Miracle-dz/UniFAR-FTUs huggingface dataset:
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life

Background: Glycogen storage disease type 5 (GSD) is an autosomal recessive inherited metabolic myopathy caused by a deficiency of the enzyme muscle glycogen phosphorylase. Individuals with GSD5 experience physical activity intolerance. Objective: This patient-led study aimed to capture the daily life experiences of GSD5, with a focus on adapting to and coping with their physical activity intolerance. Methods: An online survey was composed in close collaboration with patient organizations. It consisted of customized and validated questionnaires on demographics, general health and comorbidities, physical activity, psychosocial well-being and functioning, pain, fatigue and adapting to and coping with GSD5. Results: One hundred sixty-two participants (16 countries) participated. The majority, n = 86 (69%) were from the Netherlands, USA or UK. We observed a high rate of misdiagnosis prior to GSD5 diagnosis (49%), surprisingly a relatively high proportion had not been diagnosed by DNA testing which is the gold standard. Being diagnosed had a strong impact on emotional status, daily life activities and important life choices. A large proportion had not received any rehabilitation (41%) nor medical treatment (57%) before diagnosis. Engagement in vigorous and moderate physical activity was reduced. Health related quality of life was low, most likely related to low physical health. The median Fatigue Severity Score was 4.3, indicating moderate to severe fatigue. Participants themselves had found various ways to adapt to and cope with their disability. The adaptations concerned all aspect of their life, including household chores, social and physical activities, and work. In addition to lack of support, participants reported limited availability of information sources. Conclusion: Participants have provided guidance for newly diagnosed people, including the advice to accept one’s limited abilities and maintain an active lifestyle. We conclude that adequate counseling on ways of adapting and coping is expected to increase both health-related quality of life and physical activity.
Toxicity and in vitro antioxidant potential of Curcuma longa Linn and Zingiber officinale Rosc rhizomes in Drosophila melanogaster

Medicinal plants like Curcuma longa and Zingiber officinale contain phytochemicals which have antioxidant properties. The study evaluated the antioxidant effect of Curcuma longa and Zingiber officinale on the survival of Drosophila melanogaster administered isoniazid. Drosophila melanogaster aged 3-5 days old were exposed to different concentrations (5-1000 mg/ 5 g diet) of isoniazid, and extract for 7 days to determine the lethal concentration (LC50). A 14-day survival assay was performed to evaluate the effect of isoniazid and the herbal extract on the survival rate of Drosophila melanogaster. The antioxidant activity of the herbal extract on the stable 2,2- diphenyl-1- picrylhydrazyl (DPPH) was also evaluated. The result showed an antioxidant activity greater than that of a standard, silymarin. An increase in survival rate of the fruit flies was observed at the lowest dose of the extract, when compared to those fed diet only. In conclusion, this study provided valuable insights into the antioxidant properties of the herbal extract, highlighting its potential benefits, while further research to elucidate the effects of phytochemicals especially at high doses is necessary. The results also underscore the importance of considering various factors in toxicity assessments as they affect fly survival.
Changing Growth and Maturity in Western Alaskan Chinook Salmon, Oncorhynchus tshawytscha, Brood Years 1975–2005

Recent poor returns of Chinook salmon to the Yukon-Kuskokwim delta area of western Alaska have coincided with a trend toward decreasing size and age of adults. However, the degree to which changing size is caused by size-selective harvest or variation in growing conditions is unknown. In this study, we investigated changing growth and maturity in the females of two populations of western Alaskan Chinook salmon, the Andreafsky River (Yukon River drainage) and the Kogrukluk River (Kuskokwim River drainage) using scales collected over 31 brood years (1975–2005). The second year of marine growth (SW2) best predicted maturity in female Chinook salmon, with individuals showing greater SW2 growth more likely to mature earlier. Annual variation in average SW2 growth was associated with the Western Pacifi c Index, consistent with the western distribution of these Chinook salmon stocks during their second year of marine life; however, over half of the variation in mean SW2 growth was left unexplained by our environmental models. Temporal trends were the strongest for freshwater growth. We hypothesize that this may be partly explained by declining size of adult female salmon through negative eff ects on egg size and size of emergent fry.
Team Identification and Perceptions of College Athletes

