A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy by Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee

“…Within 5 months after the molecular diagnosis, the patient was treated with subretinal voretigene neparvovec (VN) therapy and is being followed up for prognosis. …”
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Genomic characterization and evolutionary analysis of a Getah virus variant from piglets in central China by Zhenhua Guo, Yao Jiang, Peng Li, Gaiping Zhang, Gaiping Zhang, Gaiping Zhang, Gaiping Zhang

“…Most of these special sites were distributed in domain A, B, and C of E2 protein, which are usually associated with the GETV infection and immune response.DiscussionOur study expands knowledge of GETV pathogenicity and deepens understanding of GETV genetic and adaptive evolution, which would be valuable for the development of diagnosis and prevention for GETV.…”
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Development of a Portable Rapid Detection Method for Porcine Epidemic Diarrhea Virus Using Reverse Transcription-Recombinase-Aided Amplification Technology by Yiran Zhao, Weijie Yi, Qicheng Yang, Jiahao Li, Yanke Shan, Fei Liu

“…Early detection and accurate diagnosis are therefore crucial for controlling its further spread. …”
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Motivations and perceptions for physical activity in women living with metastatic breast cancer: a qualitative interview study by Mark Liu, Sharon Kilbreath, Jasmine Yee, Jane Beith, Justin McNab, Elizabeth Dylke

“…Results Twenty-three women participated; median age was 60 years (IQR: 20) and median time since metastatic diagnosis was 3.3 years (IQR: 3.0). Twelve women were engaged with physical activity, seven reported intentions to be active but found it challenging, and four reported nominal interest in physical activity. …”
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Echocardiographic Parameters as Predictors of In-Hospital Mortality in Patients with Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention by Miroslava Sladojevic, Srdjan Sladojevic, Dubravko Culibrk, Snezana Tadic, Robert Jung

“…A data of 2030 patients with diagnosis of ACS hospitalized from December 2008 to December 2011 was used to develop a risk model based on echocardiographic parameters using the binary logistic regression. …”
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To do or not to do? – Endometrial biopsy in younger women with abnormal uterine bleeding by Sandra Lynn Jaya-Bodestyne, Marlene Samantha Goh, Madeline Chan Hiu Gwan, Sonali Prashant Chonkar, Khurshid Merchant, Manisha Mathur

“…Results: In our study, 71.3 % of women had a benign histology, 22.8 % had EH with and without atypia and 2.2 % of women had a diagnosis of EC. A BMI ≥ 30 (RR 1.76, p = 0.002), nulliparity (RR 1.84, p = 0.001), ultrasound findings of thickened endometrium ≥ 15 mm (RR 1.39, p = 0.048) and cystic spaces in the endometrium (RR 1.83, p < 0.001) were identified as significant risk factors after a multivariate analysis. …”
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The Recent Progress and Applications of Digital Technologies in Healthcare: A Review by Maksut Senbekov, Timur Saliev, Zhanar Bukeyeva, Aigul Almabayeva, Marina Zhanaliyeva, Nazym Aitenova, Yerzhan Toishibekov, Ildar Fakhradiyev

“…Digital platforms can help optimize diagnosis, consulting, and treatment of patients. However, due to the lack of official regulations and recommendations, the stakeholders, including private and governmental organizations, are facing the problem with adequate validation and approbation of novel digital health technologies. …”
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Unveiling the new chapter in nanobody engineering: advances in traditional construction and AI-driven optimization by Jiwei Liu, Lei Wu, Anqi Xie, Weici Liu, Zhao He, Yuan Wan, Wenjun Mao

“…Abstract Nanobodies (Nbs), miniature antibodies consisting solely of the variable region of heavy chains, exhibit unique properties such as small size, high stability, and strong specificity, making them highly promising for disease diagnosis and treatment. The engineering production of Nbs has evolved into a mature process, involving library construction, screening, and expression purification. …”
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Urological, vascular, and infectious implications of kidney transplant: a single-center experience by Juan G. Prada, Sofía Manjarrés-Sierra, Isabella Lince-Rivera, Carolina Martínez-Pinedo, Carolina Martínez-Pinedo, Germán Patiño, Hugo E. López

“…It is important for medical personnel to be aware of this data to have a high level of suspicion and make an active search, as an early diagnosis and treatment of these pathologies are crucial to avoid graft loss. …”
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Assessment of correlation of fatigue in patients of rheumatoid arthritis using bristol rheumatoid arthritis fatigue multidimensional questionnaire score with disease activity – An... by Harpreet Singh, Kusum Yadav, Ritu Sangwan

“…Conclusion: The results of the present study indicate that fatigue quantum is related to disease activity and should be evaluated at the time of diagnosis. BRAF-MDQ is a simple, yet effective patient reported outcome questionnaire which assessed the fatigue quantum. …”
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Association of functional health literacy and cognitive ability with self-reported diabetes in the English Longitudinal Study of Ageing: a prospective cohort study by Ian J Deary, Chloe Fawns-Ritchie, Jackie Price

