Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 8 de 8
Filtrar
1.
Am J Med Genet A ; 188(3): 760-767, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34806811

RESUMO

Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N-acetyl-alpha-d-glucosaminidase (NAGLU), caused by biallelic pathogenic variants in the NAGLU gene, which leads to storage of heparan sulfate and a series of clinical consequences which hallmark is neurodegeneration. In this study clinical, epidemiological, and biochemical data were obtained from MPS IIIB patients diagnosed from 2004-2019 by the MPS Brazil Network ("Rede MPS Brasil"), which was created with the goal to provide an easily accessible and comprehensive investigation of all MPS types. One hundred and ten MPS IIIB patients were diagnosed during this period. Mean age at diagnosis was 10.9 years. Patients were from all over Brazil, with a few from abroad, with a possible cluster of MPS IIIB identified in Ecuador. All patients had increased urinary levels of glycosaminoglycans and low NAGLU activity in blood. Main clinical symptoms reported at diagnosis were coarse facies and neurocognitive regression. The most common variant was p.Leu496Pro (30% of alleles). MPS IIIB seems to be relatively frequent in Brazil, but patients are diagnosed later than in other countries, and reasons for that probably include the limited awareness about the disease by health professionals and the difficulties to access diagnostic tests, factors that the MPS Brazil Network is trying to mitigate.


Assuntos
Mucopolissacaridose III , Alelos , Brasil/epidemiologia , Criança , Heparitina Sulfato , Humanos , Mucopolissacaridose III/diagnóstico , Mucopolissacaridose III/epidemiologia , Mucopolissacaridose III/genética
2.
Ann Hematol ; 100(4): 903-911, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33523291

RESUMO

Hyperbilirubinemia in patients with sickle cell anemia (SCA) as a result of enhanced erythrocyte destruction, lead to cholelithiasis development in a subset of patients. Evidence suggests that hyperbilirubinemia may be related to genetic variations, such as the UGT1A1 gene promoter polymorphism, which causes Gilbert syndrome (GS). Here, we aimed to determine the frequencies of UGT1A1 promoter alleles, alpha thalassemia, and ßS haplotypes and analyze their association with cholelithiasis and bilirubin levels. The UGT1A1 alleles, -3.7 kb alpha thalassemia deletion and ßS haplotypes were determined using DNA sequencing and PCR-based assays in 913 patients with SCA. The mean of total and unconjugated bilirubin and the frequency of cholelithiasis in GS patients were higher when compared to those without this condition, regardless of age (P < 0.05). Cumulative analysis demonstrated an early age-at-onset for cholelithiasis in GS genotypes (P < 0.05). Low fetal hemoglobin (HbF) levels and normal alpha thalassemia genotype were related to cholelithiasis development (P > 0.05). However, not cholelithiasis but total and unconjugated bilirubin levels were associated with ßS haplotype. These findings confirm in a large cohort that the UGT1A1 polymorphism influences cholelithiasis and hyperbilirubinemia in SCA. HbF and alpha thalassemia also appear as modulators for cholelithiasis risk.


Assuntos
Anemia Falciforme/sangue , Bilirrubina/sangue , Colelitíase/etiologia , Doença de Gilbert/sangue , Glucuronosiltransferase/fisiologia , Regiões Promotoras Genéticas/genética , Talassemia alfa/sangue , Adolescente , Adulto , Idoso , Alelos , Anemia Falciforme/complicações , Anemia Falciforme/enzimologia , Anemia Falciforme/genética , Criança , Pré-Escolar , Colelitíase/sangue , Colelitíase/genética , Feminino , Hemoglobina Fetal/análise , Genótipo , Doença de Gilbert/enzimologia , Doença de Gilbert/genética , Glucuronosiltransferase/genética , Haplótipos/genética , Hemólise , Humanos , Hiperbilirrubinemia/enzimologia , Hiperbilirrubinemia/etiologia , Hiperbilirrubinemia/genética , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Talassemia alfa/complicações , Talassemia alfa/enzimologia , Talassemia alfa/genética
3.
J Manipulative Physiol Ther ; 40(7): 501-510, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-29191286

