bluuebunny/crossref_metadata_2025_split huggingface dataset:
The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study
Authors: Kolambage Yasas D. , Walpita Yasaswi N. , Liyanage Udari A. , Dayaratne Buddika M.K.D.R. , Dissanayake Vajira H.W. 
Published: September 2023

Abstract
Background
Skeletal dysplasias are a diverse group of rare disorders in the chondro-osseous tissue that can have a significant impact on patient’s functionality. The worldwide prevalence of skeletal dysplasias at birth is approximately 1:5000 births. To date, disease burden and trends of skeletal dysplasias in the Sri Lankan population have not been described in any epidemiological study. Our aim was to evaluate the burden and the current trends in hospital admissions for skeletal dysplasias in the Sri Lankan population. A retrospective evaluation of hospital admissions for skeletal dysplasia during 2017–2020 was performed using population-based data from the eIMMR database which covers government hospitals in the entire country. The trends in hospital admissions for skeletal dysplasias by calendar year, age, and types of skeletal dysplasia were described using appropriate summary statistics.

Results
Respective crude admission rates of skeletal dysplasias in the years 2017, 2018, 2019 and 2020 were 5.2, 8.1, 8.0, and 6.5 per million population. A female predominance (1.4:1) was noted during the studied period. Of all reported cases the majority (n = 268; 44.2%) were children less than 4 years. Each year, 0–4 years age group represented 40–47% of the total hospital admissions. More than half of the cases were reported from Colombo (28.1%) and Kandy (25.4%) districts combined. 60% of cases were diagnosed as osteogenesis imperfecta (OI). Rising trends were observed in the hospital admissions for osteogenesis imperfecta, achondroplasia and osteopetrosis, while other skeletal dysplasia types collectively showed a relatively stable trend.

Conclusion
This preliminary study revealed a female predominance of skeletal dysplasias and a relatively high admission rate of osteogenesis imperfecta in the Sri Lankan population. A distinct trend was not visible in the studied years probably due to the impact on hospital services due to COVID- Pandemic. Future research on the healthcare burden on families affected by skeletal dysplasia is required to better understand the overall cost of care and identify therapies that reduce admission rates. This study highlights the value of analysing population-based data on rare diseases to improve healthcare in low-resource countries.
Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay
Authors: Wang Jing , Wang Wei , Zhou Wenbo , Zhou Yan , Zhou Linna , Wang Xinyue , Yu Bin , Zhang Bin 
Published: September 2023

Abstract
Objective
This study aimed to establish a cell-free fetal DNA (cffDNA) assay using multiplex digital PCR (dPCR) for identifying fetuses at increased risk of 22q11.2 deletion/duplication syndrome.

Methods
Six detection sites and their corresponding probes were designed for the 22q11.2 recurrent region. A dPCR assay for the noninvasive screening of 22q11.2 deletion/duplication syndrome was established. A total of 130 plasma samples from pregnant women (including 15 samples with fetal 22q11.2 deletion/duplication syndrome) were blindly tested for evaluating the sensitivity and specificity of the established assay.

Results
DNA with different sizes of 22q11.2 deletion/duplication was detected via dPCR, indicating that the designed probes and detection sites were reasonable and effective. In the retrospective clinical samples, 11 out of 15 samples of pregnant women with 22q11.2 deletion/duplication were detected during the cffDNA assay, and accurate regional localization was achieved. Among the 115 normal samples, 111 were confirmed to be normal. Receiver operating characteristic curves were used for assessing the cut-off values and AUC for these samples. The sensitivity, specificity, and positive as well as negative predictive values were 73.3%, 96.5%, 73.3%, and 96.5%, respectively.

