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Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes.

ABSTRACT: In the last two decades two new paradigms changed our way of perceiving primary immunodeficiencies: An increasing number of immune defects are more associated with inflammatory or autoimmune features rather than with infections. Some primary immune defects are due to hyperactive pathways that can be targeted by specific inhibitors, providing innovative precision treatments that can change the natural history of diseases. In this article we review some of these "druggable" inborn errors of immunity and describe how they can be suspected and diagnosed in diverse pediatric and adult medicine specialties. Since the availability of precision treatments can dramatically impact the course of these diseases, preventing the development of organ damage, it is crucial to widen the awareness of these conditions and to provide practical hints for a prompt detection and cure.

SUBMITTER: Boz V

PROVIDER: S-EPMC8985491 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature

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Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes.

Boz Valentina V Zanchi Chiara C Levantino Laura L Riccio Guglielmo G Tommasini Alberto A

World journal of clinical pediatrics 20220309 2

In the last two decades two new paradigms changed our way of perceiving primary immunodeficiencies: An increasing number of immune defects are more associated with inflammatory or autoimmune features rather than with infections. Some primary immune defects are due to hyperactive pathways that can be targeted by specific inhibitors, providing innovative precision treatments that can change the natural history of diseases. In this article we review some of these "druggable" inborn errors of immuni ...[more]

PMID: 35433297

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Project description:BACKGROUND:Sexual health problems are common. Therefore, training in sexual health is relevant for the clinical practice of trainees and early-career specialists in several specialties who deal with patients with sexual health problems. However, little is known about how sexual health training is provided across countries and specialties. AIM:To assess (i) sexual health training during postgraduate training programs in psychiatry, obstetrics and gynecology, urology, and endocrinology across Europe; (ii) the confidence of trainees and early-career specialists in dealing with patients with sexual health problems; and (iii) their need for further training in sexual health during postgraduate training programs. METHODS:The study was based on a collaboration among European societies of trainees in these 4 specialties. An online survey was developed and conducted from January 2015 through June 2016. MAIN OUTCOME MEASURES:Self-reported questionnaire. RESULTS:We collected 366 completed surveys from 40 countries. Sexual health training was considered an important or very important part of specialty training by 78.7% of participants. Overall, 62.3% of participants had not received any training in sexual health. Especially in obstetrics and gynecology, the large majority did not have training in sexual health (82.8%), followed by psychiatry (59.8%), urology (58.4%), and endocrinology (56.1%). There were statistically significant differences among specialties in the confidence of participants in managing patients with sexual health problems. In general, trainees and early-career specialists who had received sexual health training felt more confident in dealing with patients with gender dysphoria (P = .011), need for sexual therapy (P = .0004), paraphilic disorders (P = .0003), and sexual dysfunction (P = .0017). CONCLUSIONS:Trainees and early-career specialists found sexual health training important for their future medical practice; however, less than half received it during their postgraduate training. Participants felt more confident in managing patients with sexual health problems when sexual health training was included in the postgraduate training program. Kristufkova A, Pinto Da Costa M, Mintziori G, et al. Sexual Health During Postgraduate Training-European Survey Across Medical Specialties. Sex Med 2018;6:255-262.

Dataset Information

Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes.

Publications

Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes.

Similar Datasets

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