College campuses are unique spaces, with college towns having their own distinctive culture. However, attendance at intercollegiate athletic events has declined in recent years. Long-term strategies for building faculty fanbases are uncommon, yet, faculty maintain high organizational identification, positively impacting brand loyalty and purchase intentions. As such, university faculty may be an ideal target market for athletic departments through relationship marketing. Utilizing Allport’s (1954) Intergroup Contact Theory, this study examined faculty motivation to attend university athletic events regarding their university identification, perception of college athletes, and motivation for sport consumption. Two hundred and thirty-eight faculty members at Power Five institutions completed the Motivation Scale for Sport Consumption, the Points of Attachment Index, and the Perceptions of Athletic Departments Questionnaire. Descriptive statistics suggested that faculty are motivated differently than other fans, as the physical skills of athletes served as the strongest motivator for faculty. The multiple regression analysis provided evidence to conclude higher levels of both faculty university athletic team identification and their perceptions of student-athletes contributed to increased athletic event motivation scores. Based on the results, in order to increase faculty motivation to attend athletic events, marketers should consider designing innovative marketing efforts specifically for faculty members and utilizing marketing techniques to increase faculty’s perceptions of college athletes.
Clinical and Ultrasonographic Characteristics of the Achilles Tendon in Hemodialysis Patients

Background and Objectives: The early recognition of tendon alterations in chronic hemodialysis (HD) patients, an awareness of the factors that influence the condition, and active intervention have considerable clinical relevance. The aim of this study was to investigate the musculoskeletal ultrasound (MSUS) features of the Achilles tendon in chronic HD patients and determine the factors associated with tendon abnormalities. Materials and Methods: This study was conducted on 46 HD patients and 24 sex- and age-matched controls. All participants were evaluated clinically for any signs of Achilles tendon abnormalities. Then, the Achilles tendon was scanned bilaterally using MSUS. Results: Among the 92 Achilles tendons in the HD patients, there was tenderness and swelling of only two (2.2%). Regarding MSUS features, there were statistically significant higher thicknesses in the proximal end (p < 0.001), midpoint (p < 0.001), and distal end (p < 0.001) of the Achilles tendons in the HD patients when compared with the healthy controls. Tendinosis was found in 12 (13%) of the HD patients’ Achilles tendons, which was statistically significant in comparison to the healthy controls (p = 0.008). There were statistically significant higher scores of structural abnormalities (p = 0.005), bone erosions (p = 0.017), and calcifications (p = 0.015) in the HD patients when compared to the healthy controls. According to the results of a univariate regression analysis, age and male gender were predictive for US abnormalities in HD patients (p = 0.002 and 0.025, respectively). Conclusions: The Achilles tendon in subjects on chronic HD showed frequent US abnormalities. These abnormalities in HD patients appear to be more related to age and gender and may be asymptomatic.
Slot-Waveguide Based All-Optical RF Spectrum Analyzer

All-optical radio-frequency spectrum analyzers (AORFSAs) with ultrabroad bandwidth break the electronic bottleneck and provide an efficient frequency analysis means for ultrafast optical signals in communications, signal generation and processing systems. Here, we propose and experimentally demonstrate an AORFSA built on the cross-phase modulation effect in a 50 cm long CMOS-compatible photonic slot-waveguide. The waveguide has a 100 nm thick thin-film core of fused silica that is sandwiched by two 750 nm thick cladding layers of high-index doped silica, which shows optimized dispersion and comparable nonlinear characteristics. The measured 3 dB bandwidth of the proposed slot-waveguide-based AORFSA has a three-fold increase over the conventional channel waveguide having the same dimension and length. The sensitivity and wavelength- and polarization-dependence properties are investigated, confirming the proposed waveguide as a versatile platform for frequency analysis of ultrafast optical signals, such as Kerr microcombs with hundreds of GHz or even THz mode spacing.
Effect of Nalbuphine versus Fentanyl on Haemodynamic Response to Laryngoscopy and Intubation - A Randomised Study

