Biomedical subjects

Suely K N Marie

Publications and source records attributed to Suely K N Marie.

At least 19 recordsLinked to original sources

PubMed2007

Lower HDL-cholesterol among healthy middle-aged Japanese-Brazilians in São Paulo compared to Natives and Japanese-Brazilians in Japan.

Blood lipid levels are determined by a combination of genetic and environmental factors. Higher than average values of high-density lipoprotein cholesterol (HDL-cholesterol) have been observed in people of Japanese ethnicity. The aim of this study was to investigate whether Japanese immigrants to Brazil and subsequent generations maintain the protective benefits associated with higher levels of HDL-cholesterol, and to examine the potential associations between HDL-cholesterol and a variety of other blood lipids, anthropometric and lifestyle factors. Healthy men and women aged 35 years and older who were Native Japanese (n = 198) or Japanese-Brazilians (JB) living in São Paulo, Brazil (n = 198) and in some Japanese cities (n = 246) were investigated. Anthropometric variables, blood lipids including HDL-cholesterol, and lifestyle factors were assessed. Serum HDL-cholesterol was observed to be lower for JB in São Paulo (both women and men) compared with Natives and JB in Japan. Among the groups, triglycerides, waist circumference, LDL-cholesterol, meat intake, stress, and smoking were observed to be independently negatively associated with HDL-cholesterol, whereas total cholesterol, fish intake, and physical activity were positively associated. Lower levels of HDL-cholesterol among both men and women of JB in São Paulo compared with both other groups were confirmed even after lifestyle adjustments. Our findings highlight the significantly lower levels of HDL-cholesterol among Japanese-Brazilians living in São Paulo city compared to Japanese-Brazilians and Native Japanese residing in Japan. Although several lifestyle factors were found to be significantly associated with HDL-cholesterol, they cannot adequately explain the role of the Brazilian cultural environment on HDL-cholesterol levels.

Acculturation↗

PubMed2006

Inhibition of phospholipase A2 reduces neurite outgrowth and neuronal viability.

Phospholipase A2 (PLA(2)) has been implicated in neurodevelopmental processes and in the early development of the nervous system. We investigated the effects of the inhibition of calcium-dependent and calcium-independent subtypes of cytosolic PLA2 (cPLA2 and iPLA2) on the development and viability of primary cultures of cortical and hippocampal neurons. PLA2 in these cultures was continuously inhibited with methylarachidonyl-fluorophosphonate (MAFP), an irreversible inhibitor of cPLA2 and iPLA2, or with bromoenol lactone (BEL), an irreversible selective iPLA2 inhibitor. The effect of PLA2 inhibitors on the development of neuronal cultures was ascertained by total cell count and morphological characterisation. Neuronal viability was quantified with MTT assays. Inhibition of PLA2 resulted in reduction of neuritogenesis and neuronal viability, disrupting neuronal homeostasis and leading to neuronal death. We conclude that the functional integrity of both calcium-dependent and calcium-independent cytosolic PLA2 is necessary for the in vitro development of cortical and hippocampal neurons.

Animals↗

PubMed2006

Intrusion of the mandibular condyle into the middle cranial fossa: case report and review of the literature.

OBJECTIVES: To describe a case of mandibular condyle intrusion into the middle cranial fossa in a young child and to systematically review the literature pertaining to this condition. STUDY DESIGN: The diagnostic procedures comprised clinical examination, health history, and both magnetic resonance imaging and computerized tomography. A systematic review of the literature from PubMed, Medline, and Web of Science databases from 1960 to 2005 was made and a total of 55 cases in 51 references were found, of which 36 were described in detail. CONCLUSIONS: Prompt diagnosis of mandibular condyle intrusion into the middle cranial fossa is essential to minimize complications. Advanced imaging modalities of computed tomography and magnetic resonance imaging are indicated.

Accidents, Traffic↗

PubMed2006

Community-based familial study of Helicobacter pylori infection among healthy Japanese Brazilians.