Conclusion
The cffDNA assay based on dPCR technology for the noninvasive detection of 22q11.2 recurrent copy number variants in fetuses detected most affected cases, including smaller but relatively common nested deletions, with a low false-positive rate. It is a potential, efficient and simple method for the noninvasive screening of 22q11.2 deletion/duplication syndrome.
SENP5 promotes homologous recombination-mediated DNA damage repair in colorectal cancer cells through H2AZ deSUMOylation
Authors: Liu Tingting , Wang Hang , Chen Yuanyuan , Wan Zhijie , Du Zhipeng , Shen Hui , Yu Yue , Ma Shengzhe , Xu Ying , Li Zhuqing , Yu Nanxi , Zhang Fangxiao , Cao Kun , Cai Jianming , Zhang Wei , Gao Fu , Yang Yanyong 
Published: September 2023

Abstract
Background
Neoadjuvant radiotherapy has been used as the standard treatment of colorectal cancer (CRC). However, radiotherapy resistance often results in treatment failure. To identify radioresistant genes will provide novel targets for combined treatments and prognostic markers.

Methods
Through high content screening and tissue array from CRC patients who are resistant or sensitive to radiotherapy, we identified a potent resistant gene SUMO specific peptidase 5 (SENP5). Then, the effect of SENP5 on radiosensitivity was investigated by CCK8, clone formation, comet assay, immunofluorescence and flow cytometric analysis of apoptosis and cell cycle to investigate the effect of SENP5 on radiosensitivity. SUMO-proteomic mass spectrometry combined with co-immunoprecipitation assay were used to identify the targets of SENP5. Patient-derived organoids (PDO) and xenograft (PDX) models were used to explore the possibility of clinical application.

Results
We identified SENP5 as a potent radioresistant gene through high content screening and CRC patients tissue array analysis. Patients with high SENP5 expression showed increased resistance to radiotherapy. In vitro and in vivo experiments demonstrated that SENP5 knockdown significantly increased radiosensitivity in CRC cells. SENP5 was further demonstrated essential for efficient DNA damage repair in homologous recombination (HR) dependent manner. Through SUMO mass spectrometry analysis, we characterized H2AZ as a deSUMOylation substrate of SENP5, and depicted the SUMOylation balance of H2AZ in HR repair and cancer resistance. By using PDO and PDX models, we found targeting SENP5 significantly increased the therapeutic efficacy of radiotherapy.

Conclusion
Our findings revealed novel role of SENP5 in HR mediated DNA damage repair and cancer resistance, which could be applied as potent prognostic marker and intervention target for cancer radiotherapy.
The PAPSS1 gene is a modulator of response to cisplatin by regulating estrogen receptor alpha signaling activity in ovarian cancer cells
Authors: Sun Lei , Ji Wei-Xue , Li Yan , Li Ze-Lian , Duan Can-Can , Xia Bai-rong , Xiao Lan 
Published: September 2023

Abstract
Background
Cancer cells may develop resistance to cisplatin by various mechanisms. Yet, the exact mechanism of cisplatin in ovarian cancer remains unclear. Recent studies have shown that 3’-phospoadenosine 5’-phosphosulfate synthase 1 (PAPSS1) inhibition combined with low-dose cisplatin increases DNA damage. The aim of this study was to determine the value of targeting PAPSS1 as a cisplatin modulator in epithelial ovarian cancer (EOC).

Results
Increased expression of PAPSS1 was observed in both EOC cells and tissues. Also, its higher nuclear expression was distinctly associated with FIGO (The International Federation of Gynecology and Obstetrics) stage, histological subtype, metastasis, and recurrence. Down-regulation of the PAPSS1 gene increased the cisplatin sensitivity of EOC in vitro and in vivo. Expression of PAPSS1 was negatively correlated with estrogen receptor α (ERα) in EOC. Also, low nuclear PAPSS1 and high nuclear ERα expression in EOC were associated with longer overall survival and progression-free survival in all ovarian cancer and ovarian cancer patients who received platinum-based chemotherapy. PAPSS1 silencing increased the activity of ERα-signaling in EOC cells, thus sensitizing tumors to cisplatin.

