Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD: We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS: Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and the 19 MPS cases, after a full clinical, radiological, and biochemical study, were classified as follows: Hurler -- MPS I (1 case); Hunter -- MPS II (2 cases); Sanfilippo -- MPS III (2 cases); Morquio -- MPS IV (4 cases); Maroteaux-Lamy -- MPS VI (9 cases); and Sly -- MPS VII (1 case). DISCUSSION: The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability.

Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases

INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes. METHODS: We studied the frequency and the size of expanded GAA and their influence on neurologic findings, age at onset, and disease progression in 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia - 19 typical and 6 atypical - using a long-range PCR test. RESULTS: Abnormalities in cerebellar signs, in electrocardiography, and pes cavus occurred more frequently in typical cases; however, plantar response and speech were more frequently normal in this group when the both typical and atypical cases were compared. Homozygous GAA expansion repeats were detected in 17 cases (68%) - all typical cases. In 8 patients (32%) (6 atypical and 2 typical), no expansion was observed, ruling out the diagnosis of Friedreich's ataxia. In cases with GAA expansions, foot deformity, cardiac abnormalities, and some neurologic findings occurred more frequently; however, abnormalities in cranial nerves and in tomographic findings were detected less frequently than in patients without GAA expansions. DISCUSSION: Molecular analysis was imperative for the diagnosis of Friedreich's ataxia, not only for typical cases but also for atypical ones. There was no genotype-phenotype correlation. Diagnosis based only on clinical findings is limited; however, it aids in better screening for suspected cases that should be tested. Evaluation for vitamin E deficiency is recommended, especially in cases without GAA expansion.

Weight loss and morphometric study of intestinal mucosa in rats after massive intestinal resection: influence of a glutamine-enriched diet

Short-bowel syndrome is responsible for significant metabolic alterations that compromise nutritional status. Glutamine is considered an essential nutrient for enterocytes, so beneficial effects from supplementation of the diet with glutamine are hypothesized. PURPOSE: In this study, the effect of a diet enriched with glutamine was evaluated in rats undergoing extensive small bowel resection, with analysis of postoperative weight loss and intestinal morphometrics of villi height, crypt depth, and thickness of the duodenal and remnant jejunal mucosa. METHODS: Three groups of male Wistar rats were established receiving the following diets: with glutamine, without glutamine, and the standard diet of laboratory ration. All animals underwent an extensive small bowel resection, including the ileocecal valve, leaving a remnant jejunum of only 25 cm from the pylorus that was anastomosed lateral-laterally to the ascendant colon. The animals were weighed at the beginning and end of the experiment (20th postoperative day). Then they were killed and the remnant intestine was removed. Fragments of duodenal and jejunal mucosa were collected from the remnant intestine and submitted to histopathologic exam. The morphometric study of the intestinal mucosa was accomplished using a digital system (KS 300) connected to an optic microscope. Morphometrics included villi height, crypt depth, and the total thickness of intestinal mucosa. RESULTS: The weight loss comparison among the 3 groups showed no significant loss difference. The morphometric studies showed significantly taller duodenal villi in the glutamine group in comparison to the without glutamine group, but not different from the standard diet group. The measurements obtained comparing the 3 groups for villi height, crypt depth, and thickness of the remnant jejunum mucosa were greater in the glutamine-enriched diet group than for the without-glutamine diet group, though not significantly different from with standard-diet group. CONCLUSIONS: In rats with experimentally produced short-bowel syndrome, glutamine-enrichment of an isonitrogenous test diet was associated with an improved adaptation response by the intestinal mucosa but not reduced weight loss. However, the adaptation response in the group receiving the glutamine-enriched diet was not improved over that for the group fed regular chow.

