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Background: Glioma, most common primary malignant brain tumor in adults, is highly aggressive and associated with a poor prognosis. Evaluate the association of polymorphisms related of to the cell cycle, integrity and DNA repair with gliomas, as well as lifestyle habits, comorbidities, survival and response to treatment. Methods: Were studied 303 individuals distributed into: Study Group - 100 patients with gliomas, regardless of the degree of malignancy, and Control Group - 203 individuals without clinical signs of the disease. These polymorphisms were genotyped by TaqMan® SNP Genotyping Assay. Significance level was set at 5%. Results: Smoking, alcohol consumption, systemic arterial hypertension (SAH) and diabetes mellitus (DM) prevailed in patients, compared to controls (P=0.0088, P=0.0001, P=0.0001, P=0.0011, respectively). In the logistic regression analysis, alcohol consumption and SAH were identified as independent risk factors for gliomas (P=0.0001, P=0.0027, respectively). Patients with low-grade gliomas showed survival in one year (92.0±6.8%), compared to patients with high-grade gliomas (24.0±5.3; P=0.011). Conclusion: Polymorphisms involved in cell cycle, telomere protection and stability and DNA repair are not associated with gliomas. On the other hand, alcohol consumption and SAH stand out as independent risk factors for the disease. Low-grade gliomas, response to treatment and the combination of chemotherapy with Temozolomide and radiation therapy show increased survival of patients. more...

Gráficos de recorrência (GR) têm sido utilizados para avaliar sistemas dinâmicos complexos, sendo o corpo humano um excelente modelo. Foram analisados ​​os elementos quantitativos e qualitativos do GR na diferenciação de Saúde, Doença e Morte. Séries temporais de batimentos cardíacos normais foram coletadas em recém-nascidos saudáveis ​​(Grupo A1), crianças saudáveis ​​(Grupo A2), adultos jovens saudáveis ​​(Grupo A3), adultos saudáveis ​​de meia-idade (Grupo A4), idosos residentes em casas de repouso (Grupo B), indivíduos com doença renal crônica avançada (Grupo C) e indivíduos com morte encefálica declarada ou em estado de morte iminente (Grupo D). O grupo A3 apresentou a melhor homeostase (menor recorrência). Os grupos A1 e D apresentaram os maiores valores de recorrência. Em termos visuais qualitativos, o Grupo A3 apresentou distribuição mais difusa e uniforme, um indicativo de melhor homeostase e o Grupo D foi totalmente linear, a pior condição. Um padrão parabólico foi claramente evidenciado. Em conclusão, foi possível, utilizando a correlação de apenas duas variáveis ​​(SDNN e TT), diferenciar tanto de modo quantitativo como qualitativo os estados de Saúde, Doença e Morte usando GR. more...

Bipolar Disorder (BD) has been associated with autonomic nervous system (ANS) dysregulation, with a consequent increase in mortality. Recent work highlights the non-linear analysis of ANS function. Our objective was to compare ANS modulation using recurrence plots (RP) and symbolic analysis (SA) in manic and euthymic phases of BD to controls.- Eighteen male patients (33.1 ± 12.0 years) were assessed during mania and at discharge in the euthymic phase compared and to a healthy group matched by age (33.9 ± 10.8 years). Electrocardiographic series (1000 RR intervals, at rest, in supine position) were captured using Polar Advantage RS800CX equipment and Heart Rate Variability (HRV) was analysed using RP and SA. Statistical analysis was performed using ANOVA with Tukey's post-test. The threshold for statistical significance was set at P0.05 and Cohen's d effect size was also quantified considering d0.8 as an important effect. The study was registered into the Clinical Trials Registration (ClinicalTrials.gov: NCT01272518).Manic group presented significantly higher linearity before treatment (P0.05) compared to controls considering RP variables. Cohen's d values had a large effect size ranging from 0.888 to 1.227. In the manic phase, SA showed predominance of the sympathetic component (OV%) with reduction of the parasympathetic component (2LV% and 2UV%) with reversion post treatment including higher Shannon Entropy (SE) indicating higher complexity.- short follow-up (1 month) and small number of patients.- Non-linear analyzes may be used as supplementary tools for understanding autonomic function in BD during mania and after drug treatment. more...

