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Purpose: Information on the general health of transgender and gender diverse (TGD) individuals continues to be lacking. To bridge this gap, the National Institute of Health in Italy together with the National Office against Racial Discriminations, clinical centres, and TGD organizations carried out a cross-sectional study to define the sociodemographic profile, health-related behaviours, and experiences of healthcare access in Italian TGD adult population., Methods: A national survey was conducted by Computer-Assisted Web Interviewing (CAWI) technique. Collected data were compared within the TGD subgroups and between TGD people and the Italian general population (IGP)., Results: TGD respondents were 959: 65% assigned female at birth (AFAB) and 35% assigned male at birth (AMAB). 91.8% and 8.2% were binary and non-binary TGD respondents, respectively. More than 20% of the TGD population reported to be unemployed with the highest rate detectable in AMAB and non-binary people. Cigarette smoking and binge drinking were higher in the TGD population compared with IGP (p < 0.05), affecting TGD subgroups differently. A significant lower percentage of AFAB TGD people reported having had screening for cervical and breast cancer in comparison with AFAB IGP (p < 0.0001, in both cases). Over 40% was the percentage of AFAB and non-binary TGD people accessing healthcare who felt discriminated against because of their gender identity., Conclusions: Our results are a first step towards a better understanding of the health needs of TGD people in Italy in order to plan the best policy choices for a more inclusive public health., (© 2024. The Author(s), under exclusive licence to Italian Society of Endocrinology (SIE).)

Transgender and gender-diverse (TGD) individuals continue to experience harassment and discrimination across various aspects of life, significantly impacting their physical and mental health. The scarcity of data on their general health, particularly regarding dietary habits, remains a challenge in developing effective healthcare strategies for this population. To address this gap, we analyzed selected dietary habits, physical activity (PA), and body mass index (BMI) among Italian TGD adults compared to the Italian general population (IGP). An online anonymous survey was conducted via the Computer Assisted Web Interviewing technique from June 2020 to June 2021. Participants were enrolled through clinical centers and TGD organizations. Data from 959 TGD adults were analyzed using chi-squared tests and logistic regression models. Key findings indicated that approximately 70% of TGD individuals consumed fewer servings of fruit and vegetables (FV) than recommended (five or more servings per day). Although red meat consumption was lower overall, a greater percentage of TGD individuals reported consuming more than three servings per week. Additionally, 58% of TGD participants indicated that they did not engage in any PA, compared to 36% of the IGP. Notably, significant differences in BMI were identified, with higher rates of overweight and obesity among TGD individuals assigned female at birth. These results underscore the urgent need for tailored nutritional guidelines and inclusive public health strategies to meet the specific health needs of the Italian TGD population. Expanding access to targeted interventions could contribute to improving overall well-being in this marginalized group.

Purpose: The Veterans Affairs Low-Vision Visual Functioning Questionnaire-48 is among the most validated tools to collect patient-reported outcomes in a low-vision population. We have aimed to conduct a pilot validation of the Italian version of the Veterans Affairs Low-Vision Visual Functioning Questionnaire-48., Methods: The Veterans Affairs Low-Vision Visual Functioning Questionnaire-48 was translated using a standardized procedure and then administered to consecutive low-vision patients attending rehabilitation services in three centers. Patients were interviewed by a trained psychologist regarding the individual items of the tool., Results: We included 131 patients with a mean visual acuity of 0.91 logMAR (standard deviation: 0.42 logMAR), mostly affected by age-related macular degeneration. The Veterans Affairs Low-Vision Visual Functioning Questionnaire-48 showed high internal consistency (Cronbach's alpha: 0.98) and good item-test and item-rest correlation (median: 0.73 and 0.71, respectively). Both the overall score and the subscale (reading, visual motor, mobility and visual information) scores significantly correlated with visual acuity, reading acuity and speed. Reading speed achieved the best absolute correlation with the Veterans Affairs Low-Vision Visual Functioning Questionnaire-48 scores (Spearman r: 0.39-0.49)., Conclusion: The Italian version of the Veterans Affairs Low-Vision Visual Functioning Questionnaire-48 is a valid tool to assess patients attending low-vision services. Revising a few items may further improve the tool.

Obese children have a great risk of hypertension and cardiovascular morbidity in adults. The insulin-like growth factor type II (IGF-II) regulates glucose homeostasis, cardiovascular functions, and lipid metabolism. IGF2 gene variants have shown a strong association with weight, body mass index (BMI), and metabolic profile in adults. We performed the molecular screening of two IGF2 polymorphisms (6815 A/T, 820 G/A), in 227 obese children to evaluate the potential association between IGF2 variants with either obesity or high blood pressure (assessed with a 24-h holter system) or both. A second cohort of age-, sex-, and BMI-matched children were enrolled to confirm any eventual association. We observed a significant association between the 6815 A/T IGF2 gene variant and high systolic blood pressure in obese children. Homozygote subjects for the T6815 allele showed, even in 24-h measurements, a higher risk to develop hypertension than those carrying the A6815 allele (OR = 3.7, 95% CI: 1.59-8.66). This result was confirmed in the second cohort (OR = 4.1, 95% CI: 1.41-6.50). Any statistically significant difference in terms of BMI between the genotype groups was observed. Our results suggest that IGF2 gene variants are involved in the blood pressure regulation in obese children.

Chronic Granulomatous Disease (CGD) is a rare inherited disorder in which phagocytes fail to produce antimicrobial superoxide because NADPH oxidase activity is absent. In about 65% of the cases, the disease is due to mutations affecting the X-linked CYBB gene, encoding the gp91(phox) subunit of NADPH oxidase. We investigated 34 CGD male patients by DHPLC and direct sequencing. A mutation was found in the CYBB gene of 33 patients and 9 of these were novel: one non-sense mutation (c.1123 G>T), three missense mutations (c.58G>A; c.1076 G>C; c.1357 T>A), two splice site mutations (c.141+5G>T; c.142-1G>A), one duplication (c.42&#95;45dupCATT), one deletion (c.184delT), and one rare deletion of two non-contiguous nucleotides (c.1287delT+c.1290delC). One patient had the most frequent GT homozygous deletion in exon2 of the NCF-1 gene encoding the p47(phox) subunit of NADPH oxidase. The carrier analysis was performed in 23 patients' mothers and 16 female relatives through molecular and FISH studies. No clear correlation between the severity of clinical symptoms and the type of mutation could be demonstrated. This study further supports the great heterogeneity of the disease and the notion that genetic analysis is a critical step in obtaining a definitive diagnosis for CGD.

In this study we analyzed the effect of the (TA)7 polymorphism of the UGT1A gene associated with Gilbert's syndrome in G6PD-deficient subjects during an acute hemolytic crisis (fabic crisis). DNA from 44 subjects originating from the same geographic area in Sardinia was analyzed for the UGT1A promoter polymorphism. The increase of unconjugated bilirubin level during fabic crisis and its relationship with UGT1A polymorphism was evaluated. The UGT1A (TA)7 TATA box variant was found in 9/44 (21%) of the G6PD deficient subjects examined. The median value for unit of increase of bilirubin (mg/dl)/unit of decrease of hemoglobin (g/dl) was higher in variant homozygous than in heterozygous and normal subjects. These findings imply a contribution of the UGT1A polymorphism associated to Gilbert's syndrome to development of the hyperbilirubinemia in G6PD deficient subjects during acute hemolytic anemia.