Miracle-dz/UniFAR-FTUs huggingface dataset:
Telehealth: improving maternity services by modern technology

Hypertension is considered one of the most common medical disorders causing complexities in pregnancy. It could be a newly developed pregnancy-induced hypertension (PIH) or a pre-existing hypertension developing into superimposed pre-eclamptic toxaemia. PIH affects approximately 10% of pregnancies and can have a serious impact on both maternal and fetal well-being; hence requires frequent monitoring and timely intervention. National Institute for Health and Care Excellence (NICE) guidelines recommends once or twice weekly monitoring of blood pressure for such patients. The required frequent monitoring comes with certain implications for patients and healthcare services. An average patient with PIH would need to see her healthcare provider once or twice a week until delivery and 6 weeks thereafter. This certainly increases pressure on limited National Health Service (NHS) resources. Home-based monitoring using Telehealth technology can represent a potential solution for achieving good-quality care for the patient without increasing the workload for healthcare providers. We used ‘Florence’, a text-based technology platform to support home monitoring. We tested its acceptability, feasibility and safety to replace face-to-face appointments for blood pressure monitoring in selected patients with PIH. We implemented our project in three progressive phases using a plan, do, study, act methodology. Florence, telehealth technology was used for blood pressure monitoring instead of face-to-face appointments, and the effect of this innovative technology on the services and the patient experience was studied and necessary modifications were made before progression into the next phase. We recruited 75 patients over 12 months through the progressive phases and replaced around 800 face-to-face appointments by remotely supervised monitoring sessions with Florence successfully, with improved care and patient satisfaction. We also achieved better compliance with the NICE guidelines for blood pressure monitoring in PIH. Our project concluded that Telehealth can be a potential solution for improving care in maternity services, with lesser burden on NHS resources.
Genetic parkinsonisms and cancer: a systematic review and meta-analysis

Abstract Genes associated with parkinsonism may also be implicated in carcinogenesis, but their interplay remains unclear. We systematically reviewed studies (PubMed 1967–2019) reporting gene variants associated with both parkinsonism and cancer. Somatic variants were examined in cancer samples, whereas germline variants were examined in cancer patients with both symptomatic and asymptomatic (carriers) genetic parkinsonisms. Pooled proportions were calculated with random-effects meta-analyses. Out of 9,967 eligible articles, 60 were included. Of the 28 genetic variants associated with parkinsonism, six were also associated with cancer. In cancer samples, SNCA was predominantly associated with gastrointestinal cancers, UCHL1 with breast cancer, and PRKN with head-and-neck cancers. In asymptomatic carriers, LRRK2 was predominantly associated with gastrointestinal and prostate cancers, PRKN with prostate and genitourinary tract cancers, GBA with sarcoma, and 22q11.2 deletion with leukemia. In symptomatic genetic parkinsonism, LRRK2 was associated with nonmelanoma skin cancers and breast cancers, and PRKN with head-and-neck cancers. Cancer was more often manifested in genetic parkinsonisms compared to asymptomatic carriers. These results suggest that intraindividual genetic contributions may modify the co-occurrence of cancer and neurodegeneration.
Nonsyndromic orofacial clefts in Chile: LINE-1 methylation and MTHFR variants.

Aim: To evaluate the risk of nonsyndromic orofacial clefts (NSOFCs) associated with LINE-1 methylation, as a marker of global DNA methylation, and the effect of MTHFR functional variants on this variable. Patients & methods: LINE-1 methylation was evaluated by bisulfite modification coupled to DNA pyrosequencing in 95 NSOFC cases and 95 controls. In these subjects, MTHFR genotypes for variants c.C677T (rs1801133) and c.A1298C (rs1801131) were obtained. Results: Middle levels (second tertile) of LINE-1 methylation increase the risk of NSOFCs. In addition, LINE-1 methylation depends on c.A1298C genotypes in controls but not in cases. Conclusion: A nonlinear association between global DNA methylation and NSOFCs was detected in this Chilean population, which appears to be influenced by MTHFR functional variants.
PSMC3 is required for spermatogonia niche establishment in mouse spermatogenesis

