Meta-analysis of Methylenetetrahydrofolate reductase maternal gene in Down syndrome: increased susceptibility in women carriers of the MTHFR 677T allele.

Because a number of data studies include some controversial results about Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and Down syndrome (DS), we performed a meta-analysis to determine a more precise estimation of this association. Studies were searched on PubMed, EMBASE and Lilacs-Scielo, up to April 2013, and they were eligible if they included case mothers (DSM) that have gave birth to children with DS, and controls mothers (CM) that have gave birth to healthy children without chromosomal abnormality, syndrome or malformation. The combined odds ratio with 95% confidence intervals was calculated by fixed or random effects models to assess the strength of associations. Potential sources of heterogeneity between studies were evaluated using Q test and the I(2). Publication bias was estimated using Begg's test and Egger's linear regression test. Sensitivity analyses were performed by using allelic, dominant, recessive and codominant genetic models, Hardy-Weinberg equilibrium (HWE) and ethnicity. Twenty-two studies with 2,223 DSM and 2,807 CM were included for MTHFR C677T and 15 studies with 1,601 DSM and 1,849 CM were included for MTHFR A1298C. Overall analysis suggests an association of the MTHFR C677T polymorphism with maternal risk for DS. Moreover, no association between the MTHFR A1298C polymorphism and maternal risk for DS was found. There is also evidence of higher heterogeneity, with I(2) test values ranging from 8 to 89%. No evidence of publication bias was found. Taken together, our meta-analysis implied that the T allele carriers might carry an increased maternal risk for DS.

Study of autonomic modulation by non-linear analysis of heart rate variability in different age groups and analysis of health status, disease and risk of death in dogs.

The symbolic analysis of heart rate variability (biomarker of cardiac autonomic homeostasis) is a nonlinear and effective tool for pattern extraction and classification in a series analysis, which implies the transformation of an original time series into symbols, represented by numbers. Autonomic heart rate control is influenced by different factors, and better indicators of heart rate variability are found in healthy young individuals than in older and sicker individuals. The aim of this study was to compare the indicators of heart rate variability among healthy dogs in different age groups and in health status using the nonlinear method of symbolic analysis to evaluate the diagnostic accuracy of this method for the risk of death in dogs. An increase in cardiac sympathetic modulation was observed in puppies and dogs at risk of death, which was evidenced by a marked increase of 0 V% (without variation - associated with sympathetic modulation) and a decrease in patterns of 2 V% (two variations - associated with parasympathetic modulation), while the opposite was observed in young adult dogs with increased parasympathetic modulation. Elderly dogs showed a gradual decrease in parasympathetic activity, which tended to worsen with loss of health. It is concluded that the variables of symbolic analysis may be useful to evaluate autonomic modulation in dogs and assist in the differentiation between health states, advanced disease and death throughout the life cycle and have been shown to be indices with high specificity, sensitivity and diagnostic accuracy to help identify dogs at risk of death.

Effects of cold water immersion and active recovery on post-exercise heart rate variability.

The aim of the present study was to investigate the potential benefits of cold water immersion (CWI) and active recovery (AR) on blood lactate concentration ([Lac]) and heart rate variability (HRV) indices following high-intensity exercise. 20 male subjects were recruited. On the first visit, an incremental test was performed to determine maximal oxygen consumption and the associated speed (MAS). The remaining 3 visits for the performance of constant velocity exhaustive tests at MAS and different recovery methods (6 min) were separated by 7-day intervals [randomized: CWI, AR or passive recovery (PR)]. The CWI and AR lowered [Lac] (p<0.05) at 11, 13 and 15 min after exercise cessation in comparison to PR. There was a 'time' and 'recovery mode' interaction for 2 HRV indices: standard deviation of normal R-R intervals (SDNN) (partial eta squared=0.114) and natural log of low-frequency power density (lnLF) (partial eta squared=0.090). CWI presented significantly higher SDNN compared to PR at 15 min of recovery (p<0.05). In addition, greater SDNN values were found in CWI vs. AR during the application of recovery interventions, and at 30 and 75 min post-exercise (p<0.05 for all differences). The lnLF during the recovery interventions and at 75 min post-exercise was greater using CWI compared with AR (p<0.05). For square root of the mean of the sum of the squares of differences between adjacent R-R intervals (RMSSD) and natural log of high-frequency power density (lnHF), a moderate effect size was found between CWI and PR during the recovery interventions and at 15 min post-exercise. Our findings show that AR and CWI offer benefits regarding the removal of [Lac] following high-intensity exercise. While limited, CWI results in some improvement in post-exercise cardiac autonomic regulation compared to AR and PR. Further, AR is not recommended if the aim is to accelerate the parasympathetic reactivation.

