Miracle-dz/UniFAR-FTUs huggingface dataset:
Canadian Guidelines for Hereditary Transthyretin Amyloidosis Polyneuropathy Management

ABSTRACT: Hereditary transthyretin-mediated (hATTR) amyloidosis is a progressive disease caused by mutations in the TTR gene leading to multisystem organ dysfunction. Pathogenic TTR aggregation, misfolding, and fibrillization lead to deposition of amyloid in multiple body organs and frequently involve the peripheral nerve system and the heart. Common neurologic manifestations include: sensorimotor polyneuropathy (PN), autonomic neuropathy, small-fiber PN, and carpal tunnel syndrome. Many patients have significant progression due to diagnostic delays as hATTR PN is not considered within the differential diagnosis. Recently, two effective novel disease-modifying therapies, inotersen and patisiran, were approved by Health Canada for the treatment of hATTR PN. Early diagnosis is crucial for the timely introduction of these disease-modifying treatments that reduce impairments, improve quality of life, and extend survival. In this guideline, we aim to improve awareness and outcomes of hATTR PN by making recommendations directed to the diagnosis, monitoring, and treatment in Canada. RÉSUMÉ : Lignes directrices sur la prise en charge de l’amylose héréditaire à transthyrétine, accompagnée de polyneuropathie, au Canada. L’amylose héréditaire à transthyrétine (ATTRh) est une maladie évolutive, causée par des mutations du gène de la transthyrétine (TTR), qui entraînent un dysfonctionnement plurisystémique. L’agrégation, le mauvais repliement et la fibrillisation pathogènes de la TTR aboutissent au dépôt de protéines amyloïdes dans plusieurs organes, et affectent souvent le système nerveux périphérique et le cœur. Les troubles neurologiques fréquents comprennent une polyneuropathie sensorimotrice (PN), une neuropathie autonome, une polyneuropathie des petites fibres et le syndrome du canal carpien. Chez bon nombre de patients, la maladie a connu une évolution importante en raison de la pose tardive du diagnostic, la PN-ATTRh ne faisant pas l’objet d’un diagnostic différentiel. Santé Canada a approuvé, depuis peu, deux nouveaux médicaments modificateurs de la PN-ATTRh et efficaces contre l’affection, soit l’inotersen et le patisiran. La pose précoce du diagnostic revêt une importance cruciale dans l’instauration, en temps opportun, de ces tout nouveaux traitements qui atténuent les troubles, améliorent la qualité de vie et prolongent la survie. Les auteurs, par l’élaboration de la nouvelle ligne directrice, espèrent sensibiliser la communauté médicale à la PN-ATTRh, et améliorer les résultats cliniques qui y sont associés, en formulant des recommandations sur le diagnostic et le traitement de la maladie au Canada ainsi que sur la surveillance de son évolution.
Recognising, supporting and understanding Autistic adults in general practice settings.

BACKGROUND The health and wellbeing of Autistic people are well below those of their non-Autistic counterparts. With studies showing a reduced life expectancy and poor physical and mental health, it is important that healthcare professionals strive towards improving the lives of Autistic people by recognising those who are undiagnosed and/or misdiagnosed and providing meaningful support. OBJECTIVE The aim of this article is to empower general practitioners (GPs) to feel comfortable in recognising potentially undiagnosed Autistic adults. The authors aim to further the understanding of the Autistic experience, including frequently co-occurring physical and mental health conditions, and to give GPs some tools to make the experience of accessing healthcare less problematic for Autistic people. DISCUSSION The healthcare experiences of Autistic adults will be greatly improved with a knowledgeable, understanding and accepting GP as the cornerstone of their care.
Design and construction of a novel measurement device for mechanical characterization of hydrogels: A case study

