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Biomedical subjects

M S Carvalho

Publications and source records attributed to M S Carvalho.

16 recordsLinked to original sources
PubMed2000

Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases.

A heterogeneous group of patients with congenital muscular dystrophy associated with clinical or radiologic central nervous system involvement other than the severe classic form with merosin deficiency, muscle-eye-brain disease, and Walker-Warburg syndrome is described. A probable hereditary or familial occurrence could be suggested in all patients. One merosin-positive patient presented severe motor incapacity and cerebral atrophy without any clinical manifestation of central nervous system involvement. A second patient, also merosin-positive, had moderate motor and mental handicap, and epilepsy with no changes in neuroimaging. A third patient, found to have partial merosin deficiency by muscle biopsy, manifested severe psychomotor retardation and cerebral atrophy with foci of abnormal white-matter signal on magnetic resonance imaging. Finally, two merosin-positive siblings with microcephaly, mental retardation, and an incapacitating progressive neuromuscular course, exhibited cataracts without defects of neuronal migration or brain malformation. This report emphasizes the broad clinical spectrum and heterogeneity of merosin-positive congenital muscular dystrophy with associated central nervous system involvement, and illustrates the importance of further studies on clinical, immunohistochemical, and genetic grounds for identifying new subsets of congenital muscular dystrophy.

Atrophy↗
PubMed1999

Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation.

We report on two siblings that have been followed for 14 years, with merosin-positive congenital muscular dystrophy (CMD), cataract, retinitis pigmentosa, dysversion of the optic disc, but no cerebral anomalies, except for microcephaly and slight mental retardation (MR). The younger child had three generalized seizures easily controlled by anticonvulsant therapy. Both children presented hypotonia from birth, delayed psychomotor development, generalized muscular weakness, and atrophy and joint contractures of knees and ankles. The course of the disease, apparently static during the first 10 years of life, became progressive during the second decade with loss of deambulation by the age of 13. Creatine kinase was increased in both children. Bilateral cataract was diagnosed at 6-months of age. In spite of the occurrence of microcephaly, MR was slight and the siblings acquired reading and writing skills after the aged 10. Head magnetic resonance imaging showed normal results in both siblings. The classification of these cases within the broad spectrum of CMD is difficult since most of the known muscle-eye-brain syndromes generally show severe MR and brain anomalies. We consider these cases as corresponding to the rarer syndromes of merosin-positive CMD with associated features such as cataract and MR that were particularly emphasized during the 50th ENMC International Workshop on CMD [Dubowitz V. Workshop report: 50th ENMC International workshop on congenital muscular dystrophy. Neuromusc Disord 1997;7:539-547]. Further genetic, pathological, neuroradiological, and immunocytochemical studies will be necessary for better elucidation of the classification and pathogenesis of CMD.

Adolescent↗
PubMed1999

Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia.

We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.

Aged↗
PubMed1998

[Cardiopulmonary exercise testing for evaluation of muscle diseases].

PURPOSE: To evaluate the cardiopulmonary exercise testing (CPX) for the diagnosis of myopathies. METHODS: 27 patients with myopathy were submitted to CPX testing (symptom limited bike protocol). RESULTS: Dystrophic patients and patients with mitochondrial disease, compared with controls, showed significant differences for the power of work perfomed (watt) and the maximum oxygen consumption (VO2 max). Patients with mitochondrial disease presented significantly lower values of anaerobic threshold when compared to controls and elevation of exercise peak respiratory exchange ratio (RER) values when compared to the others groups. CONCLUSIONS: CPX testing may be useful in evaluating degree of physical limitation of patients with myopathy at inicial stage as well on follow-up examinations. Power of work performed, VO2 max, anaerobic threshold and RER at exercise peak may suggest the diagnosis of myopathy and its sub-types and therefore exclude psychologic causes of limitation.

Adolescent↗
PubMed1998

[Idiopathic chylopericardium].

We describe a case of a patient with idiopathic pericardial effusion that during investigation proved to be a chylopericardium. Lymphangiography showed the chylopericardium to be due to partial aplasia of the thoracic duct. A brief review the etiology, clinical feature, diagnostic procedures and therapeutic possibilities of chylopericardium is presented.

Adult↗
PubMed1998

Prenatal and postnatal depression among low income Brazilian women.

