Estudo de polimorfismos em genes relacionados ao metabolismo do ácido fólico e sua associação com o desenvolvimento de fendas orais não-sindrômicas

The congenital facial clefts are characterized by incomplete formation of the structures that separate the oral and nasal cavity. It is known that several environmental and genetic factors are involved in its development, among these, polymorphisms associated with folic acid metabolism have been investigated. In this sense, the objective was to observe the frequency of polymorphisms C677T and A1298C methylenetetrahydrofolate reductase gene (MTHFR), methionine synthase A2756G of (MTR), A66G of methionine synthase reductase (MTRR) A80G and the reduced folate carrier (RFC1) in patients with non-syndromic oral clefts, trying to match them with their development. Methods: We studied 140 patients with non-syndromic oral clefts and their mothers and 175 control subjects with their mothers, who underwent a questionnaire to obtain family information. Were collecting blood for DNA extraction from patients and their mothers to identify the genotypes of both by PCRRFLP, in addition to carrying out the determination of glucose, AST, ALT and serum creatinine, folic acid and vitamin B12 Serum and plasma homocysteine, and the hemogram. Results: Most patients have cleft lip and palate (55.8%), followed by isolated cleft palate (24.2%) and cleft lip (20%). Regarding gender, 62% of patients were male and 48% female and, after subdivision of the type of screwdriver according to sex was found a prevalence of males in the cracks of the type lip and palate (69 %) and lip (69.2%) and in the case of cleft palate was a female predominance (59%). The average concentration of serum folate in the group of mothers of cleft patients was significantly lower (13.8 ± 2.4 ng / mL) compared with the group of mothers of control subjects (18.8 ± 3.4 ng / mL) This was also observed for the group of cleft children as compared to controls, the dosage of folic acid had a significant difference with values of 15.6 ± 0.6 (ng / mL) and 17.9 ± 0.6 (ng / mL), respectively. For the biochemical measurements of glucose, AST, ALT and creatinine were not statistically different, nor was observed for haematological parameters performed. In assessing the frequency of polymorphisms C677T and A1298C MTHFR, A2756G MTR, MTRR A66G and A80G of the RFC1 there was no statistically significant difference in genotype distribution between cases and controls both for mothers and in the cleft. Conclusion: Although not observed association of polymorphisms with the development of cracks, the decrease in serum folate in the group of cleft patients and their mothers may reflect a disturbance in the metabolism of this metabolite, necessitating further studies such as studies methylation and expression to further elucidate the involvement of folate in the development of oral clefts

A infecção por Leishmania infantum chagasi altera o metabolismo lipídico do hospedeiro

American visceral leishmaniasis (AVL), caused by Leishmania infantum chagasi (L.i.chagasi), stands as a public health problem in Brazil, with human and canine cases related in all states..Lipid metabolism can be modified in several status of infection. For example, experimental studies show that the cholesterol is necessary to internalization and replication of L.i.chagasi in macrophages through caveolar domains. Patients with AVL present low levels of cholesterol and a visible triglycerides increase. This work aimed to evaluate the lipid metabolism in several post-infection status by L.i.chagasi, including individuals with symptomatic infection (AVL), and asymptomatic. The levels of cholesterol, triglycerides, HDL and reactive C protein, were measured. Individuals with AVL were compared with individuals with assymptomatic infection and presented low levels of total cholesterol (128 ± 6.180 mg/dL vs. 158 ±5.733 mg/dL, p=0.0001), HDL (29 ± 1.746 mg/dL vs. 37 ± 1.647 mg/dL, p=0.0001), increased levels of triglycerides (149.5 mg/dL ± 12.72 vs. 78.00 ± 10.43 mg/dL, p=0.0095) and higher levels of reactive C protein (1.750± 0.4939 mg/dL vs. 0.40 ± 0.1707 mg/dL; p=0.0001). The expression of genes related to lipid metabolism, such as LXR-a, LXR-b, PPAR-a, PPAR-d, PPAR-g and APOE was evaluated by real time PCR. A reduction in the expression of those genes was found in the group of AVL patients corroborating the serum levels of the metabolites earlier quantified. Our findings suggest a modulation of metabolism of lipids, in the chronic phase of AVL, this could facilitate the survival of leishmania, due to the known reduction on the ability of macrophages in presenting antigens efficiently to the T cells due to the reduction in the cholesterol available, it results in a subversion of the host immunity.

