Miracle-dz/UniFAR-FTUs huggingface dataset:
Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis

Autosomal recessive osteopetrosis (ARO) is a severe genetic bone disease characterized by high bone density due to mutations that affect formation or function of osteoclasts. Mutations in the a3 subunit of the vacuolar‐type H+‐ATPase (encoded by T‐cell immune regulator 1 [TCIRG1]) are responsible for ~50% of all ARO cases. We identified a novel TCIRG1 (c.G630A) mutation responsible for an unusually mild form of the disease. To characterize this mutation, osteoclasts were differentiated using peripheral blood monocytes from the patient (c.G630A/c.G630A), male sibling (+/+), unaffected female sibling (+/c.G630A), and unaffected parent (+/c.G630A). Osteoclast formation, bone‐resorbing function, TCIRG1 protein, and mRNA expression levels were assessed. The c.G630A mutation did not affect osteoclast differentiation; however, bone‐resorbing function was decreased. Both TCIRG1 protein and full‐length TCIRG1 mRNA expression levels were also diminished in the affected patient's sample. The c.G630A mutation replaces the last nucleotide of exon 6 and may cause splicing defects. We analyzed the TCIRG1 splicing pattern between exons 4 to 8 and detected deletions of exons 5, 6, 7, and 5‐6 (ΔE56). These deletions were only observed in c.G630A/c.G630A and +/c.G630A samples, but not in +/+ controls. Among these deletions, only ΔE56 maintained the reading frame and was predicted to generate an 85 kDa protein. Exons 5‐6 encode an uncharacterized portion of the cytoplasmic N‐terminal domain of a3, a domain not involved in proton translocation. To investigate the effect of ΔE56 on V‐ATPase function, we transformed yeast with plasmids carrying full‐length or truncated Vph1p, the yeast ortholog of a3. Both proteins were expressed; however, ΔE56‐Vph1p transformed yeast failed to grow on Zn2+‐containing plates, a growth assay dependent on V‐ATPase‐mediated vacuolar acidification. In conclusion, our results show that the ΔE56 truncated protein is not functional, suggesting that the mild ARO phenotype observed in the patient is likely due to the residual full‐length protein expression.
Construction and Implementation of Tibetan Cultural Relics Question and Answer System Based on Knowledge Graph

Tibet is a region with a long history and culture, with a large number of precious cultural relics resources. In the digital age, building a question-and-answer system based on the Knowledge map of Tibetan cultural relics can better protect and pass on Tibetan cultural heritage. Firstly, the Tibetan cultural relics data were obtained by crawler technology and stored in neo4j database to complete the knowledge graph construction. Secondly, in order to make the system understand the semantic information of the user's question, the bert_bilstm_crf model is used to recognize the entity information of the question, and the bert_textcnn model is used to recognize the intention of the question, and finally the answer result is returned by constructing the cypher query graph.
Provisioning the Early Bronze Age City of Tell es-Safi/Gath, Israel: Isotopic Analyses of Domestic Livestock Management Patterns

It is often assumed that domestic animals in early urban Near Eastern centres either are a reflection of the local pastoral economy, or were raised at a distance by pastoral specialists. In this paper, we test these assumptions through detailed isotopic analyses (carbon, oxygen and strontium) of caprines (sheep and goat) from Tell es-Safi/Gath, an Early Bronze Age urban centre in central Israel. The isotopic analyses demonstrate that the bulk of the caprines were raised within the general vicinity of the site, suggesting that the majority of food resources were largely produced at the local level, within the territory of the city-state, and not at a distance by specialised pastoralists. It is the rare specimen that comes from a great distance and would have entered the local system through long distance trade networks.
Biliary atresia in preterm infants: a single center experience and review of literature

