Miracle-dz/UniFAR-FTUs huggingface dataset:
The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort

This retrospective study examines the clinical characteristics and underlying genetic variants that exist in a Leber congenital amaurosis (LCA) patient cohort evaluated at the inherited retinal disease (IRD) clinic at the University of Minnesota (UMN)/M Health System. Our LCA cohort consisted of 33 non-syndromic patients and one patient with Joubert syndrome. We report their relevant history, clinical findings, and genetic testing results. We monitored disease presentation utilizing ocular coherence tomography (OCT) and fundus autofluorescence (FAF). Electroretinogram testing (ERG) was performed in patients when clinically indicated. Next-generation sequencing (NGS) and genetic counseling was offered to all evaluated patients. Advanced photoreceptor loss was noted in 85.7% of the subjects. All patients who underwent FAF had findings of either a ring of macular hypo/hyper AF or peripheral hypo-AF. All patients had abnormal ERG findings. A diagnostic genetic test result was identified in 74.2% of the patients via NGS single-gene testing or panel testing. Two patients in our cohort qualified for Luxturna® and both received treatment at the time of this study. These data will help IRD specialists to understand the genetic variants and clinical presentations that characterize our patient population in the Midwest region of the United States.
Perraultite, a new hydrous Na-K-Ba-Mn-Ti-Nb silicate species from Mont Saint-Hilaire, Quebec

Perraultite is a new mineral species from the De-mix quarry, Mont Saint-Hilaire, Quebec. It occurs as small prismatic crystals up to 0.5 mm in pegmatite dikes in nepheline syenite, associated with kupletskite, catapleiite, microcline, albite, aegirine, rhodochrosite, natrolite, tetranatrolite, lorenzenite, polylithionite, ancylite, fluorite, calcite and pyrochlore. The mineral is orange brown with a pale brown streak, vitreous, slightly waxy, opaque to translucent, transparent in small fragments, very brittle, and nonfluorescent in ultraviolet light. Cleavage {@t} very good; fracture uneven to irregular. Mohs hardness about 4; D(meas.) 3.71(5), D(calc.) 3.808 g/cm3. The mineral is not affected by HCl, H2SOa and HNO3. Optically biaxial (-), a 1.785(2), p l.8l(l), y 1.82(l) O 589 nm), 2V(meas.) 66(l)', 2V(calc.) 64o, strong dispersion, r<< v. Orientation: X = b,Y lta : 19' in the obtuse B angle. Pleochroism pronounced: Z = darkbrown, X = Y = light yellow. Perraultite is monoclinic, Q2/m, Cm or C2, a 10.820(2), b t3.843(4), c 20.93(t) A, B SS.W(Z)", Z = S. An I2/m subcell with a' = tha, b' : t/zb, c' = c and g' = B is very pronounced. Crystals are prismatic and flattened on {010}, with elongation along [100], bound by {001}, {010}, {10'C} and a {&0/} form, possibly {T0t}. "Swallow-tai1" contact twins are common, with {@l} as twin plane and composition plane, The strpngest seven Xray powder-diffraction lines [d in 4141nU11 are r0.43(42)(002), 3.573( I I X02s), 3.474( I 00)(006), 3.r86(rs)(224), 2.867(r3)(24r), 2.606(40)(008), 2.084(15X00.10). Electron-microprobe analyses gave: SiO2 n 32, AJ2A3 0.03, MnO 31.14, FeO 1.12, MgO 0.06, TiO2 9.44, M2O5 13.35, ZrO20.l2, BaO 8.88, K2O 2.68, Na2O 3.52, F 0.84, H2O (by TGA) 3.49, -O=F 0.35, total 101.64 wt. 90, corresponding to Na2.s2K1. o6Ba1.q2(Mnr.r: Fq.27Mg6.6)(ti2.6Nb1./rs.e)(Sis.0lAb.or)O32.00[(OH)s.oz F0.is(H2O)o.60l"t.oo. The tentative ideal formula is Na2KBaMn6@,Nb)4Si8O32(OH,F,H2O)? TGA showed a two-stage weight loss with a break at 450'C. The infraredabsorption spectrum confirms the presence of H2O and OH. The name honors Professor Guy Perrault.
The Influence of User Involvement and Personal Innovativeness on User Behavior

