bluuebunny/crossref_metadata_2025 huggingface dataset:
Diabetes melito do tipo 1A na primeira infância de gêmeos dizigóticos: associação entre fatores genéticos e ambientais
Authors: Tannus Lucianne R.M. , Oliveira Dhiãnah S. , Matheus Alessandra S.M. , Cunha Edna F. , Gomes Marília B.
Published: April 2007

O Diabetes Mellitus tipo 1A diagnosticado antes do 1º ano de vida é uma condição rara, podendo haver uma associação entre fatores genéticos e ambientais (infecção) que explique tal precocidade. Foi descrita a presença do genoma do Citomegalovírus (CMV) nos linfócitos, em cerca de 15% de novos casos de DM1. Relatamos os casos de desenvolvimento do diabetes em gêmeos dizigóticos do sexo masculino, nos primeiros 9 meses de idade com identidade nos alelos HLA (DR3/DR4) e história de infecção pelo CMV em ambos, comprovada por IgG+ e PCR urinária. Apenas o 2º gemelar apresentava o anticorpo anti-GAD positivo (9,6 UI/mL). Apesar de tratar-se de gêmeos dizigóticos, cuja taxa de concordância para diabetes, na literatura, é de 3,8%, assumem risco equivalente a monozigóticos (de 40%) por apresentarem HLA de alto risco para o diabetes. Acreditamos que tanto a concordância temporal como o início precoce do diabetes são decorrentes da associação entre infecção por CMV e forte suscetibilidade genética.
Evaluation of nutritional status of nonhospitalized patients with liver cirrhosis
Authors: Carvalho Luciana , Parise Edison Roberto
Published: April 2007

BACKGROUD: Protein-calorie malnutrition is a frequent finding in patients with chronic liver disease, but investigations of nutritional status have been rarely performed in individuals seen at outpatient clinics AIM: To evaluate the nutritional status of patients with alcoholic and nonalcoholic cirrhosis, attended for the first time at a reference outpatient clinic for liver diseases. PATIENTS AND METHODS: A total of 300 consecutive patients attended at the outpatient clinics of a reference center for liver diseases were investigated. Anthropometric evaluation was performed by the usual parameters: triceps skinfold, arm circumference and arm muscle circumference. Biochemical parameters included creatinine/height index, serum albumin and lymphocytes count. The nutritional diagnosis was based on the PCM score proposed by Mendenhall et al. Food intake was retrospectively evaluated using 24-hour dietary recall data. RESULTS: About 71% of the patients studied were chronic alcohol abusers, whereas in 29% cirrhosis was of nonalcoholic etiology. Independently of the disease etiology 75.3% of the patients showed some degree of protein-calorie malnutrition, which was moderate or severe in 38.3% of them. More advanced protein-calorie malnutrition degrees were associated with lower energy and protein intake. The prevalence of moderate or severe protein-calorie malnutrition was higher in patients classified as Child-Pugh C than in patients classified as Child-Pugh A (21% x 58%, respectively). Regarding sexual differences, fat reserves, evaluated by triceps skinfold, were more depleted in females than in males (48.6% x 26.6%) regardless of the etiology of the cirrhosis, whereas muscle reserves (arm muscle circumference) were more depleted in males (43.4% x 13.4%) regardless of the etiology of cirrhosis. In contrast, cirrhosis of alcoholic etiology was determinant in reducing arm muscle circumference in females (20% x 9.1%) CONCLUSIONS: These data highlight the high prevalence of protein-calorie malnutrition occurring early in the natural history of the disease and accompanying functional hepatic deterioration. In addition, attention should be paid to the different gender patterns of response to protein-calorie malnutrition in these patients.
Daily interferon induction regimen using different manufactured interferons (alpha-2a or alpha-2b) in combination with ribavirin for treatment of chronic hepatitis C: a prospective randomized study
Authors: Braga Eduardo Lorens , Lyra André Castro , Nascimento Lourianne , Netto Eduardo , Kalabrik Luciano , Lyra Luiz Guilherme Costa
Published: April 2007

BACKGROUD: Studies on hepatitis C virus kinetics showed that serum levels of interferon fall 48 h after drug administration, when viral load is increasing again. Previously to the availability of pegylated interferon, daily induction therapy with standard interferon was under evaluation. AIMS: To evaluate the safety and efficacy of interferon alpha daily induction regimen in combination with ribavirin. PATIENTS AND METHODS: A randomized trial including 93 patients with chronic hepatitis C was carried out. On satisfying all eligibility criteria, patients were randomly allocated to two different treatment groups: 44 individuals in treatment arm A: IFN 3 MU thrice weekly + ribavirin 1.0-1.2 g daily for 48 weeks (IFN TIW) and 49 individuals in treatment arm B: IFN 3 MU daily + ribavirin 1.0-1.2 g daily for 12 weeks followed by IFN 3 MU thrice weekly + ribavirin 1.0-1.2 g daily, until completion of 48 weeks of therapy (IFN QD). HCV genotyping was obtained in 85 subjects. A negative HCV-RNA 6 months after cessation of therapy was considered a sustained virological response RESULTS: Eighty three patients completed treatment, five dropped out (one from IFN TIW and four from IFN QD) and in five patients therapy was discontinued due to medical request (two from IFN TIW and three from IFN QD). There was no statistically significant difference between groups with respect to therapy interruption. The frequency of cirrhosis was 29%, similar in both groups. In the "intention to treat" analysis the overall sustained virological response was 39.8%. There was no significant difference in sustained virological response rate between both treatment strategies (36.4% IFN TIW vs 42.9% IFN QD). In the 83 patients who finished the trial, sustained virological response was 44.6%. Among subjects with HCV genotype-1, the sustained virological response was 42% (40.9% IFN TIW vs 42.9% IFN QD) and among patients with HCV genotype 2 or 3, the sustained virological response was 55.6% (50% IFN TIW vs 63.6% IFN QD) CONCLUSIONS: Combination therapy had an overall sustained virological response rate of 39.8% ("intention to treat analysis"). There was no difference with respect to sustained virological response rates between patients who used daily induction schedule compared to standard regimen. Adverse events, even more frequent in the daily induction group, did not interfere with the treatment strategies.
Bcl-2 expression in rectal cancer
Authors: Contu Paulo C. , Contu Simone S. , Moreira Luis F.
Published: April 2007

