La colección de referencia a la Biblioteca de Catalunya

L'aparició de les noves tecnologies ha fet replantejar la política de formació de la col·lecció de referència a les biblioteques. Els nous suports electrònics i Internet han fet davallar l'adquisició d'obres en paper i l'espai necessari per a acollir-les. Des dels seus inicis, la Biblioteca de Catalunya es preocupa pel que Rubió anomena la biblioteca de mà. Els criteris de selecció són rigorosos i científics, i representen una democratització del que ha d'estar a l'abast del públic. Durant el franquisme, les obres de referència creixen considerablement. Com que és un referent per al món universitari, incorpora col·leccions úniques a Catalunya. Amb la Llei de biblioteques i la definició com a biblioteca nacional es fa una remodelació de la secció i s'estableixen uns criteris per a la tria de la col·lecció. Tot això coincideix amb el sorgiment de les noves tecnologies i amb un canvi notable de públics i dels seus interessos. L'article fa una anàlisi històrica del que ha estat, a la Biblioteca de Catalunya, la biblioteca de mà fins als nostres dies i reflexiona sobre el que ha de constituir la nova col·lecció de referència (física i virtual), alhora que intenta establir criteris científics per a la seva selecció.The introduction of technology has led to a reassessment of policies for collection development of reference works in libraries. The new electronic media and internet have led to a reduction of paper-based works being acquired, as well as of space needed to housing them. From its beginnings, the Library of Catalonia (BC) has been concerned with what Rubio called the «Library in hand». Selection criteria are rigorous and strictly applied, and have had a democratizing effect regarding what should be available to the public. During the Franco regime, reference works grew considerably. Being a reference for the university world, collections were introduced that were unique in Catalonia. With the Law of libraries and the BC defined as the national library, the reference section was remodeled and criteria were established for selecting new works. This coincided with the introduction of new technologies and with notable changes of both the public served and the interests of its members. An historical analysis is presented of what had gone on before in the BC –the library in hand– up through the present time, and the authors reflect on what should constitute the new reference collection (both physical and virtual), while at the same time attempting to establish scientific criteria for the selection process.La aparición de las tecnologías ha hecho replantear la política de formación de la colección de referencia en las bibliotecas. Los nuevos soportes electrónicos e Internet han hecho disminuir la adquisición de obras en papel y el espacio necesario para acogerlas. Desde sus inicios, la Biblioteca de Catalunya se preocupa por lo que Rubió denomina la biblioteca de mano. Los criterios de selección son rigurosos y científicos, y representan una democratización de lo que ha de estar al alcance del público. Durante el franquismo, las obras de referencia crecen considerablemente. Al ser un referente para el mundo universitario, incorpora colecciones únicas a Cataluña. Con la Llei de biblioteques y su definición como biblioteca nacional se remodela la sección y se establecen unos criterios para la selección de la colección. Todo esto coincide con la aparición de nuevas tecnologías y con un cambio notable del público y de sus intereses. Se hace un análisis histórico de lo que ha sido, en la Biblioteca de Catalunya, la biblioteca de mano hasta nuestros días, y reflexiona sobre lo que ha de constituir la nueva colección de referencia (física y virtual), a la vez que intenta establecer criterios científicos para su selección

Notificaciones de errores de medicación en Cataluña durante el año 2017

Errors de medicació; Prevenció; CatalunyaErrores de medicación; Prevención; CataluñaMedication errors; Prevention; CataloniaArticle que parla sobre les notificacions d’errors de medicació a Catalunya durant l’any 2017. Les classificacions de les notificacions rebudes segons les causes que produeixen els errors, segons la gravetat, segons l’edat del pacient, segons els medicaments implicats, segons el lloc d’origen de la notificació, segons el professional que realitza la notificació, segons el risc i segons la probabilitat que es produeixi l’incident.Artículo que habla sobre las notificaciones de errores de medicación en Cataluña durante el año 2017. Las clasificaciones de las notificaciones recibidas según las causas que producen los errores, según la gravedad, según la edad del paciente, según los medicamentos implicados, según el lugar de origen de la notificación, según el profesional que realiza la notificación, según el riesgo y según la probabilidad de que se produzca el incidenteArticle that talks about the notifications of medication errors in Catalonia during the year 2017. The classifications of the notifications received according to the causes that produce the errors, according to the severity, according to the age of the patient, according to the medications involved, according to the place of origin of the notification, according to the professional who makes the notification, according to the risk and according to the probability of the incident occurrin

