bluuebunny/crossref_metadata_2025 huggingface dataset:
Two cases of Lowe syndrome caused by a novel mutation in OCRL gene in a family
Authors: Huang Yuchan , Wang Le , Wang Xinlei , Sun Xiaoying , Han Peitong , Wang Yuxue , Li Chunzhen
Published: August 2024

Background
Lowe syndrome is a rare X-linked recessive genetic disease characterized by congenital binocular cataracts, central nervous system developmental delay, and progressive renal failure caused by tubular injury. Mutations in the OCRL gene can lead to two diseases: Dent-2 syndrome and Lowe syndrome.
Case introduction: Two boys from a family have similar clinical manifestations, including congenital bilateral cataracts, mild developmental abnormalities, and low molecular weight proteinuria. Through whole exome sequencing, it was found that both boys had missense mutations on exon 21 (c.2302A > T, p.Ile768Phe), a newly discovered mutation site.
Conclusion
The discovery of Lowe syndrome in a family of children should be taken seriously, and genetic validation should be conducted on the remaining children in the family as soon as possible. Early intervention and treatment of the disease should be carried out to delay the progression.(This case report is a retrospective study. The parents of the patient have signed an informed consent form and agreed to publish the report. The clinical trial has not been registered.)
Application of Digital Virtual Reality Simulator for Dental Surgical Skill Training
Authors: Li Rui-fang , Ren Jian-gang , Zhang Wei , Yu Zi-li , Chen Gang
Published: August 2024

Aim
Dental surgical skills training assumes critical importance for aspiring dentists. Our present study aimed to investigate the effectiveness of innovative DVRS approach in preclinical dental surgical skill training.
Methods
A total of 142 students participated in this study. Within this cohort, 70 students from the 2017 intake were trained using traditional manikins (Group TM), while 72 students from the 2018 were trained using a Digital Virtual Reality Simulator for Dental Surgical Skills (Group DVRS). The scores of the training course between two groups were compared. Additionally, the experiences of students from Group DVRS were collected through a questionnaire survey regarding the use of DVRS in their preclinical training.
Results
The comparative analysis revealed that the average scores for Group DVRS were slightly higher than Group TM (P < 0.05). The feedback collected via questionnaires from Group DVRS participants reflected their satisfaction with the DVRS, praising its user-friendliness, clarity, training efficacy, and the resultant enhancement in their operational skills.
Conclusions
These findings suggest that DVRS is an effective and beneficial tool for preclinical dental surgical skill training.
Assessing the long-term care (LTC) service needs of older adults based on Time-Driven Activity-Based Costing (TDABC)——A cross-sectional survey in central China
Authors: Fang Li , Li Li , Huang Weihong , Zeng Yuting , Long Yanfang , Peng Jing , Hu Jianzhong , Li Jing , Chen Xi
Published: August 2024

Background
The global population's aging has led to an increasing demand for long-term care (LTC), yet a significant gap exists between the high demand for LTC and the low availability of services, especially in developing countries like China. Comprehensive assessment of LTC service demands by including the time and cost analysis is crucial to inform the planning and financing of LTC resources, yet such research is lacking in China.
Methods
A cross-sectional study was conducted in Changsha City, Hunan Province, China, from June 2021 to December 2022. A stratified multistage cluster sampling method was used to recruit 1,270 older adults from five nursing homes and three communities/streets in three regions of Changsha City. The LTC service needs were assessed by calculating the service time required from caregivers, nurses, and doctors and the total service time (min/d). Participants' disability, activities of daily living (ADLs), mental status and social involvement (MSSI), and sensory and communication (SC) were assessed using standard scales. Generalized linear regression models were used to analyze factors associated with LTC service needs.
Results
The participants had an average age of 76.41 ± 8.38 years, with 43.7% being female. The median service time required from caregivers, nurses, and doctors was 53.34 min/d, 3.66 min/d, and 0.33 min/d, respectively, and the total service time was 83.31 min/d. The generalized linear regression model identified the following factors that were associated with higher total service time: Aged 75–84 years, Living in nursing homes, Income over 5000 per month, ADLs, MSSI (9 ~ 40), SC and having 3 ~ 4 kind comorbidity of geriatric (P < 0.05).
Conclusions
Older adults have a high need for LTC services, especially those provided by caregivers, indicating an urgent need to expand and improve LTC systems. The LTC service time needed is associated with multilevel factors encompassing sociodemographic, functional, and psychological aspects. This study assess the service time required of older adults and their influencing factors based on Time-Driven Activity-Based Costing (TDABC) and offer deeper insights into the needs, demands, and costs of LTC services for older adults and provide essential guidance for future planning and financing of LTC resources.
Effect of butyrate, a short-chain fatty acid, in repairing brain injury in neonatal rats
Authors: Zhao Jing , Feng Zhiyuan , Yang Can , Zhang Jun , Jiang Lin , Hou Li
Published: August 2024

