bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prioritisation of emerging and epidemic-prone diseases and risk factors in India’s three western states using the One Health Risk and Disease (OHRAD) prioritisation tool
Authors: Yasobant Sandul , Lekha K. Shruti , Patil Shailee , Bhavsar Priya , Tadvi Ravina , Patel Krupali , Falkenberg Timo , Bruchhausen Walter , Saxena Deepak 
Published: July 2024

Abstract
Background
There have been numerous outbreaks of infectious diseases to date, and out of them, six events have been declared as Public Health Emergencies of International Concern by the World Health Organization (WHO). The outbreaks have been unprecedented, and the sudden anxiety associated with these makes the situation more complicated. Prioritisation of diseases has been a common process in public health, and it is important to identify infectious diseases that are important for human health. In addition, a One Health approach requires taking also animal origin and related risk factors for infectious diseases into account.

Methods
State-level co-creation workshops were conducted in Gujarat, Rajasthan, and Maharashtra, the three western states of India. One Health Risk and Disease (OHRAD) prioritisation tool was used to prioritise emerging and epidemic-prone diseases and their risk factors.

Results
The risk factors and diseases were scored using the OHRAD tool, and the ranks were obtained. Avian flu by A(H5N1), A(H7N9), and A(H9N2), swine flu by A(H1N1), A(H1N2) and A(H3N2), dengue, rabies, leptospirosis, bovine tuberculosis, salmonellosis, chikungunya, soil-transmitted helminths, and brucellosis were some of the 10 diseases prioritised in all the three western states of the country. Similarly, the presence of mosquito breeding sites near houses or workplaces, open defecation, poor hand hygiene, poor personal hygiene, reluctance to follow disease prevention measures and improper carcass disposal were prioritised as the risk factors for diseases in all three states.

Conclusion
The emerging and epidemic-prone diseases and risk factors that are prioritised reflect state-specific scenarios and the gravity of the situation concerning risk factors for disease outbreaks. This can help in allocating resources and increasing efforts in the prevention and control of these diseases.
The prognosis of iatrogenic saphenous nerve injuries during hamstring tendon harvesting in anterior cruciate ligament reconstruction
Authors: Egerci Omer Faruk , Dogruoz Fırat , Asoglu Mehmet Melih , Ertan Mehmet Barıs , Yapar Aliekber , Kose Ozkan 
Published: July 2024

Abstract
Purpose
This study aims to evaluate the long-term outcomes of saphenous nerve (SN) injuries from hamstring tendon harvesting during ACL reconstruction, focusing on clinical results and patient satisfaction after at least two years. Additionally, it investigates the incidence, recovery patterns, and impact of these injuries on functional outcomes, daily activities, and ACL re-rupture rates immediately post-surgery and at final follow-up.

Materials and methods
A retrospective review was conducted on patients who had undergone ACL reconstruction with hamstring tendon grafts at a single institution between January 2015 and January 2020. The incidence of SN injuries was assessed immediately after surgery and at final follow-up. Additionally, the recovery rate and time were evaluated, and the impact of these injuries on functional outcomes was measured using the Lysholm Knee Score (LKS) and patient-reported effects on daily activities.

Results
Of the 159 patients analyzed, iatrogenic SN injuries were initially observed in 87 (54.7%) patients post-ACLR. By the final follow-up, paresthesia had resolved in 36 (22.6%) patients within an average of 11.1 months. Persistent SN injuries were recorded in 51 (32.1%) patients, affecting various extents of the infrapatellar branch (IPBSN) and the sartorial branch (SBSN) of the saphenous nerve. Patients with persistent SN injuries experienced a significant impact on daily activities and had lower LKS scores compared to those without injuries or with recovered injuries. Furthermore, a higher re-rupture rate was associated with persistent SN injuries.