RESUMO

OBJECTIVE: The purpose of this study was to measure the validity and reliability of flexicurve measurements of cervical curvature in the sagittal plane in adults. METHODS: One hundred thirteen adults were assessed in the seated position with flexicurve radiographs. Two groups were measured: (1) the validity group (n = 55), and (2) the reliability group (n = 58). Both groups were subdivided into 3 subgroups according to body mass index: underweight, normal weight, and overweight. Radiographs were simultaneously taken with flexicurve molded on the cervical spine. Pearson's correlation and the root mean square error were used for the concurrent validity. The reliability of the flexicurve was assessed by 3 raters using the intraclass correlation coefficient (ICC), the standard error of the measurement (SEM), and minimal detectable change (MDC). RESULTS: For the concurrent validity, a high correlation (r = 0.570, P < .001, root mean square error = 9.8°), and excellent results were obtained for intra-rater (ICC = 0.771, P < .001, SEM = 4.4°, MDC = 8.6°) and inter-rater (ICC = 0.775, P < .001, SEM = 4.3°, MDC = 8.5°) reliability. The subgroups had different results, whereas the underweight subgroup consistently had the best results. CONCLUSION: These findings suggest that the flexicurve can be a valid instrument for evaluating the curvature of the cervical spine in the sagittal plane in adults classified according to the body mass index as underweight and normal weight. Reliable measurements were provided for its use whether by the same or different raters. The flexicurve can be recommended for use both in clinical practice and in research settings as long as the suggested protocol is followed.


Assuntos
Vértebras Cervicais/diagnóstico por imagem , Lordose/diagnóstico por imagem , Lordose/fisiopatologia , Adolescente , Adulto , Índice de Massa Corporal , Peso Corporal , Vértebras Cervicais/fisiologia , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cervicalgia/fisiopatologia , Exame Físico/métodos , Postura , Estudos Prospectivos , Radiografia/métodos , Reprodutibilidade dos Testes , Curvaturas da Coluna Vertebral/diagnóstico por imagem , Curvaturas da Coluna Vertebral/fisiopatologia , Adulto Jovem
4.
Braz J Phys Ther ; 20(2): 142-7, 2016 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-26786078

RESUMO

INTRODUCTION: The early evaluation of the spine in children is desirable because it is at this stage of development that the greatest changes in the body structures occur. OBJECTIVE: To determine the test-retest, intra- and inter-rater reliability of the Flexicurve instrument for the evaluation of spinal curvatures in children. METHOD: Forty children ranging from 5 to 15 years of age were evaluated by two independent evaluators using the Flexicurve to model the spine. The agreement was evaluated using Intraclass Correlation Coefficients (ICC), Standard Error of the Measurement (SEM), and Minimal Detectable Change (MDC). RESULTS: In relation to thoracic kyphosis, the Flexicurve was shown to have excellent correlation in terms of test-retest reliability (ICC2,2=0.87) and moderate correlation in terms of intra-(ICC2,2=0.68) and inter-rater reliability (ICC2,2=0.72). In relation to lumbar lordosis, it was shown to have moderate correlation in terms of test-retest reliability (ICC2,2=0.66) and intra- (ICC2,2=0.50) and inter-rater reliability (ICC=0.56). CONCLUSION: This evaluation of the reliability of the Flexicurve allows its use in school screening. However, to monitor spinal curvatures in the sagittal plane in children, complementary clinical measures are necessary. Further studies are required to investigate the concurrent validity of the instrument in order to identify its diagnostic capacity.


Assuntos
Reprodutibilidade dos Testes , Curvaturas da Coluna Vertebral , Criança , Humanos , Variações Dependentes do Observador
5.
Braz J Phys Ther ; 18(6): 538-43, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25590446

RESUMO

BACKGROUND: The adapted arcometer has been validated for use in adults. However, its suitability for use in children can be questioned given the structural differences present in these populations. OBJECTIVE: To verify the concurrent validity, repeatability, and intra- and inter-reproducibility of the adapted arcometer for the measurement of the angles of thoracic kyphosis and lumbar lordosis in children. METHOD: Forty children were evaluated using both sagittal radiography of the spine and the adapted arcometer. The evaluations using the arcometer were carried out by two trained evaluators on two different days. In the statistical treatment, the intraclass correlation coefficient (ICC), Pearson's product moment correlation, Spearman's rho, the paired t test, and Wilcoxon's test were used (α=.05). RESULTS: A moderate and significant correlation was found between the x-ray and the adapted arcometer regarding thoracic kyphosis, but no correlation was found regarding lumbar lordosis. Repeatability and intra-evaluator reproducibility of the thoracic kyphosis and lumbar lordosis were confirmed, which was not the case of inter-evaluator reproducibility. CONCLUSION: The adapted arcometer can be used to accompany postural alterations in children made by the same evaluator, while its use for diagnostic purposes and continued evaluation by different evaluators cannot be recommended. Further studies with the aim of adapting this instrument for use in children are recommended.