The Bambuí health and aging study (BHAS). Prevalence of intermittent claudication in the aged population of the community of Bambuí and its associated factors

OBJECTIVE: To assess the prevalence of intermittent claudication in the aged population of Bambuí, Brazil, and to identify the factors associated with this disease. METHODS: Population-based cross-sectional study of the aged population ( > or = 60 years of age) of Bambuí. Participants were interviewed and examined, after written consent. Intermittent claudication was defined based on a standardized questionnaire. Analysis was performed using multiple logistic regression. RESULTS: Of the 1,742 elderly living in Bambuí, 1,485 (85.2%) were enrolled in the study. Thirty-seven individuals (2.5%) with intermittent claudication were identified: 28 (1.9%) males and 9 (0.6%) females. Their age brackets were: 16 (1.08%) individuals between 60 and 69 years of age, 17 (1.15%) between 70 and 79 years, and 4 (0.27%) > or = 80 years. A significant association between intermittent claudication and the following characteristics was found: male sex (OR=5.1; CI 2.4-11.0), smokers (OR=3.1; CI 1.2-8.5), ex-smokers (OR=3.4; CI 1.3-8.7), and more than 2 hospital admissions in the last 12 months (OR=2.8; CI 1.1-7.2). CONCLUSION: Disease prevalence was similar to that of other countries. The association between intermittent claudication and smoking strengthens the significance of tobacco in peripheral artery disease pathogenesis. The association of intermittent claudication and a higher number of hospital admissions suggests greater morbidity in the elderly affected.

Hypertension and clustering of cardiovascular risk factors in a community in Southeast Brazil: the Bambuí Health and Ageing Study

OBJECTIVE - A population-based prospective study was analysed to: a) determine the prevalence of hypertension; b) investigate the clustering of other cardiovascular risk factors and c) verify whether older differed from younger adults in the pattern of clustering. METHODS - The data comprised a representative sample of the population of Bambuí, Brazil. Multiple logistic regression was used to investigate the independent association between hypertension and selected factors. RESULTS - A total of 820 younger adults (82.5%) and 1494 older adults (85.9%) participated in this study. The overall prevalence of hypertension was 24.8% (SE=1.4 %), being higher in women (26.9±1.5%) than in men (22.0± 1.7%) (p=0.033). Hypertension was positively and significantly associated with physical inactivity, overweight, hypercholesterolemia hyperglycemia and hypertriglyceridemia. The coexistence of hypertension with 4 or more of these risk factors occurred 6 times more than expected by chance, after adjusting for age and sex (OR=6.3; 95%CI: 3.4-11.9). The pattern of risk factor clustering in hypertensive individuals differed with age. CONCLUSION - Our results reinforce the need to increase detection and treatment of hypertension and to approach patients' global risk profiles.

Pregnancy and peripartum cardiomyopathy: a comparative and prospective study

OBJECTIVE: To assess pregnancy outcome in women with peripartum cardiomyopathy and to compare it with idiopathic cardiomyopathy. METHODS: Twenty-six pregnant women, aged 28.4±6.1 years, with dilated cardiomyopathy were followed. Eighteen patients had peripartum cardiomyopathy [11 with persistent left ventricular systolic dysfunction (EF=45.2±2) and 7 with recovered ventricular function (EF=62.3±3.6)]. The 8 remaining patients had idiopathic cardiomyopathy (EF= 43.5±4.1). During the prenatal period, limited physical activity and a low-sodium diet were recommended, and hospitalization was recommended when complications occurred. RESULTS: Of the 26 patients, 11 (42.3%) had a normal delivery; 9(35.5%) had cardiac complications, 6 (22.2%) had obstetric complications. Two patients (7.7%) died. Two preterm pregnancies occurred, with 26 health newborns (2 sets of twins). Two miscarriages took place. The cardiac complication rate during pregnancy was lower (p<0.009) in the peripartum cardiomyopathy group without ventricular dysfunction and greater (p=0.01) in the idiopathic group when compared with the peripartum group with ventricular dysfunction. Changes in left ventricular ejection fraction were not observed (p<0.05) in the postpartum period, when compared with that during pregnancy in the 3 groups. CONCLUSION: Pregnancy in patients with dilated cardiomyopathy is associated with maternal morbidity. Left ventricular function is a prognostic factor and must be the most parameter when counseling patients with peripartum cardiomyopathy about a new pregnancy.

