Página 1 dos resultados de 6043 itens digitais encontrados em 0.028 segundos

Recurrent neuromyelitis optica in Brazilian patients: clinical, immunological, and neuroimaging characteristics

ADONI, T.; LINO, A. M. M.; GAMA, P. D. da; APOSTOLOS-PEREIRA, S. L.; MARCHIORI, P. E.; KOK, F.; CALLEGARO, D.
Fonte: SAGE PUBLICATIONS LTD Publicador: SAGE PUBLICATIONS LTD
Tipo: Artigo de Revista Científica
ENG
Relevância na Pesquisa
65.98%
Neuromyelitis optica has not been thoroughly studied in Brazilian patients following the discovery of NMO-IgG and its specific antigen aquaporin-4. In this study we aimed to describe the clinical NMO-IgG immunological status and neuroimaging characteristics of recurrent neuromyelitis optica in a series Brazilian patients. We undertook a retrospective study of 28 patients with recurrent neuromyelitis optica, according to 1999 Wingerchuk`s diagnostic criteria. Data on NMO-IgG status, clinical features, and MRI findings were analyzed. Three men and 25 women were evaluated. Median age at onset of disease was 26 years (range 7-55); median time of follow-up was 7 years (range 2-14). The mean time elapsed between the first and the second attack was 17 months (median 8.5; range 2-88). NMO-IgG was detected in 18 patients (64.3%). Four patients died due to respiratory failure. Most patients presented with cervical (36%) and cervical-thoracic myelitis (46.4%). Holocord lesion was the most common pattern of involvement (50%) on the axial plane. We did not find a statistical association between myelitis extension and NMO-IgG result. Our series of Brazilian patients showed a younger age of onset than previously reported. In our series, in contrast to previous reports...

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome

GASPARIN, Maria Regina R.; CRISPIM, Felipe; PAULA, Silvia L.; FREIRE, Maria Beatriz S.; DALBOSCO, Ivaldir S.; MANNA, Thais Della; SALLES, Joao Eduardo N.; GASPARIN, Fabio; GUEDES, Alexis; MARCANTONIO, Joao M.; GAMBINI, Marcio; SALIM, Camila P.; MOISES, Re
Fonte: BIO SCIENTIFICA LTD Publicador: BIO SCIENTIFICA LTD
Tipo: Artigo de Revista Científica
ENG
Relevância na Pesquisa
45.95%
Objective: Wolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder with an autosomal recessive pattern of inheritance. The gene for WS, WFS1, was identified on chromosome 4p16 and most WS patients carry mutations in this gene. However. some studies have provided evidence for genetic heterogeneity and the genotype-phenotype relationships are not clear. Our aim was to ascertain the spectrum of WFS1 mutations in Brazilian patients with WS and to examine the phenotype-genotype relationships in these patients. Design and methods: Clinical characterization and analyses of the WFS1. gene were performed in 27 Brazilian patients with WS from 19 families. Results: We identified 15 different mutations in the WFS1 gene in 26 patients, among which nine are novel. All mutations occurred in exon 8, except for one missense mutation which was located in exon 5. Although we did not find any clear phenotype-genotype relationship in patients with mutations in exon 8, the homozygous missense mutation in exon 5 was associated with a mild phenotype: onset of diabetes mellitus and optic atrophy during adulthood with good metabolic control being achieved with low doses of sulfonylurea Conclusions: Our data show that WFS1 is the major gene involved in WS in Brazilian patients and most mutations are concentrated in exon 8. Also...

HLA-DRB1*allele-associated genetic susceptibility and protection against multiple sclerosis in Brazilian patients

