How do face masks impact communication amongst deaf/HoH people?

Face coverings have been key in reducing the spread of COVID-19. At the same time, they have hindered interpersonal communication, particularly for those who rely on speechreading to aid communication. The available research indicated that deaf/hard of hearing (HoH) people experienced great difficulty communicating with people wearing masks and negative effects on wellbeing. Here we extended these findings by exploring which factors predict deaf/HoH people’s communication difficulties, loss of information, and wellbeing. We also explored the factors predicting perceived usefulness of transparent face coverings and alternative ways of communicating. We report the findings from an accessible survey study, released in two written and three signed languages. Responses from 395 deaf/HoH UK and Spanish residents were collected online at a time when masks were mandatory. We investigated whether onset and level of deafness, knowledge of sign language, speechreading fluency, and country of residence predicted communication difficulties, wellbeing, and degree to which transparent face coverings were considered useful. Overall, deaf/HoH people and their relatives used masks most of the time despite greater communication difficulties. Late-onset deaf people were the group that experienced more difficulties in communication, and also reported lower wellbeing. However, both early- and late-onset deaf people reported missing more information and feeling more disconnected from society than HoH people. Finally, signers valued transparent face shields more positively than non-signers. The latter suggests that, while seeing the lips is positive to everyone, signers appreciate seeing the whole facial expression. Importantly, our data also revealed the importance of visual communication other than speechreading to facilitate face-to-face interactions

Integrated psychological intervention programme for frontline healthcare workers during the COVID-19 pandemic. A qualitative study

Introduction: The outbreak of the COVID-19 pandemic put at risk the resilience of healthcare professionals by exposing them to high levels of stress. Our aim was to identify key elements for implementing the STEP  programme, a psychological support service for healthcare professionals. Methods: qualitative design.  The study participants were hospital healthcare staff. Anonymous questionnaires and transcriptions  of group interventions and focus groups were used to  identify professionals’ preferences to receiving psychological support, needs, concerns, resilience (STEP1.0); constrained emotions and associated thoughts (STEP1.5); perception of self-efficacy on managing emotions (STEP2.0); and the professionals’ profile requiring individual therapy. Results: Three hundred professionals participated in the study, 100.0% in STEP 1.0 , 27.3% in STEP 1.5, 2.7% in STEP 2.0, and 10.0% in individual interventions. Two hundred and three (67.7%) participants reflected in the survey that they would prefer access to a face-to-face psychological service during working hours. Three consecutive phases with specific needs and concerns were identified: The “cognitive” phase, at the beginning of the pandemic, when infection and self-efficacy were major concerns, the “ventilation” phase, when constrained emotions associated with several factors were expressed; and the “recovery” phase, when the clinical overload decreased and professionals were able to focus on emotion management training. Several personal characteristics associated with referral to individual therapy were identified.  Conclusions: The key characteristics of a psychological support service are proximity, face-to-face interaction during working shifts, and a chronological phase system adapted to different emerging needs

Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma

High-throughput sequencing of cell-free DNA (cfDNA) has emerged as a promising noninvasive approach in lymphomas, being particularly useful when a biopsy specimen is not available for molecular analysis, as it frequently occurs in primary mediastinal large B-cell lymphoma (PMBL). We used cfDNA for genomic characterization in 20 PMBL patients by means of a custom NGS panel for gene mutations and low-pass whole-genome sequencing (WGS) for copy number analysis (CNA) in a real-life setting. Appropriate cfDNA to perform the analyses was obtained in 18/20 cases. The sensitivity of cfDNA to detect the mutations present in paired FFPE samples was 69% (95% CI: 60-78%). The mutational landscape found in cfDNA samples was highly consistent with that of the tissue, with the most frequently mutated genes being B2M (61%), SOCS1 (61%), GNA13 (44%), STAT6 (44%), NFKBIA (39%), ITPKB (33%), and NFKBIE (33%). Overall, we observed a 75% concordance to detect CNA gains/losses between DNA microarray and low-pass WGS. The sensitivity of low-pass WGS was remarkably higher for clonal CNA (18/20, 90%) compared to subclonal alterations identified by DNA microarray. No significant associations between cfDNA amount and tumor burden or outcome were found. cfDNA is an excellent alternative source for the accurate genetic characterization of PMBL cases

Escala del impacto de los síntomas percibidos en la esquizofrenia. Escala PRISS.