Conclusions
These findings characterize a novel interplay between PAPSS1-mediated sulfation and ERα-signaling in EOC cisplatin resistance. PAPSS1 may be exploited as a cisplatin-sensitizing therapeutic target.
Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology
Authors: Caffarelli Carlo , Santamaria Francesca , Piro Ettore , Basilicata Simona , D’Antonio Lorenzo , Tchana Bertrand , Bernasconi Sergio , Corsello Giovanni 
Published: September 2023

AbstractThe last year saw intensive efforts to advance knowledge in pediatric medicine. This review highlights important publications that have been issued in the Italian Journal of Pediatrics in 2022. We have chosen papers in the fields of allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology. Novel valuable developments in epidemiology, pathophysiology, prevention, diagnosis and treatment that can rapidly change the approach to diseases in childhood have been included and discussed.
Distinct requirements for Tcf3 and Tcf12 during oligodendrocyte development in the mouse telencephalon
Authors: Talley Mary Jo , Nardini Diana , Ehrman Lisa A. , Lu Q. Richard , Waclaw Ronald R. 
Published: September 2023

Abstract
Background
E-proteins encoded by Tcf3, Tcf4, and Tcf12 are class I basic helix-loop-helix (bHLH) transcription factors (TFs) that are thought to be widely expressed during development. However, their function in the developing brain, specifically in the telencephalon remains an active area of research. Our study examines for the first time if combined loss of two E-proteins (Tcf3 and Tcf12) influence distinct cell fates and oligodendrocyte development in the mouse telencephalon.

Methods
We generated Tcf3/12 double conditional knockouts (dcKOs) using Olig2Cre/+ or Olig1Cre/+ to overcome compensatory mechanisms between E-proteins and to understand the specific requirement for Tcf3 and Tcf12 in the ventral telencephalon and during oligodendrogenesis. We utilized a combination of in situ hybridization, immunohistochemistry, and immunofluorescence to address development of the telencephalon and oligodendrogenesis at embryonic and postnatal stages in Tcf3/12 dcKOs.

Results
We show that the E-proteins Tcf3 and Tcf12 are expressed in progenitors of the embryonic telencephalon and throughout the oligodendrocyte lineage in the postnatal brain. Tcf3/12 dcKOs showed transient defects in progenitor cells with an enlarged medial ganglionic eminence (MGE) region which correlated with reduced generation of embryonic oligodendrocyte progenitor cells (OPCs) and increased expression of MGE interneuron genes. Postnatal Tcf3/12 dcKOs showed a recovery of OPCs but displayed a sustained reduction in mature oligodendrocytes (OLs). Interestingly, Tcf4 remained expressed in the dcKOs suggesting that it cannot compensate for the loss of Tcf3 and Tcf12. Generation of Tcf3/12 dcKOs with Olig1Cre/+ avoided the MGE morphology defect caused by Olig2Cre/+ but dcKOs still exhibited reduced embryonic OPCs and subsequent reduction in postnatal OLs.

Conclusion
Our data reveal that Tcf3 and Tcf12 play a role in controlling OPC versus cortical interneuron cell fate decisions in MGE progenitors in addition to playing roles in the generation of embryonic OPCs and differentiation of postnatal OLs in the oligodendrocyte lineage.
Characterization of human Ccser2 as a protein tracking the plus-ends of microtubules
Authors: Shirai Yuko , Okuda Tomohiro , Oshima Kenzi , Nadano Daita 
Published: September 2023

Abstract
Objective
Microtubules, which are closely related to cell proliferation, have been the promising therapeutic target of cancer. Therefore, it is necessary to understand the intracellular control mechanisms of microtubules, the whole picture of which is still unclear though. Intracellular dynamics of microtubules are regulated by various microtubule-associated proteins, one group of which is microtubule plus-end-tracking proteins (+ TIPs), localizing to the extending tips of microtubules. Here, we report the identification and analysis of Ccser2 as a new + TIP in human breast cancer MCF-7 cells.

