Objectives: Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for ...mutations in the EFHC1 gene.
Materials and Methods: Twenty‐seven families (86 affected individuals, 52 women) with at least two affected members with JME were selected. DNA was isolated from peripheral blood lymphocytes by standard methods and each exon of the EFHC1 gene was amplified and sequenced using intronic primers.
Results: Two heterozygous mutations were identified in three unrelated families. One (R353 W) was a novel missense mutation, while the F229 L mutation was previously described (say which on of the two occurred in two families). Both mutations cosegregated with the disease. In a fourth family, the variant 545G→A (resulting in the amino acid substitution R182 H) cosegregated with JME.
Conclusions: The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME.
Joubert syndrome‐related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the ‘molar tooth sign’ (MTS). Recently, ...mutations in a novel ciliary gene, RPGRIP1L, have been shown to cause both JSRDs and Meckel–Gruber syndrome. We searched for RPGRIP1L mutations in 120 patients with proven MTS and phenotypes representative of all JSRD clinical subgroups. Two homozygous mutations, the previously reported p.T615P in exon 15 and the novel c.2268_2269delA in exon 16, were detected in 2 of 16 families with cerebello‐renal presentation (∼12%). Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello‐renal subgroup, while they overall represent a rare cause of JSRD (<2%).
Tocainide and related optically active chiral α-aminoanilides were synthesized and tested in vivo via the hot plate test to evaluate their central analgesic action. The aims of the study were to ...verify if a) the increase in lipophilicity, obtained by the introduction of an alkyl group on the steric center (3f − i), and the replacement of the CO group with the CS (10) group as well as the introduction of a methyl or ethyl group on the amidic nitrogen atom (8a − c) would produce an increase in central analgesic efficacy with respect to Tocainide; b) the 2,6-xylidide moiety is crucial for high analgesic activity (3b − e); c) the hydrogen atom bonded to the amidic nitrogen moiety is an essential pharmacophoric element for analgesic activity. Among all the synthesized compounds, 3f showed antinociceptive properties with a good enantioselective index.
The objective of this research is to characterize the elderly population attended at a Nutrition Clinic School and to relate anthropometric, socioeconomic, comorbidities, lifestyle and eating habits ...variables. Retrospective cross-sectional study with alysis of secondary data, carried out by surveying data contained in the medical records of non-institutionalized elderly attended at a Clinical School of Nutrition belonging to the State University of the Midwest, in the city of Guarapuava-PR. Sociodemographic, economic and health variables were collected. In addition, the food consumption of the population in question was analyzed using 24-hour recalls and compared with there commendations. A total of 122 elderly people with a mean age of 65.9 ± 5.3 years participated in the study. An association was found between overweight and the presence of chronic diseases (p<0.001) and education (p<0.001). Most (77.9%) of the elderly attended were classified as overweight, of which 83.2% had diabetes mellitus and/or arterial hypertension. Regarding food consumption, inadequate consumption of dietary fiber, sodium and calcium was found. It was verified that the majority of elderly people with excess weight had diabetes mellitus and/or arterial hypertension and had low levels of education. It was observed that the consumption of fibers, vitamin A and sodium were inadequate.
The aim of the present paper is to briefly review the changes occurring in the nucleus tractus solitarii and carotid body in response to hypoxic and hyperoxic injuries. Selective alterations of ...dendrites and Fos-immunoreactivity of neurons have been observed in the subnucleus gelatinosus of the nucleus tractus solitarii of adult subjects dying after hypoxic-ischaemic injury. The selective vulnerability of this portion of the nucleus tractus solitarii may be explained mainly with reference to the vascularization of medullary tegmentum. In the carotid body, chronic hypoxia and hyperoxia cause a series of morphological, cellular and biochemical changes which may play a major role during the first postnatal period and may have implications in the pathogenesis of Sudden Infant Death Syndrome. Intermittent hypoxia may cause hypersensitivity of the carotid body, possibly increasing the risk of unstable respiration. Conversely, hyperoxia exposure has been reported to cause hyposensitivity and reduction in volume of the carotid body, possibly leading to ineffective response.
The synthesis of 1-phenylpiperazines, linked in the α or β position of the tetralin moiety on the terminal part of the N-4 alkyl chain, and their radioligand binding affinities for 5-HT1A, 5-HT2A, ...D-1, D-2, α1, and α2 receptors along with SAR studies on the 5-HT1A receptor are reported. Several changes have been carried out on previous structures of type 2, by inserting the alkyl chain with variable length in the α or β position of the tetralin moiety and by changing the position of the methoxy group on the aromatic ring of the tetralin nucleus. The highest affinity (IC50 = 0.50 nM) and selectivity for the 5-HT1A receptor were showed by 1-phenylpiperazine 2a with a three-membered alkyl chain bearing a 5-methoxytetralin-1-yl ring in the ω position.
