ABSTRACT
Introduction: Focal cortical dysplasia (FCD) is a common cause of pharmacoresistant epilepsy. According to the 2022 International League Against Epilepsy classification, FCD type II is characterized by dysmorphic neurons (IIa and IIb) and may be associated with balloon cells (IIb). We present a multicentric study to evaluate the transcriptomes of the gray and white matters of surgical FCD type II specimens. We aimed to contribute to pathophysiology and tissue characterization. Methods: We investigated FCD II (a and b) and control samples by performing RNA-sequencing followed by immunohistochemical validation employing digital analyses. Results: We found 342 and 399 transcripts differentially expressed in the gray matter of IIa and IIb lesions compared to controls, respectively. Cholesterol biosynthesis was among the main enriched cellular pathways in both IIa and IIb gray matter. Particularly, the genes HMGCS1, HMGCR, and SQLE were upregulated in both type II groups. We also found 12 differentially expressed genes when comparing transcriptomes of IIa and IIb lesions. Only 1 transcript (MTRNR2L12) was significantly upregulated in FCD IIa. The white matter in IIa and IIb lesions showed 2 and 24 transcripts differentially expressed, respectively, compared to controls. No enriched cellular pathways were detected. GPNMB, not previously described in FCD samples, was upregulated in IIb compared to IIa and control groups. Upregulations of cholesterol biosynthesis enzymes and GPNMB genes in FCD groups were immunohistochemically validated. Such enzymes were mainly detected in both dysmorphic and normal neurons, whereas GPNMB was observed only in balloon cells. Discussion: Overall, our study contributed to identifying cortical enrichment of cholesterol biosynthesis in FCD type II, which may correspond to a neuroprotective response to seizures. Moreover, specific analyses in either the gray or the white matter revealed upregulations of MTRNR2L12 and GPNMB, which might be potential neuropathological biomarkers of a cortex chronically exposed to seizures and of balloon cells, respectively.
ABSTRACT
A transexualidade trata da mudança dos indivíduos de seu sexo masculino ou feminino identificado no nascimento para viver em sociedade sob sua alternativa de identidade de gênero. Visando essa adequação são realizados procedimentos transexualizadores, no entanto, pouco se conhece sobre a função sexual e urinária após esses processos. Neste sentido, este estudo propôs avaliar as funções sexuais e miccionais de homens transexuais submetidos à terapia hormonal. Participaram do estudo 13 homens transexuais e foram utilizados os questionários: Escala de Desconforto Sexual Feminino (FSDS-R), Índice de função sexual feminina (FSFI), Teste de Três Perguntas sobre Incontinência (3IQ), Protection, Amount, Frequency, Adjustment, Bodyimage (PRAFAB). Foi utilizado o software Excel para entrada dos dados, confecção das tabelas e análise estatística descritiva. No FSDS-R, 10 (76,92%) dos homens trans apresentam-se desconfortáveis sexualmente. A pontuação média da FSFI foi de 14,8 pontos, sugerindo disfunção sexual. No teste de 3IQ, 25% relataram perder urinária, destes, 75% apresentam urgência miccional e 25% apresentam Incontinência Urinária (IU) por esforço. No score total do PRAFAB, 50% apresentaram IU leve e 50% obtiveram IU moderada. Portanto, a avaliação foi positiva para tendência a disfunções sexuais nesta população. No que concerne a função miccional, a minoria dos homens trans manifestaram alterações. (AU)
Transsexuality is about changing individuals of their male or female gender identified at birth to live in society under their alternative gender identity. Aiming at this adaptation, transsexualizing procedures are performed, however, little is known about the sexual and urinary function after these processes. In this sense, this study proposed to evaluate the sexual and urinary functions of transsexual men submitted to hormonal therapy. Thirteen transsexual men participated in the study and the questionnaires were used: Female Sexual Discomfort Scale (FSDS-R), Female Sexual Function Index (FSFI), Three Questions Incontinence Test (3IQ), Protection, Amount, Frequency, Adjustment, Body image (PRAFAB). Excel software was used for data entry, preparation of tables and descriptive statistical analysis. In FSDS-R, 10 (76.92%) of trans men are sexually uncomfortable. The average FSFI score was 14.8 points, suggesting sexual dysfunction. In the 3IQ test, 25% reported losing urine, of these, 75% had urinary urgency and 25% had urinary incontinence (UI) on exertion. In the total PRAFAB score, 50% had a mild UI and 50% had a moderate UI. Therefore, the assessment was positive for a tendency towards sexual dysfunction in this population. Regarding the voiding function, the minority of trans men showed changes. (AU)