BACKGROUD: Proteins involved in apoptosis process seem to play an important role in colorectal carcinogenesis AIM: To determine the prevalence of bcl-2 protein immunohistochemical expression and its relation with clinical and histopathological variables of rectal adenocarcinoma. PATIENTS AND METHODS: One hundred and thirty-two patients operated at "Hospital de Clínicas de Porto Alegre", Porto Alegre, RS, Brazil, between 1988 and 1999 were studied through immunohistochemical reaction using a monoclonal antibody anti-bcl-2 on formalin-fixed, paraffin-embedded tissue samples RESULTS: The prevalence of bcl-2 protein was 29.5%. There was a significant increased number of positive bcl-2 cases among women as compared to men. There was no significant association between bcl-2 and age, tumour site, histological grade, mucin production, depth of invasion, lymphatic involvement, distant metastasis or stage, despite a trend showing decreased immunoreactivity to bcl-2 among poorly and moderately differentiated tumours, as well as disseminated disease CONCLUSIONS: Analysis of bcl-2 protein expression in tumour tissues, as well as other oncoproteins, may have a role in predict therapeutic response and prognosis of colorectal cancer. However, the potential use of bcl-2 protein assessment in the clinical set for management of rectal cancer remains to be determined.
Dispepsia funcional e depressão como fator associado
Authors: Silva Renato Azevedo da , Pinheiro Ricardo Tavares , Silva Ricardo Azevedo da , Horta Bernardo Lessa , Moraes Inácia , Faria Augusto Duarte
Published: April 2007

OBJETIVO: Avaliar a associação entre depressão e dispepsia funcional. PACIENTES E MÉTODOS: Estudo transversal onde foram avaliados 348 pacientes com diagnóstico de dispepsia no Ambulatório de Gastroenterologia do Hospital Universitário de Pelotas, RS, cidade de médio porte do sul do Brasil, durante o período de 1 ano (de março de 2001 a março de 2002). Após o diagnóstico de dispepsia avaliou-se a presença de depressão, tanto em pacientes com dispepsia funcional, quanto naqueles com dispepsia orgânica. Utilizou-se a análise univariada para descrição das freqüências das variáveis de interesse e da análise bivariada, com o teste qui-quadrado, para comparação entre proporções das variáveis categóricas. A técnica da regressão logística foi utilizada para estabelecer a chance dos pacientes com depressão apresentarem dispepsia funcional e para controlar o efeito das variáveis intervenientes sobre a variável de desfecho RESULTADOS: Evidenciaram maior prevalência de deprimidos entre os pacientes com dispepsia funcional (30,4%) em relação àqueles com dispepsia orgânica (11,2%). As mulheres apresentaram maior chance de dispepsia funcional (OR: 1,74, IC 95%, 1,05-2,89) e, em relação à idade, os intervalos entre 31 e 50 anos (OR: 0,28 IC 95%, 0,13-0,54) e de 51 a 60 anos (OR: 0,41, IC 95%, 0,17-0,96) mostraram efeito protetor, ou seja, indivíduos nessas faixas etárias têm menor risco de apresentar dispepsia funcional. Após a análise multivariada, pacientes deprimidos apresentaram chance três vezes maior de co-morbidade com dispepsia funcional do que pacientes não-deprimidos (OR 3,13; IC 95%; 1,71-5,74).
Growth evaluation in infants with neonatal cholestasis
Authors: Prado Camila Carbone , Nogueira Roberto José Negrão , Barros-Filho Antônio de Azevedo , Costa-Pinto Elizete Aparecida Lomazi da , Hessel Gabriel
Published: April 2007

BACKGROUD: Chronic liver diseases in childhood often cause undernutrition and growth failure. To our knowledge, growth parameters in infants with neonatal cholestasis are not available AIM: To evaluate the nutritional status and growth pattern in infants with intrahepatic cholestasis and extrahepatic cholestasis. PATIENTS AND METHODS: One hundred forty-four patients with neonatal cholestasis were followed up at the Pediatric Gastroenterology Service of the Teaching Hospital, State University of Campinas, Campinas, SP, Brazil, in a 23-year period, from 1980 to 2003. The records of these patients were reviewed and patients were classified into two groups, according to their anatomical diagnosis: patients with intrahepatic cholestasis - group 1, and patients with extrahepatic cholestasis - group 2. Records of weight and height measurements were collected at 4 age stages of growth, in the first year of life: 1) from the time of the first medical visit to the age of 4 months (T1); 2) from the 5th to the 7th month (T2); 3) from the 8th to the 10th month (T3); and 4) from the 11th to the 13th month (T4). The weight-by-age and height-by-age Z-scores were calculated for each patient at each stage. In order for the patient to be included in the study it was necessary to have the weight and/or height measurements at the 4 stages. Analyses of variance and Tukey's tests were used for statistical analysis. Repeated measurement analyses of variance of the weight-by-age Z-score were performed in a 60-patient sample, including 29 patients from group 1 and 31 patients from group 2. The height-by-age data of 33 patients were recorded, 15 from group 1 and 18 from group 2 RESULTS: The mean weight-by-age Z-scores of group 1 patients at the 4 age stages were: T1=-1.54; T2=-1.40; T3=-0.94; T4=-0.78. There was a significant difference between T2 X T3 and T1 X T4. The weight-by-age Z-scores for group 2 patients were :T1=-1.04; T2=-1.67; T3=-1.93 and T4=-1.77, with a significant difference between T1 X T2 and T1 X T4. The mean weight-by-age Z-scores also showed a significant difference between group 1 and group 2 at stages T3 and T4. The mean height-by-age Z-scores at the four stages in group 1 were: T1=-1.27; T2=-1.16; T3=-0.92 and T4=-0.22, with a significant difference between T3XT4 and T1XT4. The scores for group 2 patients were: T1=-0.93; T2=-1.89; T3=-2.26 and T4=-2.03, with a significant difference between T1XT2 and T1XT4. The mean height-by-age Z-scores also showed a significant difference between group 1 and group 2 at T3 and T4 CONCLUSION: The weight and height differences between the groups became significant from the 3rd measurement onward, with the most substantial deficit found in the extrahepatic group. In this group, there is evidence that the onset of weight and height deficit occurs between the first and second evaluation stages.
Effect of hyperthermia on experimental acute pancreatitis
Authors: Almeida José Luiz Jesus de , Jukemura José , Sampietre Sandra Nassa , Patzina Rosely Antunes , Cunha José Eduardo Monteiro da , Machado Marcel Cerqueira César
Published: April 2007

