A Systematic Review for the Management of the Genetically Defined Il-1-Mediated Autoinflammatory Diseases, Caps, Traps, Mkd and Dira

Background:Ultra-rare genetically defined IL-1 mediated autoinflammatory diseases (AIDs) include mevalonate kinase deficiency (MKD), tumor necrosis factor receptor associated periodic syndrome (TRAPS), cryopyrinopathies (CAPS) and deficiency of the IL-1 receptor antagonist (DIRA). These disorders start perinatally, the clinical disease manifestations include systemic inflammation; and late diagnosis and inappropriate treatment cause irreversible organ damage. The varying skills of treating rheumatologists and paediatricians illustrate the need for management guidance, however criteria for validated methodology is geared towards common diseases with more heterogeneous pathogenesis.Objectives:The focus of this systematic review includes the evaluation of the existing literature and the evaluation of existing EULAR methodology for use in the ultra-rare diseases with defined pathomechanisms, CAPS, TRAPS, MKD and DIRAMethods:EULAR standardized operating procedures were followed during the review, including a meeting of experts to discuss key words, inclusion/exclusion criteria and PICO questions. Three fellows established the protocol of the review under the supervision of the EULAR methodologist and PubMed, Embase, and Cochrane databases were searched up to September 30, 2019.Results:We found 1582 articles for CAPS, 1109 articles for TRAPS,1741 articles for MKD and 557 articles for DIRA. Duplications, animal models and basic science studies, conference papers, systematic reviews/meta-analysis and articles not in English language is excluded. If we excluded case reports (n<4), then 72 articles for CAPS, 40 articles for TRAPS,44 articles for MKD and 1 article for DIRA should be included for full text evaluation and data extraction (Figure 1). However among the case reports, patients excluded achieved complete remission, assessed by clinical criteria and biomarkers. Of the studies included only few randomized studies for CAPS, TRAPS, MKD, and DIRA and would achieve higher level of evidence (Figure 1).Figure 1.Flow-charts of systematic review for CAPS, TRAPS and MKD.Conclusion:CAPS, TRAPS, MKD and DIRA are monogenic diseases with defined pathways and outcomes that include inflammatory remission based on clinical and biomarker data. Current methodological evaluations for genetically complex diseases undervalue the published evidence in case reports that report on remission and IL-1 biomarkers. We suggest that case studies that include hard outcomes includinginflammatory remission, and open label withdrawal studies that are both backed by biomarkers could be allowed to be included and be considered for a stronger evidence level.References:[1]van der Heijde D, Aletaha D, Carmona L, et al 2014 Update of the EULAR standardised operating procedures for EULAR-endorsed recommendations Annals of the Rheumatic Diseases 2015;74:8-13.[2]Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO). Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019 Aug;78(8):1025-1032.Disclosure of Interests:Roberta Berard: None declared, micol romano: None declared, Zehra Serap Arici: None declared, David Piskin: None declared, Olcay Jones: None declared, Karen Durrant: None declared, Raphaela Goldbach-Mansky: None declared, Marco Gattorno Consultant of: Sobi, Novartis, Speakers bureau: Sobi, Novartis, Erkan Demirkaya: None declare

Uterine mullerian adenosarcoma with sarcomatous overgrowth fatal recurrence within two weeks of diagnosis: a case report

Mullerian adenosarcoma with sarcomatous overgrowth (MASO) is a rare variant of uterine sarcomas, associated with postoperative recurrence, metastases and a fatal outcome. The mean age at diagnosis is 54.5 years. A 37-year-old nullipara presented with irregular vaginal bleeding, a normal pelvic examination, and an initially negative ultrasound. Repeat ultrasound one month later revealed an 11-cm heterogeneous pelvic mass. She underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy. Pathology confirmed uterine MASO. Computed tomography 2 weeks postoperatively showed a huge mass compatible with recurrence. Patient died 2 weeks later. MASO is rarely diagnosed in women in their 4th decade. This case stresses that these aggressive tumors should be considered in the differential of patients with vaginal bleeding and pelvic masses irrespective of their age

A population-based survey of Chronic REnal Disease In Turkey—the CREDIT study

Background. Chronic kidney disease (CKD) is a growing health problem worldwide that leads to end-stage kidney failure and cardiovascular complications. We aimed to determine the prevalence of CKD in Turkey, and to evaluate relationships between CKD and cardiovascular risk factors in a population-based survey

Clinical characterization of Italian suicide attempters with bipolar disorder

Introduction: Bipolar disorder (BD) is a chronic, highly disabling condition associated with psychiatric/medical comorbidity and substantive morbidity, mortality, and suicide risks. In prior reports, varying parameters have been associated with suicide risk. Objectives: To evaluate sociodemographic and clinical variables characterizing Italian individuals with BD with versus without prior suicide attempt (PSA). Methods: A sample of 362 Italian patients categorized as BD according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM IV-TR) was assessed and divided in 2 subgroups: with and without PSA. Sociodemographic and clinical variables were compared between prior attempters and non-attempters using corrected multivariate analysis of variance (MANOVA). Results: More than one-fourth of BD patients (26.2%) had a PSA, with approximately one-third (31%) of these having>1 PSA. Depressive polarity at onset, higher number of psychiatric hospitalizations, comorbid alcohol abuse, comorbid eating disorders, and psychiatric poly-comorbidity were significantly more frequent (p<.05) in patients with versus without PSA. Additionally, treatment with lithium, polypharmacotherapy (\ue2\u89\ua54 current drugs) and previous psychosocial rehabilitation were significantly more often present in patients with versus without PSA. Conclusions: We found several clinical variables associated with PSA in BD patients. Even though these retrospective findings did not address causality, they could be clinically relevant to better understanding suicidal behavior in BD and adopting proper strategies to prevent suicide in higher risk patients

Cognitive disorders in patients with chronic kidney disease: specificities of clinical assessment

Neurocognitive disorders are frequent among chronic kidney disease (CKD) patients. Identifying and characterizing cognitive impairment (CI) can help to assess the ability of adherence to CKD risk reduction strategy, identify potentially reversible causes of cognitive decline, modify pharmacotherapy, educate the patient and caregiver and provide appropriate patient and caregiver support. Numerous factors are associated with the development and progression of CI in CKD patients and various conditions can influence the results of cognitive assessment in these patients. Here we review clinical warning signs that should lead to cognitive screening; conditions frequent in CKD at risk to interfere with cognitive testing or performance, including specificities of cognitive assessment in dialysis patients or after kidney transplantation; and available tests for screening and observed cognitive patterns in CKD patients

Investigation on Photovoltaic Performance based on Matchstick-Like Cu2S–In2S3Heterostructure Nanocrystals and Polymer

In this paper, we synthesized a novel type II cuprous sulfide (Cu2S)–indium sulfide (In2S3) heterostructure nanocrystals with matchstick-like morphology in pure dodecanethiol. The photovoltaic properties of the heterostructure nanocrystals were investigated based on the blends of the nanocrystals and poly(2-methoxy-5-(2′-ethylhexoxy)-p-phenylenevinylene) (MEH-PPV). In comparison with the photovoltaic properties of the blends of Cu2S or In2S3nanocrystals alone and MEH-PPV, the power conversion efficiency of the hybrid device based on blend of Cu2S–In2S3and MEH-PPV is enhanced by ~3–5 times. This improvement is consistent with the improved exciton dissociation or separation and better charge transport abilities in type II heterostructure nanocrystals