5 research outputs found

    Polymorphism in factor VII gene modifies phenotype of severe haemophilia

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    The basis for 10-15% of patients with severe haemophilia having clinically mild disease is not fully understood. We hypothesized that polymorphisms in various coagulant factors may affect frequency of bleeding while functionally significant polymorphisms in inflammatory and immunoregulatory genes may also contribute to variations in the extent of joint damage. These variables were studied in patients with severe haemophilia, who were categorized as 'mild' (<5 bleeds in the preceding year, <10 World Federation of Haemophilia clinical and <10 Pettersson scores, n = 14) or 'severe' (all others, n = 100). A total of 53 parameters were studied in each individual for their association with the clinical severity. Age, F8:c activity and the incidence of thrombotic markers were comparable between the groups while the median number of bleeds, number of affected joints, clinical, radiological and functional joint scores (P ≤ = 0.001) and life-time clotting factor use (P = 0.007) were different. Patients with severe molecular defects had a 4.1-fold increased risk for a severe phenotype (95% CI: 1.18-14.42, P = 0.026) compared with other mutations. Of the polymorphisms studied, the FVII353Q (RR = 3.5, 95% CI: 1.04-12.05, P = 0.044) allele was associated with a severe phenotype. This data shows that apart from the F8/F9 genotype, functional polymorphisms in FVII gene affect the phenotype of patients with severe haemophilia

    The burden of mental disorders across the states of India: the Global Burden of Disease Study 1990–2017

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    Background: Mental disorders are among the leading causes of non-fatal disease burden in India, but a systematic understanding of their prevalence, disease burden, and risk factors is not readily available for each state of India. In this report, we describe the prevalence and disease burden of each mental disorder for the states of India, from 1990 to 2017. Methods: We used all accessible data from multiple sources to estimate the prevalence of mental disorders, years lived with disability (YLDs), and disability-adjusted life-years (DALYs) caused by these disorders for all the states of India from 1990 to 2017, as part of the Global Burden of Diseases, Injuries, and Risk Factors Study. We assessed the heterogeneity and time trends of mental disorders across the states of India. We grouped states on the basis of their Socio-demographic Index (SDI), which is a composite measure of per-capita income, mean education, and fertility rate in women younger than 25 years. We also assessed the association of major mental disorders with suicide deaths. We calculated 95% uncertainty intervals (UIs) for the point estimates. Findings: In 2017, 197·3 million (95% UI 178·4–216·4) people had mental disorders in India, including 45·7 million (42·4–49·8) with depressive disorders and 44·9 million (41·2–48·9) with anxiety disorders. We found a significant, but modest, correlation between the prevalence of depressive disorders and suicide death rate at the state level for females (r=0·33, p=0·0009) and males (r=0·19, p=0·015). The contribution of mental disorders to the total DALYs in India increased from 2·5% (2·0–3·1) in 1990 to 4·7% (3·7–5·6) in 2017. In 2017, depressive disorders contributed the most to the total mental disorders DALYs (33·8%, 29·5–38·5), followed by anxiety disorders (19·0%, 15·9–22·4), idiopathic developmental intellectual disability (IDID; 10·8%, 6·3–15·9), schizophrenia (9·8%, 7·7–12·4), bipolar disorder (6·9%, 4·9–9·6), conduct disorder (5·9%, 4·0–8·1), autism spectrum disorders (3·2%, 2·7–3·8), eating disorders (2·2%, 1·7–2·8), and attention-deficit hyperactivity disorder (ADHD; 0·3%, 0·2–0·5); other mental disorders comprised 8·0% (6·1–10·1) of DALYs. Almost all (>99·9%) of these DALYs were made up of YLDs. The DALY rate point estimates of mental disorders with onset predominantly in childhood and adolescence (IDID, conduct disorder, autism spectrum disorders, and ADHD) were higher in low SDI states than in middle SDI and high SDI states in 2017, whereas the trend was reversed for mental disorders that manifest predominantly during adulthood. Although the prevalence of mental disorders with onset in childhood and adolescence decreased in India from 1990 to 2017, with a stronger decrease in high SDI and middle SDI states than in low SDI states, the prevalence of mental disorders that manifest predominantly during adulthood increased during this period. Interpretation: One in seven Indians were affected by mental disorders of varying severity in 2017. The proportional contribution of mental disorders to the total disease burden in India has almost doubled since 1990. Substantial variations exist between states in the burden from different mental disorders and in their trends over time. These state-specific trends of each mental disorder reported here could guide appropriate policies and health system response to more effectively address the burden of mental disorders in India. Funding: Bill & Melinda Gates Foundation; and Indian Council of Medical Research, Department of Health Research, Ministry of Health and Family Welfare, Government of India

    Proceedings of International Web Conference in Civil Engineering for a Sustainable Planet

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    This proceeding contains articles of the various research ideas of the academic community and practitioners accepted at the "International Web Conference in Civil Engineering for a Sustainable Planet (ICCESP 2021)". ICCESP 2021 is being Organized by the Habilete Learning Solutions, Kollam in Collaboration with American Society of Civil Engineers (ASCE), TKM College of Engineering, Kollam, and Baselios Mathews II College of Engineering, Kollam, Kerala, India. Conference Title: International Web Conference in Civil Engineering for a Sustainable PlanetConference Acronym: ICCESP 2021Conference Date: 05–06 March 2021Conference Location: Online (Virtual Mode)Conference Organizer: Habilete Learning Solutions, Kollam, Kerala, IndiaCollaborators: American Society of Civil Engineers (ASCE), TKM College of Engineering, Kollam, and Baselios Mathews II College of Engineering, Kollam, Kerala, India
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