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Single-cell multi-omics defines the cell-type-specific impact of splicing aberrations in human hematopoietic clonal outgrowths
Cell Stem Cell. 2023 Aug 9:S1934-5909(23)00257-6. doi: 10.1016/j.stem.2023.07.012. Online ahead of print.ABSTRACTRNA splicing factors are recurrently mutated in clonal blood disorders, but the impact of dysregulated splicing in hematopoiesis remains unclear. To overcome technical limitations, we integrated genotyping of transcriptomes (GoT) with long-read single-cell transcriptomics and proteogenomics for single-cell profiling of transcriptomes, surface proteins, somatic mutations, and RNA splicing (GoT-Splice). We applied GoT-Splice to hematopoietic progenitors from myelodysplastic syndrome (MDS) patients with mutations i...
Source: Cell Stem Cell - August 15, 2023 Category: Stem Cells Authors: Mariela Cort és-López Paulina Chamely Allegra G Hawkins Robert F Stanley Ariel D Swett Saravanan Ganesan Tarek H Mouhieddine Xiaoguang Dai Lloyd Kluegel Celine Chen Kiran Batta Nili Furer Rahul S Vedula John Beaulaurier Alexander W Drong Scott Hickey Ne Source Type: research

The New NCI Precision Medicine Trials
Clin Cancer Res. 2023 Aug 2:CCR-23-0917. doi: 10.1158/1078-0432.CCR-23-0917. Online ahead of print.ABSTRACTBasket, umbrella, and platform trial designs (master protocols) have emerged over the last decade to study precision medicine approaches in oncology. First generation trials like NCI-MATCH have proven the principle that studying targeted therapies on a large scale is feasible both from the laboratory and clinical perspectives. However, single agent targeted therapies have shown limited ability to control metastatic disease, despite careful matching of drug to target. As such, newer approaches employing combinations of...
Source: Clinical Cancer Research - August 2, 2023 Category: Cancer & Oncology Authors: Lyndsay N Harris Charles David Blanke Harry P Erba James M Ford Robert J Gray Michael L LeBlanc Siwen Hu-Lieskovan Mark R Litzow Selina M Luger Funda Meric-Bernstam Peter J O'Dwyer Megan K D Othus Katerina Politi Lois E Shepherd Carmen J Allegra Helen X C Source Type: research

Efficacy and safety of lomitapide in pediatric patients with homozygous familial hypercolesterolemia: Is discontinuation of lipoprotein afheresis possible?
In this study, as part of the first multicenter trial in the word, we evaluated the efficacy and the safety of lomitapide on top of conventional therapy with statin, ezetimibe and lipoprotein apheresis (LA) in pediatric subjects with HoFH. (Source: Atherosclerosis)
Source: Atherosclerosis - August 1, 2023 Category: Cardiology Authors: A. Bresolin, P. Tosin, C. Portinari, M. Allegra, A. Colpo, R. Marin, S. Bertocco, L. Previato, S. Zambon, A. Zambon Source Type: research

Focus on the Most Common Paucisymptomatic Vasculopathic Population, from Diagnosis to Secondary Prevention of Complications
This study focuses on the most common ADs, in the attempt to summarize some key points which should selectively drive screening. Since the human and economic possibilities to instrumentally screen wide populations is not evident, deep knowledge of semeiotics and careful anamnesis must play a central role in our daily activity as physicians. The presence of some risk factors for atherosclerosis, or an already known history of CAD, can raise the clinical suspicion of ADs after a careful clinical history and a deep physical examination. The clinical suspicion must then be confirmed by a first-level ultrasound investigation an...
Source: Atherosclerosis - July 29, 2023 Category: Cardiology Authors: Eugenio Martelli Iolanda Enea Matilde Zamboni Massimo Federici Umberto M Bracale Giuseppe Sangiorgi Allegra R Martelli Teresa Messina Alberto M Settembrini Source Type: research

Cancers, Vol. 15, Pages 3867: Mixed-Method Systematic Review and Meta-Analysis of Shared Decision-Making Tools for Cancer Screening
Guido Van Hal This review aimed to synthesize evidence on the effectiveness of shared decision-making (SDM) tools for cancer screening and explored the preferences of vulnerable people and clinicians regarding the specific characteristics of the SDM tools. A mixed-method convergent segregated approach was employed, which involved an independent synthesis of quantitative and qualitative data. Articles were systematically selected and screened, resulting in the inclusion and critical appraisal of 55 studies. Results from the meta-analysis revealed that SDM tools were more effective for improving knowledge, reducing dec...
Source: Cancers - July 29, 2023 Category: Cancer & Oncology Authors: Deborah Jael Herrera Wessel van de Veerdonk Neamin M. Berhe Sarah Talboom Marlon van Loo Andrea Ruiz Alejos Allegra Ferrari Guido Van Hal Tags: Systematic Review Source Type: research

Self-report methodology for quantifying standardized cannabis consumption in milligrams delta-9-tetrahydrocannabinol
Conclusion: Our label-based methodology provides consumption information across all modalities of cannabis use in standard units that can be combined across products for calculation of dose. It is a viable and valid method for quantifying mg of THC consumed and can be utilized in any region where cannabis is legal, and labeling is regulated.PMID:37506343 | DOI:10.1080/00952990.2023.2232525 (Source: The American Journal of Drug and Alcohol Abuse)
Source: The American Journal of Drug and Alcohol Abuse - July 28, 2023 Category: Addiction Authors: Sarah F Larsen Allegra J Johnson Mary E Larimer Stephen R Dager Natalia M Kleinhans Source Type: research