Morphometric and topographic study of coronary ostia

OBJECTIVE: To investigate the morphometric and topographic aspects of coronary ostia, correlating them with the aortic leaflets. METHODS: Fifty-one hearts with the great vessels attached were analyzed in this study. The ascending aorta was transversally sectioned 1 cm above the commissures of the aortic leaflets. The right and left coronary ostia were analyzed, as were the distances from these ostia to the bottom of the aortic sinuses and to the commissures of the aortic leaflets. RESULTS: The left coronary ostium was located below the intercommissural line in 42% of cases, above that line in 40% of cases, and at the level of that line in 18% of cases. The mean distance from the left coronary ostium to the bottom of the corresponding sinus was 12.6±2.61 mm. The right coronary ostium was located below the intercommissural line in 60% of cases, above that line in 28% of cases, and at the level of that line in 12% of cases. The mean distance from the right coronary ostium to the bottom of the corresponding aortic sinus was 13.2±2.64 mm. The mean diameters of the left and right coronary ostia were 4.75±0.93 mm and 3.46±0.94 mm, respectively. The mean diameters of the juxtamural portion of the left and right coronary arteries were 3.75±0.79 mm and 2.9±0.73 mm, respectively. In one case, both ostia were located in the left coronary sinus. CONCLUSION: The left coronary ostium may be located either above or below the intercommissural line. The right coronary ostium is predominantly located below the intercommissural line. The coronary ostia have reduced diameters as compared with the juxtamural diameters of their respective coronary arteries.

Morphological and functional study of the marginal sphincter of the sea anemones Phymactis clematis and Aulactinia marplatensis from intertidal of Mar del Plata, Argentina

It was made the characterization of marginal sphincter to the species Phymactis clematis (Drayton in Dana, 1849) and Aulactinia marplatensis (Zamponi, 1977), from intertidal ecosystem through their morphogical and functional study. The species P. clematis has a circumscript sphincter of palmate type. This muscle is constituted by a mesogloeal axis and several mesogloeal subaxes. Axis as well as subaxes give a support to the endoderm which border is smooth. Aulactinia marplatensis has a circunscript sphincter pinnate type. The axis has a truncated cone shape while in P. clematis the shape is cylindrical on its origin and it is bifurcated at the end. Both species experiments were carried out using the isolated muscles. They were stimulated at increasing KCl concentrations ranging from 20 to 200 mM. The results were analysed in the form of dose-response curves expressed in tension in grams force vs concentration. Contractil force increases in a sigmoid form to increasing KCl concentrations. The correlation between morphology and function and the differences shown in both species would be related to their intertidal distribution.

Influenza surviellance in Rio de Janeiro between 1980-1981: a virological and serological study

Laboratory surveillance of influenza has shown a low virus activity in Rio de Janeiro during 1980 and 1981. A few influenza A (H3N2) viruses were isolated in both years during the winter months. Serological investigations showed that this subtype has circulated mostly among children under 10 years of age. No H1N1 virus was isolated but an increase in the proportion of adults with antibody to his virus was noted in sera collected in 1981. Influenza B virus was isolated from children in the spring of 1981 and again an increase was noted in the proportion of adults with antibody to this virus.

Human leptospirosis in a slum area in the city of Rio de Janeiro, Brazil: a serological and epidemiological study

A serologic survey was carried out on slum dwellers in the city of Rio de Janeiro. A total of 259 serum samples from male and female individuals of different age groups were tested for the presence of antileptospire antibodies by microagglutination. Prevalence data were analyzed in relation to the major risk factors present at the site, mainly represented by the presence of carrier animals and the occurence of frequent floods. Of the samples tested, 25% reacted with antigens of different serogroups at titres ranging from 1:100 to 1:6400, with a predominance of titres <= 1:400; 35% of positive sera reacted with leptospirae of the Icterohaemorrhagiae serogroup. Reactions with Djasiman, Panama, Javanica, Canicola, Pyrogenes, Australis, Ballum, Sejroe, Bataviae, Grippotyphosa, Autumnalis and Cynopteri were also detected, though at lower frequencies. There was no statistically significant difference between sexes, but higher prevalence rates were found to be associated with increasing age. A focus of infection was characterized, in which social and economic factors contribute to the persistance of leptospirae by favoring the proliferation of the main reservoir.

