Our study suggests a need for detecting the carriers. This is the first step for the construction of a national database and provides information for health planners and policy makers to help them in planning programs and allocation resources. The molecular testing was well received by pregnant women and appears to be feasible and highly acceptable.

DFNB1 locus has been linked to a nonsyndromic "invisible disability" called congenital sensorineural hearing loss and deafness. Mutations of GJB2 and GJB6 genes are associated with deafness at the DFNB1 locus. The diagnosis of DFNB1 is made with molecular genetic testing. DNA-based testing can be used both prenatally and postnatally. Purpose: To get evidence for implementation of newborn hearing screening programs at national level; to use the molecular testing of children at risk for confirmation of diagnosis and early intervention. OAEs and ABR were performed for 4303 newborns. Audiologic evaluation of 38 children suspected of having hearing loss was performed too. Physical examinations and family history were used to get information about congenital deafness. DNA from blood samples was isolated, and two PCR multiplex assays were developed to detect DFNB1 mutations. Only 23 newborns were screened positive. Newborns were referred to audiologic evaluation, genetic counseling and testing for the etiologic diagnosis. Physical examination revealed no other abnormal findings. GJB2 mutations were detected in 36.03% of patients, and all of them have 35delG mutation. None of them was found to have GJB6 mutations. Our results suggested that molecular testing was an accurate method of early determining cause of congenital hearing loss and helped us to exclude GJB6 gene from the routine hearing screening protocol.

Background:Physicians face challenges staying up-to-date with the latest research and accessing the ever-growing field of knowledge is time-consuming. Online education can make these clinician’s tasks more efficient and less time-consuming.Objectives:This study assessed whether the online CME accredited round-table-discussion with title “Meet the JAKs: Understanding the Role of Janus Kinase Inhibition in RA” improves physicians’ understanding mechanism of action (MOA) of current and emerging Janus kinase (JAK) inhibitors and rationale for their development in rheumatoid arthritis (RA).Methods:Rheumatologists participated in an online CME activity (https://www.medscape.org/viewarticle/913625) consisting of a 30-minute video discussion between 2 experts with accompanying slides. Educational effect was assessed using a 4-question repeated pairs, pre-/post-assessment. A chi-square test was used to determine if a statistically significant improvement (P<.05 significance level) existed in the number of correct responses from the pretest and posttest scores. Cramer’s V was used to estimate the level of impact of the education. The CME activity launched on June 4, 2019, and the data were collected through September 3, 2019.Results:A total of 107 rheumatologists completed the pre- and post activity assessments. Overall the activity had a signficiant impact (P<.001) on rheumatologists’ knowledge of JAK inhibitors and relatedclinical trial data with a Cramer’s V value of 0.319 indicating an extensive educational impact. The average percentage of correct responses rose from 47% pre-activity to 78% post-activity. The repeated pairs analysis (each individual learner tracked pre- and post-education) showed that 34% of learners improved their knowledge and 44% reinforced their knowledge. The change in percentage of correct responses from pre- to post-assessment achieved statistical significance for all 3 questions presented: (1) understanding the MOA of JAK inhibitors vs biologics (64% at baseline rising to 82% post acivity;P<0.01), (2) understanding the specificity of different JAK inhibitors (49% at baseline rising to 85% post acivity;P<.001), (3) knowledge of clinical trial outcomes with JAK inhibitors (29% at baseline rising to 67% post acivity;P<.001) and (4) 60% of rheumatologists gained confidence in their ability to describe the MOA of current and emerging JAK inhibitors.Conclusion:This online CME activity significantly improved rheumatologists’ understanding of JAK inhibitors mode of action. However, there is clearly room for further improving physicians’ knowledge of clinical trial outcomes with these agents, since one third of rheumatologists provided incorrect answers to question 3 post-activity) and this topic can be further addressed in future education.Acknowledgments:This CME-certified activity was supported by anindependent educational grant from AbbVie.Disclosure of Interests:Adriana Stan Grant/research support from: The CME-certified activity was supported by anindependent educational grant from Sandoz., Marinella Calle Grant/research support from: This CME-certified activity was supported by anindependent educational grant from Novartis AG, Camille Scot-Smith Grant/research support from: This CME-certified activity was supported by anindependent educational grant from AbbVie, Ronald van Vollenhoven Grant/research support from: BMS, GSK, Lilly, UCB, Pfizer, Roche, Consultant of: AbbVie, AstraZeneca, Biogen, Biotest, Celgene, Gilead, Janssen, Pfizer, Servier, UCB, Speakers bureau: AbbVie, Pfizer, UCB

