Miracle-dz/UniFAR-FTUs huggingface dataset:
Radiological Findings of Woodhouse-Sakati Syndrome: Cases Reported From Saudi Arabia

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neurodegenerative genetic disorder caused by mutations in the DCAF17 gene. It primarily manifests with endocrinological symptoms such as hypogonadism, failure to develop secondary sexual characteristics, diabetes, and hypotrichosis. Neurological manifestations include intellectual disabilities, dystonia, dysarthria, and hearing loss. This paper describes the cases of two Saudi Arabian sisters, aged 37 and 36, who were born to first-degree consanguineous parents. They had normal growth and development except for certain intellectual disabilities. However, they were presented with primary amenorrhea and no secondary sexual characteristics at puberty, and they were subsequently diagnosed with WSS. The first patient presented with dysmorphic features, dysarthria, tremors, and dystonia. The second patient presented with hypotrichosis, predominantly affecting the temporo-occipital regions, and cerebellar signs on physical exam. Both patients had hair thinning and bilateral sensorineural hearing loss. Brain MRI of both patients showed increased iron deposition in the basal ganglia and multiple faint T2-FLAIR (fluid-attenuated inversion recovery) hyperintensity foci involving the centrum semiovale, corona radiata, and peritrigonal white matter bilaterally. MRI abdomen of the second patient revealed early hepatic fibrosis, with diffuse moderate to severe hepatic steatosis reaching a fat fraction of 19%, and increased intensity of the splenic vein with multiple collaterals. Further research is needed to achieve a better understanding of this syndrome to improve patient care and outcomes.
Conserved role for Ataxin‐2 in mediating endoplasmic reticulum dynamics

Ataxin‐2, a conserved RNA‐binding protein, is implicated in the late‐onset neurodegenerative disease Spinocerebellar ataxia type‐2 (SCA2). SCA2 is characterized by shrunken dendritic arbors and torpedo‐like axons within the Purkinje neurons of the cerebellum. Torpedo‐like axons have been described to contain displaced endoplasmic reticulum (ER) in the periphery of the cell; however, the role of Ataxin‐2 in mediating ER function in SCA2 is unclear. We utilized the Caenorhabditis elegans and Drosophila homologs of Ataxin‐2 (ATX‐2 and DAtx2, respectively) to determine the role of Ataxin‐2 in ER function and dynamics in embryos and neurons. Loss of ATX‐2 and DAtx2 resulted in collapse of the ER in dividing embryonic cells and germline, and ultrastructure analysis revealed unique spherical stacks of ER in mature oocytes and fragmented and truncated ER tubules in the embryo. ATX‐2 and DAtx2 reside in puncta adjacent to the ER in both C. elegans and Drosophila embryos. Lastly, depletion of DAtx2 in cultured Drosophila neurons recapitulated the shrunken dendritic arbor phenotype of SCA2. ER morphology and dynamics were severely disrupted in these neurons. Taken together, we provide evidence that Ataxin‐2 plays an evolutionary conserved role in ER dynamics and morphology in C. elegans and Drosophila embryos during development and in fly neurons, suggesting a possible SCA2 disease mechanism.
Chemical-mechanical treatment of potato starch for isolation of nanocrystal particles

Starch nanocrystals were isolated by a combination of acid hydrolysis and sonication of native potato starch. The obtained samples were examined by XRD, scanning electron microscopy and static light scattering. An increase in hydrolysis time increases the degree of crystallinity from 47 to 66%. By changing the processing conditions, it is possible to isolate particles of a given size. First, submicron flat particles with dimensions of 3000–5000 nm and a thickness of 80–100 nm are obtained. With longer processing, approximately isometric nanoscale particles remain. Based on the obtained data, a stepwise topochemical mechanism for the formation of starch nanoparticles was proposed.
Index of elliptic operators for diffeomorphisms of manifolds

We develop elliptic theory of operators associated with a diffeomorphism of a closed smooth manifold. The aim of the present paper is to obtain an index formula for such operators in terms of topological invariants of the manifold and of the symbol of the operator. The symbol in this situation is an element of a certain crossed product. We express the index as the pairing of the class in K-theory defined by the symbol and the Todd class in periodic cyclic cohomology of the crossed product.
Understanding people’s motivations for a long-distance hiking trip