Males produce millions of spermatozoa each day, which are originated from spermatogonia. Spermatogonia niche establishment and maintenance and the subsequent haploidization of spermatocytes in meiosis are hallmarks of this process. The function of the individual players and coordinated mechanisms regulating different stages of gametogenesis in mammals are not well understood. In this work we focused on the role of PSMC3 in mouse gametogenesis. We observed that Psmc3 is highly expressed in mouse testis, and it is widely expressed in different stages of gamete formation. Conditional deletion of Psmc3 results in both male and female impairment of gonad development at early pre-meiotic stages, but has no apparent effect on meiosis progression. This is likely a consequence of abnormal spermatogonia niche establishment and/or maintenance, revealed by a massive loss of undifferentiated spermatogonia. Our work defines a fundamental role of PSMC3 functions in spermatogenesis during spermatogonia development with direct implications in fertility.
Boreal river impoundments caused nearshore fish community assemblage shifts but little change in diversity: a multiscale analysis

River flow regulation, fragmentation, and changes in water quality caused by dams have varying effects on aquatic biodiversity and ecosystem functions, but are not clearly resolved in boreal ecosystems. We adopted a multiscale approach to quantify fish community trajectories over 20 years using a network of sites spread across four reservoirs in two hydroelectricity complexes in northern Quebec, where other anthropogenic factors have been negligible. Across three spatial scales, we found little evidence of directional temporal trends in diversity relative to reference sites. Using beta-diversity analyses, we also detected a high degree of stability in fish composition over time and space at the complex and reservoir scales. However, changes in species assemblage following impoundment were detected at the scale of the sampling station. At this scale, we found that some species consistently benefited (coregonids and pikes) from impoundment, whereas others were detrimentally affected (suckers and one salmonid). Overall, we conclude that examining different scales is key when trying to understand the impacts of humans on biodiversity and in formulating management recommendations.
Distinctions among electroconvulsion- and proconvulsant-induced seizure discharges and native motor patterns during flight and grooming: Quantitative spike pattern analysis in Drosophila flight muscles

In Drosophila, high-frequency electrical stimulation across the brain triggers a highly stereotypic repertoire of spasms known as electroconvulsive seizures (ECS). The distinctive ECS spiking discharges manifest across the nervous system and can be stably assessed throughout the seizure repertoire in the large indirect flight muscles (DLMs). ECS discharges in DLMs have been extensively used to monitor seizure activities, notably in stress (‘bang’)-sensitive mutants. However, the relationships between ECS-spike patterns and native motor programs, including flight and grooming, are not known and their similarities and distinctions remain to be characterized. We employed quantitative spike pattern analyses to reveal distinctions amongst ECS discharges, flight and grooming motor patterns in terms of: 1) overall firing frequency, 2) spike timing between contralateral fibers, and 3) short-term variability in spike interval regularity (CV2) and instantaneous firing frequency (ISI-1). We then examined DLM firing phenotypes in well-established mutants in excitatory cholinergic (Cha), inhibitory GABAergic (Rdl) and electrical (ShakB) synaptic transmission. The results provide an initial glimpse on the vulnerability of individual motor patterns to perturbations of respective synaptic transmission systems. We found marked alterations of ECS discharge spike patterns in terms of either seizure threshold, spike frequency or spiking regularity. In contrast, no gross alterations during grooming and only a minor reduction of firing frequency during Rdl mutant flight were observed, suggesting a role for GABAergic modulation of flight motor programs. Picrotoxin (PTX), a known pro-convulsant that inhibits GABAA receptors, induced DLM seizure patterns that displayed some features, e.g. left-right coordination and ISI-1 range, that could be found in flight or grooming, but distinct from ECS discharges. Our results indicate that these quantitative techniques may be employed to reveal overlooked relationships among aberrant motor patterns and native DLM motor programs in genetic and pharmacological analyses of underlying cellular and neural circuit function.
The cholinergic anti-inflammatory pathway in chronic kidney disease—review and vagus nerve stimulation clinical pilot study