Introduction The diagnosis of biliary atresia (BA) remains challenging, and there is still uncertainty regarding the optimal time to perform a Kasai portoenterostomy (KPE). Little is known about the difficulties in the diagnosis and outcomes of BA in preterm infants (PBA). This study, which represents the first Italian report of preterm infants with BA, aims to describe a single-center experience of BA in preterm newborns. Methods We retrospectively reviewed all infants consecutively diagnosed with BA who underwent a Kasai procedure at the Bambino Gesù Children’s Hospital between January 1998 and December 2021. Prematurity was defined as a gestational age (GA) of <37 weeks. Demographic, laboratory, and histology data were recorded, and the main outcomes considered were clearance of jaundice (COJ), native liver survival, and mortality. Results A total of 21 PBA were compared with 117 term BA controls (TBA). The median GA of PBA was 35.1 (32–36.1) weeks, with a mean birth weight of 2,100 (1,897–2,800) g. Age at first presentation was significantly lower in PBA patients: 46 (22–68) vs. 61 (44–72) days; p = 0.02. The median age at KPE was similar between the two groups: 70 days (33 corrected) for PBA vs. 67 in TBA; p = 0.8. At the time of surgery, median serum bilirubin was lower in the PBA group (7.7 vs. 8.6 mg/dl, p = 0.04). Similarly, the median APRi at the time of KPE was lower but not significant in the PBA group: 1.09 vs. 1.16; p = 0.8. No differences were found in terms of COJ between the PBA and TBA groups: n = 9 (43%) vs. 34 (35%); p = 0.2. Overall native liver survival was similar between the two groups: 8.6 (4.8–12.2) for the PBA group vs. 7.6 (5.6–9.5) years for the TBA group with no significant differences; p = 0.45. Post-KPE native liver survival was similar between the two groups: 38% vs. 52% at 5 years for the TBA and PBA groups, respectively; p = 0.54. Conclusion The PBA and TBA groups appear to have similar outcomes in terms of COJ, overall native liver survival, and 5-year liver survival. Considering the corrected GA, early KPE is related to lower cholestatic damage. Further multicenter studies are required.
An Analysis of Word-Formation Process Used in Students’ Writing at Eighth Grade of Smp Muhammadiyah Mandau

Language is related to word formation processes because it is the process of creating new words and new uses of the old words and also how new words are being formed. This research was about word formation processes used in students‟ writing at Eighth Grade of SMP Muhammadiyah Mandau. The aims of this thesis were to classify and analyze the word formation process used in students‟ writing and also to find out the kinds of word formation processes the most dominant one. The researcher used descriptive qualitative method, in which the data were words that contain word formation processes used in students‟ writing. The data were analyzed applying the theory of word formation processes by Yule (2010). The researcher took 10 students‟ writing as the data. The result of this research, there were 8 types of word formation processes were found in students‟ writing. They were borrowing, coinage, compounding, acronym, clipping, inflection and derivation. In finding the most dominant type of word formation processes was inflection (34.61%) then followed by compounding (22.07%), derivation (15.38%), borrowing (11.54%), acronym (7.7%), clipping (3.85%) and the last coinage (3.85%). As the conclusion, the process of inflection was the most dominant process that was found in students‟ writing. It was 34.61% of total words. It meant that the students used inflection to show plural or singular and tenses. Abstrak Bahasa berkaitan dengan proses pembentukan kata karena merupakan proses penciptaan kata-kata baru dan penggunaan baru dari kata-kata lama dan juga bagaimana kata-kata baru itu terbentuk. Penelitian ini adalah tentang penggunaan proses pembentukan kata pada Tulisan Siswa Kelas VIII SMP Muhammadiyah Mandau. Tujuan dari penulisan peneltian ini adalah untuk memgklasifikasi and menganalisis jenis-jenis dari proses pembentukan kata, kemudian menemukan proses pembentukan kata yang paling dominan di gunakan pada tulisan siswa. Peneliti menggunakan metode deskriptif kualitatif dan data berasal dari tulisan siswa yang mengandung proses pembentukan kata. Peneliti menganalis sebuah temuan dominant dengan menggunakan formula Yule (2010). Dari analisa penelitian ini, peneliti menemukan 7 proses dari pembentukan kata yang digunakan di dalam tulisan siswa yaitu borrowing, coinage, compounding, acronym, clipping, inflection and derivation. Proses pembentukan kata yang paling dominan adalah inflection (34.61%) kemudian diikuti oleh compounding (22.07%), derivation (15.38%), borrowing (11.54%), acronym (7.7%), clipping (3.85%) dan coinage (3.85%). Sebagai kesimpulan peneliti menemukan penggunaan inflection yang paling dominan pada tulisan siswa. Ini makna nya siswa menggunakan inflection untuk menunjukan bentuk tunggal or jamak dan bentuk waktu.
Gender perspective on the determinants of health outcomes in selected Southern African countries