Objetivos Analizar las propiedades psicométricas de la escala PRISS (Patient-Reported Impact of Symptoms in Schizophrenia), que evalúa el impacto de las experiencias subjetivas en personas con esquizofrenia. Metodología La PRISS mide la presencia, frecuencia, preocupación e interferencia en la vida diaria de las experiencias subjetivas relacionadas con los principales síntomas que presentan las personas con esquizofrenia. Se realizó un estudio transversal en 162 pacientes diagnosticados de esquizofrenia, en España. El análisis psicométrico incluyó la fiabilidad test-retest, la consistencia interna y la validez estructural y convergente. Resultados La escala PRISS, de 28 ítems, mostró una buena fiabilidad test-retest ya que el 64,3% de los valores del coeficiente de correlación intraclase estuvieron entre 0,40 y 0,79, los cuales fueron estadísticamente significativos (p < 0,01). El análisis de la validez estructural reveló una estructura de tres factores, (1) experiencias productivas, (2) experiencias afectivo-negativas y (3) excitación, que representaron el 56,11% de la varianza. El factor 2 (experiencias afectivo-negativas) fue el que presentó una mejor consistencia interna. Los resultados del coeficiente de correlación Kappa entre la Escala de Síndrome Positivo y Negativo (PANSS) y la PRISS fue de 0,21 a 0,40 para la mitad de los ítems y entre 0,01 a 0,20 para la otra mitad. Los coeficientes de correlación de Pearson analizados entre la PRISS y la PANSS, la Escala para la Evaluación de Síntomas Negativos (SANS) y la Evaluación de Discapacidad de la Organización Mundial de la Salud (OMS-DAS) fueron estadísticamente significativos (p < 0,05) en el 72,2%. Conclusiones Nuestros resultados indican que la PRISS es una escala breve, fiable y válida para medir experiencias subjetivas en esquizofrenia y proporciona información valiosa complementaria a la evaluación clínica realizada por los profesionales.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech

Genomic landscape of follicular lymphoma across a wide spectrum of clinical behaviors

While some follicular lymphoma (FL) patients do not require treatment or experience prolonged responses, others relapse early, and little is known about genetic alterations specific to patients with a particular clinical behavior. We selected 56 grade 1–3A FL patients according to their need of treatment or timing of relapse: never treated (n = 7), non-relapsed (19), late relapse (14), early relapse or POD24 (11), and primary refractory (5). We analyzed 56 diagnostic and 12 paired relapse lymphoid tissue biopsies and performed copy number alteration (CNA) analysis and next generation sequencing (NGS). We identified six focal driver losses (1p36.32, 6p21.32, 6q14.1, 6q23.3, 9p21.3, 10q23.33) and 1p36.33 copy-neutral loss of heterozygosity (CN-LOH). By integrating CNA and NGS results, the most frequently altered genes/regions were KMT2D (79%), CREBBP (67%), TNFRSF14 (46%) and BCL2 (40%). Although we found that mutations in PIM1, FOXO1 and TMEM30A were associated with an adverse clinical behavior, definitive conclusions cannot be drawn, due to the small sample size. We identified common precursor cells harboring early oncogenic alterations of the KMT2D, CREBBP, TNFRSF14 and EP300 genes and 16p13.3-p13.2 CN-LOH. Finally, we established the functional consequences of mutations by means of protein modeling (CD79B, PLCG2, PIM1, MCL1 and IRF8). These data expand the knowledge on the genomics behind the heterogeneous FL population and, upon replication in larger cohorts, could contribute to risk stratification and the development of targeted therapies.This study was supported by Marató TV3-Cancer (201904-30 to SB), Fundación Asociación Española Contra el Cancer AECC/CIBERONC: PROYE18020BEA (to SB), Generalitat de Catalunya Suport Grups de Recerca AGAUR (2021-SGR-01293 to S.B.), Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III, “Cofinanciado por la Unión Europea” and Fondos FEDER: European Regional Development Fund “Una manera de hacer Europa”: PI17/01061 (SB), PI19/00887 (ALG and EG), INT20/00050 to AL-G). CL is supported by postdoctoral Beatriu de Pinós grant from Secretaria d’Universitats i Recerca del Departament d’Empresa i Coneixement de la Generalitat de Catalunya and by Marie Sklodowska-Curie COFUND program from H2020 (2018-BP-00055). EC is an Academia Researcher of the “Institució Catalana de Recerca i Estudis Avançats” of the Generalitat de Catalunya. This work was mainly developed at the Centre Esther Koplowitz (CEK), Barcelona, Spain.Peer reviewe

Impact of the implementation of electronic guidelines for cardiovascular prevention in primary care: study protocol

