength-based training outcomes, it is of interest to better understand the response to a concurrent exercise stimulus and elucidate the response to manipulating training variables. Given this, the objectives of this thesis were to investigate and draw conclusions on the short-term response to a strenuous concurrent stimulus (Chapter 4), in addition to the effect of manipulating the programme variables of exercise sequence (Chapter 5) and endurance exercise intensity (Chapters 6 and 7) on strength and endurance-related outcomes. The findings of this thesis indicate concurrent training stimuli to provide a relatively modest level of muscle damage, potentially owing to the order of the two exercise modes, with this programme variable of intra-session exercise sequence affecting improvements in lower-body dynamic strength during a concurrent training programme. Further, the data do not support the premise of a molecular interference effect amongst an endurance-trained phenotype, nor a role for the variable of endurance exercise intensity to modify the molecular response to concurrent stimuli, regardless of training status, or performance outcomes following a short-term concurrent training programme. With regards to practical applications, while an endurance-resistance exercise order might limit muscle damage, the alternate sequence is beneficial for lower-body strength development. Individuals limited by time, such that they must train concurrently with minimal relief between modes of exercise, should adopt a resistance-endurance exercise order to promote strength adaptation across a training programme. Finally, providing it is work- and duration-matched, endurance exercise intensity can be manipulated without detriment to strength performance, amongst endurance trained athletes.
Increased γ-Site H-Bond Stability Relates to Altered ε-Efficiency and Aβ

3 Alexander Götz1§, Philipp Högel2§, Mara Silber3, Iro Chaitoglou2, Burkhard Luy3, Claudia 4 Muhle-Goll3, Christina Scharnagl1* and Dieter Langosch2* 5 6 1Lehrstuhl für Physik synthetischer Biosysteme (E14), Technische Universität München, 7 Maximus-von-Imhof Forum 4, 85354 Freising, Germany 8 2Center for Integrated Protein Science Munich (CIPSM) at the Lehrstuhl für Chemie der 9 Biopolymere, Technische Universität München, Weihenstephaner Berg 3, 85354 Freising, 10 Germany 11 3Institute of Organic Chemistry and Institute for Biological Interfaces 4, Karlsruhe Institute of 12 Technology, Karlsruhe, Germany. 13 §These authors contributed equally. 14
Nitrogen and Phosphorus Biogeochemistry of Watersheds Along the Western Slope of the Sierra Nevada

Author(s): Homyak, Peter Michael | Advisor(s): Sickman, James O | Abstract: Human activities have more than tripled the amount of N and P available to ecosystems, resulting in complex effects on the environment. The objectives of this study are to evaluate the N saturation status of chaparral ecosystems exposed to elevated atmospheric N deposition and identify mechanisms for the destabilization of P in soils and lacustrine sediments that may be contributing to the eutrophication of high-elevation Sierra Nevada lakes. The N saturation status of a chaparral catchment was assessed through an N budget including atmospheric N inputs, hydrologic and gaseous N outputs, belowground N dynamics, and isotopic separation of streamwater nitrate sources. Phosphorus pools in soil and lake sediment were identified and monitored seasonally to understand how changes in physicochemical conditions and hydrology affect the transport of P to Sierran lakes. In chaparral, seasonal transitions, microbial C limitation, and the asynchrony between N availability and plant N demand modulated the kinetic N saturation of the catchment. The transition from dry to wet soil conditions induced rapid nitrification of ammonium leading to large hydrologic and gaseous N losses. However, during the growing season, N losses were minimal highlighting the limitations of applying standard N-saturation theory to xeric landscapes. In high elevation catchments, P is tightly bound by Al and atmospheric P inputs and rock weathering during the Holocene are the primary sources of present day soil and sediment P. Lake sediments represent a strong sink for P in high elevation lakes even during periods of anoxia. During snowmelt, 27% of the soil P cycles between the inorganic and organic pools raising the possibility that changes in snowpack dynamics could potentially explain long-term trends in P supply to lakes. Although intrinsic differences exist between chaparral and subalpine catchments, they respond similarly to the Mediterranean climate of California. The loss of tight biological control of N and P during seasonal transitions in the Sierra Nevada is similar to the response of ecosystems to periodic disturbances like fire and logging. Thus, nutrient limitation of these terrestrial and aquatic ecosystems and their sensitivity to anthropogenic pollution is tightly linked to interannual and long-term changes in climate.
Albanian Journal of Trauma and Emergency Surgery AJTES Official Publication of the Albanian Society for Trauma and Emergency Surgery -ASTES Chairman of the editorial board:

