Knowledge of blood pressure self-control principles in hospitalized patients with hypertension

Wstęp. Nadciśnienie tętnicze (HTN) stanowi główną przyczynę zgonów na świecie. Podstawą jego kontroli są domowe pomiary ciśnienia tętniczego. Ważną rolę w rozpoznawaniu HTN oraz leczeniu go odgrywają gabinetowe pomiary ciśnienia tętniczego oraz całodobowe monitorowanie ciśnienia. Głównym celem pracy jest ocena znajomości zasad pomiaru ciśnienia tętniczego, a także wiedzy na temat choroby u hospitalizowanych chorych z HTN. Materiał i metody. Badaniem ankietowym objęto grupę 126 pacjentów z rozpoznanym i leczonym HTN hospitalizowanych w I Klinice Kardiologii i Elektroterapii Świętokrzyskiego Centrum Kardiologii w Kielcach. Narzędziem badawczym była ankieta złożona z 23 pytań zamkniętych oraz 3 pytań otwartych. Oceniano dane demograficzne, czas trwania HTN, styl życia oraz obecność schorzeń współistniejących. Część pytań dotyczyła znajomości zasad samokontroli ciśnienia tętniczego oraz sposobu wykonywania pomiarów ciśnienia. Wyniki. Badana grupa 126 chorych z HTN obejmowała 58 kobiet (46%) oraz 68 mężczyzn (54%). Jedynie u 26 osób (20,6%) w całej badanej grupie stwierdzono prawidłową masę ciała. Średni czas trwania HTN wynosił 11 lat. W badanej grupie 118 chorych (93,7%) wykonywało domowe pomiary ciśnienia tętniczego. Spośród respondentów 43 osoby (34,1%) posługiwały się ciśnieniomierzem nadgarstkowym. Wśród badanych chorych 107 osób (85%) znało prawidłowe wartości ciśnienia tętniczego, z kolei 19 chorych (15%) nie wiedziało, jakie to wartości. Oceniono styl życia hospitalizowanych chorych z HTN. Zmianę diety oraz eliminację niekorzystnych nawyków żywieniowych od czasu rozpoznania HTN deklarowało 48 osób (38,1%), pozostałe 78 (61,9%) nie dokonało zmian w swoich nawykach żywieniowych w związku z występowaniem HTN. Większość chorych z badanej grupy, tj. 95 osób (75,3%), miało świadomość konsekwencji, które wynikają z nieleczenia lub niewłaściwego leczenia HTN. Pozostali ankietowani, tj. 31 osób (24,6%), nie mieli wiedzy na ten temat. Oceniając swój poziom wiedzy, jedynie 10 osób (7,9%) określiło go jako dobry. Wnioski. Wiedza dotycząca samokontroli HTN u chorych leczonych hipotensyjnie jest niewystarczająca. Konieczna jest systematyczna edukacja chorych, dotycząca głównie mieszkańców wsi oraz osób w wieku emerytalnym.Introduction. Hypertension (HTN) is the main cause of mortality worldwide. Control of HTN is based on home blood pressure measurements. An important role in the diagnosis of HTN plays an ambulatory blood pressure measurement. The main aim of the study was to assess the knowledge of blood pressure measurements, as well as the assessment of knowledge about the disease in hospitalized patients with hypertension. Materials and methods. The study involved a group of 126 patients with diagnosed and treated HTN hospitalized in the First Clinical Department of Cardiology in Świętokrzyskie Cardiology Centre in Kielce. Questionnaire consisted of 23 closed questions and 3 open questions was a study tool. It assessed demographic data, duration of HTN, lifestyle and the presence of comorbidities. Some of the questions concerned the knowledge of the principles of self-control of blood pressure and how to perform blood pressure measurements. Results. Studied group of 126 patients with hypertension included 58 women (46%) and 68 men (54%). Only 26 patients (20.6%) in the whole group had normal body weight. The average duration of HTN was 11 years. One hundred and eighteen patients (93.7%) measured their blood pressure at home. Forty-three respondents (34.1%), used wrist sphygmomanometer. Among studied patients, 107 (85%) knew the correct blood pressure. Nineteen (15%) patients did not know the correct blood pressure values. Lifestyle of hospitalized patients with hypertension was also assessed. Healthy diet and eliminating risk factors since the diagnosis HTN were declared by 48 patients (38.1%), the remaining 78 patients (61.9%) did not make changes in their eating habits despite the occurrence of HTN. Most patients in the study group (95 patients, 75.3%) were aware of the consequences of untreated or inadequately treated HTN. The remaining 31 respondents (24.6%) had no knowledge of the subject. Assessing their level of knowledge, only 10 (7.9%) respondents defined it as good. Conclusions. Knowledge of self-control of HTN in patients treated with antihypertensive drugs is insufficient. Systematic education is still necessary, mainly for country dwellers in old age