Abstract Inflammation and autonomic dysfunction are common findings in chronic and end-stage kidney disease and contribute to a markedly increased risk of mortality in this patient population. The cholinergic anti-inflammatory pathway (CAP) is a vagal neuro-immune circuit that upholds the homoeostatic balance of inflammatory activity in response to cell injury and pathogens. CAP models have been examined in preclinical studies to investigate its significance in a range of clinical inflammatory conditions and diseases. More recently, cervical vagus nerve stimulation (VNS) implants have been shown to be of potential benefit for patients with chronic autoimmune diseases such as rheumatoid arthritis and inflammatory bowel disease. We have previously shown that dialysis patients have a functional CAP ex vivo. Here we review the field and the potential role of the CAP in acute kidney injury and chronic kidney disease (CKD) as well as in hypertension. We also present a VNS pilot study in haemodialysis patients. Controlling inflammation by neuroimmune modulation may lead to new therapeutic modalities for improved treatment, outcome, prognosis and quality of life for patients with CKD.
Immediate Effects of Transcutaneous Spinal Cord Stimulation on Motor Function in Chronic, Sensorimotor Incomplete Spinal Cord Injury

Deficient ankle control after incomplete spinal cord injury (iSCI) often accentuates walking impairments. Transcutaneous electrical spinal cord stimulation (tSCS) has been shown to augment locomotor activity after iSCI, presumably due to modulation of spinal excitability. However, the effects of possible excitability modulations induced by tSCS on ankle control have not yet been assessed. This study investigated the immediate (i.e., without training) effects during single-sessions of tonic tSCS on ankle control, spinal excitability, and locomotion in ten individuals with chronic, sensorimotor iSCI (American Spinal Injury Association Impairment Scale D). Participants performed rhythmic ankle movements (dorsi- and plantar flexion) at a given rate, and irregular ankle movements following a predetermined trajectory with and without tonic tSCS at 15 Hz, 30 Hz, and 50 Hz. In a subgroup of eight participants, the effects of tSCS on assisted over-ground walking were studied. Furthermore, the activity of a polysynaptic spinal reflex, associated with spinal locomotor networks, was investigated to study the effect of the stimulation on the dedicated spinal circuitry associated with locomotor function. Tonic tSCS at 30 Hz immediately improved maximum dorsiflexion by +4.6° ± 0.9° in the more affected lower limb during the rhythmic ankle movement task, resulting in an increase of +2.9° ± 0.9° in active range of motion. Coordination of ankle movements, assessed by the ability to perform rhythmic ankle movements at a given target rate and to perform irregular movements according to a trajectory, was unchanged during stimulation. tSCS at 30 Hz modulated spinal reflex activity, reflected by a significant suppression of pathological activity specific to SCI in the assessed polysynaptic spinal reflex. During walking, there was no statistical group effect of tSCS. In the subgroup of eight assessed participants, the three with the lowest as well as the one with the highest walking function scores showed positive stimulation effects, including increased maximum walking speed, or more continuous and faster stepping at a self-selected speed. Future studies need to investigate if multiple applications and individual optimization of the stimulation parameters can increase the effects of tSCS, and if the technique can improve the outcome of locomotor rehabilitation after iSCI.
Host adaptation and microbial competition drive Ralstonia solanacearum phylotype I evolution in the Republic of Korea