Butyrate, as a microbial metabolite, is considered to have an effect on improving the intestinal microenvironment. At present, it is shown that the brain and gut interact with each other through the gut-microbiota-immune-brain axis. An aberrant gut-microbiota-immune-brain axis in premature infants may aggravate brain injury. However, whether sodium butyrate can improve the microbial-intestinal-brain axis to repair the brain injury in premature infants remains unclear. In this study, we established a neonatal rat hypoxic-ischemic brain injury model and a necrotizing enterocolitis model. It was found that enteritis could lead to the occurrence and aggravation of brain injury, which might be associated with the increased secretion of inflammatory factor interleukin-17 caused by the down-regulation of suppressor of cytokine signaling 1 (SOCS1). Further studies showed that sodium butyrate can up-regulate the expression of SOCS1, and increase the secretion of anti-inflammatory interleukin-10, which may alleviate the neurological dysfunction caused by brain injury. This study provides a new theoretical basis for further exploration of the mechanism of brain injury repair in premature infants.
A Synthesis of Metal-Organic Frameworks Using Terephthalic Acid Obtained from PET Bottles with Dye Adsorption for Application in Experimental Chemistry Classes
Authors: Gonçalves João Manoel R. , Brandão Júlia V. , Lima-Neto Benedito S.
Published: August 2024

In this study, we synthesized Metal Organic Frameworks (MOFs) using five transition metals from the 3d series: iron, cobalt, nickel, copper, and zinc. The ligands employed were Terephthalic Acid, also known as H₂TPA (benzene 1,4-dicarboxylate acid), recovered from PET bottles. The process of obtaining H₂TPA involved alkaline hydrolysis of PET bottle fragments in a 10 mol·L⁻¹ NaOH solution (40% m/w) placed under reflux. Once H₂TPA was obtained, it could be mixed with transition metal acetates. When these mixtures were combined in N,N’-dimethylformamide (DMF) solutions, the formation of metallic MOFs was observed. Some characteristics of the MOFs, particularly their adsorption capacity, were demonstrated through UV-Vis absorption spectroscopy using solutions of common laboratory acid-base indicator dyes such as Methylene Blue (NB), Methyl Orange (MO), Nile Blue (NB), and Malachite Green (MG). This type of simple experiment can be applied in undergraduate Chemistry classes, involving synthesis, characterization, and applications of MOFs compounds extensively documented in scientific literature. Furthermore, the use of the H₂TPA ligand through chemical recycling adds an environmentally friendly aspect to the experiments, resulting in low-cost, easily executable procedures that align with green chemistry principles.
Unusual Inclusions And Genesis Of Microdiamonds From The Zelenyi Yar Neogene Placer (The Ukrainian Shield): A Tem Study
Authors: Kvasnytsya Victor M. , Wirth Richard , Vyshnevskyi Oleksiy A. , Schreiber Anja
Published: August 2024

16 individual diamond microcrystals from the Neogene placer of Zeleny Yar on the Ukrainian Shield have been studied using TEM methods. Placer sediments are fine-grained sands of coastal marine origin redeposited in a river valley. The placer heavy minerals include ilmenite, rutile, zircon, kyanite, sillimanite, staurolite, tourmaline, mantle and impact type diamonds. Undisputed minerals genetically related with mantle diamond were not found in the placer. The studied mantle diamonds have different morphologies: octahedron, octahedroid, octahedron-rhombic dodecahedron transition crystal, cube, cuboid, crystals of {100} + {111} + {110} combinational form, fragments of octahedra. The size of the crystals does not exceed 0.5 mm. They differ in color - from colorless to brown and gray, and growth mechanisms - tangential for octahedra and transitional crystals and fibrous for cubic crystals. Some optically clear diamond crystals contain distinct dark inclusions already visible under a binocular microscope. 21 TEM foils 15 × 10 × 0.150 µm in size each, prepared from typical crystals, have been studied. Two groups of diamonds are distinguished based on inclusions: 2 diamonds with sets of inclusions typical for diamonds from ophiolites and the remaining 13 crystals with sets of multiphase inclusions and structural defects typical for diamonds from kimberlites, lamproites and lamprophyres. Crystals of the first group are cube-octahedron and a fragment of an octahedron. Their inclusion are: Mn-olivine, MnNi alloy with minor Si content, MnNiO3 oxide, Mn5C2 carbide, rhodonite (Mn(SiO3) and amorphous silica. MnNiO3 oxide is associated with silica and chlorine. Most of the second group crystals are characterized by curved dislocations, carbon platelets were found in several crystals and nitrogen platelets in one crystal. Inclusions in these diamonds are: dolomite, ilmenite, magnetite, apatite, mica, chlorite and orthopyroxene. One crystal contains a Fe-rich forsterite inclusion. They belong to the typical eclogite assemblages of mantle diamond from kimberlites. Crystals of this group experienced significant annealing. Possible original sources for crystals of the first group are proposed serpentenites, for second group - kimberlites or lamproites or lamprophyres.
In Vitro and Ex-Vivo Direct Effects of Coagulation Factors on on Bone Cells: Exploring the Bone Remodeling Alterations in Haemophilia A
Authors: Battafarano Giulia , Lancellotti Stefano , Sacco Monica , Rossi Michela , Terreri Sara , Gregorio Jacopo Di , Giuseppe Laura Di , D’Agostini Matteo , Porzio Ottavia , Gennaro Leonardo Di , Tardugno Maira , Pelle Simone , Minisola Salvatore , Toniolo Renato Maria , Luciani Matteo , Fattore Andrea Del , De Cristofaro Raimondo
Published: August 2024