The European Academy of Andrology (EAA) ultrasound study on healthy, fertile men: Scrotal ultrasound reference ranges and associations with clinical, seminal, and biochemical characteristics.

BACKGROUND: Scrotal color Doppler ultrasound (CDUS) still suffers from lack of standardization. Hence, the European Academy of Andrology (EAA) has promoted a multicenter study to assess the CDUS characteristics of healthy fertile men (HFM) to obtain normative parameters. OBJECTIVES: To report and discuss the scrotal organs CDUS reference ranges and characteristics in HFM and their associations with clinical, seminal, and biochemical parameters. METHODS: A cohort of 248 HFM (35.3 ± 5.9years) was studied, evaluating, on the same day, clinical, biochemical, seminal, and scrotal CDUS following Standard Operating Procedures. RESULTS: The CDUS reference range and characteristics of the scrotal organs of HFM are reported here. CDUS showed a higher accuracy than physical examination in detecting scrotal abnormalities. Prader orchidometer (PO)- and US-measured testicular volume (TV) were closely related. The US-assessed TV with the ellipsoid formula showed the best correlation with the PO-TV. The mean TV of HFM was ~ 17 ml. The lowest reference limit for right and left testis was 12 and 11 ml, thresholds defining testicular hypotrophy. The highest reference limit for epididymal head, tail, and vas deferens was 12, 6, and 4.5 mm, respectively. Mean TV was associated positively with sperm concentration and total count and negatively with gonadotropins levels and pulse pressure. Subjects with testicular inhomogeneity or calcifications showed lower sperm vitality and concentration, respectively, than the rest of the sample. Sperm normal morphology and progressive motility were positively associated with epididymal head size/vascularization and vas deferens size, respectively. Increased epididymis and vas deferens sizes were associated with MAR test positivity. Decreased epididymal tail homogeneity/vascularization were positively associated with waistline, which was negatively associated with intratesticular vascularization. CDUS varicocele was detected in 37.2% of men and was not associated with seminal or hormonal parameters. Scrotal CDUS parameters were not associated with time to pregnancy, number of children, history of miscarriage. CONCLUSIONS: The present findings will help in better understanding male infertility pathophysiology, improving its management.

Edible mushroom Agaricus sylvaticus can prevent the onset of atheroma plaques in hipercholesterolemic rabbits.

Since the involvement of free radicals in the pathophysiology of atherosclerosis was proposed, antioxidant supplementation arose as a potential strategy for the management of this disease. Thus, we decided to investigate the potential benefit of a natural antioxidant--rich edible mushroom (Agaricus sylvaticus) on the prevention of atherosclerosis. New Zealand rabbits underwent atherosclerosis induction by feeding a cholesterol--enriched chow (Group A), while Group B simultaneously received edible mushroom A. sylvaticus water solution. Control group received standard rabbit chow only (Group C). At the end of 10 week treatment period serum samples were drawn for lipid profile, uric acid, thiobarbituric acid reactive substances (TBARS), and total antioxidant status (TAS). The area of aorta arteries taken by atheroma plaques was evaluated. Groups A and B presented higher cholesterol levels (p< 0.01) and reduced TAS (p<0.01), when compared to the Group C. However, TBARS and uric acid levels for Group B animals' were reduced, in comparison to Group A (p<0.05), and equals to group C. Moreover, animals from group A developed extensive atherosclerotic areas (47.0+/-14.0%), and that was prevented by the supplementation of A. sylvaticus (6.6+/-2.9%, p<0.01). Data suggested that A. sylvaticus can prevent the development of atherosclerosis in spite of hipercholesterolemia.