ABSTRACT This research examines the process behind the decision to undertake a multi-week hiking trip. It analyzes memoirs to understand people’s interest in, preparation for, and consumption of three long-distance thru-hiking trails – the Camino de Santiago, the Appalachian Trail, and the Pacific Crest Trail. The study reveals that the inspiration for long-distance hiking often arises as a vague notion, serendipitously through accidental exposure. This idea may incubate for years as people add the idea to a mental ‘bucket list’. Most typically, an important event triggers the decision to attempt the trail. Once people commit, preparatio requires information and intensive planning. The trip itself is typically a time of self-discovery. Finally, some hikers become devotees and serve as online evangelists to other potential hikers. These narratives provide an understanding of the psychological aspects behind the consumer journeys and the value of examining people’s narratives as a source of this understanding.
SARS-CoV-2 and HIV: Impact on Pulmonary Epithelial Cells

The SARS-CoV-2 pandemic provides a natural opportunity for the collision of coronavirus disease-2019 (COVID-19) with chronic infections, which place numerous individuals at high risk of severe COVID-19. Infection with Human Immunodeficiency Virus (HIV), a global epidemic, remains a major public health concern. Whether prior HIV+ status exacerbates COVID-19 warrants investigation. Herein, we characterized the impact of SARS-CoV-2 in human bronchial epithelial cells (HBECs) previously exposed to HIV. We optimized the air-liquid interface (ALI) cell culture technique to allow for challenges with HIV at the basolateral cell surface and SARS-CoV-2 spike protein on the apical surface, followed by genetic analyses for cellular stress/toxicity and innate/adaptive immune responses. Our results suggest that the IL-10 pathway was consistently activated in HBECs treated with spike, HIV, or a combination. Recombinant spike protein elicited COVID-19 cytokine storms while HIV activated different signaling pathways. HIV-treated HBECs could no longer activate NF-kB, pro-inflammatory TRAF-6 ubiquitination nor RIP1 signaling. Combinations of HIV and SARS-CoV-2 spike increased gene expression for activation of endoplasmic reticulum-phagosome pathway and downregulated non-canonical NF-kB pathways that are key in functional regulatory T cells and RNA Polymerase II transcription. Our in vitro studies suggest that prior HIV infection may not exacerbate COVID-19. Further in vivo studies are warranted to advance this field.
Detection of Myocardial Infarction Using Ensemble Algorithm and Transfer Learning

The count of heart disease is increasing in India day by day. A lot of people die because of this disease without taking any medical treatment. The reason is there is no early symptoms or indication in patients. This makes it of extreme importance to predict not only myocardial Infarction (MI) but early MI also. In this research, the detection of myocardial infarction using an actual dataset is proposed. In this research, the dataset is categorized as angina (Early MI), MI, and NON-MI. Here consciously expertise opinion is taken and an actual dataset is collected from the hospitals. Input features are selected with the help of a literature survey and questionnaire circulated among the doctors. A new feature selection path is proposed. Based on these features the datasets are gathered from various hospitals. This dataset isn't adequate to give to the model. Provided that limited information restricts the training of the model subsequent in conceded results. To overawed the difficulty, an additional path is to be taken by providing synthetic data so as to supply information in a large to the model. A very novel idea transfer learning is useful in this study to get improved accuracy of the model. Supervised algorithms of machine learning such as Support Vector Machine (SVM), Naïve Bayes (NB), Decision Tree (DT), Random Forest (RF), K-Nearest Network (KNN), Quadratic discriminant analysis (QDA), AdaBoost are trained and tested on synthetic as well on actual datasets. An ensemble algorithm is applied to actual datasets to enhance the accuracy of the model.
WG29/WR7 Band Thermoelectric Power Sensor Characterization using Microcalorimetry Technique

NPL, PTB, and LNE designed and produced three different microcalorimeters for the WG29/WR7 band. The microcalorimeters used different correction methods to characterize effective efficiency. Finally, the three laboratories measured thermoelectric power sensors from 110 GHz to 170 GHz to demonstrate equivalence and results show good agreement.
Asymptotics of sharp constants of Markov-Bernstein inequalities in integral norm with Jacobi weight