KAIMEN-MACIEL, Damacio Ramon; REICHE, Edna Maria Vissoci; BORELLI, Sueli Donizete; MORIMOTO, Helena Kaminami; MELO, Fabiano Cavalcante; LOPES, Josiane; DORIGON, Raffael Ferdinando; CAVALET, Cristiane; YAMAGUCHI, Elton Makino; SILVEIRA, Thiago Leite; SILVA
Fonte: SPANDIDOS PUBL LTD Publicador: SPANDIDOS PUBL LTD
Tipo: Artigo de Revista Científica
ENG
Relevância na Pesquisa
55.96%
Multiple sclerosis (MS) is a chronic autoimmune demyelinating disease of the central nervous system that causes neurological disorders in young adults. Previous studies in various populations highlighted an association between the HLA-DRB1*1.5 allele and MS. This study investigated the association between HLA-DRB1*15 and other HLA-DRB1 alleles and MS in a Brazilian Caucasian population sample from Londrina, Southern Brazil. HLA-DRB1 alleles were analyzed by polymerase chain reaction with specific sequence oligonucleotide primers in 119 MS patients and in 305 healthy blood donors as a control. Among the MS patients, 89 (75.0%) presented with relapsing remitting MS, 24 (20.0%) with secondary progressive MS and 6 (5.0%) with primary progressive MS. The frequency of the HLA-DRB1*15 allele observed in the MS Brazilian patients was similar to findings reported in previous studies carried out in populations worldwide. However, the results showed a higher frequency of the HLA-DRB1*15 allele in the MS patients compared to the controls, with a relative frequency of 0.1050 (10.50%) and 0.0443 (4.4%), respectively (OR=2.53; 95% CI 1.43-4.46; p=0.0009). A protector allele was also detected. The frequency of the HLA-DRB1*11 allele was reduced in the MS patients compared to the controls...

Ethnic Influence in Clinical and Functional Measures of Brazilian Patients with Spondyloarthritis

Skare, Thelma L.; Bortoluzzo, Adriana B.; Goncalves, Celio R.; Braga da Silva, Jose Antonio; Ximenes, Antonio Carlos; Bertolo, Manoel B.; Ribeiro, Sandra L. E.; Keiserman, Mauro; Menin, Rita; Carneiro, Sueli; Azevedo, Valderilio F.; Vieira, Walber P.; Alb
Fonte: J RHEUMATOL PUBL CO; TORONTO Publicador: J RHEUMATOL PUBL CO; TORONTO
Tipo: Artigo de Revista Científica
ENG
Relevância na Pesquisa
56.01%
Objective. Spondyloarthritides (SpA) can present different disease spectra according to ethnic background. The Brazilian Registry of Spondyloarthritis (RBE) is a nationwide registry that comprises a large databank on clinical, functional, and treatment data on Brazilian patients with SpA. The aim of our study was to analyze the influence of ethnic background in SpA disease patterns in a large series of Brazilian patients. Methods. A common protocol of investigation was prospectively applied to 1318 SpA patients in 29 centers distributed through the main geographical regions in Brazil. The group comprised whites (65%), African Brazilians (31.3%), and people of mixed origins (3.7%). Clinical and demographic variables and various disease index scores were compiled. Ankylosing spondylitis (AS) was the most frequent disease in the group (65.1%); others were psoriatic arthritis (18.3%), undifferentiated SpA (6.8%), enteropathic arthritis (3.7%), and reactive arthritis (3.4%). Results. White patients were significantly associated with psoriasis (p = 0.002), positive HLA-B27 (p = 0.014), and use of corticosteroids (p < 0.0001). Hip involvement (p = 0.02), axial inflammatory pain (p = 0.04), and radiographic sacroiliitis (p = 0.025) were associated with African Brazilian descent. Sex distribution...

Análise dos lipídios biliares no cálculo e na bile em portadores brasileiros de litíase biliar; Analysis of gallstones and biliar lipids in gallbladder disease of Brazilians patients

Souza, Miriam Karine de
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 24/02/2010 PT
Relevância na Pesquisa
55.84%
INTRODUÇÃO: A litíase biliar é uma doença do trato digestivo que apresenta prevalência variada em diferentes grupos étnicos e que gera altos gastos aos sistemas de saúde. A possibilidade de aplicação de tratamento não invasivo medicamentoso está direcionada a presença de cálculo de colesterol o que leva a necessidade de identificar corretamente os pacientes que podem beneficiar-se com o tratamento. No Brasil estima-se uma prevalência da doença em 9,3% da população em geral. Porém, ainda não há estudos que demonstrem a composição de cálculo de colesterol e pigmentos nos pacientes, bem como não há estudos de análise dos lipídios biliares e sua relação com os mecanismos fisiopatológicos da doença. Nossos objetivos foram analisar a composição do cálculo e da bile e compará-la com fatores pré-dispositivos da doença como tempo de nucleação e hiper saturação de colesterol em pacientes brasileiros. MÉTODOS: Foram analisadas 72 amostras de bile vesicular e cálculo biliar de pacientes com litíase biliar submetidos a procedimento cirúrgico laparoscópico em diferentes hospitais da grande São Paulo. Quatorze amostras de bile vesicular de pacientes que foram submetidos à laparoscopia por problemas gastrointestinais...