Postnatal depression is a significant problem affecting 10-15% of mothers in many countries and has been the subject of an increasing number of publications. Prenatal depression has been studied less. The aims of the present investigation were: 1) to obtain information on the prevalence of prenatal and postnatal depression in low income Brazilian women by using an instrument already employed in several countries, i.e., the Edinburgh Postnatal Depression Scale (EPDS); 2) to evaluate the risk factors involved in prenatal and postnatal depression in Brazil. The study groups included 33 pregnant women interviewed at home during the second and third trimesters of pregnancy, and once a month during the first six months after delivery. Questions on life events and the mother's relationship with the baby were posed during each visit. Depressed pregnant women received less support from their partners than non-depressed pregnant women (36.4 vs 72.2%, P < 0.05; Fisher exact test). Black women predominated among pre- and postnatally depressed subjects. Postnatal depression was associated with lower parity (0.4 +/- 0.5 vs 1.1 +/- 1.0, P < 0.05; Student t-test). Thus, the period of pregnancy may be susceptible to socio-environmental factors that induce depression, such as the lack of affective support from the partner. The prevalence rate of 12% observed for depression in the third month postpartum is comparable to that of studies from other countries.

Adult↗
PubMed1997

[Hearing findings in subjects after meningitis].

INTRODUCTION: It was proposed to ascertain the occurrence of individuals who present hearing loss, due to contracting meningitis, as well as to characterize the diagnosed loss as far as the type, degree and the audiometric configuration are concerned. MATERIAL AND METHOD: The methodology used comprised a survey of 949 references of patients attended at the Hearing Disturbance Center of the HPRLLP/USP, in order to select those who presented hearing loss after meningitis and, from the analysis of the hearing evaluation to which they were submitted, achieve the proposed goal. RESULTS AND CONCLUSION: The results indicated a 6.2 percent occurrence as regards hearing loss due to meningitis in relation to other causes and the characteristic of this hearing loss was predominantly sensorineural, symmetrical, al linear and to a profound degree.

Adolescent↗
PubMed1996

[Nemalinic myopathy with intracytoplasmic spheroid bodies: report of a case].

The authors report the case of a female patient, 18 years of age, with slowly progressing weakness in upper and lower limbs since childhood. There were no significant antecedents. The neurologic examination showed mild proximal and distal motor deficit with a slight muscular retraction at the level of shoulders, elbows, coxofemural joints, knees and ankles; muscular hypotrophy in the legs and feet; reflexes were present and sensitivity was normal. Creatinephosphokinase showed an increase of one and a half times the normal value. Electroneuromyography: decrease in the amplitude and duration of action potentials and excessive recruitment of motor units, compatible with a primary muscular disease. A muscle biopsy with frozen sections (HE, Gomori, PAS, ATPases, NADH, SDH, acid and alcaline phosphatases, cytochrome oxidase and Oil-red-o) revealed a primary muscular disease characterized by the presence of nemalinic and intracytoplasmic spheroid bodies. Nemalinic bodies have been described with different structural abnormalities of muscle fibers; however, such association is rare. This is the second case report of concomitant occurrence of nemalinic and spheroid bodies.

Adolescent↗
PubMed1996

[Congenital myotonia. Report of 7 patients].

Myotonia is the phenomenon of decrease of muscular relaxation rate, after either a contraction or a mechanical or electrical stimulus. Congenital myotonias are hereditary affections and do not present muscular dystrophy. The current trend is to group them as ionic channels diseases, together with the periodic paralysis. The authors accompanied the cases of seven patients, six males and one female, with ages ranging from 16 to 48 years (average 27 years) and onset of symptoms between 1 and 10 years (average 5 years). These patients presented a myotonic phenomenon unleashed by intensive contraction and global muscular hypertrophy. Three patients were diagnosed as cases of Becker type generalized myotonia because they presented a recessive autosomic heredity and/or transient episodes of muscular weakness. Two patients fitted the description of Thomsen congenital myotonia, with a pattern of dominating autosomic heredity and/or absence of weakness episodes or worsening factors for their condition. Two patients presented fluctuating myotonia, which because worse in cold weather or at potassium intake. The clinical diagnosis was confirmed through complementary tests (electroneuromyography, muscle biopsy and DNA study). Each of the patients made use of different drugs, in the search of optimal lessening of their myotonia. There were five reports of amelioration with the use of diphenilhydantoine; one report with the use of carbamazepine; three reports with the use of acetazolamide; one report with the use of a calcium channel blocker; one report with the use of a beta-adrenergic; one report with the use of thiazide; and none with the use of quinidine/procainamide.

Adolescent↗
PubMed1995

[Influence of mannitol added to the nutrient solution on the mechanical performance and on the degree of myocardial edema of isolated hearts of rats].

PURPOSE: To analyse the influence of mannitol added to Krebs-Henseleit (KH) solution on the myocardium edema and myocardial function. METHODS: Isolated rat heart under isovolumetric contractions studied according to Langendorff's technique were perfused with KH solution at constant flow during 90 min. The coronary perfusion pressure, diastolic and systolic pressures were recorded at every 15 min. At the end of the experiment, myocardium water content was measured in hearts perfused with KH solution (group I, n = 9) and in hearts perfused with KH solution plus 8mM mannitol (group II, n = 8). These results were compared to non-perfused control heart (n = 9). RESULTS: Myocardial water content was statistically higher in group I (80.8 +/- 1.3%) compared to group II (78.1 +/- 0.7%) and control group (75.5 +/- 0.5%). Systolic arterial pressure was statistically higher in group I (86.2 +/- 11.5mmHg) compared to group II (72.7 +/- 21.1mmHg). There was no difference in the diastolic pressure between the two groups. Coronary perfusion pressure (Pp) increased progressively during the experiment in both groups. However, Pp was lower in group II than in group I. CONCLUSION: Mannitol added to KH solution significantly attenuates the myocardium edema in the isolated perfused rat heart.