BACKGROUND: The present study of Helicobacter pylori infection was conducted in family units of Japanese Brazilians living in São Paulo city. The authors attempted to determine the seroprevalence of H. pylori infection within family units of Japanese Brazilians and to identify risk factors associated with intrafamilial transmission. METHODS: The seroprevalence was determined in 1037 healthy and asymptomatic volunteer subjects aged 0-69 years (530 adults and 507 children) of 265 families. Demographic data and details of living conditions were obtained from each family. RESULTS: H. pylori seropositive infection was found in 39.2% of the parents and 9.3% of the children. A reduced risk of H. pylori infection was found for girls (odds ratio [OR] 0.45; 95% confidence interval [CI], 0.23-0.86). The prevalence of infection was 3.5% for children with uninfected parents; 9.9% (OR, 2.51; 95% CI, 0.95-6.61) for those with a seronegative mother and a seropositive father; 14.9% (OR, 4.93; 95% CI, 1.86-13.06) for those with a seropositive mother and a seronegative father; and 16.0% (OR, 5.29; 95% CI, 1.98-14.14) for those with seropositive parents. On multivariate analysis, the use of a pacifier, and mother's symptoms of nausea and vomiting were significantly associated with the risk of H. pylori infection for children, and the child having her/his own room was significantly associated with a reduced risk. Income was not associated with H. pylori infection in children and was inversely associated in parents. CONCLUSION: The prevalence of H. pylori infection in family units of Japanese Brazilians supports the hypothesis of a predominant role for mother-child transmission of H. pylori infection, mainly through contact with regurgitated gastric juice in the mother's mouth.

Adolescent↗

PubMed2006

Associations of TNF-A-1031TT and -857TT genotypes with Helicobacter pylori seropositivity and gastric atrophy among Japanese Brazilians.

BACKGROUND: Our previous study in a Japanese population showed elevated Helicobacter pylori seropositivity in those with tumor necrosis factor (TNF) A -1031TT and -857TT genotypes. This study examined the associations of this seropositivity and serum pepsinogen (PG) levels with these genotypes in Japanese Brazilians. METHODS: The subjects were 963 individuals (399 males and 564 females), aged 33 to 69 years, from four regions (Sao Paulo, Curitiba, Mogi das Cruzes, and Mirandopolis) in Brazil. Gastric atrophy was evaluated with serum pepsinogens (PGI < 70 ng/dl and PGI/II < 3), and TNF T-1031C and C-857T were genotyped by polymerase chain reaction with confronting two-pair primers (PCR-CTPP). RESULTS: The frequency of TNF-A T-1031C was 68.4% TT, 28.4% TC, and 3.3% CC, and that of C-857T was 64.5% CC, 31.7% CT, and 3.8% TT, whose distributions were in Hardy-Weinberg equilibrium. No significant associations of the genotypes with H. pylori seropositivity or gastric atrophy were found. However, male participants with TNF-A -1031CC and -857CC showed the lowest seropositivity (43.8% out of 16), and males with TNF-A -1031TT and -857TT showed the highest (61.5% out of 13). CONCLUSION: This study demonstrated that the associations between H. pylori seropositivity and TNF-A genotypes were not marked for Japanese Brazilians. The genotypes were not associated with gastric atrophy among the seropositive individuals.

Adult↗

PubMed2006

PIK3CA gene mutations in pediatric and adult glioblastoma multiforme.

The phosphatidylinositol 3-kinases (PI3K) are a family of enzymes that relay important cellular growth control signals. Recently, a large-scale mutational analysis of eight PI3K and eight PI3K-like genes revealed somatic mutations in PIK3CA, which encodes the p110alpha catalytic subunit of class IA PI3K, in several types of cancer, including glioblastoma multiforme. In that report, 4 of 15 (27%) glioblastomas contained potentially oncogenic PIK3CA mutations. Subsequent studies, however, showed a significantly lower mutation rate ranging from 0% to 7%. Given this disparity and to address the relation of patient age to mutation frequency, we examined 10 exons of PIK3CA in 73 glioblastoma samples by PCR amplification followed by direct DNA sequencing. Overall, PIK3CA mutations were found in 11 (15%) samples, including several novel mutations. PIK3CA mutations were distributed in all sample types, with 18%, 9%, and 13% of primary tumors, xenografts, and cell lines containing mutations, respectively. Of the primary tumors, PIK3CA mutations were identified in 21% and 17% of pediatric and adult samples, respectively. No evidence of PIK3CA gene amplification was detected by quantitative real-time PCR in any of the samples. This study confirms that PIK3CA mutations occur in a significant number of human glioblastomas, further indicating that therapeutic targeting of this pathway in glioblastomas is of value. Moreover, this is the first study showing PIK3CA mutations in pediatric glioblastomas, thus providing a molecular target in this important pediatric malignancy.