Conclusions
The study finds that SN injuries during hamstring graft harvesting for ACL reconstruction are common, with a significant portion of patients experiencing persistent sensory deficits for at least two years postoperatively. These injuries are observed to adversely affect patient satisfaction and functional outcomes and to increase the re-rupture rate.
Genomic profiling and comparative analysis of male versus female metastatic breast cancer across subtypes
Authors: Kadamkulam Syriac Arun , Nandu Nitish Singh , Clark Allison , Tavallai Mehrad , Jin Dexter X. , Sokol Ethan , McGregor Kimberly , Ross Jeffrey S. , Danziger Natalie , Leone Jose Pablo 
Published: July 2024

Abstract
Background
Male breast cancer (MaBC) has limited data on genomic alterations. We aimed to comprehensively describe and compare MaBC’s genomics with female breast cancer’s (FBC) across subtypes.

Methods
Using genomic data from Foundation Medicine, we categorized 253 MaBC into estrogen receptor (ER)-positive/human epidermal growth factor receptor 2 (HER2)-negative (n = 210), ER-positive/HER2-positive (n = 22) and triple-negative (n = 20). One ER-negative/HER2-positive case was excluded due to n-of-1. The genomics of the final MaBC cohort (n = 252) were compared to a FBC cohort (n = 2708) stratified by molecular subtype, with adjusted p-values. In the overall MaBC and FBC cohorts, we compared mutational prevalence in cancer susceptibility genes (CSG) (ATM/BRCA1/BRCA2/CHEK2/PALB2).

Results
Comparing ER-positive/HER2-negative cases, MaBc had increased alterations in GATA3 (26.2% vs. 15.9%, p = 0.005), BRCA2 (13.8% vs. 5.3%, p < 0.001), MDM2 (13.3% vs. 6.14%, p = 0.004) and CDK4 (7.1% vs. 1.8%, p < 0.001); and decreased frequency of TP53 (11.0% vs. 42.6%, p < 0.001) and ESR1 mutations (5.7% vs. 14.6%, p < 0.001). Comparing ER-positive/HER2-positive cases, MaBC had increased short variants in ERBB2 (22.7% vs. 0.6%, p = 0.002), GATA3 (36.3% vs. 6.2%, p = 0.004), and MDM2 (36.3% vs. 4.9%, p = 0.002); decreased frequency of TP53 alterations was seen in MaBC versus FBC (9.1% vs. 61.7%, p < 0.001). Within triple-negative cases, MaBC had decreased alterations in TP53 compared to FBC (25.0% vs. 84.4%, p < 0.001). MaBC had higher frequency of CSG variants than FBC (22.6% vs. 14.6%, p < 0.05), with increased BRCA mutations in MaBC (14.6% vs. 9.1%, p < 0.05).

Conclusions
Although MaBC and FBC share some common alterations, our study revealed several important differences relevant to tumor biology and implications for targeted therapies.
Improving Diabetes Equity and Advancing Care (IDEA) to optimize team-based care at a safety-net health system for Black and Latine patients living with diabetes: study protocol for a sequential, multiple assignment, randomized trial
Authors: Jacobs Jacquelyn , Labellarte Patricia , Margellos-Anast Helen , Garcia Lizbeth , Qeadan Fares , Tingey Benjamin , Barnick Kelsey , Dougherty Alyn , Wagener Christina 
Published: July 2024

Abstract
Background
Diabetes is the eighth leading cause of death in the USA. Inequities driven by structural racism and systemic oppression have led to racial/ethnic disparities in diabetes prevalence, diagnosis, and treatment. Diabetes-self management training (DSMT), remote glucose monitoring (RGM), and tailored support from a community health worker (CHW) have the potential to improve outcomes. This study will examine the implementation of these interventions in a safety-net healthcare setting.