Animals↗
PubMed1993

[Myopathies associated with tubular aggregates].

The authors report the case of a 58-year-old male patient with clinical and electromyographic features of myasthenia. Muscle biopsy with histochemistry and electronic microscopy made it possible to diagnose a myopathy associated with tubular aggregates. Attention is called to the fact that the anatomical pathologic alterations which were found may be present in a heterogenous group of patients showing a great variety of symptoms. Thus, there is no reason to consider the existence of a myopathy associated with tubular aggregates, since the anatomical and pathologic findings are inespecific and do not characterize any specific disease.

Biopsy↗
PubMed1992

[Evaluation of epidemiologic surveillance practice in the public health service in Brazil].

The results of a process evaluation of the epidemiological surveillance activities in 948 health units, situated in 98 of the most populated cities of each State in the country are presented. The survey was conducted towards the end of 1985. The following aspects were analyzed: information system, data analysis, epidemiological investigation. Institutional insertion, vaccination activities, management aspects and capacitation of the health worker were considered as potential determinants of performance. Data were submitted to correspondence analysis and a process of ascendant hierarchical classification, using the statistical package "Systeme Portable Pour L' Analise de Données-SPAD". The performance pattern was not found to be homogeneous. Six different classes of epidemiological surveillance practice in the health units were observed. In 53.7% of the services visited, even the most elementary norms of activity were not complied with. The presence of vaccination activities in the health units was associated with better performance in epidemiological surveillance. The study points to the need to review the epidemiological surveillance model in use in Brazil. It is no longer acceptable to restrict the practice of epidemiology in health services to communicable diseases, now to manage programs and services without epidemiological information.

Brazil↗
PubMedDate not supplied

Spatial partitioning using multivariate cluster analysis and a contiguity algorithm.

Spatial analysis of epidemiological data can be a useful tool for identifying patterns of disease occurrence and can provide substantial support for prevention and control strategies. To obtain the greatest spatial resolution, it is important to use the smallest available areal units with homogeneous population. However, small areas usually have a small population, introducing spurious variability in the chosen indicators of disease occurrence. This paper describes an approach for combining small geographical units to stabilize mortality rates by pooling information across areas according to specified risk profiles. The procedure is based on a principal component analysis, followed by a cluster analysis of social-economic indicators to classify the risk profile of each small area. The classification is used in an algorithm to join neighbouring areas with similar profiles until an estimated population size is achieved. We applied this method to two Administrative Regions of the city of Rio de Janeiro, Brazil, using the census tracts as the basic areal unit. Census tracts were classified according to four socioeconomic categories distributed spatially as a mosaic, where tracts of differing categories neighbour each other. The aggregation algorithm produced a new partition of the region studied, with the created areal units preserving the internal socioeconomic homogeneity.

Adult↗
PubMedDate not supplied

[Spatial analysis of Aedes aegypti larval distribution in the Ilha do Governador neighborhood of Rio de Janeiro, Brazil].

This study aims to help expand knowledge on Aedes aegypti in Rio de Janeiro, based on spatial analysis of the mosquito's breeding sites in the neighborhood of Ilha do Governador, Rio de Janeiro, from June 1992 to July 1994. Use of spatial analysis techniques is proposed for vector surveillance and control. Information obtained from the number of dwellings per block that were used for the analysis. A smoothing method, a Gaussian Kernel, was used in the spatial distribution analysis. Breaks in National Health Foundation intervention activities were observed between cycles 4 and 5 and 5 and 6, respectively, followed by increases in vector density and vector-positive areas. Permanently positive areas, like slums and a military compound, display the persistence of favorable environmental conditions for oviposition and larval growth, indicating flaws in the vector control program. Although Kernel is an exploratory analytical method involving subjective interpretation, it provides easy and fast visualization of sites subject to different degrees of risk, unaffected by existing political and administrative territorial apportionment.

Aedes↗
PubMedDate not supplied

[Centronuclear (myotubular) myopathy: a case report].

The authors report the case of a female 5-months-old child who presented from the age of two months delayed neuromotor development, marked hypotonia, general muscle weakness and bilateral palpebral ptosis. The muscle biopsy revealed many fibers with central nuclei and the diagnosis was centronuclear (myotubular) myopathy. The difficult histological characterization of this congenital myopathy and the great variability of clinical findings with light, moderate or severe involvement are analysed and discussed.

Biopsy↗