Scaling new heights in the genetic diagnosis of inherited retinal dystrophies

During the last 20 years, our group has focused on identifying the genes and mutations causative of inherited retinal dystrophies (IRDs). By applying massive sequencing approaches (NGS) in more than 500 familial and sporadic cases, we attained high diagnostic efficiency (85%) with a custom target gene panel and over 75% using whole exome sequencing (WES). Close to 40% of pathogenic alleles are novel mutations, which demand specific in silico tests and in vitro assays. Notably, missense variants are by far the most common type of mutation identified (around 40%), with small in-frame indels being less frequent (2%). To fill the gap of unsolved cases, when no candidate gene or only a single pathogenic allele has been identified, additional scientific and technical issues remain to be addressed. Reliable detection of genomic rearrangements and copy number variants (partial or complete), deep intronic mutations, variants that cause aberrant splicing events in retina-specific transcripts, functional assessment of hypomorphic missense alleles, mutations in regulatory sequences, the contribution of modifier genes to the IRD phenotype, and detection of low heteroplasmy mtDNA mutations are among the new challenges to be met

Combined genetic and high-throughput strategies for the molecular diagnosis of inherited retinal dystrophies

Most diagnostic laboratories are confronted with the increasing demand for molecular diagnosis from patients and families and the ever-increasing genetic heterogeneity of visual disorders. Concerning Retinal Dystrophies (RD), almost 200 causative genes have been reported to date, and most families carry private mutations. We aimed to approach RD genetic diagnosis using all the available genetic information to prioritize candidates for mutational screening, and then restrict the number of cases to be analyzed by massive sequencing. We constructed and optimized a comprehensive cosegregation RD-chip based on SNP genotyping and haplotype analysis. The RD-chip allows to genotype 768 selected SNPs (closely linked to 100 RD causative genes) in a single cost-, time-effective step. Full diagnosis was attained in 17/36 Spanish pedigrees, yielding 12 new and 12 previously reported mutations in 9 RD genes. The most frequently mutated genes were USH2A and CRB1. Notably, RD3-up to now only associated to Leber Congenital Amaurosis- was identified as causative of Retinitis Pigmentosa. The main assets of the RD-chip are: i) the robustness of the genetic information that underscores the most probable candidates, ii) the invaluable clues in cases of shared haplotypes, which are indicative of a common founder effect, and iii) the detection of extended haplotypes over closely mapping genes, which substantiates cosegregation, although the assumptions in which the genetic analysis is based could exceptionally lead astray. The combination of the genetic approach with whole exome sequencing (WES) greatly increases the diagnosis efficiency, and revealed novel mutations in USH2A and GUCY2D. Overall, the RD-chip diagnosis efficiency ranges from 16% in dominant, to 80% in consanguineous recessive pedigrees, with an average of 47%, well within the upper range of massive sequencing approaches, highlighting the validity of this time- and cost-effective approach whilst high-throughput methodologies become amenable for routine diagnosis in medium sized labs

Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1

Aims: The aim of this study was the genetic diagnosis by next generation sequencing (NGS) of a patient diagnosed with Usher syndrome type 2 and the functional evaluation of the identified genetic variants to establish a phenotype-genotype correlation. Methods: Whole exome sequencing (WES) analysis identified two heterozygous intronic variants in CDH23, a gene responsible of Usher syndrome type 1. Evaluation of the putative splicing effects was performed in vivo, in whole blood samples, and in vitro, by transfection of midigene constructs in HEK293T cells. Results: Two intronic variants were identified in intron 45 of CDH23-one novel, c.6050-15G>A, and the other, c.6050-9G>A, already reported as a noncanonical splice site (NCSS) mutation-with partial functional characterization. In vivo and in vitro analyses showed aberrant transcripts by the addition of 13 and 7 nucleotides to exon 46, respectively. Transcript degradation by nonsense mediated decay (NMD) in blood cells could only be prevented by cycloheximide treatment. Midigene constructs showed that the two variants contributed to exon skipping and generated aberrantly spliced transcripts. Conclusions: A combination of in vivo and in vitro assays provided a comprehensive view of the physiological effects of NCSS variants, which in this case led to a clinical reassignment of the proband as affected with atypical USH1 syndrome

Data and care integration for post-acute intensive care program of stroke patients: effectiveness assessment using a disease-matched comparator cohort

Sistemes d'informació, Atenció integrada; Ictus; Atenció domiciliàriaSistemas de información; Atención integrada; Ictus; Atención domiciliariaInformation systems; Integrated care; Stroke; Domiciliary carePurpose: to assess the effectiveness of an integrated care program for post-acute care of stroke patients, the return home program (RHP program), deployed in Barcelona (North-East Spain) between 2016 and 2017 in a context of health and social care information systems integration. Design/methodology/approach: the RHP program was built around an electronic record that integrated health and social care information (with an agreement for coordinated access by all stakeholders) and an operational re-design of the care pathways, which started upon hospital admission instead of discharge. The health outcomes and resource use of the RHP program participants were compared with a population-based matched control group built from central healthcare records of routine care data. Findings: the study included 92 stroke patients attended within the RHP program and the patients’ matched controls. Patients in the intervention group received domiciliary care service, home rehabilitation, and telecare significantly earlier than the matched controls. Within the first two years after the stroke episode, recipients of the RHP program were less frequently institutionalized in a long-term care facility (5 vs 15%). The use of primary care services, non-emergency transport, and telecare services were more frequent in the RHP group

Increasing the genetic diagnosis yield in inherited retinal dystrophies: assigning pathogenicity to novel non-canonical splice site variants

Aims: We aimed to validate the pathogenicity of genetic variants identified in inherited retinal dystrophy (IRD) patients, which were located in non-canonical splice sites (NCSS). Methods: After next generation sequencing (NGS) analysis (target gene panels or whole exome sequencing (WES)), NCSS variants were prioritized according to in silico predictions. In vivo and in vitro functional tests were used to validate their pathogenicity. Results: Four novel NCSS variants have been identified. They are located in intron 33 and 34 of ABCA4 (c.4774-9G>A and c.4849-8C>G, respectively), intron 2 of POC1B (c.101-3T>G) and intron 3 of RP2 (c.884-14G>A). Functional analysis detected different aberrant splicing events, including intron retention, exon skipping and intronic nucleotide addition, whose molecular effect was either the disruption or the elongation of the open reading frame of the corresponding gene. Conclusions: Our data increase the genetic diagnostic yield of IRD patients and expand the landscape of pathogenic variants, which will have an impact on the genotype-phenotype correlations and allow patients to opt for the emerging gene and cell therapies

