Structural and functional abnormalities are prevalent in HIV-infected African children and therefore justify inclusion of routine echocardiography in their standard care.
A BS TRACT: Background: Although the leucine-rich repeat kinase 2 p.G2019S mutation has been demonstrated to be a strong risk factor for PD, factors that contribute to penetrance among carriers, other than aging, have not been well identified. Objectives: To evaluate whether a cumulative genetic risk identified in the recent genome-wide study is associated with penetrance of PD among p.G2019S mutation carriers. Methods: We included p.G2019S heterozygote carriers with European ancestry in three genetic cohorts in which the mutation carriers with and without PD were selectively recruited. We also included the carriers from two data sets: one from a case-control setting without selection of mutation carriers and the other from a population sampling. Associations between polygenic risk score constructed from 89 variants reported recently and PD were tested and meta-analyzed. We also explored the interaction of age and PRS.Results: After excluding eight homozygotes, 833 p. G2019S heterozygote carriers (439 PD and 394 unaffected) were analyzed. Polygenic risk score was associated with a higher penetrance of PD (odds ratio: 1.34; 95% confidence interval: [1.09, 1.64] per +1 standard deviation; P = 0.005). In addition, associations with polygenic risk score and penetrance were stronger in the younger participants (main effect: odds ratio 1.28 [1.04, 1.58] per +1 standard deviation; P = 0.022; interaction effect: odds ratio 0.78 [0.64, 0.94] per +1 standard deviation and + 10 years of age; P = 0.008). Conclusions: Our results suggest that there is a genetic contribution for penetrance of PD among p.G2019S carriers. These results have important etiological consequences and potential impact on the selection of subjects for clinical trials.
Background
Hypertension is the major risk factor for cardiovascular diseases and prevalence rates are critical to understanding the burden and envisaging health service requirements and resource allocation. We aimed to provide an update of the current prevalence of hypertension and blood pressure profiles of adults in urban Nigeria.
Methods
Cross sectional population-based survey in Lagos, Nigeria. Participants were selected using stratified multistage sampling. Relevant sections of the World Health Organization STEPwise approach to chronic disease risk factor surveillance were utilized for data collection. Blood pressures were categorized based on both the current American College of Cardiology/American Heart Association (ACC/AHA) 2017 guidelines and the pre-existing Joint National Committee on Hypertension 7 (JNC7) (2003) categories.
Results
There were 5365 participants (51.8% female), age range of 16–92 years, and mean age ± SD 37.6 ± 13.1. The mean ± SD systolic and diastolic blood pressures were 126.8 ± 18.6 and 80.6 ± 13.2 respectively. There was significant correlation between both systolic and diastolic blood pressures and age (Pearson correlation 0.372 and 0.357 respectively and
p
= 0.000 in both instances). The prevalence of hypertension was 55.0% (3003) and 27.5% (1473) based on the ACC/AHA 2017 guideline and the JNC7 2003 guidelines respectively. Body mass index was positively correlated with systolic and diastolic BP (p = 0.000).
Conclusions
Over half of the adult population in this major Nigerian city are classified to have hypertension by the recent guideline. There is an urgent need to develop and implement strategies for primordial prevention of hypertension (and obesity) and to restructure our healthcare delivery systems to adequately cater for the current and emerging hypertensive population.