Background:Physicians face challenges staying up-to-date with the latest research and accessing the ever-growing field of knowledge is time-consuming. Online education can make these clinician’s tasks more efficient and less time-consuming.Objectives:As part of a larger curriculum, we developed an online CME activity titled: “Optimizing Treatment in Patients With Moderate to Severe Psoriasis”. The goal of this study was to assess whether this online CME accredited video discussion improves physicians’ understanding of the prevalence and impact of the various manifestations of psoriatic disease, and how these might impact the choice of treatment in patients with psoriasis and/or psoriatic arthritis.Methods:Rheumatologists participated in an online CME activity (https://www.medscape.org/viewarticle/931595) consisting of a 30-minute video discussion between 2 experts with synchronized slides. Educational effect was assessed using a 4-question repeated pairs, pre-/post-assessment. A chi-square test determined if a statistically significant improvement (P <.05 significance level) existed in the number of correct responses from the pretest and posttest scores. Cramer’s V was used to estimate the level of impact of the education (Modest [.0]; Extensive [>.26]). The CME activity launched on Jul 6, 2020, and the data were collected through Aug 31, 2020.Results:A total of 54 rheumatologists completed the pre- and post activity assessments during the study period. Overall the activity had a signficiant impact (P =.0002) on rheumatologists’ knowledge and competence related to optimisation of treatment in psoriatic disease, with a Cramer’s V value of 0.210 indicating a considerable educational impact. The average percentage of correct responses rose from 67% pre-activity to 85% post-activity. A repeated pairs analysis showed that 21% of rheumatologists improved their knowledge and 64% reinforced their knowledge, respectively. The changes in percentage of correct responses from pre- to post-assessment for all questions are shown in Table 1. More than 60% of rheumatologists had a measurable improvement in confidence in their ability to identify patients with psoriatic disease who are candidates for first-line therapy with biologics.Table 1.Impact of education on rheumatologists’ knowledge of psoriatic diseaseQuestion #Question topicAggregated dataLinked Learner ResultsaAverage % of correct responses Pre- vs. Post-educationP-value% ImprovedblearnersPre- vs. Post-education% Reinforcedc learnersPre- vs. Post-education1.Prevalence of the various manifestations of psoriatic disease46% vs 80%.000235%44%2.Clinical data with biologic therapies in psoriatic disease69% vs 78%NS17%61%3.Competence related to identification of patients who may benefit from biologic therapy87% vs 98%.02711%87%aEach individual learner tracked pre and post-educationbIncorrect answer pre-education, Correct answer post-educationcCorrect answer pre-education, Correct answer post-educationConclusion:This online CME activity significantly improved rheumatologists’ knowledge and competence related to the optimization of treatment in psoriatic disease. However, there is room for further improving physicians’ knowledge of clinical trial outcomes with biologics in patients with PsA, since 22% of rheumatologists provided incorrect answers to question 3 post-education. This topic can be addressed in future educational programs.Disclosure of Interests:None declared

Background:Physicians face challenges staying up-to-date with the latest research and accessing the ever-growing field of knowledge is time-consuming. Online education can make these clinician’s tasks more efficient and less time-consuming.Objectives:As part of a larger curriculum, we developed an online CME activity titled: “Enthesitis in Psoriatic Arthritis: Disease, Diagnosis and Decisions”. The goal of this study was to assess whether this online CME accredited video discussion improves physicians’ understanding of the role of enthesitis in the diagnosis and management of patients with psoriatic arthritis (PsA) in clinical practice.Methods:Rheumatologists participated in an online CME activity (https://www.medscape.org/viewarticle/910671) consisting of a 30-minute video discussion between 2 experts with accompanying slides. Educational effect was assessed using a 4-question repeated pairs, pre-/post-assessment. A chi-square test was used to determine if a statistically significant improvement (P<.05 significance level) existed in the number of correct responses from the pretest and posttest scores. Cramer’s V was used to estimate the level of impact of the education. The CME activity launched on March 28, 2019, and the data were collected through June 7, 2019.Results:A total of 145 rheumatologists completed the pre- and post activity assessments. Overall the activity had a signficiant impact (P<.0001) on rheumatologists’ knowledge of the role of enthesitis in the diagnosis and management of PsA, with a Cramer’s V value of 0.153 indicating a noticeble educational impact. The average percentage of correct responses rose from 54% pre-activity to 69% post-activity. A repeated pairs analysis showed that 22% of rheumatologists improved their knowledge and 47% reinforced their knowledge, respectively. The change in percentage of correct responses from pre- to post-assessment for all questions are shown in table. Almost 40% of rheumatologists had a measurable improvement in confidence in their ability to evaluate the presence of enthesitis according to a clinical exam or ultrasound.Table.Impact of education on rheumatologists’ knowledge of enthesitisQuestion #Question topicAggregated dataLinked Learner ResultsaAverage % of correct responses Pre- vs. Post-educationP-value% ImprovedblearnersPre- vs. Post-education% ReinforcedclearnersPre- vs. Post-education1.Immunopathology of PsA75% vs 84%.057912%72%2.Prevalence of enthesitis in patients with PsA44% vs 68%<.000133%34%3.Clinical trial outcomes in patients with enthesitis43% vs 56%.034522%34%aEach individual learner tracked pre and post-educationbIncorrect answer pre-education, Correct answer post-educationcCorrect answer pre-education, Correct answer post-educationConclusion:This online CME activity significantly improved rheumatologists’ understanding of role of enthesitis in the diagnosis and management of PsA. However, there is clearly room for further improving physicians’ knowledge of clinical trial outcomes with biologics in patients with enthesitis, since 44% of rheumatologists provided incorrect answers to question 3 post-education. This topic can be addressed in future education.Acknowledgments:This CME-certified activity was supported by independent funding from Novartis AG.Disclosure of Interests:Adriana Stan Grant/research support from: The CME-certified activity was supported by an independent educational grant from Sandoz., Marinella Calle Grant/research support from: This CME-certified activity was supported by an independent educational grant from Novartis AG, Peter Schoonheim Grant/research support from: This CME-certified activity was supported by independent funding from Sandoz., Philip J Mease Grant/research support from: Abbott, Amgen, Biogen Idec, BMS, Celgene Corporation, Eli Lilly, Novartis, Pfizer, Sun Pharmaceutical, UCB – grant/research support, Consultant of: Abbott, Amgen, Biogen Idec, BMS, Celgene Corporation, Eli Lilly, Novartis, Pfizer, Sun Pharmaceutical, UCB – consultant, Speakers bureau: Abbott, Amgen, Biogen Idec, BMS, Eli Lilly, Genentech, Janssen, Pfizer, UCB – speakers bureau