Background: Endotracheal intubation and laryngoscopy, provides intense noxious stimuli via vagal and glossopharyngeal afferents that results in reex autonomic activation. Many drugs like alpha agonists, vasodilators, lignocaine, induction agents and opioids has been used to attenuate presser response but each drug has its own limitation. Fentanyl and nalbuphine are most commonly used as a premedication. Our aim is to compare the effects of these drugs in attenuating the hemodynamic response to endotracheal intubation in surgeries under general anaesthesia to help the selection of a better drug. In our study we found that, both the drugs have comparable effec Results: t on attenuation of heart rate and SBP during intubation response whereas by comparing mean of DBP of both the groups, we can conclude that Nalbuphine attenuates rise in DBP better compared to Fentanyl. But we found that Fentanyl attenuates change in MAP better compared to Nalbuphine. Nalbuphine caused signicant sedation compared to Fentanyl but the sedation did not compromise airway or GCS. The incidence of post-operative nausea was signicantly low in nalbuphine group compared to fentanyl group whereas incidence of vomiting was not statistically signicant. Conclusion: Nalbuphine and Fentanyl are equally efcacious in attenuating the intubation response to laryngoscopy and intubation. Both drugs provide comparable haemodynamic stability during intraoperative period. Nalbuphine causes slightly higher incidence of sedation comparable to Fentanyl but not associated with increased incidence of life-threatening side effects. Both drugs have comparable incidence of post-operative vomiting. Nalbuphine is easily available at a lower cost compared to fentanyl. Hence, we conclude that Nalbuphine is an equally efcacious alternative for Fentanyl as premedication in attenuation of haemodynamic responses for laryngoscopy and intubation.
Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings

Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy number variants (CNVs) in coding exonic regions of the genome in a single test, and this dual analysis is a valuable approach, especially in limited resource settings. Single-nucleotide variants are well studied; however, the incorporation of copy number variant analysis tools into variant calling pipelines has not been implemented yet as a routine diagnostic test, and chromosomal microarray is still more widely used to detect copy number variants. Research shows that combined single and copy number variant analysis can lead to a diagnostic yield of up to 58%, increasing the yield with as much as 18% from the single-nucleotide variant only pipeline. Importantly, this is achieved with the consideration of computational costs only, without incurring any additional sequencing costs. This mini review provides an overview of copy number variant analysis from exome data and what the current recommendations are for this type of analysis. We also present an overview on rare monogenic disease research standard practices in resource-limited settings. We present evidence that integrating copy number variant detection tools into a standard exome sequencing analysis pipeline improves diagnostic yield and should be considered a significantly beneficial addition, with relatively low-cost implications. Routine implementation in underrepresented populations and limited resource settings will promote generation and sharing of CNV datasets and provide momentum to build core centers for this niche within genomic medicine.
The absolute chronology of Late Tripolye sites: a regional approach

Diachenko A. , Harper T. K. 2016. The absolute chronology of Late Tripolye sites: a regional approach. Sprawozdania Archeologiczne 68, 81-105. While numerous studies have attempted to reconcile the relative sequence of Late Tripolye sites with 14 C data, results have generally conformed to the general, monolithic periodization of the Cucuteni-Tripolye cultural complex. When viewed as a multi-linear process occurring on the level of numerous interrelated regions, the development of local groups assigned to the periods CI, CI-II and CII can be shown to have a high degree of spatio-temporal variability and overlap. In this article we explore the synchronicity of interactions between groups assigned to different typo-chronological periods and propose a revised hybrid chronology for Late Tripolye development that considers both relative and absolute chronological indicators.
KRAS and BRAF Mutation Rates and Survival Outcomes in Colorectal Cancer in an Ethnically Diverse Patient Cohort