Adolescent↗

PubMed2005

Identification of novel differentially expressed genes in human astrocytomas by cDNA representational difference analysis.

Diffuse infiltrating gliomas are the most common tumors of the central nervous system (CNS), naturally progressing from a lower-grade to a higher-grade malignancy. Several genetic alterations have been correlated with astrocytic tumors; however, a number of as yet unknown genes may also be involved. Therefore, we set out to search for genes that are differentially expressed in anaplastic astrocytoma and normal CNS tissue by applying a PCR-based subtractive hybridization approach, namely, representational difference analysis (RDA). The results of DNA sequencing of a sample (96 cDNA clones) from the subtracted library allowed the identification of 18 different genes, some of which were represented by several cDNA clones, coding for the Np95, LMO1, FCGBP, DSCAM, and taxilin proteins. Quantitative real-time PCR analysis for five of these genes was performed using samples of astrocytic tumors of different grades, confirming their higher expression when compared to non-tumoral CNS tissue. Identification of differentially expressed genes present in gliomas but not in normal CNS tissue is important not only to better understand the molecular basis of these cancers, but also to generate diagnostic DNA chips, which may be useful in future therapeutic intervention.

Base Sequence↗

PubMed2005

Difference in adhesion molecule expression (ICAM-1 and VCAM-1) in juvenile and adult dermatomyositis, polymyositis and inclusion body myositis.

To assess the differential expression of adhesion molecules ICAM-1 and VCAM-1 in vessels and muscle fibers in acquired inflammatory myopathy, a series comprising thirty-seven muscle biopsy specimens from patients with JDM, fifteen with DM, fifteen with PM and seven with IBM was studied. Histochemical and immunohistochemical tests (StreptABCcomplex/HRP) for ICAM-1 and VCAM-1 (Dakopatts) were performed in serial frozen sections. ICAM-1 expression in vessels was significantly (p<0.0001) more present in JDM than PM, DM or IBM. However, in muscle fibers, ICAM-1 expression was absent in both JDM and IBM, but present in 33.4% and 40% in PM and DM respectively (p<0.0001). VCAM-1 expression in vessels was significantly more present in PM and DM than JDM and IBM (p<0.0001) while VCAM-1 expression in muscle fibers was almost absent in the four groups (p=0.2632). These findings emphasize the importance of adhesion molecules in the pathophysiology of the inflammatory myopathies, mainly the marked ICAM-1 expression in vessels in JDM, corroborating the microvascular involvement in this disease. In contrast, VCAM-1 seems not to play a major role in JDM, as previously described in PM, DM and IBM. Adhesion molecule expression in JDM presents a differential characteristic when compared to PM, DM and IBM.

Adult↗

PubMed2005

Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI.

BACKGROUND: Merosin-deficient congenital muscular dystrophy (CMD) is characterized clinically by hypotonia and muscular weakness and, on imaging studies, by white matter (WM) abnormality. OBJECTIVE: To evaluate MRI findings in Brazilian patients with merosin-deficient CMD. MATERIALS AND METHODS: Twenty-five patients were evaluated using MRI. Three patients presented with partial merosin deficiency and 22 with total merosin deficiency. Follow-up examinations were done in 7 cases. T1- and T2-weighted images were performed in all examinations, and fluid-attenuated inversion recovery (FLAIR) was performed in 15. Enhanced images were done in 11 cases. The WM involvement was classified according to location and severity. RESULTS: From 1991 to 2004, 32 MRI examinations were performed. Severe involvement was found in 23 patients in the frontal and temporal lobes, in 18 patients in the parietal lobes, and in 7 patients in the occipital lobes. The brain stem (n=5), cerebellum (n=6), internal capsules (n=1), and external capsules (n=5) were also affected. One patient had occipital pachygyria, and one had cerebellar vermian hypoplasia. No gadolinium enhancement was noted. Follow-up MRI showed no interval change (n=4), progression (n=1), or improvement of the findings (n=2). CONCLUSION: This series of patients demonstrated that there was no correlation between the extent of WM abnormality on MRI and the clinical status and degree of merosin deficiency (partial or total). Bilateral WM involvement was seen to be more prominent in the parietal, frontal, and temporal regions of the brain. The brain stem and internal and external capsules were less affected. Cerebellar WM involvement is rare. Changes on follow-up imaging studies did not correlate with the clinical status of the patient.

