Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders

A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of “deficiencies” (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general. This prompted us to conduct a study of consanguinity levels in five of its municipal districts by directly interviewing their inhabitants. Information on 7,639 couples (corresponding to about 40% of the whole population of the studied districts) was obtained. The research disclosed the existence of very high frequencies of consanguineous marriages, which varied from about 9% to 32%, suggesting the presence of a direct association between genetic diseases such as the SPOAN syndrome, genetic drift and inbreeding levels. This fact calls for the introduction of educational programs for the local populations, as well as for further studies aiming to identify and characterize other genetic conditions. Epidemiological strategies developed to collect inbreeding data, with the collaboration of health systems available in the region, might be very successful in the prospecting of genetic disorders

Obesity and variants of the GHRL (ghrelin) and BCHE (butyrylcholinesterase) genes

Ghrelin coded by the GHRL gene is related to weight-gain, its deactivation possibly depending on its hydrolyzation by butyrylcholinesterase (BChE) encoded by the BCHE gene, an enzyme already associated with the body mass index (BMI). The aim was to search for relationships between SNPs of the GHRL and BCHE genes with BChE activity, BMI and obesity in 144 obese and 153 nonobese Euro-Brazilian male blood donors. In the obese individuals, a significant association with higher BChE activity, in the 72LM+72MM; –116GG genotype class (GHRL and BCHE genes, respectively) was noted. No significant differences were found otherwise, through comparisons between obese and control individuals, of genotype and allele frequencies in SNPs of the GHRL gene (Arg51Gln and Leu72Met), or mean BMI between 72LL and 72LM+72MM genotypes. Although there appears to be no direct relationship between the examined GHRL SNPs and BMI, the association of the 72M SNP with higher BChE activity in obese subjects probably points to a regulatory mechanism, thereby implying the influence of the GHRL gene on BChE expression, and a consequential metabolic role in the complex process of fat utilization

Molecular forms of butyrylcholinesterase and obesity

This study compared obese (N = 134) and unobese (N = 92) male blood donors, regarding the relative intensity (RI) and activity of different molecular forms (G1, G2, G4 and G1-ALB) of butyrylcholinesterase (BChE, EC 3.1.1.8) found in plasma, thereby searching for an association between these variables with obesity and SNPs of exons 1 and 4 of the BCHE gene. It was shown that obese and unobese individuals do not differ in the RI of each BChE band, even when classifying the sample into three genotypes of exons 1 and 4 of the BCHE gene (-116GG/539AA, -116GG/539AT, -116GA/539AT). Although the mean BChE activity of each band was significantly higher in obese than in unobese blood donors, the proportions of BChE bands were maintained, even under the metabolic stress associated to obesity, thereby leading to infer that this proportion is somehow regulated, and may therefore be important for BChE functions

Carbon footprint of apple and pear : orchards, storage and distribution

Apple and pear represent 51% of fresh fruit orchards in Portugal. This paper presents a life-cycle (LC) greenhouse gas (GHG) assessment (so-called carbon footprint) of 3 apple and 1 pear Portuguese production systems. An LC model and inventory were implemented, encompassing the farm stage (cultivation of fruit trees in orchards), storage and distribution (transport to retail). The functional unit considered in this study was 1 kg of distributed fruit (at retail). Four different LC inventories for orchards were implemented based on data collected from three farms. Inventory data from two storage companies were also gathered. The main results show that the GHG emissions of apple and pear ranged between 192 and 229 gCO2eq kgfruit-1. The GHG emissions (direct and indirect) from the cultivation phase ranged from 36% to 60% of total emissions. Fruit storage, which lasted for as much as 8-10 months, was also responsible for significant emissions due to high energy requirements

Base genética das cultivares brasileiras de feijão-caupi.

Numerosos estudos têm sido realizados para estimar a base genética das principais espécies cultivadas, tais como a soja, o trigo e o arroz. Esses estudos mostraram que a base genética das cultivares modernas é considerada muito estreita. Recomendou-se a sua ampliação para diminuir os riscos de vulnerabilidade genética e evitar os patamares de produtividade. O objetivo do trabalho foi avaliar a base genética das cultivares de feijão-caupi [Viqna unguiculata (L.) Walp.] no Brasil, mediante estudo das genealogias de 41 cultivares recomendadas entre 1969 e 2005. Apenas sete desses ancestrais contribuíram com 51% dos genes do germoplasma em uso. Esses são: TVu1190, Pitiuba, Bengala, Quebra-cadeira, CNC0434, TVu59 e TVu410. Um grupo de 17 ancestrais acumulou aproximadamente 81% dos genes em uso, revelando que a base genética do feijão-caupi brasileiro , apesar de estreita, é mais ampla que a do arroz, na qual, 11 ancestrais contribuíram com 81% dos genes. Entre os mais importantes ancestrais do feijão-caupi no Brasil, nove têm origem na Nigéria, seis no Brasil, um na Costa Rica e um nos Estados Unidos

Investigation of Association between Susceptibility to Leprosy and SNPs inside and near the BCHE Gene of Butyrylcholinesterase