Haemophilia is associated with reduced bone mass and mineral density. Due to the rarity of the disease and the heterogeneity among the studies, the pathogenesis of bone loss is still under investigation. We studied the effects of coagulation factors on bone cells and characterized in a pilot study the osteoclastogenic potential of patients’ osteoclast precursors. To evaluate the effect of coagulation factors on osteoclasts, we treated Healthy Donor-Peripheral Blood Mononuclear Cells (HD-PBMC) with Factor VIII (FVIII), von Willebrand Factor (VWF), FVIII/VWF complex, activated Factor IX (FIXa), activated Factor X (FXa) and Thrombin (THB). FVIII, VWF, FVIII/VWF, FXa and THB treatments reduced osteoclast differentiation of HD-PBMC and VWF affected also the bone resorption. Interestingly, PBMC isolated from patients with moderate/severe haemophilia showed an increased osteoclastogenic potential due to the alteration of osteoclast precursors. Moreover, increased expression of genes involved in osteoclast differentiation/activity was revealed in osteoclasts of an adult patient with moderate haemophilia. Control osteoblasts treated with the coagulation factors showed that FVIII and VWF reduced ALP positivity; the opposite effect was observed following THB treatment. Moreover, FVIII, VWF and FVIII/VWF reduced mineralization ability. These results could be important to understand how coagulation factors deficiency influences bone remodeling activity in haemophilia.
Common Mycorrhizal Networks Improve Survival and Mediate Facilitative Plant Interactions among Andropogon gerardii Seedlings Under Drought Stress
Authors: Russell Margaret , Řezáčová Veronika , Miller Kirby Shane , Nardi Wynter Helene , Brown Morgan , Weremijewicz Joanna
Published: August 2024

Under drought conditions, arbuscular mycorrhizal (AM) fungi may improve plant performance by facilitating the movement of water through extensive hyphal networks. When these networks interconnect neighboring plants in common mycorrhizal networks (CMNs), CMNs are likely to partition water among many individuals. The consequences of CMN-mediated water movement for plant interactions, however, are largely unknown. We set out to examine CMN-mediated interactions among Andropogon gerardii seedlings in a target-plant pot experiment, with watering (watered or long-term drought) and CMN status (intact or severed) as treatments. Intact CMNs improved the survival of seedlings under drought stress and mediated positive, facilitative plant interactions in both watering treatments. Watering increased mycorrhizal colonization rates and improved P uptake, particularly for large individuals. When drought stressed, improved access to water most likely benefited neighboring plants interacting across CMNs. CMNs appear to have provided the most limiting resource within each treatment, whether water, P, or both, thereby improving survival and growth. Neighbors near large, photosynthate-fixing target plants likely benefited from their establishment of extensive hyphal networks that could access water and dissolved P within soil micropores. In plant communities, CMNs may be vital during drought, which is expected to increase in frequency, intensity, and length with climate change.
Large-cell neuroendocrine carcinoma of the bladder: A case report
Authors: Zhou Yu , Yang Lin
Published: August 2024

