Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no between-group difference at baseline, a delta of ≥ ± 20% was considered clinically relevant. The following clinically relevant differences were identified in group B in T2: lower rates of mortality and reported hospitalization for respiratory infection; lower frequency of hepatosplenomegaly; increased reported rates of obstructive sleep apnea syndrome and hearing loss; and stabilization of gibbus deformity. These changes could be due to the effect of ERT or of other therapies which have also been found more frequently in group B. Our findings suggest MPS I patients on ERT also receive a better overall care. ERT may have a positive effect on respiratory morbidity and overall mortality in patients with MPS I. Additional studies focusing on these outcomes and on other therapies should be performed.

Karyotypic evolution of ribosomal sites in buffalo subspecies and their crossbreed

Domestic buffaloes are divided into two group based on cytogenetic characteristics and habitats: the “river buffaloes” with 2n = 50 and the “swamp buffaloes”, 2n = 48. Nevertheless, their hybrids are viable, fertile and identified by a 2n = 49. In order to have a better characterization of these different cytotypes of buffaloes, and considering that NOR-bearing chromosomes are involved in the rearrangements responsible for the karyotypic differences, we applied silver staining (Ag-NOR) and performed fluorescent in situ hybridization (FISH) experiments using 18S rDNA as probe. Metaphases were obtained through blood lymphocyte culture of 21 individuals, including river, swamp and hybrid cytotypes. Ag-NOR staining revealed active NORs on six chromosome pairs (3p, 4p, 6, 21, 23, 24) in the river buffaloes, whereas the swamp buffaloes presented only five NOR-bearing pairs (4p, 6, 20, 22, 23). The F1 crossbreed had 11 chromosomes with active NORs, indicating expression of both parental chromosomes. FISH analysis confirmed the numerical divergence identified with Ag-NOR. This result is explained by the loss of the NOR located on chromosome 4p in the river buffalo, which is involved in the tandem fusion with chromosome 9 in this subspecies. A comparison with the ancestral cattle karyotype suggests that the NOR found on the 3p of the river buffalo may have originated from a duplication of ribosomal genes, resulting in the formation of new NOR sites in this subspecies.

Genetic identification of bucktooth parrotfish Sparisoma radians (Valenciennes, 1840) (Labridae, Scarinae) by chromosomal and molecular markers

Parrotfishes (Labridae, Scarinae) comprise a large marine fish group of difficult identification, particularly during juvenile phase when the typical morphology and coloration of adults are absent. Therefore, the goal of this study was to test cytogenetic markers and DNA barcoding in the identification of bucktooth parrtotfish Sparisoma radians from the northeastern coast of Brazil. Sequencing of cytochrome c oxidase subunit I (COI) confirmed all studied samples as S. radians, and all showed high similarity (99-100%) with Caribbean populations. The karyotype of this species was divergent from most marine Perciformes, being composed of 2n = 46 chromosomes. These consisted of a large number of metacentric and submetacentric pairs with small amounts of heterochromatin and GC-rich single nucleolar organizer regions (NORs) not syntenic to 5S rDNA clusters. These are the first data about DNA barcoding in parrotfish from the Brazilian province and the first refined chromosomal analysis in Scarinae, providing useful data to a reliable genetic identification of S. radians.

Chromosomal diversity in three species of electric fish (Apteronotidae, Gymnotiformes) from the Amazon Basin

Cytogenetic studies were carried out on samples of Parapteronotus hasemani, Sternarchogiton preto and Sternarchorhamphus muelleri (Apteronotidae, Gymnotiformes) from the Amazon basin. The first two species exhibited both a 2n = 52 karyotype, but differed in their karyotypic formulae, distribution of constitutive heterochromatin, and chromosomal location of the NOR. The third species, Sternarchorhamphus muelleri, was found to have a 2n = 32 karyotype. In all three species the DAPI and chromomycin A3 staining results were consistent with the C-banding results and nucleolar organizer region (NOR) localization. The 18S rDNA probe confirmed that there was only one pair of ribosomal DNA cistron bearers per species. The telomeric probe did not reveal interstitial telomeric sequences (ITS). The karyotypic differences among these species can be used for taxonomic identification. These data will be useful in future studies of these fishes and help understanding the phylogenetic relationships and chromosomal evolution of the Apteronotidae.

Cytogenetics of the Brazilian Bolitoglossa paraensis (Unterstein, 1930) salamanders (Caudata, Plethodontidae)

Plethodontid salamanders of genus Bolitoglossa constitute the largest and most diverse group of salamanders, including around 20% of living caudate species. Recent studies have indicated the occurrence of five recognized species in the Brazilian Amazon Rainforest. We present here the first cytogenetic data of a Brazilian salamander, which may prove to be a useful by contribution to the cytotaxonomy of the genus. Specimens were collected near the “type” locality (Utinga, Belém, PA, Brazil). Chromosomal preparations from duodenal epithelial cells and testes were subjected to Giemsa staining, C-banding and DAPI/CMA₃ fluorochrome staining. All specimens showed a karyotype with 13 bi-armed chromosome pairs (2n = 26). Nucleolar Organizer Regions, evidenced by CMA₃, were located distally on the long arm of pair 7 (7q). DAPI₊ heterochromatin was predominantly centromeric, with some small pericentromeric bands. Although the C-banding patterns of other Bolitoglossa species are so far unknown, cytogenetic studies conducted in other Plethodontid salamanders have demonstrated that pericentromeric heterochromatin is a useful cytological marker for identifying interspecific homeologies. Species diversification is usually accompanied by chromosomal changes. Therefore, the cytogenetic characterization of Bolitoglossa populations from the middle and western Brazilian Amazon Basin could identify differences which may lead to the identification of new species.