Natural biopolymer-based hydrogels especially agarose and collagen gels, considering their biocompatibility with cells and their capacity to mimic biological tissues, have widely been used for in-vitro experiments and tissue engineering applications in recent years; nevertheless their mechanical properties are not always optimal for these purposes. Regarding the importance of the mechanical properties of hydrogels, many mechanical characterization studies have been carried out for such biopolymers. In this work, we have focused on understanding the mechanical role of agarose and collagen concentration on the hydrogel strength and elastic behavior. In this direction, Amirkabir Magnetic Bead Rheometry (AMBR) characterization device equipped with an optimized electromagnet, was designed and constructed for the measurement of hydrogel mechanical properties. The operation of AMBR set-up is based on applying a magnetic field to actuate magnetic beads in contact with the gel surface in order to actuate the gel itself. In simple terms the magnetic beads leads give rise to mechanical shear stress on the gel surface when under magnetic influence and together with the associated bead-gel displacement it is possible to calculate the hydrogel shear modulus. Agarose and Collagen gels with respectively 0.2–0.6 wt % and 0.2–0.5 wt % percent concentrations were prepared for mechanical characterization in terms of their shear modulus. The shear modulus values for the different percent concentrations of the agarose gel were obtained in the range 250–650 Pa, indicating the shear modulus increases by increasing in the agar gel concentration. In addition to this, the values of shear modulus for the collagen gel increase as function of concentration in the range 240–520 Pa in accordance with an approximately linear relationship between collagen concentration and gel strength.
Narrative review of assessing the surgical options for double outlet right ventricle

The individualized surgical approach in individuals with both arterial trunks arising from the morphologically right ventricle is dictated by the extreme morphological variability encountered in this setting, with each patient being unique. An individualized surgical approach has been designed to take account of the morphological variations, identifying the anatomy with the preoperative three-dimensional CT scan reconstruction. The key features have been considered the distance between tricuspid and pulmonary valves, the size and location of the interventricular communication, and the relationship between the outflow tracts. The surgical approach is tailored, whenever feasible, to create a connection between left ventricle and aorta, but primarily to achieve biventricular repair. Account has been taken of all available surgical options already reported in the literature, identifying the most suitable to provide the best outcomes for each unique morphology. To date, meaningful comparison between different reported surgical series has been difficult because of the marked variation of individual intracardiac morphology, and the lack of reports of specific surgical approaches for well-categorized groups of patients. Our approach, being tailored to the individual cardiac morphology, can be offered to any patient with this ventriculo-arterial connection. Given the difficulties of diagnosis, and the multiple therapeutic indications, very close collaboration between cardiologists and surgeons is indispensable for further progress in the understanding and management of this complex congenital cardiac lesion.
Myelomonocytic differentiation of leukemic blasts accompanied by differentiation syndrome in a case of FLT3-ITD-positive AML treated with gilteritinib

ABSTRACT Fms-like tyrosine kinase 3 (FLT3) is one of the most frequently mutated genes in acute myelogenous leukemia (AML) and the mutation is associated with poor prognosis of patients. Two distinct types of activating mutations have been identified in AML samples. One is internal tandem duplications in the juxtamembrane domain (FLT3-ITD) and the other is point mutations in the tyrosine kinase domain (FLT3-TKD). Gilteritinib is a FLT3 inhibitor that inhibits both FLT3-ITD and FLT3-TKD. It was reported that differentiation of leukemic blasts accompanied by differentiation syndrome occurs in some patients treated with gilteritinib. However, information about the precise clinical course is limited, and appropriate management of differentiation syndrome has not been established. We report a case of relapsed AML with FLT3-ITD that was treated with gilteritinib. Analysis of the FLT3-ITD variant allele frequency (VAF) revealed that FLT3-ITD VAF was not decreased despite achievement of complete remission with incomplete hematologic recovery. Remarkable increases of monocytes and granulocytes accompanied by differentiation syndrome were observed at 6 months after the initiation of gilteritinib treatment. Intermittent chemotherapy with low-dose cytarabine and mitoxantrone was effective for reducing myelomonocytosis and resolving differentiation syndrome.
Obtaining electron attachment cross sections by means of linear inversion of swarm parameters

