Miracle-dz/UniFAR-FTUs huggingface dataset:
Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect

Mucolipidosis Type IV (MLIV) is caused by a deficiency of the mucolipin cation channel encoded by Mucolipin TRP Cation Channel 1 gene (MCOLN1). It is a slowly progressive neurodevelopmental and neurodegenerative disorder causing severe psychomotor developmental delay and progressive visual impairment, which is often misdiagnosed as cerebral palsy. We describe six patients with MLIV from two Omani families with a novel c.237+5G>A mutation in the MCOLN1 gene predicted to affect mRNA splicing. Mutation screening with a high-resolution melting (HRM) assay in a large population sample did not detect this mutation in control subjects. This report highlights the importance of considering MLIV in the differential diagnosis of patients in a pediatric age group with cerebral palsy-like presentation. Although the same rare mutation was seen in two apparently unrelated families, this was not seen in the sample screened from the general population. The HRM assay provides a cost-effective assay for population screening for the c.237+5G>A mutation.
Second-Order, Single-Band and Dual-Band Bandstop Frequency Selective Surfaces at Millimeter Wave Regime

This paper presents miniaturized low-profile second-order (SO) bandstop frequency selective surfaces (FSSs) for single and dual-band resonances. The unit cell comprises two identical first-order (FO) elements in a back-to-back configuration with the metal grid in between. Two thin dielectric substrates separate the three metal layers. The proposed FO unit cell consists of intercell connected spiral resonators (SRs) with capacitively coupled cross loop dipole. The SO filter response of the proposed FSS exhibits a wide stopband (S21 <- 10 dB) bandwidth (BW) of 27.6 %. The unit cell has the periodicity of 0.162 λ0, where λ0 is the free space wavelength at the lower passband. The novelty of the proposed work is a miniaturized simple unit cell geometry, at the millimeter-wave band but not limited to it, with polarization insensitive and high angular stable filter response up to 60° with small variations in the BW. An unconventional 4-unit cell element FSS is designed for dual-band SO stopband resonances with BWs of 8.3 and 13.8 %. Prototypes of both FSSs were fabricated and their measured results were found consistent with the simulated filter responses.
In Pursuit of New Spaces for Threatened Mammals: Assessing Habitat Suitability for Kashmir Markhor (Capra falconeri cashmeriensis) in the Hindukush Range

Natural wild habitats are either destroyed or shrunk due to human interventions. Therefore, habitat evaluation is crucial for managing wildlife populations and designing robust conservation strategies. Species presence data and geographic information system (GIS) coupled with ground-breaking powerful statistical techniques have made such assessments possible. We used maximum entropy modeling (MaxEnt) to identify suitable habitats for Kashmir markhor (Capra falconeri cashmeriensis) in Malakand Division, Pakistan. MaxEnt was applied to 169 markhor sighting points and topographical and current bioclimatic variables. Results showed that the accuracy of the MaxEnt model was good (AUC = 0.889). Of the total area studied (8407.09 km2), 22.35% (1878.75 km2) was highly suitable and 32.63% (2743.53 km2) was moderately suitable for markhor. Protected areas including Chitral Gol National Park (CGNP), Tooshi-Sasha Conservancy (TSC), and Gehrait-Golain Conservancy (GGC) and their buffers were included in highly suitable habitats. MaxEnt also predicted highly suitable habitats in Kumrat and Kalam valleys. We believe that moderately suitable habitats identified in Jinjeret, Ursoon, Birir valley, and Bumborait valley have the potential to host markhor populations. Based on the results obtained in the current study, we strongly recommend expanding the current protected areas (PAs) network in the study area and strengthening it by inclusive conservation management with local communities.
A Comprehensive Literature Review on Children’s Databases for Machine Learning Applications