Brain↗

PubMed2005

Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging.

PURPOSE: To prospectively use hydrogen 1 ((1)H) magnetic resonance (MR) spectroscopy and apparent diffusion coefficient (ADC) maps to try to explain the discrepancy between the extensive white matter (WM) abnormalities observed at MR imaging and the relatively mild neurocognitive decline in patients with merosin-deficient congenital muscular dystrophy (CMD). MATERIALS AND METHODS: The hospital ethics committee approved this study, and informed consent was obtained. Nine patients (five boys, four girls; age range, 3-9 years; mean, 6 years +/- 2 [standard deviation]) with merosin-deficient CMD underwent T1-weighted, T2-weighted, fluid-attenuated inversion recovery, and diffusion-weighted MR imaging and (1)H MR spectroscopy, which was performed in the parieto-occipital WM (POWM) and frontal WM (FWM) by using stimulated-echo acquisition mode. Metabolite (N-acetylaspartate [NAA], choline-containing compounds [Cho], and myo-inositol [mI]) ratios were calculated in relation to creatine/phosphocreatine (Cr) and water (H(2)O). NAA/Cho was also calculated. ADCs were calculated in approximately the same locations that were studied with spectroscopy. For comparison, (1)H MR spectroscopy (n = 10) and ADC mapping (n = 7) were also performed in 10 healthy age- and sex-matched control subjects (three boys, seven girls; age range, 4-9 years; mean, 6 years +/- 1). Statistical analysis involved the t test for comparison between different groups; correlation between ADC and spectroscopy results was studied with the Pearson test. RESULTS: MR imaging revealed evidence of bilateral WM involvement in all patients. Whereas their NAA/Cr and Cho/Cr were normal, their mI/Cr was slightly increased compared with that in control subjects (P = .03 in FWM and P = .07 in POWM), and their NAA/Cho was decreased in POWM (P = .03). NAA/H(2)O, Cr/H(2)O, Cho/H(2)O, and mI/H(2)O were considerably decreased (P < .05 for all) and ADC values were increased (P < .001) in WM in all patients versus these values in WM in control subjects. There was significant correlation between ADC values and metabolite/water ratios (r = -0.777 to -0.967, P < .05). CONCLUSION: ADC mapping and (1)H MR spectroscopy reveal abnormally high free-water concentrations in the WM of patients with merosin-deficient CMD.

Child↗

PubMed2005

ADAM23 methylation and expression analysis in brain tumors.

The ADAMs comprises a family of cell surface proteins with putative roles in cell-cell and/or cell-matrix interactions and in protease activities. In this work, we have examined the expression level and the methylation status of the 5' upstream region of the adhesion molecule ADAM23 in two brain tumor cell lines (A172 and T98G) as well as in three primary brain tumors (one grade II astrocytoma and two meningiomas) and 15 glioblastoma xenografts. Using bisulfite sequencing we verified that the percentage of methylated dinucleotides is higher in T98G when compared to A172 and that methylation significantly correlates with ADAM23 mRNA and protein expression. However, we were unable to detect methylation and down-regulation of the ADAM23 gene in brain tumors. Together, these results indicate that ADAM23 down-regulation by methylation in brain tumors is a rare event and it may help explain why brain tumor metastases are rarely found elsewhere in the body.

ADAM Proteins↗

PubMed2004

Identification and complete sequencing of novel human transcripts through the use of mouse orthologs and testis cDNA sequences.