We investigate electron attachment to strongly attaching gases as a function of the electron energy. The total electron attachment cross section of this electronegative sample gas is determined from the effective ionization rate constant νeff/N measured in a swarm experiment using the buffer gases N2 and CO2 with minor proportions (≲0.8%) of the sample gas SF6, and C3F8 respectively. The measured rate constants νeff/N for varying reduced electric field strengths E/N are unfolded from the electron energy distribution of the buffer gases. Different unfolding routines for so-called ill-posed problems are tested to find robust solutions for the attachment cross section. Finally, we propose Tikhonov regularization, which is a well defined algorithm for discrete linear inversion problems, as most efficient. Our method gives rise to an approximate and clearly defined solution for the attachment cross section, and it is described in detail.
PLASMA-PARTICLE HEAT TRANSFER MECHANISM FOR IN-FLIGHT MELTING OF POWDERS IN INDUCTION THERMAL PLASMAS

An innovative in-flight glass melting technology wi th thermal plasmas was developed for the purpose of en ergy conservation and environment protection. In this st udy, Modeling and experiments of argon-oxygen induction thermal plasmas have been conducted to investigate the melt ing behavior of granulated powders injected into plasma. The two dimensional LTE (Local thermodynamic equilibrium) model was performed to simulate the heat and momentum transfer between plasma and particle. Numerical analysis shows that the particle temperature is strongly affected by the fl ow rate of carrier gas and the particle size of raw material. Higher flow rate of carrier gas leads to lower particle temperature and smaller energy to particle which caused lower evaporation o f Na 2O. The incomplete melting of large particles is attributed to the lower center temperature of particles. The numerical anal ysis explains well the experimental results, which provides a val uable practical guideline for the process control in the melting process for glass industry.
Behavioral safety compliance in an interdependent mining environment: supervisor communication, procedural justice and the mediating role of coworker communication

Objectives. Although a focus on safety communication between managers and employees has been prevalent, research around coworker influence in this communication has been fragmented in the literature. Methods. To examine these issues, researchers gathered survey data from 1955 mine employees from surface stone, sand and gravel (SSG) and industrial mineral operations across the USA between 2016 and 2018, and studied the effects of relationships between justice perceptions, supervisor communication and coworker communication on behavioral safety compliance. Results. Using structural equation modeling, coworker communication partially mediated the direct effects of supervisor communication and justice perceptions on behavioral safety compliance – where the indirect effects were greater for justice perceptions. Conclusion. The results demonstrate the value in formal and informal communication paths to facilitate employee safety compliance; and that enhanced perceptions of job fairness and adaptability enhances coworker communication, further improving compliance in an interdependent environment.
Comparison of Approaches for Prediction of Renal Replacement Therapy-Free Survival in Patients with Acute Kidney Injury

Background/Aims: Acute kidney injury (AKI) in critically ill patients is common, and continuous renal replacement therapy (CRRT) is a preferred mode of renal replacement therapy (RRT) in hemodynamically unstable patients. Prediction of clinical outcomes in patients on CRRT is challenging. We utilized several approaches to predict RRT-free survival (RRTFS) in critically ill patients with AKI requiring CRRT. Methods: We used the Medical Information Mart for Intensive Care (MIMIC-III) database to identify patients ≥18 years old with AKI on CRRT, after excluding patients who had ESRD on chronic dialysis, and kidney transplantation. We defined RRTFS as patients who were discharged alive and did not require RRT ≥7 days prior to hospital discharge. We utilized all available biomedical data up to CRRT initiation. We evaluated 7 approaches, including logistic regression (LR), random forest (RF), support vector machine (SVM), adaptive boosting (AdaBoost), extreme gradient boosting (XGBoost), multilayer perceptron (MLP), and MLP with long short-term memory (MLP + LSTM). We evaluated model performance by using area under the receiver operating characteristic (AUROC) curves. Results: Out of 684 patients with AKI on CRRT, 205 (30%) patients had RRTFS. The median age of patients was 63 years and their median Simplified Acute Physiology Score (SAPS) II was 67 (interquartile range 52–84). The MLP + LSTM showed the highest AUROC (95% CI) of 0.70 (0.67–0.73), followed by MLP 0.59 (0.54–0.64), LR 0.57 (0.52–0.62), SVM 0.51 (0.46–0.56), AdaBoost 0.51 (0.46–0.55), RF 0.44 (0.39–0.48), and XGBoost 0.43 (CI 0.38–0.47). Conclusions: A MLP + LSTM model outperformed other approaches for predicting RRTFS. Performance could be further improved by incorporating other data types.
Anxiety among fathers during the prenatal and postpartum period: a meta-analysis