The pathophysiological mechanism of resistant hypertension (RH) is related to increased vascular smooth muscle tone and blood volume, exacerbation of the activity of the sympathetic system and hyperactivity of the renin-angiotensin-aldosterone system (RAAS), all of which are important regulatory mechanisms of blood pressure. Hypertension is associated with reduced endothelial homeostasis, and thus the best treatment would not only reduce blood pressure but also reverse endothelial injury. RH is associated with more serious vascular dysfunction, assessed by endothelium-dependent vasodilation and the presence of serum biomarkers. Arterial stiffness also constitutes an important independent factor that can determine risk of cardiovascular events in patients with RH; it is an important indicator of vascular changes, and is associated with cardiovascular mortality. Arterial stiffness can be assessed by 3 measures: central blood pressure, augmentation index (AIx) and pulse wave velocity (PWV). PWV is a recognized as main marker of the severity of vascular injury. The increase in central blood pressure caused by backward (reflected) waves can be evaluated as an index derived from an analysis of the central aortic blood pressure curve known as the AIx, and depends on the magnitude and time of the reflected waves and indirectly on heart frequency and arterial stiffness. The evaluation of patients with RH is focused on the identification of causes of hypertension guided by the clinical features of hypertension and metabolic, vascular, endocrine and family history. more...

INTRODUCTION: The increase in the world’s elderly population in recent decades calls for research on quality of life during the aging process. Heart rate variability (HRV) evaluates the modulation of the autonomic nervous system (ANS) and indicates the heart’s ability to respond to multiple physiological and environmental stimuli, as well as to disease. OBJECTIVE: To investigate the perceived quality of life of older people and its association with HRV. METHOD: Twenty-nine subjects (69 ± 7.76 years) were selected at a preventive medicine center and completed a questionnaire (World Health Organization quality of life assessment — old module: WHOQOL-OLD). The HRV data were collected for 20 minutes in the supine position using a Polar RS800CX frequency meter. RESULTS: Using the median value as a cut-off point, the sample was divided into two groups: WHOQOL-OLD ≥ 92 (n = 15: better quality of life) and WHOQOL-OLD ≤ 91 (n = 13; lower quality of life). For the HRV time-domain variables RMSSD and pNN50, there were higher values in the WHOQOL-OLD ≥ 92 group (p = 0.0413 and p = 0.0222, respectively). For the frequency-domain variables, low-frequency (LF), high-frequency (HF) and Total Power, there were also higher values in the WHOQOL-OLD group ≥ 92 (p = 0.0195, p = 0.0170 and p = 0.0287, respectively). The non-linear variable SD1 was significantly higher in the WHOQOL-OLD ≥ 92 group (p = 0.0413), while DET% was significantly higher in the WHOQOL-OLD ≤ 91 group (p = 0.0253). CONCLUSIONS: Better quality of life in older adults is associated with normal ANS function, represented by higher values found through three HRV analysis methods. This indicates the importance of a healthy lifestyle for healthy aging, which includes improvement in autonomic function and, consequently, quality of life. more...

Introduction The pathogenesis of Parkinson’s disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in thealpha-synucleingene (SNCA).Objective To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD).Method A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping ofSNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05.Results Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence ofSNCA-A53T mutation was observed in all individuals.Conclusion SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population. more...

Background: Quinoa (Chenopodium quinoa Willd) is a gluten-free pseudocereal with high biological value protein, low glycemic carbohydrates, phytosterols and omega-3 and omega-6 fatty acids. It originated in the Andean region and has been consumed for thousands of years. Our objective was to assess blood cholesterol levels in coronary heart disease (CHD) patients in an outpatient clinic after the intake of processed quinoa seeds. Methods: This is a prospective study with twenty-seven patients, aged between 48 and 70 years (64.0 ± 8.4 yo), who were treated during 120 to 200 days. Blood samples were collected before and after the intake of quinoa seeds to determine the lipid profile of the group. Results: The results showed beneficial effects of the intake of quinoa with a significant reduction in total cholesterol (P=0.0008), triglycerides (P=0.001) and LDLc (P=0.008). Conclusions: The incorporation of quinoa in the eating routine can be considered beneficial in the prevention and control of risk factors for cardiovascular diseases, considered the major causes of death worldwide.Read Complete Article at ijSciences: V72018021572 AND DOI: http://dx.doi.org/10.18483/ijSci.1572 more...

