Streptococcus mutans GlnK protein: an unusual PII family member

Streptococcus mutans is a Gram-positive bacterium present in the oral cavity, and is considered to be one of the leading causes of dental caries. S. mutans has a glnK gene, which codes for a PII-like protein that is possibly involved in the integration of carbon, nitrogen and energy metabolism in several organisms. To characterize the GlnK protein of S. mutans, the glnK gene was amplified by PCR, and cloned into the expression vectors pET29a(+) and pET28b(+). The native GlnK-Sm was purified by anion exchange (Q-Sepharose) and affinity (Hi-Trap Heparin) chromatography. The GlnK-His-Sm protein was purified using a Hi-Trap Chelating-Ni2+ column. The molecular mass of the GlnK-His-Sm proteins was 85 kDa as determined by gel filtration, indicating that this protein is a hexamer in solution. The GlnK-His-Sm protein is not uridylylated by the Escherichia coli GlnD protein. The activities of the GlnK-Sm and GlnK-His-Sm proteins were assayed in E. coli constitutively expressing the Klebsiella pneumoniae nifLA operon. In K. pneumoniae, NifL inhibits NifA activity in the presence of high ammonium levels and the GlnK protein is required to reduce the inhibition of NifL in the presence of low ammonium levels. The GlnK-Sm protein was unable to reduce NifL inhibition of NifA protein. Surprisingly, the GlnK-His-Sm protein was able to partially reduce NifL inhibition of the NifA protein under nitrogen-limiting conditions, in a manner similar to the GlnK protein of E. coli. These results suggested that S. mutans GlnK is functionally different from E. coli PII proteins.

Four adult hemoglobin types in one mulatto family

The studied family showed the presence of four different types of hemoglobin. The family member who gave rise to this study (=propositus) presented Hb C and the hybrid Hb CG-phila. The propositus has three children, all of which have Hb AC; none of the family members showed any clinical symptoms. The investigation of the hemoglobin arose from the finding of target red cells in a blood test done during the pre-operatory examination for lower limb varicose vein stripping. The hybrid Hb CG-phila is due to two gene pairs, each of which with individual expression, determining the synthesis and the particular type subunits. The hybrid Hb CG-phila is formed by the combination velocity of the subunits alpha2G-philabeta2; therefore the proportion of the hybrid Hb CG-phila is lower than Hb G-phila and Hb C. The identification and molecular characterization of Hb G-phila showed the position alpha268 Asn->Lys beta2 and Hb C showed alpha2beta26 Glu->Lys.

Noonan syndrome: a clinical and genetic study of 31 patients

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of theMSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

Genetic analysis of the ELOVL6 gene polymorphism associated with type 2 diabetes mellitus

Recent animal studies have indicated that overexpression of the elongation of long-chain fatty acids family member 6 (Elovl6) gene can cause insulin resistance and β-cell dysfunction. These are the major factors involved in the development of type 2 diabetes mellitus (T2DM). To identify the relationship between single nucleotide polymorphisms (SNP) ofELOVL6 and T2DM pathogenesis, we conducted a case-control study of 610 Han Chinese individuals (328 newly diagnosed T2DM and 282 healthy subjects). Insulin resistance and islet first-phase secretion function were evaluated by assessment of insulin resistance in a homeostasis model (HOMA-IR) and an arginine stimulation test. Three SNPs of the ELOVL6 gene were genotyped with polymerase chain reaction-restriction fragment length polymorphism, with DNA sequencing used to confirm the results. Only genotypes TT and CT of the ELOVL6 SNP rs12504538 were detected in the samples. Genotype CC was not observed. The T2DM group had a higher frequency of the C allele and the CT genotype than the control group. Subjects with the CT genotype had higher HOMA-IR values than those with the TT genotype. In addition, no statistical significance was observed between the genotype and allele frequencies of the control and T2DM groups for SNPs rs17041272 and rs6824447. The study indicated that the ELOVL6 gene polymorphism rs12504538 is associated with an increased risk of T2DM, because it causes an increase in insulin resistance.