BACKGROUD: Recent studies indicate that hyperthermia can change inflammatory mechanisms and protect experimental animals from deleterious effects of secretagogue-induced acute pancreatitis AIM: To evaluate the effects of hyperthermia post-treatment on cerulein-induced acute pancreatitis in rats METHODS: Twenty animals were divided in two groups: group I (n = 10), rats with cerulein-induced acute pancreatitis undergone hyperthermia, and group II (n = 10), animals with cerulein-induced acute pancreatitis that were kept normothermic. In all groups, amylase serum levels, histologic damage, vascular permeability and pancreatic water content were assessed. Acute pancreatitis was induced by administration of two cerulein injections (20 mcg/kg). A single dose of Evans' blue dye was administered along with the second dose of cerulein. All animals also received a subcutaneous injection of saline solution. After this process, animals undergone hyperthermia were heated in a cage with two 100 W lamps. Body temperature was increased to 39.5ºC and maintained at that level for 45 minutes. Normothermia rats were kept at room temperature in a second cage RESULTS: Control animals had typical edema, serum amylase activity and morphologic changes of this acute pancreatitis model. Hyperthermia post-treatment ameliorated the pancreatic edema, whereas the histologic damage and the serum amylase level remained unchanged CONCLUSIONS: The findings suggest a beneficial effect of the thermal stress on inflammatory edema in experimental acute pancreatitis.
Doença do refluxo gastroesofágico: revisão ampliada
Authors: Nasi Ary , Moraes-Filho Joaquim Prado P. de , Cecconello Ivan
Published: April 2007

RACIONAL: A doença do refluxo gastroesofágico, considerada uma das afecções digestivas de maior prevalência nos países ocidentais, tem sido bastante estudada. Merece destaque o grande número de publicações existentes na literatura médica sobre o tema. Contudo, há controvérsia em relação a vários aspectos relevantes da afecção. OBJETIVOS: Salientar tópicos importantes da doença e apresentar revisão de literatura do tema. Foram revistos os seguintes tópicos: definição, prevalência, manifestações clínicas, diagnóstico, indicações e limitações dos principais métodos diagnósticos e tratamento clínico, cirúrgico e endoscópico MATERIAL E MÉTODOS: Pesquisou-se, via Internet: artigos de revisão, consensos, "guidelines" e revisões sistemáticas de literatura com meta-análise, publicados nos últimos 5 anos (2000 a 2005), nas seguintes bases de dados: Central de Registro de Estudos Controlados da Cochrane Library e na PubMed. Dentre muitos trabalhos encontrados, foram selecionados nove revisões sistemáticas de literatura com meta-análise, cinco revisões de literatura com critérios de inclusão bem definidos, cinco "guidelines" e quatro publicações de consensos, que abordassem os tópicos propostos para a revisão. Vale salientar que, como se observa nas referências bibliográficas, não foram consideradas apenas as publicações encontradas na referida pesquisa; outras publicações relevantes (algumas anteriores ao período de tempo analisado) foram consideradas na redação do presente texto CONCLUSÕES: Dentre as 12 conclusões apresentadas, destacam-se duas: 1. a impedanciometria esofágica tem contribuído substancialmente para o melhor conhecimento da doença do refluxo gastroesofágico e se desponta, quando associada à pHmetria (impedanciopHmetria esofágica), como o novo padrão-ouro para o diagnóstico do refluxo gastroesofágico, e 2. dentre os sintomas da afecção há os que podem ser considerados ácido-dependentes que costumam responder bem ao tratamento com inibidores de bomba de prótons. Contudo, há também sintomas que são mais dependentes da presença física do refluxo do que da sua acidez. Esses, que não dependem tanto do teor ácido do refluxo, não são bem controlados pelo uso de anti-secretores.
Early-onset Parkinson's disease and depression
Authors: Bertucci Filho Délcio , Teive Hélio A.G. , Werneck Lineu C.
Published: April 2007

Patients with Parkinson’s disease (PD) in whom symptoms start before the age of 45 years (EOPD) present different clinical characteristics from those with the late-onset form of the disease. The incidence of depression is believed to be greater in patients with EOPD than with the late-onset form of the disease, although there is no risk factor or marker for depression in patients with PD. We studied 45 patients with EOPD to define the frequency of depression and to identify possible differences between the groups with and without depression. Depression was diagnosed in 16 (35.5%) of the patients, a higher incidence than in the population at large but similar to the figure for late-onset Parkinson disease; 8 (50%) of the patients had mild depression, 4 (25%) moderate depression and 4 (25%) were in remission. There was no relationship between depression and any of the clinical characteristics of the disease, although the EOPD patients with depression presented earlier levodopa-related complications and were more affected on the Hoehn-Yahr, UPDRS and Schwab-England scales.
Study of polymorphisms in the interleukin-4 and IL-4 receptor genes in a population of Brazilian patients with multiple sclerosis
Authors: Quirico-Santos Thereza , Suppiah Vijayaprakash , Heggarty Shirley , Caetano Regina , Alves-Leon Soniza , Vandenbroeck Koen
Published: April 2007

