Miracle-dz/UniFAR-FTUs huggingface dataset:
Four different gene-related cone–rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance

Purpose: To investigate pathogenic variants in six families with cone–rod dystrophy (CORD) presenting various inheritance patterns by using whole-exome sequencing (WES) and analyzing phenotypic features. Methods: A total of six families with CORD were enrolled in Ningxia Eye Hospital for this study. The probands and their family members received comprehensive ophthalmic examinations, and DNA was abstracted from patients and family members. Whole-exome sequencing was performed on probands to screen the causative variants, and all suspected pathogenic variants were determined via Sanger sequencing. Furthermore, co-segregation analysis was performed on available family members. The pathogenicity of novel variants was predicted using in silico analysis and evaluated according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Of the six families, two families were assigned as X-linked recessive (XL), two families were assigned as autosomal recessive (AR), and two families were assigned as autosomal dominant (AD). Pathogenic variants were detected in CACNA1F in two X-linked recessive probands, among which family 1 had a hemizygous frameshift variant c.2201del (p.Val734Glyfs*17) and family 2 had a hemizygous missense variant c.245G>A (p.Arg82Gln). Both probands had high myopia, with fundus tessellation accompanied by abnormalities in the outer structure of the macular area. The homozygous splice variant c.2373 + 5G>T in PROM1 and the homozygous nonsense variant c.604C>T (p.Arg202Ter) in ADAM9 were detected in two autosomal recessive families of the probands. Both probands showed different degrees of atrophy in the macular area, and the lesions showed hypofluorescence changes in autofluorescence. The heterozygous variation in CRX c.682C>T (p.Gln228Ter) was detected in two autosomal dominant families. The onset age of the two probands was late, with better vision and severe macular atrophy. According to ACMG guidelines and the analysis of online in silico tools, all variations were labeled as potentially harmful or pathogenic. Conclusion: Pathogenic variants in CACNA1F, PROM1, ADAM9, and CRX genes were identified in six families affected by the diverse inheritance patterns of CORD. Furthermore, the potential impact of the nonsense-mediated decay (NMD) mechanism on the manifestation of CORD phenotypes was examined and addressed. Simultaneously, the spectrum of pathogenic variants and clinical phenotypes associated with the CORD gene was extended.
Water for Human Consumption in Rural Areas Worldwide: A Systematic Review of the Presence of Cryptosporidium spp. and Giardia spp.

Reports of gastrointestinal disease outbreaks caused by pathogenic protozoans in rural areas are still small in numbers. This study has evaluated, at global level, the parasitological contamination by Cryptosporidium spp. and Giardia spp. , of water resources used as sources for human consumption in rural areas, spanning from 1994 to 2022. For such, a systematic review was conducted, following the PRISMA guidelines, applying a descriptive and statistical analysis to the data. A total of 29 eligible articles reported contamination in 90 different springs spread throughout six continents. It was possible to see a greater tendency of giardiasis outbreak occurrences in water coming from surface springs in countries with higher HDI (above 0.8), justified by the lack of data in countries with other HDIs. The water sources intended for human supply in rural areas are susceptible to parasitological contamination, especially in Asia and Oceania. In spite of the fact that there have been no reports regarding giar-diasis outbreaks in the reviewed studies, it is important to notice that the concentration of pathogens may have been greater due to the low recovery of the methods of detection. Therefore, it is advisable to conduct more studies about the contamination of water resources in rural areas, as well as the adoption of prevention measures regarding waterborne diseases, such as boiling water.
Sediment input from fluvial sources and cliff erosion to the continental shelf of Argentina

The coasts of southern Buenos Aires, Patagonia and Tierra del Fuego are dominated by cliff erosion. Mean rates of cliff retreat are estimated to be about 0.5-0.6 m/year by comparing old photographs with modern satellite images. Considering the height of the Patagonian and Fueguian cliffs (70 to 120 m), the volume of sediment eroded from these cliffs exceeded the volumes provided by the erosion of the cliffs of Buenos Aires (10 to 20 m height). These erosion rates support an estimated delivery of 217 million tons of sediment per year to the continental shelf, exceeding significantly the 22 millions of tons/year transported by the larger Patagonian rivers Negro and Colorado. However, the contribution of these rivers has decreased since the Late Pleistocene changes in the direction of transport of some watersheds. The Chubut and Chico de Santa Cruz rivers suffered reductions of 21-24% in their watershed areas, resulting in reductions of about 33-34% in the volume of water transported to the Atlantic Ocean per year. As the amount of sediment delivered to the Argentine continental shelf by cliff erosion is higher than the fluvial transport, it should be also considered in the balance of beaches fed by longshore transport.
A descriptive study of vancomycin use at Red Cross War Memorial Children’s Hospital, Cape Town

Background Antimicrobial stewardship principles guide the clinical use of antimicrobials, including vancomycin, but paediatric vancomycin prescribing practices have not been evaluated in South Africa. Objectives To document the use, prescribing practices and monitoring of intravenous vancomycin and the spectrum of bacteria isolated on microbiological culture in children treated with intravenous vancomycin during a 12-month period at Red Cross War Memorial Children’s Hospital (RCWMCH). Method A retrospective audit of intravenous vancomycin use in children admitted to RCWMCH during 2019 was performed. Results All 158 vancomycin prescription episodes for 143 children were included. Overall usage of intravenous vancomycin was 63 days of therapy per 1000 patient days (interquartile range [IQR]: 38–72). The median starting dose was 15 mg/kg per dose (IQR: 14–15) and median daily dose was 45 mg/kg per day (IQR: 43–60). Vancomycin was prescribed as empiric (127/158, 80%) and directed (31/158, 20%) treatment. The median duration of treatment for the directed group (7 days) was longer than the empiric group (4 days) (p = 0.001). Vancomycin serum trough concentrations were performed in 65/98 (66%) episodes where vancomycin treatment exceeded 3 days, with only 16/65 (25%) of these samples obtained before the fourth dose. Prolonged antibiotic treatment of 14 days or more was not associated with Gram-positive bacteria on culture (odds ratio [OR]: 1.02, 95% confidence interval [CI]: 0.17–4.2). Conclusion Dosing errors, prolonged empiric treatment and inappropriate vancomycin monitoring were problems associated with vancomycin prescriptions. Contribution The study identified multiple opportunities for improved vancomycin prescribing and monitoring. Further research and implementation of improved prescribing practices could contribute to the preservation of vancomycin as an effective antibiotic.
Current mental status and burnout level among ophthalmologists in Riyadh, Saudi Arabia: a cross-sectional study

Background: The World Health Organization's recent recognition of burnout as an "occupational phenomenon" underscores its significance in healthcare settings. Ophthalmologists, in particular, face a heightened risk of burnout, which can have grave implications for patients, healthcare peers, and organizations. This study investigates the mental health and burnout levels of ophthalmologists in Riyadh, Saudi Arabia. Methods: A cross-sectional study was conducted in Riyadh's multiple hospitals, utilizing a questionnaire with three sections: demographics, mental health assessment (using depression anxiety stress scales-21), and burnout evaluation (using Maslach Burnout Inventory-Human Services Survey). Data were analyzed using Statistical Package for the Social Sciences. Results: Mental health assessments revealed varying degrees of depression (40.0% no depression, 17.5% mild, 23.8% moderate, and 18.8% severe), anxiety (31.9% no anxiety, 10.6% mild, 21.9% moderate, and 35.6% severe), and stress (15.0% mild, 14.4% moderate, and 10.0% severe). Burnout levels indicated 43.8% with low depersonalization, 17.5% with moderate, and 38.8% with high levels. The overall burnout prevalence was 32.5%, with 67.5% not experiencing burnout. Burnout was more prevalent among ophthalmologists with 6-10 years' of experience compared to those with ≤5 years. On-call duties did not significantly impact burnout prevalence. Conclusion: This study underscores the pressing issue of mental health and burnout among ophthalmologists in Riyadh, Saudi Arabia. The findings emphasize the urgent need for tailored interventions and support systems to address the considerable psychological distress and burnout within this workforce. Future research should explore longitudinal designs to gain a deeper understanding of the evolving mental well-being of ophthalmologists over time.
Nonlinear Wave Front Reconstruction from a Pyramid Sensor using Neural Networks

