bluuebunny/crossref_metadata_2025_split huggingface dataset:
Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease
Authors: Lao Thuan Duc , Le Thuy Ai Huyen 
Published: November 2024

Background: ATP7B (ATPase copper transporting beta gene) is constituted of 21 exons, and codes for a 1465 amino acid. The protein of ATP7B plays an key role of copper metabolism. Many previous reports indicated that mutations in ATP7B are well known to cause defective copper transporting copper-transporting ATPase 2 protein leading to the accumulation of copper, resulting the Wilson disease. Objectives: The meta-analysis was performed to comprehensive gain a thorough grasp of the spectrum of genetic variations. Design: A meta-analysis was conducted according to the guiding of PRISMA. aiming to assess the diversity and frequency of mutations in the ATP7B gene, with an emphasis on mutations located within specific exons. Data sources and methods: The dataset of detected mutations within their positions, types as well as nomenclature, were recorded from previous studies (spanning the year from 2013 to 2023). The analysis focused on exon-specific variations and their prevalence across different populations. Results: A total of 40 studies were enrolled into current data analysis. Our comprehensive study revealed a variety of mutations, most notably over 50% of single nucleotide changes described, distributed over the 21 exons of the gene. Focusing on the exon 8, itisplayed the most diversity of mutations, with 18 studies identifying 53 unique variants, the majority of which were missense mutations (81.13%). Additionally, the variations c.2333G>A/T (p.R778Q/L), c.2305A>G (p.M769V), c.2336G>A (p.W779*), and c.2304dupC (p.M769HfsX26) are reported in many populations. The weighted mean of variants’ proportion was used to calculate the pooled estimate of these percentages, which were 14.19% for c.2333G>A/T (p.R778Q/L), 2.70% for c.2305A>G (p.M769V), 1.42% for c.2336G>A (p.W779*), and 2.33% for c.2304dupC (p.M769HfsX26). Conclusion: This design demonstrate to identify the spectrum of ATP7B gene’s mutations, especially exon 8, offering important insights into the prevalence and significance of exon 8 mutations. Understanding the mutation in the ATP7B gene offers insights into the mechanisms behind WD and guides strategies for diagnosis and treatment.
Role of SGLT-2 Inhibitors in Ultrafiltration Failure in Peritoneal Dialysis: A Narrative Review
Authors: Riedl Khursigara Magdalena , Liu Ping , Kaur Reetinder , Mavrakanas Thomas A. 
Published: November 2024

Purpose of review: Sodium-glucose co-transporter-2 (SGLT-2) inhibitors are glucose lowering agents with protective effects on cardiovascular health and the ability to slow chronic kidney disease (CKD) progression. The benefits of SGLT-2 inhibitors have not been studied in patients with advanced CKD or on maintenance dialysis. Ultrafiltration failure is a common reason for failure of peritoneal dialysis (PD). Glucose transporters, such as SGLT-2, are involved in the progression to ultrafiltration failure, and hence, SGLT-2 inhibitors might be beneficial in patients on PD to prevent ultrafiltration failure. Source of information: Here, we review data from animal models and ongoing clinical trials of SGLT-2 inhibitors in advanced CKD, as well as considerations for a phase III trial in patients on PD. Methods: A literature search was conducted and information on clinical trials was obtained from clinicaltrials.gov. Key findings: Animal models of PD have shown upregulation of glucose transporters in the peritoneal membrane and a potential effect of SGLT-2 inhibitors on glucose absorption and ultrafiltration. Several clinical trials are currently ongoing with SGLT-2 inhibitors in patients on PD. We discuss their study designs and propose a mixed-methods, patient-centered approach to studying SGLT-2 inhibitors in PD patients. We also discuss the potential implications of SGLT-2 inhibitors on people living with kidney failure, especially in remote communities.
Use of intranasal povidone-iodine packing in the management of infectious rhinosinusitis in three cats
Authors: Sorrentino Paul J , MacArthur Sandra L 
Published: November 2024

