An article in BMCBioInformatics presents DGH-GO: an interactive and user-friendly application that allows biologists to dissect the genetic heterogeneity of complex diseases by stratifying the putative disease-causing genes into clusters.
] have emerged. However, PPI resources differ on criteria and objectives for data collection, analysis and manipulation. For example, STRING is using a numeric score to rank the protein–protein interactions whereas BioGRID is a binary score-based database. Therefore, the selection of the PPI resource could affect the final conclusion [Network approaches have also been applied on gene expression networks. Langfelder et al. developed an R package, called weighted correlation network analysis [].
Another strong aspect of DGH-GO is the freedom of choosing the methods for the analysis. Several methods have been routinely used for genetic data analysis and most of them require programming experience, thus limiting the role of domain experts in analyzing their generated data. Also, choosing a method from an extensive list of available methods can be a daunting task for people lacking bioinformatics or data analytical skills.
DGH-GO is an easy to use interactive application that allows users to apply multiple methods and compare their performance. For example, a user can perform different dimension reduction methods and perform different clustering methods either on semantic similarity scores or one of the dimensionally reduced data. DGH-GO is an open source application, which allows people with programming skills to modify it according to their need.
The proposed application was evaluated on two different datasets of complex diseases. First rare CNVs spanning putative ASD-causing genes were analyzed to explore the genetic heterogeneity of ASD. The DGH-GO analysis showed that putative ASD-causing gene groups into different clusters and each cluster displayed a different biological mechanism.
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Altered expression of anti-apoptotic protein Api5 affects breast tumorigenesis - BMC CancerBackground Apoptosis or programmed cell death plays a vital role in maintaining homeostasis and, therefore, is a tightly regulated process. Deregulation of apoptosis signalling can favour carcinogenesis. Apoptosis inhibitor 5 (Api5), an inhibitor of apoptosis, is upregulated in cancers. Interestingly, Api5 is shown to regulate both apoptosis and cell proliferation. To address the precise functional significance of Api5 in carcinogenesis here we investigate the role of Api5 in breast carcinogenesis. Methods Initially, we carried out in silico analyses using TCGA and GENT2 datasets to understand expression pattern of API5 in breast cancer patients followed by investigating the protein expression in Indian breast cancer patient samples. To investigate the functional importance of Api5 in breast carcinogenesis, we utilised MCF10A 3D breast acinar cultures and spheroid cultures of malignant breast cells with altered Api5 expression. Various phenotypic and molecular changes induced by altered Api5 expression were studied using these 3D culture models. Furthermore, in vivo tumorigenicity studies were used to confirm the importance of Api5 in breast carcinogenesis. Results In-silico analysis revealed elevated levels of Api5 transcript in breast cancer patients which correlated with poor prognosis. Overexpression of Api5 in non-tumorigenic breast acinar cultures resulted in increased proliferation and cells exhibited a partial EMT-like phenotype with higher migratory potential and disruption in cell polarity. Furthermore, during acini development, the influence of Api5 is mediated via the combined action of FGF2 activated PDK1-Akt/cMYC signalling and Ras-ERK pathways. Conversely, Api5 knock-down downregulated FGF2 signalling leading to reduced proliferation and diminished in vivo tumorigenic potential of the breast cancer cells. Conclusion Taken together, our study identifies Api5 as a central player involved in regulating multiple events during breast carcinogenesis includi
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The effect of intradialytic exercise on dialysis patient survival: a randomized controlled trial - BMC NephrologyBackground Patients with kidney failure have a high mortality rate. This study aimed to evaluate the effect of intradialytic exercise on survival in patients receiving hemodialysis (HD). Methods In this randomized controlled trial conducted in a HD center in Iran, adult patients receiving chronic HD were randomized to intradialytic exercise (60 min) in the second hour of thrice weekly dialysis for 6 months (intervention) or no intradialytic exercise (control). The primary outcome was survival rate at 12 months. Secondary outcomes were serum albumin, hemoglobin, hematocrit, red blood cell count, serum calcium, serum phosphorous, parathyroid hormone, physical function (6-min walk test) and nutritional status (Geriatric Nutritional Risk Index) during the first 6 months. The trial follow-up period was 12 months. Results The study included 74 participants (44 males) with an age average of 64 ± 12 years old and a dialysis history of 27 ± 12 months, randomized to intervention (n = 37) or control (n = 37). Compared with controls, 1-year survival was higher in the intervention group (94% vs 73%, P = 0.01). The hazard ratio in univariate analysis in intervention group was 0.17 (95% CI 0.04–0.8; P = 0.02) compared to that in control group. During the 6-month intervention period, significant between-group changes were observed in all secondary outcomes between the intervention and control groups. Conclusion Intradialytic exercise performed for at least 60 min during thrice weekly dialysis sessions improves survival in adult patients receiving HD. Trial registration ClinicalTrials.gov Identifier: NCT04898608. Retrospectively registered on 24/05/2021. Registered trial name: The Effect of Intradialytic Exercise on Dialysis Patients Survival.