The pyramid wave front sensor (PyWFS) has become increasingly popular to use in adaptive optics (AO) systems due to its high sensitivity. The main drawback of the PyWFS is that it is inherently nonlinear, which means that classic linear wave front reconstruction techniques face a significant reduction in performance at high wave front errors, particularly when the pyramid is unmodulated. In this paper, we consider the potential use of neural networks (NNs) to replace the widely used matrix vector multiplication (MVM) control. We aim to test the hypothesis that the NN's ability to model nonlinearities will give it a distinct advantage over MVM control. We compare the performance of a MVM linear reconstructor against a dense NN, using daytime data acquired on the Subaru Coronagraphic Extreme Adaptive Optics system (SCExAO) instrument. In a first set of experiments, we produce wavefronts generated from 14 Zernike modes and the PyWFS responses at different modulation radii (25, 50, 75, and 100 mas). We find that the NN allows for a far more precise wave front reconstruction at all modulations, with differences in performance increasing in the regime where the PyWFS nonlinearity becomes significant. In a second set of experiments, we generate a data set of atmosphere-like wavefronts, and confirm that the NN outperforms the linear reconstructor. The SCExAO real-time computer software is used as baseline for the latter. These results suggest that NNs are well positioned to improve upon linear reconstructors and stand to bring about a leap forward in AO performance in the near future.
The Results of Large–Scale Measurements of Natural Ice Nuclei

Abstract A lengthy experiment in which simultaneous measurements of ice nucleus concentrations have been made continuously at 24 places in Eastern Australia is described. The main results show: (1) no association of ice nuclei active at–15C with terrestrial or volcanic dusts; (2) a close association with rainfall; (3) a tendency for high concentrations to occur in an east-west band or bands; (4) a strong lunar control of ice nucleus concentrations. The implications of these results are discussed.
Geotechnical aspects of damage in Adapazari City during 1999 Kocaeli, Turkey earthquake

ABSTRACT Reported are the results of a detailed investigation of the structural damage and its geotechnical condition in the Adapazari City, Turkey, during the 1999 Kocaeli earthquake by the Japanese Geotechnical Society Reconnaissance Team. Damage to individual buildings was investigated along several streets in the downtown area. A regional investigation was made of an area larger than the downtown area, in which damage to buildings and houses was classified by cause, i.e., inertia force or ground deformation. These investigations as well as hearing investigation and aerial investigation by means of helicopters made clear the area where there was an island a few hundred years ago from which the name of Adapazari, i.e., ada (island) + pazari (market), came from. In addition, the damage in the Adapazari City is shown to be strongly affected by the ground condition because damage caused by liquefaction was observed only outside the old island and areas where significant structural damage was observed were concentrated in the nonliquefied area near the boundary between the old riverbed and island.
Towards Sustainable Integration: Techno-Economic Analysis and Future Perspectives of Co-located Wind and Hydrogen Energy Systems

This paper presents a comprehensive study that focuses on the techno-economic analysis of co-located wind and hydrogen energy integration within an Integrated Energy System (IES). The research investigates four distinct cases, each exploring various configurations of wind farms, electrolyzers, batteries, hydrogen storage tanks, and fuel cells. To obtain optimal results, the study employs a sophisticated mathematical optimization model formulated as a mixed-integer linear program. This model helps determine the most suitable component sizes and hourly energy scheduling patterns. The research utilizes historical meteorological data and wholesale market prices from diverse regions as inputs, enhancing the study's applicability and relevance across different geographical locations. Moreover, sensitivity analyses are conducted to assess the impact of hydrogen prices, regional wind profiles, and potential future fluctuations in component prices. These analyses provide valuable insights into the robustness and flexibility of the proposed IES configurations under varying market conditions and uncertainties. The findings reveal cost-effective system configurations, strategic component selections, and implications of future energy scenarios. Specifically comparing to configurations that only have wind and battery combinations, we find that incorporating an electrolyzer results in a 7% reduction in the total cost of the IES, and utilizing hydrogen as the storage medium for fuel cells leads to a 26% cost reduction. Additionally, the IES with hybrid hydrogen and battery energy storage achieves even higher and stable power output. This research facilitates decision-making, risk mitigation, and optimized investment strategies, fostering sustainable planning for a resilient and environmentally friendly energy future.
Hydrochemistry of carbonate terrains in alpine glacial settings