KRAS and BRAF mutation rates in colorectal cancer (CRC) reported from various mono-ethnic studies vary amongst different ethnic groups. However, these differences in mutation rates may not be statistically significant or may be due to differences in environmental and/or laboratory factors across countries rather than racial genetic differences. Here, we compare the KRAS/BRAF mutation rates and survival outcomes in CRC between ethnic groups at a single institution. We also investigate the contributions of genetic, environmental, and laboratory factors to the variations in KRAS/BRAF mutation rates reported from different countries. Clinicopathological data from 453 ethnically diverse patients with CRC were retrospectively analyzed at Liverpool Hospital, NSW Australia (2014–2016). KRAS/BRAF mutations were detected using real-time PCR (Therascreen kits from Qiagen). Mismatch repair (MMR) status was determined using immunohistochemical staining. Four ethnic groups were analyzed: Caucasian, Middle Eastern, Asian, and South American. Overall survival data were available for 406 patients. There was no significant difference in KRAS mutation rates between Caucasians (41.1%), Middle Easterners (47.9%), Asians (44.8%), and South Americans (25%) (p = 0.34). BRAF mutation rates differed significantly between races (p = 0.025), with Caucasians having the highest rates (13.5%) and Middle Easterners the lowest (0%). A secondary analysis in which Caucasians were divided into three subgroups showed that ethnic grouping correlated significantly with KRAS mutation rate (p = 0.009), with central and eastern Europeans having the highest rates (58.3%). There were no significant differences in overall survival (OS) or disease-free survival (DFS) between the four races. The similarity in KRAS mutation rates across races raises the possibility that the differences in KRAS mutation rates reported from various countries may either not be statistically significant or may be due to environmental and/or laboratory factors rather than underlying racial genetic differences. In contrast, we verified that BRAF mutation rates differ significantly between races, suggesting racial genetic differences may be responsible for the discrepant BRAF mutation rates reported from different countries.
Greatest Risk Factor for Death from COVID-19: Older Age, Chronic Disease Burden, or Place of Residence? Descriptive Analysis of Population-Level Canadian Data

During the first wave of COVID-19, three-quarters of Canadian deaths were among those age 80 and older. We examined whether age, chronic disease load, sex, or place was the strongest predictor of such deaths. A cross-sectional analysis of administrative data from 1 January 2020 to 30 October 2020 for the population of Ontario (n = 15,023,174) was performed. Using logistic regression analysis, we determined whether place of residence (community dwelling, community dwelling with formal home care, or long-term care facility), age group, sex, or chronic disease burden was most strongly associated with the outcome of death within 60 days of a positive SARS-CoV-2 PCR test. Overall, there were 2766 deaths attributed to COVID-19. The age-related odds of dying increased from 6.1 (age 65–74) to 13.4 (age 85 or older) relative to those aged <65 years. This age effect was dwarfed by an odds ratio of 117.1 for those living in long-term care versus independently in the community, adjusted for age, sex, and chronic disease burden. The risk of death from COVID-19 aligned much more with social realities than individual risks. The disproportionate mortality arising specifically from institutional residence demands action to identify sources and ameliorate the harms of living in such facilities.
Thermal hydraulic performance of a wavy fin having two row of circular tubes

espanolEste trabajo trata sobre la caracterizacion termica e hidraulica de un intercambiador de calor compacto con dos filas de tubos circulares y aletas onduladas rectangulares. Las dimensiones de los tubos y las aletas son similares a las usadas en el area de la climatizacion y la refrigeracion. Se utilizo un abordaje numerico y el dominio computacional implementado se completo con condiciones de contorno de tipos simetrica y periodica. El dominio fue extendido en ambas direcciones del flujo para aumentar la precision de los resultados. El procedimiento numerico y el modelo implementado fueron validados frente a valores publicados en la literatura con los cuales se obtuvo un buen ajuste. La incidencia del flujo sobre la superficie de la aleta fue encontrada responsable por las diferencias encontradas entre el comportamiento de ambos lados de la aleta. Las diferencias encontradas desaparecen cuando se considera el calor total transferido por la aleta. EnglishThis paper is about the thermal and hydraulic characterization of a compact heat exchanger having two row of tubes and rectangular wavy fins. The dimension of the tubes and the fin are similar to the used in the air conditioning and refrigeration area. A numerical approach was used and the computational domain was implemented using symmetry and periodic condition. Were considered extended inlet and outlet section for accuracy. The numerical procedure ant its model were certified against published literature and a good match was found. The impinging flow on the fin surface was found responsible for the differences between the heat transferred at every side of the fin. The differences disappearing when the average value was calculated
A Methodology for Quantifying the Spatial Distribution and Social Equity of Urban Green and Blue Spaces