The classical A. Markov inequality establishes a relation between the maximum modulus or the $L^{\infty}\left([-1,1]\right)$ norm of a polynomial $Q_{n}$ and of its derivative: $\|Q'_{n}\|\leqslant M_{n} n^{2}\|Q_{n}\|$, where the constant $M_{n}=1$ is sharp. The limiting behavior of the sharp constants $M_{n}$ for this inequality, considered in the space $L^{2}\left([-1,1], w^{(\alpha,\beta)}\right)$ with respect to the classical Jacobi weight $w^{(\alpha,\beta)}(x):=(1-x)^{\alpha}(x+1)^{\beta}$, is studied. We prove that, under the condition $|\alpha - \beta| < 4 $, the limit is $\lim_{n \to \infty} M_{n} = 1/(2 j_{\nu})$ where $j_{\nu}$ is the smallest zero of the Bessel function $J_{\nu}(x)$ and $2 \nu= \mbox{min}(\alpha, \beta) - 1$.
Politics of managing university education with emerging technologies in the covid-19 pandemic era: perspectives of academic staff in cross river state, nigeria.

The aim of this study was to analyze academic staff perception of politics of managing university education with emerging technologies in the Covid-19 pandemic era in Cross River State, Nigeria. Descriptive survey research design was adopted in this study. The population of the study was made up of all the 2867 academic staff academic staff cutting across the University of Calabar and Cross River University of Technology, all in Cross River State, Nigeria. To collect data for the study, the sample of the study was 1432 academic staff randomly selected from the entire population of academic staff of the two universities. Questionnaire was the major instrument for data collection. Data collected were coded and analyzed using mean, standard deviation and frequency counts. It was found among others that; appointment, funding, employment, award of contract and payment of EAA are all areas with political interference in the university system; YouTube, Edmodo, Facebook WhatsApp, Blogging, Telegramm, Digital White Board, Wechat, EasyBib, Notability, Projector and Zoom are among the emerging technologies in the university for teaching and learning in the covid-19 pandemic era. Among the recommendations was that university management and the government should ensure that emerging technologies are made available and optimally utilized by both academic staff and students for effective teaching, learning, assessment of students, research result dissemination and for the general management of the public universities.
DNA Methylation in Offspring Conceived after Assisted Reproductive Techniques: A Systematic Review and Meta-Analysis

Background: In the last 40 years, assisted reproductive techniques (ARTs) have emerged as potentially resolving procedures for couple infertility. This study aims to evaluate whether ART is associated with epigenetic dysregulation in the offspring. Methods. To accomplish this, we collected all available data on methylation patterns in offspring conceived after ART and in spontaneously conceived (SC) offspring. Results. We extracted 949 records. Of these, 50 were considered eligible; 12 were included in the quantitative synthesis. Methylation levels of H19 CCCTC-binding factor 3 (CTCF3) were significantly lower in the ART group compared to controls (SMD −0.81 (−1.53; −0.09), I2 = 89%, p = 0.03). In contrast, H19 CCCTC-binding factor 6 (CTCF6), Potassium Voltage-Gated Channel Subfamily Q Member 1 (KCNQ1OT1), Paternally-expressed gene 3 (PEG3), and Small Nuclear Ribonucleoprotein Polypeptide N (SNRPN) were not differently methylated in ART vs. SC offspring. Conclusion: The methylation pattern of the offspring conceived after ART may be different compared to spontaneous conception. Due to the lack of studies and the heterogeneity of the data, further prospective and well-sized population studies are needed to evaluate the impact of ART on the epigenome of the offspring.
Epidemiology of hydrocele and spermatocele; incidence, treatment and complications

Abstract Objectives: To estimate the incidence of men seeking specialized care and receiving treatment for hydro or spermatocele complaints. Also, to determine the risk of complications of treatment. Materials and methods: The total number of men living in Sweden each year from 2005 to 2014 was used to calculate incidence and age distribution of adult (≥18 years) men seeking specialized healthcare with either hydro or spermatocele. This was done by using nationwide registries, mandatory by law. They contain information on primary or discharge diagnosis, procedure codes and antibiotic prescriptions. Also, complication rates comparing aspiration (with or without sclerotherapy) and conventional surgery were analysed. Results: The incidence of men with either hydro or spermatocele diagnosis in specialized healthcare was ∼100/100,000 men. The treatment incidence was 17/100,000 men. Orchiectomy was used as primary treatment in 2.4% of cases. The risk of experiencing a complication was clinically and statistically significantly increased with conventional surgery as compared with aspiration, 17.5% (1607/9174) vs 4.6% (181/3920), corresponding to relative risk of 3.79 (95% CI = 3.27–4.40). Hematoma and infections were the most common complications. Conclusion: Hydro and spermatoceles are common, affecting elderly men. Aspiration seems advantageous with respect to complications and can be recommended due to the benign course of the disease. The indication for conventional surgery might be questioned such as the use of orchiectomy as primary treatment.
Using Item‐Response Theory to Improve Interpretation of the Trans Woman Voice Questionnaire

The Trans Woman Voice Questionnaire (TWVQ) is commonly used to quantify self‐perceptions of voice for trans women seeking gender‐affirming voice care, but the interpretation of TWVQ scores remains challenging. The objective of this study was to use item‐response theory (IRT) to evaluate the relationship between TWVQ items and persons on a common scale and identify improvements to increase the meaningfulness of TWVQ scores.
Quadratic boost converter based on stackable switching stages

The authors propose a novel step-up converter with stackable switching stages that is suitable for renewable energy applications. On the one hand, the converter gain corresponds to that of the traditional quadratic boost converter, achieving an arbitrary exponential gain in extended configurations. On the other hand, the proposed converter requires a single switch, while the output voltage is partitioned among several capacitors. As argued in this work, the features of the proposed topology represent a significant contribution with respect to standard topologies that exhibit greater voltage stress. The operation principle and the main characteristics of the proposed converter are validated with experimental results.
Dexamethasone and olmesartan as potential antiremodelling agents of valvular interstitial cell into myofibroblast

Rheumatic heart disease is a late complication of valvular inflammation caused by rheumatic fever. Studies have shown that the differentiation of valvular interstitial cells (VIC) into fibroblasts plays an important role in valvular remodeling and fibrosis. Various strategies to minimize valvular fibrosis has increased recently. This study aims to analyze the effect of dexamethasone, olmesartan, and its combination in inhibiting TGF-β1-induced VIC differentiation into myofibroblast. In vitro laboratory experimental-posttest only control group design was conducted. Isolated VIC of Oryctolagus cuniculus was pretreated using 2,5 ng/mL of TGF-β1 and divided into groups of dexamethasone (0.1 uM/L), olmesartan (100 nmol/L), and its combination. Inhibition of myofibroblast differentiation was quantified by the expression of α-SMA levels detected by immunoﬂuorescence. Dexamethasone, olmesartan, and its combination administration were significantly reduced TGF-β1-induced VIC differentiation into myofibroblast expressed by α-SMA levels (dexamethasone 6823 ± 1735.3, olmesartan 6683.7 ± 2795.05). Combination of dexamethasone and olmesartan exhibit the most potent inhibition compared to control (5051.87 ± 1612.210 vs 22286.73 ± 2780.2; p < 0.000). In conclusion, dexamethasone, olmesartan, and the combination can significantly reduce the differentiation of VIC into myofibroblasts. The greatest potential is the combined effect of dexamethasone and olmesartan, while dexamethasone and olmesartan have the same potential.
Dementia in People with Severe/Profound Intellectual (and Multiple) Disabilities: Applicability of Items in Dementia Screening Instruments for People with Intellectual Disabilities