Nearly 200 analyses of meltwaters, ice and snow from three alpine glacial sites in carbonate terrain are summarized and discussed in terms of sources of solutes and kinetic controls on the progress of weathering reactions. Most data derive from the Swiss Glacier de Tsanfleuron which is based on Cretaceous and Tertiary pure and impure limestones. Two other sites (Marmolada, Italian Dolomites and the Saskatchewan Glacier, Alberta) are based on a mixed calcitic‐dolomitic substrate. Most solutes originate from carbonate dissolution; moreover, where pyrite is present its oxidation supplies significant sulphate and forces more dissolution of carbonate. The ratios Sr2+/Ca2+ and Mg2+/Ca2+ are much higher in Tsanfleuron melt‐waters than local bedrock, a phenomenon that can be reproduced in the laboratory at small percentages of dissolution. These anomalous ratios are attributed to incongruent dissolution of traces of the metastable carbonates Mg‐calcite and aragonite. These phases also provide Na+ to solution. K+ is argued to originate mainly by ion‐exchange on clays with solute Ca2+. Quartz and very minor feldspar dissolution are also inferred. Locally enhanced input from atmospheric sources is recognized by high Cl− and associated Na+. The progress of weathering reactions has been evaluated by the trends in the data, computer modelling and some simple laboratory experiments. The most dilute samples show a trend towards removal of CO2 to low partial pressures (c. 10−5.5 atmospheres), reflecting initially rapid carbonate dissolution and relatively slow dissolution of gaseous CO2. Later addition of atmospheric CO2 or acid from pyrite oxidation allows further carbonate dissolution, but solutions show a wide range of saturations, and CO2 pressures as high as 10−2.2 where pyrite oxidation is important. In a carbonate terrain, measurement of electroconductivity (corrected to 25°C) and alkalinity in the field allows the following preliminary deductions (where meq stands for milliequivalents): (Formula Presented.) where S is the minimum meq(Ca2+ + Mg2+) produced by simple dissolution of carbonate unconnected with pyrite oxidation. As with any proxy method, these deductions do not remove the need for chemical analysis of waters in a given study area. Copyright © 1994 John Wiley & Sons, Ltd
Ground Engineering For The Autoroute 30 PPP Project, Montréal Canada

At CAD $1.54B, the Nouvelle Autoroute 30 project is the largest and second Public Private Partnership (PPP) transportation project procured in the province of Québec, Canada. It will operate as a tolled two-lane 42km divided highway with 31 bridges including two major bridge crossings of the St Lawrence River and Beauharnois Canal and a short tunnel. The project is located approximately 30km south-west from downtown Montréal and will relieve traffic congestion on Montréal Island by providing the final section of an alternative southern bypass route. The project is located in a seismic cold climate region and is underlain by deep deposits of soft sensitive Champlain Clay along much of the route. The ground engineering solutions engineered for the project include driven steel piles, drilled shafts and micro-piles, pile load testing, spread footings, earthworks (cuttings and embankments) including lightweight fill and surcharged embankments on soft clays with vertical drains as well as instrumentation and monitoring. This paper describes details of the geotechnical solutions designed and constructed on this major self-certification infrastructure project, and how by combining local and international experience the ground investigation, geotechnical design and construction certification were successfully delivered under this procurement method.
Efecto de extractos vegetales de Polygonum hydropiperoides, Solanum nigrum y Calliandra pittieri sobre el gusano cogollero (Spodoptera frugiperda) Effect of plant extracts of Polygonum hydropiperoides, Solanum nigrum and Calliandra pittieri in Spodoptera frugiperda