Avaliação bioquímica e hostológica de fígado de ratas wistar diabéticas e tratadas com tamoxifeno

Tamoxifen (TX), a drug used in the treatment of breast cancer, may cause hepatic changes in some patients. The consequences of its use on the liver tissues of rats with or without diabetes mellitus (DM) have not been fully explored. The purpose of this multidisciplinary study was to evaluate the correlation between plasma hepatic enzyme levels and the presence of iron overload in the hepatic tissue of female Wistar rats with or without streptozotocin-induced DM and using TX. Female rats were studied in control groups: C-0 (non-drug users), C-V (sorbitol vehicle only) and C-TX (using TX). DM (diabetic non-drug users) and DM-TX (diabetics using TX) were the test groups. Sixty days after induced DM, blood samples were collected for glucose, alanine aminotransferase (ALT), aspartate aminotransferase (AST) alkaline phosphatase (ALP) and bilirubin measures. Hepatic fragments were processed and stained with hematoxylin and eosin (H&E), Masson s trichrome, Perls. The hepatic iron content was quantified by atomic absorption spectrometry. AST, ALT and ALP levels were significantly elevated in the DM and DM-TX groups, with unchanged bilirubin levels. Liver iron overload using Perls stain and atomic absorption spectrometry were observed exclusively in groups C-TX and DM-TX. There was positive correlation between AST, ALT and ALP levels and microscopic hepatic siderosis intensity in group DM-TX. In conclusion, TX administration is associated with liver siderosis in diabetic and non-diabetic rats. In addition, TX induced liver iron overload with unaltered hepatic function in 2 non-diabetic rats and may be a useful tool for investigating the biological control of iron metabolism

Alterações no metabolismo de zinco relacionadas ao envelhecimento

Although many studies point to alterations in the organic concentrations of zinc in elderly patients, the mechanisms by which aging might cause changes in the metabolism of this nutrient remain unclear. Thus, we assessed the changes in plasma zinc, Zinc Binding Capacity to Plasma Protein (ZnBCPP) and Saturation Index (SI), comparing elderly individuals and young adults. The zinc analyses were performed by atomic absorption spectrophotometry. A statistically significant difference (p < 0.001) was found between the two groups, in relation to plasma zinc and SI, but the ZnBCPP did not differ between the younger and older subjects. In agreement with this result, it was shown in the young group that 76% (R2 = 0.760) of the ZnBCPP variations are explained by the variations in plasma zinc and SI. In the elderly group this measure decreased to 30.5% (R2 = 0.305). We conclude, therefore, that aging may be a factor associated to changes in control mechanisms and in zinc homeostasis, and could even alter ZnBCPP response patterns and other zinc-related indicators of nutritional status.

Impacto da variabilidade de peso no controle matebólico de pacientes transplantados cardíacos

Heart transplantation (HT) represents one of the greatest advances in medicine over the last decades. It is indicated for patients with severe heart disease unresponsive to clinical treatment and conventional surgery, poor short-term prognosis and a 1- year mortality rate over 40%. HT has improved survival worldwide (80% in the first year, 70% in five years and 60% in ten years). However, the procedure has been associated with weight change and increased risk of secondary conditions such as diabetes, hypertension, dyslipidemia and obesity due to immunosuppressive therapy following transplantation. The objective of this study was to determine the impact of weight change on the metabolic stability of HT patients. The study was retrospective with data collected from the records of 82 adult patients (83% male; average age 45.06±12.04 years) submitted to HT between October 1997 and December 2005 at a transplantation service in Ceará (Brazil). The selected outcome variables (biopathological profile, weight and body mass index―BMI) were related to biochemical and metabolic change. The results were expressed in terms of frequency, measures of central tendency, Student s t test and Pearson s correlation coefficients. The analysis showed that following HT the average global BMI increased from 23.77±3.68kg/m2 to 25.48±3.92kg/m2 in the first year and to 28.38±4.97kg/m2 in the fifth. Overweight/obese patients (BMI ≥ 25 kg/m2) had higher average levels of glucose, total cholesterol, low-density lipoprotein and triglycerides than patients with eutrophy/malnutrition (BMI < 25 kg/m2). In conclusion, overweight/obese patients were likely to present higher average levels of glucose, triglycerides, total cholesterol and fractions than patients with eutrophy/malnutrition, indicating a direct and significant relation between nutritional status and weight change in the metabolic profile of HT patients

Consequências da colectomia associada à hepatectomia no metabolismo hepático e na forma e função de hemácias em ratos

This study investigated the influence of partial colectomy associated with hepatectomy on the biodistribution of the 99mTc-phytate, on metabolic parameters, as well as labeling and morphology of red blood cells. Wistar rats were distributed into three groups (each with 6), nominated as colectomy, colectomy+hepatectomy and sham. In the 30th postoperative day all rats were injected with 99mTc-phytate 0.1mL i.v. (radioactivity 0.66 MBq). After 15 minutes, liver sample was harvested and weighed. Percentage radioactivity per gram of tissue (%ATI/g) was determined using an automatic gamma-counter. Serum AST, ALT, alkaline phosphatase and red blood cells labeling were determined. The liver %ATI/g and red blood cells labeling were lower in colectomy and colectomy+hepatectomy rats than in sham rats (p <0.05), and no difference was detected comparing the colectomy and colectomy+hepatectomy groups. Red blood cells morphology did not differ among groups. Serum levels of AST, ALT and alkaline fosfatase were significantly higher in colectomy+hepatectomy than in colectomy rats (p<0.001). Hepatectomy associated with colectomy lowered the uptake of radiopharmaceutical in liver and in red blood cells in rats, coinciding with changes in liver enzymatic activity

Análise das mutações C282Y e H63D no gene da proteína HFE em pacientes com hiperferritinemia

Hereditary Hemochromatosis (HH) is a genetic disease caused by high iron absorption and deposition in several organs. This accumulation results in clinical disturbances such as cirrhosis, arthritis, cardiopathies, diabetes, sexual disorders and skin darkening. The H63D and C282Y mutations are well defined in the hemochromatosis etiology. The aim of this paper was that of identifying the H63D and C282Y genetical mutations in the hemochromatosis gene and the frequency assessment of these mutations in the HFE protein gene in patients with hyperferritin which are sent to the DNA Center laboratory in Natal, state of Rio Grande do Norte. This paper also evaluates the HH H63D and C282Y gene mutations genotype correlation with the serum ferritin concentration, glucose, alanine aminotransferasis, aspartato aminotransferasis, gama glutamil transferasis and with the clinical complications and also the interrelation with life habits including alcoholism and iron overload. The biochemical dosages and molecule analyses are done respectively by the enzymatic method and PCR with enzymatic restriction. Out of the 183 patients investigated, 51,4% showed no mutation and 48,6% showed some type of mutation: 5,0% were C282Y heterozygous mutation; 1,1%, C282Y homozygous mutation; 31%, H63D heterozygous mutation; 8,7%, H63D homozygous mutation; and 3,3%, heterozygous for the mutation in both genes. As to gender, we observed a greater percentage of cases with molecular alteration in men in relation to women in the two evaluated mutations. The individuals with negative results showed clinical and lab signs which indicate hemochromatosis that other genes could be involved in the iron metabolism. Due to the high prevalence of hemochromatosis and taking into account that hemochromatosis is considered a public health matter, its gravity being preventable and the loss treatment toxicity, the early genetic diagnosis is indicated, especially in patients with high ferritin, and this way it avoids serious clinical manifestations and increases patients' life expectation. Our findings show the importance of doing such genetic studies in individuals suspected of hereditary hemochromatosis due to the high incidence of such a hereditary disease in our region

FERRITINA: intervalos de referência para adultos no Estado do Rio Grande do Norte

Ferritin is a protein composed of heavy and light chains, non-covalently linked and which accommodates, in its core, thousands of atoms of iron. Furthermore, this protein represents the stock of iron in the body and it is characterized as an acute marker and predictor of diseases, such as iron deficiency anemia, hereditary hemochromatosis and others. Considering the variability of reference values and the analytical methods currently available, the aim of this work was to propose 95% confidence intervals for adults in the State of Rio Grande do Norte, Brazil, after determining the average concentration of serum ferritin for both sexes, beyond its correlation with the age. We analyzed 385 blood samples, collected by venipuncture from individuals residing in the State, after 12-14 hours of fast. The populational sample had 169 men and 216 women between 18-59 years old, which filled a questionnaire on socioeconomic, food habits and accounts about previous and current diseases. The sample collections were itinerant and the results of erythrogram, fasting glucose, alanine aminotransferase, aspartate aminotransferase, γ-glutamyl transferase, urea, creatinine, leukocyte count and platelets, beyond C-reactive protein, were issued to each participant, so that, after selection of the apparently healthy individuals, the dosage of serum ferritin was carried out. Statistical analysis was performed using the softwares SPSS 11.0 Windows version, Epi Info 3.3.2 and Graf instant pad (version 3.02), and the random population sample was single (finite population), for which the test of linear correlation and diagram of dispersion were also made. After selection of individuals and determination of serum ferritin, the most discrepant outliers were disregarded (N = 358, Men = 154/Women = 207) and the average value determined for the masculine sex individuals was 167,18 ng / dL; for the feminine sex individuals, the average value obtained was 81,55 ng / dL. Moreover, we found that 25% of men had values < 90,30 ng / dL; 50% ≤ 156,25 ng / dL and 75% ≤ 229,00 ng / dL. In the group of women, 25% had values < 38,80 ng / dL; 50% ≤ 65,00 ng / dL and 75% ≤ 119,00 ng / dL. Through the correlation coefficient (r = 0,23 with p = 0,003), it is possible to suggest the existence of positive linear correlation between age and serum ferritin for men. The correlation coefficient for women (r = 0,16 with p = 0,025) also confirms the existence of positive linear correlation between serum ferritin and age. Considering the analysis carried out and specific methods corroborating with the proposed benchmarks, we concluded that the average value found for men is higher than that found for women. Furthermore, this scenario rises with age for both sexes, and the 95% confidence intervals obtained were 74 ng/dL ≤ μ ≤ 89 ng/dL and 152ng/dL ≤ μ ≤183ng/dL for the feminine and masculine sex individuals respectively

