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Twenty-first century trends indicate that the central characteristic of contemporary education is the shift from an individual focus to a social, political, and ideological focus. Active teaching-learning methodologies, particularly with a problematizing approach, have been used in training and health professionals, as a strategy aimed at integrating knowledge and promoting a critical and reflective attitude towards practice. In view of this, the present study sought to build, standardize, and apply the problem-based learning (PBL) methodology in teaching the Medical Genetics discipline for the Medicine course at the Federal University of Espírito Santo (UFES), seeking to contribute to the consolidation of the study of genetic determinants of diseases and their applications in medical education and practice, in order to provide possible examples of medical conduct, given the different realities experienced by doctors. Through the application of PBL, students received a case study in the area of Genetic Counseling/Oncogenetics to apply their knowledge together with the use of different tools and software, in order to exemplify a model of medical conduct for that particular condition. The results indicate that the proposed class model was efficiently constructed, standardized, and applied to the third semester class of the UFES Medicine course, in which the students positively evaluated the application and use of the methodology in the proposed activity, highlighting its positive effects for medical training. The use of this class model based on the PBL methodology favors the development of the necessary skills, abilities, and attitudes recommended in the guiding documents for medical graduates, within the scope of Medical Genetics, in order to encourage the practice of personalized care in the formative years.
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http://dx.doi.org/10.1007/s40670-024-02245-z | DOI Listing |
BJOG
September 2025
Department of Obstetrics and Gynaecology, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Objective: To estimate the effect on healthcare resource use after introducing the World Health Organization diagnostic criteria (WHO-2013) for gestational diabetes mellitus (GDM) compared to former criteria in Sweden (SWE-GDM).
Design: A cost-analysis alongside the Changing Diagnostic Criteria for Gestational Diabetes (CDC4G) randomised controlled trial.
Setting: Sweden, with risk-factor based screening for GDM.
Clin Genet
September 2025
Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
LONP1 encodes a mitochondrial protease essential for protein quality control and metabolism. Variants in LONP1 are associated with a diverse and expanding spectrum of disorders, including Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS), congenital diaphragmatic hernia (CDH), and neurodevelopmental disorders (NDD), with some individuals exhibiting features of mitochondrial encephalopathy. We report 16 novel LONP1 variants identified in 16 individuals (11 with NDD, 5 with CDH), further expanding the clinical spectrum.
View Article and Find Full Text PDFStem Cell Rev Rep
September 2025
Department of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
The emergence of organoid models has significantly bridged the gap between traditional cell cultures/animal models and authentic human disease states, particularly for genetic disorders, where their inherent genetic fidelity enables more biologically relevant research directions and enhances translational validity. This review systematically analyzes established organoid models of genetic diseases across organs (e.g.
View Article and Find Full Text PDFPhotochem Photobiol Sci
September 2025
Department of Genetics and Plant Breeding, C. P. College of Agriculture, S. D. Agricultural University, Sardarkrushinagar, 385506, India.
The electromobility shift assay (EMSA) is a popular and productive molecular biology tool for studying protein-nucleic acid interactions. EMSA is a technique applied to the revelation of the binding dynamics of proteins, like transcription factors, to DNA or RNA. There are ample essential phases in the technique.
View Article and Find Full Text PDFInt J Hematol
September 2025
Bone Marrow Transplantation Center, the First Affiliated Hospital, Zhejiang University School of Medicine, No. 79 Qingchun Road, Hangzhou, 310003, China.
Patients with primary plasma cell leukemia (pPCL), particularly those with extramedullary disease (EMD), face a poor prognosis even with chimeric antigen receptor (CAR)-T cell therapy. This case report describes a patient with relapsed/refractory pPCL and life-threatening malignant pleural effusion (PE) treated with intrapleural CAR-T cells targeting B-cell maturation antigens. CAR-T cell expansion within the PE was observed, along with a rapid reduction in leukemia cell count and PE volume.
View Article and Find Full Text PDF