Isolation and characterization of the full-length cDNA encoding a member of a novel cytochrome p450 family (CYP320A1) from the tropical freshwater snail, Biomphalaria glabrata, intermediate host for Schistosoma mansoni

Cytochrome p450s (cyp450s) are a family of structurally related proteins, with diverse functions, including steroid synthesis and breakdown of toxins. This paper reports the full-length sequence of a novel cyp450 gene, the first to be isolated from the tropical freshwater snail Biomphalaria glabrata, an important intermediate host of Schistosoma mansoni. The nucleotide sequence is 2291 bp with a predicted amino acid sequence of 584aa. The sequence demonstrates conserved cyp450 structural motifs, but is sufficiently different from previously reported cyp450 sequences to be given a new classification, CYP320A1. Initially identified as down-regulated in partially resistant snails in response to S. mansoni infection, amplification of this gene using RT-PCR in both totally resistant or susceptible snail lines when exposed to infection, and all tissues examined, suggests ubiquitous expression. Characterization of the first cyp450 from B. glabrata is significant in understanding the evolution of these metabolically important proteins.

Association of the solute carrier family 11 member 1 gene polymorphisms with susceptibility to leprosy in a Brazilian sample

Natural resistance-associated macrophage protein 1/solute carrier family 11 member 1 gene (Nramp1/Slc11a1) is a gene that controls the susceptibility of inbred mice to intracellular pathogens. Polymorphisms in the human Slc11a1/Nramp1 gene have been associated with host susceptibility to leprosy. This study has evaluated nine polymorphisms of the Slc11a1/Nramp1 gene [(GT)n, 274C/T, 469+14G/C, 577-18G/A, 823C/T, 1029 C/T, 1465-85G/A, 1703G/A, and 1729+55del4] in 86 leprosy patients (67 and 19 patients had the multibacillary and the paucibacillary clinical forms of the disease, respectively), and 239 healthy controls matched by age, gender, and ethnicity. The frequency of allele 2 of the (GT)n polymorphism was higher in leprosy patients [p = 0.04, odds ratio (OR) = 1.49], whereas the frequency of allele 3 was higher in the control group (p = 0.03; OR = 0.66). Patients carrying the 274T allele (p = 0.04; OR = 1.49) and TT homozygosis (p = 0.02; OR = 2.46), such as the 469+14C allele (p = 0.03; OR = 1.53) of the 274C/T and 469+14G/C polymorphisms, respectively, were more frequent in the leprosy group. The leprosy and control groups had similar frequency of the 577-18G/A, 823C/T, 1029C/T, 1465-85G/A, 1703G/A, and 1729+55del4 polymorphisms. The 274C/T polymorphism in exon 3 and the 469+14G/C polymorphism in intron 4 were associated with susceptibility to leprosy, while the allele 2 and 3 of the (GT)n polymorphism in the promoter region were associated with susceptibility and protection to leprosy, respectively.

Family occurrence of schistosomal hepatosplenomegaly and maternal effect

In this paper we present a study of members of 265 nuclear families, aged six or more. This study is based of family heredograms, and takes into account the clinical form ofschistosomiasis observed before treatment with oxamniquine. The probability of occurrence of two or more cases ofhepatosplenomegaly is low, notwithstanding the fact that it was observed in 38 families. Even less frequent is the occurrence of three or more cases observed in 17 families (P=0.002). The concentration of the hepatosplenic form was higher among siblings than it was among mothers and children, or fathers and children. It was found to be not significant between husband (father) and wife (mother). These observations reinforce the evidence for the presence of a genetic component in susceptibility to the hepatosplenic form of the disease. In cases in which the mother was hepatosplenic there was a higher incidence of hepatosplenic children; the relative risk was a least five times higher than in those in which the father was the affected member (the maternal effect). In cases where both members were affected by the hepatointestinal form, the risk to the filial generation was similar to that of the population in general. Thus, in the process towards severe forms of Schistosomiasis mansoni, pre and post natal factors might be involved.

Family dynamics in face of Alzheimer's in one of its members

Abstract OBJECTIVE To understand the family dynamics when there is a member in the residence with Alzheimer's disease. METHOD A study of qualitative approach, using the creative sensitive method (CSM), and with participation of two families who had a member with Alzheimer's disease at home. RESULTS Three categories emerged: Effects of Alzheimer's disease and the family dynamics; Development process of Alzheimer's disease and Coping strategies in face of the disease. CONCLUSION It was possible to know the manifestations and consequences of Alzheimer's disease in the family, such as mutual help, the mobilization of resources to activate memories of the past, spirituality and faith. There was also understanding of the structure of family dynamics.

The European Union and the Member States: two different perceptions of border

Abstract In this article we analyze two different perceptions of border inside Europe. On the one hand, we have the perception idealized by the European Union as an international organization, which believes that states benefit more from cooperation and dilution of borders in a common space than from keeping its borders as a symbol of its sovereignty. On the other hand, we have the European member states, taken individually, with particular interests and goals that, given the threat of illegal immigration, which is currently felt in the large-scale Europe, adopt a realistic perception of the border, and look at each territory as a space that needs protection from external threats. Following this argument, we reason that the current construction of walls in several European countries reflects the rebirth of a realistic perception of the border, and this is one more challenge for Europe regarding its unity and solidarity. Is this the end of the Schengen Agreement? What is going to happen to the European project if each state unilaterally adopts a strategy to deal with illegal immigration and refugees that are coming to Europe? Can immigration lead to a retrocession of the EU idealist significance of border?

Changes in the ways of life of farmers in the northwest of Portugal after 1980

ABSTRACT This study analyzes the changes from 1980s in the lifestyles of families of pluriactive and exclusively agricultural farmers in the northwest of Portugal caused by the income arising from the migration of at least one member of the family to another country in the European Union and the narrowing of the labor and consumer markets among the villages, towns and cities. The theoretical framework used to analyze the changes in the way of life of the pluriactive farmers was based on Giddens' theory of structuration, which denies both the absolute determinism of the structure on the subject and the freedom of unrestrained action of these same subjects. The study was carried out with the application of a survey to 78 farmers, divided into "pluriactive" and "exclusively agricultural" farmers. The findings pointed out to a greater aquisition of modes of urban life by pluriactive farmers compared with the exclusively agricultural farmers and showed a generational bias in this process of acculturation.

STRATEGIC DECISIONS OF FAMILY FIRMS ON CASH ACCUMULATION

ABSTRACTGiven the particular strengths, weaknesses, and peculiarities of family firms as well as the importance of liquidity in today’s marketplace, we analyze the distinct characteristics and strategies of family businesses related to the amount of cash a firm holds. We look beyond the traditional factors that influence decisions related to cash management to examine factors that are particularly important for family firms. Specifically, we outline the relevance of strategic decisions guided by family firms’ conservatism, flexibility, long-term view, and the active control that they have over family members. To our knowledge, no prior studies exist regarding family firms and their strategic adjustment of cash holding. Therefore, we investigate whether the ownership structure of the firm (through the presence of a controlling family) moderates decisions on cash holding. We found that family firms tend to accumulate cash for strategic reasons and as a result of their own idiosyncrasies. Thus, family firms can achieve optimal cash accumulation more efficiently than non-family firms.

Family expectation, social adjustment and gender differences in a sample of schizophrenic patients

A case series to study factors related to family expectation regarding schizophrenic patients was conducted in an out-patient setting in the city of S. Paulo, Brazil. Patients diagnosed as presenting schizophrenia by the ICD 9th Edition and having had the disease for more than four years were included in the study. Family Expectation was measured by the difference between the Katz Adjustment Scale (R2 and R3) scores based on the relative's expectation and the socially expected activities of the patient (Discrepancy Score), and social adjustment was given by the DSM-III-R Global Assessment Scale (GAS) . Outcome assessments were made independently, and 44 patients comprised the sample (25 males and 19 females). The Discrepancy mean score was twice as high for males as for females (p < 0.02), and there was an inverse relationship between the discrepancy score and social adjustment (r =-0.46, p < 0.001). Moreover, sex and social adjustment exerted independent effects on the discrepancy score when age, age at onset and number of psychiatric admissions were controlled by means of a multiple regression technique. There was an interaction between sex and social adjustment, the inverse relationship between social adjustment and discrepancy score being more pronounced for males. These findings are discussed in the light of the potential association between the family environment, gender and social adjustment of schizophrenic patients, and the need for further research, i.e. ethnographic accounts of interactions between patient and relatives sharing households particularly in less developed countries.

Worldwide molecular epidemiology of HIV

Human immunodeficiency virus (HIV) is the worldwide disseminated causative agent of acquired immunodeficiency syndrome (AIDS). HIV is a member of the Lentivirus genus of Retroviridae family and is grouped in two types named HIV-1 and HIV-2. These viruses have a notable ability to mutate and adapt to the new conditions of human environment. A large incidence of errors at the transcriptional level results in changes on the genetic bases during the reproductive cycle. The elevated genomic variability of HIV has carried important implications for the diagnosis, treatment and prevention as well as epidemiologic investigations. The present review describes important definitions and geographical distribution of subtypes, circulating recombinant forms and other genomic variations of HIV. The present study aimed at leading students of Biomedical Sciences and public health laboratory staff guidance to general and specific knowledge about the genomic variability of the HIV.