Bipolar Disorder (BD) is characterized by the occurrence of mania alternating with euthymia. The aim of the present study was to investigate the impact of BD on the autonomic nervous system, as indicated by heart rate variability (HRV). The study was registered in the Clinical Trials Registration ( NCT01272518 ). Nineteen hospitalized, male patients (age: 34.0 ± 12.3 years) with type I BD were assessed during mania and at discharge on euthymia. HRV data were collected during 20- minutes in supine position at rest, on spontaneous breathing, using the Polar RS 800 CX frequencymeter. HRV measures included variables in time, frequency and non-linear domains. Psychiatric conditions were evaluated by the Mini International Neuropsychiatric Interview (MINI) and the Bech-Rafaelsen mania scale (BRMS). Time domain measures of RMSSD (Cohen's d = 0.668) and pNN50 (Cohen's d = 0.688) increased from first to second assessments. The high-frequency component (HFms2) also increased (Cohen's d = 0.586), while the LF/HF ratio decreased (Cohen's d = 0.785). Non-linear domain measures including the SD1 component (Cohen's d = 0.668), and the SD1/SD2 ratio (Cohen's d = 1.2934) extracted from the Poincare plot analysis increased from first to second assessment. The variables Lmean (Cohen's d = 0.9627), Lmax (Cohen's d = 1.2164), REC% (Cohen's d = 1.0595) and EntShannon (Cohen's d = 1.0607) were higher in mania. By contrast, ApEn (Cohen's d = 0.995) and EntSample (Cohen's d = 1.189) were less during mania, all reflecting ANS improvement. Findings are interpreted in the context of recently published models relating to neurovisceral integration across the continuum of time, and the implications for the future health and wellbeing of patients are considered. more...

Background Prematurity and its respective comorbidities may result in longer periods of mechanical ventilation in intensive care units (ICU). A method for the assessment of organic maturity would be useful for this population. Heart rate variability (HRV), as an indicator of homeostasis, is a well-established tool for this approach. The objective of the study was to assess HRV in intubated preterm infants in ICU immediately prior to extubation and correlate HRV with clinical evaluation outcomes. Methods A total of 46 preterm infants, 13 (28.2%) males, were prospectively studied and divided into a group with failed extubation (FEG: n=11) and a group with successful extubation (SEG: n=35). HRV was evaluated in time, frequency and nonlinear domains with a Polar RS800 device. HRV measurements were assessed with Kubios HRV Premium Software and statistically analyzed with the StatsDirect Statistical Software, version 1.9.2015 (2002). P Results There were no significant differences between heart rate variables of failed and successful extubation when analyzing the total group. However, the analysis of the sub-group of preterm infants weighing less than 1000 g showed a clear differentiation between the groups, when the nonlinear variables (approximate entropy, sample entropy and multiscale entropy 1, 2 and 3) were used, demonstrating that the group with successful extubation shows greater complexity and, therefore, relatively greater autonomic stability. Conclusion HRV was effective in predicting failed extubation in preterm infants when evaluated in a nonlinear domain and in preterm infants weighing less than 1000 g. more...

Genetic and environmental factors affect the pathogenesis of Parkinson's disease (PD). Genetic variants of the enzyme glutathione S-transferases (GST) may be related to the disease. This study aimed to evaluate the influence of genetic variants of GST (GSTT1/GSTM1) and their association with the exposure to environmental toxins in PD patients. We studied 254 patients with PD and 169 controls. The GSTM1/GSTT1 variants were analyzed by polymerase chain reaction. We applied the Fisher's exact test and the χ2 test for statistical analysis (p more...

