bluuebunny/crossref_metadata_2025_split huggingface dataset:
A systematic review of genome-wide association studies on bladder cancer
Authors: Ahmad Aliyu Adamu , Muhammad Umar , Ibrahim Buhari , Kwairanga Suleiman Hamidu , Garkuwa Usman Adamu , Jabril Murtala Muhammad , Ahmad Umar , Liman Haruna Usman 
Published: August 2024

Abstract

Background
Bladder cancer (BC) is the most common cancer of the urinary tract worldwide with over 550,000 new cases each year, bladder cancer has drawn relatively limited research attention and healthcare interventions despite the escalating incidence and mortality rates, particularly in Africa. Historically, the clinical handling of bladder cancer remained largely unchanged for many years. However, novel research initiatives have heralded a fresh epoch in its diagnosis and treatment, fueled by detailed probing of molecular changes.
Aim
This study aimed to identify genetic susceptibility loci associated with bladder cancer by systematically reviewing previous Genome-Wide Association Studies (GWAS).
Methods
In line with this objective, comprehensive literature searches were conducted across PubMed, Google Scholar, and relevant genetic databases, focusing on bladder cancer GWAS studies from 2000 through to November 2022. This systematic review adhered to the robust PRISMA standards. To evaluate the credibility of the studies under scrutiny, the Newcastle-Ottawa Scale was employed, further assessing any potential bias risk.
Results
The investigation identified chromosome 18q12.3 as the most vulnerable to bladder cancer, revealing four polymorphisms at this locus: rs7238033, rs10775480, rs11082469, and rs17674580. Furthermore, chromosome 5p15.3 emerged as the second most susceptible, with three noted polymorphisms: rs2736098 and two instances of rs401681.
Conclusion
Despite these findings, our understanding of genetic predisposition to bladder cancer remains rudimentary, with the majority of substantial data deriving from GWAS. No additional genetic association evidence emerged from this systematic review. Given the relatively minor influence of our current knowledge of genetic susceptibility to bladder cancer on public health, a call for larger cohort studies is necessary. These expanded studies can potentially unveil a broader range of significant polymorphisms across the genome, thereby enhancing our understanding and approach to bladder cancer.
Evaluating Negarim Microcatchment efficiency to Conserve Soil Moisture based on Soil Depth
Authors: Kouhzad Banafshe , Yazdani Mohammad Reza , Dastorani Mohammad Taghi 
Published: August 2024

Abstract

One of the most important factors in determining the Ecohydrological balance is soil moisture content. Any variation in soil moisture, albeit insignificant, can have a chain effect on the quality of soil structure, soil particles, erosion rate, microbiological activity in soil crust, and infiltration rate. which in turn can affect ecosystem dynamics. Therefore, it is important to use more eco-friendly and less invasive techniques, such as rainwater harvesting structures (RHS), to enrich the current soil moisture content in any ecosystem. The study used an RWH structure, namely the Negarim Microcatchment, to observe its real-time effects on soil moisture variations. The continuous effect of certain treatments was also evaluated. To do this, a small area of approximately 3375 m2 in the Dehbar watershed (36 ° 18’ N, 59° 24’ E) located in Khorasan Razavi Province of Iran was selected based on the map of water harvesting potential in the watershed that was generated by GIS to construct the structures. This study aimed to evaluate the efficiency of a number of variations of RHS in retaining soil moisture its different soil depths. For this purpose, FAO’s standard measurement was used to calculate and construct three different sizes of structures for this research. FAO’s standard measurement included the 1 x 1 area for the infiltration pit which was used as the medium-sized (standard) structure. The other two structures were one time larger and one time smaller, respectively. Each size group consists of 38 Microcatchment with two treatments of natural (N) and plastic covered (P) for the catchment area and a combination of natural cover (N), seedling (S), rock cover (R), no rock cover (F), summer irrigation (W), and no summer irrigation (D) for the infiltration pits. After each significant rainfall, soil moisture measurement was measured by TDR sensors with a repetition of three times at five-day intervals throughout two crop years. The data analysis results showed that the main control factor of the structure performance was soil depth and the catchment area cover type. Comparing the three depths, the depth of 30 cm showed more significance by a margin of 10–20% over the depths of 20 cm and 10 cm. The same could be said about the difference between plastic-covered catchments and natural-covered ones at 5–10%. The infiltration pit treatments showed a moderate 2–3% effect. It can also be concluded that while each treatment showed a significant interrelationship between different inter-factors, no significance was found between individual factors. The results of this study indicated that overall variation in RHS can be significant in RHS's ability to conserve soil moisture. The provided data can be used for long-term usage and data monitoring of such structures.
Extent of Alveolar Collapse in Expiratory CT as a Prognostic Marker in Idiopathic Pulmonary Fibrosis
Authors: Scharm Sarah C. , Schaefer-Prokop Cornelia , Schreuder Anton , Ehmig Jonathan , Moeskes Matthias , Fuge Jan , Seeliger Benjamin , Wacker Frank K. , Prasse Antje , Shin Hoen-oh 
Published: August 2024