Leprosy is a chronic disease caused by Mycobacterium leprae and affects the skin and the peripheral nervous system. Butyrylcholinesterase is coded by the BCHE gene, and the atypical allele (70G; rs1799807) has been investigated as a leprosy risk factor, with conflicting results. The present study estimated the frequencies of variants of rs1799807 and of five additional SNPs at the BCHE gene or near it: rs1126680, rs1803274, rs2863381, rs4440084, and rs4387996. A total of 167 patients and 150 healthy controls were genotyped by TaqMan PCR. Significantly higher allelic (70G) and genotypic (70DG) frequencies in rs1799807 were found in the patient group, with odds ratio (OR) of 6.33 (1.40 to 28.53) for the heterozygote. This finding was replicated in a comparison of the cases against a control group of 361 blood donors. The present data suggest that the atypical BChE variant may predispose to leprosy per se

Effect of scorpion toxin on the enterochromaffin-like cells in normal and Trypanosoma cruzi-infected rats: a morphological study

Intravenous injection of scorpion toxin (Tityus serrulatus) in normal and Trypanosoma cruzi infected rats did not cause ultrastructural morphologic changes on enterochromaffin-like (ECL) cells of the stomach, although it induced a significant increase of the gastric secretion. Our data seem to indicate that gastric ECL cells structure is not affected by stimulation with scorpion toxin or by acute infection with T. cruzi in the rat.A injeção intravenosa de toxina escorpiônica (Tityus serrulatus) em ratos normais e infectados pelo Trypanosoma cruzi não causou alterações morfológicas ultra-estruturáis das células enterocromaflns-like (ECL) do estómago, embora tenha induzido a aumento significativo da secreção do suco gástrico. Nossos resultados parecem indicar que a estrutura das células ECL do estómago de ratos não é afetada pela estimulação com a toxina escorpiônica ou pela infecção aguda pelo T. cruzi

Nanoindentation unidirectional sliding and lateral force microscopy: evaluation of experimental techniques to measure friction at the nanoscale

CNPQ - CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICOFAPERG - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DO RIO GRANDE DO SULFAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOLateral force microscopy (LFM) is an established technique to assess friction forces at the nanoscale. Nanoindentation followed by unidirectional sliding (NUS) is also used to evaluate friction forces at the micro/nanoscale. However, comparative studies between NUS and LFM evaluating the experimental results at different scales are still missing. In this work, a-C:D/H and a-C:H thin films with different [D]/[C] and [H]/[C] contents were used to analyze the friction forces by NUS and LFM. The results show that the friction behavior assessed by these two techniques in different scales is the same. The correlation between friction forces measured by NUS and LFM depends mainly on a contact area factor that makes invariant the friction force from nanoscale to microscale. Such behavior suggests a similar damping mechanism, probably phonon-coupling phenomena, for the friction force origin.812110CNPQ - CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICOFAPERG - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DO RIO GRANDE DO SULFAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOCNPQ - CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICOFAPERG - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DO RIO GRANDE DO SULFAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO465423/2014-0sem informação2012/10127-

Synthesis of TiO2/ZnO photoanodes on FTO conductive glass for photovoltaic applications

Abstract For oxide semiconductors for application in dye-sensitized solar cells (DSSCs), titanium dioxide conjugated with zinc oxide thin films was synthesized and characterized. The UV (ultraviolet) spectrum characterization showed a peak of absorbance at around 355 nm, with a band gap of 3.25 eV and reflectance around 85%. Such characteristics allowed the fabrication of DSSCs with N719 dye, under simulated light of 100 mW/cm2. The highest efficiency of 1.17% was at 5% titanium dioxide and 4 h of dye immersion

Cardiovascular abnormalities in patients with oral cleft: a clinical-electrocardiographic-echocardiographic study

OBJECTIVES: The present study aims to describe the clinical, electrocardiographic, and echocardiographic cardiological findings in a group of patients with oral clefts. METHODS: This is a prospective cross-sectional study on 70 children (age range from 13 days to 19 years) with oral clefts who attended the multidisciplinary program of a university hospital from March 2013 to September 2014. The patients were evaluated by a pediatric cardiologist and underwent detailed anamnesis, physical examination, electrocardiogram, and echocardiogram. RESULTS: Sixty percent of the patients were male; 55.7% presented with cleft lip and palate, and 40.0% presented with health complaints. Comorbidities were found in 44.3%. Relevant pregnancy, neonatal, family and personal antecedents were present in 55.7%, 27.1%, 67.2%, and 24.3% of the patients, respectively. Regarding the antecedents, 15.2% of the patients presented with a cardiac murmur, 49.0% with a familial risk of developing plurimetabolic syndrome, and 6% with family antecedents of rheumatic fever. Electrocardiographic evaluation showed one case of atrioventricular block. Echocardiograms were abnormal in 35.7% of the exams, including 5 cases of mitral valve prolapse — one of which was diagnosed with rheumatic heart disease. CONCLUSION: The finding of a family risk of developing plurimetabolic syndrome and a diagnosis of rheumatic heart disease indicates that patients with oral clefts may be more prone to developing acquired heart disease. Thus, our findings highlight the importance of anamnesis and methodological triangulation (clinical-electrocardiographic-echocardiographic) in the investigation of patients with oral clefts and emphasize that cardiological follow-up to evaluate acquired and/or rhythm heart diseases is necessary. This strategy permits comorbidity prevention and individualized planned treatment