remained an important theme for both the academic and practitioner Information Systems Communities. In this paper we examine relevant user behaviors in the phase after adoption and investigate two factors that are expected to influence such behaviors, namely User Involvement (UI) and Personal Innovativeness in IT (PIIT). We conduct a field study to examine how these factors influence post-adoption behavior and how they are interrelated. Building on theoretical premises and prior empirical findings, we propose and test two alternative models of the relationship between these factors. Our results reveal that the best explanation of post-adoption behavior is provided by the model where UI and PIIT independently influence post-adoption behavior. Our findings have important implications for research and practice. To that end, we offer directions for future research.
Interactions between common bottlenose dolphins (Tursiops truncatus) and the artisanal fishery in Asinara Island National Park (Sardinia): assessment of catch damage and economic loss

In 1999, the Italian Central Institute for Applied Marine Research (ICRAM), in response to reports made by local fisheries, began a study into the interactions between common bottlenose dolphins (Tursiops truncatus) and the artisanal fishery in the Asinara Island National Park (Sardinia). Using onboard observers, fishing boat surveys were carried out to determine the frequency of interactions, variations in the catch of target species and damage to two different types of trammel net caused by dolphins. Interactions occurred primarily with trammel nets targetting striped red mullet (Mullus surmuletus; the less valuable peacock wrasse, Simphodus tinca, was also caught). Interactions also occurred with trammel nets set for lobster (Palinurus elephas), cuttlefish (Sepia spp.) and scorpionfish (Scorpaena spp.), but these were considered negligible. The target species, catch and damage inflicted on the catch was recorded, both in the presence and absence of dolphins, in an effort to ascertain associated damage and economic cost. Loss of catch was found to be significant only in the case of nets deployed during the red striped mullet fishing season. Although the level of interaction was high relative to the narrow red striped mullet fishery season, the overall economic impact on the fishing community was found to be modest. The presence and regulations of the national park area may provide an opportunity for investigating mitigation activities compatible with both cetacean conservation and the maintenance of the traditional fisheries.
Advancements in Revascularization Strategies for Acute Mesenteric Ischemia: A Comprehensive Review

Even with modern advancements in the management of acute mesenteric ischemia over the past decade, morbidity and mortality remain high, and the best primary treatment modality is still debated amongst interventionalists. Traditionally, interventionalists have favored an open surgical approach but are now trending for endovascular interventions due to apparent reduced mortality and complications. Newer studies suggest hybrid approaches, and intestinal stroke centers may be superior to either strategy alone. This narrative review will explore the natural history of acute mesenteric ischemia with the aim of increasing interventionalist awareness of modern advancements in revascularization strategies for this devastating disease.
Impact of COVID-19-Related Personal Protective Equipment Changes on Dental Education: A Qualitative Study to Explore Faculty and Student Perspective

Background COVID-19 pandemic and its related personal protective equipment have impacted all aspects of dental education. The qualitative study assesses the impact of COVID-19-related changes and their effects on students' clinical learning from student and faculty perspectives. Methods This qualitative study involved third- and fourth-year predoctoral dental students and full-time dental clinical faculty. A semistructured interview guide was used. The interview guide consisted of seven open-ended questions about the impact of the new COVID-19-related infection control procedures on students' learning experience in the dental clinic. Interviews were recorded, transcribed verbatim, and analyzed using a basic interpretative approach by two independent researchers. Emerged themes were identified. Results Twelve faculty members and 21 students participated in six focus groups. Three major themes emerged from the analysis: learning challenges, learning opportunities, and long-term impact. Students identified four categories of learning challenges: communication, visualization, clinical exposure, and heat. Five learning challenges identified by faculty were: faculty burnout, service delivery challenges, material wastage, teaching difficulties, and lack of comprehensive care. The five learning opportunities students identified were autonomy, preparedness, efficiency, safety, and personalized feedback. Learning opportunities identified by faculty were time management, autonomy, and preparedness. Three categories of long-term impact on students identified were future opportunities, adaptation, and postgraduation plans. Faculty identified apathy, career re-evaluation, and adaption as the long-term impact of COVID-19-related changes. Conclusion Although the new COVID-19-related infection control procedures and regulations in the dental school clinical setting come with learning challenges, students and faculty also saw learning opportunities through increased autonomy, preparedness, and efficiency. The impact of COVID-19 extends beyond the current learning experiences as it may modify students' long-term plans.
Integrative Analysis of Oleosin Genes Provides Insights into Lineage-Specific Family Evolution in Brassicales

