Miracle-dz/UniFAR-FTUs huggingface dataset:
An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review)

Fanconi anemia is a genetic syndrome clinically characterized by congenital malformations that affect several human systems, leads to progressive bone marrow failure and predisposes an individual to cancer, particularly in the urogenital area as well as the head and neck. It is commonly caused by the biallelic compromise of one of 22 genes involved in the FA/BRCA repair pathway in most cases. The diagnosis is based on clinical suspicion and confirmation using genetic analysis, where the chromosomal breakage test is considered the gold standard. Other diagnostic methods used include western blotting, multiplex ligation-dependent probe amplification and next-generation sequencing. This genetic condition has variable expressiveness, which makes early diagnosis difficult in certain cases. Although early diagnosis does not currently allow for improved cure rates for this condition, it does enable healthcare professionals to perform a specific systematic follow-up and, if indicated, a bone marrow transplantation that improves the mobility and mortality of affected individuals. The present review article is a theoretical revision of the pathophysiology, clinical manifestations and diagnosis methods intended for different specialists and general practitioners to improve the diagnosis of this condition.
Cochlear Synaptopathy: A Primary Factor Affecting Speech Recognition Performance in Presbycusis

The results of recent animal studies have suggested that cochlear synaptopathy may be an important factor involved in presbycusis. Therefore, here, we aimed to examine whether cochlear synaptopathy frequently exists in patients with presbycusis and to describe the effect of cochlear synaptopathy on speech recognition in noise. Based on the medical history and an audiological examination, 94 elderly patients with bilateral, symmetrical, sensorineural hearing loss were diagnosed as presbycusis. An electrocochleogram, auditory brainstem responses, auditory cortical evoked potentials, and speech audiometry were recorded to access the function of the auditory pathway. First, 65 ears with hearing levels of 41-50 dB HL were grouped based on the summating potential/action potential (SP/AP) ratio, and the amplitudes of AP and SP were compared between the two resulting groups. Second, 188 ears were divided into two groups: the normal SP/AP and abnormal SP/AP groups. The speech recognition abilities in the two groups were compared. Finally, the relationship between abnormal electrocochleogram and poor speech recognition (signal-to-noise ratio loss ≥7 dB) was analyzed in 188 ears. The results of the present study showed: (1) a remarkable reduction in the action potential amplitude was observed in patients with abnormal SP/AP ratios; this suggests that cochlear synaptopathy was involved in presbycusis. (2) There was a large proportion of patients with poor speech recognition in the abnormal SP/AP group. Furthermore, a larger number of cases with abnormal SP/AP ratios were confirmed among patients with presbycusis and poor speech recognition. We concluded that cochlear synaptopathy is not uncommon among elderly individuals who have hearing ability deficits, and it may have a more pronounced effect on ears with declining auditory performance in noisy environments.
Biocorrosion inhibition of mild steel in crude oil-water environment using extracts of Musa paradisiaca peels, Moringa oleifera leaves, and Carica papaya peels as biocidal-green inhibitors: kinetics and adsorption studies

Abstract Biocorrosion inhibition of mild steel in the crude oil-water environment was investigated in the absence and presence of Carica papaya peel extract, Musa paradisiaca peel extract, and Moringa oleifera leaf extract as potential biocidal-green inhibitors using gravimetric, polarization, and surface analysis (Inverted metallurgical microscope and Fourier transform infra-red spectroscopy) methods. Kinetics and adsorption behaviors of the extracts were determined and evaluated. Results revealed that each of the extracts functioned as biocidal-green inhibitors in the crude oil-water environment and that biocorrosion inhibition efficiency (IE%) of each extract increased with increase in extract concentration and exposure time. Maximum IE% of 97.7, 96.5, and 99.2% was achieved with Musa paradisiaca peel extract, Moringa oleifera leaf extract, and Carica papaya peel extract, respectively, at 4000 mg/l extract concentration and 35 d exposure time. Polarization studies indicated that each of the extracts acts as a mixed-type inhibitor. Mild steel susceptibility to biocorrosion was significantly reduced by each of the extracts through biofilm development suppression and extract adsorption onto the mild steel surface which obeyed Langmuir, Freundlich, Temkin, and Flory-Huggins isotherm models. Kinetics of mild steel biocorrosion inhibition followed a Monod form of kinetics (Type A). Gibbs free energy of adsorption values for Musa paradisiaca peel extract (−9.65 kJ/mol), Moringa oleifera leaf extract (−9.57 kJ/mol), and Carica papaya peel extract (−9.71 kJ/mol) showed that each extract adsorption was spontaneous and of physical adsorption.
2D Titanium Carbide/Reduced Graphene Oxide Heterostructures for Supercapacitor Applications