This study aimed to investigate in a population of Brazilian patients with multiple sclerosis (MS) single-nucleotide polymorphisms (SNP) in the promoter region of IL4 (*33C-T) and receptor IL4R (*Q551R A-G) genes proposed to interfere with disease progression. No significant differences were observed in either of the SNPs investigated between healthy controls (n=135) and MS patients (n=129). However, the IL4+33 TT genotype was significantly (p=0.039) higher in African descendants MS (AF-MS= 9.09%) than in Caucasian MS (CA-MS= 1.35%). It was also observed a significant (p=0.016) increase for the IL4R* Q551R CC genotype in AF-MS compared to those of Caucasian ethnicity (AF-MS= 21.62%; CA-MS= 4.35%). These results suggest that IL4+33 and IL4R*Q551 polymorphisms may have a disease-promoting role of TH2 mediators in African MS descendants. Additionally neither IL4 nor IL4R genes are susceptibility factors for Brazilian MS but may be able to modify ethnicity-dependent disease risk and penetrance of susceptibility factors.
Linkage study of voltage-gated potassium channels in familial mesial temporal lobe epilepsy
Authors: Maurer-Morelli Cláudia Vianna , Marchesini Rafael Breglio , Secolin Rodrigo , Santos Neide Ferreira , Kobayashi Eliane , Cendes Fernando , Lopes-Cendes Iscia
Published: April 2007

Voltage-gated potassium channels (VGKCs) play a critical role in the regulation of neuronal excitability and have been implicated in some types of epilepsies. Recently, autoimmune limbic encephalitis (LE) was associated with antibodies against VGKC. In addition, patients with LE showed partial epilepsy and increased T2 signal abnormalities in limbic structures. We have reported familial mesial temporal lobe epilepsy (FMTLE) associated with hippocampal atrophy (HA) and other signs of mesial temporal sclerosis detected by magnetic resonance imaging (MRI). In order to investigate whether VGKC may be associated to HA present in FMTLE, we perform linkage study in these candidate genes. Seventy-three microsatellites markers were genotyped in different human autosomal chromosome. Two-point LOD scores did not show evidence for linkage with any of the microsatellite markers genotyped (Zmax ranging from 0.11to-9.53 at theta=0.00). In the present study, linkage data showed no evidence that VGKC are involved in the determination of HA in FMTLE.
Rett syndrome: clinical and molecular characterization of two Brazilian patients
Authors: Stachon Andrea , Assumpção Jr Francisco Baptista , Raskin Salmo
Published: April 2007

BACKGROUND: Rett syndrome (RS) is recognized as a pan-ethnic condition. Since the identification of mutations in the MECP2 gene, more patients have been diagnosed, and a broad spectrum of phenotypes has been reported. There is a lack of phenotype-genotype studies. OBJECTIVE: To describe two cases of Brazilian patients with identified MECP2 mutations. METHOD: We present two female Brazilian patients with RS. RESULTS: Both patients presented with regression at 2-3 years of age, when stereotypic hand movements, social withdrawal and postnatal deceleration of head growth rate were observed. Both patients presented verbal communication impairment. Case 1 had loss of purposeful hand movements, and severe seizure episodes. Case 2 had milder impairment of purposeful hand movements, and no seizures. They had different mutations, D97Y and R294X, found in exons 3 and 4 of MECP2 gene, respectively. CONCLUSION: Testing for MECP2 mutations is important to confirm diagnosis and to establish genotype/phenotype correlations, and improve genetic counseling.
Outcome of sleepiness and fatigue scores in obstructive sleep apnea syndrome patients with and without restless legs syndrome after nasal CPAP
Authors: Rodrigues Raimundo Nonato Delgado , Rodrigues Aída Alexandra Alvim de Abreu e Silva , Pratesi Riccardo , Gomes Marília Miranda Fortes , Vasconcelos Ana Maria Nogales , Erhardt Christine , Krieger Jean
Published: April 2007

BACKGROUND & PURPOSE: The association of obstructive sleep apnea syndrome (OSAS) and restless legs syndrome (RLS) has been reported in the literature for many years. Both conditions may be responsible for fatigue and somnolence complaints secondary to nocturnal sleep disruption. The primary concern of this study is to evaluate the outcome of fatigue and daytime sleepiness symptoms at baseline and after continuous positive air pressure (CPAP) treatment in OSAS patients with and without RLS. METHOD: A prospective and comparative study between a group of 13 patients with OSAS and a group of 17 patients with OSAS+RLS. Laboratory blood tests and polysomnography were performed at baseline. The Epworth Sleepiness Scale (ESS) and the Pichot’s questionnaire of fatigue/depression (PIC) were applied before and after 3 months of CPAP treatment. Results were compared. RESULTS: No significant differences were found on PSG and laboratory results at baseline. Both groups had similar ESS and PIC scores at baseline (p=0.73 and 0.08, respectively). After n-CPAP, OSAS+RLS patients showed higher ESS and PIC scores (p=0.017 and 0.03, respectively). CONCLUSIONS: Despite a favorable general response, n-CPAP seemed less effective in treating fatigue and sleepiness in the OSAS+RLS group.
Event-related potentials (P300) and neuropsychological assessment in boys exhibiting Duchenne muscular dystrophy
Authors: Della Coletta Marcus Vinicius , Scola Rosana Herminia , Wiemes Gislaine Richter Minhoto , Fonseca Cláudia Nasser , Mäder Maria Joana , Freund Aline Andrade , Werneck Lineu César
Published: April 2007