Risk factors of childhood asthma in Sao Jose do Rio Preto, Sao Paulo, Brazil.

BACKGROUND: Epidemiological studies have shown increased prevalence of asthma over the last decades and a considerable variation in these rates between different countries, mainly developed. Changes in lifestyle of different populations could explain the increasing prevalence of asthma and its different rates in different communities. OBJECTIVES: A case-control study was conducted to investigate some risks factors associated to asthma in schoolchildren in São José do Rio Preto, São Paulo, Brazil. CASUISTIC AND METHODS: A total of 3793 self-administered written questionnaire (WQ) was filled in by parents of 6-7-year-old schoolchildren, applying the International Study of Asthma and Allergies in Childhood (ISAAC) protocol. Additionally, was added a supplementary WQ evaluating risk factors: gender, personal history of rhinitis and atopic eczema, familial history of atopy, older siblings, day care, breastfeeding, and exposure to pets and to cigarette smoking. Children whose parents responded affirmatively to question 'Has your child had wheezing in the past 12 monthsquest;' were identified as having current asthma. RESULTS: The prevalence of current asthma was 18.3%. In multivariate analysis the following risk factors were associated with asthma: rhinitis (OR = 10.6; 95% CI = 8.27-13.56), atopic eczema (OR = 1.54; 95% CI = 1.00-2.35), father with asthma (OR = 3.49; 95% CI = 1.83-6.67), mother with asthma (OR = 1.84; 95% CI = 1.11-3.05), current exposure to pets (OR = 1.83; 95% CI = 1.45-2.32) and passive tobacco smoking exposure (OR = 1.43; 95% CI = 1.12-1.83). CONCLUSIONS: Our results show that genetic background, environmental factors and the presence of co-morbidities such as rhinitis and atopic eczema are associated to the genesis of asthma in Brazilian schoolchildren.

Sensitivity and specificity of combined perimetric and volumetric evaluations in the diagnosis of arm lymphedema.

The objective of the current study was to evaluate the sensitivity and the specificity of perimetry combined with volumetry in the treatment of lymphedema. Ninety women, who had been submitted to breast cancer surgery, were randomly selected in the Government Healthcare Clinic for this study. Only patients who underwent surgical treatment of breast cancer with some degree of lymphadenectomy were included in the study cohort. Individuals with active disease, whether local or otherwise, functional alterations of the upper limbs before breast cancer surgery were not included. The following possibilities were considered: 1--the perimetry evaluation was considered positive when the difference between the affected and unaffected sides was > or =2 cm for any one of the seven measurements and volumetry was > or = 100 mL; 2--perimetry > or =2 cm and volumetry > or =200 mL; 3--a difference > 10% between the two limbs in volumetry and perimetry. Prevalence, sensitivity, specificity, positive predictive value, negative predictive value and accuracy were evaluated statistically with an alpha error of 5% considered acceptable (p-value < 0.05). The mean age of the women was 54.8 +/- 11.7 years. The sensitivity, negative predictive value and accuracy were higher using perimetry when a volume > or =2 cm were considered. The specificity and positive predictive values were better when the difference was greater than 10% between the two limbs by both perimetry and volumetry. Perimetry is a reliable method in the diagnosis of lymphedema when differences > or =2 cm between the two limbs should be considered.

Lower-extremity amputation: a 6-year follow-up study in Brazil.