Abstract

Purpose:
To investigate whether CT-based histograms of attenuation on inspiration and expiration can indicate alveolar collapse and predict progression in patients with idiopathic pulmonary fibrosis (IPF).
Methods:
In this retrospective study, CT scans of IPF patients imaged in the inspiratory and expiratory phases were analyzed. Patients were divided into two groups based on their status three years after baseline CT (death/transplantation or clinical surveillance). Attenuation histograms were analyzed, and the Mann-Whitney U test was used to assess differences between groups in CT-derived measures (including skewness). Logistic regression was used to model the ability to discriminate between groups using forced vital capacity (FVC%) and CT-derived measures.
Results:
The study included 66 patients (mean age 69.5 ± 10.9 years, 58 men). After three years, 37 patients had survived and 29 had either died or received a transplant. Significant differences between groups were found in all CT-derived measures and baseline FVC%. A logistic regression model using CT-derived skewness had better predictive performance (AUC = 0.793, 95% CI = 0.685-0.900) than the FVC% model alone (0.708, 0.581–0.836).
Conclusion:
Paired inspiratory/expiratory attenuation histogram analysis improves outcome prediction beyond FVC% alone and offers a promising approach to assess alveolar collapse in IPF as a prognostic imaging marker.
Enhancing Public Healthcare with IoT and AI: A Comprehensive Study on Improving Dry Eye Disease Diagnosis
Authors: Wang Mini Han , Zeng Peijin , Li Xinyue , Chong Kelvin Kam-Lung , Yu Xiangrong 
Published: August 2024

Abstract

The rapid evolution of the Internet of Things (IoT) and Artificial Intelligence (AI) technologies has opened new horizons in public healthcare. However, maximizing their potential requires precise and effective integration, particularly in obtaining specific healthcare information. This study focuses on Dry Eye Disease (DED), simulating 5,747 patient complaints to establish an IoT-enabled, AI-driven DED-detection system. Utilizing OpenAI GPT-4.0 and ERNIE Bot-4.0 APIs, a specialized prompt mechanism is developed to evaluate the urgency of medical attention required. The primary goal is to enhance the accuracy and interpretability of AI responses in interactions between DED patients and AI systems. A BERT machine learning model is also implemented for text classification to differentiate urgent from non-urgent cases based on AI-generated responses. User satisfaction, measured through Service Experiences (SE) and Medical Quality (MQ), yields a composite satisfaction score derived from these assessments' average. A comparison between prompted and non-prompted queries reveals a significant accuracy increase from 80.1–99.6%. However, this improvement is accompanied by a notable rise in response time, indicating a potential trade-off between accuracy and user satisfaction. In-depth analysis shows a decrease in SE satisfaction (95.5 to 84.7) and a substantial increase in MQ satisfaction (73.4 to 96.7) with prompted queries. These results highlight the need to balance accuracy carefully, response time, and user satisfaction in developing and deploying IoT-integrated AI systems in medical applications. The study underscores the crucial role of prompt engineering in improving the quality of AI-based healthcare services with virtual assistants. Integrating IoT with GPT-based models in ophthalmic virtual assistant development presents a promising direction for enhancing healthcare delivery in eye care. Future research should focus on optimizing prompt structures, exploring dynamic prompting approaches, prioritizing user-centric evaluations, conducting real-time implementation studies, and considering hybrid model development to address identified strengths, weaknesses, opportunities, and threats.
The impact of the kind and number of organs implicated in metastatic tumors on postoperative survival of adrenal cortical carcinoma
Authors: Li Xuwen , Tan Zhongyu , Zhu Yihao , Chen Can , Wang Dong , Li Yajian , Wang Mingshuai , Xing Nianzeng , Yang Feiya , Ye Xiongjun 
Published: August 2024