Methods
Using implementation science and racial equity principles, this study aims to (1) evaluate the appropriateness; (2) measure fidelity; and (3) compare the effectiveness of varying the combination and sequence of three interventions. An exploratory aim will measure sustainability of intervention adherence and uptake. This mixed-methods trial employs a sequential, multiple assignment randomized trial (SMART) design, patient focus group discussions, and staff interviews. Eligible Black/Latine patients will be recruited using patient lists extracted from the electronic medical record system. After a detailed screening process, eligible patients will be invited to attend an in-person enrollment appointment. Informed consent will be obtained and patients will be randomized to either DSMT or RGM. At 6 months, patients will complete two assessments (diabetes empowerment and diabetes-related distress), and HbA1c values will be reviewed. “Responders” will be considered those who have an HbA1c that has improved by at least one percentage point. “Responders” remain in their first assigned study arm. “Nonresponders” will be randomized to either switch study arms or be paired with a CHW. At 6 months participants will complete two assessments again, and their HbA1c will be reviewed. Twelve patient focus groups, two for each intervention paths, will be conducted along with staff interviews.

Discussion
This study is the first, to our knowledge, that seeks to fill critical gaps in our knowledge of optimal sequence and combinations of interventions to support diabetes management among Black and Latine patients receiving care at a safety-net hospital. By achieving the study aims, we will build the evidence for optimizing equitable diabetes management and ultimately reducing racial and ethnic healthcare disparities for patients living in disinvested urban settings.

Trial registration
ClinicalTrials.gov: NCT06040463. Registered on September 7, 2023.
Neph1 is required for neurite branching and is negatively regulated by the PRRXL1 homeodomain factor in the developing spinal cord dorsal horn
Authors: Baltar João , Miranda Rafael Mendes , Cabral Maria , Rebelo Sandra , Grahammer Florian , Huber Tobias B. , Reguenga Carlos , Monteiro Filipe Almeida 
Published: July 2024

AbstractThe cell-adhesion molecule NEPH1 is required for maintaining the structural integrity and function of the glomerulus in the kidneys. In the nervous system of Drosophila and C. elegans, it is involved in synaptogenesis and axon branching, which are essential for establishing functional circuits. In the mammalian nervous system, the expression regulation and function of Neph1 has barely been explored. In this study, we provide a spatiotemporal characterization of Neph1 expression in mouse dorsal root ganglia (DRGs) and spinal cord. After the neurogenic phase, Neph1 is broadly expressed in the DRGs and in their putative targets at the dorsal horn of the spinal cord, comprising both GABAergic and glutamatergic neurons. Interestingly, we found that PRRXL1, a homeodomain transcription factor that is required for proper establishment of the DRG-spinal cord circuit, prevents a premature expression of Neph1 in the superficial laminae of the dorsal spinal cord at E14.5, but has no regulatory effect on the DRGs or on either structure at E16.5. By chromatin immunoprecipitation analysis of the dorsal spinal cord, we identified four PRRXL1-bound regions within the Neph1 introns, suggesting that PRRXL1 directly regulates Neph1 transcription. We also showed that Neph1 is required for branching, especially at distal neurites. Together, our work showed that Prrxl1 prevents the early expression of Neph1 in the superficial dorsal horn, suggesting that Neph1 might function as a downstream effector gene for proper assembly of the DRG-spinal nociceptive circuit.
Cutaneous leishmaniasis in sub-Saharan Africa: a systematic review of Leishmania species, vectors and reservoirs
Authors: Blaizot Romain , Pasquier Gregoire , Kone Abdoulaye Kassoum , Duvignaud Alexandre , Demar Magalie 
Published: July 2024

