Estimate and needs of the transgender adult population: the SPoT study.

BACKGROUND: Despite the increasing interest in transgender health research, to date little is known about the size of the transgender and gender diverse (TGD) population. METHODS: A web-based questionnaire survey was developed, including a collection of socio-demographic characteristics and disseminated online through social media. Gender incongruence was evaluated by using a 2-item approach assessing gender recorded at birth and gender identity. The primary objective of the present population-based study was to estimate the proportion of TGD people across ages among a large sample of people who answered a web-based survey. The secondary endpoints were to identify gender-affirming needs and possible barriers to healthcare access. RESULTS: A total of 19,572 individuals participated in the survey, of whom 7.7% reported a gender identity different from the sex recorded at birth. A significantly higher proportion of TGD people was observed in the youngest group of participants compared with older ones. Among TGD people who participated in the study, 58.4% were nonbinary, and 49.1% experienced discrimination in accessing health care services. Nonbinary TGD participants reported both the need for legal name and gender change, along with hormonal and surgical interventions less frequently compared to binary persons. CONCLUSIONS: Being TGD is not a marginal condition In Italy. A large proportion of TGD persons may not need medical and surgical treatments. TGD people often experience barriers to healthcare access relating to gender identity.

Apparent autistic traits in transgender people: a prospective study of the impact of gender-affirming hormonal treatment.

PURPOSE: We evaluated differences in Autism Spectrum Quotient (AQ) scores between a sample of hormone-naïve transgender and cisgender people and the impact of gender-affirming hormonal treatment (GAHT) on AQ scores across time. Furthermore, we assessed alexithymia and social anxiety as possible mediators of changes in AQ scores. METHODS: A cross-sectional comparison between cisgender and transgender people before GAHT and a prospective study on the effects of GAHT over time were performed. Transgender and cisgender people completed several psychometric tests. A total sample of 789 persons (n = 229 cismen; n = 172 ciswomen; n = 206 transmen; n = 182 transwomen) referring to the Florence and Rome Gender Clinics between 2018 and 2020 was enrolled. Of these, 62 participants referring to the Florence Gender Clinic were evaluated in a prospective study at baseline and 12 months after GAHT. RESULTS: Groups showed significant differences in terms of autistic traits: ciswomen showed lower scores of AQ, while cismen reported higher scores of AQ than all other groups. Transgender individuals showed significant higher levels of Gender Dysphoria (GD), body uneasiness, alexithymia and social anxiety, compared to cisgender ones. No significant differences in general psychopathology were found between groups. Across time, transmen and transwomen showed a significant reduction in AQ scores. The decrease in alexithymia and social anxiety after GAHT did not predict the change in AQ scores. CONCLUSIONS: The autistic traits in our sample may represent an epiphenomenon of GD rather than being part of an Autism Spectrum Disorder (ASD) condition, since they significantly decreased after 12 months of GAHT.

5α-Reductase-2 deficiency: is gender assignment recommended in infancy? Two case-reports and review of the literature.

PURPOSE: Gender assignment represents one of the most controversial aspects of the clinical management of individuals with Differences of Sex Development, including 5α-Reductase-2 deficiency (SRD5A2). Given the predominant female appearance of external genitalia in individuals with SRD5A2 deficiency, most of them were assigned to the female sex at birth. However, in the last years the high rate of gender role shift from female to male led to recommend a male gender assignment. METHODS: We here describe two cases of subjects with SRD5A2 deficiency assigned as females at birth, reporting their clinical histories and psychometric evaluations (Body Uneasiness Test, Utrecht Gender Dysphoria Scale, Bem Sex-Role Inventory, Female Sexual Distress Scale Revised, visual analogue scale for gender identity and sexual orientation) performed at the time of referral at the Florence Gender Clinic. RESULTS: Both patients underwent early surgical interventions without being included in the decision-making process. They had to conform to a binary feminine gender role because of social/familiar pressure, with a significant impact on their psychological well-being. Psychometric evaluations identified clinically significant body uneasiness and gender incongruence in both subjects. No sexually related distress and undifferentiated gender role resulted in the first subject and sexually related distress and androgynous gender role resulted in the second subject. CONCLUSIONS: The reported cases suggest the possibility to consider a new approach for gender assignment in these individuals, involving them directly in the decision-making process and allowing them to explore their gender identity, also with the help of GnRH analogues to delay pubertal modifications.

Inhibition of energy metabolism down-regulates the Alzheimer related presenilin 2 gene.

Defects in energy metabolism and oxidative stress play an important role in the pathogenesis of Alzheimer's Disease (AD). In sporadic AD cases, presenilin 2 (PS2) mRNA levels are decreased in brain areas affected by the disease. The aim of the present study was to investigate whether mitochondrial dysfunction might influence PS2 gene expression. We demonstrated that the inhibition of energy metabolism by sodium azide down-regulates PS2 gene expression through modification of promoter activity. No one of the analyzed transcription factors, sensitive to redox status of the cell, could explain this effect. Azide effect on PS2 expression was completely inhibited by the addition of an antioxidant suggesting that the imbalance of the cellular redox homeostasis modulates the expression of this gene.

BACE-2 is overexpressed in Down's syndrome.

