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Videos on obsessive-compulsive disorder (OCD) are widely available on YouTube. Individuals with OCD and their caregivers would likely watch these videos to understand this disorder. Videos presenting the information related to symptomatology and available treatment accurately and in an easy-to-understand manner would benefit the patients and the caregivers. On the other hand, inaccurate information may create confusion. Given this, the present research is aimed at analyzing the content, accuracy, and appropriateness of the YouTube videos on OCD. The quality of the YouTube videos on OCD, in terms of accuracy of the information provided, was assessed. Out of 330 videos, resulting from various search terms, 82 were found to be suitable for analysis. The videos were assessed for the accuracy of presented content on clinical symptoms, biological underpinnings, and treatment (pharmacological and non-pharmacological) as well as their educational utility. Majority of the videos provided accurate description of obsessions (82.9%) and compulsions (74.4%) and 21.9% of the videos mentioned biological underpinnings of OCD. Treatment options, both pharmacotherapy and psychotherapy, were mentioned in 32.71% and 41.5% of the videos, respectively. Overall, 69.5% of the videos had useful educational utility. Findings have been discussed in terms of their practical utility.Diamond-Blackfan anemia (DBA) is mainly caused by pathogenic variants in ribosomal proteins and 22 responsible genes have been identified to date. The most common causative gene of DBA is RPS19 [NM_001022.4]. Nearly 180 RPS19 variants have been reported, including three deep intronic variants outside the splicing consensus sequence (c.72-92A > G, c.356 + 18G > C, and c.411 + 6G > C). We also identified one case with a c.412-3C > G intronic variant. Without conducting transcript analysis, the pathogenicity of these variants is unknown. However, it is difficult to assess transcripts because of their fragility. In such cases, in vitro functional splicing assays can be used to assess pathogenicity. Here, we report functional splicing analysis results of four RPS19 deep intronic variants identified in our case and in previously reported cases. One splicing consensus variant (c.411 + 1G > A) was also examined as a positive control. Aberrant splicing with a 2-bp insertion between exons 5 and 6 was identified in the patient samples and minigene assay results also identified exon 6 skipping in our case. The exon 6 skipping transcript was confirmed by further evaluation using quantitative RT-PCR. Additionally, minigene assay analysis of three reported deep intronic variants revealed that none of them showed aberrant splicing and that these variants were not considered to be pathogenic. In conclusion, the minigene assay is a useful method for functional splicing analysis of inherited disease.Objectives This study aimed to assess the contribution of traditional/disease-related risk factors and biomarkers linked to arterial and venous thrombotic events (TEs) in patients with idiopathic inflammatory myopathies (IIMs).Method The occurrence of arterial and/or venous TEs at the time of or after IIM diagnosis was retrospectively evaluated in a cohort of 253 patients with IIMs, resulting in a final population of 246 IIM patients, 51 with reported TE (cases) and 195 without a history of TE (comparators). Information on disease characteristics and traditional risk factors for arterial and venous TE (essential hypertension, diabetes, dyslipidaemia, smoking, malignancy) was retrieved. Serum levels of anti-phospholipid antibodies (aPLs) and adhesion molecules were analysed at the time of IIM diagnosis and at the time of the TE in cases.Results One in five IIM patients (21%) had experienced a TE, arterial TE in 22 and venous TE in 29 patients, with a peak prevalence within 5 years after diagnosis. Among traditional/disease-related risk factors, only older age was associated with both arterial and venous TEs, after adjusting for other covariates. Low serum levels of e-selectin were associated with higher odds of developing a TE, without specific association with either arterial or venous TEs. Only 6% of IIM patients had aPLs, with no significant difference between cases and comparators.Conclusions An increased risk of both venous and arterial TEs should be considered in IIM patients, particularly close to diagnosis and in elderly people. Low serum levels of e-selectin may predict TE in IIM patients, but the underlying biological mechanism is not known.Objective Pregnancy may influence the course of inflammatory rheumatic diseases and, conversely, rheumatic and musculoskeletal diseases (RMDs) can affect the outcome of pregnancy. This study aimed to retrospectively analyse the outcome of pregnancy and disease in women with RMDs.Method Subjects were patients with high-risk pregnancy and connective tissue diseases (CTDs) or inflammatory joint diseases (IJDs) managed at a specialized rheumatology outpatient clinic from 2007 to 2014. https://www.selleckchem.com/products/tocilizumab.html Data from conception to 6 months postpartum were collected from medical records and a questionnaire, and analysed regarding clinical symptoms, medications, pregnancy complications, birth outcomes, and infant development. Generalized estimating equations were used to compare the groups (CTD vs IJD).Results The eligible 66 pregnancies in 57 RMD patients were divided into two groups by RMD type CTD (n = 48) or IJD (n = 18). The live birth rate was 97% overall. Pregnancy complications (excluding two twin pregnancies) were incurred in 39.1% miscarriage (n = 2), premature delivery (n = 12), small-for-gestational-age infants (n = 5), and/or pregnancy-related diseases (n = 14). Three children born to women with CTDs had affected development (autism spectrum disorder, congenital heart disease, bronchopulmonary dysplasia). CTD infants had a significantly lower mean gestational age (in weeks) (p = 0.042), weight (p = 0.009), and length (p = 0.016) at birth than IJD infants.Conclusion Although the live birth rate was high, complications occurred in 39.1% of pregnancies in this cohort. Therefore, interdisciplinary management of pregnant women with RMDs at specialized clinics is strongly recommended.
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