Solution-processable two-dimensional (2D) materials offer the possibility of manufacturing heterostructures with various properties, creating a way to tune materials towards a specific application. Two different 2D materials, titanium carbide MXene (Ti3C2Tx) and reduced graphene oxide (rGO), have shown promising results for supercapacitor applications due to their flake-like morphology, high conductivity; and ability to intercalate molecules or ions for charge storage. Here, we demonstrate the self-assembly of a heterostructure between negatively charged Ti3C2Tx and positively charged modified rGO after shear mixing. Changes in zeta (z) potential, X-ray diffraction (XRD) patterns; and Raman spectra confirm the assembly of this heterostructure. The produced rGO : Ti3C2Tx heterostructures were used as electrodes for supercapacitors. The addition of rGO to Ti3C2Tx allowed some widening of the voltage window. Moreover, due to the synergistic effect of these materials, an increase of the capacitance value was observed. An electrode film composed of rGO (1 wt.%) and Ti3C2Tx (99 wt.%) achieved capacitance values up to 254 F · g 1 at 2 mV · s 1 and 193 F · g 1 at 100 mV · s .
Influence of stubble quality and degree of soil-stubble contact on N 2 O emission

Cosentino V.R. N. , Minervini M.G. , Taboada M.A. (2017): Influence of stubble quality and degree of soil-stubble contact on N2O emission. Plant Soil Environ. , 63: 289–294. The organic residue position and C/N ratio regulate decomposition rate and, therefore, nitrogen (N) release to the soil. The N2O emission from soil is produced by nitrification and denitrification processes. These processes are affected by the mineral N concentration, water filled pore space (WFPS) and soil temperature. The N2O emission from soils covered by corn and soybean residues has been little studied so far. The aim of the present study was to evaluate the C/N ratio of corn and soybean residues and their contact degree with the soil on soil N2O emissions. A greenhouse experiment was conducted with a completely randomized design and N2O emission was determined using closed chambers. The N2O emissions were affected by the residue position and not by its origin (soybean = corn). Treatments with residue on the surface had the highest N2O emissions at the beginning of the trial, while residue incorporation showed constant values of N2O emission during the experiment. Soil N2O emissions were explained by two controlling variables: the WFPS and the N-NO3 – soil concentration. The WFPS separated the emission values of N2O into two groups (threshold value near 77% WFPS). When the WFPS exceeded the threshold value, the emissions of N2O were partially explained by the concentration of N-NO3 – soil.
Oxygen-enriched Air Decreases Ventilation during High-intensity Fin-swimming Underwater

Abstract Oxygen-enriched air is commonly used in the sport of SCUBA-diving and might affect ventilation and heart rate, but little work exists for applied diving settings. We hypothesized that ventilation is decreased especially during strenuous underwater fin-swimming when using oxygen-enriched air as breathing gas. Ten physically-fit divers (age: 25±4; 5 females; 67±113 open-water dives) performed incremental underwater fin-swimming until exhaustion at 4 m water depth with either normal air or oxygen-enriched air (40% O2) in a double-blind, randomized within-subject design. Heart rate and ventilation were measured throughout the dive and maximum whole blood lactate samples were determined post-exercise. ANOVAs showed a significant effect for the factor breathing gas (F(1, 9)=7.52; P=0.023; η2 p=0.455), with a lower ventilation for oxygen-enriched air during fin-swimming velocities of 0.6 m·s−1 (P=0.032) and 0.8 m·s−1 (P=0.037). Heart rate, lactate, and time to exhaustion showed no significant differences. These findings indicate decreased ventilation by an elevated oxygen fraction in the breathing gas when fin-swimming in shallow-water submersion with high velocity (>0.5 m·s−1). Applications are within involuntary underwater exercise or rescue scenarios for all dives with limited gas supply.
Host-dependent editing of SARS-CoV-2 in COVID-19 patients

