A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report by Xin Liu, Kaiqing Liu, Lifu Hu, Zixiao Liu, Xinhua Liu, Jiantao Wang

“…Introduction: Loeys‐Dietz syndrome (LDS) is a rare autosomal dominant disorder with extensive connective tissue involvement. The diagnosis of this disease is mainly based on clinical features combined with the detection of pathogenic gene mutations, mainly mutations in the transforming growth factor-beta (TGF-β) signaling pathway. …”
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Allele-specific PCR with fluorescently labeled probes: criteria for selecting primers for genotyping by V. A. Devyatkin, A. A. Shklyar, A. Zh. Fursova, Yu. V. Rumyantseva, O. S. Kozhevnikova

“…Due to advancements in technologies for the synthesis of oligonucleotides and improvements in techniques for designing primers and probes, we can expect expansion of the possibilities of this approach in terms of the diagnosis of hereditary diseases. In this article, we discuss in detail basic principles of the method, the processes that influence the result of genotyping, criteria for selecting optimal primers and probes, and the use of locked nucleic acid modifications in oligonucleotides as well as provide a protocol for the selection of primers and probes and for PCR by means of rs11121704 as an example. …”
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Applying YOLOv6 as an ensemble federated learning framework to classify breast cancer pathology images by Chhaya Gupta, Nasib Singh Gill, Preeti Gulia, Noha Alduaiji, J. Shreyas, Piyush Kumar Shukla

“…Early detection is crucial, and the manual screening method may lead to a delayed diagnosis, which would delay treatment and put lives at risk. …”
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A Comparison of the Clinical and Epidemiological Profile of Rocky Mountain Spotted Fever with Dengue and COVID-19 in Hospitalized Children, Sonora, México, 2015–2022 by Gerardo Álvarez-Hernández, Cristian Noé Rivera-Rosas, Jesús René Tadeo Calleja-López, Jehan Bonizú Álvarez-Meza, Maria del Carmen Candia-Plata, Denica Cruz-Loustaunau, Antonio Alvídrez-Labrado

“…Methods: A cross-sectional study was conducted on a series of patients aged 0 to 18 years, hospitalized between 2015 and 2022, with a diagnosis of RMSF, dengue, or COVID-19. Data were retrieved from medical records. …”
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Evaluating Forelimb and Hindlimb Joint Conformation of Morna Racehorses (<i>Equus caballus</i>) by Israr Ahmad, Sahar Ijaz, Mirza M. Usman, Ayesha Safdar, Imdad U. Khan, Muhammad Zeeshan, Syed S. U. H. Bukhari

“…Measuring limb joint angles is crucial for understanding horse conformation, performance, injury diagnosis, and prevention. While Thoroughbred horses have been extensively studied, local Pakistani breeds (e.g., Morna racehorse) have not received scientific attention. …”
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Multimodality Image Analysis in a Cohort of Patients with Atypical Juvenile Ocular Toxocariasis by Xiaohong Guo, Hui Liu, Manli Li, Ke Fan, Shuyin Li, Bo Lei

“…Multimodality images are useful in the diagnosis of atypical juvenile OT, which could be easily overlooked and misdiagnosed.…”
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A Novel Nomogram for Early Identification of CFS-Like Symptoms in University Students with Infectious Mononucleosis by Deping Sun, Yanan Liang, Fuwei Yang, Lan Liu, Yuqin Yan

“…The nomogram will be designed to assist healthcare providers in assessing the likelihood of CFS-like symptoms developing post-IM, rather than providing a definitive diagnosis of CFS. Methods. Clinical data and laboratory findings were collected from university students with IM. …”
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Assessment of Gastric Phenotypes Using Magnifying Narrow-Band Imaging for Differentiation of Gastric Carcinomas from Adenomas by Masaaki Kobayashi, Satoru Hashimoto, Ken Nishikura, Ken-Ichi Mizuno, Manabu Takeuchi, Yoichi Ajioka

“…Conventional white-light endoscopy and forceps biopsy are insufficient for definitive diagnosis of gastric adenoma. Immunohistochemical studies have reported an obvious phenotypic difference between adenomas and carcinomas. …”
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Clinical and radiological characteristics and 1-year self-reported outcomes from patients with encephalitis and coronavirus disease 2019 by Nathane Braga da Silva Rezende, Fernanda Gomes de Queiroz Barros-Aragão, Talita Pinto, Viviane Tavares Carvalho Crelier, Marcos Ravi Figueiredo, Carlos Otávio Brandão, Andrea Silveira de Souza, Fernanda Tovar-Moll, Gabriel R. de Freitas

“…Methods This is a retrospective observational study in which patients with cerebrospinal fluid collection and a recent diagnosis of severe acute respiratory syndrome coronavirus infection were screened for encephalitis through analysis of medical records. …”
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Temporomandibular Joint Ankylosis among Patients at Saint Paul’s Hospital Millennium Medical College, Ethiopia: A 9-Year Retrospective Study by Dereje Mekonnen, Andamlak Gizaw, Bruktawit Kebede