Recurring global health concerns such as the COVID-19 pandemic served as perfect examples of the "health is wealth" discussion and contributed to a growing understanding of the strong relationships between multiple risks to global socioeconomic success and poor health. Another development is the inclusion of gender-specific health goals in the SDGs which have highlighted the critical role of women’s health in attaining global health and ending the cycle of poverty. This study aims at examining factors influencing women's health in two Southern African countries namely South Africa and Eswatini affected by a significant burden of disease. The regression outcomes show that female economic participation, human immunodeficiency virus (HIV), female education, teenage pregnancy, income and urbanization have varying effects on female health outcomes in both countries using gender specific socioeconomic factors within the framework of Autoregressive Distributed Lag (ARDL). This research engages policy makers and strategists in the health sector on the need to address gender disparities in formulating health policies. Moreover, policies and strategies aimed at fostering better health outcomes by solving national priority health challenges in particular the HIV/AIDS epidemic and health-risk behaviours should be prioritized.
Musculoskeletal Morphology and Joint Flexibility-Associated Functional Characteristics across Three Time Points during the Menstrual Cycle in Female Contemporary Dancers

Findings are inconsistent with regards to whether menstrual cycle phase-associated changes in physical functioning exist. It is possible that such discrepancies are due to varying rigour in experimental approaches. The current study aimed to systematically evaluate any effect of carefully tracked menstrual cycle phase on precisely measured muscle structure and function in a physically active group (contemporary dancers). Eleven women aged (M [SD]) 23.5 [2.94] years, undergoing 10.5 [1.73] hours of contemporary dance practice and 6.12 [2.36] hours of other physical activity per week, were recruited. Sex hormone level (enzyme-linked immunosorbent assays (ELISA), skin temperature and ovulation kits), physical pain assessments (Ice Water Test, Visual Analogue Scale, The Physical Activity Readiness Questionnaire, Self-Estimated Functional Inability Because of Pain Questionnaire, and Pain Anxiety Symptoms Scale), muscle architecture measurement (B-mode ultrasonography), and physical functioning (dynamometry, force-platform and electromyography) on both lower limbs were measured at three time points during one cycle, following three months of menstrual cycle monitoring. There was no difference in musculoskeletal flexibility variables between follicular, ovulatory, or luteal phases. Nonetheless, oestrogen change was associated with variability in 11 musculoskeletal variables, progesterone change was associated with variability in 7, and relaxin change was associated with variability in 15. Negative correlations existed between progesterone and flexibility and between oestrogen and jump variables. Moreover, oestrogen and relaxin were associated with increased musculoskeletal compliance, whilst progesterone was associated with increased muscle stiffness. In short, in absolute sex hormone levels, ‘inter-individual’ variances appear more impactful than ‘intra-individual’ variances. Not only are oestrogen and progesterone associated with differing musculoskeletal outcomes, but relaxin is also associated with musculoskeletal compliance changes. These effects are anticipated to impact jump height and flexibility, and hence, they could be expected to affect overall physical performance, including dance.
Fly Ash-based Adsorption for Hexavalent Chromium Removal in Aqueous Systems: A Promising Eco-Friendly Technique

Heavy-metal pollution has been and continues to be significantly influenced by excessive Cr(VI) emissions; recently, there has been a lot of interest in the emergence of a low-cost, secure, and effective technology for removing of Chromium from wastewater. Fly ash has been used in the present study for Hexavalent chromium adsorption. Characterized for their elemental composition, functional groups, and surface morphology, the impacting aspects of the adsorbent were explored. In this study, the chromium adsorption parameters were optimized and the prediction models were strengthened using the response surface methodology (RSM) and box behnken design (BBD). High regression coefficient (R2>0.98), insignificant lack of fit (0.52), high F-value, and low P-value (0.05) were all indicators of the quadratic model's good agreement with the predicted values. Adsorbent dose of 200 mg/100 ml, initial Cr (VI) concentration of 20 mg/L, contact time of 90 min, and pH of 1.0 were the optimal adsorption conditions. The cost-effectiveness, ease of modification, and high efficiency of fly ash make it a promising candidate for large-scale applications in addressing chromium pollution in wastewater.
Long-Term Outcome of Catheter-Directed Thrombolysis in Pregnancy-Related Venous Thrombosis