Neuromielite óptica recorrente - aspectos clínicos, imunológicos e imagenológicos; Recurrent neuromyelitis optica in brazilian patients: clinical, immunological, and neuroimaging characteristics

Adoni, Tarso
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 15/02/2011 PT
Relevância na Pesquisa
45.97%
INTRODUÇÃO: A neuromielite óptica (NMO) recorrente não foi completamente estudada em pacientes brasileiros após a descoberta do autoanticorpo sérico NMO-IgG e seu antígeno específico aquaporina-4. Neste trabalho, descrevemos os aspectos clínicos, imunológicos e de ressonância magnética (RM) de pacientes portadores de NMO recorrente. MÉTODOS: Foram estudados retrospectivamente vinte e oito pacientes portadores de NMO recorrente regularmente acompanhados no Ambulatório de Doenças Desmielinizantes do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo e que preenchiam os critérios diagnósticos originalmente propostos em 1999. Foram analisados os dados relativos ao resultado da pesquisa sérica do NMO-IgG, características clínicas e de RM. RESULTADOS: Três homens e 25 mulheres foram estudados. A mediana de idade de instalação da doença foi 26 anos (intervalo: 755); a mediana do tempo de seguimento foi de sete anos (intervalo: 214). O tempo médio decorrido entre o primeiro e o segundo episódios clínicos foi de 17 meses (mediana: 8,5; intervalo 288). A mediana da Escala Expandida do Estado de Incapacidade (EDSS) na última avaliação foi de 5,5 (intervalo de 2 a 10). Não houve diferença estatística entre o resultado do NMO-IgG e o grau de incapacidade medido pela EDSS (p = 0...

Nuclear phenotypes and morphometry of human secretory prostate cells: A comparative study of benign and malignant lesions in Brazilian patients

Taboga, Sebastião R.; Santos, Adriana B. dos; Gonzatti, Adriana G. R.; Vidal, Benedicto C.; Mello, Maria Luiza S.
Fonte: Universidade Estadual Paulista Publicador: Universidade Estadual Paulista
Tipo: Artigo de Revista Científica Formato: 315-322
ENG
Relevância na Pesquisa
65.84%
Prostatic lesions in Brazilian patients with benign prostatic hyperplasia (BPH, 26 cases) or adenocarcinoma (AC, 25 cases) were compared by qualitative microscopy and morphometric analysis. In 12 cases of BPH, prostate regions with no histological alterations were considered as controls (Ct). Archival material consisted of formalin-fixed, paraffin-embedded specimens obtained from prostatic transurethral resection and radical prostatectomy. Haematoxylin/eosin (HE)-stained sections were used to estimate the nuclear areas, perimeters and form factor values. HE-stained sections from AC specimens were also used for Gleason grading. BPH, AC and Ct could be discriminated by their nuclear areas and nuclear perimeters, but not by the nuclear form factor parameter. No significant differences were found when the AC data were compared using the combined version or the predominant grade version of the Gleason score (p = 0.8380 for nuclear area; p = 0.6076 for nuclear perimeter; p = 0.9202 for nuclear form factor; n = 200 nuclei per patient). This finding indicates that there is extensive heterogeneity in the size and shape of the nucleus in AC cells. These results also show that although the nuclear morphometry served to discriminate BPH and AC from each other and from Ct...

