Cardiovascular disease (CVD) is becoming the most important burden to health care systems in most part of the world, especially in Asia. Aiming at identifying high risk individuals and tailoring preventive treatment, many cardiovascular risk assessment tools have been established and most of them were developed in Western countries.However, these cardiovascular risk assessment tools cannot be used interchangeably without recalibration because of the different risk factor profiles (ie, greater absolute burden of hypertension and lower level of total-cholesterol in Asians and higher prevalence of metabolic disorders in South Asians) and different CVD profiles (higher ratio of stroke/coronary heart disease in Asians) between Western and Asian populations. Original risk models such as Prediction for ASCVD Risk in China (China-PAR) and Japan Arteriosclerosis Longitudinal Study (JALS) score have been developed and well validated for specific countries, while most of countries/regions in Asia are using established models. Due to higher incidence of stroke in Asians, risk factors like hypertension should weigh more in cardiovascular risk assessment comparing with Western populations, but their actual proportions should be based on CVD profiles in specific countries/regions. The authors encourage the development of new cardiovascular risk assessment tools for Asians, if possible. Still, modifying established models with native epidemiological data of risk factor as well as CVD is acceptable in regions where health care resources are insufficient.
Polycystic kidney disease (PKD) is a life-threatening inherited disease with a morbidity of 1:500–1,000 worldwide. Numerous progressively enlarging cysts are observed in the bilateral kidneys of patients with PKD, inducing structural damage and loss of kidney function. The present study analyzed one family with PKD. Whole exome sequencing of the proband was performed to detect the pathogenic gene present in the family. Candidate gene segments for lineal consanguinity in the family were amplified by nest polymerase chain reaction, followed by Sanger sequencing. One novel duplication variant (NM_001009944.2:c.9359dupA:p.Y3120_E3121delinsX) and one missense mutation (c.G9022A:p.V3008M) were detected in PKD1. Additionally, the pathogenic substitutions in PKD1 published from the dataset were analyzed. Following analysis and confirmation, the duplication variant NM_001009944.2:c.9359dupA:p.Y3120_E3121delinsX in PKD1, within the polycystin-1, lipoxygenase, α-toxin domain, was considered to be the pathogenic factor in the examined family with autosomal dominant PKD. Additionally, based on the analysis of 4,805 pathogenic substitutions in PKD1 within various regions, the presence of the missense mutation in the N-terminal domain of polycystin-1 may present high pathogenicity in ADPKD.
Numerous studies have indicated that there might be great differences among different populations in Europe and Asia in terms of home morning and evening blood pressure (BP). Thus, the authors performed a systematic review to determine the quantitative differences of BP measured at clinic versus at home in the morning and in the evening in Europe and Asia. PubMed, Embase, and Scopus databases were searched up to October 2021. Studies that compared clinic BP with home morning and (or) home evening BP in European and Asian populations were included. A random effect model was applied to pool the differences between clinic BP and home morning/evening BP. Thirty‐five studies, for a total of 49 432 patients, were included in this meta‐analysis. Mean clinic systolic blood pressure (SBP) values were significantly higher than home morning SBP values by 3.79 mmHg (95% CI, 2.77–4.80). The differences were much larger in Europe [(6.53 mmHg (95% CI, 4.10–8.97)] than in Asia [(2.70 mmHg (95% CI, 1.74–3.66)], and the region was a significant predictor for the differences. Mean clinic SBP values were also significantly higher than home evening SBP values by 6.59 mmHg (95% CI, 4.98–8.21). The differences were much smaller in Europe [5.85 mmHg (95% CI, 3.24–8.45)] than in Asia [7.13 mmHg (95% CI, 4.92–9.35)], while age and clinic SBP might contribute to it. Our findings showed that the difference between clinic and home morning SBP was much larger in European than Asian populations, whereas the difference between clinic and home evening SBP was the opposite. The differing characteristics of the region, ethnic, age, and clinic BP might explain the diversities.
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