ABSTRACT Introduction Diagnosing dementia in people with severe/profound intellectual (and multiple) disabilities (SPI(M)D) is complex. Whereas existing dementia screening instruments as a whole are unsuitable for this population, a number of individual items may apply. Therefore, this study aimed to identify applicable items in existing dementia screening instruments. Methods Informant interviews about 40 people with SPI(M)D were conducted to identify applicable items in the Dementia Scale for Down Syndrome, Behavioral and Psychological Symptoms of Dementia in Down Syndrome II scale, Dementia Questionnaire for persons with Mental Retardation and Social competence Rating scale for people with Intellectual Disabilities. Results Among 193 items, 101 items were found applicable, categorized in 5 domains: behavioral and psychological functioning (60 items), cognitive functioning (25), motor functioning (6), activities of daily living (5) and medical comorbidities (5). Conclusion Identifying applicable items for people with SPI(M)D is an essential step in developing a dedicated dementia screening instrument for this population.
Azole Resistance and cyp51A Mutation of Aspergillus fumigatus in a Tertiary Referral Hospital in Taiwan

Azole resistance in Aspergillus fumigatus has increasingly been reported worldwide. Its major mechanism of resistance is mediated by mutations in cyp51A. The objective of this study was to test the antifungal susceptibilities of A. fumigatus isolates from Chang Gung Memorial Hospital (CGMH), the largest tertiary referral hospital in Taiwan, and to investigate cyp51A mutations in azole-resistant strains. A. fumigatus isolates preserved in the Research Laboratory of Medical Mycology of CGMH from 2015 to 2021 were used. Antifungal susceptibility testing was performed using the YeastOneTM method. Isolates with high minimal inhibitory concentrations (MICs) against antifungals were further tested using the Clinical and Laboratory Standards Institute (CLSI) broth microdilution method. Mutations in the cyp51A in azole-resistant strains were detected by Sanger sequencing. The overall prevalence of azole-resistant isolates was 1.77% (two out of 113 isolates). The two azole-resistant strains had tandem repeats (TR) in the promoter region and mutations in the cyp51A gene (TR34/L98H and TR34/L98H/S297T/F495I). One strain showed intermediate susceptibility to voriconazole, and its Cyp51A protein had five amino acid substitutions (F46Y/M172V/N248T/D255E/E427K). TR34/L98H and TR34/L98H/S297T/F495I are the most prevalent cyp51A mutations in Taiwan, mediating azole resistance based on current publications and our results. YeastOneTM was validated as a rapid tool for the antifungal susceptibility test; however, further confirmation by CLSI should be considered when MIC values of voriconazole, posaconazole, and amphotericin B are close to the clinical breakpoints or ecological cutoff values.
Earnings Management and Annual Report Readability: The Moderating Effect of Female Directors

The purpose of this study is to examine the influence of earnings management on the readability of annual reports while also examining the moderating role of a female director. In particular, the readability of a company’s annual report will be seen from the management perspective using the FOG index on the annual reports of companies listed on the Indonesia Stock Exchange during 2015–2018 (excluding the financial sector), with a total sample of 996. This research confirms that companies that conduct earnings management can make complex company annual reports that are difficult to read as these companies tend to hide earnings management practices. Thus, the users of annual reports will find it difficult to identify these practices. This study confirms the mathematical theory of communication that annual reports are a communication tool for companies and, therefore, must be free from financial manipulation such as earnings management because this action will give a bad signal. Moreover, the moderating effect of female directors was not proven. This implies that female directors in Indonesia had not been able to moderate the readability of annual reports; one possibility might be due to the composition of female directors, which was relatively small.
Nature and Impacts of Tourism Development Facilities and Activities on the Livelihoods of Communities in Musina Municipality

ABSTRACT The paper examines the imports of nature and the impacts of tourism development initiatives in Musina Municipality, Limpopo, South Africa. Data was garnered via questionnaire surveys, interviews, focus group discussions, document reviews, and physical observations. The study revealed the plentiful nature of tourism potential, manifesting both actual and potential tourism initiatives. However, tourism benefits to the locals were not forthcoming. Musina Municipality is one of the aridest areas in the far north of Limpopo province, South Africa. Rural communities’ poor livelihood conditions are prevalent. Despite its hinterland qualities, it occupies a largely tourism-based segment in the Vhembe District. Matters of tourism and local economic development have become a more widely studied topic in the past years. Nonetheless, few studies have investigated the synergies between various components and forms of tourism services in rural areas to advance the local communities.