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We report the case of a boy with a prolonged diagnostic workup for global developmental delay alongside feeding difficulties, failure to thrive, pulmonary stenosis and macrocephaly. Following a series of diagnostic tests over the first 25 months of life, whole-exome sequencing was performed which diagnosed cardiofaciocutaenous syndrome type 3.Global developmental delay is a common presentation to general paediatric and community paediatric clinics. This prompts the search for an aetiology to describe the child's constellation of symptoms which often consists of a chromosomal microarray, neuroimaging and investigations for an inborn error of metabolism. With developments in genetic testing such as the reducing cost of clinical exome sequencing or whole-exome sequencing, could these testing strategies offer a more comprehensive first line test?This case not only demonstrates the features of cardiofaciocutaneous syndrome type 3 but the added value of modern genetic technologies in the diagnosis of children with global developmental delay.
To evaluate the benefit of combining polygenic risk scores with the QCancer-10 (colorectal cancer) prediction model for non-genetic risk to identify people at highest risk of colorectal cancer.
Population based cohort study.
Data from the UK Biobank study, collected between March 2006 and July 2010.
434 587 individuals with complete data for genetics and QCancer-10 predictions were included in the QCancer-10 plus polygenic risk score modelling and validation cohorts.
Prediction of colorectal cancer diagnosis by genetic, non-genetic, and combined risk models. Using data from UK Biobank, six different polygenic risk scores for colorectal cancer were developed using LDpred2 polygenic risk score software, clumping, and thresholding approaches, and a model based on genome-wide significant polymorphisms. The top performing genome-wide polygenic risk score and the score containing genome-wide significant polymorphisms were combined with QCancer-10 and performance was compared with QCancer-10 alone. Case-cotion.
Integrating polygenic risk scores with QCancer-10 modestly improves risk prediction over use of QCancer-10 alone. Given that QCancer-10 data can be obtained relatively easily from health records, use of polygenic risk score in risk stratified population screening for colorectal cancer currently has no clear justification. The added benefit, cost effectiveness, and acceptability of polygenic risk scores should be carefully evaluated in a real life screening setting before implementation in the general population.Insufficient quantity and quality of sleep is a public health concern that can be addressed by interventions for improving sleep outcomes. Environmental factors such as poor air quality are a potential target for intervention, particularly in light of associations between air pollution and worse sleep. The aim of this pilot study was to investigate the effects of using an air purifier on sleep outcomes and mood in 30 healthy adults. There were two conditions (i) air purifier with a high-efficiency particulate air filter; (ii) air purifier with a placebo filter. Participants undertook both conditions, each over 2 weeks with a 2-week washout, following a counterbalanced, double-blind design. Daily sleep outcomes were measured with actigraphy watches and sleep diaries, whilst daily mood was assessed with the Positive and Negative Affect Schedule. The Insomnia Severity Index, the Pittsburgh Sleep Quality Index, and symptoms of anxiety and depression were measured pre- and post-. The purifier filter was associated with increased total sleep time for an average of 12 min per night, and increased total time in bed for an average of 19 min per night relative to the placebo. There were several sleep and mood outcomes for which no changes were observed, and time awake after sleep onset was higher for the purifier filter. Air quality was better during the high-efficiency particulate air filter condition. These findings offer positive indications that environmental interventions that improve air quality can have benefits for sleep outcomes in healthy populations who are not exhibiting clinical sleep disturbances.
This cross-sectional study aimed to investigate the associations between salivary testosterone concentrations and cognitive function in 70-year-old Japanese elderly people without dementia and stroke.
Participants were 197 Japanese community-dwelling people aged 69-71 years. Their salivary samples were collected, and their cognitive function was assessed using the Japanese version of the Montreal Cognitive Assessment (MoCA-J). Participants were also administered a 10-item recall and a 24-item recognition test. The data for 179 (106 men and 73 women) individuals were analyzed, excluding individuals with a past history of stroke and dementia. Multivariate logistic regression analyses were performed after adjusting for lifestyle factors and analyzing data separately for men and women.
MoCA-J scores showed that men with low testosterone concentrations had a significantly greater risk of low cognitive performance than those with high testosterone concentrations (adjusted odds ratio 4.72, 95% confidence interval 1.06-21.00), while no significant association was found in women. The 10-item recall test scores showed that higher testosterone concentrations were significantly associated with greater recall in the second trial in women (standardized beta=0.24, P=0.040), whereas no significant association was found in men. Salivary testosterone concentrations were positively associated with better cognitive performance in older men and women.
The associations between salivary testosterone concentrations and cognitive function were shown by different tasks for men and women. Geriatr Gerontol Int 2022; 22 1040-1046.
The associations between salivary testosterone concentrations and cognitive function were shown by different tasks for men and women. Geriatr Gerontol Int 2022; 22 1040-1046.
We describe a novel, practical, and inexpensive method to add video recording during tilt table testing (TTT) Open-Access-Video-TTT.
