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Biomedical subjects

A Macedo

Publications and source records attributed to A Macedo.

At least 19 recordsLinked to original sources
PubMed2006

The relationship between body mass index and educational level in young Portuguese males: 1995 and 1999 cohorts.

INTRODUCTION: Over the last decades, a progressive increase in height and weight has been observed throughout Europe. Increase in weight has been more marked however, with a resulting increase in overweight and obesity prevalence. RESULTS published have analyzed the relationship between body mass index (BMI) and educational level. Most studies indicate an inverse relationship between BMI and educational level in developed countries. OBJECTIVE: This study's main objective was to evaluate the relationship between BMI and educational level (years of schooling) in young Portuguese males in 1995 and 1999. METHODS: Transverse study of data (BMI and years of schooling) from the military inspection records of virtually the entire Portuguese male population with an average age of 20 years, examined in 1995 and 1999, totaling 81 363 and 71 254, respectively. Four classes of BMI (<20, 20-24.9, 25-29.9 and > or =30 kg/m2) and four schooling levels (<5, 5-9, 10-12, and >12 years) were considered. We applied the chi2 test for associations between BMI and educational level and the odds ratio to quantify categorical variables. The significance level was 5%. RESULTS: In 1995, 15.2% were overweight (BMI> or =25 years), increasing to 20.8% in 1999. The percentage of obesity (BMI> or =30 years) was 1.4% in 1995 and 2.2% in 1999. The percentage of overweight and obesity increased directly in line with the increase in educational level, both in 1995 and 1999. In 1995, the percentage of subjects with obesity according to years of schooling was as follows: <5 years--1.4%; 5-9 years--1.4%; 10-12 years--1.5% and >12 years--1.7%. In 1999, the results were as follows: <5 years--1.4%; 5-9 years--2.2%; 10-12 years--2.8% and >12 years--3.2%. CONCLUSIONS: We can conclude that the prevalence of overweight and obesity in young male Portuguese increased in the last decade and that, unlike most developed countries, the higher the level of education, the greater the percentage of overweight and obesity, both in 1995 and 1999.

Adolescent↗
PubMed2005

Support for involvement of neuregulin 1 in schizophrenia pathophysiology.

Schizophrenia is a common, multigenic psychiatric disorder. Linkage studies, including a recent meta-analysis of genome scans, have repeatedly implicated chromosome 8p12-p23.1 in schizophrenia susceptibility. More recently, significant association with a candidate gene on 8p12, neuregulin 1 (NRG1), has been reported in several European and Chinese samples. We investigated NRG1 for association in schizophrenia patients of Portuguese descent to determine whether this gene is a risk factor in this population. We tested NRG1 markers and haplotypes for association in 111 parent-proband trios, 321 unrelated cases, and 242 control individuals. Associations were found with a haplotype that overlaps the risk haplotype originally reported in the Icelandic population ("Hap(ICE)"), and two haplotypes located in the 3' end of NRG1 (all P<0.05). However, association was not detected with Hap(ICE) itself. Comparison of NRG1 transcript expression in peripheral leukocytes from schizophrenia patients and unaffected siblings identified 3.8-fold higher levels of the SMDF variant in patients (P=0.039). Significant positive correlations (P<0.001) were found between SMDF and HRG-beta 2 expression and between HRG-gamma and ndf43 expression, suggesting common transcriptional regulation of NRG1 variants. In summary, our results suggest that haplotypes across NRG1 and multiple NRG1 variants are involved in schizophrenia.

Chromosome Mapping↗
PubMed2005

Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.

We previously performed a genome-wide linkage scan in Portuguese schizophrenia families that identified a risk locus on chromosome 5q31-q35. This finding was supported by meta-analysis of 20 other schizophrenia genome-wide scans that identified 5q23.2-q34 as the second most compelling susceptibility locus in the genome. In the present report, we took a two-stage candidate gene association approach to investigate a group of gamma-aminobutyric acid (GABA) A receptor subunit genes (GABRA1, GABRA6, GABRB2, GABRG2, and GABRP) within our linkage peak. These genes are plausible candidates based on prior evidence for GABA system involvement in schizophrenia. In the first stage, associations were detected in a Portuguese patient sample with single nucleotide polymorphisms (SNPs) and haplotypes in GABRA1 (P=0.00062-0.048), GABRP (P=0.0024-0.042), and GABRA6 (P=0.0065-0.0088). The GABRA1 and GABRP findings were replicated in the second stage in an independent German family-based sample (P=0.0015-0.043). Supportive evidence for association was also obtained for a previously reported GABRB2 risk haplotype. Exploratory analyses of the effects of associated GABRA1 haplotypes on transcript levels found altered expression of GABRA6 and coexpressed genes of GABRA1 and GABRB2. Comparison of transcript levels in schizophrenia patients and unaffected siblings found lower patient expression of GABRA6 and coexpressed genes of GABRA1. Interestingly, the GABRA1 coexpressed genes include synaptic and vesicle-associated genes previously found altered in schizophrenia prefrontal cortex. Taken together, these results support the involvement of the chromosome 5q GABAA receptor gene cluster in schizophrenia, and suggest that schizophrenia-associated haplotypes may alter expression of GABA-related genes.

