Single arm NCRI phase II study of CHOP in combination with Ofatumumab in...
AbstractBackgroundTransformation of B-cell chronic lymphocytic leukaemia (B-CLL) to diffuse large B cell lymphoma (DLBCL) (Richter’s syndrome (RS)) is a rare (2-15% of patients) but catastrophic...
View ArticleFactors influencing success of clinical genome sequencing across a broad...
Gilean McVean and colleagues report the results of a large-scale clinical genome sequencing project spanning a broad spectrum of disorders. They identify factors influencing successful genetic...
View ArticlePatients’ Preferences for Genomic Diagnostic Testing in Chronic Lymphocytic...
AbstractBackgroundGenomic information could help to reduce the morbidity effects of inappropriate treatment decisions in many disease areas, in particular cancer. However, evidence of the benefits that...
View ArticleLateral Atrial Tunnel Fontan Operation Predisposes to the Junctional Rhythm
AbstractThe goal of the study was to compare the early postoperative course after fenestrated lateral atrial tunnel (LT) and non-fenestrated extracardiac conduit (EC) Fontan operation (FO) in a single...
View ArticleUsing Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic...
AbstractBackgroundGenomic tests may improve the stratification of patients to receive new therapies in several disease areas. However, the use of expensive targeted therapies can impact on the cost...
View ArticleWill the reformed Cancer Drugs Fund address the most common types of...
AbstractBackgroundOne of the functions of the reformed Cancer Drugs Fund in England is as a managed access fund, providing conditional funding for cancer drugs where there is uncertainty in the...
View ArticlePrognostic Markers
AbstractCLL is a clinically and biologically heterogeneous disease. Various clinical risk scores have been derived including most recently the CLL-IPI. Besides, a myriad of molecular prognostic and...
View ArticleThe STELLAR trial protocol: a prospective multicentre trial for Richter’s...
AbstractBackgroundTransformation of chronic lymphocytic leukaemia (CLL) to diffuse large B-cell lymphoma (DLCBL) type Richter’s syndrome (RS) carries a dismal prognosis. Standard-of-care...
View ArticleIdelalisib addition has neutral to beneficial effects on quality of life in...
AbstractBackgroundIn a phase 3 randomized, double-blind, placebo-controlled trial, treatment with idelalisib, a phosphoinositol-3 kinase δ inhibitor, + bendamustine/rituximab improved progression-free...
View ArticleComparative analysis of somatic variant calling on matched FF and FFPE WGS...
AbstractBackgroundResearch grade Fresh Frozen (FF) DNA material is not yet routinely collected in clinical practice. Many hospitals, however, collect and store Formalin Fixed Paraffin Embedded (FFPE)...
View ArticleComparison of variables measured with a Scheimpflug device for evaluation of...
AbstractKeratoconus is a progressive ectatic corneal disorder, which can result in severe visual impairment. The new ABCD keratoconus classification system allows differentiated description of the...
View ArticleShort and long-read genome sequencing methodologies for somatic variant...
AbstractRecent advances in throughput and accuracy mean that the Oxford Nanopore Technologies PromethION platform is a now a viable solution for genome sequencing. Much of the validation of...
View ArticleUsing DNA testing for the precise, definite, and low-cost diagnosis of sickle...
AbstractBackgroundSickle cell disease (SCD) is an important cause of under-five mortality. Tanzania is the 5th country in the world with the highest births prevalence of SCD individuals. Significant...
View ArticleElectron microscopy analysis of femtosecond laser-assisted capsulotomy before...
AbstractStudying anterior lens capsule cutting edge profiles from femtosecond laser-assisted capsulotomy procedures performed before and after lens fragmentation. Twenty eyes (10 patients) with...
View ArticleSignatures of TOP1 transcription-associated mutagenesis in cancer and germline
AbstractThe mutational landscape is shaped by many processes. Genic regions are vulnerable to mutation but are preferentially protected by transcription-coupled repair1. In microorganisms,...
View ArticleA protocol to clinically evaluate liquid biopsies as a tool to speed up...
AbstractBackgroundThe capacity for invasive tissue biopsies followed by histopathology diagnosis in sub-Saharan Africa is severely limited. Consequently, many cancer patients are diagnosed late and...
View ArticleWhole-genome sequencing of chronic lymphocytic leukemia identifies subgroups...
AbstractThe value of genome-wide over targeted driver analyses for predicting clinical outcomes of cancer patients is debated. Here, we report the whole-genome sequencing of 485 chronic lymphocytic...
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