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Background:Biologics are complex proteins which have revolutionized the treatment of many serious diseases. Due to their complexity and manufacturing which involves living organisms, it is not possible to create identical versions of reference biologics, but it is possible to create biosimilar drugs. Biosimilars have the potential to yield high cost savings and expand treatment options to meet the growing demand for biological therapies.Objectives:This study assessed whether the online CME-accredited round-table-discussion titled “Understanding Biologics: from protein to clinical practice” improved physicians’ understanding of the inherent variability of biologics and what similarity means in the context of biologics as well as the analytical assessment of quality that applies to both biologics and biosimilars.Methods:Rheumatologists participated in an online CME activity (www.medscape.org/viewarticle/900121) consisting of a 30-minute video discussion between 4 experts with accompanying slides. Educational effect was assessed using a 4-question repeated pairs, pre-/post-assessment. A chi-square test was used to determine if a statistically significant improvement (P<.05 significance level) existed in the number of pre-/post-test correct responses. Cramer’s V was used to estimate the level of impact of the education. The CME activity launched on 22 Aug 2018, and the data were collected through 9 Oct 2018.Results:A total of 622 rheumatologists participated in the educational activity, and 87 completed the pre- and postassessment. Overall the activity had a signficiant impact (P<.001) on rheumatologists’ understanding of the inherent variability of biologics and the regulatory requirements for approval of a biosimilar. The Cramer’s V value of 0.186 indicates a considerable effect of the education. The average perecentage of correct responses rose from 33% pre-activity to 51% post-activity. A linked learning assessment (individual responses matched pre- and post-education) showed that 25% of learners improved their knowledge and 26% reinforced their knowledge. The change in percentage of correct responses from pre- to post-assessment achieved statistical significance (P<.05) in 2 of the 3 questions presented: (i) understanding the type of studies needed to demonstrate comparability of a biosimilar to an originator (11% at baseline; 45% post activity), (ii) understanding the type of variability considered acceptable for a biologic (46% at baseline; 63% post activity). However, no knowledge gain was observed regarding basic analytic attributes evaluated to ensure batch to batch consistency (37% at baseline; 38% post activity). Almost 45% of rheumatologists gained confidence in their ability to describe the regulatory requirements for approval of a biosimilar.Conclusion:This online CME activity significantly improved rheumatologists’ understanding of the inherent variability of complex biologic medicines and the role of analytical studies in the regulatory approval of biosimilars. However, there is room for further improving physicians’ knowledge, especially of basic analytics of biologics and biosimilars.Acknowledgments:This CME-certified activity was supported by independent funding from Sandoz.Disclosure of Interests:Adriana Stan Grant/research support from: The CME-certified activity was supported by anindependent educational grant from Sandoz., Elaine Bell: None declared, Peter Schoonheim Grant/research support from: This CME-certified activity was supported by independent funding from Sandoz., Eduardo Mysler Grant/research support from: AbbVie, Lilly, Pfizer, Roche, BMS, Sandoz, Amgen, and Janssen., Consultant of: AbbVie, Lilly, Pfizer, Roche, BMS, Sandoz, Amgen, and Janssen.

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