OBJECTIVE: To examine auditory cognitive evoked potentials (P300 potentials) and neuropsychological dysfunction in patients with Duchenne muscular dystrophy (DMD). METHOD: P300 potentials and neuropsychological test results were obtained from 16 healthy control boys and 20 DMD patients. Full Intelligence Quotients (IQ) were estimated for patients and control group. Mean age was 9.5 years in the DMD patient group, and 10 years in the control group (p>0.05). RESULTS: The mean IQ values were 64.35 in the DMD patients and 82.68 in the control group (p=0.01). Mean P300 values were 347.6 in the DMD group and 337.4 in the control group (p=0.14). There was no significant correlation between parameters in each group. CONCLUSION: DMD patients showed a poor performance as evaluated by P300 potential compared to the control group, although the difference was not statistically significant. Systematic alterations in neuropsychological test results were found, the differences paralleling those detected in IQ.
EEG spectral cohrence inter and intrahemispheric during catching object fall task
Authors: Portella Cláudio Elidio , Silva Julio Guilherme , Machado Sergio , Velasques Bruna , Bastos Victor Hugo do Vale , Ferreira-Vorkapic Camila , Terra Patrícia , Lopes Vladimir , Cagy Mauricio , Carvalho Eduardo de , Orsini Marco , Basile Luis , Piedade Roberto , Ribeiro Pedro
Published: April 2007

The aim of the present study was to evaluate coherence measures at Theta through qEEG during the accomplishment of a specific motor task. The sample consisted of 23 healthy individuals, both sexes, with ages varying between 25 and 40 years old. All subjects were submmitted to a specific motor task of cacthing sequences of falling balls. A three-way ANOVA was employed for the statistical analysis, which demonstrated main effects for the following factors: time, block and position. However, there was no interection between the factors. A significant and generalized coherence reduction was observed during the task execution time. Coherence was also diminished at the left frontal cortex and contralateral hemisphere of the utilizing limb (comparing to the right frontal cortex). In conclusion, these findings suggest a certain specialization of the neural circuit, also according to previous investigations. The inter-coherence reduction suggests a spatial inter-electrode dependence during the task, rather than a neuronal specialization.
Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach
Authors: Freund Aline Andrade , Scola Rosana Herminia , Arndt Raquel Cristina , Lorenzoni Paulo José , Kay Claudia Kamoy , Werneck Lineu Cesar
Published: April 2007

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of the exons; 68% of these deletions were in the hot-spot 3' region. Deletions were found in 81.5% of the DMD cases and in all the BMD cases. The cases without deletions, which included the only woman in the study with DMD, had dystrophin deficiency. The symptomatic female carriers had no deletions but had abnormal dystrophin distribution in the sarcolemma (discontinuous immunostains). The following diagnoses were made for the remaining cases without deletions with the aid of a muscle biopsy: spinal muscular atrophy, congenital myopathy; sarcoglycan deficiency and unclassified limb-girdle muscular dystrophy. Dystrophin analysis by immunohistochemistry continues to be the most specific method for diagnosis of DMD/BMD and should be used when no exon deletions are found in the dystrophin gene in the blood.
Influence of bromazepam on cortical interhemispheric coherence
Authors: Sampaio Isabel , Puga Fernanda , Veiga Heloisa , Cagy Maurício , Piedade Roberto , Ribeiro Pedro
Published: April 2007

Benzodiazepines are among the most commonly prescribed medications due to their therapeutic efficacy in reducing anxiety and inducing sleep. Consequently, they have been widely employed in the pharmacological treatment of several disorders. Nevertheless, few studies have analyzed the effects of bromazepam in electroencephalographic activity (EEG). The present study aimed at investigating the modulatory effects of this drug on brain dynamics. Specifically, the effects of bromazepam (3mg) on EEG coherence were tested in a double-blind experiment. The sample, consisting of 10 healthy subjects (5 male and 5 female), was submitted to ten minutes of EEG recording. The electrophysiological measure (coherence) was analyzed across three experimental conditions: bromazepam, placebo 1, and placebo 2. Results indicate that bromazepam significantly increases cortical interhemispheric coherence.
A ínsula e o conceito de bloco cerebral central
Authors: Ribas Guilherme Carvalhal , Oliveira Evandro de
Published: April 2007

A caracterização anatômica de regiões encefálicas topograficamente bem definidas é particularmente útil para a prática neurocirúrgica por propiciar melhor compreensão da tridimensionalidade das suas estruturas e das lesões que as acometem, e por incitar uma maior sistematização dos seus acessos cirúrgicos. Neste sentido, se destaca no interior de cada hemisfério cerebral, um verdadeiro bloco único composto externamente pela ínsula, internamente pelos núcleos da base e tálamo, e que abriga no seu interior a cápsula interna. Com uma conformação predominantemente biconvexa e disposto entre a cisterna silviana e as cavidades ventriculares supratentoriais, esse bloco cerebral central morfologicamente se caracteriza como uma cabeça de cada metade do tronco encefálico, encoberta por todo o manto neocortical do seu hemisfério ao qual se une através de verdadeiros istmos constituídos pelos prolongamentos das diferentes partes da cápsula interna. Anteriormente e sob o sulco limitante anterior da ínsula se dispõem as fibras que compõem o ramo anterior da cápsula interna, superiormente e sob o seu sulco limitante superior se dispõem as fibras restantes do ramo anterior e as do joelho e do ramo posterior, entre as quais se destacam em importância funcional as fibras piramidais córtico-espinhais, e sob o sulco limitante inferior da ínsula se dispõem as partes retro e sub-lentiformes da cápsula interna, que englobam as radiações auditiva e visual. Lateralmente o bloco cerebral central tem a ínsula como um verdadeiro escudo externo das principais estruturas cerebrais subcorticais. As escolhas dos acessos microneurocirúrgicos às lesões relacionadas com o bloco cerebral central devem ter como maior preocupação as suas relações topográficas com o tálamo e com as fibras da cápsula interna.
A craniotomia pterional: descrição passo a passo
Authors: Chaddad Neto Feres , Ribas Guilherme Carvalhal , Oliveira Evandro de
Published: April 2007