PURPOSE: To evaluate the 6-year mortality in 50 patients following lower-limb amputation. METHODS: The cumulative survival rate of 50 (28 men, 22 women) amputees aged 54 to 94 years (mean, 67.3; median, 73.5) was retrospectively studied from 1993 to 1998. Indications for above- or below-knee amputation were trauma (n = 2), vasculitis (n = 2), and critical ischaemia of the lower limbs (n = 46). Leg amputation was performed after anamnesis, physical examination, and angiography. All patients were followed up for 6 years by phone or domiciliary visit. A death certificate was verified when a patient was lost to follow-up. Statistical analysis was expressed by the actuarial survival curve. RESULTS: Of 50 amputees, 36 died in the 6 years following leg amputation: 22 in the first year, 3 in the second year, 5 in the third year, 2 in the fourth year, 2 in the fifth year, 2 in the sixth year; 14 remained alive after 6 years. CONCLUSION: Patients who underwent lower-limb amputation had a high 6-year mortality. Most deaths occurred in the first year.

Dynamic cardiomyoplasty: long-term clinical results in patients with dilated cardiomyopathy.

BACKGROUND: Dynamic cardiomyoplasty has been considered to be an effective method of surgical treatment of patients with end-stage heart failure, and is an alternative to heart transplantation. METHODS: We critically evaluated the long-term course of 52 patients with dilated cardiomyopathy who underwent dynamic cardiomyoplasty and were followed-up for up to 110 months. RESULTS: Dilated cardiomyopathy was due to undetermined cause in 42 patients (80.8%), Chagas disease in 8 (15.4%), viral infection in 1 (1.9%), and peripartum cardiomyopathy in 1 (1.9%). In the nonchagasic group the survival rates were 79.5% +/- 6.1%, 67.8% +/- 7.1%, 53.7% +/- 8.3%, 49.9% +/- 8.3%, 14.9% +/- 12.2%, and 14.9% +/- 12.2%, respectively, at 12, 24, 48, 60, 80 and 110 months of follow-up. In the chagasic patients the survival rates were 37.5% +/- 17.1%, 12.5% +/- 11.7%, 12.5% +/- 11.7% and 0%, respectively, at 12, 24, 48, and 60 months of follow-up, making chagasic cardiomyopathy a possible contraindication for dynamic cardiomyoplasty. CONCLUSIONS: There was no correlation between the clinical improvement and hemodynamic data. Ventricular fibrillation was a frequent cause of immediate and late death, suggesting the need for prophylactic use of antiarrhythmic drugs or implantable cardioverter/ defibrillators.

Mapping of bovine pericardium: physical and histopathologic tests.

BACKGROUND AND AIMS OF THE STUDY: This study was performed to identify the physical and histopathologic characteristics of different sections of glutaraldehyde-tanned bovine pericardium. METHODS: Ten pericardial sacs were obtained from animals aged from 18 to 36 months. Physical tests included shrinkage and mechanical resistance (rupture, elongation, tenacity index). Collagen and elastic fibers were evaluated in Gomori's trichrome-stained sections, hematoxylin and eosin, by PAS and Verhoeff's method. Studied areas were proximal to the great arteries, and the right atrial, right ventricular, left ventricular and left atrial regions. RESULTS AND CONCLUSIONS: Results showed that bovine pericardium does not have enough regional differences to identify any single region for bioprosthesis manufacture. However, histopathology showed better preservation of collagen and elastic fibers in the right ventricular region, implying that this area is more adequate as bioprosthetic material.

Self-drainage lymphatic technique.

About 100 million people around the world have lymphedema; however, a large number do not have access to any kind of treatment. The current study reports on a technique of lymphatic self-drainage. The method consists of utilizing rods, bars, or any cylindrical object that rolls smoothly over the skin area to be drained. During this gliding motion a pressure of around 30 to 40 mm Hg should be exerted by the patient. The classical concepts of lymphatic drainage should be followed. This new method was subjected to a lymphoscintigraphic, anthropometric, and clinical evaluation demonstrating its usefulness in treating lymphedema.

Prevalence of anticardiolipin antibodies in peripheral arterial thrombosis.