Oleosins (OLEs) are a class of small but abundant structural proteins that play essential roles in the formation and stabilization of lipid droplets (LDs) in seeds of oil crops. Despite the proposal of five oleosin clades (i.e., U, SL, SH, T, and M) in angiosperms, their evolution in eudicots has not been well-established. In this study, we employed Brassicales, an economically important order of flowering plants possessing the lineage-specific T clade, as an example to address this issue. Three to 10 members were identified from 10 species representing eight plant families, which include Caricaceae, Moringaceae, Akaniaceae, Capparaceae, and Cleomaceae. Evolutionary and reciprocal best hit-based homologous analyses assigned 98 oleosin genes into six clades (i.e., U, SL, SH, M, N, and T) and nine orthogroups (i.e., U1, U2, SL, SH1, SH2, SH3, M, N, and T). The newly identified N clade represents an ancient group that has already appeared in the basal angiosperm Amborella trichopoda, which are constitutively expressed in the tree fruit crop Carica papaya, including pulp and seeds of the fruit. Moreover, similar to Clade N, the previously defined M clade is actually not Lauraceae-specific but an ancient and widely distributed group that diverged before the radiation of angiosperm. Compared with A. trichopoda, lineage-specific expansion of the family in Brassicales was largely contributed by recent whole-genome duplications (WGDs) as well as the ancient γ event shared by all core eudicots. In contrast to the flower-preferential expression of Clade T, transcript profiling revealed an apparent seed/embryo/endosperm-predominant expression pattern of most oleosin genes in Arabidopsis thaliana and C. papaya. Moreover, the structure and expression divergence of paralogous pairs was frequently observed, and a good example is the lineage-specific gain of an intron. These findings provide insights into lineage-specific family evolution in Brassicales, which facilitates further functional studies in nonmodel plants such as C. papaya.
A comparison of address geocoding techniques – case study of the city of Zagreb, Croatia

In the last years a lot of online geocoding services have become available online. Some of them are based on VGI as input data. Such services are very useful in the case of big amounts of objects that need to be geocoded. However, the quality of such services has still not been adequately explored. In this paper we tried to answer several questions regarding the quality of online geocoding services using the city of Zagreb in Croatia as a research area. The results of research showed that the currently available services need improvements to provide accurate sources for geocoding.
Towards the implementation of ecosystem management: a multi-level assessment of a small scale Mediterranean multi-specific fishery

Fisheries are complex systems, in which the process of assessment and management should explicitly consider the ecological, social and economic attributes of the system. For a responsible and sustainable management of marine resources and their interaction with the fishing activity, both, managers and scientists, are necessary. The multidimensional view of the Ecosystem Approach to Fisheries Management (EAFM:) provides the most suitable context for managing small-scale fisheries, promoting-the participation of all members of society linked to the fishing activity, as co-management is a key factor in their development. In Catalonia, the fishermen guild of the port of Palam6s is one of the most important in the region of Baix Emporda and holds ample historical record of local fishing activity information. This PhD dissertation applies the information from the fishermen guild of the port of Palam6s, through a vision of EAFM:, considering fisheries as a socio-economic unit (systemic approach), but also as different ecosystem components representing different levels of the hierarchy on the biological organization (communities and individual species). From a systemic context, the use of the Living Planet Index (LPI) is proposed to describe the fishe:r:y dynamics in order to assess the performance of the fishery targeted by the fishermen guild of Palam6s, analyzing simultaneously the degree of compliance with the objectives of the Aichi Biodiversity Targets. The LPI index is suitable for multi-specific fisheries using different fishing strategies as the small­scale fisheries of the Palam6s port. At the level of the biological communities and through a network approach, potential management units were identified based on the analysis of by-catch, thus incorporating non-target species. According to the characteristics of each module, at least some of these could be considered management units not evident using a different approach. Finally, the effects of SSF were evaluated on a commercial interest species, Pagellus erythrinus. In that sense, it has been re-evaluated the reproductive cycle by means of an histological approach, various population parameters were estimated and the vulnerability of this species in relation to the activities of SSF was evaluated, in an attempt to show a practical application of the third hierarchical management level, that must be considered in an ecosystem approach to fisheries on the biological strategy of the species, since species individually, respond differently to different types of fishing pressure and any management carried out considering all the species as a whole, would probably fail.
Continuance Intention of Mobile Banking Applications in Indonesia: Integrated TAM-Delone and Mclean Model

This study attempts to explain the continuance intention of mobile banking applications using the integrated technology acceptance model (TAM) and Delone and Mclean's information systems success model. A total of 258 responses were collected from mobile banking users in Indonesia. PLS-SEM was used to analyze the data and test the proposed hypotheses. The results showed that perceived ease of use has a significant influence on perceived usefulness but not satisfaction. Perceived usefulness, system quality, and service quality positively influence satisfaction, but perceived security and information quality are not significant determinants of satisfaction. This study confirmed the positive effects of perceived usefulness and satisfaction toward the continued intention to use mobile banking apps. This study is one of the first to integrate two popular information system theories, specifically TAM and Delone's and Mclean's IS success models, to explain the post-adoption behavior of mobile banking users, which is still relatively under explored.
Evaluation of Antioxidant, Antidiabetic, and Cytotoxic Activities of Lilium nepalense D. Don

Lilium nepalense, a temperate medicinal plant, is used as a diuretic, antipyretic, tonic, flavoring agent, and heart pain treatment. This research aimed to evaluate the in vitro antioxidant and antidiabetic activities of the methanol, dichloromethane (DCM), and hexane fractions, and in vivo cytotoxic activities of the crude extracts of the bulb. The antioxidant activity was assessed by 2,2-diphenyl-1-picrylhydrazyl (DPPH) assay, antidiabetic activity by α-glucosidase inhibitory assay, and cytotoxic activity in terms of LC50 (median lethality concentration) by Brine shrimp assay. The DCM fraction showed the strongest antioxidant activity (IC50=134.99±9.75 µg/mL) and highest antidiabetic activity (IC50=182.01±20.50 µg/mL) than other fractions. Similarly, the DCM fraction had the highest total phenolic contents (243.97±33.78 mg of gallic acid equivalent per gram dry weight) and highest flavonoid contents (7.68±0.85 mg of quercetin equivalent per gram dry weight) than other fractions. Moreover, the crude extract of the bulb was not found to be cytotoxic to the Brine shrimp nauplii (LC50=3.83 mg/mL). It is the first report to date describing the antioxidant, antidiabetic, and cytotoxic properties of L. nepalense. This study concludes that the DCM fraction of the bulb could be used as an antioxidant and antidiabetic agent for therapeutic purposes; however, further identification and characterization of bioactive compounds responsible for the antioxidant, antidiabetic, and cytotoxicity is required for further validation.
Critical evaluation of the application of statistical phosphorus loading models to alpine lakes