The COVID-19 pandemic can be attributed as a main factor to accelerate the current digital transformation and to encourage innovation and technological adoption. Consequently, the care provided to our children, one of the significant aspects of life, needs to be adapted with the life’s changes. Children are our future and our most precious resources. They need our attention in all life domains including health, education, safety and social interaction. Nowadays, technologies have been incorporated with machine learning and it has been proven that they are more powerful, reliable and profitable. Machine learning methods have been applied by many children-related studies to generate predictive models for different applications. The efficacy of the generated models mainly relies on the constructed databases. This article carries out a comprehensive survey on available children’s databases constructed for machine-learning-based solutions with their methodologies, characteristics, challenges, and applications. First, it provides an overview of the available studies and classifies them based on their applications. Next, it defines a set of attributes and evaluates them while also shedding light on their pros and cons. The primary concerns related to collection, development and distribution of children’s databases are also discussed. This study can be considered as a guideline for researchers in multidisciplinary fields to construct reliable databases and to develop more advanced techniques.
What These Findings Tell Us. Reply to Kelly et al. What Do These Findings Tell Us? Comment on “Tinella et al. Cognitive Efficiency and Fitness-to-Drive along the Lifespan: The Mediation Effect of Visuospatial Transformations. Brain Sci. 2021, 11, 1028”

The study of the contribution of spatial transformation skills to driving behavior is a research topic substantiated by scarce evidence. In previous studies, we found that mental rotation and perspective-taking skills have an influence on performance in driving tasks by conveying the distal effects of the general cognitive efficiency on the execution of driving maneuvers. Studies have provided evidence on the relevance of the cognitive processes of encoding, imagined rotation, and spatial orientation in the accuracy of both the vehicle management during stressful driving situations and the acquisition of visual information on the traffic scenario. Results can find applications in both the training and the assessment of fitness to drive, as well as in the study of interaction between the drivers and in-vehicle devices. The lack of cross-validations in path analysis models cannot be assumed, a priori, to be capitalizing on chance and as an example of bad science. The non-replicability of a study should be demonstrated before it is proclaimed. The purpose of this reply was to address the questions raised by Kelly et al. (2022)—that is, “Do these results seem replicable? ” and “How do these results advance our understanding of brain function and/or human behavior? ”—by providing additional information on the study in question.
High-Resolution Measurements of SO2, HNO3 and HCl at the Urban Environment of Athens, Greece: Levels, Variability and Gas to Particle Partitioning

High-resolution measurements of sulfur dioxide (SO2), nitric acid (HNO3), and hydrochloric acid (HCl) were conducted in Athens, Greece, from 2014 to 2016 via a wet rotating annular denuder system paired with an ion chromatograph. Decreased mean annual levels of SO2 and HNO3 (equal to 3.3 ± 4.8 μg m−3 and 0.7 ± 0.6 μg m−3, respectively) were observed relative to the past, whereas for HCl (mean of 0.4 μg m−3 ) no such comparison was possible as the past measurements are very scarce. Regional and local emission sources regulated the SO2 levels and contributed to both the December and the July maxima of 6.6 μg m−3 and 5.5 μg m−3, respectively. Similarly, the significant enhancement at noon and during the winter nighttime was due to transported SO2 and residential heating, respectively. The oxidation of NO2 by OH radicals and the heterogeneous reactions of HNO3 on sea salt seemed to drive the HNO3 and HCl formation, respectively, whereas nighttime biomass burning affected only the former by almost 50%. During summer, the sulfate anions dominated over the SO2, in contrast to the chloride and nitrate ions that prevailed during the winter and were linked to the aerosol acidity that influences their lifetime as well as their impact on ecosystems.
Advanced Composites Based on Sea Buckthorn Carotenoids for Mayonnaise Enrichment

This study aimed at the extraction and encapsulation of the carotenoids from sea buckthorn fruits and obtaining value-added mayonnaise. First, the carotenoids from sea buckthorn fruits were extracted using ultrasound-assisted extraction. Then, they were microencapsulated through complex coacervation and freeze-drying techniques using different wall material combinations. Two powders were obtained and analyzed in terms of encapsulation efficiency, total carotenoid content, antioxidant activity, stability of phytochemicals and color, morphological structure, and in vitro digestibility. All results pointed out that the carotenoid molecules were successfully encapsulated within the mixture of alginate, agar, and chitosan, with a 61.17 ± 0.89% encapsulation efficiency. To probe the functionality, the powder was added into mayonnaise in 2.5% and 5% amounts. The obtained mayonnaise samples were characterized in terms of phytochemical and antioxidant activity properties with their storage stability and texture, color, and sensory characteristics. A significant increase of total carotenoid content and antioxidant activity compared to the control sample was observed. The addition of powder also led to improved texture by increasing the firmness and adhesion. In addition, the sensory evaluation indicated an improved color and overall acceptability of the value-added mayonnaise. Thus, sea buckthorn extracts may be considered as valuable ingredients for the development of added-value food products.
Knowledge of COVID-19 and Its Relationship with Preventive Behaviors and Vaccination among Adults in Northern Thailand’s Community