Osteopenia diabética e pós-menopausa: efeito metabólico do zinco na recuperação do volume ósseo trabecular

Diabetes mellitus has been associated with bone metabolism alterations, such as osteopenia and osteporosis. So, the search of new anabolic agents promote bone mass gain can be important to prevent osteoporosis. The aim of this study was evaluate zinc anabolic effect over bone in diabetic and post-menopausal osteopenic models. Diabetes was induced by STZ (45mg/Kg of body weight) administration and post-menopausal by bilateral ovariectomy. Adults female Wistar rats (n=65) were divided in 5 groups: control group (n=15), ovariectomized without (n=15) and with zinc supplementation (n=10) groups, diabetic and ovarioctomized without (n=15) and with zinc supplementation (n=10) groups. Studied periods had been untill 90 days. Diabetic condition was confirmed hiperglicemic state and alterations of state with polyuria, polyphagia, polydipsia and glucosuria. Histomorphometric analysis showed that zinc supplementation increased trabecular thickness and reduced trabecular distance significantly in diabetic groups with similar values to those showed in control group. Correlation analysis of histomorphometric parameters with serum glucose concentration showed that more time in hyperglycemia more bone damage, as well as, zinc supplementation contributed to prevent this damage. Elevated serum glucose caused hyperzincuria, phosphaturia and calciuria. Zinc supplementation promoted increased levels of calcium and phosphorous ions in 90th days diabetic group. No alteration was observed by ovariectomy in mineral (Ca, P and Zn) serum and urine concentrations. Total serum Alkaline Phosphatase activity increased in diabetic groups, supplemented or not, compared with control group. However, Tartarate-Resistant Acid Phosphatase, magnesium and serum zinc did not altered in studied groups. Serum albumin was reduced only in diabetic groups. Serum creatinine was unaltered. These results support the hypotesis that zinc can be used to prevent and treat diabetic and post-menopausal osteopenia

Influência do tratamento com ácido lipoico sobre o metabolismo ósseo e perfil antioxidante de mulheres na perimenopausa

Bone is a dynamic tissue that is in constant process of remodeling in response to mechanical stress and hormonal changes. This study aimed to understand the relationship between the biochemical changes, which women in the menopausal transition are subject to, and how the use of an alternative therapy with lipoic acid (LA) could influence these changes. The study of double-blind, was carried out in perimenopausal women that underwent a three month treatment with 600 mg of AL compared with another group that received placebo during the same period. This study showed that women had a waist circunference and body mass index above the values recommended by WHO (WC ≥ 80 cm; BMI > 25kg/m2). Associated with this, these women had increased concentrations of total cholesterol and triglycerides, and borderline LDL (Total Cholesterol > 200mg/dL; Triglycerides > 150mg/dL; LDL >130mg/dL). These changes were not affected by treatment with AL. There were no shifts in liver profile (ALT, AST and GGT), kidney profile (urea, creatinine, total protein and albumin), mineral profile (Total Calcium, Ionized Calcium, Phosphorus and Magnesium) as well in bone markers (osteocalcin, Total Alkaline Phosphatase and Tartrate Resistant Acid Phosphatase) after treatment with LA. The results of the oxidative profile showed that treatment with LA decreased GPx activity (p < 0,01), while for the TBARS, GSH and SOD activity there were no differences. With regard to SOD, this enzyme will submit to be high in the placebo group after 3 months of study (p<0,05). The expression of RANKL mRNA was reduced (p < 0,05) and of RANK increased (p <0.001), after treatment with LA, while the expression of IL-6 and TNF-ɑ genes were no changed. We conclude that women already in the perimenopause stage have changes in lipid profile and body composition that could induce shifts in oxidative and bone metabolism. However, LA treatment has provided an effective effect in the oxidative and bone profile since the earliest markers such as GPx activity and mRNA expression of RANKL, respectively, were reduced associated with no change in SOD activity. These results suggest a beneficial and protective effect of LA, indicating it potential as an alternative treatment to help the to prevent the complications associated with estrogen deficiency