Brain deposition of the amyloid-beta protein (Abeta) is a frequent complication of Down's syndrome (DS) patients. Abeta peptide is generated by endoproteolytic processing of Abeta precursor protein by gamma and beta secretases. Recently a transmembrane aspartyl protease, BACE, has been identified as the beta-secretase, and its homologous BACE-2 has also been described. BACE-2 gene resides on chromosome 21 in the obligate DS region. It cleaves Abeta precursor protein at its beta site and more efficiently at a different site within Abeta. In the present study we characterized the BACE-2 gene and protein expression in the DS patients and healthy control. We analyzed, by using a nonradioactive ribonuclease protection assay, the levels of BACE-2 mRNA expression in primary skin fibroblasts. The analysis revealed a 2.6-fold increase in BACE-2 mRNA levels in the DS group compared to the levels observed in the control group. Western blot analysis revealed no difference between DS and control in BACE-2 protein levels in the intracellular compartment. In the medium conditioned by fibroblast, we revealed an evident secretion of BACE-2 protein, represented by two different molecular weights, remarkably increased in DS fibroblasts. BACE-2 overexpression was also confirmed in the DS fetal brains and human neural embryonic DS stem cells in which conditioned media BACE-2 was secreted. These data highlight the importance of the extracellular compartment where BACE-2 overexpression could play a role in plaque formation in DS patients.

Detection of the presenilin 1 COOH-terminal fragment in the extracellular compartment: a release enhanced by apoptosis.

Mutations in gene encoding presenilin 1 (PS1) are responsible for the majority of familial Alzheimer's disease (FAD) cases. We studied PS1 localization in HEK293 cells and in primary neurons obtained from rat cortex and hippocampus. We first demonstrated that PS1-CTF, but neither PS1-FL nor PS1-NTF, is released into the medium as a soluble and membrane-associated form. After induction of apoptosis with staurosporine (Sts), we observed a dramatic increase in the level of PS1-CTF in the medium, both in HEK293 and in primary neurons. Immunocytochemical analysis suggested that the release of PS1-CTF might occur via membrane shedding. Abeta(1-42) treatment reduced PS1-CTF extracellular levels. This decrease was strongly associated to an impaired secretion of sAPP fragments, thus suggesting a role of PS1-CTF in the control of trafficking and generation of APP fragments.

Analysis of alpha-2-macroglobulin-2 allele as a risk factor in Alzheimer's disease.

A correlation between a 5-nucleotide deletion polymorphism in the A2M gene and an enhanced risk of developing Alzheimer's disease (AD) was reported. We studied this polymorphism in sporadic AD patients and patients with frontotemporal dementia (FTD) by using an electrophoretical separation of PCR products on a Metaphor gel. Our results did not show any significant difference between A2M-2 allelic frequency (p = 0.89) or genotype frequency (p = 0.97) in the two different clinical series and in control subjects. The frequencies were not significantly different after stratification by APOE epsilon4 status.

Encephalitis without meningitis due to sandfly fever virus serotype toscana.

The role of Toscana (TOS) virus in producing encephalitis without meningitis is uncertain. We studied 2 cases of TOS virus encephalitis without meningitis by means of nested polymerase chain reaction assay and DNA sequencing. Findings confirm that TOS virus may directly cause encephalitis and suggest the usefulness of DNA sequencing in investigating relationships between TOS virus molecular patterns and the spectrum of neurological involvement.

[The SSS syndrome. Description of a case and review of the literature]. / La sindrome SSSS. Descrizione di un caso e revisione della letteratura.

A 1-month-old infant with an extensive dermatitis with flaccid bullae, without mucous membrane involvement is described. Staphylococcus aureus was recovered from blood, conjunctiva, skin and nasopharynx. A classification of Staphylococcal Scalded Skin Syndrome (SSSS), as well as etiology and therapeutic modalities, is briefly discussed.

The incidence of Chlamydia trachomatis-induced infection in women suffering from cervicovaginitis.

The results of a research on Chlamydia T. (direct survey of both the antigen in the uterine cervix and plasmatic antibodies) in a group of subjects suffering for cervico-vaginitis are provided. The incidence of the Chlamydia infection (proved by either the presence of this bacterium or antibody positivity) is not different from the values reported in literature. Conversely, the presence of neither specific cytological or colposcopic patterns nor of priviledged comites at vaginal level could be demonstrated. Our data, however, confirm a greater incidence of this infection in women reporting early sexual life and a high number of partners. As for the relationship between Chlamydia and contraceptives a slightly higher incidence of positivity in the cervix of patients using oestro-progestinics was registered, whereas no significant difference was noted in the use of other contraceptives IUD included.

PIP: Physicians examined 173 sexually active, non pregnant women suffering from lower genitalia inflammation. They responded to questions pertaining to their past and recent obstetric/gynecological history, to their partner's possible urogenital inflammations, the age of 1st intercourse, number of partners, and contraceptive use. 27.2% of the patients tested positive using immunoenzymatic techniques for Chlamydia trachomatis (CT). No specific symptoms of CT were observed. A correlation exists between early sexual intercourse and a large number of partners and a greater incidence of CT infections. Almost 98% of all CT positive patients reported 1st sexual intercourse between 16 and 21 years. Antibody positivity ranged from 33% (1st intercourse before 15 years) to 24% (1st intercourse between 16-21 years) and decreased to 5.89% when 1st intercourse occurred 21 years. In addition, CT positive patients had many partners. A greater positivity in the cervix occurred in those using oral contraceptives, however. On the other hand, no positivity was noted for those who used IUDs. Those women who used several contraceptives, such as oral contraceptives, IUD, and barrier methods, had a higher incidence of CT positivity (53.2%) than other groups. Perhaps this is due to clinical cervicovaginitis symptoms prompting the women to change techniques. Specific colposcopy patterns and cytological alterations which some physicians believe indicate CT infections did not identify patients with Chlamydia. These data suggest that it is impossible to make a diagnosis based on symptoms, past sexual history, and contraceptive use. Therefore the data indicate that immunoenzymatic tests are needed.