Abstract Introduction The purpose of this review was to determine the prevalence of anxiety among fathers during the perinatal (pre- and post-natal) period. Methods A systematic search was conducted to identify studies published between 1995–2020. One hundred and seventy-two of the records met inclusion criteria and full texts were screened for eligibility. The authors followed PRISMA guidelines to extract the data. Results A total of 23 studies, representing 40,124 participants, are included in this meta-analysis. The overall random effects estimate of paternal perinatal anxiety was 10.69% (95% confidence interval (CI): 8.14 − 13.91%). Rates of paternal perinatal anxiety demonstrated significant heterogeneity that was large in magnitude (Q = 304,494, p < .001, I2 = 99.93 and τ2 = .5381). Study quality rating did not appear to moderate rates of paternal perinatal anxiety (low: 10.74%; 95% CI: 6.56–17.11%; high: 10.65%; 95% CI: 6.02– 18.15%). Discussion Paternal perinatal anxiety rates in this meta-analysis are considerably higher than the global WHO regional prevalence rates for anxiety among men suggesting the transition into parenthood may place men at greater risk for anxiety.
Association between socioeconomic status and longitudinal sleep quality patterns mediated by depressive symptoms

Abstract Study Objectives We aimed to examine whether associations between socioeconomic status (SES) and longitudinal sleep quality patterns are mediated by depressive symptoms. Methods We utilized data on 3347 participants in the Korean Genome and Epidemiology Study aged 40–69 years at baseline from 2001 to 2002 who were followed up for 16 years. A group-based modeling approach was used to identify sleep quality trajectories using the Pittsburgh Sleep Quality Index (years 2, 6, 8, 10, and 12). Educational attainment (college graduated or less), monthly household income (≥$2500 or less), and occupation (unemployed, manual labor, and professional labor) at baseline (year 0) were used for analyses. Depressive symptoms were assessed using Beck’s Depression Inventory at year 4. Associations between SES and sleep quality patterns were examined using a multinomial logistic regression model. The mediation effect of depressive symptoms was further examined using PROC CAUSALMED. Results We identified five distinct sleep quality trajectories: “normal-stable” (n = 1697), “moderate-stable” (n = 1157), “poor-stable” (n = 320), “developing to poor” (n = 84), and “severely poor-stable” (n = 89). Overall, associations between SES levels and longitudinal sleep patterns were not apparent after full adjustment for sociodemographic and lifestyle factors measured at baseline. Depressive symptoms, however, tended to fully mediate associations between SES levels and sleep quality patterns (odds ratio range for indirect effects of depressive symptoms: for education, 1.05-1.17; for income, 1.05-1.15). Conclusion A significant mediating role for depressive symptoms between SES levels and longitudinal sleep quality warrants consideration among mental healthcare professionals.
A comprehensive review of scaffolding methods in genome assembly

In the field of genome assembly, scaffolding methods make it possible to obtain a more complete and contiguous reference genome, which is the cornerstone of genomic research. Scaffolding methods typically utilize the alignments between contigs and sequencing data (reads) to determine the orientation and order among contigs and to produce longer scaffolds, which are helpful for genomic downstream analysis. With the rapid development of high-throughput sequencing technologies, diverse types of reads have emerged over the past decade, especially in long-range sequencing, which have greatly enhanced the assembly quality of scaffolding methods. As the number of scaffolding methods increases, biology and bioinformatics researchers need to perform in-depth analyses of state-of-the-art scaffolding methods. In this article, we focus on the difficulties in scaffolding, the differences in characteristics among various kinds of reads, the methods by which current scaffolding methods address these difficulties, and future research opportunities. We hope this work will benefit the design of new scaffolding methods and the selection of appropriate scaffolding methods for specific biological studies.
Pitting corrosion of A357 aluminium alloy obtained by semisolid processing