Background: Recent evidence suggests the existence of an underlying inflammation process to vascular disease associated with chronic high blood pressure (BP), playing an important role in the pathophysiology of hypertension (HT). However, few studies show the participation of the inflammatory process in the pathophysiology of acute BP elevation. Objectives: To identify clinical and metabolic profile of presentation of hypertensive crisis (HC) divided into hypertensive urgency (HUrg) and emergency (HEmerg); 2 - To assess the involvement of inflammatory cytokines: IL-1β, IL-6, IL-8, IL-18, TNF-α and anti-inflammatory IL-10 in subjects with HC. Methods: We studied 274 individuals: 74 normotensive (NT), 74 controlled hypertensive (CHT), 50 HUrg and 78 HEmerg. Serum levels of cytokines were made by MULTIPLEX and ELISA techniques. Analysis of variance was used to compare the groups, with significant p-value Results: The diastolic BP and heart rate were greater in the HC group (120mmHg and 85bpm, respectively) compared to the CHT group (75mmHg and 68 bpm, respectively; p Conclusions: The levels of inflammatory cytokines (IL-1β, IL-6, IL-8 and IL-18) and anti-inflammatory (IL-10) are higher in HUrg and HEmerg groups compared to NT and CHT groups. This suggests the involvement of inflammatory cytokines in the pathogenesis of acute hypertensive event. more...

The manifestation of cholelithiasis after bariatric surgery may depend on genetic factors related to lipid metabolism, including apolipoprotein E (APOE) and cholesteryl ester transfer protein (CETP) gene polymorphisms.We investigated the association between APOE HhaI and CETP TaqIB polymorphisms [PCR-RFLP] and occurrence of cholelithiasis over up to 8 months of follow-up after gastroplasty to Roux-en-Y gastric bypass in 220 patients distributed in Group 1 (G1) 114 with cholelithiasis postoperatively and Group 2 (G2) 106 without cholelithiasis, including biochemical and anthropometric profiles analyses.In our series, the allelic and genotypic distributions of CETP TaqIB and APOE HhaI polymorphisms were similar in both groups (P 0.05). The subgroup analysis evidenced that 54% of the patients from G1, APOE*4 allele carriers compared with APOE*3/3 carriers, presented altered low-density lipoprotein cholesterol (LDL cholesterol) serum levels (P = 0.022) before bariatric surgery. The B1 allele for CETP was associated to more quickly elevation of HDL cholesterol levels just in individuals without cholelitiasis (P 0.0001). The multivariate logistic regression analysis demonstrates correlation between APOE*4 allele, higher total cholesterol (TC) serum levels and prediposition to cholelitiasis in preoperative period. However, the presence of postoperative cholelithiasis was not associated with altered lipid profile.The CETP TaqIB and APOE HhaI polymorphisms do not seem to have association with gallstones in the late postoperative bariatric surgery, considering that these genetic variants do not differ subgroups of patients who are eligible to routine prophylactic cholecystectomy, at least in Brazilian population. more...

We evaluated the influence of the vascular endothelial growth factor (VEGF) -C936T polymorphism on prognosis of hepatocellular carcinoma (HCC), cirrhosis, and hepatitis C virus (HCV) infection. Serum VEGF and alpha-fetoprotein (AFP) levels were determined and used to characterize sensitivity and specificity. A total of 285 subjects were studied: 68 HCC, 118 cirrhosis, 43 HCV, and 56 healthy controls. Prevalence of the VEGF -C936T polymorphism and serum levels of VEGF and AFP were analyzed by polymerase chain reaction-restriction fragment length polymorphism and enzyme-linked immunosorbent assay, respectively. The genotype CC (frequencies between 63.24 and 76.79%; P > 0.05) and the C allele (absolute frequencies from 0.816 to 0.884, P > 0.05) were prevalent in all groups. Higher VEGF levels in HCC patients (588.0 ± 501.0 pg/mL) were observed, particularly in patients with the T allele in VEGF -C936T (764.4 ± 571.7 pg/mL) compared to those in the other groups (P < 0.05). The same trend occurred with AFP levels (HCC = 8.522 ± 23.830; cirrhosis = 12.7 ± 59.3; HCV = 4.6 ± 4.7; control = 2.7 ± 1.8 ng/mL; P = 0.005). Levels of VEGF and AFP showed sensitivity of 65 and 28% and specificity of 85 and 99%, respectively, for HCC patients. In conclusion, the VEGF -C936T polymorphism is not associated with HCC but the mutant allele (T) increases VEGF levels in HCC patients. VEGF could be a potential biomarker for HCC, while AFP could be used to distinguish between patients with HCC and cirrhosis or HCV. more...