Atenção à saúde mental na Estratégia Saúde da Família no Município de Parnamirim/RN: opinião dos profissionais, dos portadores de transtornos mentais e seus acompanhantes

This study aims to analyze and compare the opinion of professionals, managers and users about the mental health care in the Family Health Strategy (FHS). It is characterized as an Operations Research or Health System Research with a cross-sectional design and a descriptive quantitative nature. The study was developed from the application of the Opinion Measurement Scale allied to techniques of observation and structured interview in the city of Parnamirim / RN. The sample consists of 409 subjects, 209 professionals of the Family Health Strategy, 30 of the Oral Health Strategy, 19 of the Family Health Support Center, 24 directors of Basic Health Units, plus 68 users with mental disorders and 59 caregivers, respecting the ethical parameters of Resolution 196/96 of the National Health Council, trial registration number: CAAE 0003.0.051.000-11. Quantitative data were submitted to the Epi-info 3.5.2 for analysis. The network of mental health in Parnamirim involves the flow between the FHS, Psychosocial Care Centers, clinics and hospitals, having as main barriers the fragility of the referral and counter-referral system, of the municipal health conferences, of the FHS teams by the limitations in material and human resources as well as the population´s lack of acknowledge about the organization of the mental health network, issues that affect the integral attention. Even though the FHS professionals recognize the importance of their actions, they question their role in mental health care, experiencing difficulties in accessing psychiatric services (76.5%). Although most agree that the mentally ill is best treated in the family than in hospital (65.2%), the community health workers were the predominant category in the partial or total disagreement of this statement (40.8%), who is the professional in greater contact with the family. Nevertheless the caregivers miss the support of the FHS as the main focus of attention is on revenue control. The views of professionals, mental patients and caregivers converged in several statements, showing the main weaknesses to be focused by the mental health network of the city, as the perceptions that: (a) physical strength is needed to take care of mental patients for its tendency to aggression, requiring it to stay in the sanatorium for representing danger to society, (b) only a psychiatrist can help the person with emotional problems, (c) the user of alcohol and drugs does not necessarily develop mental illness, (d) the access barriers and doubts about the quality of psychiatric services, (e) caring of a mental health patient does not bring suffering to professionals. Therefore, the commitment to consensus building, monitoring and evaluation of the network are important mechanisms for an effective management system, reflecting in the importance of strengthening the health conferences and approximating different institutions. The results reinforce the importance of strengthening primary care through programs of continuing education focusing on the actions and functions of professionals in accordance with its competences and duties what contribute to the organization and response of mental health care, favoring user´s care and the promotion of family health

O efeito da dessincronização circadiana sobre o metabolismo

The lost of phase relationship between rhythms and behaviour can, and often do, undesirable consequences. The purpose os study was to ascertain the effect of circadian desynchronization in T22 about metabolism of wistar rats. The subjects consisted of 24 animals separated in two groups: control (n=12) T24 with 8 weeks of aged and experimental group (n=12) T22, also with 8 weeks of aged. Both the groups were subject to register of locomotor actitivity, body temperature, body weight and food intake in all the experiment. And more, both the groups were subject to food deprivation, running in treadmill and forced swimming. The results show rhythm of locomotor activity and body temperature desynchronized. Dont exist diference in body weight between both the groups (T24 = 386,75±40,78g e T22 380,83±44,28g) . However, the food intake was different between the phases, light and dark, in intergroup and intragroup. The body temperature was not different in food deprivation. The same ocurred for running in treadmill and forced swimming. Since similar alterations occur in shift workers, it is proposed that the experimental paradigm presented in this manuscript is a useful model of shift work. That is, alterations in activity/rest cycles and consummatory behavior can affect the health of organism

Indicadores de transtornos de estresse pós-traumático em bombeiros militares

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