Immigrants' access to health care: Problems identified in a high-risk tuberculosis population.

INTRODUCTION: Immigrants may utilize health care services differently than other residents and may also have a greater risk for tuberculosis (TB). OBJECTIVE: Identify barriers to healthcare access by immigrants, factors associated with these barriers, and discuss strategies that may reduce these barriers. MATERIAL AND METHODS: Anonymous questionnaires were given to immigrants at National Immigrant Support Centres between 2015 and 2016. Barriers to healthcare were identified using logistic regression. RESULTS: One-hundred and nineteen questionnaires were administered to immigrants, 9 of whom (8%) presented with TB while in Portugal. Twenty-one percent of immigrants reported barriers to healthcare access, and 69% had general practitioners (GPs). The presence of barriers to healthcare access was negatively associated with having a GP and with being married or in a de facto union. CONCLUSIONS: A considerable proportion of immigrants reported having difficulties accessing healthcare services in Portugal where legally these barriers are nonexistent. Certain factors were associated with these difficulties.

Amygdalae and striatum calcification in lipoid proteinosis.

Lipoid proteinosis is a rare genodermatosis characterized by multisystem involvement due to intracellular deposition of an amorphous hyaline material. Lipoid proteinosis is caused by mutations in the ECM1 gene. In many patients, skin and mucosa abnormalities are the first manifestation. When the CNS is affected, a wide variety of neurologic abnormalities may be present. The hallmark findings are calcifications, mostly occurring in the amygdalae, hippocampus, parahippocampal gyrus, or even the striatum. Present in half of the patients, moniliform blepharosis is considered a pathognomonic finding. In the other half of patients imaging could assist in the diagnosis. The authors present a series of 3 cases of lipoid proteinosis with brief clinical data and imaging findings.

Increased risk for acute myeloid leukaemia in individuals with glutathione S-transferase mu 1 (GSTM1) and theta 1 (GSTT1) gene defects.

OBJECTIVES: Glutathione S-transferases (GST) modulate the effects of exposure to various cytotoxic and genotoxic agents, including those associated with increased risks of the myelodysplastic syndrome (MDS), acute myeloid leukaemia (AML) and aplastic anemia (AA). Both the GST mu 1 (GSTM1) and GST theta 1 (GSTT1) genes have a null variant allele in which the entire gene is absent. In this study, we tested whether null genotypes for the GSTM1 and GSTT1 genes altered the risks for MDS, AML and AA. METHODS: Genomic DNA from 49 MDS, 38 AML and 37 AA patients and 276 controls was analysed using the polymerase chain reaction (PCR). RESULTS: The frequencies of GSTM1 (73.6%) and GSTT1 (34.2%) null genotypes were significantly higher in AML patients than in the controls (36.9 and 18.1%, respectively). A higher frequency of the combined null genotype for both genes was also observed in patients with AML (26.3% compared with 5.0% in the controls). In contrast, no differences in the frequencies of the null genotypes were found among MDS patients, AA patients and the controls. CONCLUSION: Our observation of a 4.7-fold (95% CI: 2.1-11.0) and 2.3-fold (95% CI: 1.0-5.2) increased risk associated with the GSTM1 and GSTT1 null genotypes, respectively, and a 6.6-fold (95% CI: 2.4-7.9) increased risk associated with the combined null genotype presents preliminary evidence that the inherited absence of this carcinogen detoxification pathway may be an important determinant of AML.

N-ras gene point mutations in Brazilian acute myelogenous leukemia patients correlate with a poor prognosis.

The frequency of ras gene mutations varies from 11 to 27% in AML populations from the United States and Europe but it seems that there is no study regarding the frequency of mutated N-ras gene in patients with AML in South America. In order to study the frequency of N-ras gene mutations (exons 1 and 2) in Brazilian patients with AML and to evaluate the possible correlation between the presence of the mutation and clinical features, 40 patients were analyzed. N-ras mutations were identified in DNA samples from eight of 40 AML patients (20%). No significant correlation was found between N-ras mutation and age, sex, race, response to therapy, FAB subtype or occupational exposure. However, the overall survival and AML-free survival were significantly shorter in patients with N-ras mutations than in those without these abnormalities.