Abstract

Objective:
To investigate the impact of the kind and number of organs involved in metastatic tumors on postoperative survival of adrenal cortical carcinoma (ACC).
Methods:
Clinical data with ACC patients who underwent surgery were collected from the SEER databas (2000 – 2020). The overall survival (OS) of ACC patients with/without metastasis, single organ metastasis/multiple organ metastasis and liver/lung metastasis were compared, respectively. Propensity score matching (PSM) was used to balance the differences between baseline data.
Results:
This study included a total of 757 patients with ACC who underwent surgery. After PSM, the OS curve showed that patients without metastatic tumors had a higher survival rate than those with metastatic tumors (P< 0.001), patients with two or more tumor metastases had higher mortality than those with one metastasis (P = 0.041), and patients with lung metastasis had a higher survival rate than those with liver metastasis (P = 0.015).
Conclusion:
The kind and number of organs involved by metastatic tumors are associated with the postoperative survival time of patients with ACC. Compared to metastasis of a single organ, metastasis of two or more organs has a shorter life period. Liver metastasis has a worse prognosis than lung metastasis.
The Potential Role of Sodium/Glucose Cotransporter 2 Inhibitors in the Treatment of Cystinuria
Authors: Sui Wilson , Yang Heiko , Desai Manoj , Chi Thomas , Stoller Marshall 
Published: August 2024

Abstract

Introduction
The Maillard reaction is a non-enzymatic reaction between an amino acid and carbohydrate. We hypothesized that continuous washing of cystine stones with glucose could theoretically prevent growth of an existing cystine stone or even reduce its size leading to a decrease in stone events. Sodium/Glucose Cotransporter 2 (SGLT2) inhibitors, well known for inducing glucosuria, were used to test this hypothesis in an initial series of patients.
Materials and methods
Patients with cystinuria from September 2019 to May 2023 who received off-label dapaglifozin (Farxiga™) were identified. Patients were allowed to continue thiol and alkalinizing agents per standard of care. A symptomatic stone event was defined by stone passage or surgical intervention.
Results
Ten cystinuric patients were prescribed SGLT2 inhibitors with a median follow up of 13.5 months. Each patients’ historic stone event rate was compared to the event rate while prescribed SGLT2 medication. Overall, 80% of patients experienced fewer or equivalent stone events and half had stable stone volume during therapy. Eight patients had negative cystine capacity at baseline, yet seven experienced fewer stone events while on medication: four experienced no stone growth. One patient was taken off the SGLT2 inhibitor due to an adverse reaction; three others experienced mild, self-resolving effects and yet stayed on the medication.
Conclusions
Cystinuric patients treated with a SGLT2 inhibitor experienced fewer stone events while on medication compared to their historic rates and exhibited decreased or stable stone growth. There were few medication related side effects. SGLT2 inhibitors may be a promising long-term therapy for patients with cystinuria.
Multimodal Imaging For Planning Closure Of Ventricular Septal Defect In a Patient With Ebstein’s Anomaly And Post Cardiotomy Shock Assisted With Venoarterial ECMO. The Role Of 3D Printing In Complex Scenarios
Authors: Encarnación-Martínez Uriel , Gaytán-García Cristhian Josué , Morales-Pascacio Juan Carlos , Fierros-Chablé Kevin Alexis , Lazcano-Díaz Emmanuel Adrián , Manzur-Sandoval Daniel , González-Ruiz Francisco Javier , García-Cruz Edgar , Jiménez-García Gian Manuel , Rojas-Velasco Gustavo 
Published: August 2024