Background The electronic medical records software of the Catalan Institute of Health has recently incorporated an electronic version of clinical practice guidelines (e-CPGs). This study aims to assess the impact of the implementation of e-CPGs on the diagnosis, treatment, control and management of hypercholesterolaemia, diabetes mellitus type 2 and hypertension.Methods Eligible study participants are those aged 35–74 years assigned to family practitioners (FPs) of the Catalan Institute of Health. Routinely collected data from electronic primary care registries covering 80% of the Catalan population will be analysed using two approaches: (1) a cross-sectional study to describe the characteristics of the sample before e-CPG implementation; (2) a controlled before-and-after study with 1-year follow-up to ascertain the effect of e-CPG implementation. Patients of FPs who regularly use the e-CPGs will constitute the intervention group; the control group will comprise patients assigned to FPs not regularly using the e-CPG. The outcomes are: (1) suspected and confirmed diagnoses, (2) control of clinical variables, (3) requests for tests and (4) proportions of patients with adequate drug prescriptions.Results This protocol should represent a reproducible process to assess the impact of the implementation of e-CPGs. We anticipate reporting results in late 2013.Conclusion This project will assess the effectiveness of e-CPGs to improve clinical decisions and healthcare procedures in the three disorders analysed. The results will shed light on the use of evidence-based medicine to improve clinical practice of FPs

Genomic complexity and IGHV mutational status are key predictors of outcome of chronic lymphocytic leukemia patients with TP53 disruption.

The clinical course of chronic lymphocytic leukemia (CLL) is extremely heterogeneous and while some patients achieve a normal lifespan, others succumb to the disease shortly after diagnosis. Recurrent chromosomal aberrations as detected by chromosome banding analysis (CBA) or fluorescent in situ hybridization (FISH) have a reproducible prognostic power in terms of response to therapy and survival.1–3 In particular, patients whose tumor cells harbor 17p deletions (17p-) are considered to have a shorter survival and, hence, high-risk CLL. This poor prognosis is, however, not universally true for all patients with 17p- CLL. Indeed, we and others have observed that some clinical-biological features, such as presence of B symptoms, advanced clinical stage, size of the 17p- clone, β2-microglobulin (β2M) concentration and IGH mutational status have a significant impact on the outcome of this subgroup of patients.4,5 Novel molecular studies have helped in the understanding of 17p- CLL. On one hand, TP53 mutations are present in more than 80% of cases with 17p deletion and in around 5% of patients without 17p deletion.6,7 On the other hand, next generation sequencing studies have revealed novel genetic aberrations such as NOTCH1 and SF3B1 mutations that have a negative impact on survival.8–10 Finally, genomic complexity, as defined by karyotyping1 or copy number (CN) arrays, has also been independently associated with disease transformation and poor outcome in patients with CLL.11,12 The aim of this study was to evaluate the prognostic value of concomitant molecular abnormalities in patients with CLL and TP53 aberrations as diagnosed by FISH, CBA or DNA sequencing

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes.

The discovery of drivers of cancer has traditionally focused on protein-coding genes1-4. Here we present analyses of driver point mutations and structural variants in non-coding regions across 2,658 genomes from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium5 of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). For point mutations, we developed a statistically rigorous strategy for combining significance levels from multiple methods of driver discovery that overcomes the limitations of individual methods. For structural variants, we present two methods of driver discovery, and identify regions that are significantly affected by recurrent breakpoints and recurrent somatic juxtapositions. Our analyses confirm previously reported drivers6,7, raise doubts about others and identify novel candidates, including point mutations in the 5' region of TP53, in the 3' untranslated regions of NFKBIZ and TOB1, focal deletions in BRD4 and rearrangements in the loci of AKR1C genes. We show that although point mutations and structural variants that drive cancer are less frequent in non-coding genes and regulatory sequences than in protein-coding genes, additional examples of these drivers will be found as more cancer genomes become available

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

Quality indicators for patient safety in primary care. A review and Delphi-survey by the LINNEAUS collaboration on patient safety in primary care

FADQWe reviewed the literature using the Catalan model as starting point and then using consensus development, to identify the PSI domains that would be relevant in a European context. Our search strategy included searches in Medline, free searches over the Internet and the grey literature. We included a range of descriptive studies, a systematic review, reviews and reports from government websites from the UK, Australia, Canada, the United States and Spain; key international organizations such as the World Health Organization, Organization for Economic Cooperation and Development, Council of Europe and Commonwealth Fund International and international projects funded by the European Commission.The research leading to these results has received funding from the European Community's Seventh Framework Programme FP7/2008 2012 under grant agreement no. 223424.Background: Quality indicators are measured aspects of healthcare, reflecting the performance of a healthcare provider or healthcare system. They have a crucial role in programmes to assess and improve healthcare. Many performance measures for primary care have been developed. Only the Catalan model for patient safety in primary care identifies key domains of patient safety in primary care.Objective: To present an international framework for patient safety indicators in primary care.Methods: Literature review and online Delphi-survey, starting from the Catalan model.Results: A set of 30 topics is presented, identified by an international panel and organized according to the Catalan model for patient safety in primary care. Most topic areas referred to specific clinical processes; additional topics were leadership, people management, partnership and resources.Conclusion: The framework can be used to organize indicator development and guide further work in the field