Epilepsy affects ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 3 Protein (NPRL3) mutation and suffering from Epilepsy verified by clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established by a non-integrative method, using plasmids carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC. The established iPSCs presented typical pluripotent cells morphology, normal karyotype, and potential to differentiate into three germ layers. Our approach offers a useful model to explore pathogenesis and therapy of Epilepsy.
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http://dx.doi.org/10.1016/j.scr.2024.103574 | DOI Listing |
BMC Health Serv Res
January 2025
Centre for Infectious Disease Control, National Institute for Public Health and the Environment, P.O. Box 1, Bilthoven, 3720 BA, The Netherlands.
HIV self-sampling and -testing (HIVSS/ST) reduces testing barriers and potentially reaches populations who may not test otherwise. In the Netherlands, at-home HIV tests became commercially available around 2016, but data on user experiences are limited. This study aimed to explore characteristics of users and their experiences with HIVSS/ST.
View Article and Find Full Text PDFBMC Cancer
January 2025
Department of Radiation Oncology, First Affiliated Hospital of Kunming Medical University, 295 Xichang Road, Kunming, 650032, P. R. China.
Introduction: The core objective of this study was to precisely locate metastatic lymph nodes, identify potential areas in nasopharyngeal carcinoma patients that may not require radiotherapy, and propose a hypothesis for reduced target volume radiotherapy on the basis of these findings. Ultimately, we reassessed the differences in dosimetry of organs at risk (OARs) between reduced target volume (reduced CTV2) radiotherapy and standard radiotherapy.
Methods And Materials: A total of 209 patients participated in the study.
BMC Med Ethics
January 2025
Ethics and Work Research Unit, Institute of Advanced Studies (EPHE), Paris, France.
Aim: To carry out a detailed study of existing positions in the French public of the acceptability of refusing treatment because of alleged futility, and to try to link these to people's age, gender, and religious practice.
Method: 248 lay participants living in southern France were presented with 16 brief vignettes depicting a cancer patient at the end of life who asks his doctor to administer a new cancer treatment he has heard about. Considering that this treatment is futile in the patient's case, the doctor refuses to prescribe it.
BMC Pulm Med
January 2025
Department of Pulmonary and Critical Care Medicine, School of Medicine, Zhongshan Hospital of Xiamen University, Xiamen University, Xiamen, Fujian, China.
Introduction: Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is commonly used for diagnosing mediastinal lymphadenopathy. Despite a low complication rate, severe hemorrhage can occur which is reported in this literature, particularly in hypervascular conditions like Castleman disease.
Methods: A 54-year-old male with idiopathic multicentric Castleman disease underwent EBUS-TBNA for mediastinal lymph node sampling.
Pituitary
January 2025
Departments of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Petersgraben 4, 4031, Basel, Switzerland.
Background: Arginine infusion stimulates copeptin secretion, a surrogate marker of arginine vasopressin (AVP), thereby serving as a diagnostic test in the differential diagnosis of suspected AVP deficiency (AVP-D). Yet, the precise mechanism underlying the stimulatory effect of arginine on the vasopressinergic system remains elusive. Arginine plays a significant role in the urea cycle and increases the production of urea.
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