(1) Background: the 2019 coronavirus disease outbreak (COVID-19) has posed a major threat to public health and had a significant impact on all areas of people’s lives. Vaccines against COVID-19 have been developed to control the disease, and an array of personal hygiene measures has been introduced. As a result, information that will support and promote vaccination among populations as well as other health measures against COVID-19 are urgently needed. The goal of this research was to look into the knowledge about COVID-19 and how it relates to preventive behaviors and vaccination among people living in rural areas of northern Thailand. (2) Methods: a cross-sectional study was performed in four upper northern provinces of Thailand. A total of 1524 participants were recruited using the probability sampling technique. Questionnaires were distributed to collect data on general health information, as well as knowledge and preventive behaviors regarding COVID-19. (3) Results: more than half (55.9%) of the participants were female and had not received the COVID-19 vaccine (67.2%). Their mean age was 44.13 years. The majority had moderate COVID-19 knowledge and engaged in preventive behaviors (65.5% and 42.0%, respectively). A linear regression model showed that the COVID-19 knowledge score was related to the COVID-19 preventive behaviors score, with a standardized coefficient of 0.510, after adjusting for age, underlying disease, and body mass index (B = 2.64; 95%CI = 2.42, 2.87). Binary logistic regression revealed that after controlling for age, education, occupation, financial status, and current disease (AOR = 1.87; 95%CI = 1.64–2.13), the score of COVID-19 knowledge was significantly associated with having the COVID-19 vaccine. (4) Discussion: knowledge of COVID-19 is very important for people in rural regions to engage in COVID-19 prevention behaviors and vaccination. Relevant government agencies and health network partners should support proactive education campaigns emphasizing the risk of contracting the disease and its severity in order to promote vaccination against COVID-19 among unvaccinated groups. These campaigns can highlight COVID-19’s positive benefit-risk balance in the short and long term and ensure public safety measures against COVID-19.
Dysregulated PI3K Signaling in B Cells of CVID Patients

The altered wiring of signaling pathways downstream of antigen receptors of T and B cells contributes to the dysregulation of the adaptive immune system, potentially causing immunodeficiency and autoimmunity. In humans, the investigation of such complex systems benefits from nature’s experiments in patients with genetically defined primary immunodeficiencies. Disturbed B-cell receptor (BCR) signaling in a subgroup of common variable immunodeficiency (CVID) patients with immune dysregulation and expanded T-bethighCD21low B cells in peripheral blood has been previously reported. Here, we investigate PI3K signaling and its targets as crucial regulators of survival, proliferation and metabolism by intracellular flow cytometry, imaging flow cytometry and RNAseq. We observed increased basal but disturbed BCR-induced PI3K signaling, especially in T-bethighCD21low B cells from CVID patients, translating into impaired activation of crucial downstream molecules and affecting proliferation, survival and the metabolic profile. In contrast to CVID, increased basal activity of PI3K in patients with a gain-of-function mutation in PIK3CD and activated PI3K delta syndrome (APDS) did not result in impaired BCR-induced AKT-mTOR-S6 phosphorylation, highlighting that signaling defects in B cells in CVID and APDS patients are fundamentally different and that assessing responses to BCR stimulation is an appropriate confirmative diagnostic test for APDS. The active PI3K signaling in vivo may render autoreactive T-bethighCD21low B cells in CVID at the same time to be more sensitive to mTOR or PI3K inhibition.
Experimental Cardiorenal Syndrome Type 3: What Is Known so Far?