Notificacions dʼerrors de medicació a Catalunya durant el període 2010-2014

Seguretat; Pacient; Sistemes de notificacióSafety; Patient; Notification systemsSeguridad; Paciente; Sistemas de notificaciónUn error de medicació (EM) és qualsevol incident prevenible que pot donar lloc a una utilització inapropiada dels medicaments i que pot causar dany al pacient. Lʼobjectiu de lʼarticle és descriure les notificacions dʼEM que sʼhan realitzat a través del Programa de prevenció dʼerrors de medicació de Catalunya durant el període 2010-2014. Durant aquests 5 anys sʼhan registrat un total de 7.609 notificacions dʼEM. En un 97,2% dels casos notificats, lʼEM no ha produït cap lesió al pacient i el 68,6% dels EM notificats, a més de no produir cap lesió, ni tan sols ha arribat al pacient. Els principals EM es produeixen en el moment de la prescripció del medicament i en el moment de la seva administració. Majoritàriament les notificacions provenen de lʼàmbit hospitalari i tant els farmacèutics com el personal dʼinfermeria són els principals professionals sanitaris que realitzen aquestes notificacions. Les notificacions dʼEM són una font dʼinformació de gran utilitat per poder implantar mesures de prevenció en matèria de seguretat de pacients i del medicament.A medication error (ME) is any foreseeable incident that may result in improper use of drugs and that can cause harm to the patient. The aim of this article is to describe notifications of ME that have been made through the Catalonia medication error prevention programme during the 2010-2014 period. Over the past 5 years 7,609 notifications of ME have been recorded. In 97.2% of the reported cases, ME did not produce any kind of injury to the patient, and in 68.6% of the cases, in addition to not resulting in injury, the ME did not reach the patient. The main MEs occur in relation to prescription of the medication and to administration. The majority of notifications come from the hospital setting, with pharmacists and nurses the major health professionals reporting. Notifications of ME are a source of useful information for implementing prevention measures patient safety and medication.Un error de medicación (EM) es cualquier incidente previsible que puede dar lugar a un uso inapropiado de los medicamentos y que puede causar un daño al paciente. El objetivo del presente artículo es describir las notificaciones de EM que se han realizado a través del Programa de prevención de errores de medicación de Catalunya durante el periodo 2010-2014. A lo largo de estos 5 años se han registrado 7.609 notificaciones de EM. En un 97,2% de los casos notificados, el EM no ha producido ningún tipo de lesión al paciente y, en el 68,6% de los casos, además de no producirse lesión, el EM no ha llegado al paciente. Los principales EM se producen en el momento de la prescripción del medicamento y en el momento de su administración. La mayoría de las notificaciones provienen del ámbito hospitalario, siendo tanto los farmacéuticos como el personal de enfermería los principales profesionales sanitarios que notifican. Las notificaciones de EM son una fuente de información de gran utilidad para poder implantar medidas de prevención en materia de seguridad de pacientes y del medicamento

A les barricades! Anarquisme a Catalunya

Exposició organitzada per la Biblioteca de Comunicació i Hemeroteca General entre el 22 de maig i el 31 de juliol de 2023 a les vitrines de la planta baix

Excess mortality among older adults institutionalized in long-term care facilities during the COVID-19 pandemic: a population-based analysis in Catalonia

Objectives: To assess excess mortality among older adults institutionalized in nursing homes within the successive waves of the COVID-19 pandemic in Catalonia (north-east Spain).Design: Observational, retrospective analysis of population-based central healthcare registries.Setting and participants: Individuals aged >65 years admitted in any nursing home in Catalonia between January 1, 2015, and April 1, 2022.Methods Deaths reported during the pre-pandemic period (2015-2019) were used to build a reference model for mortality trends (a Poisson model, due to the event counting nature of the variable mortality), adjusted by age, sex, and clinical complexity, defined according to the adjusted morbidity groups. Excess mortality was estimated by comparing the observed and model-based expected mortality during the pandemic period (2020-2022). Besides the crude excess mortality, we estimated the standardized mortality rate (SMR) as the ratio of weekly deaths' number observed to the expected deaths' number over the same period.Results: The analysis included 175,497 older adults institutionalized (mean 262 days, SD 132), yielding a total of 394,134 person-years: 288,948 person-years within the reference period (2015-2019) and 105,186 within the COVID-19 period (2020-2022). Excess number of deaths in this population was 5,403 in the first wave and 1,313, 111, -182, 498, and 329 in the successive waves. The first wave on March 2020 showed the highest SMR (2.50; 95% CI 2.45-2.56). The corresponding SMR for the 2nd to 6th waves were 1.31 (1.27-1.34), 1.03 (1.00-1.07), 0.93 (0.89-0.97), 1.13 (1.10-1.17), and 1.07 (1.04-1.09). The number of excess deaths following the first wave ranged from 1,313 (2nd wave) to -182 (4th wave). Excess mortality showed similar trends for men and women. Older adults and those with higher comorbidity burden account for higher number of deaths, albeit lower SMRs.Conclusion: Excess mortality analysis suggest a higher death toll of the COVID-19 crisis in nursing homes than in other settings. Although crude mortality rates were far higher among older adults and those at higher health risk, younger individuals showed persistently higher SMR, indicating an important death toll of the COVID-19 in these groups of people