The correct identification of all human genes, and their derived transcripts, has not yet been achieved, and it remains one of the major aims of the worldwide genomics community. Computational programs suggest the existence of 30,000 to 40,000 human genes. However, definitive gene identification can only be achieved by experimental approaches. We used two distinct methodologies, one based on the alignment of mouse orthologous sequences to the human genome, and another based on the construction of a high-quality human testis cDNA library, in an attempt to identify new human transcripts within the human genome sequence. We generated 47 complete human transcript sequences, comprising 27 unannotated and 20 annotated sequences. Eight of these transcripts are variants of previously known genes. These transcripts were characterized according to size, number of exons, and chromosomal localization, and a search for protein domains was undertaken based on their putative open reading frames. In silico expression analysis suggests that some of these transcripts are expressed at low levels and in a restricted set of tissues.

Amino Acid Sequence↗

PubMed2004

Myositis in mixed connective tissue disease: a unique syndrome characterized by immunohistopathologic elements of both polymyositis and dermatomyositis.

OBJECTIVE: To characterize the inflammatory cells, the expression pattern of adhesion molecules (ICAM-1 and VCAM-1), membrane attack complex (C5b-9), and major histocompatibility complex (MHC) antigens in muscle biopsy of mixed connective tissue disease (MCTD). METHOD: We studied 14 patients with MCTD, and compared to 8 polimyositis (PM) patients, 5 dermatomyositis (DM) and 4 dystrophies. Inflammatory cells were examined for CD4+, CD8+, memory and naive T cells, natural killer cells, and macrophages. Expression of MHC-I and -II, ICAM-1, VCAM-1 and C5b -9 were characterized on muscle fibers and vessels. RESULTS: Morphological analysis displayed a pattern of PM. Immunohistochemical study revealed a decreased number of capillaries, predominance of CD4+ and B cells in perivascular regions and predominance of CD8+ and CD45RO+ in endomysial regions. The expression of MHC-I on vessels and on degenerated muscle fibers, MHC-II expression on vessels and perifascicular muscle fibers, and the expression of ICAM-1 / VCAM-1 on endothelial cells indicated both vascular and cellular-immune mediated processes causing the muscular lesion. CONCLUSION: Our findings revealed a mixed mechanism in MCTD, both vascular involvement as DM, and cell-mediated like PM.

Adult↗

PubMed2004

A transcript finishing initiative for closing gaps in the human transcriptome.

We report the results of a transcript finishing initiative, undertaken for the purpose of identifying and characterizing novel human transcripts, in which RT-PCR was used to bridge gaps between paired EST clusters, mapped against the genomic sequence. Each pair of EST clusters selected for experimental validation was designated a transcript finishing unit (TFU). A total of 489 TFUs were selected for validation, and an overall efficiency of 43.1% was achieved. We generated a total of 59,975 bp of transcribed sequences organized into 432 exons, contributing to the definition of the structure of 211 human transcripts. The structure of several transcripts reported here was confirmed during the course of this project, through the generation of their corresponding full-length cDNA sequences. Nevertheless, for 21% of the validated TFUs, a full-length cDNA sequence is not yet available in public databases, and the structure of 69.2% of these TFUs was not correctly predicted by computer programs. The TF strategy provides a significant contribution to the definition of the complete catalog of human genes and transcripts, because it appears to be particularly useful for identification of low abundance transcripts expressed in a restricted set of tissues as well as for the delineation of gene boundaries and alternatively spliced isoforms.

Alternative Splicing↗

PubMed2004

Immunohistochemical analysis of adhesion molecule expression on muscle biopsy specimens from patients with juvenile dermatomyositis.

OBJECTIVE: To assess expression of intercellular adhesion molecule-1 (ICAM-1) and vascular cell adhesion molecule-1 (VCAM-1) on muscle biopsy specimens from patients with untreated juvenile dermatomyositis (JDM). METHODS: Histochemical and immunohistochemical tests for ICAM-1 and VCAM-1 were performed on serial frozen sections from 27 JDM muscle biopsy specimens. ICAM-1 and VCAM-1 expression was analyzed on capillaries, perimysial and endomysial large vessels, and muscle fibers. Expression was assessed and graded semiquantitatively. RESULTS: Increased ICAM-1 expression was observed on capillaries and perimysial large vessels on semiquantitative analysis, and was statistically more evident than on endomysial large vessels. In all cases, only a few muscle vessels showed expression of VCAM-1. Expression of ICAM-1 and VCAM-1 was observed on few muscle fibers. CONCLUSION: The observation of ICAM-1 expression on muscle vessels, mainly on capillaries of patients with untreated JDM compared to controls, and VCAM-1 expression to a lesser extent, mostly on muscle vessels surrounded by inflammatory infiltrate, supports the participation of these adhesion molecules in the pathologic mechanism of vascular injury in JDM.