The aims of the present thesis are to discuss the sta¬ tistical phosphorus loading models based mainly on the results gained in the Alpine Project of the OECD Eutrophication Program. The thesis contains an extended summary of the Alpine Project and a discussion of the applicabilities and li¬ mitations of the statistical models used to describe the trophic state of lakes. These are used to determine the extent of success of measures taken to reduce eutrophication. In the simple lake models only morphometric and nutrient loading values are applied. The sedimentation process and the nutrient release from the sediments are evaluated by a mass balance calculation. Stratification is ignored and the lake is treated as a mixed reactor in steady state. Emphasis is placed on the discussion of the following boundary conditions which set narrow limits on the ap¬ plicability of simple models: The true description of sedimentation requires the know¬ ledge of various processes including adsorption, as¬ similation and grazing. These are difficult to describe mathematically. To overcome these difficulties the use of sediment traps is recommended. Restoration may be delayed due to significant phosphorus release, promoted through anaerobic conditions of the sediments, which can exceed the input of phosphorus from land runoff. The different stratification behaviour and the turnover intensity should not be disregarded, since the great differences among lakes are probably caused by these characteristics. An attempt is made using mathematical transformations to determine the "necessary complexity" of the model. In addition to these model inconsistencies the value and determination of nutrient loading is also analyzed. Ac¬ curate quantification of the nutrient influxes are of primary necessity for lake restoration programs. By exa¬ mining various relationships relevant to the nutrient loading concept, the average statistical behaviour of a
Cross Sectional Study On The Dietary Habits And Lifestyle Practices Among University Students In Malaysia

Introduction: Growing rates of young adults have fallen prey to poor eating habits leading to obesity and various health issues. The National Health and Morbidity Survey conducted in 2019 revealed 50.1% of Malaysia’s adult population to be within the weight range of overweight and obese. While a rising number of university students contributed to these numbers, it was also noted that the factors contributing to such findings were unhealthy eating habits and poor lifestyle choices. Objective(s): This study assess the prevalence of overweight/obesity and explores the eating patterns and lifestyle practices among university students in Malaysia. Methodologies: A cross-sectional study was conducted among university students in Malaysia. A total of 268 students participated in the study. Data was collected from December 2022 to June 2023. Self-administered questionnaire comprising of questions pertaining to living circumstances, current weight, height, information on dietary habits, lifestyle practices and knowledge of balanced nutrition. The collected data were used to correlate the student’s dietary habits with their lifestyle practices based on gender and BMI. Results: The prevalence of overweight and obese students (53.378%) is higher than underweight and normal weight students consist of 55.245% of male students and 44.755% of female students. There is a significant association found between BMI, gender and assessment of dietary habits suggest that eating habits vary based on body weight and gender. Students with higher knowledge levels regarding food, lifestyle and nutrition tend to adopt better lifestyle practices. Conclusion: The study highlights the need for targeted interventions to promote healthier eating habits, lifestyle practices, and knowledge among university students. Strategies may include nutritional education programs, lifestyle workshops, and initiatives to enhance students' understanding of dieting, nutrition, and self-body image.
Identification and characterisation of Douglas-fir (Pseudotsuga menziesii (Mirb.) Franco) juvenile and adult wood grown in Southern Germany

More than one-third of Germany s Douglas-fir resources, stock in age-classes from twenty-one to fifty-nine years. As such timber increasingly enters markets, detailed knowledge of the anatomy and properties of its wood is of importance to forest managers and wood processors. Anatomical and mechanical wood analyses in this study were carried out on twenty trees from four scientifically managed plantations in Southern Germany. The age of the trees selected was forty-two years whereby varying growth conditions were considered. Juvenile and adult woods were identified by segmented linear regression of radial profiles of anatomical characteristics, such as latewood percentage, tracheid wall thickness microfibril angle and density. Additionally, the width of earlywood, latewood and growth rings as well as bending modulus of elasticity were determined. Variance was dependent on the trait used for differentiation, j uvenile wood comprised of an eleven to thirty-one growth rings resp. radial amounts of fifteen to sixty-five percent. When compared to adult wood, juvenile wood showed corresponding features of approximately thirty percent wider growth rings, th irty four percent lower latewood percentage, fourteen percent thinner tracheid walls, and eighty percent larger microfibril angles, eleven percent lighter wood and fifty -seven percent lower bending modulus of elasticity. As the assortment features fast grown trees, adult heartwood characteristics were slightly inferior to the characteristics of European Douglas-fir.