The aim of this study was to assess prospectively the prevalence of anticardiolipin antibodies in patients with peripheral arterial thrombosis. Fifty-nine patients with arterial thrombosis (38 men, 21 women), ages ranging from 24 to 80 years, mean age, 45.5 years, were studied. The control group included 100 volunteer blood donors. After confirmation of the thrombotic event, anticardiolipin antibodies were dosed by the immunoassay enzyme method and by dilution. In Group I these antibodies were present in 62.7% of the patients, of which 33.9% were borderline and 28.8% were positive. In the control group 6% of the patients were borderline and 1% was positive. The statistical analysis showed that the prevalence found was statistically significant (p < 0.001), even when the borderline titers were not considered positive. Patients with peripheral arterial thrombosis have a high prevalence of anticardiolipin antibodies.

Lymphoscintigraphic evaluation in patients after erysipelas.

Erysipelas (cellulitis/lymphangitis) is a superficial cutaneous infection spread by the lymphatic system which may result in permanent injury to the lymphatic vessels. The study evaluated the lymphatic drainage in the lower limbs of 30 patients with at least two episodes of erysipelas by means of lymphoscintigraphy. Twenty-two (73%) were female and 8 (27%) were male with ages ranging from 26 to 77 years (mean 52 years). Lymphoscintigraphy was performed by intradermal administration of 500 microCi (20 Mbq) of 99mTc antimony sulfur-colloid in two interdigital spaces of the feet. Whole body scintigraphy was performed 45 minutes after the administration of the radiopharmaceutical using a computerized gamma camera. Significant lymphatic abnormalities were found in 23 (77%) of these patients. We conclude that most patients with repeated erysipelas have significant and even permanent abnormalities in regional lymphatic drainage. Recurrent erysipelas suggests underlying primary or secondary lymphedema.

[The epidemiology of Chagas' disease in a rural area of the city of Teresina, Piauí, Brazil]. / Epidemiologia da doença de Chagas na zona rural do município de Teresina-Piauí, Brasil.

In the rural areas of Teresina, 129 triatomines were captured distributed in (a) artificial ecotopes; a house with one Triatoma brasiliensis, one Panstrongylus geniculatus, Rhodnius pictipes, and one Rhodnius prolixus and in a uninhabited chicken house (7 Rhodnius nasutus). (b) Natural ecotopes; Pahus Orbignya martiana (41 Rhodnius neglectus, 33 Rhodnius prolixus and 41 Rhodnius nasutus) and Copernicia cerifera (3 Rhodnius neglectus). The 22.6% of captured triatomines were infected by flagellates similar to Trypanosoma cruzi. Twenty-eight sylvatic mammals were captured and examined. Seven Didelphia albiventris, 2 Rattus rattus and a Tamandua tetradactyla were infected with flagellates. The flagellates found in both triatomines and mammals were morphologically indistinguishable from Trypanosoma cruzi. Serology by the indirect immunofluorescence test for Chagas disease revealed two positive seroreactions of positivity among 123 inhabitants examined.

[Age of appearance and disappearance of rolandic spikes of 160 children treated in ambulatory. Actuarial study]. / Idade de aparecimento e desaparecimento das pontas rolândicas em 160 crianças acompanhadas ambulatorialmente. Estudo atuarial.

UNLABELLED: This study aims to determine the age at which the rolandic spikes (RS) appear and disappear in routine EEGs. METHOD: It has been carried out a hospital based prospective study of 412 EEGs records of 160 children who had been assisted at the neuropediatric out-patient department during the period between March, 1989 and March, 1998. Recordings were made on 8-channel instruments and 10/20 system has been to place the electrodes. The children have been divided into 4 groups, according to their age (1 to 4; 5 to 8; 9 to 16; 1 to 16), and the actuarial curve method has been used to show the disappearance of the rolandic spikes. RESULTS: RS distribution between boys and girls has been 64/36 ratio. RS have been found at average age of 7 years (boys, 7.2 and girls, 6.6). In a small group of children with normal EEGs previous to the RS appearance, the average age has been 6.8 years old. After this 7-year follow up period, the percentage of patients free from RSs was 60% for 1 to 4 year old group at admission; 84% for the 5 to 8 year old group and for the 9 to 16 year old group. For the total group (1 to 16 year old), the percentage of those free from RSs after this 7 year follow up period was 78%. CONCLUSION: This study shows that RSs appear at the average age of 7 years old, and are likely to disappear up to the end of a 7-year follow up period, independently on the appearance age.