Adolescent↗

PubMed2004

Possible association of interleukin 1B C-31T polymorphism among Helicobacter pylori seropositive Japanese Brazilians with susceptibility to atrophic gastritis.

Associations between anti-Helicobacter pylori seropositivity (HP+) and interleukin 1B (IL-1B) C-31T polymorphism have been reported and little is known about the host factors involved in the development of atrophic gastritis (AG) among infected individuals. This study aimed to examine the IL-1B C-31T polymorphism among anti-HP antibody seropositive Japanese descendants with AG in Brazil and to investigate the interactions with lifestyle factors. Subjects were 455 seropositive from four cities in Brazil, aged 33-69 years. Sex-age-adjusted odds ratio (OR) of AG for 61 current smokers was 1.29, 95% confidence interval (CI): 0.18-9.26 for T/T, while that for 325 never smokers was 0.52, 95% CI: 0.27-0.98. A negative association for AG and never alcohol drinking, every day fruit consumption and milk drinking, and less frequently coffee drinking in individuals with C/T or T/T genotype was observed. This study suggested that host genetic constitution and lifestyle factors may influence the protective effect for AG development.

Adult↗

PubMed2003

[Transcranial magnetic stimulation].

Transcranial magnetic stimulation (TMS) allows non-invasive study and modulation of cortical excitability in humans. Changes in cortical excitability in physiological and pathological conditions can be tracked by measurements such as motor threshold, motor evoked potentials, recruitment curves, intracortical facilitation and inhibition. The central motor conduction time can estimate neural transmission in central motor pathways. Changes in areas of representation in sensorimotor cortex can be studied with cortical mapping. Modulation of cortical processing can be used to evaluate different brain functions. Therapeutic use in depression, Parkinson's disease and epilepsy has raised great interest over the past decade. Non-invasive cortical mapping may be achieved by combining TMS to other neurophysiological/ neuroimaging techniques. TMS has great potential both as an investigational and as a therapeutical tool in Neurology and Psychiatry.

Brain Diseases↗

PubMed2003

Lifestyle factors associated with atrophic gastritis among Helicobacter pylori-seropositive Japanese-Brazilians in São Paulo.

BACKGROUND: Studies of lifestyle factors related to gastric atrophy development in Helicobacter pylori-infected individuals are limited. The present cross-sectional study aimed to examine the associations between lifestyle factors and serum pepsinogens (PGs) among anti- H. pylori antibody-seropositive Japanese in Brazil, where gastric cancer mortality was reported to be as high as in Japanese in Japan, and seropositive individuals were still frequently detected. METHODS: The subjects were 291 seropositive individuals (129 males and 162 females; age, 30 to 69 years) out of 656 Japanese-Brazilian volunteers in São Paulo city. Information on lifestyle factors was obtained using a self-administered questionnaire. Atrophic gastritis was defined as a PG1 serum level less than 70 ng/ml and PG1/PG2 ratio less than 3. RESULTS: The prevalence of atrophic gastritis was 31.9% (95% confidence intervals, 26.6%-37.6%). The proportion of subjects with atrophic gastritis increased with age, but there were no significantly marked differences in the proportions of subjects with atrophic gastritis among the three generations studied (first generation [Issei], second generation [Nisei], and third generation [Sansei]) for any 10-year age group. The associations with smoking and alcohol drinking were not significant. Length of education was inversely associated with gastric atrophy, while infrequent rice intake was preventive; the odds ratio relative to everyday rice intake was 0.13 (95% confidence intervals, 0.39-0.46) on multivariate analysis. CONCLUSIONS: The present study demonstrated that frequent rice intake was a risk factor for atrophic gastritis among the H. pylori-infected Japanese-Brazilians, suggesting that diet including rice plays a role in the step from H. pylori infection to gastric atrophy.

Adult↗