Extensió de l'algorisme Minimum Distance Probability (MDP) i la seva aplicació a l'obtenció de biomarcadors.

Treballs Finals de Grau en Estadística UB-UPC, Facultat d'Economia i Empresa (UB) i Facultat de Matemàtiques i Estadística (UPC), Curs: 2015-2016, Tutor: Esteban Vegas Lozano(cat)En els últims anys han sorgit noves tecnologies d’alt rendiment que han permès la generació de grans quantitats de dades biològiques. Fet que ha motivat a la interconnexió de la bioinformática amb diferentes disciplines. La posible anàlisi d’aquestes dades ha conduït a nous grans reptes en la biología molecular i les ciències de la salut en general. En aquest context, aquest treball proposa un nou algorisme d’aprenentatge automàtic per a la classificació multinivell, efectuant una aplicación del mètode en una base de dades genòmica per a l’obtenció de biomarcadors. Finalment es proposa una aplicación web interactiva per permetre l’accessibilitat del mètode(eng)In recent years there have been new high performance technologies that have allowed the generation of large amounts of biological data. This has led to the interconnection of different disciplines with bioinformatics. The possible analysis of these data led to major new challenges in molecular biology and health sciences in general. In this context, this work proposes a new machine learning algorithm for multiclass classification, making an application method on a database for obtaining genomic biomarkers. Finally proposes an interactive web application to allow the access to the method

Sex and gender differences in the use of oral anticoagulants for non-valvular atrial fibrillation: A population-based cohort study in primary health care in Catalonia

Objectives: To describe the sex and gender differences in the treatment initiation and in the socio-demographic and clinical characteristics of all patients initiating and oral anticoagulant (OAC), and the sex and gender differences in prescribed doses and adherence and persistence to the treatment of those receiving direct oral anticoagulants (DOAC). Material and methods: Cohort study including patients with non-valvular atrial fibrillation (NVAF) who initiated OAC in 2011-2020. Data proceed from SIDIAP, Information System for Research in Primary Care, in Catalonia, Spain. Results: 123,250 people initiated OAC, 46.9% women and 53.1% men. Women were older and the clinical characteristics differed between genders. Women had higher risk of stroke than men at baseline, were more frequently underdosed with DOAC and discontinued the DOAC less frequently than men. Conclusion: We described the dose adequacy of patients receiving DOAC, finding a high frequency of underdosing, and significantly higher in women in comparison with men. Adherence was generally high, only with higher levels in women for rivaroxaban. Persistence during the first year of treatment was also high in general, being significantly more persistent women than men in the case of dabigatran and edoxaban. Dose inadequacy, lack of adherence and of persistence can result in less effective and safe treatments. It is necessary to conduct studies analysing sex and gender differences in health and disease

The use and adherence of oral anticoagulants in Primary Health Care in Catalunya, Spain: A real-world data cohort study

Objective: We aimed to describe sociodemographic, comorbidities, co-medication and risk of thromboembolic events and bleeding in patients with NVAF initiating oral anticoagulants (OAC) for stroke prevention, and to estimate adherence and persistence to OAC. Setting: Primary Health Care (PHC) in the Catalan Health Institute (ICS), Catalunya, Spain. Participants: All NVAF adult patients initiating OAC for stroke prevention in August 2013-December 2015. Methods: Population-based cohort study. Persistence was measured in patients initiating OAC in August 2013-December 2014. Data source: SIDIAP, which captures electronic health records from PHC in the (ICS), covering approximately 5.8 million people. Results: 51,690 NVAF patients initiated OAC; 47,197 (91.3%) were naive to OAC and 32,404 (62.7%) initiated acenocoumarol. Mean age was 72.8 years (SD 12.3) and 49.4% were women. Platelet-aggregation inhibitors were taken by 9105 (17.6%) of the patients. Persistence and adherence were estimated up to the end of follow-up. For 22,075 patients, persistence was higher among the non-naive patients [n = 258 (61.7%)] than among the naive [n = 11,502 (53.1%)]. Adherence was estimated for patients initiating DOAC and it was similar in naive and non-naive patients. Among the naive to DOAC treatment, those starting rivaroxaban showed a highest proportion [(n = 360 (80.1%)] of good adherence at implementation (MPR > 80%) while patients starting dabigatran were less adherent [n=203 (47.8%)]. Conclusions: Acenocoumarol was the most frequently prescribed OAC as first therapy in NVAF patients. Non-naive to DOAC showed better persistence than naive. Rivaroxaban showed higher proportion of adherent patients during the implementation phase than apixaban and dabigatran the lowest. (C) 2020 The Authors. Published by Elsevier Espana, S.L.U

Sex and gender differences in the use of oral anticoagulants for non-valvular atrial fibrillation: a population-based cohort study in primary health care in Catalonia