Background Venous thromboembolism (VT) is a leading cause of maternal mortality and morbidity worldwide. Catheter-directed thrombolysis (CDT) is an effective and safe treatment modality for VT patients. However, the long-term outcome of CDT in pregnancy-related venous thrombosis are unclear. The aim of this study was to assess long-term results of pregnancy-related VT patients. Material/Methods We reviewed 41 pregnancy-related deep venous thrombosis (DVT) patients who underwent CDT from February 2008 to May 2015. Clinical data, including demographic variables, disease location, vascular risk factors, treatment regimen, interventional procedure and complications, were collected retrospectively. Clinical and color-duplex ultrasonography were performed to monitor venous patency during follow-up. Post-thrombotic syndrome (PTS) was assessed with the Villalta scale and quality of life (QOL) was evaluated by the VEINES-QOL/Sym questionnaire. Results Twenty-three patients underwent spontaneous abortion or induced abortion within 3 months before DVT, and 18 patients had DVT during the first 3 months after delivery. Technical success was achieved in all patients. Grade III (complete) lysis was obtained in 15 patients and grade II (partial) lysis was obtained in 21 patients. The follow-up period was 3 years. Twenty-eight patients had venous patency at 3-year follow-up; 36.6% of patients developed mild or moderate PTS (Villalta score 5–14) and 4.8% with severe PTS (Villalta score ≥15). VEINES-QOL/Sym scores were 55.24±7.35 and 53.25±6.65, respectively. Conclusions Catheter-directed thrombolysis is a reliable and safe treatment modality for postnatal or abortion patients with DVT. CDT can reduce the incidence rate of PTS and increase the quality of life.
MANAJEMEN KETATAUSAHAAN DALAM MENINGKATKAN MUTU PELAYANAN ADMINISTRASI

Penelitian ini bertujuan untuk mengeksplorasi perencanaan, pelaksanaan dan kendala dalam meningkatkan mutu pelayanan administrasi di SMK Negeri 1 Sinjai. Metode penelitian yang digunakan adalah kualitatif dengan pendekatan fenomenologi. Data dikumpulkan melalui wawancara, observasi dan dokumentasi. Hasil penelitian menunjukkan bahwa perencanaan ketatausahaan di SMK Negeri 1 Sinjai melibatkan perumusan tugas dan fungsi layanan administrasi, penetapan tujuan, evaluasi pekerjaan, pengalokasian dana, pengadaan sarana dan prasarana, serta pemecahan masalah. Pelaksanaan ketatausahaan dilakukan dengan baik mulai dari perencanaan, pelaksanaan, pengelolaan, hingga pengawasan. Kegiatan ketatausahaan meliputi administrasi kepegawaian, keuangan, data dan informasi, sarana dan prasarana, serta persuratan. Kendala dalam meningkatkan mutu pelayanan di SMK Negeri 1 Sinjai adalah kurangnya sumber daya manusia di bagian tenaga administrasi dan masalah koneksi jaringan yang dapat menghambat proses pelayanan di sekolah. Implikasi dari penelitian ini adalah berfungsinya sistem manajemen ketatausahaan, peningkatan mutu pelayanan administrasi sekolah, serta terjalinnya kerja sama antara pengelola, pendidik dan peserta didik dalam mencapai tujuan tersebut.
Comments on: Periodicity in the extinction rate and possible astronomical causes – comment on mass extinctions over the last 500 myr: an astronomical cause? (Erlykin et al.)

COMMENTS ON: PERIODICITY IN THE EXTINCTION RATE AND POSSIBLE ASTRONOMICAL CAUSES – COMMENT ON MASS EXTINCTIONS OVER THE LAST 500 MYR: AN ASTRONOMICAL CAUSE? (ERLYKIN ET AL.) by ADRIAN L. MELOTT and RICHARD K. BAMBACH Department of Physics & Astronomy, University of Kansas, Lawrence, KS 66045, USA; melott@ku.edu Department of Paleobiology, National Museum of Natural History, Smithsonian Institution, PO Box 37012, MRC 121, Washington, DC 20013-7012, USA; richard.bambach@verizon.net
Trichoderma application methods differentially affect the tomato growth, rhizomicrobiome, and rhizosphere soil suppressiveness against Fusarium oxysporum