Electrical polarization switching in bulk single crystal GaFeO3_{3}

The electrical polarization switching on stoichiometric GaFeO$_{3}$ single crystal was measured, and a new model of atomic displacements responsible for the polarization reverse was proposed. The widely adapted mechanism of polarization switching in GaFeO$_{3}$ can be applied to stoichiometric, perfectly ordered crystals. However, the grown single crystals, as well as thin films of Ga-Fe-O, show pronounced atomic disorder. By piezoresponse force microscopy, the electrical polarization switching on a crystal surface perpendicular to the electrical polarization direction was demonstrated. Atomic disorder in the crystal was measured by X-ray diffraction and M\"ossbauer spectroscopy. These measurements were supported by ab initio calculations. By analysis of atomic disorder and electronic structure calculations, the energies of defects of cations in foreign cationic sites were estimated. The energies of the polarization switch were estimated, confirming the proposed mechanism of polarization switching in GaFeO$_{3}$ single crystals

Multi-ancestry meta-analysis of tobacco use disorder prioritizes novel candidate risk genes and reveals associations with numerous health outcomes

Tobacco use disorder (TUD) is the most prevalent substance use disorder in the world. Genetic factors influence smoking behaviors, and although strides have been made using genome-wide association studies (GWAS) to identify risk variants, the majority of variants identified have been for nicotine consumption, rather than TUD. We leveraged five biobanks to perform a multi-ancestral meta-analysis of TUD (derived via electronic health records, EHR) in 898,680 individuals (739,895 European, 114,420 African American, 44,365 Latin American). We identified 88 independent risk loci; integration with functional genomic tools uncovered 461 potential risk genes, primarily expressed in the brain. TUD was genetically correlated with smoking and psychiatric traits from traditionally ascertained cohorts, externalizing behaviors in children, and hundreds of medical outcomes, including HIV infection, heart disease, and pain. This work furthers our biological understanding of TUD and establishes EHR as a source of phenotypic information for studying the genetics of TUD

Combining schizophrenia and depression polygenic risk scores improves the genetic prediction of lithium response in bipolar disorder patients

Lithium is the gold standard therapy for Bipolar Disorder (BD) but its effectiveness differs widely between individuals. The molecular mechanisms underlying treatment response heterogeneity are not well understood, and personalized treatment in BD remains elusive. Genetic analyses of the lithium treatment response phenotype may generate novel molecular insights into lithium's therapeutic mechanisms and lead to testable hypotheses to improve BD management and outcomes. We used fixed effect meta-analysis techniques to develop meta-analytic polygenic risk scores (MET-PRS) from combinations of highly correlated psychiatric traits, namely schizophrenia (SCZ), major depression (MD) and bipolar disorder (BD). We compared the effects of cross-disorder MET-PRS and single genetic trait PRS on lithium response. For the PRS analyses, we included clinical data on lithium treatment response and genetic information for n = 2283 BD cases from the International Consortium on Lithium Genetics (ConLi+Gen; www.ConLiGen.org). Higher SCZ and MD PRSs were associated with poorer lithium treatment response whereas BD-PRS had no association with treatment outcome. The combined MET2-PRS comprising of SCZ and MD variants (MET2-PRS) and a model using SCZ and MD-PRS sequentially improved response prediction, compared to single-disorder PRS or to a combined score using all three traits (MET3-PRS). Patients in the highest decile for MET2-PRS loading had 2.5 times higher odds of being classified as poor responders than patients with the lowest decile MET2-PRS scores. An exploratory functional pathway analysis of top MET2-PRS variants was conducted. Findings may inform the development of future testing strategies for personalized lithium prescribing in BD

Association between the ACCN1 Gene and Multiple Sclerosis in Central East Sardinia

Multiple genome screens have been performed to identify regions in linkage or association with Multiple Sclerosis (MS, OMIM 126200), but little overlap has been found among them. This may be, in part, due to a low statistical power to detect small genetic effects and to genetic heterogeneity within and among the studied populations. Motivated by these considerations, we studied a very special population, namely that of Nuoro, Sardinia, Italy. This is an isolated, old, and genetically homogeneous population with high prevalence of MS. Our study sample includes both nuclear families and unrelated cases and controls. A multi-stage study design was adopted. In the first stage, microsatellites were typed in the 17q11.2 region, previously independently found to be in linkage with MS. One significant association was found at microsatellite D17S798. Next, a bioinformatic screening of the region surrounding this marker highlighted an interesting candidate MS susceptibility gene: the Amiloride-sensitive Cation Channel Neuronal 1 (ACCN1) gene. In the second stage of the study, we resequenced the exons and the 3′ untranslated (UTR) region of ACCN1, and investigated the MS association of Single Nucleotide Polymorphisms (SNPs) identified in that region. For this purpose, we developed a method of analysis where complete, phase-solved, posterior-weighted haplotype assignments are imputed for each study individual from incomplete, multi-locus, genotyping data. The imputed assignments provide an input to a number of proposed procedures for testing association at a microsatellite level or of a sequence of SNPs. These include a Mantel-Haenszel type test based on expected frequencies of pseudocase/pseudocontrol haplotypes, as well as permutation based tests, including a combination of permutation and weighted logistic regression analysis. Application of these methods allowed us to find a significant association between MS and the SNP rs28936 located in the 3′ UTR segment of ACCN1 with p = 0.0004 (p = 0.002, after adjusting for multiple testing). This result is in tune with several recent experimental findings which suggest that ACCN1 may play an important role in the pathogenesis of MS