Background The concept of cardiorenal syndrome (CRS) has been established more than 10 years ago. Five distinct types of CRS have been defined. In CRS type 3, acute kidney injury (AKI) induces cardiac complications such as ventricular decompensation due to arrhythmias, myocardial ischemia, or fluid retention with or without arterial hypertension. The risk of cardiovascular events in AKI has been known for many years, even long before the introduction of the CRS concept. However, epidemiological and clinical studies published in recent years increasingly emphasized CRS type 3 (and the remaining four types also) as separate entity which requires particular therapeutic attention in an interdisciplinary manner. However, only a limited number of experimental studies specifically addressed CRS type 3 so far. Our review aims to summarize experimental studies on the pathological mechanisms in CRS type 3. Methods The following search criteria were employed in order to identify articles published on the topic: “cardiorenal syndrome 3” OR “cardiorenal syndrome type 3” OR “CRS type 3” OR “CRS 3” AND “experimental” OR “mouse” OR “mice” OR “rats” OR “animals”; additional criteria were “myocardium” AND “ischemia” AND “kidney” OR “renal”. By applying the search criteria mentioned earlier, 10 references were finally selected. Results By applying the search strategy, 10 experimental studies were finally selected. All included cardiac outcome analysis in AKI animals. The data clearly provide evidence for cardiac complications that evolve independently from excretory kidney dysfunction. Pathological processes that emerge in the heart of animals subjected to renal ischemia involve inflammation, a dysbalance of redox components, pro-apoptotic processes, and mitochondrial dysfunction. Conclusion The findings may explain why AKI increases the risk of acute cardiac complications even if dialysis treatment has been initiated.
Nrf2/ARE Signaling Directly Regulates SOX9 to Potentially Alter Age-Dependent Cartilage Degeneration

Oxidative stress is implicated in osteoarthritis, and nuclear factor erythroid 2–related factor 2 (Nrf2)/antioxidant response element (ARE) pathway maintains redox homeostasis. We investigated whether Nrf2/ARE signaling controls SOX9. SOX9 expression in human C-28/I2 chondrocytes was measured by RT–qPCR after shRNA-mediated knockdown of Nrf2 or its antagonist the Kelch-like erythroid cell-derived protein with cap ‘‘n’’ collar homology-associated protein 1 (Keap1). To verify whether Nrf2 transcriptionally regulates SOX9, putative ARE-binding sites in the proximal SOX9 promoter region were inactivated, cloned into pGL3, and co-transfected with phRL–TK for dual-luciferase assays. SOX9 promoter activities without and with Nrf2-inducer methysticin were compared. Sox9 expression in articular chondrocytes was correlated to cartilage thickness and degeneration in wild-type (WT) and Nrf2-knockout mice. Nrf2-specific RNAi significantly decreased SOX9 expression, whereas Keap1-specific RNAi increased it. Putative ARE sites (ARE1, ARE2) were identified in the SOX9 promoter region. ARE2 mutagenesis significantly reduced SOX9 promoter activity, but ARE1 excision did not. Functional ARE2 site was essential for methysticin-mediated induction of SOX9 promoter activity. Young Nrf2-knockout mice revealed significantly lower Sox9-positive chondrocytes, and old Nrf2-knockout animals showed thinner cartilage and more cartilage degeneration. Our results suggest Nrf2 directly regulates SOX9 in articular cartilage, and Nrf2-loss can develop mild osteoarthritis at old age. Pharmacological Nrf2 induction may hold the potential to diminish age-dependent cartilage degeneration through improving SOX9 expression.
Genetic and Functional Differences between Duplicated Zebrafish Genes for Human SCN1A

There are currently seven different zebrafish strains that model Dravet Syndrome, a severe childhood form of epilepsy. These models are based on a set of duplicated genes, scn1laa and scn1lab, which are the homologs for human SCN1A. Disrupting one of the genes would mimic a heterozygous disease state in humans, as the paralog gene is still present. While this ‘disease-state model’ is widely accepted, there is also evidence that the function of these genes might not be completely the same. By analyzing the functional domains, we discovered several hotspots in the protein that are not conserved, indicating a functional difference. Based on this, we generated scn1Laa knockout zebrafish and compared their phenotype to scn1lab knockouts. The genetic and functional differences we discovered can have implications for the use of zebrafish as a model for Dravet Syndrome.
The anthropometric and performance characteristics of high-performance junior life savers