Chromosome Mapping↗
PubMed2005

Reduction of wastewaters and valorisation of by-products from "Serpa" cheese manufacture using nanofiltration.

Second cheese whey (SCW) is a by-product of cheese and curd cheese production that is usually not recovered and therefore contributes substantially to the negative environmental impact of the cheese manufacture plants. Membrane technology, namely nanofiltration (NF), is used in this work for the recovery of SCW organic nutrients, resulting from "Serpa" cheese and curd production. The SCW is processed by NF to recover a rich lactose fraction in the concentrate and a process water with a high salt content in the permeate. The permeation experiments were carried out in a plate and frame NF unit, where two NF membranes (NFT50 and HR-95-PP) were characterized and tested. The NF permeation experiments were performed accordingly with two different operation modes: total recirculation and concentration. In order to select the best membrane and operating pressure for the SCW fractionation, total recirculation experiments were carried out. After the membrane selection, the concentration experiments showed that the selected membrane (NFT50) at 30 bar allows a water recovery of approximately 80%, concentrating the second cheese whey nutrients approximately 5 times. Therefore, the NF operation can successfully reduce the wastewater organic load and simultaneously contribute to the valorisation of the cheese and curd cheese manufacture by-products.

Cheese↗
PubMed2004

[Secular trends of weight in Portugal at the end of the 20th century].

Obesity and the associated mortality and morbidity constitute one of the major problems and challenges for Public Health systems in Western countries. The majority of published studies show a progressive increase of obesity prevalence, that assumes even an higher importance in younger groups. This study aims to assess the trends in height, weight and body mass index (BMI) in young men in Portugal, in the last ten years. We extracted data from military census records of medical inspections 1994-95 (81,363 subjects) and 1998-99 (71,254 subjects). The data included recruitment center, age, weight, height and BMI. The results showed an increase of weight, height and body mass index between 1995 and 1999 (p<0.001). In 1995 the percentage of subjects with a BMI equal or higher than 25 was 15% and in 1999 was 22%. The percentage of subjects with a BMI higher than 30 was 1.4% and 2.3%, respectively. According to these results obesity and overweight prevention programs and therapeutic strategies must continue to be a major issue in health politics.

Adolescent↗
PubMed2004

Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11.

As part of an extensive study in the Portuguese Island population of families with multiple patients suffering from bipolar disorder and schizophrenia, we performed an initial genome-wide scan of 16 extended families with bipolar disorder that identified three regions on chromosomes 2, 11, and 19 with genome-wide suggestive linkage and several other regions, including chromosome 6q, also approached suggestive levels of significance. Dick et al. [2003: Am J Hum Genet 73:107-114] recently reported in a study of 250 families with bipolar disorder a maxLOD score of 3.61 near marker D6S1021 on chromosome 6q. This study replicates this finding having detected a peak NPL = 2.02 (P = 0.025) with the same marker D6S1021(104.7 Mb). Higher-density mapping provided additional support for loci on chromosome 6 including marker D6S1021 with an NPL = 2.59 (P = 0.0068) and peaking at marker D6S1639 (125 Mb) with an NPL = 3.06 (P = 0.0019). A similar pattern was detected with higher-density mapping of chromosome 11 with an NPL = 3.15 (P = 0.0014) at marker D11S1883 (63.1 Mb). Simulations at the density of our fine mapping data indicate that less than 1 scan out of 10 would find two such scores genome-wide in the same scan by chance. Our findings provide additional support for a susceptibility locus for bipolar disorder on 6q, as well as, suggesting the importance of denser scans. Published 2004 Wiley-Liss, Inc.

Bipolar Disorder↗
PubMed2004

Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22.