Oral anticoagulants; Atrial fibrillation; Gender differencesAnticoagulants orals; Fibril·lació auricular; Diferències de gènereAnticoagulantes orales; Fibrilación auricular; Diferencias de géneroObjectives: To describe the sex and gender differences in the treatment initiation and in the socio-demographic and clinical characteristics of all patients initiating an oral anticoagulant (OAC), and the sex and gender differences in prescribed doses and adherence and persistence to the treatment of those receiving direct oral anticoagulants (DOAC). Material and methods: Cohort study including patients with non-valvular atrial fibrillation (NVAF) who initiated OAC in 2011–2020. Data proceed from SIDIAP, Information System for Research in Primary Care, in Catalonia, Spain. Results: 123,250 people initiated OAC, 46.9% women and 53.1% men. Women were older and the clinical characteristics differed between genders. Women had higher risk of stroke than men at baseline, were more frequently underdosed with DOAC and discontinued the DOAC less frequently than men. Conclusion: We described the dose adequacy of patients receiving DOAC, finding a high frequency of underdosing, and significantly higher in women in comparison with men. Adherence was generally high, only with higher levels in women for rivaroxaban. Persistence during the first year of treatment was also high in general, being significantly more persistent women than men in the case of dabigatran and edoxaban. Dose inadequacy, lack of adherence and of persistence can result in less effective and safe treatments. It is necessary to conduct studies analysing sex and gender differences in health and disease

The use and adherence of oral anticoagulants in Primary Healthcare in Catalunya: a real-world data cohort study

Background The use of direct oral anticoagulants (DOAC) for stroke prevention in non-valvular atrial fibrillation (NVAF) has not been previously assessed in our setting. We aimed to describe sociodemographic, comorbidities, co-medication and risk of thromboembolic events and bleeding in patients with NVAF initiating oral anticoagulants (OAC) for stroke prevention, and to estimate adherence and persistence to OAC. Methods Population-based cohort study including all NVAF adult patients initiating OAC for stroke prevention in August 2013-December 2015. Persistence was measured in patients initiating OAC in August 2013-December 2014. Data source is SIDIAP, which captures electronic health records from Primary Health Care in the Catalan Health Institute, covering approximately 5.8 million people. Results 51,690 NVAF patients initiated OAC; 47,197 (91.3%) were naive to OAC and 32,404 initiated acenocoumarol (62.7%). Mean age was 72.8 years (SD 12.3) and 49.4% were women. Platelet-aggregation inhibitors were taken by 9,105 (17.6%) of the patients. For 22,075 patients, persistence was higher among the non-naive patients [n=258 (61.7%)] than among the naive [n=11,502 (53.1%)]. Adherence was estimated for patients initiating DOAC and was similar in naive and non-naive patients. Among the naive to DOAC treatment, those starting rivaroxaban showed a highest proportion [(n=360 (80.1%)] of good adherence at implementation (MPR>80%) while patients starting dabigatran were less adherent [n= 203 47.8%)]. Conclusions Acenocoumarol was the most frequently prescribed OAC as first therapy in NVAF patients. Non-naive to DOAC showed better persistence than naive. Rivaroxaban showed higher proportion of adherent patients during the implementation phase than apixaban and dabigatran the lowest.Preprin

The use and adherence of oral anticoagulants in Primary Health Care in Catalunya, Spain: a real-world data cohort study

© 2020. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/Objective: We aimed to describe sociodemographic, comorbidities, co-medication and risk of thromboembolic events and bleeding in patients with NVAF initiating oral anticoagulants (OAC) for stroke prevention, and to estimate adherence and persistence to OAC. Setting: Primary Health Care (PHC) in the Catalan Health Institute (ICS), Catalunya, Spain. Participants: All NVAF adult patients initiating OAC for stroke prevention in August 2013-December 2015. Methods: Population-based cohort study. Persistence was measured in patients initiating OAC in August 2013-December 2014. Data source: SIDIAP, which captures electronic health records from PHC in the (ICS), covering approximately 5.8 million people. Results: 51,690 NVAF patients initiated OAC; 47,197 (91.3%) were naive to OAC and 32,404 (62.7%) initiated acenocoumarol. Mean age was 72.8 years (SD 12.3) and 49.4% were women. Platelet-aggregation inhibitors were taken by 9,105 (17.6%) of the patients. Persistence and adherence were estimated up to the end of follow-up. For 22,075 patients, persistence was higher among the non-naive patients [n=258 (61.7%)] than among the naive [n=11,502 (53.1%)]. Adherence was estimated for patients initiating DOAC and it was similar in naive and non-naive patients. Among the naive to DOAC treatment, those starting rivaroxaban showed a highest proportion [(n=360 (80.1%)] of good adherence at implementation (MPR>80%) while patients starting dabigatran were less adherent [n= 203 [47.8%)]. Conclusions: Acenocoumarol was the most frequently prescribed OAC as first therapy in NVAF patients. Non-naive to DOAC showed better persistence than naive. Rivaroxaban showed higher proportion of adherent patients during the implementation phase than apixaban and dabigatran the lowest.Peer ReviewedPostprint (author's final draft