El gusano cogollero Spodoptera frugiperda es una de las plagas que mas afectan los cultivos en la region de Sumapaz (Cundinamarca, Colombia). En la actualidad se controla principalmente aplicando productos de sintesis quimica, sin embargo la aplicacion de extractos vegetales surge como una alternativa de menor impacto sobre el ambiente. Este control se emplea debido a que las plantas contienen metabolitos secundarios que pueden inhibir el desarrollo de los insectos. Por tal motivo, la presente investigacion evaluo el efecto insecticida y antialimentario de extractos vegetales de barbasco Polygonum hydropiperoides (Polygonaceae), carbonero Calliandra pittieri (Mimosaceae) y hierba mora Solanum nigrum (Solanaceae) sobre larvas de S. frugiperda biotipo maiz. Se establecio una cria masiva del insecto en el laboratorio utilizando una dieta natural con hojas de maiz. Posteriormente se obtuvieron extractos vegetales utilizando solventes de alta polaridad (agua y etanol) y media polaridad (diclorometano) los cuales se aplicaron sobre las larvas de segundo instar. Los resultados mas destacados se presentaron con extractos de P. hydropiperoides, obtenidos con diclorometano en sus diferentes dosis, con los cuales se alcanzo una mortalidad de 100% 12 dias despues de la aplicacion y un efecto antialimentario representado por un consumo de follaje de maiz inferior al 4%, efectos similares a los del testigo comercial (Clorpiriphos). Spodoptera frugiperda is a one of the pest that affects the crops of Sumapaz region (Cundinamarca, Colombia). Traditionally, applying synthetic chemical products controls it, however the application of vegetable extracts is emerging as an environmental friendly alternative. This control is used because plants contain allelochemicals that inhibit the development of insects. For this reason, the present research evaluated the insecticide and antifeeding effects of plant extracts of Polygonum hydropiperoides (Polygonaceae), Calliandra pittieri (Mimosaceae) and Solanum nigrum (Solanaceae) in S. frugiperda larvae. To evaluate these effects a massive breeding of the insect was carried out using a natural corn leaf diet. Subsequently, plant extracts were obtained using high-polarity solvents (water and ethanol) and medium polarity (dichloromethane) that were applied on the second instar larvae. The highlighted results were presented with P. hydropiperoides extracts, obtained with dichloromethane in different doses, that reached mortality rate of 100% 12 days after the application, and an antifeeding effect represented by a foliage consumption below 4%, similar to the effect of the application of Clorpiriphos.
KPT6566 induces apoptotic cell death and suppresses the tumorigenicity of testicular germ cell tumors

Testicular germ cell tumors (TGCTs) frequently affect adolescent and young adult males. Although TGCT is more responsive to cisplatin-based chemotherapy than other solid tumors, some patients are nonresponders, and following treatment, many patients continue to experience acute and long-term cytotoxic effects from cisplatin-based chemotherapy. Consequently, it is imperative to develop new therapeutic modalities for treatment-resistant TGCTs. Peptidyl-prolyl isomerase (Pin1) regulates the activity and stability of many cancer-associated target proteins. Prior findings suggest that Pin1 contributes to the pathogenesis of multiple human cancers. However, the specific function of Pin1 in TGCTs has not yet been elucidated. TGCT cell proliferation and viability were examined using cell cycle analysis and apoptosis assays following treatment with KPT6566, a potent, selective Pin1 inhibitor that covalently binds to the catalytic domain of Pin1. A xenograft mouse model was used to assess the effect of KPT6566 on tumor growth in vivo. KPT6566 effectively suppressed cell proliferation, colony formation, and ATP production in P19 and NCCIT cells. Further, KPT6566 induced apoptotic cell death by generating cellular reactive oxygen species and downregulating the embryonic transcription factors Oct-4 and Sox2. Finally, KPT6566 treatment significantly reduced tumor volume and mass in P19 cell xenografts. The Pin1 inhibitor KPT6566 has significant antiproliferative and antitumor effects in TGCT cells. These findings suggest that Pin1 inhibitors could be considered as a potential therapeutic approach for TGCTs.