Assuntos
Cifose/diagnóstico , Lordose/diagnóstico , Criança , Feminino , Humanos , Masculino , Variações Dependentes do Observador , Exame Físico/instrumentação , Reprodutibilidade dos Testes
6.
Braz. j. phys. ther. (Impr.) ; 20(2): 142-147, Mar.-Apr. 2016. tab
Artigo em Inglês | LILACS | ID: lil-783876

RESUMO

Introduction: The early evaluation of the spine in children is desirable because it is at this stage of development that the greatest changes in the body structures occur. Objective: To determine the test-retest, intra- and inter-rater reliability of the Flexicurve instrument for the evaluation of spinal curvatures in children. Method: Forty children ranging from 5 to 15 years of age were evaluated by two independent evaluators using the Flexicurve to model the spine. The agreement was evaluated using Intraclass Correlation Coefficients (ICC), Standard Error of the Measurement (SEM), and Minimal Detectable Change (MDC). Results: In relation to thoracic kyphosis, the Flexicurve was shown to have excellent correlation in terms of test-retest reliability (ICC2,2=0.87) and moderate correlation in terms of intra-(ICC2,2=0.68) and inter-rater reliability (ICC2,2=0.72). In relation to lumbar lordosis, it was shown to have moderate correlation in terms of test-retest reliability (ICC2,2=0.66) and intra- (ICC2,2=0.50) and inter-rater reliability (ICC=0.56). Conclusion: This evaluation of the reliability of the Flexicurve allows its use in school screening. However, to monitor spinal curvatures in the sagittal plane in children, complementary clinical measures are necessary. Further studies are required to investigate the concurrent validity of the instrument in order to identify its diagnostic capacity.


Assuntos
Humanos , Criança , Curvaturas da Coluna Vertebral , Reprodutibilidade dos Testes , Variações Dependentes do Observador
8.
Braz. j. phys. ther. (Impr.) ; 18(6): 538-543, 09/01/2015. tab, graf
Artigo em Inglês | LILACS | ID: lil-732351

RESUMO

BACKGROUND: The adapted arcometer has been validated for use in adults. However, its suitability for use in children can be questioned given the structural differences present in these populations. OBJECTIVE: To verify the concurrent validity, repeatability, and intra- and inter-reproducibility of the adapted arcometer for the measurement of the angles of thoracic kyphosis and lumbar lordosis in children. METHOD: Forty children were evaluated using both sagittal radiography of the spine and the adapted arcometer. The evaluations using the arcometer were carried out by two trained evaluators on two different days. In the statistical treatment, the intraclass correlation coefficient (ICC), Pearson's product moment correlation, Spearman's rho, the paired t test, and Wilcoxon's test were used (α=.05). RESULTS: A moderate and significant correlation was found between the x-ray and the adapted arcometer regarding thoracic kyphosis, but no correlation was found regarding lumbar lordosis. Repeatability and intra-evaluator reproducibility of the thoracic kyphosis and lumbar lordosis were confirmed, which was not the case of inter-evaluator reproducibility. CONCLUSION: The adapted arcometer can be used to accompany postural alterations in children made by the same evaluator, while its use for diagnostic purposes and continued evaluation by different evaluators cannot be recommended. Further studies with the aim of adapting this instrument for use in children are recommended. .


Assuntos
Proteínas de Bactérias/análise , Glicoproteínas de Membrana/análise , Glicoproteínas de Membrana/genética , Prodigiosina/biossíntese , Serratia marcescens/metabolismo , Centrifugação com Gradiente de Concentração , Eletroforese em Gel de Poliacrilamida , Peso Molecular , Glicoproteínas de Membrana/biossíntese , Solubilidade , Sarcosina/análogos & derivados , Serratia marcescens/análise
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA