Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder that can be associated with severe complications, and it may shorten patients' lifespan and affect their quality of life negatively. This study aimed to examine quality of life constructs among adults with NF1 in Brazil. It is an exploratory, descriptive and cross-sectional study consisting of two stages, involving thirteen adult patients with NF1. The first stage was developed using a quantitative methodology, namely the WHOQOL-100 questionnaire; responses for the 13 patients were compared to a matched control group. The second stage comprised clinical-qualitative research whereby participants took part in a semi-structured interview; these data were analyzed using the categorical thematic analysis technique. There were no statistically significant differences in the questionnaire domains between the NF1 patients and the control subjects. Eighteen main themes were extracted from the interviews, showing interference of the NF1 visibility principally in psychological aspects and social relationships. Patients mentioned curiosity about NF1 and confusion about the distinctions between NF1 and contagious diseases, which lead to prejudice. They were concerned about the future and how the disease would develop in themselves and their offspring, and emphasized difficulties acquiring proper healthcare. These findings may help in planning healthcare for Brazilian NF1 patients and improving their quality of life.

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Gnathostomiasis is a parasitic zoonosis caused by the helminth Gnathostoma spp., acquired through the consumption of raw or undercooked contaminated aquatic animals.The disease is endemic in Southeast Asia and Central America. Two male patients, both middle-aged, presented with single itchy erythemato-edematous plaques on the anterior thorax and left flank. Both had consumed raw fish in the Amazon region. The clinical and epidemiological examinations suggested gnathostomiasis, and treatment with albendazole caused total regression of the lesions. Health teams should be familiar with the disease to provide correct diagnosis. The control strategy should be based on health education for the population.

This study aimed to adapt the Impact of Neurofibromatosis Type 1 on Quality of Life (INF1-QoL) questionnaire to Brazilian Portuguese and assess its psychometric properties. The INF1-QoL was adapted using a translation-back-translation method, and a pretest was conducted with 101 adults with NF1. Cronbach's alpha revealed that the INF1-QoL questionnaire was reliable (0.801). An exploratory factor analysis uncovered two latent factors, which explained 49% of the variance in the results. The factor structure provided adequate composite reliability indices, replicability estimates, and goodness-of-fit indices. The INF1-QoL questionnaire was translated, adapted, and validated in the Brazilian context. It is a useful patient-reported outcome measure for NF1 providers in Brazil.