How to screen for non-adherence to antihypertensive therapy

The quality of assessment of non-adherence to treatment in hypertensive is poor. Within this review, we discuss the different methods used to assess adherence to blood-pressure-lowering medications in hypertension patients. Subjective reports such as physicians’ perceptions are inaccurate, and questionnaires completed by patients tend to overreport adherence and show a low diagnostic specificity. Indirect objective methods such as pharmacy database records can be useful, but they are limited by the robustness of the recorded data. Electronic medication monitoring devices are accurate but usually track adherence to only a single medication and can be expensive. Overall, the fundamental issue with indirect objective measures is that they do not fully confirm ingestion of antihypertensive medications. Detection of antihypertensive medications in body fluids using liquid chromatography–tandem mass spectrometry is currently, in our view, the most robust and clinically useful method to assess non-adherence to blood-pressure-lowering treatment. It is particularly helpful in patients presenting with resistant, refractory or uncontrolled hypertension despite the optimal therapy. We recommend using this diagnostic strategy to detect non-adherence alongside a no-blame approach tailoring support to address the perceptions (e.g. beliefs about the illness and treatment) and practicalities (e.g. capability and resources) influencing motivation and ability to adhere

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. WASF1, also known as WAVE1, is part of the WAVE complex and acts as a mediator between Rac-GTPase and actin to induce actin polymerization. The three mutations connected by Matchmaker Exchange were c.1516C>T (p.Arg506Ter), which occurs in three unrelated individuals, c.1558C>T (p.Gln520Ter), and c.1482delinsGCCAGG (p.Ile494MetfsTer23). All three variants are predicted to partially or fully disrupt the C-terminal actin-binding WCA domain. Functional studies using fibroblast cells from two affected individuals with the c.1516C>T mutation showed a truncated WASF1 and a defect in actin remodeling. This study provides evidence that de novo heterozygous mutations in WASF1 cause a rare form of intellectual disability

Sex differences in the awareness, treatment, and control of hypertension in China: a systematic review with meta-analyses

Hypertension is the major cause of preventable disease burden in China. However, limited evidence is available on sex differences in the awareness, treatment, and control of hypertension. We assessed sex differences in the awareness, treatment, and control of hypertension in China. A systematic search of four English language and four Chinese-language databases was conducted to identify studies conducted from 2005 that reported sex-specific data on the awareness, treatment, and control of hypertension in China. Random-effects meta-analysis weighted by the inverse of the variances were used to obtain pooled sex-specific rates and women-minus-men differences, and their 95% confidence intervals (CI). Overall, 57 studies comprising 2,155,829 individuals (55% women) were included. Awareness (53% in women vs. 47% in men), treatment among all (44% vs. 38%), treatment among aware (65% vs. 60%), control among all (17% vs. 14%), and control among treated (27% vs. 27%) were low for both sexes, but more favourable in women than men. The corresponding women-minus men difference was 7% (95% CI: 6; 8%) for awareness, 6% (5; 8%) for treatment among all, 6% (2; 9%) for treatment among aware, 3% (2; 3%) for control among all, and 0% (−2; 1%) for control among treated. Awareness, treatment, and control of hypertension in China is low in both sexes, but greater in women than men. Sex-specific interventions may be needed to efficiently combat the burden of hypertension