Trichoderma spp. are widely used to enhance crop growth and suppress diverse diseases. However, inconsistent field efficacy remains a major barrier to their use as a reliable alternative to synthetic pesticides. Various strategies have been investigated to enhance the robustness of their application. Here, we evaluated how T. virens application methods (pre-, at-, and post-transplant) affect the growth of two tomato varieties and their rhizosphere fungal and bacterial communities. Although the greatest rhizosphere abundance of T. virens was observed in the post-transplant application, the at-transplant application promoted tomato growth the most, indicating that greater rhizosphere abundance does not necessarily result in better tomato growth. None of the application methods significantly altered the global rhizosphere fungal and bacterial communities of the tested varieties. Changes in specific microbial genera and guilds may underpin the enhanced tomato growth. We also investigated whether the resulting microbiome changes affect the mycelial growth and conidial germination of Fusarium oxysporum f. sp. lycopersici and F. oxysporum f. sp. radicis-lycopersici, soilborne fungal pathogens of tomato, upon exposure to volatile compounds emitted by culturable rhizosphere microbes and metabolites extracted from the rhizosphere soils after Trichoderma treatments. Volatile compounds produced by cultured rhizosphere microbes after the at-transplant application suppressed the mycelial growth of both pathogens better than those after the other treatments. Similarly, water-soluble metabolites extracted from the rhizosphere soil samples after the at-transplant application most effectively suppressed the germination rate of F. oxysporum spores. Overall, our results suggest that the at-transplant application is most advantageous for promoting the growth of the tested tomato varieties and building soil suppressiveness against the tested fusaria. However, further studies are needed before applying this method to support tomato production. We discuss critical future questions.
ANTIBACTERIAL SCREENING OF SARGASSUM SP EXTRACT. OPPOSING VIBRIO PARAHAEMOLYTICUS BACTERIA

Antibiotics cause resistance to pathogenic bacteria, and the emergence of resistance and bacterial pathogenic infections makes scientists try to find new drugs. One of the efforts is to use marine organisms as a natural antibacterial agent, one of them is Sargassum sp. Sargassum sp contains alginate and iodine which are used in the food, pharmaceutical, cosmetic and textile industries. Apart from that, Sargassum sp. contains active compounds of steroids, alkaloids, phenols and triterpenoids which function as antibacterials, can be used to inhibit the growth of Vibrio sp bacteria which is the cause of firefly disease which is most dangerous for tiger prawns. The purpose of this study was to determine the ability of the extract Sargassum sp. In inhibiting the growth of Vibrio parahaemolyticus bacteria with different levels of solvent start with methanol, ethyl asetat, and n-hexane. The rejuvenation of Vibrio parahaemolyticus and Vibrio harveyimelalai bacteria is carried out in two stages, the first is planting on Triptyc Soy Broth (TSB) medium and the second stage is planting on Triptyc Soy Agar (TSA) medium. Antibacterial sensitivity test using disc diffusion method. The results of the test showed that 1). sargassum sp which is extracted by metanol solvent inhibits the growth of Vibrio parahemolyticus bacteria. 2). sargassum sp which extract by etil sestat and n - heksan solvent can't inhibit the Vibrio parahemolyticus bacteria.
Short‐Term Weather Patterns Modulate Air Quality in Eastern China During 2015–2016 Winter

The roles of anthropogenic emissions and weather conditions in air pollution over eastern China have been widely discussed but still controversial. Here we focus on the impact of the intraseasonal variability of midtropospheric weather circulations on air quality during 2015–2016 winter. We use the European Center for Medium‐Range Weather Forecasts reanalysis data to calculate westerly wind index (WI) and meridionality in the midtroposphere and also calculate the intensity of Siberian High at the surface. The results suggest that there were lower WI, higher meridionality, and strengthened Siberian High in January 2016 compared with the conditions in December 2015. Lower WI and higher meridionality imply for wavier midtropospheric weather circulations and stronger surface northerly winds, thereby causing more southward cold fresh air advection and resulting in the lower PM2.5 concentrations over eastern China in January 2016. Sensitivity experiments conducted by the Weather Research and Forecasting Chemical model show that the intraseasonal weather variability dominantly causes lower PM2.5 concentrations in January 2016. It not only counteracts increments in PM2.5 concentrations induced by the increased emission but also reduces PM2.5 concentrations by an extra 25–100 μg/m3. We also simulate two extreme weather patterns and compare their effects on PM2.5 concentrations. Difference in these two weather patterns induces changes in PM2.5 concentrations by 50–200 μg/m3 over eastern China and the maximal change exceeding 200 μg/m3. These findings suggest that understanding the variability of the dominant midtropospheric circulation is the key to successfully forecasting short‐term air quality over eastern China in winter.