BACKGROUND
Bladder neuroendocrine tumors are few and exhibit a high degree of aggressiveness. The bladder is characterized by four distinct forms of neuroendocrine tumors. Among them, large-cell neuroendocrine carcinoma is the least prevalent but has the highest level of aggressiveness. To date, only a few dozen cases have been reported.
CASE SUMMARY
Here, we report the case of a 65-year-old man with large-cell neuroendocrine carcinoma of the bladder. The patient presented to the Department of Urology at our hospital due to the presence of painless hematuria without any identifiable etiology. During hospitalization, abdominal computed tomography revealed the presence of an irregular mass on the right anterior wall of the bladder. A cystoscopic nonradical resection of the bladder lesion was performed. The postoperative pathological examination revealed large-cell neuroendocrine bladder cancer.
AnReal: Towards an extended reality, low-cost system for kinesiophobia
Authors: Herskovic Valeria , Arredondo Diego , Torres Gustavo , Vidal Catalina , Campos Mauricio
Published: August 2024

Background
Virtual reality (VR) has been successfully used as part of treatment for patients with chronic low back pain and kinesiophobia. However, the cost of VR systems is still too high to be used in interventions in low-income countries, and systems may produce adverse effects on patients, such as cybersickness and reduced sense of presence.
Objective
This study presents a novel mobile-based extended reality (XR) system that combines views of the real world with a simulated video trajectory that aims to be affordable, provide a good user experience, and provide the essential elements to treat kinesiophobia.
Methods
This paper presents the concept of the system, which is the first system aimed at reducing kinesiophobia that uses XR, as well as its development process and an initial evaluation in physical therapy students.
Results
The system was found to provide an acceptable user experience, but high cybersickness values as indicated by a score of 31.52 on the SSQ questionnaire.
Conclusions
This research proposes and implements a novel, low-cost alternative for treating kinesiophobia related to chronic pain, representing the first system for these purposes that uses extended reality instead of virtual reality.1
Role and screening potential of let-7b-5p, miR-15a-5p, and miR-15b-5p in human prostate cancer
Authors: Sun Chen , Li Xutai , Lu Chong , Wen Zhenyu , Ge Zhenjian , Chen Wenkang , Li Yingqi , Zhou Huimei , Wu Yutong , Lin Shengjie , zhang Pengwu , Wang Wuping , Chen Siwei , Li Hang , Tao Lingzhi , Wu Xionghui , Lai Yongqing
Published: August 2024

Prostate cancer is the fifth leading cause of male cancer mortality and poses a serious threat to men's health worldwide. PSA testing is widely used in prostate cancer screening, but its high false-positive rate leads to unnecessarily high subsequent testing costs, mental anguish and potential physical harm to patients. Therefore, there is an urgent need to develop a convenient, cost-effective and non-invasive diagnostic method to assist in reducing the false-positive rate of PSA screening. The aim of this study was to evaluate the diagnostic value of serum MicroRNA expression in patients with prostate cancer. We selected 10 miRNAs in the literature that were associated with prostate cancer. Afterwards, we measured the expression levels of these miRNAs in serum of 112 prostate cancer patients and healthy controls through a training phase and a validation phase. By plotting receiver operating characteristic curve, the miRNAs with the highest diagnosis value were chosen. Then, a set of miRNAs with the top diagnostic value was identified using stepwise logistic regression. The findings showed that 5 kinds of miRNAs (let-7b-5p, miR-15a-5p, miR-133a-3p, miR-15b-5p, miR-144-3p) were abnormally expressed in the serum of prostate cancer patients. The diagnostic panel constructed with these 3 miRNAs including let-7b-5p, miR-15a-5p miR-15b-5p and which have high specificity and sensitivity in detecting prostate cancer (area under the curve (AUC) = 0.899). Our study illustrates the potential of a three-microRNA panel in the diagnosis of prostate cancer, which can help in the early detection of prostate cancer and may even assist in reducing the false-positive rate of PSA screening.
Constructing a Neutrophil Extracellular Trap Model Based on Machine Learning to Predict Clinical Outcomes and Immunotherapy Response in Renal Cell Carcinoma
Authors: Zhu Yihao , Li Yajian , Li Xuwen , Yu Yuan , Chen Can , Wang Mingshuai , Chen Dong , Xing Nianzeng , Yang Feiya , Ye Xiongjun
Published: August 2024

Neutrophil extracellular traps (NETs) represent a novel form of inflammatory cell death within neutrophils. Emerging research indicates that NETs promote cancer progression and metastasis in various ways. This study aims to provide prognostic NETs characteristics and therapeutic targets for patients with renal cell carcinoma (RCC). NMF analysis was conducted on 89 NET-related genes in the training cohort. Subsequently, WGCNA networks were utilized to study the subtype feature genes. Six machine learning algorithms were assessed for model training, and the optimal model was selected based on 1-year, 3-year, and 5-year AUC values. A NETs signature was then constructed to predict overall survival in RCC patients. Furthermore, multi-omics validation was performed based on NETs signature. Finally, stable knockout key gene RCC cell lines were established to verify the biological function of KCNN4 both in vitro and in vivo. This study highlights the emerging hot topic of NETs in RCC. We provide a prognostic NETs signature and identify multiple roles of KCNN4 in RCC. This work contributes to risk stratification and the identification of new therapeutic targets for RCC patients.
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