Abstract

We present the case of a 19-year-old patient with a history of Ebstein’s anomaly who underwent Da Silva’s cone repair. However, as an immediate complication, she developed post-cardiotomy cardiogenic shock syndrome, requiring venoarterial ECMO circulatory support. She remained completely dependent on circulatory support due to right ventricular (RV) dilation and akinesia, which caused compression of the left ventricle (LV). Therefore, the decision was made to exclude the RV with Starnes surgery in order to reduce dilation and improve LV ventricular function by resolving the ventricular interdependence. Due to RV extreme dilation, an apical ventricular septal defect (VSD) developed as a complication, with a left-to-right shunt perpetuating the RV dilation. However, due to the high surgical risk, percutaneous closure was planned. Different multimodal imaging techniques were used, along with the reconstruction and printing of a 3D model, to successfully plan the percutaneous closure of the VSD.
Comparing Immunogenicity and Safety following Transition from Reference Rituximab to Biosimilar Rituximab (DRL_RI) in patients with Rheumatoid Arthritis: A Randomized, Double- blind, Phase 3 Study
Authors: Maharaj Narendra , Uppada Dharma Rao , Reddy Naveen , Reddy Pramod , Batalov Anastas , lvanova Delina , Staykova Nedyalka , Baranauskaite Asta , Hassan Laila Amirali 
Published: August 2024

Abstract

Objectives
To assess immunogenicity and safety in patients with active rheumatoid arthritis (RA) transitioning from rituximab [US-licensed rituximab: Reference Product (RP); EU-approved rituximab: Reference Medicinal Product (RMP)] to DRL_RI (proposed rituximab biosimilar), in comparison to those continuing on RP/RMP.
Methods
This double-blind, Phase 3 study included 140 RA patients having prior exposure to RP/RMP; transitioned to DRL_RI (n = 70) or continued with RP/RMP (n = 70) for two 1000 mg infusions on Days 1 and 15. Assessments included anti-drug antibodies (ADAs), neutralizing antibodies (NAbs) and ADA titre over 12 weeks, and safety follow-up till 26 weeks.
Results
Incidence of ADA after dosing was low in both groups: 1.4% in DRL_RI group on Day 15, Week 8, and Week 12; and 2.9% in RP/RMP group at Week 12. Only 1 patient in DRL_RI group was positive for NAbs at Week 8. ADA titre values did not significantly differ between the two groups. The time-matched rituximab concentration was comparable between groups, indicating no interference for immunogenicity assessment. Treatment-emergent adverse events (TEAEs) were reported by 34.3% and 38.6% patients, respectively, in DRL_RI and RP/RMP groups. Incidences of TEAEs that were drug-related, leading to treatment discontinuation, grade ≥ 3, or serious, were also comparable.
Conclusion
Immunogenicity was low and comparable in RA patients transitioning to DRL_RI or continuing on RP/RMP. The overall safety profile in patients transitioning to DRL_RI did not appear to differ in frequency, severity, or quality from patients continuing on RP/RMP and was in line with the known safety profile of rituximab.
Trial registration:
ClinicalTrials.gov identifier: NCT0426877; EudraCT: 2019-002810‐37;US IND: 112766
Incomplete penetrance of a KANSL1 loss of function variant resolved by RNA analysis, a case report
Authors: Akimova Daria , Guseva Daria , Nefedova Maria , Skoblov Mikhail 
Published: August 2024

Abstract

Background
Epilepsy is a prevalent neurological disorder, affecting approximately 1% of the global population. The extensive clinical and genetic variability in epilepsy makes accurate diagnosis a significant challenge.
Case presentation
In this study, we describe a girl with a clinical presentation of developmental and epileptic encephalopathy (DEE). Using whole genome sequencing (WGS), we identified several candidate variants in the HNRNPU, NIPBL, and KANSL1 genes with partial overlap with the patient clinical presentation. Subsequent analysis revealed that only the variant in the HNRNPU gene arose de novo while the others were inherited from an unaffected parents. However, the previously reported pathogenic loss of function variant in the KANSL1 gene, inherited from a healthy mother, complicated comprehensive family counseling. A thorough investigation using RNA analysis showed that the variant in the KANSL1 gene is located in a duplicated locus, which is not functional, explaining the assumed incomplete penetrance.
Conclusions
This case illustrates the importance of integrating WGS with additional analyses to accurately diagnose and understand the molecular basis of incomplete penetrance in the KANSL1 gene.
Risk Factors for Postoperative Stone Formation in Pediatric Choledochal Cysts: A Study of 457 Cases
Authors: Gang Sujin , Kim Pyeong Hwa , Kwon Hyunhee , Yoon Hee Mang , Namgoong Jung-Man 
Published: August 2024