ABSTRACT A common trait among RNA viruses is their high capability to acquire genetic variability due to viral and host mechanisms. Next-generation sequencing (NGS) analysis enables the deep study of the viral quasispecies in samples from infected individuals. In this study, the viral quasispecies complexity and single nucleotide polymorphisms of the SARS-CoV-2 spike gene of coronavirus disease 2019 (COVID-19) patients with mild or severe disease were investigated using next-generation sequencing (Illumina platform). SARS-CoV-2 spike variability was higher in patients with long-lasting infection. Most substitutions found were present at frequencies lower than 1%, and had an A → G or T → C pattern, consistent with variants caused by adenosine deaminase acting on RNA-1 (ADAR1). ADAR1 affected a small fraction of replicating genomes, but produced multiple, mainly non-synonymous mutations. ADAR1 editing during replication rather than the RNA-dependent RNA polymerase (nsp12) was the predominant mechanism generating SARS-CoV-2 genetic variability. However, the mutations produced are not fixed in the infected human population, suggesting that ADAR1 may have an antiviral role, whereas nsp12-induced mutations occurring in patients with high viremia and persistent infection are the main source of new SARS-CoV-2 variants.
The Abundance and Organization of Salmonella Extracellular Polymeric Substances in Gallbladder-Mimicking Environments and In Vivo

Salmonella enterica serovar Typhi causes chronic infections by establishing biofilms on cholesterol gallstones. The production of extracellular polymeric substances (EPSs) is key to biofilm development, and biofilm architecture depends on which EPSs are made. ABSTRACT Salmonella enterica serovar Typhi causes chronic infections by establishing biofilms on cholesterol gallstones. The production of extracellular polymeric substances (EPSs) is key to biofilm development, and biofilm architecture depends on which EPSs are made. The presence and spatial distribution of Salmonella EPSs produced in vitro and in vivo were investigated in Salmonella enterica serovar Typhimurium and S. Typhi biofilms by confocal microscopy. Comparisons between serovars and EPS-mutant bacteria were carried out by examining growth on cholesterol-coated surfaces, with human gallstones in ox or human bile, and in mice with gallstones. On cholesterol-coated surfaces, no major differences in EPS biomass were found between serovars. Cocultured biofilms containing wild-type (WT) and EPS-mutant bacteria demonstrated WT compensation for EPS mutations. Analysis of biofilm EPSs from gallbladder-mimicking conditions found that culture in human bile more consistently replicated the relative abundance and spatial organization of each EPS on gallstones from the chronic mouse model than culture in ox bile. S. Typhimurium biofilms cultured in vitro on gallstones in ox bile exhibited colocalized pairings of curli fimbriae/lipopolysaccharide and O-antigen capsule/cellulose, while these associations were not present in S. Typhi biofilms or in mouse gallstone biofilms. In general, the inclusion of human bile with gallstones in vitro replicated biofilm development on gallstones in vivo, demonstrating the strength of this model for studying biofilm parameters or EPS-directed therapeutic treatments.
Ancient divergence of Indian and Tibetan wolves revealed by recombination‐aware phylogenomics

The grey wolf (Canis lupus) expanded its range across Holarctic regions during the late Pleistocene. Consequently, most grey wolves share recent (<100,000 years ago) maternal origins corresponding to a widespread Holarctic clade. However, two deeply divergent (200,000–700,000 years ago) mitochondrial clades are restricted, respectively, to the Indian subcontinent and the Tibetan Plateau, where remaining wolves are endangered. No genome‐wide analysis had previously included wolves corresponding to the mitochondrial Indian clade or attempted to parse gene flow and phylogeny. We sequenced four Indian and two Tibetan wolves and included 31 additional canid genomes to resolve the phylogenomic history of grey wolves. Genomic analyses revealed Indian and Tibetan wolves to be distinct from each other and from broadly distributed wolf populations corresponding to the mitochondrial Holarctic clade. Despite gene flow, which was reflected disproportionately in high‐recombination regions of the genome, analyses revealed Indian and Tibetan wolves to be basal to Holarctic grey wolves, in agreement with the mitochondrial phylogeny. In contrast to mitochondrial DNA, however, genomic findings suggest the possibility that the Indian wolf could be basal to the Tibetan wolf, a discordance potentially reflecting selection on the mitochondrial genome. Together, these findings imply that southern regions of Asia have been important centers for grey wolf evolution and that Indian and Tibetan wolves represent evolutionary significant units (ESUs). Further study is needed to assess whether these ESUs warrant recognition as distinct species. This question is especially urgent regarding the Indian wolf, which represents one of the world's most endangered wolf populations.
Intraparotid Facial Nerve Schwannoma Mimicking Primary Parotid Neoplasm

The following report is of a 36-year-old male who presented with a growing mass in the region of the parotid gland. Initial fine needle aspiration biopsy suggested a primary neoplasm of the parotid gland, but subsequent frozen section analysis intraoperatively demonstrated a schwannoma of the facial nerve. An intracapsular enucleation of the schwannoma was performed in order to preserve the fibers of the motor nerve.
Dietary supplementation of Solanum aethiopicum and Solanecio biafrae leaves alters stress and immune responses, antioxidant status, and meat quality in broilers raised in a hot-dry environment

ABSTRACT 1. This study investigated the influence of dietary supplementation of Solanum aethiopicum and Solanecio biafrae leaves, which have nutraceutical properties, on stress response, cytokine expression, antioxidant status, blood chemistry, abdominal fat and meat quality in broilers reared in a hot, dry environment. 2. One day old, Ross 308 chicks (n = 350) were randomly allotted to basal diets containing either no supplement (D1); 2.5 g/kg Solanum aethiopicum leaf (SAL; D2); 5 g/kg SAL (D3); 2.5 g/kg Solanecio biafrae leaf (SBL; D4); or 5 g/kg SBL (D5) for 42 d. Birds were reared at 34 ± 2°C and 40–50% relative humidity for 6 h/d from 22–42 d. Each dietary group was replicated in seven pens containing 10 chicks. 3. In the period 1–21 d, body weight gain, feed efficiency and feed intake were not influenced by diet. At 22–42 and 1–42 d, birds supplemented with SAL and SBL had higher (P < 0.05) body weight gain and feed efficiency than the D1 birds. Cloaca temperature, carcase cuts and relative organ weight did not differ between diets. The D3 birds had higher (P < 0.05) erythrocytes and haemoglobin compared with other birds. Dietary supplements reduced (P < 0.05) mortality, abdominal fat, serum total cholesterol, corticosterone, glucose and blood aspartate aminotransferase levels. 4. The treatments up-regulated (P < 0.05) splenic intelukin-10, and down-regulated (P < 0.05) tumour necrosis factor-α and interleukin-1β genes. A dose-dependent improvement (P < 0.05) in antioxidant enzyme activities and total antioxidant capacity of serum and breast muscle were found in the supplemented birds. The breast meat of the supplemented birds had lower (P < 0.05) carbonyl and malondialdehyde contents, and higher (P < 0.05) water holding capacity and redness compared with the non-supplemented meat. 5. These results illustrated that supplementation with either 5 g/kg SAL or 5 g/kg SBL attenuated the deleterious effects of heat stress in broiler chickens.
Upregulation of FoxM1 protects against ischemia/reperfusion-induced myocardial injury.