Bacterial wilt caused by the Ralstonia solanacearum species complex (RSSC) threatens the cultivation of important crops worldwide. We sequenced 30 RSSC phylotype I ( R. pseudosolanacearum ) strains isolated from pepper (Capsicum annuum) and tomato (Solanum lycopersicum) across the Republic of Korea. These isolates span the diversity of phylotype I, have extensive effector repertoires and are subject to frequent recombination. Recombination hotspots among South Korean phylotype I isolates include multiple predicted contact-dependent inhibition loci, suggesting that microbial competition plays a significant role in Ralstonia evolution. Rapid diversification of secreted effectors presents challenges for the development of disease-resistant plant varieties. We identified potential targets for disease resistance breeding by testing for allele-specific host recognition of T3Es present among South Korean phyloype I isolates. The integration of pathogen population genomics and molecular plant pathology contributes to the development of location-specific disease control and development of plant cultivars with durable resistance to relevant threats.
Correlation and heritability estimates of seedling traits under salt stress conditions of bread wheat genotypes

The current study was aimed to estimate correlation and heritability of different seedling and physiological attributes of Triticum aestivum L. genotypes under normal and salinity stress conditions. In this context, a set of 22 bread wheat genotypes were grown in CRD with three replications having two treatments (control and 12dSm). Mean squares from analysis of variance demonstrated significant (P ≤ 0.01) with respect to treatment effect, genotype differences and treatment x genotype interaction on all studied parameters, revealing that evaluated bread wheat genotypes possessed valuable genetic resources, which may further be exploited in future breeding programs. With regard to correlation results obtained from normal and salinity stress conditions, the traits root length and shoot length associated positively and significantly with other seedling and physiological traits, suggesting that rise in any seedling/physiological trait congruently improve the other traits. Considering the heritability estimates, all traits showed high heritability under normal and stress conditions. The occurrence of high broad sense heritability in the present investigation demonstrated the suitability of genotypes for breeding programs for stress environments.
Post‐translational modifications in effectors and plant proteins involved in host–pathogen conflicts

J. Tahir , M. Rashid and A. J. Afzal* The New Zealand Institute for Plant & Food Research Limited, Palmerston North, New Zealand; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, New York 11790; Department of Plant Soil, and Agricultural Systems, Southern Illinois University, Carbondale, Illinois 62901, USA; and Division of Science, New York University, Saddiyat Island Campus, Abu Dhabi, UAE
The association between the lack of safe drinking water and sanitation facilities with intestinal Entamoeba spp infection risk: A systematic review and meta-analysis

Intestinal protozoa infections are responsible for considerable morbidity and mortality, especially where the exposed population suffers from a lack of drinking water and sanitation facilities. In this study, the association between the lack of safe drinking water and sanitation (toilet) facilities with intestinal Entamoeba spp infection in the children (5–11 years), adult (18–55 years), and all age (5–55 years) were assessed. For this purpose, some of the international databases such as Scopus, PubMed, Web of Science, and Embase were screened to up to 7 June 2019 in order to retrieve the related citations. Also, the pooled odds ratios (ORs) following 95% confidence intervals (CIs) were calculated using a random-effects model. Twenty-nine articles with 36 studies were included while the OR extracted or calculated by using 2 × 2 contingency tables. However, the ingestion of contaminated water insignificantly can increase the odds ratio (OR) of Entamoeba spp infection (OR 1.01, (95% confidence interval [CI] 0.58 to 1.43), no access to sanitation (toilet) facilities significantly can increase odds of Entamoeba spp infection (OR 1.18, 95% CI 1.05 to 1.32). The meta-regression analysis showed that over time, odds of intestinal Entamoeba spp infection increased in both lack of safe drinking water (Coefficient: 3.24, P-value < 0.01) and sanitation (toilet) facilities (Coefficient: 2.36, P-value < 0.05) subgroups. Considering the findings, lack of safe drinking water resulted in a further increase in intestinal Entamoeba spp infection among adult (OR: 2.76), children (OR = 0.57) and all age groups (OR: 1.50), and also lack of sanitation (toilet) facilities resulted in further increase intestinal Entamoeba spp infection in children (OR: 1.06), adult (OR: 1.26) and all age (OR: 1.16). In this context, the lack of safe drinking water and sanitation facilities (toilet) was associated with a high risk of intestinal Entamoeba spp infection. Further attempts to providing public health facilities can control the prevalence of intestinal Entamoeba spp.
Relationships among Root–Shoot Ratio, Early Growth, and Health of Hybrid Poplar and Willow Clones Grown in Different Landfill Soils