The synthesis of 1-phenylpiperazines, linked in the alpha or beta position of the tetralin moiety on the terminal part of the N-4 alkyl chain, and their radioligand binding affinities for 5-HT(1A), ...5-HT(2A), D-1, D-2, alpha1, and alpha2 receptors along with SAR studies on the 5-HT(1A) receptor are reported. Several changes have been carried out on previous structures of type 2, by inserting the alkyl chain with variable length in the alpha or beta position of the tetralin moiety and by changing the position of the methoxy group on the aromatic ring of the tetralin nucleus. The highest affinity (IC50 = 0.50 nM) and selectivity for the 5-HT(1A) receptor were showed by 1-phenylpiperazine 2a with a three-membered alkyl chain bearing a 5-methoxytetralin-1-yl ring in the omega position.
O presente artigo resulta de uma pesquisa realizada durante 2004, em um bairro popular de Salvador, com o objetivo de compreender os processos de significação da morte, apresentados por um grupo de ...crianças pré-escolares, que se encontravam em uma situação de vulnerabilidade social. O intuito primordial não foi descrever tais significados, mas compreender como o contexto vivenciado, intermediado pelas relações com pais e outros educadores, promoviam o surgimento de determinadas falas e comportamentos por parte das crianças. No contexto investigado, as crianças se encontravam expostas a mortes decorrentes de conflitos relacionados ao tráfico de drogas. Para atingir tal objetivo, foi desenvolvido um estudo exploratório, em uma creche, na qual entrevistamos doze crianças, nove dos seus responsáveis e quatro educadores. Os instrumentos foram adequados de acordo com cada um dos grupos. Como resultado do estudo, observamos que, apesar das crianças conviverem com situações de violência e morte, os pais encontram grandes dificuldades em abordarem o tema com as mesmas que não obstante trazem, principalmente para a escola, através da fala e das brincadeiras, as experiências vividas em sua comunidade.
This paper is the result of a research carried out in 2004, in a poor area of the city of Salvador. The objective was to understand the process of the meaning of death to a group of socially vulnerable preschool children. The study focused on the children's social network of parents and other educators in order to understand how these relationships gave a social basis to the construction of death meanings. In the social context of investigation, the children were frequently exposed to deaths caused by drug related conflicts. The research was carried out as an exploratory study, in a day care center with twelve children, nine of their caretakers and four teachers. The instruments were adapted to each group. As a result of this study, we observed that the parents had a hard time approaching the subject of violence and death with the children, although they lived in a context of violence and death. Nevertheless, these children would bring to school, through play and talk, their experiences of violence and death in their community.
O presente artigo resulta de uma pesquisa realizada durante 2004, em um bairro popular de Salvador, com o objetivo de compreender os processos de significação da morte, apresentados por um grupo de ...crianças pré-escolares, que se encontravam em uma situação de vulnerabilidade social. O intuito primordial não foi descrever tais significados, mas compreender como o contexto vivenciado, intermediado pelas relações com pais e outros educadores, promoviam o surgimento de determinadas falas e comportamentos por parte das crianças. No contexto investigado, as crianças se encontravam expostas a mortes decorrentes de conflitos relacionados ao tráfico de drogas. Para atingir tal objetivo, foi desenvolvido um estudo exploratório, em uma creche, na qual entrevistamos doze crianças, nove dos seus responsáveis e quatro educadores. Os instrumentos foram adequados de acordo com cada um dos grupos. Como resultado do estudo, observamos que, apesar das crianças conviverem com situações de violência e morte, os pais encontram grandes dificuldades em abordarem o tema com as mesmas que não obstante trazem, principalmente para a escola, através da fala e das brincadeiras, as experiências vividas em sua comunidade.This paper is the result of a research carried out in 2004, in a poor area of the city of Salvador. The objective was to understand the process of the meaning of death to a group of socially vulnerable preschool children. The study focused on the children's social network of parents and other educators in order to understand how these relationships gave a social basis to the construction of death meanings. In the social context of investigation, the children were frequently exposed to deaths caused by drug related conflicts. The research was carried out as an exploratory study, in a day care center with twelve children, nine of their caretakers and four teachers. The instruments were adapted to each group. As a result of this study, we observed that the parents had a hard time approaching the subject of violence and death with the children, although they lived in a context of violence and death. Nevertheless, these children would bring to school, through play and talk, their experiences of violence and death in their community.
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