Dissociation between skin test reactivity and anti-aeroallergen IgE: Determinants among urban Brazilian children.

BACKGROUND: The dissociation between specific IgE and skin prick test reactivity to aeroallergens, a common finding in populations living in low and middle-income countries, has important implications for the diagnosis and treatment of allergic diseases. Few studies have investigated the determinants of this dissociation. In the present study, we explored potential factors explaining this dissociation in children living in an urban area of Northeast Brazil, focusing in particular on factors associated with poor hygiene. METHODS: Of 1445 children from low income communities, investigated for risk factors of allergies, we studied 481 with specific IgE antibodies to any of Blomia tropicalis, Dermatophagoides pteronyssinus, Periplaneta americana and Blatella germanica allergens. Data on demographic, environmental and social exposures were collected by questionnaire; serum IgG and stool examinations were done to detect current or past infections with viral, bacterial, protozoan and intestinal helminth pathogens. We measured atopy by skin prick testing (SPT) and specific IgE (sIgE) to aerollergens in serum (by ImmunoCAP). SIgE reactivity to B. tropicalis extract depleted of carbohydrates was measured by an in-house ELISA. Total IgE was measured by in house capture ELISA. SNPs were typed using Illumina Omni 2.5. RESULTS: Negative skin prick tests in the presence of specific IgE antibodies were frequent. Factors independently associated with a reduced frequency of positive skin prick tests were large number of siblings, the presence of IgG to herpes simplex virus, Ascaris lumbricoides and Trichuris trichiura infections, living in neighborhoods with infrequent garbage collection, presence of rodents and cats in the household and sIgE reactivity to glycosylated B. tropicalis allergens. Also, SNP on IGHE (rs61737468) was negatively associated with SPT reactivity. CONCLUSIONS: A variety of factors were found to be associated with decreased frequency of SPT such as unhygienic living conditions, infections, total IgE, IgE response to glycosylated allergens and genetic polymorphisms, indicating that multiple mechanisms may be involved. Our data, showing that exposures to an unhygienic environment and childhood infections modulate immediate allergen skin test reactivity, provide support for the "hygiene hypothesis"

Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)

Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest. FAP ATTRV30M shows a wide variation in age at onset (AO) between clusters, families and generations. Portuguese patients also show remarkable AO differences between genders. Genes found to be associated with FAP ATTRV30M pathways may act as AO modifiers. Our aim was to further explore the role of APCS and RBP4 genes and to study for the first time the involvement of sex-linked genetic modifiers - AR and HSD17B1 genes - in AO variation in Portuguese families. We collected DNA from a sample of 318 patients, currently under follow-up. A total of 18 tagging SNPs from APCS, RBP4, AR and HSD17B1 and 5 additional SNPs from APCS and RBP4 previously studied were genotyped. To account for nonindependency of AO between members of the same family, we used generalized estimating equations (GEEs). We found that APCS and RBP4 were associated with late AO. In addition, rs11187545 of the RBP4 was associated with an early AO. For the AR, in the male group three SNPs were associated with an early AO, whereas in the female group four were associated with both an early and later AO. These results strengthened the role of APCS and RBP4 genes and revealed for the first time the contribution of AR genes as an AO modifier in both males and females. These findings may have important implications in genetic counseling and for new therapeutic strategies

Use of the mini-mental state examination in research on the elderly in Brazil: a systematic review

The Mini-Mental State Examination (MMSE) is the most widely used cognitive screening test around the world. In Brazil, different MMSE versions and many cut-off points have been used. A systematic review of papers indexed in Scielo was conducted in order to analyze use of the MMSE in Brazilian empirical studies with elderly people. To search for these texts, the complete name of the instrument and its abbreviation were used. A growth trend in the scientific production during the 1998 to 2013 period was observed. Eleven versions of the MMSE were identified and the Bertolucci et al. version was the most cited. Over half of the studies used schooling as the criteria to establish cut-off points. The studies were predominantly conducted using samples recruited from large cities in the Southeastern region and in the community. Despite the growing trend of research with the elderly using the MMSE, the psychometric properties of this scale of measurement have been the subject of little investigation. Despite the widespread use of the MMSE in Brazil, there is a lack of standardization and evidence of validity for this this scale of measurement.O Mini Exame do Estado Mental (MEEM) é o teste de rastreio cognitivo mais utilizado no mundo. No Brasil, diferentes versões e pontos de corte do MEEM têm sido usados. Para analisar seu uso em estudos empíricos brasileiros com idosos, efetuou-se uma revisão sistemática de artigos indexados na SciELO. Foram utilizados o nome completo do instrumento e sua abreviação para recuperar os textos. Observou-se uma tendência de crescimento da produção científica analisada, no período de 1998 a 2013. Foram mencionadas 11 versões do MEEM, destacando-se a de Bertolucci et al. Mais da metade das investigações fizeram uso da escolaridade como critério para estabelecer pontos de corte. Os estudos têm sido realizados predominantemente com amostras recrutadas em grandes cidades da região Sudeste e na comunidade. Não obstante a tendência de crescimento de pesquisas com idosos que utilizam o MEEM, as propriedades psicométricas dessa medida têm sido pouco investigadas. Apesar da ampla utilização do MEEM no Brasil, faltam padronização e evidências de validade para essa medida