Case series summary Described are three cats diagnosed with rhinosinusitis secondary to Mycobacterium bouchedurhonense, Aspergillus species and Alternaria species, respectively. Medical records were retrospectively reviewed to identify cats with decreased nasal airflow and mucopurulent discharge that failed to improve on antibiotic therapy of 3 months or longer duration. Surgical debridement was followed by nasal packing using 5% povidone-iodine saturated umbilical tape, which was replaced at 24 h postoperatively. At 48 h postoperatively, the rhinotomy site was closed. Systemic therapy continued in the postoperative period. All cases were minimally responsive to previous medical management. History, signalment, clinical signs, diagnostic findings, treatment, and short- and long-term outcomes were retrieved. All cats were middle-aged with outdoor access and had clinical signs that commenced during the summer months. CT revealed turbinate destruction and soft tissue densities within the nasal passages. The otic apparatuses and calvaria were intact in all cats before surgery. A repeat CT examination revealed an improvement of the proliferative tissue identified in preoperative imaging in all cases. All cats achieved successful interruption of nasal discharge and restoration of nasal airflow with follow-up times of up to 16 months postoperatively. Relevance and novel information To the authors’ knowledge, this is the first report of the use of intranasal povidone-iodine packing in cats for the management of infectious rhinosinusitis. Surgical debridement and intranasal packing in addition to systemic therapy were successful in restoring nasal airflow and resolving nasal discharge in all cats with long-term follow-up.
Assessing the accuracy and clinical utility of GPT-4O in abnormal blood cell morphology recognition
Authors: Cai Xinjian , Zhan Lili , Lin Yiteng 
Published: November 2024

Objectives To evaluate the accuracy and clinical utility of GPT-4O in recognizing abnormal blood cell morphology, a critical component of hematologic diagnostics. Methods GPT-4O's blood cell morphology recognition capabilities were assessed by comparing its performance with hematologists. A total of 70 images from the Chinese National Center for Clinical Laboratories, External Quality Assessment (EQA) from 2022 to 2024 were analyzed. Two experienced hematology experts evaluated GPT-4O's recognition accuracy using a Likert scale. Results GPT-4O achieved an overall accuracy of 70% in blood cell morphology recognition, significantly lower than the 95.42% accuracy of hematologists (p < 0.05). For peripheral blood smears and bone marrow smears, GPT-4O's accuracy was 77.14% and 62.86% respectively. Likert scale evaluations revealed further discrepancies, with GPT-4O scoring 288.50 out of 350, compared to higher manual scores. GPT-4O accurately recognized certain intracellular inclusions such as Howell-Jolly bodies and Auer rods, while it misidentified fragmented red blood cells as neutrophilic metamyelocytes and oval-shaped red blood cells as sickle cells. Additionally, GPT-4O had difficulty accurately identifying intracellular granules and distinguishing cell nuclei and cytoplasm. Conclusion GPT-4O's performance in recognizing abnormal blood cell morphology is currently inadequate compared to hematologists. Despite its potential as a supplementary tool, significant improvements in its recognition algorithms and an expanded dataset are necessary for it to be reliable for clinical use. Future research should focus on enhancing GPT-4O's diagnostic accuracy and addressing its current limitations.
Impact of a Pediatric Produce Prescription Intervention on Food Security and Perceived Nutrition-Related Behaviors: A Mixed-Methods Study
Authors: Muleta Hemen , Fischer Laura , Ali Qadira , Menezes Shannon , Kim Noah , Minkah-Premo Emily , Essel Kofi 
Published: November 2024