Results
Ccser2 was found to be a member of + TIPs by microscopic observations including time-lapse imaging. The C-terminal region of Ccser2, including two SxIP motifs, was likely to be important for the tracking function. In MCF-7 cells, endogenous Ccser2 was mainly detected in the peripheral regions of microtubule fibers, suggesting that Ccser2 functions in cell projections.
Role of authentication factors in Fin-tech mobile transaction security
Authors: Khan Habib Ullah , Sohail Muhammad , Nazir Shah , Hussain Tariq , Shah Babar , Ali Farman 
Published: September 2023

AbstractFin-Tech is the merging of finance and technology, to be considered a key term for technology-based financial operations and money transactions as far as Fin-Tech is concerned. In the massive field of business, mobile money transaction security is a great challenge for researchers. The user authentication schemes restrict the ability to enforce the authentication before the account can access and operate. Although authentication factors provide greater security than a simple static password, financial transactions have potential drawbacks because cybercrime expands the opportunities for fraudsters. The most common enterprise challenge is mobile-based user authentication during transactions, which addresses the security issues against fraudsters. The confirmation of a user legitimation before the money transaction is highlighted by mechanisms and technologies from previous studies that may be helpful in user authentication. This study aims to identify the technologies for user authentication and the opportunity for their transformation to mobile money transaction security despite having all the legally required data for a transaction. This proposed review has identified the role of multifactor authentication techniques for authentication to mitigate the risk of fraudulent transactions—the analysis through 92 articles taken from famous publishers. The most relevant articles address authentication problems, of which 54 percent describe money transaction security, and the rest highlight the supporting technology for user authentication. The study platform described the technology-based approaches with the appreciation of new ideas for secure money transactions. The QR code and multifactor authentication are key terms that increased security by 46%. In addition, this also ensures the user is legitimate using advanced technologies and algorithms to predict and discover transaction risks and discourage fraudsters from trying.
Variation in claw morphology among the digits of Bent-toed geckos (Cyrtodactylus: Gekkota: Gekkonidae)
Authors: Riedel Jendrian , Klemm Melinda , Higham Timothy , Grismer L. Lee , Ziegler Thomas , Russell Anthony , Rödder Dennis , Reinhold Klaus 
Published: September 2023

Abstract
Background
Ecomorphological studies of lizards have increasingly employed comparison of claw morphology among species in relation to spatial niche use. Typically, such studies focus on digit IV of the autopodia, especially the pes. Uniformity of claw morphology among digits is more often implicitly assumed than tested.

Results
Using four species of Cyrtodactylus, comprising two generalist and two scansorial taxa that use different substrates, we examined whether claw morphology is uniform among digits and among species. We found that, within each species, ventral claw curvature is uniform across all digits whereas there are small but insignificant differences in ventral claw length and claw depth. The claws of the pes of each species are longer and deeper than those of the corresponding digits of the manus. The claw of digit I of each species is significantly shorter and shallower on both autopodia compared to those on digits IV and V (digit I, including its claw, is idiosyncratically variable among lizards in general).

Conclusions
We conclude that digit IV is an adequate representative of claw form in each species and exhibits variation among species, thereby serving as an exemplar for use in studies of potential discrimination between ecomorphological types in studies of Cyrtodactylus.
Nutrition interventions to address nutritional problems in HIV-positive patients: translating knowledge into practice
Authors: Rezazadeh Leila , Ostadrahimi Alireza , Tutunchi Helda , Naemi Kermanshahi Mohammad , Pourmoradian Samira 
Published: September 2023

Abstract
Background
Human immunodeficiency virus (HIV) infection and malnutrition negatively reinforce each other. Malnutrition leads to further immune deficiency and accelerates disease progression. The present overview aimed to investigate the current knowledge from review articles on the role of nutrition interventions as well as food and nutrition policies on HIV-related outcomes in adults to present future strategies for strengthening food and nutrition response to HIV.

Methods
We searched PubMed/Medline, Scopus, Embase, ProQuest, and Ovid databases using the relevant keywords. The search was limited to studies published in English until April 2022. All types of reviews studies (systematic review, narrative review, and other types of review studies) which evaluated the impact of nutritional program/interventions on HIV progression were included.

Results
Although nutrition programs in HIV care have resulted in improvements in nutritional symptoms and increase the quality life of HIV patients, these programs should evaluate the nutritional health of HIV-infected patients in a way that can be sustainable in the long term. In additions, demographic, clinical, and nutritional, social characteristics influence nutritional outcomes, which provide potential opportunities for future research.