Injuries to the flexor tendons of the wrist are a separate chapter in wrist surgery. Flexor tendon injuries still remain a challenge to ensure the patient’s optimal outcome. A special problem in the exploration of hand injuries is the accurate assessment of whether there is an injury to one or more tendons, at what height the injury is, and whether it is accompanied by injury to other elements of the hand. On the volar side of the hand, both flexors of the fingers, superficial and deep, or just one of them, maybe injured. If the lesion is in the first zone depending on the severity of the injury, reinsertion or direct tenography is required. In the second zone, there are still ambiguous views on the reconstruction of the deep and superficial flexor, ie. whether the surface flexor needs to be reconstructed. Injury to the flexor tendons in the third zone requires careful exploration for possible injury to the neurovascular elements, and the fourth zone often requires the release of the carpal tunnel. In the most proximal zone of the flexor tendons, the fifth zone, injury to the main blood vessels of the hand and the nerves responsible for sensitive and motor innervation of the hand is possible. Each injury should be approached with careful preoperative examination, appropriate operative technique as well as postoperative rehabilitation in order to fully restore the function of the hand.
Elevated nocturnal respiratory rates in the mitochondria of CAM plants: current knowledge and unanswered questions

Abstract Crassulacean acid metabolism (CAM) is a metabolic adaptation that has evolved convergently in 38 plant families to aid survival in water-limited niches. Whilst primarily considered a photosynthetic adaptation, CAM also has substantial consequences for nocturnal respiratory metabolism. Here, we outline the history, current state and future of nocturnal respiration research in CAM plants, with a particular focus on the energetics of nocturnal respiratory oxygen consumption. Throughout the 20th century, research interest in nocturnal respiration occurred alongside initial discoveries of CAM, although the energetic and mechanistic implications of nocturnal oxygen consumption and links to the operation of the CAM cycle were not fully understood. Recent flux balance analysis (FBA) models have provided new insights into the role that mitochondria play in the CAM cycle. Several FBA models have predicted that CAM requires elevated nocturnal respiratory rates, compared to C3 species, to power vacuolar malic acid accumulation. We provide physiological data, from the genus Clusia, to corroborate these modelling predictions, thereby reinforcing the importance of elevated nocturnal respiratory rates for CAM. Finally, we outline five unanswered questions pertaining to nocturnal respiration which must be addressed if we are to fully understand and utilize CAM plants in a hotter, drier world.
Genetic and prenatal diagnosis of a Chinese pedigree with pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7

Abstract Objective: Biallelic pathogenic variants in TOE1 cause pontocerebellar hypoplasia type 7 (PCH7), a rare neurological condition characterized by psychomotor retardation, spastic paraplegia, seizures, gonadal abnormalities and brain anomalies. Currently, only 14 postnatally diagnosed PCH7 patients have been described. However, the prenatal clinical profile of PCH7 has not yet been reported. Method: Whole-exome sequencing (WES) was performed to screen for causal variants. Results: We report the pedigree of a Chinese woman with two eventful pregnancies with fetuses that showed brain anomalies, including microcephaly, cerebral anomalies, enlarged ventricles, corpus callosum thinning, abnormal lateral fissure, underdeveloped insula and pons and brainstem hypoplasia. Interestingly, corpus callosum thinning was observed in fetus 1 but not in fetus 2. An abnormal lateral fissure and an underdeveloped insula were shown in fetus 2 but not fetus 1. Biallelic variants c.716T > C (p.Phe239Ser) and c.955C > T (p.His319Tyr) in TOE1 were identified in both fetuses. Conclusion: We first describe the prenatal features of a Chinese pedigree with PCH7 caused by biallelic pathogenic variants in TOE1, with phenotypic variability observed even within the same family. Novel phenotypes, an abnormal lateral fissure and an underdeveloped insula were observed in the fetus in our study. These findings will enrich our knowledge of the clinical characteristics, management and genetic counseling of PCH7.