BackgroundParkinson disease (PD) is associated with a high prevalence of insomnia, affecting up to 88% of patients. Pharmacotherapy studies in the literature addressing insomnia in PD reveal disappointing and inconsistent results. Cognitive behavioral therapy (CBT) is a novel treatment option with durable effects shown in primary insomnia. However, the lack of accessibility and expense can be limiting. For these reasons, computerized CBT for insomnia (CCBT-I) has been developed. The CCBT-I program is a 6-week web-based course consisting of daily “lessons” providing learnable skills and appropriate recommendations to help patients improve their sleep habits and patterns.MethodsWe conducted a single-center, pilot, randomized controlled trial comparing CCBT-I versus standardized sleep hygiene instructions to treat insomnia in PD. Twenty-eight subjects with PD experiencing insomnia, with a score > 11 on the Insomnia Severity Index (ISI) were recruited. Based on a 6-point improvement in ISI in treatment group when compared to controls and an alpha = 0.05 and beta of 0.1 (power = 90%) a sample size of 11 patients (on active treatment) were required to detect this treatment effect using a dependent sample t-test.ResultsIn total, 8/14 (57%) subjects randomized to CCBT-I versus 13/14 (93%) subjects randomized to standard education completed the study. Among completers, the improvement in ISI scores was greater with CCBT-I as compared to standard education (−7.9 vs −3.5; p = 0.03). However, in an intention-to-treat analysis, where all enrolled subjects were included, the change in ISI between groups was not significant (−.4.5 vs −3.3; p = 0.48), likely due to the high dropout rate in the CCBT-I group (43%).ConclusionThis pilot study suggests that CCBT-I can be an effective treatment option for PD patients with insomnia when the course is thoroughly completed. High drop-out rate in our study shows that although effective, it may not be a generalizable option; however, larger studies are needed for further evaluation.
Background:This study aimed to determine the frequency of cognitive impairment and depression in our Parkinson's Disease (PD) and their relationship with disease severity and disability.Patients and Methods:A total of 40 PD patients and 40 age-, sex-, and educationally matched controls were studied. The Unified Parkinson Disease Rating Scale (UPDRS) Motor and Activities of Daily Living (ADL) scores and the Hoehn and Yahr (HY) stage were documented. Depression was assessed using the Zung Self-Rating Depression Scale (ZSDS), while cognition was evaluated using a composite score of the mini-mental state examination (MMSE) score and category fluency score.Results:A total of 55% (22/40) of PD and 10% (4 of 40) of controls had depression (P<0.001). A total of 60% of PD (24/40) and 5% of controls (2/40) had cognitive impairment (P<0.001). Both NMS coexisted in 16 of 40 PD (40%) compared with none of the controls (P<0.001). UPDRS (motor and ADL) scores and HY stage were significantly worse with impaired ZSDS scores - P 0.001. UPDRS ADL was significantly impaired by the presence of cognitive impairment. Coexisting depression and cognitive impairment were associated with significant worsening of all scores of severity and disability.Conclusion:Cognitive impairment and depression accompany our PD and are related to disability and worsening disease severity.
To date the LRRK2 p.G2019S mutation remains the most common genetic cause of Parkinson disease (PD) worldwide. It accounts for up to 6% of familial and approximately 1.5% of sporadic cases. LRRK2 has a kinase enzymatic domain which provides an attractive potential target for drug therapies and LRRK2 kinase inhibitors are in development. Prevalence of the p.G2019S has a variable ethnic and geographic distribution, the highest was reported among Ashkenazi Jews (30% in patients with familial PD, 14% in sporadic PD, 2.0% in controls) and North African Berbers (37% in patients with familial PD, 41% in sporadic PD, and 1% in controls). Little is known about the frequency of the LRRK2 p.G2019S among populations in Sub Saharan Africa. Our group and others previously reported that the p.G2019S is absent in a small cohort from Nigerian PD patients and controls. Here we used Kompetitive Allele Specific PCR (KASP) assay to screen for the p.G2019S in a larger cohort of Black African PD patients (n =126) and healthy controls (n = 55) from Nigeria. Our analysis confirmed that all patients and controls are negative for the p.G2019S mutation. This report provides further evidence that the LRRK2 p.G2019S is not implicated in PD in black populations from Nigeria and support the notion that p.G2019S mutation originated after the early human dispersal from sub-Saharan Africa. Further studies using larger cohorts and advance sequencing technology are required to underpin the genetic causes of PD in this region.
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