We performed a linkage analysis on 25 extended multiplex Portuguese families segregating for bipolar disorder, by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay, the GeneChip Human Mapping 10K Array (HMA10K). Of these families, 12 were used for a direct comparison of the HMA10K with the traditional 10-cM microsatellite marker set and the more dense 4-cM marker set. This comparative analysis indicated the presence of significant linkage peaks in the SNP assay in chromosomal regions characterized by poor coverage and low information content on the microsatellite assays. The HMA10K provided consistently high information and enhanced coverage throughout these regions. Across the entire genome, the HMA10K had an average information content of 0.842 with 0.21-Mb intermarker spacing. In the 12-family set, the HMA10K-based analysis detected two chromosomal regions with genomewide significant linkage on chromosomes 6q22 and 11p11; both regions had failed to meet this strict threshold with the microsatellite assays. The full 25-family collection further strengthened the findings on chromosome 6q22, achieving genomewide significance with a maximum nonparametric linkage (NPL) score of 4.20 and a maximum LOD score of 3.56 at position 125.8 Mb. In addition to this highly significant finding, several other regions of suggestive linkage have also been identified in the 25-family data set, including two regions on chromosome 2 (57 Mb, NPL = 2.98; 145 Mb, NPL = 3.09), as well as regions on chromosomes 4 (91 Mb, NPL = 2.97), 16 (20 Mb, NPL = 2.89), and 20 (60 Mb, NPL = 2.99). We conclude that at least some of the linkage peaks we have identified may have been largely undetected in previous whole-genome scans for bipolar disorder because of insufficient coverage or information content, particularly on chromosomes 6q22 and 11p11.

Bipolar Disorder↗
PubMed2004

Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis.

Schizophrenia is a common psychiatric disorder with a complex genetic etiology. To understand the genetic basis of this syndrome in Portuguese Island populations, we performed a genome-wide scan of 29 families with schizophrenia, which identified a single region on 5q31-5q35 with strong linkage (NPL=3.09, P=0.0012 at D5S820). Empirical simulations set a genome-wide threshold of NPL=3.10 for significant linkage. Additional support for this locus in schizophrenia comes from higher-density mapping and mapping of 11 additional families. The combined set of 40 families had a peak NPL=3.28 (P=0.00066) at markers D5S2112-D5S820. These data and previous linkage findings from other investigators provide strong and consistent evidence for this genomic region as a susceptibility locus for schizophrenia. Exploratory analyses of a novel phenotype, psychosis, in families with schizophrenia and bipolar disorder detected evidence for linkage to the same markers as found in schizophrenia (peak NPL=3.03, P=0.0012 at D5S820), suggesting that this locus may be responsible for the psychotic symptoms observed in both diseases. Molecular Psychiatry (2004) 9, 213-218. doi:10.1038/sj.mp.4001418 Published online 30 December 2003

Azores↗
PubMed2003

Identification of candidate genes for psychosis in rat models, and possible association between schizophrenia and the 14-3-3eta gene.

Although the genetic contribution to schizophrenia is substantial, positive findings in whole-genome linkage scans have not been consistently replicated. We analyzed gene expression in various rat conditions to identify novel candidate genes for schizophrenia. Suppression subtraction hybridization (SSH), with polyA mRNA from temporal and frontal cortex of rats, was used to identify differentially expressed genes. Expression of mRNA was compared between adult Lewis and Fischer 344 (F344) rats, adult and postnatal day 6 (d6) F344, and adult F344 treated with haloperidol or control vehicle. These groups were chosen because each highlights a particular aspect of schizophrenia: differences in strain vulnerability to behavioral analogs of psychosis; factors that may relate to disease onset in relation to CNS development; and improvement of symptoms by haloperidol. The 14-3-3 gene family, as represented by 14-3-3gamma and 14-3-3zeta isoforms in the SSH study, and SNAP-25 were among the candidate genes. Genetic association between schizophrenia and the 14-3-3eta gene, positioned close to a genomic locus implicated in schizophrenia, and SNAP-25 genes was analyzed in 168 schizophrenia probands and their families. These findings address three different genes in the 14-3-3 family. We find a significant association with schizophrenia for two polymorphisms in the 14-3-3eta gene: a 7 bp variable number of tandem repeats in the 5' noncoding region (P=0.036, 1 df), and a 3' untranslated region SNP (753G/A) that is an RFLP visualized with Ava II (P=0.028). There was no significant genetic association with SNAP-25. The candidate genes identified may be of functional importance in the etiology, pathophysiology or treatment response of schizophrenia or psychotic symptoms. This is to our knowledge the first report of a significant association between the 14-3-3eta-chain gene and schizophrenia in a family-based sample, strengthening prior association reports in case-control studies and microarray gene expression studies.

14-3-3 Proteins↗
PubMed2002

Association and linkage disequilibrium between a functional polymorphism of the dopamine-2 receptor gene and schizophrenia in a genetically homogeneous Portuguese population.

A functional polymorphism in the promoter region of the DRD2 gene has been found to be associated with schizophrenia in Japanese(1,2) and Swedish populations.(3) We attempted to replicate these findings in a genetically homogeneous Portuguese population using a family-based study design. Analysis of 78 trios revealed evidence for association between the -141 C Ins allele and schizophrenia using the haplotype relative risk (HRR) method (chi(2) = 9.30, P = 0.0023). Further examination of this sample using an alternative family-based association analysis method, the transmission disequilibrium test (TDT), of 33 informative matings from the Portuguese trios provided evidence for an allelic association and linkage disequilibrium between the insertion allele and schizophrenia (chi(2) = 8.76, P = 0.0031). These consistent results using two alternative family-based association analysis methods replicate the findings of previous reports, and thus further implicate a potential role for the dopamine-2 receptor in the genetic etiology of schizophrenia.