Ethnic Influence in Clinical and Functional Measures of Brazilian Patients with Spondyloarthritis

Skare, Thelma L.; Bortoluzzo, Adriana B.; Goncalves, Celio R.; Braga da Silva, Jose Antonio; Ximenes, Antonio Carlos; Bertolo, Manoel B.; Ribeiro, Sandra L. E.; Keiserman, Mauro; Menin, Rita; Carneiro, Sueli; Azevedo, Valderilio F.; Vieira, Walber P.; Alb
Fonte: J Rheumatol Publ Co; Toronto Publicador: J Rheumatol Publ Co; Toronto
Tipo: Artigo de Revista Científica
ENG
Relevância na Pesquisa
56.01%
Objective. Spondyloarthritides (SpA) can present different disease spectra according to ethnic background. The Brazilian Registry of Spondyloarthritis (RBE) is a nationwide registry that comprises a large databank on clinical, functional, and treatment data on Brazilian patients with SpA. The aim of our study was to analyze the influence of ethnic background in SpA disease patterns in a large series of Brazilian patients. Methods. A common protocol of investigation was prospectively applied to 1318 SpA patients in 29 centers distributed through the main geographical regions in Brazil. The group comprised whites (65%), African Brazilians (31.3%), and people of mixed origins (3.7%). Clinical and demographic variables and various disease index scores were compiled. Ankylosing spondylitis (AS) was the most frequent disease in the group (65.1%); others were psoriatic arthritis (18.3%), undifferentiated SpA (6.8%), enteropathic arthritis (3.7%), and reactive arthritis (3.4%). Results. White patients were significantly associated with psoriasis (p = 0.002), positive HLA-B27 (p = 0.014), and use of corticosteroids (p < 0.0001). Hip involvement (p = 0.02), axial inflammatory pain (p = 0.04), and radiographic sacroiliitis (p = 0.025) were associated with African Brazilian descent. Sex distribution...

Rett syndrome: clinical and molecular characterization of two Brazilian patients

Stachon,Andrea; Assumpção Jr,Francisco Baptista; Raskin,Salmo
Fonte: Academia Brasileira de Neurologia - ABNEURO Publicador: Academia Brasileira de Neurologia - ABNEURO
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/03/2007 EN
Relevância na Pesquisa
55.93%
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.

Chronic hepatitis C virus infections in Brazilian patients: association with genotypes, clinical parameters and response to long term alpha interferon therapy

BASSIT,Leda; DA SILVA,Luiz C.; RIBEIRO-DOS-SANTOS,Gabriela; MAERTENS,Geert; CARRILHO,Flair J.; FONSECA,Luis E. P.; ALVES,Venâncio A. F.; GAYOTTO,Luis C.C.; PEREIRA,Analice N.; TAKEI,Kioko; CHAMONE,Dalton; SÁEZ-ALQUÉZAR,Amadeo
Fonte: Instituto de Medicina Tropical Publicador: Instituto de Medicina Tropical
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/05/1999 EN
Relevância na Pesquisa
65.95%
The present study assessed the clinical significance of hepatitis C virus (HCV) genotypes and their influence on response to long term recombinant-interferon-alpha (r-IFN-a) therapy in Brazilian patients. One hundred and thirty samples from patients previously genotyped for the HCV and with histologically confirmed chronic hepatitis C (CH-C) were evaluated for clinical and epidemiological parameters (sex, age, time of HCV infection and transmission routes). No difference in disease activity, sex, age or mode and time of transmission were seen among patients infected with HCV types 1, 2 or 3. One hundred and thirteen of them were treated with 3 million units of r-IFN-a, 3 times a week for 12 months. Initial response (IR) was significantly better in patients with genotype 2 (100%) and 3 (46%) infections than in patients with genotype 1 (29%) (p < 0.005). Among subtypes, difference in IR was observed between 1b and 2 (p < 0.005), and between 1b and 3a (p < 0.05). Sustained response (SR) was observed in 12% for (sub)type 1a, 13% for 1b, 19% for 3a, and 40% for type 2; significant differences were found between 1b and 2 (p < 0.001), and between 1b and 3a (p < 0.05). Moreover...

Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients

Abreu-Silva,R.S.; Lezirovitz,K.; Braga,M.C.C.; Spinelli,M.; Pirana,S.; Della-Rosa,V.A.; Otto,P.A.; Mingroni-Netto,R.C.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/02/2006 EN
Relevância na Pesquisa
55.9%
Mitochondrial mutations are responsible for at least 1% of the cases of hereditary deafness, but the contribution of each mutation has not yet been defined in African-derived or native American genetic backgrounds. A total of 203 unselected hearing-impaired patients were screened for the presence of the mitochondrial mutation A1555G in the 12S rRNA gene and mutations in the tRNA Ser(UCN) gene in order to assess their frequency in the ethnically admixed Brazilian population. We found four individuals with A1555G mutation (2%), which is a frequency similar to those reported for European-derived populations in unselected samples. On the other hand, complete sequencing of the tRNA Ser(UCN) did not reveal reported pathogenic substitutions, namely A7445G, 7472insC, T7510C, or T7511C. Instead, other rare substitutions were found such as T1291C, A7569G, and G7444A. To evaluate the significance of these findings, 110 "European-Brazilians" and 190 "African-Brazilians" unrelated hearing controls were screened. The T1291C, A7569G and G7444A substitutions were each found in about 1% (2/190) of individuals of African ancestry, suggesting that they are probably polymorphic. Our results indicate that screening for the A1555G mutation is recommended among all Brazilian deaf patients...

Coffee has hepatoprotective benefits in Brazilian patients with chronic hepatitis C even in lower daily consumption than in American and European populations

Machado,Silmara Rodrigues; Parise,Edison Roberto; Carvalho,Luciana de
Fonte: Brazilian Society of Infectious Diseases Publicador: Brazilian Society of Infectious Diseases
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/04/2014 EN
Relevância na Pesquisa
55.93%
The potential role of coffee as a hepatoprotective substance for chronic liver diseases has been widely discussed. Our main aim was to evaluate the effect of coffee intake regarding clinical, biochemical tests and liver biopsy data in treatment naïve patients with chronic hepatitis C. One hundred and thirty-six patients with chronic hepatitis C, diagnosed through liver biopsy, or by means of clinical, ultrasound or endoscopic signs of cirrhosis, were assessed by determination of biochemical tests, metabolic and morphological alterations. Food frequency was scrutinized by using a structured questionnaire. Coffee intake represented more than 90% of the total daily caffeine, and the 75th percentile was 4-Brazilian coffee-cup/day (>255mL/day or >123mg caffeine/day). According to caffeine intake, patients were divided into two groups (< or >123mg caffeine/day). Patients with higher ingestion of caffeine had lower serum levels of aspartate aminotransferase (× upper limit of normal) (1.8±1.5 vs 2.3±1.5, p=0.04), lower frequencies of advanced (F3, F4) fibrosis (23.5% vs 54.5%, p<0.001) and of histological activity grade (A3, A4) observed in liver biopsies (13.8% vs 36.9%, p<0.001). By multivariate logistic regression, fibrosis was independently associated with caffeine intake (OR- 0.16; 95%CI - 0.03-0.80; p=0.026)...

Haptoglobin phenotypes in Brazilian patients with leukemia

Campregher,Paulo Vidal; Lorand-Metze,Irene; Grotto,Helena Zerlotti Wolf; Sonati,Maria de Fatima
Fonte: Sociedade Brasileira de Patologia Clínica; Sociedade Brasileira de Patologia; Sociedade Brasileira de Citopatologia Publicador: Sociedade Brasileira de Patologia Clínica; Sociedade Brasileira de Patologia; Sociedade Brasileira de Citopatologia
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/10/2004 EN
Relevância na Pesquisa
55.86%
Haptoglobin (HP) phenotypes were determined in 188 Brazilian patients with the four most common types of leukemia: acute myeloid leukemia (AML), chronic myeloid leukemia (CML), acute lymphoblastic leukemia (ALL) and chronic lymphocytic leukemia (CLL), and were compared to 197 normal controls. We could not confirm the previously suggested increased incidence of the HP1 gene and the HP1-1 phenotype among leukemic patients. A higher frequency of haptoglobinemics (HP0) was observed among patients, in agreement with previous findings.

