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Heart Lung ; 50(3): 388-396, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33621837


BACKGROUND: Ventricular assist device (VAD) implantation has become an established treatment strategy for the increasing number of patients with advanced heart failure. Adequate patient self-management becomes essential to prevent adverse events, which could diminish expected outcomes and survival for patients on VAD support. OBJECTIVES: The aim of this study was to provide an overview of the current state of evidence concerning self-management in VAD patients through a systematized search and mapping of the literature. METHODS: Following the scoping review process, a comprehensive literature search (PubMed, PsychInfo), tabular synthesis of included articles, and data analysis of synthesized findings were performed. RESULTS: Overall, twenty articles were included. Results describe the complexity of regular self-management tasks and give direction for specific self-management training. CONCLUSIONS: This article represents the first comprehensive overview of available evidence suggesting the need for development and implementation of evidence-based, patient self-management curricula with therapeutic regimen for VAD patients.

Insuficiência Cardíaca , Coração Auxiliar , Autogestão , Insuficiência Cardíaca/terapia , Humanos , Estudos Retrospectivos , Resultado do Tratamento
Mol Psychiatry ; 2019 Nov 11.
Artigo em Inglês | MEDLINE | ID: mdl-31712720


Panic disorder (PD) has a lifetime prevalence of 2-4% and heritability estimates of 40%. The contributory genetic variants remain largely unknown, with few and inconsistent loci having been reported. The present report describes the largest genome-wide association study (GWAS) of PD to date comprising genome-wide genotype data of 2248 clinically well-characterized PD patients and 7992 ethnically matched controls. The samples originated from four European countries (Denmark, Estonia, Germany, and Sweden). Standard GWAS quality control procedures were conducted on each individual dataset, and imputation was performed using the 1000 Genomes Project reference panel. A meta-analysis was then performed using the Ricopili pipeline. No genome-wide significant locus was identified. Leave-one-out analyses generated highly significant polygenic risk scores (PRS) (explained variance of up to 2.6%). Linkage disequilibrium (LD) score regression analysis of the GWAS data showed that the estimated heritability for PD was 28.0-34.2%. After correction for multiple testing, a significant genetic correlation was found between PD and major depressive disorder, depressive symptoms, and neuroticism. A total of 255 single-nucleotide polymorphisms (SNPs) with p < 1 × 10-4 were followed up in an independent sample of 2408 PD patients and 228,470 controls from Denmark, Iceland and the Netherlands. In the combined analysis, SNP rs144783209 showed the strongest association with PD (pcomb = 3.10 × 10-7). Sign tests revealed a significant enrichment of SNPs with a discovery p-value of <0.0001 in the combined follow up cohort (p = 0.048). The present integrative analysis represents a major step towards the elucidation of the genetic susceptibility to PD.

Psychiatr Genet ; 27(3): 96-102, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28272115


OBJECTIVES: Social anxiety disorder (SAD) is a common and heritable psychiatric disorder. However, genetic studies in SAD are rare and only a few candidate genes have been implicated so far. In the present study, we investigated whether single-nucleotide polymorphisms (SNPs) associated with other psychiatric disorders also contribute toward the development of SAD and followed up variants associated with SAD on the phenotypic level. PATIENTS AND METHODS: We genotyped a total of 24 SNPs in a German sample of 321 SAD patients and 804 controls. We carried out single-marker analyses as well as quantitative association analyses of SAD severity and harm avoidance. RESULTS: None of the variants investigated showed an association with SAD in our case-control sample after Bonferroni correction. Two SNPs reached nominal significance (rs818702, P=0.032; rs140701, P=0.048). Of these, only rs140701 showed an association in the same allelic direction as reported previously. This SNP is located within the serotonin transporter gene SLC6A4, which is the primary target of selective-serotonin reuptake inhibitors used for the treatment of depressive and anxiety disorders. The quantitative association analysis of all cases with available data on symptom severity showed four SNPs with a nominal significant association. Among these SNPs, rs10994359 showed the strongest association (P=0.001) and was located near the ANK3 gene. In addition, rs10994359 was nominally associated with harm avoidance scores (P=0.001). CONCLUSION: Our results provide further evidence for an involvement of the serotonin transporter gene SLC6A4 in the etiology of anxiety-related traits. Furthermore, our study implicates that genetic variation at the genome-wide associated bipolar disorder locus ANK3 might influence anxiety-related personality traits.

Transtornos de Ansiedade/genética , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Adulto , Ansiedade/genética , Ansiedade/metabolismo , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença/genética , Variação Genética , Genótipo , Alemanha , Humanos , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , Proteínas da Membrana Plasmática de Transporte de Serotonina/metabolismo