AbstractBackgroundCutaneous leishmaniasis (CL) is understudied in sub-Saharan Africa. The epidemiology of CL is determined by the species involved in its transmission. Our objectives were to systematically review available data on the species ofLeishmania, along with vectors and reservoirs involved in the occurrence of human cases of CL in sub-Saharan Africa, and to discuss implications for case management and future research.MethodsWe systematically searched PubMed, Scopus, Cochrane and African Index Medicus. There was no restriction on language or date of publication. The review was conducted according to PRISMA guidelines and was registered on PROSPERO (CRD42022384157).ResultsIn total, 188 published studies and 37 reports from the grey literature were included. An upward trend was observed, with 45.7% of studies published after 2010. East Africa (55.1%) represented a much greater number of publications than West Africa (33.3%). In East Africa, the identification of reservoirs forLeishmania tropicaremains unclear. This species also represents a therapeutic challenge, as it is often resistant to meglumine antimoniate. In Sudan, the presence of hybrids betweenLeishmania donovaniand strictly cutaneous species could lead to important epidemiological changes. In Ghana, the emergence of CL in the recent past could involve rare species belonging to theLeishmaniasubgenusMundinia. The area of transmission ofLeishmania majorcould expand beyond the Sahelian zone, with scattered reports in forested areas. While theL. major–Phlebotomus duboscqi–rodent complex may not be the only cycle in the dry areas of West Africa, the role of dogs as a potential reservoir forLeishmaniaspecies with cutaneous tropism in this subregion should be clarified. Meglumine antimoniate was the most frequently reported treatment, but physical methods and systemic agents such as ketoconazole and metronidazole were also used empirically to treatL. majorinfections.ConclusionsThough the number of studies on the topic has increased recently, there is an important need for intersectional research to further decipher theLeishmaniaspecies involved in human cases of CL as well as the corresponding vectors and reservoirs, and environmental factors that impact transmission dynamics. The development of molecular biology in sub-Saharan Africa could help in leveraging diagnostic and research capacities and improving the management of human cases through personalized treatment strategies.Graphical Abstract
The efficacy of custom-made offloading devices for diabetic foot ulcer prevention: a systematic review
Authors: Jones Aled Wyn , Makanjuola Abraham , Bray Nathan , Prior Yeliz , Parker Daniel , Nester Christopher , Tang Jinghua , Jiang Liudi 
Published: July 2024

Abstract
Introduction
Therapeutic offloading devices, including insoles, shoes, and other orthoses, are some of the most commonly used interventions to treat or prevent diabetic foot ulceration. Custom-made offloading devices are increasingly used to offset the development of foot ulcers. However, whether these devices are more effective than prefabricated standard offloading devices is uncertain. Therefore, this systematic review collates and examines evidence on the efficacy of custom-made offloading devices in preventing foot ulcer incidence and recurrence in people diagnosed with diabetes.

Methods
Five scientific databases were searched, covering 2011–2023. Initial searches and screening were carried out independently by two researchers. Studies meeting the inclusion criteria were further examined through additional screenings, and critical appraisal. Data relevant to the review aims were extracted and analysed within a narrative synthesis.

Results
Of the 1,715 articles found in the initial searches, nine papers were found to meet inclusion criteria and were included in the review. The evidence shows that custom-made offloading devices are likely to be more effective for reducing or preventing diabetic foot ulcers than standard offloading devices. However, due to a lack of data it remains uncertain whether custom-made offloading devices are more cost-effective for preventing ulceration compared to standard insoles. Likewise, due to measurement heterogeneity between studies and lack of data, it is unclear whether adherence is higher in users of custom-made offloading devices, and whether such devices deliver significantly greater reductions in peak pressure as compared to standard offloading devices.

Conclusion
Custom-made offloading devices are more effective than standard devices for preventing diabetic foot ulceration, and we recommended their use when feasible; however, there remains uncertainty regarding their cost-effectiveness compared to standard insoles and offloading devices.
RNA-Seq analysis of the fruiting bodies and mycelia of angel-wing mushroom Pleurocybella porrigens that cause acute encephalopathy
Authors: Watanabe Nozomu , Mitsukuni Keisuke , Sato Takumi , Zhang Jili , Ono Akiko , Suzuki Tomohiro 
Published: July 2024

Abstract
Objective
In 2004, after consuming angel-wing mushrooms, Pleurocybella porrigens, 59 incidents of food poisoning were reported in Japan. Consequently, 17 individuals died of acute encephalopathy. In 2023, we proved that a lectin, pleurocybelline, and pleurocybellaziridine from this mushroom caused damage to the brains of mice. Although we reported genomic and transcriptomic data of P. porrigens in 2013, the assembly quality of the transcriptomic data was inadequate for accurate functional annotation. Thus, we obtained detailed transcriptomic data on the fruiting bodies and mycelia of this mushroom using Illumina NovaSeq 6000.