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What to read about the Scottish independence movementThese six books of history, politics and literature deal in different ways with the future of Scotland and, by extension, that of the United Kingdom
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The association between combustible/electronic cigarette use and stroke based on national health and nutrition examination survey - BMC Public HealthAims This study aims to analyze the association between combustible/electronic cigarettes and the risk of stroke. Methods We obtained data from the 2017–2018 National Health and Nutrition Examination Survey (NHANES). The stroke history and combustible/electronic cigarette use were acquired by questionnaires. Considering the sole or dual use of combustible cigarettes and electronic cigarettes (e-cigarettes), we divided all the individuals into four subgroups, including nonsmokers (reference group), sole combustible cigarette, sole e-cigarette, and dual use of both combustible cigarettes and e-cigarettes. We performed multivariable logistic regression to determine the association between cigarette use with the prevalence of stroke. We used odds ratios (ORs) with 95% confidence intervals (CIs) to show the effect size. Finally, we developed a prediction model to evaluate the risk of stroke for individuals with combustible or electronic cigarette use based on a random forest model. Results We included a total of 4022 participants in the study. The median age was 55, and 48.3% of the participants were males. When we adjusted for age, gender, education attainment, race, total-to-HDL cholesterol (| 5.9 or ≥ 5.9), diabetes, hypertension, and alcohol consumption, the groups of sole e-cigarette use, sole combustible cigarette use, and dual use of combustible and electronic cigarettes were significantly associated with the prevalence of stroke with ORs (with 95%CI) of 2.07 (1.04–3.81), 2.36 (1.52–3.59), 2.34 (1.44–3.68), respectively. In the testing set, the AUC was 0.74 (95%CI = 0.65–0.84), sensitivity was 0.68, and specificity was 0.75. Conclusion Sole e-cigarettes and dual use of e-cigarettes with combustible cigarettes might increase the risk of stroke.
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The association of maternal anaemia with adverse maternal and foetal outcomes in Somali women: a prospective study - BMC Women's HealthBackground Anaemia in pregnant women is one of the most common public health problems, especially in low- and middle-income countries, such as Somalia. This study aimed to examine the association between the severity of anaemia during pregnancy and the risk of adverse maternal and foetal outcomes in Somali women. Methods We prospectively enrolled pregnant women who had deliveries from May 1 to December 1, 2022, at Mogadishu Somali Turkey Recep Tayyip Erdoğan Training and Research Hospital. Blood haemoglobin levels were measured for each participant at admission for delivery. Anaemia was defined as a haemoglobin level of less than 11 g/dL, with mild (10 to 10.9 g/dL), moderate (7 to 9.9 g/dL), and severe (| 7 g/dL) forms. The associations between maternal anaemia and maternal-foetal outcomes were investigated. Results The study included 1186 consecutive pregnant women (mean age 26.9 years, range 16–47). The incidence of maternal anaemia at delivery was 64.8%, with 33.8%, 59.8%, and 6.4% of women having mild, moderate and severe forms, respectively. Anaemia at delivery was associated with increased oxytocin administration to prompt labour (OR, 2.25, 95% CI, 1.34–3.78). Both moderate and severe anaemia were associated with increased risks for postpartum haemorrhage (moderate, OR, 4.93; severe, OR, 41.30) and the need for maternal blood transfusions (moderate, OR, 9.66; severe, OR, 301.50). In addition, severe anaemia was associated with increased risks for preterm delivery (OR, 2.50, 95% CI, 1.35–4.63), low birth weight (OR, 3.45, 95% CI, 1.87–6.35), stillbirths (OR, 4.02, 95% CI, 1.79–8.98), placental abruption (OR, 58.04,95% CI, 6.83–493.27) and maternal ICU admission (OR, 8.33, 95% CI, 3.53–19.63). Conclusion Our findings suggest that anaemia in pregnancy is associated with adverse maternal and foetal outcomes, with moderate or severe anaemia leading to increased risks for peri-, intra- and postpartum complications and that treatment of severe anaemia in pregnant wo
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Face mask recommendations in schools did not impact COVID-19 incidence among 10–12-year-olds in Finland – joinpoint regression analysis - BMC Public HealthBackground In autumn 2021 in Finland, a recommendation to use face masks was implemented nationwide in schools for pupils ages 12 years and above. While national guidelines were in form of recommendations, cities implemented mandatory masking in schools. Some cities extended this mandate for younger pupils as well. Our aim was to compare COVID-19 incidence among 10–12-year-olds between cities with different recommendations on the use of face masks in schools. Methods COVID-19 case numbers, defined as positive laboratory verified SARS-CoV-2 test results, were obtained from the National Infectious Disease Registry (NIDR) of the Finnish Institute for Health and Welfare. Helsinki, Turku and Tampere were selected for comparison since the baseline COVID-19 incidence in the cities had been similar in August and September 2021. Helsinki and Tampere implemented the national recommendation on face mask use at schools, while Turku extended this to include those 10 years old and above, starting from the beginning of semester in early August. Age groups of 7–9-year-olds, 10–12-year-olds and 30–49-year-olds were included in the statistical analysis and moving averages of 14-day incidences per 100 000 inhabitants were used as a dependent variable. Joinpoint regression was used to estimate average percent changes (APC) and average daily percent changes (ADPC) in the 14-day incidences. Differences in the ADPC values between the cities were compared in one-month periods. We also calculated cumulative incidences from the beginning of August to the end of November in the cities by age group. Results In August, the ADPC was highest in Turku (3.9) and lowest in Tampere (2.0), while in September, the ADPC was highest in Turku (-0.3) and lowest in Helsinki (-3.2) among 10–12-year-olds. In October, the ADPC was highest in Helsinki (2.1) and lowest in Turku (-0.2) and in November, the ADPC was highest in Turku (4.1) and lowest in Tampere (-0.5) among 10–12-year-olds. We also calculated cumul
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