Background/Aim: We studied the molecular pathogenesis of obesity, involving complex interactions between environmental and genetic factors, with a focus on the leptin gene. It was our aim to characterize the LEP -2548G>A leptin polymorphism and lipid profile in obese and normal-weight individuals. Methods: A total of 212 individuals were divided into the study group including 136 obese patients (body mass index, BMI ≥30) and the control group with 76 normal-weight individuals (BMI >18.5 and ≤24.9). DNA was amplified by polymerase chain reaction and restriction fragment length polymorphism. The lipid profile was analyzed by enzymatic colorimetric methods. The level of significance was set at p < 0.05. Results: There was a prevalence of the GA genotype in both groups. However, comparative group analysis showed an association of the recessive model (AA+GA) with increased triglycerides (TG) and decreased high-density lipoprotein cholesterol (HDL-C) levels in the study group. Conclusion: This study did not confirm an association between obesity and the LEP -2548G>A polymorphism. However, AA+GA genotypes, in the presence of obesity, seem to contribute to a reduction in HDL-C and an increase in TG compared with normal-weight individuals. This should be confirmed in further studies. more...

ObjectiveThis study aimed to analyze the frequency of GSTP1-Alw26I polymorphism and to estimate its association with toxic substances in Parkinson's disease (PD).MethodsA study group with 154 patients - subdivided into familial and sporadic PD groups - and 158 elderly individuals without the disease (control group) were evaluated. GSTP1-Alw26I polymorphism was analyzed by polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP).ResultsPatients were significantly more exposed to pesticides compared with the control group (p=0.0004), and the heterozygote genotype associated to exposure to pesticides also prevailed in patients (p=0.0001). Wild homozygote genotype was related to tobacco use (p=0.043) and alcoholism (p=0.033) in familial PD patients.ConclusionExposure to pesticides is associated to PD, whose effect can be enhanced when combined with the heterozygote genotype of GSTP1-Alw26I. Also, large genetic and environmental studies considering tobacco use, alcoholism, GSTP1 and PD are necessary to confirm our findings. ObjetivoAnalisar a frequência do polimorfismo GSTP1-Alw26I, assim como estimar sua associação com substâncias tóxicas na doença de Parkinson (DP).MétodosA casuística avaliada foi composta por um grupo de estudo, com 154 pacientes, subdivididos em DP familial e esporádica, e outro com 158 idosos sem a doença (grupo controle). O polimorfismo GSTP1-Alw26I foi analisado por reação em cadeia da polimerase/polimorfismo de comprimento do fragmento de restrição (PCR/RFLP).ResultadosOs pacientes foram significativamente mais expostos a pesticidas, comparados com o grupo controle (p=0,0004), e o genótipo heterozigoto associado a exposição a pesticidas também prevaleceu nos pacientes (p=0,0001). O genótipo homozigoto selvagem apresentou relação com tabagismo (p=0,043) e etilismo (p=0,033) em pacientes com DP familial. Desse modo, a exposição a pesticidas está associada à DP, cujo efeito pode ser potencializado quando combinado ao genótipo heterozigoto de GSTP1-Alw26I. Estudos genético-ambientais envolvendo tabagismo, etilismo, GSTP1 e DP devem ser realizados em casuísticas numerosas, confirmando essa associação. more...