Female↗
PubMed2001

Chemicals with sweet aroma descriptors found in Portuguese wines from the Douro region: 2,6,6-trimethylcyclohex-2-ene-1,4-dione and diacetyl.

2,6,6-Trimethylcyclohex-2-ene-1,4-dione (TMCHD), a norisoprenoid with a sweet honey aroma descriptor, is reported for the first time as a minor constituent of single-varietal table and fortified wines from the demarcated Douro region. Olfactory gas chromatography (GC-O) of a volatile wine extract, previously isolated by preparative gas chromatography, indicated the presence of a zone containing an intense honey descriptor. The targeted odor compound was identified by GC-MS, GC-O, and Kovats index. Quantitative analysis using a selected characteristic ion (m/z 96) indicated that young Douro fortified wines from the 1997 vintage contained up to 4 microg/L TMCHD. The sweet honey sensory threshold limit for TMCHD in a model Port wine solution was found to be 25 microg/L. TMCHD is therefore only likely to contribute as a collective element to Port wine aroma. The wine volatile diacetyl was identified as a strong contributor to the sweet caramel aroma descriptor often associated with Port.

Chromatography, Gas↗
PubMed2001

Relationship between the number and impact of stressful life events and the onset of Graves' disease and toxic nodular goitre.

BACKGROUND: In the last few decades, several studies have suggested a possible association between Stressful Life Events (SLEs) and the onset of Graves' Disease (GD). However, others have criticised this association and it has not yet been possible to prove it unequivocally. At present, we are not aware of studies correlating SLE and non autoimmune thyrotoxicosis. OBJECTIVE: To assess possible associations between SLEs, the onset of GD and the onset of non autoimmune thyrotoxicosis (toxic nodular goitre, TNG). DESIGN: A case-control retrospective study. PATIENTS: This study included 93 subjects, divided into three groups of 31 each: GD, TNG and control (CG). The GD and TNG patients had thyroid disease diagnosed within the last 12 months, with clinical and biochemical confirmation. In the CG, psychopathological and endocrine disturbances had been ruled out. All three groups consisted of nine males (29%) and 22 females (71%). The mean age was 38.4 +/- 10.9 years in the GD group, 48.3 +/- 11.1 years in the TNG group and 41.1 +/- 11.8 years in the CG group. SLEs were evaluated (number and impact) for the 12 months preceding the onset of symptoms of thyroid disease. MEASUREMENTS: SLE occurrences and their impact on each group of cases were measured. To assess SLEs, we used the Life Experiences Survey (LES). Our statistical analysis included descriptive techniques and parametric and/or nonparametric comparative tests. P < 0.01 was considered statistically significant. Odds ratios were also calculated. RESULTS: Patients with GD had a significantly greater number of SLEs compared to the TNG group and the CG (P < 0.001). The number and impact of negative SLEs were significantly higher in GD compared to TNG and CG (P < 0.001). The difference between TNG and CG was not significant (P > 0.01). GD had a higher impact of positive SLEs than TNG (P = 0.004), and no significant differences were found between the GD group and CG. Neutral SLEs were similar in the three groups. CONCLUSIONS: These results suggest that SLEs are a precipitating factor of the onset of GD. We also demonstrated that SLEs do not seem to have any conclusive relationship with the onset of TNG.

Adult↗
PubMed2001

Surgery to the external genitalia.

Surgery to the external genitalia is one of the most challenging chapters of reconstructive urology, due to the need to correct complex problems such as hypospadias or epispadias (isolated or associated to exstrophies). Although this specialty has shown a continuous technical advancement there is no consensus as to the most efficient surgical procedure or to the best strategy to treat these pathologies. The papers reviewed here reflect these statements and reinforce the idea that surgeons' good sense, allied with their experience in the area, are the factors that define the choice of the ideal surgical option for each case.

Adolescent↗
PubMed2001

[Influence of placebo effect on planning and analysis of clinical trials].

Placebos, seen as any pharmacological procedure without a specific effect, have been widely used in medical practice. In the fifties, when clinical trial development started, placebos assume a new dimension, as fundamental tools in clinical trial design. The aim of this review was to evaluate and describe methodological aspects related to placebo use in clinical trials. Despite the importance attributed to placebos, particularly to maintain blinding, it is not always easy to simulate an active procedure. On the other hand, the ethical aspects of placebo utilization in some clinical and experimental circumstances are becoming more and more complex. These two aspects are commented. It is emphasized that the use of a placebo, by itself, may influence the results of a clinical study. We analyze the factors that determine the placebo effect but also how placebos and the placebo effect affect final results.

Clinical Trials as Topic↗