A morphological, isoenzymatic and behavioural study of ten populations of Anopheles(Nyssorhynchus) albitarsis Lynch-Arribalzaga, 1878 (Diptera: culicidae) including from the type-locality - Baradero, Argentina

Anopheles (Nyssorhynchus) albitarsis Lynch-Arribalzaga, 1878 shows morphological and behavioural variations which results in it being sometimes considered as a major malaria vector and at other times as playing no important role in epidemiology. With the aim of clarifying the taxonomy of the species, comparative morphological and isoenzymatic studies were made in populations from the type-locality, Baradero, Argentina and from 9 different localities inBrazil. Morphological studies consisted of the observation of eggs in scanning electron microscopy, of complete chaetotaxy of larvae and pupae and of the detailed drawing of male and female adults. Only Guajara-Mirim and Rio Branco populations, described previously as Anopheles deaneorum sp.n., showed morphological differences. Isoenzymes were studied using 4th instar larvae homogenate and agarosegel electrophoresis. Eleven enzymatic loci were analyzed. By calculation of Nei's Genetic Distance (D), the populations could be separated into 5 groups: i)Baradero, ii)Marajo, iii)Boa Vista, iv)Angra, Itaguai and Paraipaba and v)Guajara-Mirim and Rio Branco. These groups belong to 2 major clusters called I and II, separated by D = 0.345. In the I cluster are groups i, ii and iii and in II clusteriv and v. In I, D=0.246 separates i and ii from iii, while i is separated by D =0.181 from ii. In II, D = 0.223 between iv and v. Only the population of group vcould be distinguished morphologically from the others, leading to the description of an independent species An. deaneorum.

Biomphalaria prona (Gastropoda: Planorbidae): a morphological and biochemical study

Two samples of Biomphalaria prona (Martens, 1873) from Lake Valencia (type locality) and seven from other Venezuelan localities were studied morphologically (shell and reproductive system) and biochemically (allozyme electrophoresis). In spite of marked differences in shell characters, all of them proved indistinguishable under the anatomic and biochemical criteria. So far B. prona has been considered an endemic species, restricted to Lake Valencia. It is now demonstrated that the extralacustrine populations refered to Biomphalaria havanensis (Pfeiffer, 1839) by several authors correspond in shell characters to an extreme variant of B. prona from the Lake and really belong to the last*mentioned species. They may be regarded as the result of a process of directional selection favoring a shell phenotype other than those making up the modal class in the Lake.

Zinc Sulphate in the Treatment of Cutaneous Leishmaniasis: an in Vitro and Animal Study

This study was designed to evaluate the effectiveness of zinc sulphate both in vitro and in an animal model against both strains of old world cutaneous leishmaniasis. The in vitro sensitivities of promastigotes and axenic amastigotes of both Leishmania major and L. tropica to zinc sulphate was determined, the LD50 calculated and compared to the standard treatment for cutaneous leishmaniasis pentavalent antimony compounds. The results show that the two forms of both strains were sensitive to zinc sulphate and their respective LD50 were lower compared to the pentavalent antimony compound. Furthermore the sensitivities of the forms of both strains were tested using a simple slide method and compared to results of the standard method. To confirm this result, zinc sulphate was administered orally to mice infected with cutaneous leishmaniasis both therapeutically and prophylactically. Results showed that oral zinc sulphate was effective in both treatment and prophylaxis for cutaneous leishmaniasis. These results encourage the use of oral zinc sulphate in the treatment of cutaneous leishmaniasis clinically.