“…All medical records of patients with the diagnosis of TMJA that visited the Maxillofacial Surgery unit from September 2010 through August 2019 were reviewed. …”
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Electrochemical Skin Conductance as a Marker of Painful Oxaliplatin-Induced Peripheral Neuropathy by Jean-Baptiste Delmotte, Abdulkarim Tutakhail, Kahina Abdallah, Pauline Reach, Marguerite D’Ussel, Gael Deplanque, Hélène Beaussier, François Coudoré

“…In this context, we conducted Canaloxa study, a prospective preliminary clinical trial that aimed to investigate how Electrochemical Skin Conductance (ESC), a parameter used in small fiber neuropathy assessment, could be helpful in OIPN diagnosis. Methods. Cancer patients treated for at least three months with oxaliplatin and suffering from clinically OIPN were included. …”
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The Challenges of Living with Inflammatory Bowel Disease: Summary of a Summit on Patient and Healthcare Provider Perspectives by Judith Bray, Aida Fernandes, Geoffrey C. Nguyen, Anthony R. Otley, Joan Heatherington, Jennifer Stretton, Natasha Bollegala, Eric I. Benchimol

“…There is currently no cure for IBD, although earlier diagnosis and new therapies have improved the overall health outcomes and quality of life for patients. …”
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Hybrid optimized artificial neural network using Latin hypercube sampling and Bayesian optimization for detection, classification and location of faults in transmission lines by Abdul Yussif Seidu, Elvis Twumasi, Emmanuel Assuming Frimpong

“…The proposed method advances the accuracy and efficiency of fault diagnosis in power systems, representing a significant step forward compared to conventional approaches. …”
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A narrative review about cognitive impairment in Metabolic Dysfunction–Associated Steatotic Liver Disease (MASLD): Another matter to face through a holistic approach by Marica Meroni, Miriam Longo, Erika Paolini, Paola Dongiovanni

“…Chronic systemic inflammation, hyperammonemia, genetic background and intestinal dysbiosis possibly contribute to the cognitive decline in MASLD patients. However, its diagnosis is still underestimated since the leading mechanisms are multi-faceted and unexplained and do not exist standardized diagnostic tools or cognitive test strategies. …”
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APOEε4 alters ApoE and Fabp7 in frontal cortex white matter in prodromal Alzheimer's disease by Marta Moreno-Rodriguez, Sylvia E. Perez, Michael Malek-Ahmadi, Elliott J. Mufson

“…To evaluate the effects of APOEε4 on ApoE, Fabp7 and myelin in the WM of the frontal cortex (FC), we examined individuals carrying one ε4 allele that came to autopsy with a premortem clinical diagnosis of no cognitive impairment (NCI), mild cognitive impairment (MCI) and mild to moderate AD compared with non-carrier counterparts. …”
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Lived experiences of people with chronic kidney disease on maintenance dialysis: a systematic review and thematic synthesis of qualitative studies by Maya Annie Elias, Wim Van Damme, Grace Marie V Ku, Mahesh Kadammanavar, Edwin Wouters

“…Results A total of 59 studies were included, and the following key themes were identified: 1) disrupted biographies among people on dialysis, which included: (a) diagnosis and initiation of dialysis, (b) disabling physical symptoms and functional limitations, (c) impaired socio-occupational functioning, (d) uncertainty and psychological distress, and (e) changes in self-image and identity; and 2) biographical repair, which included: (a) coping with CKD and dialysis, (b) coping styles, and (c) coping strategies. …”
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Exploring adherence in patients with advanced breast cancer: focus on CDK4/6 inhibitors by Baković Matea, Bago Martina, Benić Lucija, Krajinović Magdalena, Silovski Tajana, Plavetić Natalija Dedić, Turković Lu, Sertić Miranda, Hadžiabdić Maja Ortner

“…Treatment adherence is crucial for optimal outcomes in advanced breast cancer, but can be challenging due to various factors, i.e. patients’ attitudes and behavior upon diagnosis, and complex therapies with high adverse effect rates. …”
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Does Current General Mental Health Status Relate to Current Smoking Status in Pregnant Women? by Diane Liu, Emily Younger, Stacy Baker, Stephanie Touch, Tamara Willmoth, Jessica L. Hartos

“…Multiple logistic regression analysis was used to assess the relationship between current mental health status and current tobacco use, while controlling for state, depression diagnosis, routine checkup, healthcare plan, age, marital status, ethnicity/race, education level, income level, and employment status. …”
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External Validation of Deep Learning Models for Classifying Etiology of Retinal Hemorrhage Using Diverse Fundus Photography Datasets by Pooya Khosravi, Nolan A. Huck, Kourosh Shahraki, Elina Ghafari, Reza Azimi, So Young Kim, Eric Crouch, Xiaohui Xie, Donny W. Suh

“…Both models exhibited strong sensitivity and specificity, indicating their potential utility in clinical settings for accurate RH diagnosis. This study underscores the importance of external validation in enhancing the reliability and applicability of AI models in ophthalmology, paving the way for improved patient care and outcomes.…”
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Possible Threats of IgA Vasculitis in Children: One Center Experience by Eglė Lanzbergaitė-Manuilova, Skirmantė Rusonienė, Augustina Jankauskienė

“…During two years of surveillance after IgAV diagnosis, 11 cases (4.6%) had indications for kidney biopsy and were diagnosed with IgAV nephritis. …”
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