O presente artigo visa descrever de forma didática e prática a realização da craniotomia fronto-têmporo-esfenoidal, que é usualmente denominada de pterional e que constitui a craniotomia mais utilizada na prática neurocirúrgica atual. Trata-se portanto de um texto fundamentalmente descritivo, dividido conforme as principais etapas da realização dessa craniotomia, e que descreve com detalhes a técnica com que o presente grupo de autores evolutivamente veio a realizá-la.
Craniectomia descompressiva para tratamento de hipertensão intracraniana secundária a infarto encefálico isquêmico extenso: análise de 34 casos
Authors: Nobre Márcio Costa , Monteiro Marcílio , Albuquerque Antônio Carlos de , Veloso Adriano Teixeira , Mendes Vandete Aguiar , Silveira Marise Fagundes , Souza Filho Lucídio Duarte de , Silva Marcelo José da , Bicalho Geraldo Vítor Cardoso
Published: April 2007

Infarto encefálico isquêmico extenso (IEIE) é a perda do suprimento sangüíneo de uma grande área cerebral, principalmente do território da artéria cerebral média. Pode evoluir com edema importante, hipertensão intracraniana e óbito em até 80% dos casos. OBJETIVO: Avaliar os resultados da craniectomia descompressiva no tratamento da hipertensão intracraniana secundária ao IEIE, comparando com os resultados de outros estudos publicados na literatura. MÉTODO: Foram analisados 34 pacientes com IEIE tratados clinicamente sem sucesso e que necessitaram de craniectomia descompressiva para controle da hipertensão intracraniana. RESULTADOS: 8 pacientes (23,52%) faleceram, 26 (76,47%) sobreviveram, sendo que 2 (7,70%) permaneceram em estado vegetativo. CONCLUSÃO: Os fatores idade acima de 50 anos e sexo masculino se associaram a maior risco de evolução para óbito. O nível de consciência à admissão e a área do retalho ósseo apresentaram valores próximos de significância estatística.
Síndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial
Authors: Vasconcellos Luiz Felipe Rocha , Leite Ana Claudia Celestino , Cavalcanti José Luis Sá , Moreira Denise Madeira , Feijó Denise , Souza Carolina Fischinger Moura de
Published: April 2007

As manifestações das doenças mitocondriais são variadas, acometendo, mais freqüentemente, órgãos com alto metabolismo aeróbico em que são mais abundantes, como, por exemplo, o sistema nervoso. O início dos sintomas em geral é observado na infância havendo relatos de início na idade adulta. Apresentamos caso atípico de doença mitocondrial associada à deleção do DNA mitocondrial em um homem de 39 anos com sintomas psiquiátricos configuraram quadro clínico inicial e somente 12 anos após o início dos sintomas surgiram alterações neurológicas. O diagnóstico da doença mitocondrial foi confirmado por biópsia de músculo sendo documentada deleção do DNA mitocondrial.
Infecções em dispositivos neurológicos implantáveis em crianças e adolescentes
Authors: Lima Márcia Maria Macêdo , Pereira Carlos Umberto , Silva Angela Maria
Published: April 2007

OBJETIVO: Determinar a freqüência, as causas, o sítio específico e as manifestações clínicas e laboratoriais das infecções em crianças e adolescentes após a implantação de dispositivos neurológicos (DVP) no Hospital Governador João Alves Filho (Aracaju SE). MÉTODO: Estudo prospectivo, observacional, não controlado de 50 pacientes, submetidos a DVP (58 procedimentos), no período de janeiro de 2003 a outubro de 2004. RESULTADOS: Observaram-se taxas de infecção por procedimento de 27,6%, taxas de infecção de índice cirúrgico zero, 1 e 2 de 25,7% e 30,4%, respectivamente (NNIS-CDC). A infecção de sítio cirúrgico foi a principal complicação com 50% das infecções. CONCLUSÃO: Taxa de infecção por procedimento, paciente e índice de risco cirúrgico mostraram-se elevadas. Não houve significância estatística com relação à idade, etiologia da hidrocefalia, ao tipo de procedimento (derivação primária e reinserção), tempo de internação pré-operatória, duração da cirurgia, antibioticoprofilaxia, cateter SNC prévio e índice de risco cirúrgico.
Aspectos eletromiográficos preditores da evolução motora de pacientes com neuroesquistossomose
Authors: Correia Carolina da Cunha , Ataíde Júnior Luiz , Lins Otávio Gomes , Ferreira Maria Lúcia Brito
Published: April 2007

A neuroesquistossomose na forma mielorradicular é freqüentemente observada nos pacientes que residem no Nordeste do Brasil. Apesar disso, a evolução dos seus distúrbios neurológicos e padrões eletromiográficos são pouco estudados nesse grupo de pacientes. O objetivo deste estudo foi descrever e comparar a evolução motora com as anormalidades eletromiográficas de pacientes com neuroesquistossomose. Foram realizadas eletromiografias dos membros inferiores em 21 pacientes com diagnóstico presuntivo de radiculomielite esquistossomótica. O padrão eletromiográfico de 95,2% dos casos foi de multirradiculopatia axonal lombo-sacra, havendo extensão variável de desnervação, com predomínio de L2 a S2. Foram identificados graus variáveis de paraparesia, havendo evolução motora mais favorável nos pacientes com envolvimento de menor número de raízes. A eletromiografia poderá fornecer dados prognósticos da evolução motora dos pacientes com radiculomielite esquistossomótica.
Prevalência de TDAH em quatro escolas públicas brasileiras
Authors: Fontana Rosiane da Silva , Vasconcelos Márcio Moacyr de , Werner Jr. Jairo , Góes Fernanda Veiga de , Liberal Edson Ferreira
Published: April 2007