Root–shoot allocation of biomass is an underrepresented criterion that could be used for tree selection in phytoremediation. We evaluated how root–shoot allocations relate to biomass production and overall health of poplar and willow clones grown in landfill soil treatments. Fifteen poplar clones and nine willows were grown in a greenhouse for 65 days in soils from five Wisconsin landfills and one greenhouse control. We tested for treatment, clone, and interaction differences in root–shoot ratio (RSR), health, and growth index, along with relationships between RSR with diameter, health, height, total biomass, and growth index. Treatments, clones, and their interactions were not significantly different for poplar RSR, but willow clones differed (p = 0.0049). Health significantly varied among willow clones (p < 0.0001) and among the clone × treatment interaction for poplars (p = 0.0196). Analysis of means showed that willow clones ‘Allegany’ and ‘S365’ exhibited 28% and 21% significantly greater health scores than the overall mean, respectively. Root–shoot ratio was not significantly correlated with health in either genus but was positively correlated with growth index for poplars, which was corroborated via regression analyses. Selecting clones based on a combination of biomass allocation, health, and growth indices may be useful for using phyto-recurrent selection to satisfy site-specific ecosystem services objectives.
Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town.

OBJECTIVE Familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein-cholesterol and markedly increased cardiovascular risk. In patients with a genetic diagnosis, low-density lipoprotein receptor (LDLR) mutations account for >90% of cases, apolipoprotein B (APOB) mutations for ≈5% of cases, while proprotein convertase subtilisin kexin type 9 (PCSK9) gain of function mutations are rare (<1% of cases). We aimed to evaluate the functional impact of several novel PCSK9 variants in a cohort of patients with FH by genetic cascade screening and in vitro functionality assays. Approach and Results: Patients with clinically diagnosed FH underwent genetic analysis of LDLR, and if negative, sequential testing of APOB and PCSK9. We analyzed cosegregation of hypercholesterolemia with novel PCSK9 variants. Gain of function status was determined by in silico analyses and validated by in vitro functionality assays. Among 1055 persons with clinical FH, we identified nonsynonymous PCSK9 variants in 27 (2.6%) patients and 7 of these carried one of the 4 previously reported gain of function variants. In the remaining 20 patients with FH, we identified 7 novel PCSK9 variants. The G516V variant (c.1547G>T) was found in 5 index patients and cascade screening identified 15 additional carriers. Low-density lipoprotein-cholesterol levels were higher in these 15 carriers compared with the 27 noncarriers (236±73 versus 124±35 mg/dL; P<0.001). In vitro studies demonstrated the pathogenicity of the G516V variant. CONCLUSIONS In our study, 1.14% of cases with clinical FH were clearly attributable to pathogenic variants in PCSK9. Pathogenicity is established beyond doubt for the G516V variant.
Motion blur remover using total variation constrained least squares method with user configurable PSF and blind PSF estimation

 Abstract — removal of blur from the blurred images, which is commonly preliminary step for de-blurring process, has become one of the most growing research areas of these days. Now days scholars have proposed new methods or improved blur detection algorithms which are based on blind de-convolution, point spread function (PSF) and many more. Motion blur retains some information about motion, based on which motion may be recovered from blurred images. This is a difficult problem, as the situations of motion blur can be quite complicated, such as they may be space variant, nonlinear, and local. A motion blur is characterized by its point spread function (PSF) whose parameters are closely related to the motion. The simplest motion blur is the space-invariant linear motion blur, which has been studied extensively. In practice, however, as motion can be quite complex, motion blurs can be much more complicated than this simple case. For example, the blur can be space-variant, nonlinear, local and multiple. The purpose of this paper is to extend the work area of already work done.