This paper studies the pitting corrosion of a structural component of A357 aluminium alloy obtained by a semisolid metal forming process. The mechanical properties of the A357 alloy were improved by applying standard heat treatments T5 and T6. Impedance measurements were conducted at the rest potential and polarisation curves were plotted using a 3% NaCl test solution. After polarisation experiments the specimens were analysed by scanning electron microscopy. The corrosion process is favoured through the eutectic regions. The results show that T6 heat treatment improved the corrosion resistance of the A357 aluminium alloy. Lochkorrosion der durch Umformung im halbfestem Zustand erhaltenen Aluminiumlegierung A357 In der vorliegenden Arbeit wird die Lochkorrosion der Aluminiumlegierung A357 untersucht, die in tragenden Komponenten verwendet wird und durch einen Umformprozes in halbfestem Zustand erzeugt wird. Die mechanischen Eigenschaften der Legierung A357 werden durch Anwendung der standardisierten Temperaturbehandlungen T5 und T6 verbessert. Es wurden Impedanzmessungen des Ruhepotentials durchgefuhrt und die Polarisationskurven unter Verwendung einer 3%-iger NaCl-Losung bestimmt. Nach Abschlus der Polarisationsmessungen wurden die Proben mit Hilfe eines Elektronenmikroskops untersucht. Der Korrosionsprozes wird durch die eutektischen Bereiche gefordert. Die erzielten Ergebnisse deuten darauf hin, das die Korrosionsbestandigkeit der Aluminiumlegierung A357 durch die Temperaturbehandlung T6 verbessert wird.
Impact of Covid-19 pandemic on Ophthalmic Emergency Department in an Italian tertiary eye centre

Purpose: To evaluate the effects of the COVID-19 pandemic on the Ophthalmic Emergency Department (OED) activity of the tertiary eye centre of Verona. Methods: OED reports of patients visited during lockdown (COVID-period) and in the corresponding period of 2017, 2018 and 2019 (COVID-free period) have been retrieved to draw a comparison. Patients’ demographic and clinical data recorded and analysed are the following: age, gender, previous ocular history, aetiology, symptoms onset, type of symptoms, discharge diagnosis, urgency and severity of diagnosis. Results: OED consultations dropped from 20.6 ± 7.3 visits/day of the COVID-free period to 8.6 ± 4.6 visits/day of the COVID-period. In the COVID-period patients waited longer before physically going to the OED, lamented more vision loss and less redness and reported a higher percentage of traumatic events when compared to the COVID-free period. A significant reduction of ocular surface conditions occurred, while vitreo-retinal disorders increased. Overall, both urgency and severity of diagnosed diseases raised significantly in the COVID-period. Conclusion: The COVID-19 pandemic drove a significant reduction of the overall OED activity. People with less urgent and milder conditions preferred to wait and endure their ocular discomfort for a few days rather than leaving home and risking to contract the infection. Our analysis highlights how several times the OED is used improperly by patients diagnosed with non-urgent disorders. A more accurate use of the OED would allow a reduction of management costs and the avoidance of overcrowding, which can lead to delays in the care of patients that really need assistance.
Overview of stem cells therapy in amyotrophic lateral sclerosis

ABSTRACT Background: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of upper and lower motor neurons with high burden on society. Despite tremendous efforts over the last several decades, there is still no definite cure for ALS. Up to now, only two disease-modifying agents, riluzole and edaravone, are approved by U.S. Food and Drug Administration (FDA) for ALS treatment, which only modestly improves survival and disease progression. Major challenging issues to find an effective therapy are heterogeneity in the pathogenesis and genetic variability of ALS. As such, stem cell therapy has been recently a focus of both preclinical and clinical investigations of ALS. This is because stem cells have multifaceted features that can potentially target multiple pathogenic mechanisms in ALS even though its underlying mechanisms are not completely elucidated. Methods & Results: Here, we will have an overview of stem cell therapy in ALS, including their therapeutic mechanisms, the results of recent clinical trials as well as ongoing clinical trials. In addition, we will further discuss complications and limitations of stem cell therapy in ALS. Conclusion: The determination of whether stem cells offer a viable treatment strategy for ALS rests on well-designed and appropriately powered future clinical trials. Randomized, double-blinded, and sham-controlled studies would be valuable.