“…Objectives We investigated whether functional health literacy and cognitive ability were associated with self-reported diabetes.Design Prospective cohort study.Setting Data were from waves 2 (2004–2005) to 7 (2014–2015) of the English Longitudinal Study of Ageing (ELSA), a cohort study designed to be representative of adults aged 50 years and older living in England.Participants 8669 ELSA participants (mean age=66.7, SD=9.7) who completed a brief functional health literacy test assessing health-related reading comprehension, and 4 cognitive tests assessing declarative memory, processing speed and executive function at wave 2.Primary outcome measure Self-reported doctor diagnosis of diabetes.Results Logistic regression was used to examine cross-sectional (wave 2) associations of functional health literacy and cognitive ability with diabetes status. …”
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Defining New Research Questions and Protocols in the Field of Traumatic Brain Injury through Public Engagement: Preliminary Results and Review of the Literature by Shumaila Hasan, Aswin Chari, Mario Ganau, Chris Uff

“…Brain tissue sampling is the mainstay of diagnosis in neuro-oncology; following on this path, we hypothesise that information gleaned from neural tissue samples obtained in TBI patients upon hospital admission may correlate with outcome data in TBI patients, enabling an early, accurate, and more comprehensive pathological classification, with the intent of guiding treatment and future research. …”
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Raman Microspectral Study and Classification of the Pathological Evolution of Breast Cancer Using Both Principal Component Analysis-Linear Discriminant Analysis and Principal Compo... by Heping Li, Yu Ren, Fan Yu, Dongliang Song, Lizhe Zhu, Shibo Yu, Siyuan Jiang, Shuang Wang

“…The present study demonstrates that Raman spectroscopy combined with multivariate analysis technology has considerable potential for improving the efficiency and performance of breast cancer diagnosis.…”
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An Intelligent Crow Search Optimization and Bi-GRU for Forest Fire Detection System Using Internet of Things by Syed Abdul Moeed, Bellam Surendra Babu, M. Sreevani, B. V. Devendra Rao, R. Raja Kumar and Gouse Baig Mohammed

“…Therefore, to prevent the outbreak of a forest fire, an efficient forest fire diagnosis and aversion system is needed. To address this problem, an IoT-based Artificial Intelligence (AI) technique for forest fire detection has been proposed. …”
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Conjugated Hyperbilirubinemia in Infants: Is There Still a Role for ERCP? by Jan Stovicek, Stepan Hlava, Radan Keil, Jiri Drabek, Jindra Lochmannova, Petra Koptová, Martin Wasserbauer, Barbora Frybova, Jiri Snajdauf, Radana Kotalova, Michal Rygl

“…ERCP was indicated in cholestatic infants with suspicion of biliary obstruction. The most common diagnosis was biliary atresia (48%), choledochal cysts (13%), and choledocholithiasis (4%). …”
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Clinical performance of real-time nanopore metagenomic sequencing for rapid identification of bacterial pathogens in cerebrospinal fluid: a pilot study by Yoon Hyun Sung, Yong Kuk Ju, Hak Jun Lee, Seung Min Park, Jin Woong Suh, Jeong Yeon Kim, Jang Wook Sohn, Young Kyung Yoon

“…Nanopore-based metagenomic sequencing is expected to serve as a complementary tool for pathogen detection in CSF samples by facilitating rapid and accurate diagnosis.…”
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Quantitative proteomic studies of the intestinal mucosa provide new insights into the molecular mechanism of ulcerative colitis by Yandong Guo, Dahal Pabitra, Lei Pan, Lanbo Gong, Aimin Li, Side Liu, Jing Xiong

“…Further studies are required to determine if the proteins identified may help in the diagnosis and treatment of UC.…”
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Assessment of healthcare workers’ knowledge and availability of resources for sickle cell disease management in Bukavu, Democratic Republic of the Congo by Nash Mwanza Nangunia, Olivier Mukuku, Viviane Bianga Feza, Yves Mulindilwa Kyembwa, Théophile Barhwamire Kabesha, André Kabamba Mutombo, Stanislas Okitostho Wembonyama

“…Conclusion This study reveals a general lack of knowledge among HCWs about SCD in Bukavu, as well as limited availability of resources for diagnosis and treatment. It is essential to improve the training of HCWs and to strengthen HCFs in order to optimize the management of SCD patients in Bukavu.…”
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Complement Factor H Gene Variant in a Patient with Thrombotic Microangiopathy on a Mixed Clinical Background by Yoichi Iwafuchi, Tetsuo Morioka, Yuko Oyama, Shin Goto, Ichiei Narita

“…Her clinical and typical renal histological findings indicated a diagnosis of thrombotic microangiopathy. There was a possible CFH gene of a very rare variant “c.526 T > C (p.Phe176Leu)” in exon 5. …”
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Expression of some circulating microRNAs as predictive biomarkers for prognosis and treatment response in glioblastoma by Elham Ali, Marwa Adel Ahmed, May A. Shawki, Lobna R. Ezz El Arab, Mohamed K. Khalifa, Menha Swellam

“…Circulating miRNAs (miRs) are important regulators of cancer progression and are potentially useful for GBM diagnosis and treatment. This study investigated how miR-29a, miR-106a, and miR-200a affect the prognosis of GBM patients. …”
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