Objectives: Poor Food security (FS) is associated with risk of diet-related diseases and rising healthcare costs. Produce Prescription Interventions (PRx) are emerging clinical tools to improve FS and diet quality, but their impact in families with children is not well established. This study evaluates the impact of a pediatric PRx on FS and nutrition-related behaviors. Methods: Adult caregivers of children (0-18) were enrolled within a 6-month produce delivery and nutrition education intervention. A validated food security survey was administered pre/post intervention to determine FS scores and “Food Secure” status. Statistical analyses tested pre-post differences in FS scores and proportion of scores within the “Food Secure” range. Semi-structured interviews were performed post-intervention to explore families’ experiences with low FS and healthy behaviors and were thematically analyzed. Results: Between October 2021 and December 2022, 82 families were enrolled, 65 completed FS survey at baseline and 54 completed it at post-intervention. FS scores improved post-intervention ( P < .05) and a greater proportion of household- and child-level scores fell within the “Food Secure” range post-intervention ( P < .05). Twenty-eight interviews were analyzed. Three salient themes were identified: (1) value of healthcare-based screening and intervention, (2) food and education motivate behavior change, and (3) perceptions of post-intervention lifestyle sustainability. Conclusions: Participation in the PRx was associated with improvements in FS and nutrition-related attitudes and behaviors. PRx can be implemented by health systems to improve FS and health behaviors associated with risk for diet-related diseases. Longer-term support may be needed to maintain healthy behavior changes associated with PRx participation.
Analyzing diversity trends in dermatology: A comprehensive overview
Authors: Mayo Michael , Ratnayake Isuru , Pepper Sam , Rahman Mohammod Mahmudur , Talukder Md. Robiul Islam , McGuirk Matthew , Martinez Joshua , Cardones Adela Rambi , Wick Jo , Mudaranthakam Dinesh Pal 
Published: November 2024

Background: Dermatology lags behind other medical specialties in workforce diversity, particularly regarding gender, race, and ethnicity. This study aims to analyze the current demographics of dermatology physicians in the United States, comparing them with other medical specialties, the overall population of practicing U.S. physicians, and the U.S. population as a whole. Design and Method: Data from the Association of American Medical Colleges and the U.S. Census Bureau (2007–2022) were used to evaluate gender, racial, and ethnic diversity within dermatology. Demographic factors analyzed included gender, race, and ethnicity, with racial categories grouped as White, Asian, and underrepresented minorities in medicine (URiM). Chi-square tests assessed the fit of gender and age distributions with population proportions, while linear regression models examined trends over time. Results: From 2007 to 2021, the number of dermatologists grew by 22.9%, with a corresponding decrease in population per dermatologist, indicating growth relative to the general population. The proportion of female dermatologists rose by 68.1% during this period, while the male proportion declined by 5.1%. From 2019 to 2022, a significant linear increase (p < 0.001) in URiM representation among dermatology residents was observed, with a model-predicted annual increase of 1.6%. Conclusions: The increasing diversity in dermatology may be attributed to initiatives such as scholarships and mentorship programs implemented by dermatology organizations and residency programs. By fostering a more diverse workforce, dermatology can better address the healthcare needs of a diverse population and promote health equity across all demographics.
Development of a Framework of Leadership in Academic Medicine (FLAM)
Authors: Dash Nihar Ranjan , Koutaich Rim , Al Khalaf Heba Awad , Hani Mohammad Jasem , Koutaich Rayan , Guraya Salman Yousuf 
Published: November 2024

OBJECTIVES Leadership within medical academic institutions often adheres to hierarchical structures, relying on factors like seniority and context, with limited focus on leadership development. This study aims to develop a structured framework by examining the traits, aspirations, and pre-requisites of academic leaders within medical school faculties. METHODS A cross-sectional study collected input from regular medical faculty and those in leadership roles through an online questionnaire, followed by quantitative and qualitative analyses. Data was curated, analyzed, and triangulated to establish subdomains, domains, and themes for the framework. RESULTS Among 229 respondents, 121 held formal academic leadership roles, the remaining 108 were regular medical faculty. And 92% of regular faculty cited lack of experience and training as significant barriers to effective leadership. Both groups agreed on the need for intensive leadership training, as 85% of leaders and 66% of regular faculty lacked formal academic leadership training. The concept of affiliative leadership was favored by 45% of leaders. Qualitative analysis and subtheme triangulation led to the development of the 6 Es Framework for Leadership in Academic Medicine (FLAM). This framework encompasses: ethics (accountability and role modeling), education (structured curriculum and training), envision (clear path and talent identification), engagement (structural foundation and attainable goals), empowerment (fostering passion), and encouragement (financial incentives). CONCLUSION This research reinforces the necessity of structured leadership development in academic medicine. The unique attributes of the 6Es FLAM have the potential to enhance leadership in this field.
Long COVID and recovery from Long COVID: quality of life impairments and subjective cognitive decline at a median of 2 years after initial infection
Authors: Szewczyk Warren , Fitzpatrick Annette L. , Fossou Herve , Gentile Nicole L. , Sotoodehnia Nona , Vora Surabhi B. , West T. Eoin , Bertolli Jeanne , Cope Jennifer R. , Lin Jin-Mann S. , Unger Elizabeth R. , Vu Quan M. 
Published: November 2024

