Genetic variation and systemic lupus erythematosus: A field synopsis and systematic meta-analysis

Publication date: Available online 7 April 2018
Source:Autoimmunity Reviews
Author(s): Dong Yeon Jeong, Sang Woo Lee, Young Ha Park, Ji Hoon Choi, Young Wook Kwon, Gabin Moon, Michael Eisenhut, Andreas Kronbichler, Jae Il Shin
Systemic lupus erythematosus (SLE) is a multi-systemic severe autoimmune disease which results from the irreversible loss of self-tolerance and impaired molecular responses, especially an altered interferon signature. We synthesized all meta-analyses reporting a genetic association of SLE, and further investigated their validity to discover false positive results under Bayesian methods. We executed a PubMed search to extract the respective results regarding gene polymorphisms of SLE, published until June 30th 2017 and selected a single result per genetic variant among duplicates. Among 133 significant genotype comparisons, 45 (34%) were found noteworthy under both false positive report probability (FPRP) and Bayesian false discovery probability (BFDP). From the meta-analysis of genome-wide association studies (GWAS), we could confirm that all significant comparisons were noteworthy under both Bayesian approaches. Both approaches may be advantageous for determining whether the reported associations is genuine, especially for interpreting results from observational studies instead of GWAS whose significance was determined in a more strict manner. When determining results from GWAS with a p-value ranging between 0.05 and 5 × 10⁻⁸, other statistical approaches, rather than single standard significance may be beneficial. Taking into account these considerations, a proportion of meta-analyses claimed statistical significance, but these results need to be interpreted with caution.



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Should rheumatoid factor (RF) (and antinuclear antibodies (ANA)) become routinary screening test for morbidities in the general population?

Publication date: Available online 8 April 2018
Source:Autoimmunity Reviews
Author(s): Gianfranco Ferraccioli, Stefano Alivernini, Barbara Tolusso, Elisa Gremese




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Three-dimensional evaluation of mandibular asymmetry: a new classification and three-dimensional cephalometric analysis

Mandibular asymmetry is common among orthognathic patients and exhibits great variation. The aim of this study was to propose a new classification of mandibular asymmetry by anatomical regions; namely R (ramus), B (mandibular body) and C (chin), in conjunction with a corresponding 'RBC' three-dimensional (3D) cephalometric analysis. The cone beam computed tomography data of 65 patients with mandibular asymmetry was retrieved to perform the RBC 3D cephalometric analysis and to investigate the characteristics of mandibular asymmetry.

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Endoscope-assisted nasal dermoid excision with an open rhinoplasty approach

Publication date: June 2018
Source:International Journal of Pediatric Otorhinolaryngology, Volume 109
Author(s): Devon M. Livingstone, James Brookes, Warren K. Yunker
Congenital midline nasal masses have been traditionally excised through rhinotomies and bicoronal incisions. These approaches are disfiguring and potentially morbid, leading pediatric otolaryngologists to seek out less invasive, endoscopic-assisted approaches. Here we present a nasal dermoid excised with a minimally invasive, endoscopic assisted open rhinoplasty approach. The preoperative workup as well as perioperative steps for excision are documented, with the hope that this will assist other practitioners with this approach. An endoscopic open rhinoplasty technique affords excellent visualisation, with a superior cosmetic outcome. A preoperative MRI is essential to ensure the lesion is amenable to this approach.



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What you should not miss from the systematic reviews and meta-analyses on allergen-specific immunotherapy in 2017

Purpose of review Allergen immunotherapy (AIT) is a well recognized and extensively studied therapeutic intervention for some allergic diseases. Every year new systematic reviews and meta-analysis provide the most powerful source of evidence to orient decision making on prevention or efficacy of AIT. We here discuss systematic reviews and meta-analyses on AIT (published January 2017 to February 2018). Recent findings We identified 4 systematic reviews and 10 meta-analyses. Subcutaneous and sublingual AIT (SCIT/SLIT) significantly reduced the development of asthma in children–adolescents with moderate/severe allergic rhinitis, but evidence for a short-term, preventive effect for new allergic sensitizations was nonconclusive. SCIT/SLIT proved to significantly improve symptom and medication scores versus placebo or active comparators in respiratory allergy, with various effect sizes. Oral immunotherapy for IgE-mediated food allergy resulted in substantial benefit in desensitization rates. Data on venom AIT and latex AIT, although limited in quantity and quality, respectively, suggest a large and discrete beneficial effect. Summary Although current evidence extracted from meta-analyses and systematic reviews support AIT as an effective, relatively safe, and well tolerated alternative for some allergic diseases, heterogeneity and some methodological inconsistencies represent matters of concern as they may affect the validity and applicability of their results, especially in the context of individual, real-life settings. Correspondence to Désirée Larenas-Linnemann, MD, Hospital Medica Sur, Torre 2-602, Colonia Toriello-Guerra, Delegación Tlalpan, 14050 Mexico city, Mexico. Tel: +52 1 55 85095950; fax: +52 55 51712248; e-mail: marlar1@prodigy.net.mx Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

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How to actively treat food allergy

Purpose of review In the last years, food allergy treatment is moving away from food avoidance to interventional treatments. We review here the recent developments on immunotherapy with food allergens. Recent findings Oral immunotherapy remains the best studied form of food immunotherapy. In 2017, further evidence has been added to its efficacy. Its mechanisms of action are under scrutiny. To reduce its side effects, studies have been dedicated to the simultaneous use of biologics, in particular omalizumab. Among the other forms of food immunotherapy that are being developed, the epicutaneous application of food allergens is promising. Summary The immunologic trajectories of the development of food tolerance may be intercepted by different forms of food immunotherapy. Research efforts aim to make these therapies feasible at the clinical level. Correspondence to Valentina Pecora, MD, PhD, Allergy Department, Pediatric Hospital Bambino Gesù – Piazza di Sant'Onofrio 4, Vatican City, Rome 00100, Italy. Tel: +39 46 6859 4777; fax: +39 46 6859 2020; e-mail: valentina.pecora@opbg.net Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

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How to manage food dependent exercise induced anaphylaxis (FDEIA)

Purpose of review In recent years, the number of reports on food-dependent exercise-induced anaphylaxis (FDEIA) has been increasing. This review aims to describe the standard management of FDEIA including provocation tests and identify the issues that remain unclear. Recent findings Provocation tests with aspirin for FDEIA enable us to confirm the definitive diagnosis and to make differential diagnosis. In some cases, FDEIA symptoms can be induced by aspirin and the causative food without exercise. Exercise may only be an augmenting factor of FDEIA, similar to aspirin or alcohol. Summary The mechanisms of FDEIA development remain unclear. It has been suggested that in FDEIA, exercise lowers the threshold of a food allergy. Further research is needed to elucidate the mechanism of FDEIA and to establish strategies for effective disease management. Correspondence to Tomoyuki Asaumi, Department of Pediatrics, Sagamihara National Hospital, 18-1, Sakuradai, Minami-ku, Sagamihara, Kanagawa 252-0392, Japan. Tel: +81 42 742 8311; fax: +81 42 742 5314; e-mail: ocean19oranges@yahoo.co.jp Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

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