Poden els registres d'atenció primària ajudar a detectar el risc de suïcidi? : Un estudi de cas a Barcelona

El suïcidi és un greu problema de salut pública que s'ha vist incrementat en les últimes dècades, la qual cosa ha portat a la creació de diferents programes d'intervenció que tenen com a finalitat identificar i ajudar la persona afectada. En aquest article, un grup d'investigadors de l'àrea de Medicina presenta el resum d'un estudi en el qual intenten trobar a partir de registres electrònics del sistema sanitari, quins factors poden ajudar a identificar pacients amb alt risc de suïcidi. Una de les primeres conclusions és que molts d'ells queden recollits de manera rutinària en aquests registres, la qual cosa suposa un bon punt de partida per elaborar estratègies de prevenció.El suicidio es un grave problema de salud pública que se ha visto incrementado en las últimas décadas, lo que ha llevado a la creación de diferentes programas de intervención que tienen como finalidad identificar y ayudar a la persona afectada. En este artículo, un grupo de investigadores del área de Medicina presenta el resumen de un estudio que han llevado cabo para intentar encontrar a partir de registros electrónicos del sistema sanitario, qué factores pueden ayudar a identificar pacientes con alto riesgo de suicidio. Una de Llas primeras conclusiones es que muchos de ellos quedan recogidos de manera rutinaria en estos registros, lo que supone un buen punto de partida para elaborar estrategias de prevención.Suicide is a serious public health problem that has increased in recent decades, and this has led to the creation of different intervention programs that aim to identify and help the affected person. In this article, a group of medical researchers presents the summary of a study they conducted, using electronic records of the health system, to find the factors which could help to identify patients with a high risk of suicide. One of the first conclusions is that many of them are routinely collected in these registries, which is a good starting point for developing prevention strategies

Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study

More than 20 years have passed since the identification of SLC3A1 and SLC7A9 as causative genes for cystinuria. However, cystinuria patients exhibit significant variability in the age of lithiasis onset, recurrence, and response to treatment, suggesting the presence of modulatory factors influencing cystinuria severity. In 2016, a second renal cystine transporter, AGT1, encoded by the SLC7A13 gene, was discovered. Although it was discarded as a causative gene for cystinuria, its possible effect as a modulatory gene remains unexplored. Thus, we analyzed its function in mouse models of cystinuria, screened the SLC7A13 gene in 34 patients with different lithiasic phenotypes, and functionally characterized the identified variants. Mice results showed that AGT1/rBAT may have a protective role against cystine lithiasis. In addition, among the four missense variants detected in patients, two exhibited a 25% impairment in AGT1/rBAT transport. However, no correlation between SLC7A13 genotypes and lithiasis phenotypes was observed in patients, probably because these variants were found in heterozygous states. In conclusion, our results, consistent with a previous study, suggest that AGT1/rBAT does not have a relevant effect on cystinuria patients, although an impact in patients carrying homozygous pathogenic variants cannot be discarded

Adherence measures based on clustering of medication intake patterns

L adherència al tractament és una mesura àmpliament utilitzada en farmacoepidemiologia, una estimacióprecisad aquestaésunanecessitatessencialperalaseguretatdelpacient,aixícomper a l estalvi de costos d assistència sanitària. Diferents enfocaments ja han abordat aquest problema, prenent certes limitacions, com ser només vàlids per a medicaments específics o resumir el compliment del pacient en un únic valor. La present memòria presenta una nova metodologia per a estimar la probabilitat de presa de la medicació a partir de dades de dispensació electrònica. A més, es duu a terme una anàlisi exploratòria per mitjà de tècniques de clustering, a fi d observar visualment perfils d ús de medicació. Finalment, s aborda una anàlisi inferencial per avaluar si el risc de patir un accident cerebrovascular pot ser augmentat segons els diferents perfils d adherència obtinguts

Extensió de l'algorisme Minimum Distance Probability (MDP) i la seva aplicació a l'obtenció de biomarcadors

En els últims anys han sorgit noves tecnologies d’alt rendiment que han permès la generació de grans quantitats de dades biològiques.Fet que ha motivat a la interconnexió de la bioinformàtica amb diferentes disciplines.La possible anàlisi d’aquestes dades ha conduït a nous grans reptes en la biologia molecular i les ciències de la salut en general. En aquest context, aquest treball proposa un nou algorisme d’aprenentatge automàtic per a la classificació multinivell, efectuant una aplicació del mètode en una base de dades genòmica per a l’obtenció de biomarcadors.Finalment es proposa una aplicació web interactivaperpermetrel’accessibilitatdelmètode