The Open-Access-Video-TTT set-up uses a personal computer (PC) to capture screen video data from a non-invasive-beat-to-beat (NIBTB) haemodynamic blood pressure (BP) device, combined with video recording of a patient, using Open Broadcaster Software (OBS®). The new Open-Access-Video-TTT set up was tested with both the Finometer (model Finapres Nova®, Medical Systems, the Netherlands) and the Task Force® Touch Cardio monitor (CNSystems, Austria). For this, the Finapres Nova® was enabled in 'remote' mode and Real Video Network Computing (RealVNC®) was installed on the PC/laptop. The Task Force® has a DisplayPort (DP) port, for which a DP/ high-definition multimedia interface (HDMI) cable and a video capture card is used to merge the signals to the PC/laptop. With this method the combined images are stored as a new video signal. TTT can be performed with any routine protocol.
Open Access-Video-TTT worked well for both the Finapres NOVA® and the Task Force Monitor ®. This novel method can be used easily by all physicians who wish to add video recording during TTT who do not have access to an electroencephalogram machine.
Open Access-Video-TTT worked well for both the Finapres NOVA® and the Task Force Monitor ®. This novel method can be used easily by all physicians who wish to add video recording during TTT who do not have access to an electroencephalogram machine.Nightmares are considerably prevalent in the general population and are known to be closely associated with a variety of mental disorders. However, not much is known about the immediate antecedents and consequences of nightmares. Therefore, we used intensive longitudinal assessments to investigate the night-to-night within-person associations between nightmares on the one hand and fear of sleep, somatic as well as cognitive pre-sleep arousal, and sleep quality on the other hand. Young women with regular nightmares (n = 16) maintained a sleep diary for around 30 days; upon awaking, the participants reported on nightmares and sleep quality during the past night as well as the pre-sleep levels of arousal and fear of sleep (which resulted in 461 observations). Participants also wore an actigraph, which provided objective sleep parameters. Multilevel modeling showed that higher levels of fear of sleep and lower subjective sleep quality were significantly associated with higher levels of nightmare distress. Furthermore, we found individual differences in the strength of these associations, which implies that factors proximate to nightmares may vary across individuals. Pre-sleep arousal, however, did not show expected within-person associations with nightmares or fear of sleep. These findings highlight the crucial role of fear of sleep in the etiology of nightmares and sleep disturbances, while pointing to the importance of pursuing individual, personalised models that explain heterogeneity in the process of triggering nightmares.
The Yumizen H2500 (YH2500) cell analyser was compared to the Pentra DX Nexus (both from HORIBA Medical) to evaluate the efficiency of the new YH2500 technology for the WBC-differential in samples from oncology patients with WBC-diff abnormalities.
The 220 samples with slide review criteria on the Nexus were systematically analysed on the YH2500. The WBC-diff was compared to flow cytometry (FCM). The 100 additional samples with Monocyte/Neutrophil separation flags were evaluated. The flagging performance and the accuracy of the WBC-diff were analysed.
The YH2500 generated fewer flags than the Nexus (47.73% vs 66.64%; p< .0001), except for Monocyte/Neutrophil flag (15.5% vs. 2.7%; p< 0.0001). Overall performances were higher on the YH2500 (Sensitivity, 100 vs. 89.6%; Specificity 81.0% vs. 50.9%; PPV, 74.3% vs. 62.9%; NPV, 100% vs. 69.5%; Efficiency, 87.7% vs. 69.5%). YH2500 showed a statistically significant better correlation with FCM for the 6-part differential than the Nexus. On 134 samples with Monocyte/Neutrophil separation flag, it was shown that, in samples with less than 10% monocytes on the YH2500, the results of monocyte and neutrophil counts were comparable to the manual count, and that these samples did not need a slide review if no other main criterion for review was present.
The YH2500 demonstrated better performance characteristics than the previous cell counter, the Nexus. Its implementation in our laboratory routine work significantly improved the practice workflow, decreased the number of manual cell counts and increased the pertinence of slide review and reporting of the microscopic count.
The YH2500 demonstrated better performance characteristics than the previous cell counter, the Nexus. Its implementation in our laboratory routine work significantly improved the practice workflow, decreased the number of manual cell counts and increased the pertinence of slide review and reporting of the microscopic count.This study aims to determine the association between social jetlag and parameters of metabolic syndrome and type 2 diabetes (T2D) in a systematic review and meta-analysis. A systematic literature search was conducted in PubMed/Embase/Scopus until May 2022. Included studies described an association between social jetlag and parameters of the metabolic syndrome and/or T2D, were available full text and written in English or Dutch. Combretastatin A4 in vitro Data extraction and quality assessment were performed on pre-piloted forms independently by two reviewers. Results were meta-analysed using random-effects analysis. A total of 6,290 titles/abstracts were screened, 176 papers were read full-text, 68 studies were included. Three studies were rated as low quality, 27 were moderate, and 38 were high quality. High quality studies showed that having social jetlag compared to no social jetlag was significantly associated with higher body mass index in 20 studies (0.49 kg/m2 , 95% confidence interval [CI] 0.21-0.77; I2 = 100%), higher waist circumference in seven studies (1.
Here's my website: https://www.selleckchem.com/products/combretastatin-a4.html
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