Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).

The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil.

Active tuberculosis in inflammatory bowel disease patients under treatment from an endemic area in Latin America.

BACKGROUND: There has been an increase in cases of inflammatory bowel disease (IBD) in recent years. There is also greater access and availability of immunosuppressive and biological agents, which increase the risk of opportunistic infection despite improving the quality of life and promoting mucosal healing. Tuberculosis (TB) remains a public health problem, and it has a high incidence in several countries. Therefore, knowledge of the risk of developing TB in patients with IBD is important. AIM: To evaluate the risk of active TB in patients with IBD under treatment from an endemic area in Latin America. METHODS: A standard questionnaire included demographic variables, clinical aspects of IBD disease, history of active TB during treatment, active TB characteristics and evolution, initial screening and results and time from the start of anti-tumor necrosis factor alpha (TNFα) to TB development. RESULTS: Azathioprine, anti-TNFα and the combination of these two drugs were associated with a higher risk of active TB incidence. The TNFα blockers increased the relative risk of developing active TB compared to other treatments. All four multivariable models showed that the use of TNFα blockers alone or in combination with azathioprine was an important risk factor for the incidence of active TB. After adjustment for sex, age, type of IBD and latent TB, anti-TNFα with azathioprine increased the relative risk to 17.8 times more than conventional treatment. Late TB, which was diagnosed 3 mo after the start of anti-TNFα, was the most frequent. CONCLUSION: Treatment with anti-TNFα increased the risk of active TB in IBD patients from an endemic area in Latin America. This risk was increased when anti-TNFα was combined with azathioprine. The time from the beginning of the treatment to the active TB diagnosis suggests a new TB infection.

New Onset Diabetes and Non-Alcoholic Fatty Liver Disease after Liver Transplantation.

BACKGROUND & AIMS: Non-alcoholic fatty liver disease (NAFLD) is an emerging cause of graft dysfunction after liver transplantation (LT) frequently related to the development of new onset diabetes after LT (NODAT). This study was undertaken to evaluate the frequencies of NODAT and NAFLD after LT, to investigate their major risk factors and the impact of de novo or recurrent NAFLD in graft function. MATERIAL AND METHODS: 119 patients submitted to LT were prospectively evaluated. RESULTS: After 4 ± 1 years, NODAT, recurrent and de novo NAFLD were observed in 31%, 56% and 43% of the subjects, respectively. Only 3 patients had non-alcoholic steatohepatitis (NASH) without fibrosis. Other risk factors for NAFLD such as arterial hypertension (AHT), metabolic syndrome (MS), hypertriglyceridemia and obesity were seen in 51%, 50%, 35% and 24% of the subjects, respectively. In addition, insulin resistance (IR), assessed by HOMA-IR and ß-cell dysfunction, determined by HOMA-ß, were observed in 16% and 94% of the patients, respectively. Occurrence of NODAT was associated with male gender, higher waist circumference, higher HOMA-IR and lower HOMA-ß values. No correlation was found between NAFLD and NODAT, MS, hypertriglyceridemia, obesity and HOMAIR and HOMA-ß levels. CONCLUSIONS: NODAT, recurrent and de novo NAFLD are common after LT but are not associated with signs of graft dysfunction, possibly due to the low frequency of IR and NASH. No correlation is observed between NAFLD and NODAT, MS, hypertriglyceridemia, obesity and IR. ß-cell dysfunction and diabetes, however, are seen in most of the patients, possibly due to calcineurin inhibitor toxicity.