Prevalence of hereditary risk factors for thrombophilia in Belém, Brazilian Amazon

Different risk factors for venous thromboembolism (VTE) have been identified, including hereditary abnormalities in the mechanisms of coagulation and fibrinolysis. We investigated five genetic polymorphisms (FVL G1691A, FII G20210A, MTHFR C677T, TAFI A152G and TAFI T1053C) associated with VTE in individuals from the city of Belém in the Brazilian Amazon who had no history of VTE. No significant difference was found between the observed and expected genotype frequencies for the loci analyzed. We found high frequencies of MTHFR C677T (33.9%) and TAFI T1053C (74%) and low frequencies of FVL (1.6%), FII G20210A (0.8%) and TAFI A152G (0.8%). The FVL G1691A, FII G20210A and MTHFR C677T frequencies were similar to those for European populations and populations of European descent living in the city of Ribeirão Preto in the Brazilian state of São Paulo. The frequency of the two TAFI mutations in the Belém individuals was not significantly different from that described for individuals from Ribeirão Preto. We suggest that the risks for VTE in the population of Belém are of the same magnitude as that observed in European populations and in populations with an expressive European contribution.

Intervention in autism: social engagement implemented by caregivers

Envolver-se em estados de engajamento social com seus cuidadores é um déficit central de crianças com autismo. Este estudo verificou a efetividade de uma intervenção com cuidadores para a promoção de engajamento social em suas crianças com autismo. As interações de sete díades foram filmadas antes, durante e após a intervenção para registro da duração de onze estados de engajamento da atenção infantil, categorizados como social (ES) ou não social (ENS). Oito horas de intervenção foram divididas em encontros grupais e em monitoramentos individuais. Após a intervenção foram observadas diferenças significativas no aumento de ES e na diminuição de ENS e esses ganhos foram mantidos na avaliação de seguimento. O aumento em ES estava positivamente associado ao grau de adesão das cuidadoras ao tratamento. Concluímos que intervenções de curta duração podem capacitar cuidadores como mediadores competentes para aumentar engajamentos sociais.

Dialogic reading of a novel for children: effects on text comprehension

Estudos experimentais têm demonstrado efeitos positivos da leitura dialógica de livros ilustrados (leitura em voz alta intercalada com prompts e feedback para verbalizações por parte do ouvinte) sobre o vocabulário e a expressão verbal de crianças pequenas. Este estudo verificou o efeito da leitura dialógica sobre a compreensão textual de um romance infanto-juvenil por três crianças de 7-8 anos, utilizando um delineamento de sujeito único. Na Condição A, o texto era lido sem intervenções. Na Condição B, a leitura era intercalada com intervenções dialógicas baseadas nas funções narrativas presentes no texto. As medidas de compreensão mostraram um desempenho superior na Condição B para os dois participantes submetidos ao delineamento B-A-B, mas não para o participante submetido ao delineamento A-B-A. São discutidas possíveis interações da leitura dialógica com características do gênero textual e a necessidade de replicações sistemáticas com um maior número de sessões e reversões das condições.

Graduate and undergraduate studies: neighbors without affinity?

O texto apresenta dois conjuntos de informações de interesse histórico para a Psicologia: sobre o contexto no qual foi regulamentada a profi ssão de psicólogo e sobre a formação em nível de pós-graduação. Tais informações são utilizadas para discutir a dificuldade de promover articulação de fato entre a formação em nível de graduação e a pós-graduação. Trata-se de dificuldade especialmente curiosa, pois desde a fase inicial da organização da pós-graduação brasileira, a necessidade de considerar sua integração com a formação em nível de graduação foi sempre ressaltada. Ainda assim, persistem dificuldades relativas à essa integração. Algumas proposições de atividades que podem ensejar articulações entre os diferentes níveis de formação são apresentadas para o debate, tanto na esfera do ensino e da orientação como no âmbito da pesquisa, havendo menção, também, a atividades correlatas que podem servir ao mesmo objetivo.

Ambiente de moradia e controle primário em idosos

Este trabalho investigou a relação entre ambiente de moradia e duas modalidades de controle percebido controle primário (CP) e controle secundário (CS), referentes a esforços empreendidos para adaptar o ambiente às próprias necessidades e realizar metas (CP); adaptar-se ao ambiente (CS). Participaram 315 idosos (105 homens; 210 mulheres) residentes em Brasília-DF, entre 60 e 92 anos, selecionados de forma não-probabilística, por cotas de gênero. Os dados foram coletados no domicílio por meio de entrevista incluindo questões sócio-demográficas e uma escala de controle. Os resultados apontam: (1) Relação inversa entre CP e densidade social do ambiente de moradia - DESAM (r = -0,119; p ≤ 0,05); (2) Percepção de controle significativamente maior nos que dispunham de quarto exclusivo (t = 2,21; df = 313; p ≤ 0,05). Conclui-se que baixa DESAM facilita o CP nessa fase da vida em que muitas atividades são realizadas no domicílio, convertendo a liberdade de ação e a privacidade em necessidades importantes.