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

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

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

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

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

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

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

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

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

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

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.
The Impact of IVF on the Risk of Placenta Abnormalities and Placenta- Related Complications in Twin Pregnancies: a Retrospective Study
Authors: Yang Yi , Liu Ting , Gui Qian , Lan Xia , Xiong Jing , Luo Shujuan , Zhang Chen , Chen Ya , Wang Lan
Published: August 2024

Background
Previous studies have confirmed that in-vitro fertilization (IVF) is associated with higher risks of placenta abnormalities and complications. Considering the increased risk of twin and higher-order multiple pregnancies, we tried to investigate the association between IVF and the risk of placenta outcomes in twin pregnancies.
Methods
This retrospective cohort study included 3845 cases of twin pregnancies delivered at Chongqing Health Center for Women and Children (CQHCWC) between 2017 and 2022. Poisson regression modeling with restricted cubic splines of exact maternal age was used to estimate the absolute risk of placenta outcomes in IVF and non-IVF groups. Main outcomes include placenta abnormalities (placenta previa, placental abruption, placenta accrete, and abnormal morphology of placenta) and placenta-related complications (gestational hypertension, preeclampsia, eclampsia, preterm birth, fetal distress, and fetal growth restriction (FGR)). To dissect the influence of chorionicity on the results, we further did the same analysis on the mono- and di-chorionic sub-group.
Results
The absolute risk of placenta previa, placenta accreta, placental abruption, gestational hypertension, and preeclampsia are significantly higher in the IVF group than in the non-IVF group. While there are no significant differences in the absolute risk of abnormal placenta morphology, fetal distress, FGR, and preterm birth between the two groups. After we did further analysis on the dichorionic sub-group, we found the absolute risk of preterm birth was also higher in the IVF group than in the non-IVF group.
Conclusions
Twin pregnancies who received IVF treatment have a higher risk for most kinds of placenta abnormalities and placenta-related complications. Whether these risks have any further impact on maternal and fetal health needs further investigation.
Influence of socioeconomic determinants on health literacy and self- management practices among elderly residents in Thailand
Authors: Turnbull Niruwan , Kamonroek Nutchanun , Dalinjong Philip Ayizem , Naumoska Tatiana , Gupta Nidhi Rai , Roy Ronia , Wechkunanukul Kannikar Hannah
Published: August 2024

Background
Socioeconomic factors are known to influence health literacy and self- management among elderly populations. This study investigated the influence of socioeconomic determinants on health literacy and self- management among elderly people living in both rural and urban areas in Thailand.
Methods
This study was conducted among elderly people living in one rural area (Phon Ngam village) and one urban area (Tha Ka Suem village). Data were collected between 1 March and 31 July 2021 using multiple validated tools with appropriate data analyses.
Results
A total of 2870 participants were recruited; comprising of 1430 participants in the rural area and 1440 participants in the urban area with a mean age of 69.7 ± 7.77 years. There was a significantly higher proportion of elderly people with financial dependent status in the rural area compared to those in the urban area (91.0% vs 81.3%, respectively, p < 0.001). Participants in the rural area significantly received health information more than those living in the urban area (95.1% vs 80.9%, p < 0.001), particularly health information from community health workers (88.5% vs 33.1%, respectively p < 0.001). The proportion of poor health literacy in many perspectives were significantly higher in the rural group than their urban counterpart, nonetheless the elderly in the rural area were more likely to perform self-care practices based on provided health information compared to those living in the urban area (42.5% vs 35.7%, respectively, p < 0.001) Overall, participants were overweight (mean BMI = 23.2 ± 3.9 Kg/m2), but the rural group had healthier BMI than the urban group (BMI 22.8 ± 4.01 vs 23.5 ± 3.80 Kg/m2 respectively, p < 0.001). Receiving health information was a significant predictor of appropriate self-management practices such as healthy weight management, healthy diet and being active.
Conclusions
Majority of the study population have received health information and had fair health literacy and self-management practices. Nonetheless, differences in health literacy and self-management existed between rural and urban areas. Future investigation of this public health issue is warranted to gain deep insights into the needs and barriers elderly people face in both rural and urban areas in Thailand. This will assist create health interventions and policies for this vulnerable population.