HLA-DRB1 and HLA-DQB1 genetic diversity modulates response to lithium in bipolar affective disorders

Bipolar afective disorder (BD) is a severe psychiatric illness, for which lithium (Li) is the gold standard for acute and maintenance therapies. The therapeutic response to Li in BD is heterogeneous and reliable biomarkers allowing patients stratifcation are still needed. A GWAS performed by the International Consortium on Lithium Genetics (ConLiGen) has recently identifed genetic markers associated with treatment responses to Li in the human leukocyte antigens (HLA) region. To better understand the molecular mechanisms underlying this association, we have genetically imputed the classical alleles of the HLA region in the European patients of the ConLiGen cohort. We found our best signal for amino-acid variants belonging to the HLA-DRB1*11:01 classical allele, associated with a better response to Li (p < 1 × ­10−3; FDR< 0.09 in the recessive model). Alanine or Leucine at position 74 of the HLA-DRB1 heavy chain was associated with a good response while Arginine or Glutamic acid with a poor response. As these variants have been implicated in common infammatory/autoimmune processes, our fndings strongly suggest that HLA-mediated low infammatory background may contribute to the efcient response to Li in BD patients, while an infammatory status overriding Li anti-infammatory properties would favor a weak response

Characterisation of age and polarity at onset in bipolar disorder

Background Studying phenotypic and genetic characteristics of age at onset (AAO) and polarity at onset (PAO) in bipolar disorder can provide new insights into disease pathology and facilitate the development of screening tools. Aims To examine the genetic architecture of AAO and PAO and their association with bipolar disorder disease characteristics. Method Genome-wide association studies (GWASs) and polygenic score (PGS) analyses of AAO (n = 12 977) and PAO (n = 6773) were conducted in patients with bipolar disorder from 34 cohorts and a replication sample (n = 2237). The association of onset with disease characteristics was investigated in two of these cohorts. Results Earlier AAO was associated with a higher probability of psychotic symptoms, suicidality, lower educational attainment, not living together and fewer episodes. Depressive onset correlated with suicidality and manic onset correlated with delusions and manic episodes. Systematic differences in AAO between cohorts and continents of origin were observed. This was also reflected in single-nucleotide variant-based heritability estimates, with higher heritabilities for stricter onset definitions. Increased PGS for autism spectrum disorder (β = −0.34 years, s.e. = 0.08), major depression (β = −0.34 years, s.e. = 0.08), schizophrenia (β = −0.39 years, s.e. = 0.08), and educational attainment (β = −0.31 years, s.e. = 0.08) were associated with an earlier AAO. The AAO GWAS identified one significant locus, but this finding did not replicate. Neither GWAS nor PGS analyses yielded significant associations with PAO. Conclusions AAO and PAO are associated with indicators of bipolar disorder severity. Individuals with an earlier onset show an increased polygenic liability for a broad spectrum of psychiatric traits. Systematic differences in AAO across cohorts, continents and phenotype definitions introduce significant heterogeneity, affecting analyses

Association of Attention-Deficit/Hyperactivity Disorder and Depression Polygenic Scores with Lithium Response: A Consortium for Lithium Genetics Study

Response to lithium varies widely between individuals with bipolar disorder (BD). Polygenic risk scores (PRSs) can uncover pharmacogenomics effects and may help predict drug response. Patients (N = 2,510) with BD were assessed for long-term lithium response in the Consortium on Lithium Genetics using the Retrospective Criteria of Long-Term Treatment Response in Research Subjects with Bipolar Disorder score. PRSs for attention-deficit/hyperactivity disorder (ADHD), major depressive disorder (MDD), and schizophrenia (SCZ) were computed using lassosum and in a model including all three PRSs and other covariates, and the PRS of ADHD (β = −0.14; 95% confidence interval [CI]: −0.24 to −0.03; p value = 0.010) and MDD (β = −0.16; 95% CI: −0.27 to −0.04; p value = 0.005) predicted worse quantitative lithium response. A higher SCZ PRS was associated with higher rates of medication nonadherence (OR = 1.61; 95% CI: 1.34–1.93; p value = 2e−7). This study indicates that genetic risk for ADHD and depression may influence lithium treatment response. Interestingly, a higher SCZ PRS was associated with poor adherence, which can negatively impact treatment response. Incorporating genetic risk of ADHD, depression, and SCZ in combination with clinical risk may lead to better clinical care for patients with BD