Health literacy and medication adherence in psoriasis patients: a survey in Iran

Background: Medication adherence among Psoriasis patients is often inadequate identified as a significant problem in Psoriasis symptoms management. Poor medication adherence could necessitate stronger and more expensive medications, which could place a significant burden on the healthcare system. Moreover, the importance of health literacy assessment as a factor influencing adherence in psoriasis patients cannot be overstated. This study aimed to evaluate the medication adherence level of Iranian Psoriasis patients and its relationship with the patients' health literacy level and demographic conditions. Methods: This is a cross-sectional study among Iranian psoriasis patients conducted through a web-based questionnaire survey between 26 July 2020 and 5 January 2021 and a total of 575 samples were collected. The questionnaire consisted of 3 sections: First, demographic information and disease characteristics were evaluated. Second, the medication adherence was evaluated by using valid Morisky Medication Adherence Scale-8 (MMAS-8), and, finally, the health literacy was evaluated by using Health Literacy for Iranian Adults (HELIA). Data were analyzed using SPSS software, version 22 with descriptive statistics; Chi-square and Kruskal-Wallis tests. Stepwise multiple linear regression was also used to evaluate the impact of independent variables related on medication adherence score. Results: Results showed that the mean health literacy score in the study population was 74.3 ± 14.23, and the mean medication adherence score was 4.1 ± 2.18. Out of the total participants, 28.8% had high health literacy, 67.1% had adequate health literacy, and 4% had inadequate health literacy. The majority of the participants (70.7%) reported low adherence, while 24.1% reported moderate and 5.2% reported high adherence. The results of the Chi-square test showed a significant relationship between age, comorbidities, type of treatment, satisfaction with treatment, the experience of adverse effects, and health literacy with medication adherence (P < 0.05 for all). The final constructed model of stepwise multiple linear regression was highly statistically significant. The highest beta coefficient in the final model belonged to the total health literacy score. Conclusions: Based on the results, medication adherence among Iranian psoriasis patients is low. Health literacy correlates most strongly with medication adherence and is the best variable to determine it. Improving the access to the internet and the ICTs to enhance the patients` health literacy along with developing the patient education approaches and techniques should be considered by health policymakers

Primate-specific endogenous retrovirus-driven transcription defines naive-like stem cells

Naive embryonic stem cells hold great promise for research and therapeutics as they have broad and robust developmental potential. While such cells are readily derived from mouse blastocysts it has not been possible to isolate human equivalents easily, although human naive-like cells have been artificially generated (rather than extracted) by coercion of human primed embryonic stem cells by modifying culture conditions or through transgenic modification. Here we show that a sub-population within cultures of human embryonic stem cells (hESCs) and induced pluripotent stem cells (hiPSCs) manifests key properties of naive state cells. These naive-like cells can be genetically tagged, and are associated with elevated transcription of HERVH, a primate-specific endogenous retrovirus. HERVH elements provide functional binding sites for a combination of naive pluripotency transcription factors, including LBP9, recently recognized as relevant to naivety in mice. LBP9-HERVH drives hESC-specific alternative and chimaeric transcripts, including pluripotency-modulating long non-coding RNAs. Disruption of LBP9, HERVH and HERVH-derived transcripts compromises self-renewal. These observations define HERVH expression as a hallmark of naive-like hESCs, and establish novel primate-specific transcriptional circuitry regulating pluripotency

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

BACKGROUND: Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson's disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated participants. To discover rare PD susceptibility variants, we performed WES in 1148 unrelated cases and 503 control participants. Candidate genes were subsequently validated for functions relevant to PD based on parallel RNA-interference (RNAi) screens in human cell culture and Drosophila and C. elegans models. RESULTS: Assuming autosomal recessive inheritance, we identify 27 genes that have homozygous or compound heterozygous loss-of-function variants in PD cases. Definitive replication and confirmation of these findings were hindered by potential heterogeneity and by the rarity of the implicated alleles. We therefore looked for potential genetic interactions with established PD mechanisms. Following RNAi-mediated knockdown, 15 of the genes modulated mitochondrial dynamics in human neuronal cultures and four candidates enhanced α-synuclein-induced neurodegeneration in Drosophila. Based on complementary analyses in independent human datasets, five functionally validated genes-GPATCH2L, UHRF1BP1L, PTPRH, ARSB, and VPS13C-also showed evidence consistent with genetic replication. CONCLUSIONS: By integrating human genetic and functional evidence, we identify several PD susceptibility gene candidates for further investigation. Our approach highlights a powerful experimental strategy with broad applicability for future studies of disorders with complex genetic etiologies

Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

To discover quantitative trait loci for intraocular pressure, a major risk factor for glaucoma and the only modifiable one, we performed a genome-wide association study on a discovery cohort of 2175 individuals from Sydney, Australia. We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1. The findings in this region were confirmed through two UK replication cohorts totalling 4866 individuals (rs59072263, Pcombined = 1.10 × 10−8). A copy of the G allele at this SNP is associated with an increase in mean IOP of 0.45 mmHg (95%CI = 0.30–0.61 mmHg). These results lend support to the implication of vesicle trafficking and glucocorticoid inducibility pathways in the determination of intraocular pressure and in the pathogenesis of primary open-angle glaucoma

A polygenic resilience score moderates the genetic risk for schizophrenia.

Based on the discovery by the Resilience Project (Chen R. et al. Nat Biotechnol 34:531-538, 2016) of rare variants that confer resistance to Mendelian disease, and protective alleles for some complex diseases, we posited the existence of genetic variants that promote resilience to highly heritable polygenic disorders1,0 such as schizophrenia. Resilience has been traditionally viewed as a psychological construct, although our use of the term resilience refers to a different construct that directly relates to the Resilience Project, namely: heritable variation that promotes resistance to disease by reducing the penetrance of risk loci, wherein resilience and risk loci operate orthogonal to one another. In this study, we established a procedure to identify unaffected individuals with relatively high polygenic risk for schizophrenia, and contrasted them with risk-matched schizophrenia cases to generate the first known "polygenic resilience score" that represents the additive contributions to SZ resistance by variants that are distinct from risk loci. The resilience score was derived from data compiled by the Psychiatric Genomics Consortium, and replicated in three independent samples. This work establishes a generalizable framework for finding resilience variants for any complex, heritable disorder