Familial aggregation and heritability: a nationwide family-based study of idiopathic inflammatory myopathies

ObjectivesThe magnitude of the genetic contribution to idiopathic inflammatory myopathies (IIMs) is unknown. In this project, we aimed to investigate the familial aggregation and heritability of IIM.MethodsThis is a family-based study using nationwide healthcare register data in Sweden. We matched each patient with IIM to individuals without IIM, identified their first-degree relatives and determined the IIM status among all first-degree relatives. We estimated the adjusted ORs (aORs) of familial aggregation of IIM using conditional logistic regression. In addition, we used tetrachoric correlation to estimate the heritability of IIM.ResultsWe included 7615 first-degree relatives of 1620 patients with IIM diagnosed between 1997 and 2016 and 37 309 first-degree relatives of 7797 individuals without IIM. Compared with individuals without IIM, patients with IIM were more likely to have ≥1 first-degree relative affected by IIM (aOR=4.32, 95% CI 2.00 to 9.34). Furthermore, the aOR of familial aggregation of IIM in full siblings was 2.53 (95% CI 1.62 to 3.96). The heritability of IIM was 22% (95% CI 12% to 31%) among any first-degree relatives and 24% (95% CI 12% to 37%) among full siblings.ConclusionsIIM has a familial component with a risk of aggregation among first-degree relatives and a heritability of about 20%. This information is of importance for future aetiological studies and in clinical counselling.

Monochromatic higher order aberrations in highly myopic eyes with Staphyloma

Background Prevalence of high myopia is continuously increasing, thus, patients affected with staphyloma are abundant worldwide. Assessment of the quality of vision in these patients is mandatory for a proper clinical counselling, specially when undergoing surgical procedures that require intraocular lenses implantation. Thus, the purpose of the study was to assess monochromatic higher order aberrations (HOAs) in highly myopic eyes with staphyloma with or without a dome-shaped macula. Methods Participants underwent spectral-domain optical coherence tomography, ocular axial biometry, dual Scheimpflug photography and integrated Placido disk topography, and Hartmann-Shack wavefront analysis. Five groups were evaluated: a low-moderate myopia control group (< 6.00 diopters, n = 31) and four high myopia (≥6.00 diopters) groups: eyes without staphyloma (n = 18), eyes with inferior staphyloma (n = 14), eyes with posterior staphyloma without dome-shaped macula (n = 15) and eyes with posterior staphyloma with dome-shaped macula (n = 17). Subsequently, two new groups (including all participants) were created to assess differences between myopia with and without staphyloma. One-way analysis of covariance was performed using age and lens densitometry as covariates. Results Statistically significant (p ≤ 0.05) differences in anterior corneal fourth-order HOAs were observed between the low-moderate myopia and no-dome-shaped macula (Mean: 0.16 μm) and dome-shaped macula posterior staphyloma groups (Mean: 0.12 μm) in younger patients (≤45 years old). The same groups also showed (p ≤ 0.05) significant differences for anterior corneal primary spherical aberration (Mean: 0.19 and 0.13 μm, respectively). In addition, anterior corneal tetrafoil was significantly higher (p = 0.04) in dome-shaped macula compared to no-dome-shaped macula (Mean: 0.18 vs 0.06 μm, respectively). When all participants were grouped together, significantly lower mean anterior corneal primary spherical aberration (0.15 μm vs. 0.27 μm, p = 0.004) and higher internal primary spherical aberration (0.04 μm vs. -0.06 μm, p = 0.04) was observed in staphyloma compared to no-staphyloma myopic patients. Conclusions Eyes with high myopia and staphyloma have less positive anterior corneal primary spherical aberration and less negative internal primary spherical aberration, suggesting that the anterior corneal surface tends to mimic in a specular fashion the posterior pole profile. This corneal behaviour appears to change in patients older than 45 years.

Relationship between Self-Esteem, Jealousy and Anger in Emerging Adults

The present cross-sectional study explored the relationship between self-esteem, jealousy and anger in young adults. Researchers hypothesized that self-esteem would be negatively correlated with jealousy and anger; jealousy and anger will be positively related to each other. Low self- esteem was proposed as a predictor of jealousy and anger. A convenient sampling technique was used to draw a sample of 200 young adults (M= 100, W=100). Correlation analysis, simple linear regression and t-test were used. As per results, self-esteem was negatively related to jealousy and anger. Jealousy was positively related to anger. Low Self-esteem significantly predicted jealousy and anger. Furthermore, significant differences in self-esteem were observed for both genders as women scored higher for self-esteem but no significant differences were found on jealousy and anger. Also, significant differences in the family system for self-esteem and jealousy were found. Participants who belonged to the joint family system scored high on jealousy, whereas those from the nuclear family were high on self-esteem. Study implications are discussed with its application in clinical, counselling, educational and domestic settings.