Urban green and blue space (UGBS) contribute to a variety of nature-based values and human health benefits. As such, they play a critical role for the quality of life and sustainability in cities. Here, we use the metropolitan area of Geneva, Switzerland, as a case study to illustrate that UGBS are heterogeneous in spatial characteristics, such as surface area, naturality, or noise levels, which are associated with key cultural ecosystems services. For each characteristic, we defined a threshold with the realization of an associated cultural ecosystem service, including a novel noise threshold (LAeq < 45 dB) compatible with the notion of “quiet”. We then used geospatial information to generate place-based and people-based indicators that collectively describe the variation in key dimensions of UGBS. We found that, in Geneva, the typical (median) resident has access to 4.7 ha of UGBS, and 89% of residents live within 300 m of the nearest UGBS. Accessible surfaces of UGBS per capita, however, were highly variable by type of UGBS and across neighbourhoods. For example, residents from precarious neighbourhoods are less likely to live within 300 m of quiet UGBS than residents of privileged neighbourhoods, and when they do, these UGBS tend to be smaller. The proposed methodology categorizes UGBS in a manner that both captures their distinct social roles and highlights potential social injustice issues.
Physical and sensorial quality of yellow caturra coffee after a carbonic maceration process

High prices for differentiated coffees with unique flavor profiles have spurred research into processing methods to standardize coffee production and improve quality. Fermentation is a biotechnological tool that may enhance the sensory profile of coffee and boost its overall quality. Carbonic maceration, which uses constant pressure CO 2 , can be used as a technique to differentiate coffees. In this study, the physical and sensorial qualities of Coffea arabica (yellow caturra variety) beans, following carbonic maceration, were assessed. The experiment was carried out during the harvest 2021/22 at La Joya farm. Data were analyzed for both the physical quality of the green coffee beans and the cup quality (sensorial) based on the fermentation process and duration using ANOVA, Friedman and U Mann-Whitney tests, with a significance level of alpha = 0.05. All analyses were conducted using SPSS software version 25. The final score was influenced by both carbonic maceration and the duration of fermentation, with scores for zero-day compositions being lower than those for 5, 10 and 15 days. A significant difference in primary defects, based on the duration of fermentation, was observed. In conclusion, carbonic maceration improved both coffee qualities at day 5 compared to day zero (natural process). However, the physical quality is negatively affected after 10 and 15 days, while the sensory quality increases respectively.
Seeds in Symphony: Unveiling Varietal Diversity with Hybrid Feature Classification

: In the agricultural realm, the classification of seed varieties plays a pivotal role in enhancing crop management and fostering agricultural sustainability. Traditional methods of seed classification are often time - consuming and labor - intensive. This paper proposes a hybrid feature classification approach to unveil varietal diversity in seeds more efficiently which combines the power of computer vision and machine learning techniques. We first extract a set of visual features from seed images using state - of - the - art computer vision algorithms. These features capture various characteristics such as shape, color, and texture, which can help differentiate different seed varieties. This abstract invites readers to delve into the world of seed varietal classification, where the harmony of hybrid features orchestrates a symphony of insight into the rich diversity of agricultural seeds. "Seeds in Symphony" stands as a testament to the potential of hybrid feature classification in advancing precision agriculture and contributing to the sustainable future of crop cultivation.