Results
De novo assembly data indicated that the N50 lengths for the fruiting bodies and mycelia were improved compared with those previously reported. The differential expression analysis between the fruiting bodies and the mycelia revealed that 1,937 and 1,555 genes were significantly up-regulated in the fruiting bodies and the mycelia, respectively. The biological functions of P. porrigens transcripts, including PA biosynthetic pathways, were investigated using BLAST search, Gene Ontology, and Kyoto Encyclopedia of Genes and Genomes pathway analysis. The obtained results revealed L-valine, a predicted precursor of PA, is biosynthesized in the fruiting bodies and mycelia. Furthermore, real-time RT-PCR was performed to evaluate the accuracy of the results of differential expression analysis.
1H-NMR-based metabolomics reveals metabolic alterations in early development of a mouse model of Angelman syndrome
Authors: Gupta Pooja Kri , Barak Sharon , Feuermann Yonatan , Goobes Gil , Kaphzan Hanoch 
Published: July 2024

Abstract
Background
Angelman syndrome (AS) is a rare neurodevelopmental genetic disorder caused by the loss of function of the ubiquitin ligase E3A (UBE3A) gene, affecting approximately 1:15,000 live births. We have recently shown that mitochondrial function in AS is altered during mid to late embryonic brain development leading to increased oxidative stress and enhanced apoptosis of neural precursor cells. However, the overall alterations of metabolic processes are still unknown. Hence, as a follow-up, we aim to investigate the metabolic profiles of wild-type (WT) and AS littermates and to identify which metabolic processes are aberrant in the brain of AS model mice during embryonic development.

Methods
We collected brain tissue samples from mice embryos at E16.5 and performed metabolomic analyses using proton nuclear magnetic resonance (1H-NMR) spectroscopy. Multivariate and Univariate analyses were performed to determine the significantly altered metabolites in AS mice. Pathways associated with the altered metabolites were identified using metabolite set enrichment analysis.

Results
Our analysis showed that overall, the metabolomic fingerprint of AS embryonic brains differed from those of their WT littermates. Moreover, we revealed a significant elevation of distinct metabolites, such as acetate, lactate, and succinate in the AS samples compared to the WT samples. The elevated metabolites were significantly associated with the pyruvate metabolism and glycolytic pathways.

Limitations
Only 14 metabolites were successfully identified and investigated in the present study. The effect of unidentified metabolites and their unresolved peaks was not determined. Additionally, we conducted the metabolomic study on whole brain tissue samples. Employing high-resolution NMR studies on different brain regions could further expand our knowledge regarding metabolic alterations in the AS brain. Furthermore, increasing the sample size could reveal the involvement of more significantly altered metabolites in the pathophysiology of the AS brain.

Conclusions
Ube3a loss of function alters bioenergy-related metabolism in the AS brain during embryonic development. Furthermore, these neurochemical changes could be linked to the mitochondrial reactive oxygen species and oxidative stress that occurs during the AS embryonic development.
A framework for ex-ante evaluation of the potential effects of risk equalization and risk sharing in health insurance markets with regulated competition
Authors: van Kleef Richard C. , Reuser Mieke , Stam Pieter J.A. , van de Ven Wynand P.M.M. 
Published: July 2024

AbstractMany health insurance markets are organized by principles of regulated competition. Regulators of these markets typically apply risk equalization (aka risk adjustment) and risk sharing to mitigate risk selection. Risk equalization and risk sharing can have various positive and negative effects on efficiency and fairness. This paper provides a comprehensive framework for ex-ante evaluation of these effects. In a first step, we distinguish 22 potential effects. In a second step, we summarize and discuss quantitative measures used for evaluating risk equalization and risk sharing schemes in academic research. To underline the relevance of our work, we compare our framework with an existing framework that was previously used in the Dutch regulated health insurance market. We conclude that this framework is incomplete and uses inappropriate measures. To avoid suboptimal policy choices, we recommend policymakers (1) to consider the entire spectrum of potential effects and (2) to select their measures carefully.