Abstract

Background: Postoperative bile duct stones, including intrahepatic bile duct (IHD) stones and remnant distal common bile duct (remnant intrapancreatic common bile duct, RIPD) or common channel duct (CCD) stones, cause long-term complications following choledochal cyst excision. We aimed to retrospectively review occurrence, associated factors, and treatment of postoperative bile duct stones.
Methods: Records of 457 pediatric patients who underwent choledochal cyst excision at Asan Medical Center (1992-2021) were retrospectively reviewed. Data on cholelithiasis, operation, and outcomes were analyzed.
Results: Overall, 457 pediatric patients underwent choledochal cyst excision, with 21 developing intrahepatic duct (IHD) stones, primarily associated with Todani type IVa cysts, especially Tsuchida types 2 or 3, which are often linked to IHD dilation and upstream stenosis. Patients with RIPD/CCD stones were all identified with complicated Komi types, and the impact of pancreas divisum itself was unclear. Early surgery even before six months of age is associated with improved prognosis regarding the occurrence of IHD stones, but not related with RIPD/CCD stones. Early surgery even before six months of age is associated with improved prognosis regarding the occurrence of IHD stones, but not related with RIPD/CCD stones.
Conclusions: This is the largest retrospective study comprising 21 IHD and 18 RIPD/CCD stones from 457 pediatric patients with choledochal cysts and including 21 cases of IHD stones and 18 cases of RIPD/CCD stones as well as their clinical and treatment outcomes to date in this aspect. Our findings suggest that a more systematic and long-term follow-up is needed for patients with choledochal cysts CC postoperatively.
Detection of resting energy expenditure in prostate cancer: Assessment of energy prediction equations
Authors: Koçak Tevfik , Tek Nilüfer Acar , YEŞİL Süleyman , SÖZEN Tevfik Sinan 
Published: August 2024

Abstract

Background
An accurate calculation of energy expenditure (REE) is necessary for estimating energy needs in prostate cancer. The purpose of this research was to evaluate the accuracy of the established new equation for predicting REE in malign and benign prostate patients versus the accuracy of the previously used predictive equations based on REE measured by indirect calorimetry.
Methods
Subjects with 41 malign prostate and 42 benign prostate subtects were both over the age of 40 (65.3 ± 6.30 years) and recruited for the study. Cosmed-FitMate GS Indirect Calorimetry with Canopy-hood (Rome, Italy) was used to measure REE. A full body composition analysis and anthropometric measurements were taken.
Results
Malign prostate group PSA Total and measured REE values (4.93±5.44 ng/ml, 1722.9±272.69kcal/d respectively) were statisticaly significantly higher than benign group (1.76±0.73ng/ml, 1670.5±266.76 kcal/d respectively) (p < 0.05). Malign (MPG) and benign prostate groups (BPG) have the highest percentage of the accurate-prediction value of equations 80.9% (New EquationMPG) and 64.2% (New EquationBPG). The bias of the equations varied from-36.5% (Barcellos II Equation) to 19.2% (Mifflin-St. Jeor equation) for malign prostate group and varied from − 41.1% (Barcellos II Equation) to 17.7% (Mifflin-St.Jeor equation) in benign prostate group. The smallest RMSE values in the malign and benign prostate group were New EquationMPG (149 kcal/d) and New EquationBPG (202 kcal/d). The new specific equation for malign prostate cancer: REE = 3192,258+(208,326* body weight(WT)) - (20,285* height(HT)) - (187,549* Fat Free Mass(FFM)) - (203,214* Fat Mass(FM)) + (4,194* Prostate Specific Antigen Total(PSAT)). The new specific equation for benign prostate group: REE = 615,922+ (13,094* WT). Bland-Altman plots reveal an equally random distribution of new equations in malign and benign prostate group.
Conclusions
The majority of the previously developed predictive equations for REE were inaccurate and biased. The new specific equation for malign prostate cancer that we created enabled us to develop prostate cancer-specific energy prediction equations with the PSAT parameter. In any case, the new predictive equations enable clinicians to estimate REE in people with malign and benign prostate groups with sufficient and most acceptable accuracy.