The pathogenesis of Parkinson's disease (PD) seems to involve genetic susceptibility to neurodegeneration.APOEgene has been considered a risk factor for PD. This study aimed to evaluate the association ofAPOEpolymorphism with PD and its influence on lipid profile. We studied 232 PD patients (PD) and 169 individuals without the disease. The studied polymorphism was analyzed by PCR/RFLP. The Fisher's exact test, chi-square, ANOVA, andt-test (P<0.05) were applied. TheAPOE3/3genotype was prevalent in PD patients and Controls (P=0.713) followed byAPOE3/4(P=0.772). Both groups showed recommended values for lipid profile, with increase in the values of total cholesterol and LDLc, as well as decreased values of triglycerides in PD patients compared with Controls (P<0.05for all of them). Increased levels of HDLc, in PD patients, were associated with theAPOE3/3versusAPOE-/4genotypes (P=0.012). TheAPOEpolymorphism does not distinguish PD patients from Controls, as opposed to the lipid profile alone or in association withAPOE. Furthermore, a relationship between increase of HDLc levels andAPOE3in homozygous was found in PD patients only. more...

Background Glioma, the most common primary malignant brain tumor in adults, is highly aggressive and associated with a poor prognosis. The objectives of this study were to evaluate the association of genetic polymorphisms related to angiogenesis and apoptosis with gliomas, as well as comorbidities, lifestyle, clinical profile, survival and response to treatment (temozolomide [TMZ] and radiotherapy [RT]) in patients with the disease. Methods In a total of 303 individuals, genotypes were performed by real-time PCR, and clinical data, lifestyle and comorbidities were obtained from medical records and questionnaires. The significance level was set at 5%. Results Smoking, alcohol consumption, systemic arterial hypertension, diabetes mellitus and body mass index prevailed among patients, compared to controls (p < 0.05). The heterozygous genotype rs1468727 (T/C) and the homozygous genotype rs2010963 (G/G) (p > 0.05) were observed in both groups. Lifestyle and comorbidities showed independent risk factors for the disease (p < 0.0001, p = 0.0069, p = 0.0394, respectively). Patients with low-grade gliomas had a survival rate of 80.0 ± 1.7% in three years. For the combination of TMZ+RT, survival was 78.7 ± 7.6% in 20 months, compared to TMZ only (21.9 ± 5.1%, p = 0.8711). Conclusions Genetic variants were not associated with gliomas. Specific lifestyle habits and comorbidities stood out as independent risk factors for the disease. Low-grade gliomas showed an increase in patient survival with TMZ+RT treatment. RESUMO Introdução Glioma, tumor cerebral maligno, é altamente agressivo e associado a mau prognóstico. Os objetivos deste estudo foram avaliar a associação de polimorfismos genéticos relacionados a angiogênese e apoptose em pacientes com glioma, bem como suas comorbidades, hábitos de vida, perfil clínico, sobrevida e resposta ao tratamento (temozolomida [TMZ] e radioterapia [RT]). Métodos 303 indivíduos foram genotipados por PCR em tempo real, e foram coletados dados clínicos, hábitos de vida e comorbidades. Admitiu-se nível de significância para valor p < 0,05. Resultados Tabagismo, elitismo, hipertensão arterial sistêmica, diabetes mellitus e índice de massa corporal prevaleceram entre os pacientes, comprados aos controles (p < 0,05). O genótipo heterozigoto rs1468727 (T/C) e homozigoto rs2010963 (G/G) (p > 0,05) foram observados em ambos os grupos. Tabagismo, elitismo, hipertensão arterial sistêmica, diabetes mellitus e índice de massa corporal apresentaram fatores de risco independentes para a doença (p < 0.0001, p = 0.0069, p = 0.0394, respectivamente). Os pacientes com gliomas de baixo grau apresentaram sobrevida de 80,0 ± 1,7% em três anos. Para a combinação de RT e TMZ, a sobrevida foi de 78,7±7,6% em 20 meses, em comparação com TMZ (21,9 ± 5,1%, p = 0,8711). Conclusões As variantes genéticas não estiveram associadas aos gliomas. Hábitos de vida e comorbidades específicas destacaram-se como fatores de risco independentes para a doença. O tratamento com TMZ + RT mostrou aumento na sobrevida dos pacientes. more...