Conclusion
Nutrition assessment, education and counseling, and food supplements where necessary should be an integral part of HIV treatment programs.
Systemic screening of Fusarium oxysporum candidate effectors reveals FoSSP17 that suppresses plant immunity and contributes to virulence
Authors: Wang Tian , Xu Yun , Zhao Yang , Liang Xiaofei , Liu Shuang , Zhang Yufang , Kang Zhensheng , Chen Daipeng , Zheng Li 
Published: September 2023

AbstractFusarium oxysporum f. sp. cubense (Foc) causes Fusarium wilt of banana (Musa spp.), a notorious soil-borne vascular fungal disease threatening the global banana industry. Phytopathogens secrete effectors to suppress plant immunity. However, little is known about the effectors of Foc race 4 (Foc4). In this study, we built a streamlined screening system (candidate effector prediction, RNA-seq-based expression level analysis, and cell death manipulative activity assessment based on transient expression in Nicotiana benthamiana) to identify candidate virulence-related effectors. In total, 80 candidate effector genes (CEGs) differentially expressed during plant colonization were predicted; 12 out of 15 characterized CEGs, including FoSSP17, could suppress BAX-triggered programmed cell death (PCD) in N. benthamiana and were induced during the infection of plants. FoSSP17 encodes a novel protein conserved in the Fusarium genus. FoSSP17 gene deletion mutants were not affected in vegetative growth and conidiation but showed reduced virulence. Furthermore, the deletion mutants triggered higher expression levels of host defense-related genes including PR1, PR3, PR5, and PR10. Signal peptide activity assay and subcellular localization assay suggested that FoSSP17 is a conventional secretory protein that exerts cell-death-suppressive activity inside plant cells. In addition, FoSSP17 suppressed pattern-triggered immunity in plants by inhibiting reactive oxygen species (ROS) accumulation, reducing callose deposition, and suppressing the expression of NbLOX and NbERF1 genes related to jasmonic acid (JA)-pathway and ethylene (ET)-pathway, respectively. Overall, a systemic screening of Foc4 candidate effectors reveals that FoSSP17 contributes to the virulence of Foc4 and suppresses pattern-triggered immunity in plants.
Geophysical exploration strategy for Cu-Ni-Co deposits in China: A review
Authors: Guoqiang Xue , Nannan Zhou , Benxun Su , Aikui Zhang , Yanchen Yang , Jiangping Mo , Xin Wu 
Published: September 2023

Nickel (Ni) and Cobalt (Co) deposits are important mineral resources, and China is the largest consumer of these resources. Magmatic, hydrothermal, sedimentary, and meta-sedimentary ore-bearing rocks are the most significant Co-Ni deposit types in China, accounting for 98% of the Co production. Thus, exploring the Chinese Co-Ni resources and reserves is beneficial for promoting its economic development. We have analyzed the metallogenetic geologic model and the physical characteristics of the rocks and ores of magmatic Co-Ni sulfide and hydrothermal Cu-Co deposits and the sedimentary and meta-sedimentary rocks that host the Cu-Co ore deposits to develop an effective geophysical exploration technology system. For magmatic deposits, the small ore-forming intrusion is the main detection target; in general, gravity, magnetic, and seismic exploration and artificial-source electromagnetic methods are widely used to determine the precise location of the ore-forming intrusion. For hydrothermal deposits, ore-controlling structures and favorable positions for mineralization (e.g., alteration belts) are the main exploration targets, and the combination of hyperspectral remote sensing, gravity, magnetic-excitation, chemical prospecting, and artificial-source electromagnetic detection techniques can help locating such ore body types. For sedimentary and meta-sedimentary ore-bearing deposits, a combination of soil debris geochemical exploration measurement, induced polarization (IP) scanning, gravity method, IP sounding, and the transient electromagnetic method has been used to scan and locate the ore-controlling and ore-bearing layers. Finally, upon selecting the Xiarihamu magmatic Co-Ni deposit in the East Kunlun orogenic belt as our study area, we have conducted controlled-source electromagnetic exploration and obtained reliable results. Our study can serve as a reference for determining the most effective geophysical technique for the exploration of Cu-Ni-Co deposits in China.