OBJETIVO: Determinar a prevalência de transtorno de déficit de atenção/hiperatividade (TDAH) em crianças de quatro escolas públicas brasileiras. MÉTODO: Estudo de prevalência. A população consistiu em todos os alunos de 1ª à 4ª séries do ensino fundamental com idades entre 6 e 12 anos de quatro escolas públicas (CIEPs). Na primeira etapa do estudo, os professores efetuaram triagem para TDAH utilizando os critérios diagnósticos do Manual Diagnóstico e Estatístico de Transtornos Mentais - IV Edição (DSM-IV). A triagem resultou em dois grupos de crianças: suspeitos e não suspeitos. Na segunda etapa, os pais das crianças suspeitas foram convidados a comparecerem à escola para entrevista com os pesquisadores e preenchimento dos critérios diagnósticos de TDAH, anamnese e exame físico pediátrico e neurológico. Ao final desta etapa, as crianças foram classificadas em "casos" de TDAH e crianças "indeterminadas" (crianças que preenchiam parcialmente os critérios diagnósticos). RESULTADOS: De uma população de 602 alunos, 461 fizeram parte do estudo. A prevalência de TDAH considerando o conjunto das 4 escolas foi 13%. A proporção masculino: feminino foi 2:1. O subtipo de TDAH mais freqüente foi o misto com 61,7% dos casos. CONCLUSÃO: A prevalência de TDAH nestes escolares brasileiros (13%) é mais elevada que a prevalência tradicionalmente mencionada (3-5%). O sexo masculino foi mais acometido que o feminino e o subtipo de TDAH mais prevalente foi o misto, ambos de acordo com estudos anteriores.
A case of pervasive developmental disorder with chromosomal translocation 1-4
Authors: Tarelho Luciana G. , Assumpção Jr. Francisco B.
Published: April 2007

A 5-year-old girl is described as pervasive developmental disorder associated to chromosome 1-4 translocation, being such association not described till this moment in specialized literature.
Menkes' disease: case report
Authors: Agertt Fabio , Crippa Ana C.S. , Lorenzoni Paulo J. , Scola Rosana H. , Bruck Isac , Paola Luciano de , Silvado Carlos E. , Werneck Lineu C.
Published: April 2007

Menkes’ disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in Menkes’ disease are discussed.
Probable causal link between epilepsy and sleep apnea: case report
Authors: Dominici Michele , Pompeu Filho Fernando , Gomes Marleide da Mota
Published: April 2007

Patients with epilepsy were reported to have concomitant sleep apnea, but it has been rarely linked to the epilepsy itself. We present a case of a 28-year-old, obese man with secondary medically resistant partial complex epilepsy due to a brain trauma, with progressive snoring, and sleep agitation, apneas, and important daytime somnolence. It was noticed in the polysomnographic study that he had several sleep respiratory events, probably due both to the epileptic seizures and the sleep apnea syndrome as a co-morbidity. Apnea and epilepsy will be discussed. A careful video-EEG-polysomnography study is important in evaluating refractory epileptic patients and/or epileptic patients with snoring.
Merosin-positive congenital muscular dystrophy: neuroimaging findings
Authors: Matta André Palma da Cunha , Gonsalves Márcia de Castro Diniz
Published: April 2007

Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS). Some authors have shown that merosin-negative CMD patients may have encephalic metabolic disturbances. In order to study metabolic changes within the brain, the authors performed a magnetic resonance spectroscopy (MRS) study in a 1-year-old girl with merosin-positive CMD (MP-CMD). MRS of brain demonstrated that NAA/Cr ratio was decreased (1.52), while Cho/Cr ratio was increased (1.78). These findings suggest that metabolic changes in CNS can also be found in patients with MP-CMD.
Isolated pathetick nerve paresis by compression from a dolichoectatic basilar artery: case report
Authors: Maranhão-Filho Péricles , Souto Antonio Aversa Dutra do , Nogueira Jânio
Published: April 2007

The article describes a woman with 53 year-old that has presented diplopia when looking down and adopted a tilted head position in order to read for the last six months. The neuro-ophthalmic examination shows isolated right superior oblique muscle paresis. The magnetic resonance and the angioresonance show the dolicoectatic basilar artery compressing the right ventral lateral brainstem.
Estratégias de enfrentamento do estresse desenvolvidas por estudantes de Medicina da Universidade Federal de Santa Catarina
Authors: Zonta Ronaldo , Robles Ana Carolina Couto , Grosseman Suely
Published: April 2007

Em um estudo qualitativo sobre a qualidade de vida de estudantes de Medicina, na Universidade Federal de Santa Catarina, emergiu o tema "Estratégias de enfrentamento do estresse". O objetivo deste artigo é apresentar dados relativos a este tema, na perspectiva de melhorar a qualidade de vida do estudante de Medicina. Seguindo princípios da pesquisa qualitativa, o tema proposto é apresentado com base na análise dos dados empíricos, relativos a depoimentos selecionados do conjunto de dados dos 25 participantes do estudo e no diálogo com a literatura. Entre os que desenvolveram estratégias, as apontadas incluíam valorização dos relacionamentos interpessoais e de fenômenos do cotidiano, equilíbrio entre estudo e lazer, organização do tempo, cuidados com a saúde, alimentação e o sono, prática de atividade física, religiosidade, trabalhar a própria personalidade para lidar com situações adversas e procura por assistência psicológica. Sugere-se maior preocupação dos envolvidos na educação médica com a qualidade de vida do estudante de Medicina e o desenvolvimento de estratégias para promovê-la ou que preparem o estudante para lidar com o estresse durante a formação médica.
Micropropagação de Cabralea canjerana
Authors: Rocha Silvana Cruz da , Quorim Marguerite , Ribas Luciana Lopes Fortes , Koehler Henrique Soares
Published: April 2007