To date, limited research has reported the physical attributes of adult life savers, and no such data exist for junior life savers. The purpose of the present investigation was to describe the anthropometric and performance characteristics of junior high-performance life savers and identify any gender differences. Thirtythree male ((Mean ± SD) age: 13.8±1.5 yrs; stature: 164.3±9.4 cm; mass: 54.5±11.2 kg) and 30 female (age: 13.5±1.6 yrs; stature: 157.7±9.1 cm; mass: 49.5±9.6 kg) high-performance life savers had anthropometric measures taken and completed a battery of performance tests. Anthropometric measurements included stature, mass and arm span, whilst the performance measures taken were vertical jump height, 5 m and 20 m sprint times, maximal velocity, hamstring flexibility, agility, maximal aerobic capacity, and chest, back and leg strength. Unpaired t-tests revealed significant (p<0.05) gender differences for stature, arm span, vertical jump height, 20 m sprint time, hamstring flexibility, agility, maximal aerobic capacity and back and leg strength. The present results provide normal values for junior high-performance life savers and indicate that male competitors are physically advanced at this level.
Design for [every]one

“Design for [every]one” is an ergonomic design process appropriate for the assistive technology sector. User centered techniques are applied for an incremental personalization process involving design team members, patients and occupational therapists. By implementing active engagement with user experience prototypes and observational techniques, it is possible to reduce the stigmatization and augment the product affinity between patient and assistive tool. Basically, this approach works in two ways , personalized assistive products are fitted to the users and users become fitted to their products. In this paper we will sketch the framework of this design type and discuss some tools to gather and validate information during various phases of the iterative design process.
The Evolution of Molecular Recognition: From Antibodies to Molecularly Imprinted Polymers (MIPs) as Artificial Counterpart

Molecular recognition is a useful property shared by various molecules, such as antibodies, aptamers and molecularly imprinted polymers (MIPs). It allows these molecules to be potentially involved in many applications including biological and pharmaceutical research, diagnostics, theranostics, therapy and drug delivery. Antibodies, naturally produced by plasma cells, have been exploited for this purpose, but they present noticeable drawbacks, above all production cost and time. Therefore, several research studies for similar applications have been carried out about MIPs and the main studies are reported in this review. MIPs, indeed, are more versatile and cost-effective than conventional antibodies, but the lack of toxicity studies and their scarce use for practical applications, make it that further investigations on this kind of molecules need to be conducted.
Application Effect of Intra-Abdominal Pressure Monitoring System in Early Enteral Nutrition Nursing of ICU Patients

In order to study and explore the application effect of intra-abdominal pressure monitoring in guiding ICU patients to implement early enteral nutrition therapy, we selected patients admitted to the emergency department of a hospital and classified them into groups A (n = 105) and B (n = 98). Among them, the A group gave early enteral nutrition treatment by monitoring the residual gastric mass, and the B group gave early enteral nutrition treatment by monitoring the stomach. It has been established that, compared to gastric residue monitoring, intra-abdominal pressure monitoring in ICU patients with early enteral nutrition therapy has an obvious advantage, it helps to improve the prognosis of patients, and intra-abdominal pressure combined with gastric residual monitoring scheme can effectively reduce the early enteral nutrition in the ICU patients, the incidence of abdominal distension, vomiting, and make it reach the goal as soon as possible. Early enteral nutrition in patients with increased tolerance is of great significance.
Variable Viscosity and Chemical Reaction Effects on MHD Flow of Radiative Fluid Past a Stretching Sheet in the Presence of Joule Heating

The focus of the present study is to examine chemical reaction and Joule heating effects on steady flow of a viscous radiating fluid in a porous medium under the influence of variable viscosity. The fluid viscosity is assumed to vary exponentially with temperature. The governing equations of ow, heat and mass transfer are transformed into ordinary differential equations using appropriate similarity transformations. The converted ordinary differential equations are then solved numerically by using fourth order Runge-Kutta Fehlberg method. The effects of different pertinent parameters on the flow, heat and mass transfer characteristic are analyzed and discussed in detail through graphs and table. It is observed that larger values of variable viscosity parameter depreciates the fluid velocity.