BACKGROUND Ischemia/reperfusion (I/R) induced lethal tissue injury in myocardium. FoxM1 (Forkhead Box M1), expressed in proliferating cardiac progenitor cells, could regulate myocardial development. However, the role of FoxM1 in I/R-induced myocardial injury has not been reported yet. METHODS Rats were conducted with regional ischemia followed by reperfusion in myocardium through ligation of the left anterior descending coronary artery. Triphenyl-tetrazolium chloride staining was utilized to assess the infarct size. ELISA was performed to detect activities of creatine kinase-MB (CK-MB) and lactate dehydrogenase (LDH). Protein expression of FoxM1 in heart tissues and H9c2 were determined by western blot. H9c2 cells were used to establish a hypoxia/reoxygenation cell model, and the cell viability, proliferation and apoptosis were evaluated by MTT, EdU (5-ethynyl-2'-deoxyuridine) staining and TUNEL (terminal deoxynucleotidyl transferase dUTP nick end labeling) staining, respectively. Adenovirus (Ad)-mediated over-expression of FoxM1 was injected into the anterior wall of the left ventricle of rats to evaluate the role of FoxM1 on in vivo I/R-induced myocardial injury. RESULTS FoxM1 was reduced in heart tissues isolated from rats post myocardial I/R injury. Forced FoxM1 expression increased cell viability and proliferation of hypoxia/reoxygenation-induced H9c2, while repressed the cell apoptosis with increased Bcl-2 and decreased Bax and cleaved caspase-3. Injection of Ad-FoxM1 suppressed infarct size of the heart and decreased activities of CK-MB and LDH. CONCLUSION FoxM1 attenuated I/R-induced myocardial injury, providing potential therapeutic target for the disease.
A Meta-Learning Approach for Fast Personalization of Modality Translation Models in Wearable Physiological Sensing

Modality translation grants diagnostic value to wearable devices by translating signals collected from low-power sensors to their highly-interpretable counterparts that are more familiar to healthcare providers. For instance, bio-impedance (Bio-Z) is a conveniently collected modality for measuring physiological parameters but is not highly interpretable. Thus, translating it to a well-known modality such as electrocardiogram (ECG) improves the usability of Bio-Z in wearables. Deep learning solutions are well-suited for this task given complex relationships between modalities generated by distinct processes. However, current algorithms usually train a single model for all users that results in ignoring cross-user variations. Retraining for new users usually requires collecting abundant labeled data, which is challenging in healthcare applications. In this paper, we build a modality translation framework to translate Bio-Z to ECG by learning personalized user information without training several independent architectures. Furthermore, our framework is able to adapt to new users in testing using very few samples. We design a meta-learning framework that contains shared and user-specific parameters to account for user differences while learning from the similarity amongst user signals. In this model, a meta-learner approximated by a neural network learns how to learn user-specific parameters and can efficiently update them in testing. Our experiments show that the proposed model reduces the percentage root mean square difference (PRD) by 41% compared to training a single model for all users and by 36% compared to training independent models for each user. When adapting the model to new users, our model outperforms fine-tuning a pre-trained model through back-propagation by 40% using as few as two new samples in testing.
Motivated and able: when is facebook used to seek friendship and social support?

Abstract When employing adaptive behaviors to a changing environment, ability and motivation work hand in hand. Our goal was to investigate how ability and motivation interact when utilizing Facebook for social support and friendship. We predicted that well-being and perceived social support would be negatively related to motivation to use Facebook for social support and friendship. We also predicted that computer-mediated communication (CMC) competence would positively related to these motives. A survey of 282 college students tested our mediational model. Results indicated that perceived social support mediated the relationship between well-being and motivations to use Facebook for social support, but only when CMC competence was high, meaning students experienced this relationship only when both motivated and able to use Facebook for the purpose of seeking social support. The results suggest that interventions to increase CMC competence through Facebook use can help students garner greater social support and improve overall well-being.