A Cabralea canjerana (Vell.) Mart. (Meliaceae) (canjarana) é uma espécie arbórea nativa brasileira importante para fornecimento de madeira de boa qualidade. As sementes desta espécie não podem ser armazenadas por muito tempo e, por tanto, existe a necessidade do desenvolvimento de técnicas alternativas de propagação como a micropropagação. Neste trabalho, foram realizados experimentos de multiplicação utilizando segmentos nodais, retirados de plantas germinadas in vitro. Os segmentos foram inoculados em meio de cultura MS ou WPM, adicionado de 6-benzilaminopurina (BAP) e, ou, 2-isopenteniladenina (2-iP) nas concentrações de 2,5 ou 5 µM. Microestacas de rebrotas foram colocadas em meio de cultura MS/2, com a metade da concentração dos sais do meio MS, adicionado de ácido indol 3-butírico (AIB) (0, 2,5 e 5 µM). Após sete dias, foram transferidas para meio MS/2 sem auxina e na luz. Na fase de multiplicação, o meio de cultura MS foi mais adequado que o meio WPM. O segmento nodal, em presença de 2,5 µM de BAP, propiciou um dos melhores resultados, com uma taxa de multiplicação de 1,77 por mês, em meio de cultura MS. O enraizamento das microestacas oriundas de rebrotas foi de 87,5% em presença de 5 µM de AIB durante sete dias. A aclimatização foi realizada em casa de vegetação e proporcionou 90% de sobrevivência das mudas após 30 dias. A micropropagação da canjarana a partir de segmentos nodais de mudas cultivadas in vitro é viável para a multiplicação dessa espécie.
Isoenzimas na diferenciação de sementes de três espécies do gênero Euterpe
Authors: Martins Cibele Chalita , Bovi Marilene Leão Alves , Mori Edson S. , Nakagawa João
Published: April 2007

A análise e o estudo das características morfológicas de sementes e plântulas de palmito-vermelho (Euterpe espiritosantensis Fernandes), juçara (E. edulis Mart.) e açaí (E. oleracea Mart.) não permitem que o analista de sementes, ou o melhorista, faça a identificação e a diferenciação inequívoca das espécies. Neste trabalho, buscou-se avaliar o potencial discriminante da técnica de eletroforese para sementes dessas espécies, utilizando-se nove sistemas enzimáticos. Foram realizadas análises de eletroforese de isoenzimas, testando-se 30 embriões (0 a 1 mm de protrusão) de cada espécie, por corrida e por sistema enzimático. Para a identificação das bandas e determinação do perfil eletroforético foram realizadas, no mínimo, 30 corridas por sistema enzimático avaliado, em gel de poliacrilamida (7,5%). Constatou-se que, dentre as isoenzimas testadas, a polifenol-oxidase e a fosfatase-ácida mostraram-se instáveis, raramente possibilitando a visualização das bandas. As isoenzimasalfa e beta-esterase nem sempre possibilitaram o aparecimento de bandas visíveis, principalmente para E. espiritosantensis, mas foram capazes de distinguir E. edulis de E. oleracea. A glucose-6-fosfato desidrogenase e a glutamato-desidrogenase revelaram perfis eletroforéticos nítidos em todas as corridas, mas a posição das bandas não permitiu a diferenciação das três espécies estudadas. As isoenzimas mais eficientes na avaliação da pureza genética e na diferenciação das sementes foram fosfoglucomutase, fosfoglucose isomerase e peroxidase, por apresentarem perfis eletroforéticos distintos.
Use data from permanent sampling points in growth and yield modeling
Authors: Pereira Alexandre José , Leite Helio Garcia , Campos João Carlos Chagas , Souza Agostinho Lopes de
Published: April 2007

This study was carried to evaluate the efficiency of the Bitterlich method in growth and yield modeling of the even-aged Eucalyptus stands. 25 plots were setup in Eucalyptus grandis cropped under a high bole system in the Central Western Region of Minas Gerais, Brazil. The sampling points were setup in the center of each plot. The data of four annual mesurements were colleted and used to adjust the three model types using the age, the site index and the basal area as independent variables. The growths models were fitted for volume and mass of trees. The efficiency of the Bitterlich method was confirmed for generating the data for growth and yield modeling.
Riqueza e similaridade florística de oito remanescentes florestais no norte de Minas Gerais, Brasil
Authors: Santos Rubens Manoel dos , Vieira Fábio de Almeida , Fagundes Marcílio , Nunes Yule Roberta Ferreira , Gusmão Eduardo
Published: April 2007

Os objetivos deste estudo foram caracterizar e comparar a composição florística de oito fragmentos de Mata Seca Calcária e Caatinga Arbórea localizados no norte do Estado de Minas Gerais. O levantamento das espécies arbóreas foi realizado através de visitas periódicas aos fragmentos para coleta de material botânico. Nos oito fragmentos foram encontradas 114 espécies arbóreas pertencentes a 40 famílias botânicas. Dentre as 89 espécies encontradas nos fragmentos de Mata Seca, 37 (42%) foram peculiares a essa formação. No entanto, das 75 espécies amostradas nos remanescentes de Caatinga Arbórea, 25 (33%) ocorreram apenas nesses fragmentos. A análise de agrupamento sugere que a composição florística dos fragmentos é afetada pela fitofisionomia e pelas condições bioecológicas locais a que estes fragmentos estão submetidos. Além disso, a relação observada entre a área dos fragmentos e o número de espécies arbóreas, evidenciou que área é um bom indicador da riqueza de espécies arbóreas nos fragmentos florestais. Portanto, os resultados deste estudo indicaram que fatores históricos (fitofisionomia) e ecológicos (área dos fragmentos e ocorrência de perturbações antrópicas) constituem importantes elementos caracterizadores da composição e riqueza de espécies em fragmentos florestais do norte de Minas Gerais.