RESUMO
Background: Gender euphoria (i.e., a positive feeling associated with one's gender identity, expression, or affirmation) is widely discussed among transgender and gender diverse (hereafter referred to as trans) individuals. However, as a construct, gender euphoria has never been formally measured and has rarely been empirically studied. Hence, this protocol paper illustrates our process for developing and validating a new tool to measure gender euphoria, known as the Gender Euphoria Scale (GES), for use with trans populations. Methods: Deductive methods including findings from previous research and a review of existing measures, together with inductive methods such as expert feedback and focus groups with trans individuals, were used to generate a preliminary item pool for the GES. Pilot testing with trans community members and mental health clinicians was then used to refine items and develop a preliminary scale. Trans participants involved in an ongoing longitudinal study (TRANSform) were invited to complete the scale alongside measures of personality and gender factors to assess validity. Participants were then invited to complete the scale two weeks after initial completion to assess the test-retest reliability of the scale. The next stage in the scale development process will be to examine the dimensionality of the GES using exploratory factor analytic techniques. The scale will then be assessed for internal consistency, temporal stability, discriminant validity, and convergent validity. Conclusion: This paper outlines the development and characterization of a novel tool to measure gender euphoria for the first time. The GES will facilitate research opportunities to better understand the nature of gender euphoria and its influences, and may be used clinically to examine relationships between gender euphoria and gender affirming interventions. Hence, we expect the GES to make a significant contribution to both research and clinical practice with trans communities.
RESUMO
SUMMARY: Birt-Hogg-Dubé (BHD) syndrome is a rare genetic pathology characterized by cutaneous fibrofolliculomas, pulmonary cysts and kidney tumours. Severe asthma is the most serious form of asthma that does not respond to standard treatments. We present the case of a 68 years-old male patient who had frequent respiratory tract infections, shortness of breath and decline in lung function, nasal polyposis and hypertrophy of the nasal turbinates, for this reason was treated as a severe asthmatic patient for several years with ICS + LABA and high doses of OCS. When we tried to reduce OCS the patient had worsening of the symptoms, we requested a HRTC scan that showed presence of several cysts spread ubiquitously. The patient had a family history of pneumothorax, for this reason we requested a genetic test that resulted in a heterozygous point mutation on exon 12 (c.1429 C > T) of FLCN gene. Despite the diagnosis of BHD syndrome, the patient's clinical condition kept on suggesting an underlying severe asthma and the blood tests we requested pointed out a high percentage of eosinophils, for this reason we opted for the administration of benralizumab that resulted in an excellent asthma control and increased quality of life.