Abstract
Background
Recovery from SARS CoV-2 infection is expected within 3 months. Long COVID occurs after SARS-CoV-2 when symptoms are present for more than 3 months that are continuous, relapsing and remitting, or progressive. Better understanding of Long COVID illness trajectories could strengthen patient care and support.

Methods
We characterized functional impairments, quality of life (QoL), and cognition among patients who recovered from SARS-CoV-2 infection within 3 months (without Long COVID), after 3 months (Recovered Long COVID), or remained symptomatic (Long COVID). Among 7305 patients identified with previous SARS-CoV-2 infection between March 2020 and December 2021, confirmed in the medical record with laboratory test or physician diagnosis, 435 (6%) completed a single self-administered survey between March 2022 and September 2022. Multi-domain QoL and cognitive concerns were evaluated using PROMIS-29 and the Cognitive Change Index-12.

Results
Nearly half the participants (47.7%) were surveyed more than 2 years from initial infection (median = 23.3 months; IQR = 18.6, 26.7) and 86.7% were surveyed more than 1 year from infection. A significantly greater proportion of the Long COVID (n = 215) group, (Current and Recovered combined), had moderate-to-severe impairment in all health domains assessed compared to those Without Long COVID (n = 220; all p < 0.05). The Recovered Long COVID group (n = 34) had significantly lower prevalence of fatigue, pain, depression, and physical and social function impairment compared to those with Current Long COVID (n = 181; all p < 0.05). However, compared to patients Without Long COVID, the Recovered Long COVID group had greater prevalences of fatigue, pain (p ≤ 0.06) and subjective cognitive decline (61.8% vs 29.1%; p < 0.01). Multivariate relative risk (RR) regression indicated Long COVID risk was greater for older age groups (RR range 1.46–1.52; all p ≤ 0.05), those without a bachelor’s degree (RR = 1.33; 95% CI = 1.03–1.71; p = 0.03), and those with 3 or more comorbidities prior to SARS-CoV-2 infection (RR = 1.45; 95% CI = 1.11–1.90; p < 0.01).

Conclusions
Long COVID is associated with long-term subjective cognitive decline and diminished quality of life. Clinically significant cognitive complaints, fatigue, and pain were present even in those who reported they had recovered from Long COVID. These findings have implications for the sustainability of participation in work, education, and social activities.
HTLV infection in urban population from Mato Grosso do Sul, Central Brazil
Authors: Amianti Carolina , Bandeira Larissa Melo , Cardoso Wesley Marcio , da Silva Andréia Souza Pinto , de Jesus Milena da Silva , Ibañez Rodrigo , Freitas Felipe Bonfim , Uehara Silvia Naomi de Oliveira , Vallinoto Izaura Maria Vieira Cayres , Vallinoto Antonio Carlos Rosário , Motta-Castro Ana Rita Coimbra 
Published: November 2024

Abstract
Background
Brazil has the highest number of HTLV-1 infection in Latin America, with around one million cases spread unevenly across regions. However, there is a limited number of studies on this infection in the general population. This cross-sectional study aimed to estimate the prevalence of HTLV as well as identify types, and subtypes of HTLV among the urban population of Campo Grande, capital of Mato Grosso do Sul state (MS).

Results
Between July 2023 and March 2024, all information was obtained from self-reported interviews, and blood samples were collected and screened for anti-HTLV-1/2 by immunoassay and confirmed using the immunoblot method. The proviral DNA of HTLV-1/2 in positive samples was quantified by real-time PCR (qPCR) and genotyped by nucleotide sequencing (Sanger’s method). The study enrolled 611 participants, with the majority being women (90.54%), mixed race (46.32%), heterosexual (87.64%), and with a median age of 39 years. The prevalence rate of anti-HTLV-1 infection was 0.82% (CI 95% 0.34–1.96). All positive samples (n = 5) were identified as belonging to the Cosmopolitan subtype, one belonging to Japanese and four to Transcontinental subgroups. Among the five positive individuals, two presented symptoms associated with HTLV-1 infection.