Pregnancy-Related Thromboembolismin Sickle Cell Disease

Haematological disorders are predominant in the tropical and subtropical countries where major problems of sickle-cell disease (SCD) and thalassaemias are often recorded. However, reports of these conditions have increased in the Western hemisphere more recently. Genetic counselling, early detection of the disease condition, and determining an appropriate treatment regimen remains the solution. Most molecular types of SCD have been determined and the pathological impact of individual types along with the degree of severity is known to clinical investigators and physicians. There is, however, a significant need for a proper counselling system for the clinical diagnosis in most countries. Lack of funding, trained personnel, relevant physicians, instruments, and laboratories are the challenges to overcome. Pregnancy-associated SCD and thromboembolism require special mention due to their mortality rate, complexity of treatment, and care necessities. This review considers some of the most important aspects of pregnancy-associated SCD and thromboembolism, shedding light on the present understanding of the disease condition, pathology, clinical issues, the association with venous thromboembolism, recent treatment measures, and clinical and social management of pregnant women and fetuses for patients with SCD. Integrated social and clinical care along with extensive timely medical and clinical counselling for patients can improve the present situation which is growing in different countries. To save future generations and pregnant mothers from the haematological disorders that could be either prevented or treated, essential genetic screening or counselling should be made a priority by governments. In addition, social education and campaigns related to the disease condition can help to improve the situation.

EP35 What do patients with lupus know about cardiovascular risk: could dietary modification be a promising therapeutic?

Background Cardiovascular disease is the leading cause of mortality for patients with lupus. Understanding increased cardiovascular risk (CVR) in autoimmune diseases could improve CVR management in patients. The objective of a patient-focused event was to explore patient opinions about CVR and potential treatment options. A secondary objective was to learn about lupus patient experiences with diet including their opinion on considering diet as a therapeutic. Methods We hosted a patient event promoted through social media, relevant charities, hospitals and research groups. 13 patients with lupus and/or Sjögren’s syndrome attended and were asked about CVR using a questionnaire and round table discussion with researchers, clinicians and dietitians. In addition, a 15-question diet-based online survey was made publicly available for 3 weeks promoted through the same methods as the patient event. Results Sixty percent of patients were aware of the increased CVR associated with autoimmune rheumatic disease and 60% stated that their doctor had spoken to them about CVR. 73% thought that it was important for them to be aware of this increased CVR. When asked about medication to reduce CVR; no patients wanted to take a statin (lipid-lowering drug), however, 70% of patients would take statins if advised by their doctor. Conversely, respondents were more positive about using diet or taking a dietary supplement to reduce CVR; 71% would change their diet and 57% would take a supplement either on their own accord or on advice from health professionals. Some patients had already made changes to their diet to reduce their CVR, including reducing fat and increasing fruit and vegetable consumption. All attendees were prepared to participate in a clinical study using diet modification strategies, having vascular scans to assess atherosclerosis and provide blood samples for CVR research in lupus. An online survey was used to further assess lupus patient opinion on modifying their diet depending on their CVR. 284 responses were received over 3 weeks. Patients reported there was a lack of clinical counselling regarding diet with only 24% of patients stating that their doctor had spoken to them about diet. Despite this, 100% of patients stated that they would change their diet if they knew it would help their symptoms and 83% would take part in a diet-based clinical trial, supporting the results from the face-to-face patient event. Text analysis of patient research suggestions identified an interest in using diet to manage fatigue and disease activity. Conclusion This multidisciplinary event and online survey successfully gathered patient information regarding CVR and diet. The opinions and comments provided evidence that patients support further research in cardiovascular studies, a demand for increased CVR and dietary clinical counselling and a preference to changing their diet, whilst avoiding medication, to reduce their CVR. Disclosures G.A. Robinson None. E. Chocano Navarro None. K. Waddington None. T. Mcdonnell None. C. Wincup None. L. Martin-Gutierrez None. A. Maggio None. E. McLoughlin None. L. Rosser None. M. Naja None. D.A. Isenberg None. A.Z. Kalea None. C. Ciurtin None. I. Pineda-Torra None. E.C. Jury None.

Viral and Host Factors are Related to the Progression of HIV Diseases in Mimika, Papua

BACKGROUND: Papua has a high cumulative number of HIV, which has expanded epidemic status with the most risk factors are heterosexuals. AIM: This study aims to determine factors associated with HIV disease progression include host and viral factors. METHODS: Eighty-four subjects recruited in Rumah Sakit Mitra Masyarakat (RSMM) VCT’s laboratory, interviewed with questionnaires and also did laboratory examinations. HIV-1 subtypes were identified using RT-PCR, nested PCR and sequencing. Then, CD4+ data is checked using PIMA Analyzer. Demographic and clinical data obtained from the patient's medical record. After collected, data were analysed using Fisher's exact test. RESULTS: The results showed two factors that influence the progression of HIV disease were HIV subtypes (p = 0.002) and Body Mass Index (p = 0.033). The HIV-1 subtype also correlated with CD4+ levels with a value of p = 0.04. CONCLUSION: HIV-1 subtype correlates with HIV progression, so it is necessary to develop HIV/AIDS management strategies and clinical counselling.