[Left atrial myxoma and isquemic stroke in a child]. / Mixoma atrial esquerdo com acidente vascular cerebral isquêmico em criança.

The authors present a case of left atrial myxoma with stroke in an 8-year-old female child. The tumor was removed and two months after the surgery a left atrial septum mass was observed suggesting recurrence. The child was asymptomatic. Literature review emphasizes the rarity and clinically aggressive behavior of this tumor at this age group and demonstrates rare recurrence rates after surgery.

[Nutritional status of surgical patients without apparent nutritional compromise]. / Estado nutricional de pacientes quirúrgicos sin aparente compromiso nutricional.

Nutritional status of 80 preoperative patients from programmed surgeries of hernias and lithiasis was studied by anthropometric and biochemical parameters. Nutritional deficiencies related to pathology were not expected in these patients. Results were as follows: 77% of the population showed overweight, being 15% obese. Prevalent protein intake, evaluated by the urea nitrogen/creatinine ratio, was adequate in 87.5% of the patients; however, patients presented 72% of albumin, 52% of prealbumin and 50% of RBP below reference values. Transferrin, ceruloplasmin, alpha 2-macroglobulin and haptoglobin were not decreased. Assessment of vitamin A, carotenes and vitamin C showed plasmatic levels below reference values in 16% of the patients for vitamin A, 5% for carotenes and 27% for vitamin C. Respect to calcium status, data of calcium/creatinine ratio show deficiency in 45% of the population. Respect to iron, the nutritional status was in general adequate, patients at risk being 5% by Htc, 11% by Hb, 5% by TS% and 12.5% by FEP, women showed over twice abnormal values than men. Although some isolated relations were observed, in this population sex, age and pathology were variable that did not affect in a relevant way the nutritional status. In spite of the individual analysis of each nutrient did not show important deficiencies, the analysis by patient showed that only a few of them (7%) presented an optimal biochemical profile with all the studied parameters within the reference values.

Free Tools and Strategies for the Generation of 3D Finite Element Meshes: Modeling of the Cardiac Structures.

The Finite Element Method is a well-known technique, being extensively applied in different areas. Studies using the Finite Element Method (FEM) are targeted to improve cardiac ablation procedures. For such simulations, the finite element meshes should consider the size and histological features of the target structures. However, it is possible to verify that some methods or tools used to generate meshes of human body structures are still limited, due to nondetailed models, nontrivial preprocessing, or mainly limitation in the use condition. In this paper, alternatives are demonstrated to solid modeling and automatic generation of highly refined tetrahedral meshes, with quality compatible with other studies focused on mesh generation. The innovations presented here are strategies to integrate Open Source Software (OSS). The chosen techniques and strategies are presented and discussed, considering cardiac structures as a first application context.

Evaluation of lymph drainage using bioelectrical impedance of the body.

AIM: The aim of this study was to investigate the effects of manual and mechanical lymph drainage on the bioelectrical composition of body tissues of patients with lymphoedema of the lower limbs. METHOD: Twenty-one patients with lymphoedema of one leg were evaluated using single frequency bioelectrical impedance with four electrodes (SF-BIA4) immediately before and after a combination of manual and mechanical lymph drainage. Statistical analysis used the two-tailed paired t-test with an alpha error of 5% being considered acceptable. RESULTS: On comparing the results before and after lymph drainage, statistically significant differences were identified for both lymphoedematous and apparently healthy legs, but there were no significant differences in the alterations caused by the treatment between the healthy and lymphoedematous limbs of the same patient. CONCLUSION: It was concluded that the association of manual and mechanical lymph drainage both modified the body composition as identified by bioelectrical impedance, and reduced the oedema.