Conclusion
This study highlights an intermediate prevalence of HTLV-1 in the urban population of Campo Grande, Mato Grosso do Sul, and provides epidemiological information that could help bridge the gaps in the distribution of HTLV in the general population. Also, medical care was provided for individuals presenting clinical manifestations who were previously unaware of their serological status.
Construction of multilayered gene circuits using de-novo-designed synthetic transcriptional regulators in cell-free systems
Authors: Zhao Mingming , Kim Jeongwon , Jiao Jiayan , Lim Yelin , Shi Xianai , Guo Shaobin , Kim Jongmin 
Published: November 2024

Abstract
Background
De-novo-designed synthetic transcriptional regulators have great potential as the genetic parts for constructing complex multilayered gene circuits. The design flexibility afforded by advanced nucleic acid sequence design tools vastly expands the repertoire of regulatory elements for circuit design. In principle, the design space of synthetic regulators should allow for the construction of regulatory circuits of arbitrary complexity; still, the orthogonality and robustness of such components have not been fully elucidated, thereby limiting the depth and width of synthetic circuits.

Results
In this work, we systematically explored the design strategy of synthetic transcriptional regulators, termed switchable transcription terminators. Specifically, by redesigning key sequence domains, we created a high-performance switchable transcription terminator with a maximum fold change of 283.11 upon activation by its cognate input RNA. Further, an automated design algorithm was developed for these elements to improve orthogonality for a complex multi-layered circuit construction. The resulting orthogonal switchable transcription terminators could be used to construct a three-layer cascade circuit and a two-input three-layer OR gate.

Conclusions
We demonstrated a practical strategy for designing standardized regulatory elements and assembling modular gene circuits, ultimately laying the foundation for the streamlined construction of complex synthetic gene circuits.
Sustainable and efficient monitoring of tryptophan and tyrosine serum levels: a green HPTLC method as a biomarker for type 2 diabetes
Authors: Kamel Rania M. , Abdel-aal Fatma A. M. , Mohamed Fardous A. , Mohamed Abdel-Maaboud I. 
Published: November 2024

AbstractIn recent years, there has been considerable interest in using amino acids like tryptophan (Trp) and tyrosine (Tyr) as biomarkers for various diseases, including type 2 diabetes mellitus (T2D). In diseases like T2D, the metabolism of Trp and Tyr is altered. The activity of enzymes involved in Trp metabolism increases, leading to a decrease in its serum level. On the other hand, the serum level of Tyr increases due to the suppressed activity of its metabolizing enzymes. These observations suggest that Trp and Tyr metabolism may play a crucial role in the pathophysiology of type 2 diabetes. Our study highlights the potential utility of Trp and Tyr as biomarkers for the early detection, prognosis, and monitoring of this metabolic disorder. Given these observations, we aimed to develop a high-performance thin-layer chromatographic (HPTLC) method that is sensitive, selective, rapid, and environmentally friendly for estimating the concentrations of Trp and Tyr in biological fluids, particularly serum samples. To evaluate the method, we performed analysis using serum samples from controlled and streptozotocin-induced diabetic rats. Our main objective was to develop a method that is sensitive and selective for precisely determining Trp and Tyr serum levels, which could serve as potential biomarkers for T2D. Fluorescence and absorption modes were employed for densitometry scanning. We assessed the precision and high separation efficiency of the chromatographic system by calculating parameters such as separation and resolution factors, number of theoretical plates, and height equivalent to theoretical plates. To evaluate the environmental impact of our proposed method, we employed the AGREE (Analytical GREEnness metric) and GAPI (Green Analytical Procedure Index) greenness assessment tools. The results confirmed that our method is environmentally friendly and exhibits superior eco-friendliness and greenness compared to other reported methods.
Graphical Abstract