Schistosomiasis haematobia in Brazilian patients: clinical and renal functional evaluation with 99mTc-DTPA

D’Almeida,J.; Maliska,C.; Pellegrini,P. M.; Penas,M. E.; Collares,R. A.; Cruz,M. G. A.
Fonte: Centro de Estudos de Venenos e Animais Peçonhentos - CEVAP, Universidade Estadual Paulista - UNESP Publicador: Centro de Estudos de Venenos e Animais Peçonhentos - CEVAP, Universidade Estadual Paulista - UNESP
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2007 EN
Relevância na Pesquisa
55.8%
The present study was carried out at the Army Central Hospital, Rio de Janeiro, Brazil, from September 2000 to December 2001, employing diethylenetriamine penta-acetic acid labeled with technetium-99m (99mTc-DTPA) to evaluate the renal function of nineteen symptomatic patients infected with S. haematobium during a peace mission in Mozambique. Results evidenced that the most frequent clinical manifestations were hematuria (68.4%) and low back pain (68.4%) and 73.7% patients had altered dynamic renal scintigraphy expressed by an increase in the excretory phase independently of the symptoms duration; furthermore, none of them had mechanical obstructive pattern. Schistosoma haematobium glomerulopathy could be considered a pathological finding without correlation with the disease clinical manifestations.

Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia

RAMALHO, V.D.; OLIVEIRA JÚNIOR, E.B.; TANI, S.M.; ROXO JÚNIOR, P.; VILELA, M.M.S.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica
ENG
Relevância na Pesquisa
55.84%
Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood. We evaluated 5 male Brazilian patients, ranging from 3 to 10 years of age, from unrelated families, whose diagnosis was based on recurrent infections, markedly reduced levels of IgM, IgG and IgA, and circulating B cell numbers <2%. BTK gene analysis was carried out using PCR-SSCP followed by sequencing. We detected three novel (Ala347fsX55, I355T, and Thr324fsX24) and two previously reported mutations (Q196X and E441X). Flow cytometry revealed a reduced expression of BTK protein in patients and a mosaic pattern of BTK expression was obtained from mothers, indicating that they were XLA carriers.

Estudo molecular da neuropatia optica hereditaria de Leber em pacientes brasileiros; Molecular study of Leber's hereditary optic neuropathy in Brazilian patients

Paulo Mauricio do Amor Divino Miranda Miranda
Fonte: Biblioteca Digital da Unicamp Publicador: Biblioteca Digital da Unicamp
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 24/02/2010 PT
Relevância na Pesquisa
45.98%
Nos seres humanos, a visão é o sentido que retrata com melhor fidelidade o ambiente que os cerca. A ausência do sentido da visão é definida como cegueira. As conseqüências da cegueira são problemas de saúde pública importantes, pois têm um impacto significativamente negativo sobre o desenvolvimento econômico e social dos indivíduos afetados. A perda visual pode ser resultado de lesão nos centros nervosos superiores, nas vias ópticas ou em estruturas do próprio olho. As causas vão desde traumas oculares até doenças congênitas, como: glaucoma congênito, catarata congênita e Neuropatia Óptica Hereditária de Leber (LHON). A LHON é uma doença, causada por alterações no DNA mitocondrial, caracterizada pela perda repentina da visão em ambos os olhos, devido a uma degeneração do nervo óptico. Atualmente, 17 principais mutações associadas à LHON foram registradas, onde três dessas mutações representam 95% dos casos (mutações primárias) e as 14 mutações subseqüentes representam apenas 5% do total (mutações secundárias). Não foram relatados, até o momento, estudos que definam a freqüência das mutações ou estudos populacionais de prevalência no Brasil. Desta forma, o presente estudo teve como principal objetivo definir a freqüência das mutações da LHON em pacientes brasileiros. Foram avaliados 55 pacientes com hipótese diagnóstica de LHON ou neuropatia óptica adquirida de origem desconhecida. Mutações primárias (G11778A...

Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia

RAMALHO, V.D.; OLIVEIRA JÚNIOR, E.B.; TANI, S.M.; ROXO JÚNIOR, P.; VILELA, M.M.S.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica
ENG
Relevância na Pesquisa
55.84%
Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood. We evaluated 5 male Brazilian patients, ranging from 3 to 10 years of age, from unrelated families, whose diagnosis was based on recurrent infections, markedly reduced levels of IgM, IgG and IgA, and circulating B cell numbers <2%. BTK gene analysis was carried out using PCR-SSCP followed by sequencing. We detected three novel (Ala347fsX55, I355T, and Thr324fsX24) and two previously reported mutations (Q196X and E441X). Flow cytometry revealed a reduced expression of BTK protein in patients and a mosaic pattern of BTK expression was obtained from mothers, indicating that they were XLA carriers.

Internal consistency of a Brazilian version of the unified Huntington's disease rating scale

Tumas,Vitor; Camargos,Sarah Teixeira; Jalali,Paulo Samandar; Galesso,Adriano de Paula; Marques Jr,Wilson
Fonte: Academia Brasileira de Neurologia - ABNEURO Publicador: Academia Brasileira de Neurologia - ABNEURO
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/12/2004 EN
Relevância na Pesquisa
45.96%
We evaluated the reliability of a translated Brazilian version of the Unified Huntington's Disease Rating Scale (UHDRS) to establish the reproducibility of the scale in a population that differs substantially from that on which the scale was originally validated. After a training period with the video and guidelines requested from the Huntington Study Group, we applied the UHDRS, except for the cognitive tests, to a group of 21 Brazilian patients with a molecular diagnosis of Huntington's disease (HD). We found a high degree of internal consistency of the motor section of the UHDRS (Cronbach's alpha= 0.841). There was a negative correlation between the total motor score and the functional assessment, the independence scale and the functional capacity. There was a positive correlation between these 3 scales of functional evaluation and a negative correlation between the age of onset of the disease and the number of CAG repeats. The behavioral scale and disease duration were not correlated with any factor. The clinical characteristics of this sample of patients as described by the UHDRS were roughly similar to those reported in the original validation studies and the correlations described were similar to those reported previously. We conclude that the Brazilian version of the UHDRS is reliable and valid to study patients with HD in the Brazilian setting...

Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia

Ramalho,V.D.; Oliveira Júnior,E.B.; Tani,S.M.; Roxo Júnior,P.; Vilela,M.M.S.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/09/2010 EN
Relevância na Pesquisa
55.84%
Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood. We evaluated 5 male Brazilian patients, ranging from 3 to 10 years of age, from unrelated families, whose diagnosis was based on recurrent infections, markedly reduced levels of IgM, IgG and IgA, and circulating B cell numbers <2%. BTK gene analysis was carried out using PCR-SSCP followed by sequencing. We detected three novel (Ala347fsX55, I355T, and Thr324fsX24) and two previously reported mutations (Q196X and E441X). Flow cytometry revealed a reduced expression of BTK protein in patients and a mosaic pattern of BTK expression was obtained from mothers, indicating that they were XLA carriers.

Brazilian version of the Berg balance scale

Miyamoto,S.T.; Lombardi Junior,I.; Berg,K.O.; Ramos,L.R.; Natour,J.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/09/2004 EN
Relevância na Pesquisa
45.99%
The purpose of the present study was to translate and adapt the Berg balance scale, an instrument for functional balance assessment, to Brazilian-Portuguese and to determine the reliability of scores obtained with the Brazilian adaptation. Two persons proficient in English independently translated the original scale into Brazilian-Portuguese and a consensus version was generated. Two translators performed a back translation. Discrepancies were discussed and solved by a panel. Forty patients older than 65 years and 40 therapists were included in the cultural adaptation phase. If more than 15% of therapists or patients reported difficulty in understanding an item, that item was reformulated and reapplied. The final Brazilian version was then tested on 36 elderly patients (over age 65). The average age was 72 years. Reliability of the measure was assessed twice by one physical therapist (1-week interval between assessments) and once by one independent physical therapist. Descriptive analysis was used to characterize the patients. The intraclass correlation coefficient (ICC) and Pearson's correlation coefficient were computed to assess intra- and interobserver reliability. Six questions were modified during the translation stage and cultural adaptation phase. The ICC for intra- and interobserver reliability was 0.99 (P < 0.001) and 0.98 (P < 0.001)...