Rare diseases, either of genetic or epigenetic origin, either proliferative or degenerative, are hard to be studied credibly, because of sparse prevalence, thus, small sampling. In addition, biological or translational experimentation either with animal models, or in vitro studies share small sampling-often due to lack of financial support or due to mannered and costly techniques. Pilot or feasibility studies been performed, before expensive clinical trials are decided, focus on small samples. Small Samples Evaluator (SSEv) is a useful tool based on a modification of survival curves. The technique can be applied to repeated measures, as well as to case-control or cross-sectional designed studies. A web-based application of SSEv is created and presented herein. The application is freely accessible at: https://ssev.eu .
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http://dx.doi.org/10.1007/978-3-319-57348-9_23 | DOI Listing |
Neotrop Entomol
January 2025
Integrated Lab of Simuliidae and Onchocerciasis, Medical and Forensic Entomology, Oswaldo Cruz Institute (IOC), Oswaldo Cruz Foundation (Fiocruz), Rio de Janeiro, RJ, Brazil.
Sexual mosaics in Simuliidae members have been detected at low frequencies in various locations worldwide. These phenotypic expressions are expected in very small amounts in any natural insect population and may result from inherent individual formation factors, such as hormonal or external elements, i.e.
View Article and Find Full Text PDFAnn Hematol
January 2025
Service de Thérapie Cellulaire et d'Hématologie Clinique, CHU Estaing, Clermont-Ferrand, France.
The advent of BTK inhibitors has been transformative in the management of patients with chronic lymphocytic leukemia or other B-cell lymphoproliferative disorders. However, emergence of BTK or PLCG2 mutations lead to resistance to these compounds and are now a growing concern in clinical practice. Assessing BTK mutations is now becoming a priority to guide the therapeutic decision at further relapse.
View Article and Find Full Text PDFDiabetologia
January 2025
MRC Epidemiology Unit, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Aims/hypothesis: UK standard care for type 2 diabetes is structured diabetes education, with no effects on HbA, small, short-term effects on weight and low uptake. We evaluated whether remotely delivered tailored diabetes education combined with commercial behavioural weight management is cost-effective compared with current standard care in helping people with type 2 diabetes to lower their blood glucose, lose weight, achieve remission and improve cardiovascular risk factors.
Methods: We conducted a pragmatic, randomised, parallel two-group trial.
J Neurol
January 2025
Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Fundació de Recerca Clínic - Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Villaroel 170, 08036, Barcelona, Spain.
Plasma tau phosphorylated at threonine 181 (p-tau181) and 217 (p-tau217) have demonstrated high accuracy for Alzheimer's disease (AD) diagnosis, defined by CSF/PET amyloid beta (Aβ) positivity, but most studies have been performed in research cohorts, limiting their generalizability. We studied plasma p-tau217 and p-tau181 for CSF Aβ status discrimination in a cohort of consecutive patients attending an academic memory clinic in Spain (July 2019-June 2024). All patients had CSF AD biomarkers performed as part of their routine clinical assessment.
View Article and Find Full Text PDFSci Rep
January 2025
CSIRO Mineral Resources, Brisbane, QLD, 4069, Australia.
This paper investigates the impact of treatment with chemical solutions of varying pH values on the micro-macroscopic damage in coal samples under load, employing a combination of Small Angle X-ray Scattering (SAXS) experiments and uniaxial compression tests. The experimental results show that soaking coal samples in NaOH, HCl, and distilled water for 7 days leads to reductions in uniaxial compressive strength by 39.19%, 47.
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