15 resultados para Metacarpophalangeal pattern profile

em Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho"


Relevância:

100.00% 100.00%

Publicador:

Resumo:

Marfan syndrome (MFS) is an autosomal dominant trait due to mutations in the fibrillin gene (FBN1). The MFS expressivity is variable, and its diagnosis relies completely on clinical criteria. Atypical cases and Marfan- like (marfanoid) clinical presentations are commonly found. The metacarpophalangeal pattern profile (MCPP), a radiological method in which the 19 tubular hand bones are assessed, has been used in the diagnosis of various syndromes. To investigate whether the MCPP was adequate to discriminate between MFS and Marfan-like subjects, we studied 38 patients who were referred to our service because they had an MFS diagnosis, diagnostic hypothesis, or differential diagnosis or had arachnodactyly with dolichostenomelia. Two groups were formed: 1) MFS: 21 patients with a mean age of 18.3 (10.8 S.D.) years and 2) Marfan-like syndromes: 16 patients who did not meet the current criteria, with a mean age of 14.6 (4.6 S.D.) years. The MCPP was performed in each case following the classical technique, and a characteristic mean profile was obtained for group I (MFS), with Z scores ranging from 0.69 to 2.73 (1.80 ± 0.50; mean ± S.D.). In group I, three cases had no correlation with the typical MFS pattern. In group II, three cases had an MFS pattern. The correlation with the mean MCPP of MFS permitted the differential diagnosis of MFS and marfanoid syndromes with 86% sensitivity, 81% specificity, and 86% positive and 81% negative predictive values. The results suggest that MCPP can be used effectively as an auxiliary tool in the nosology of these conditions and, because there is no change in MCPP with age, can be helpful in early diagnosis.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Hypermethylation in the promoter region has been associated with a loss of gene function that may give a selective advantage to neoplastic cells. In this study, the methylation pattern of genes CDKN2A (alias p14, p14(ARF), p16, p16(INK4a)), DAPK1, CDH1, and ADAM23 was analyzed in 43 samples of head and neck tumors using methylation-specific polymerase chain reaction. In the oropharynx, there was a statistically significant association between hypermethylation of the DAPK1 gene and the occurrence of lymph node metastases, and in the larynx there was statistically significant evidence of an association between hypermethylation of the ADAM23 gene and advanced stages of the tumors. Thus, a correlation was observed between hypermethylation of the promoter region of genes DAPK1 and ADAM23 and the progression of head and neck cancer. (c) 2007 Elsevier B.V. All rights reserved.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Studies of the hemoglobin pattern in Brazilian reptiles are important for determining ecological and phylogenetic relationships, but they are scarce. Peripheral blood samples were obtained from 7 males and 18 females of Rhinoclemmys punctularia. The hematological profile was based on the total hemoglobin and hematocrit values. The hemoglobin profile was obtained using electrophoretic procedures at different pH, isoelectric focusing, globin chain electrophoresis, and HPLC. The hematocrit (31 ± 2%) and total hemoglobin (7.5 ± 0.2 g/dL) values did not indicate gender variations. Alkaline pH electrophoresis of the total blood samples treated with 1% saponin demonstrated the presence of four well-defined hemoglobin fractions, one major component (fraction I), showing cathodic migration and three others faster than fraction I with anodic migration. When the samples were precipitated with chloroform, only two hemoglobin fractions were observed, similar to fractions I and III from the first procedure. Isoelectric focusing and HPLC showed the same pattern. With acid and neutral pH electrophoresis, two fractions with anodic migration were observed. The globin chain identification at alkaline pH showed two fractions, but four fractions were observed at acidic pH, suggesting that different polypeptide chains are involved in the hemoglobin molecule. The chromatographic separation of the total blood sample demonstrated that the major fraction comprised 81.9% and the minor 18.1%. The results obtained demonstrated a similarity between these hemoglobin components and those of some Chelidae reported in the literature for both land and aquatic animals, reflecting the adaptation to environmental conditions. ©FUNPEC-RP.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Complete blood counts and hemoglobin isoform data were gathered from 36 specimens of the turtle species Phrynops geoffroanus from the northwestern region of São Paulo State, Brazil. They were collected in an urban area. The hemoglobin profiles were obtained after red blood cell lysis and by electrophoretic migration in alkaline pH, acid pH, and neutral pH buffer. The hemoglobin components were confirmed using high-performance liquid chromatography (HPLC). Erythrogram analysis included hematocrit, total hemoglobin concentration, total red blood cell count, and red blood cell indices. The leukogram included a total white blood cell count and a calculation of the percent values of neutrophils, lymphocytes, monocytes, basophils, eosinophils, heterophils, and azurophils. HPLC analysis revealed three hemoglobin components; the first with a concentration of 5.5%, the second was a major component with an average concentration of 67.1%, and the third with a concentration of 28.5%. The hematological profile obtained for these specimens allowed us to establish a pattern for P. geoffroanus in São Paulo State Northwestern region. The average hematocrit values were 22.5% for females and 24.0% for males. For total hemoglobin, we found average values of 6.66 g/dL in females and 7.22 g/dL in males. The number of white blood cells was 2725 x 103/μL for females and 2775 x 103/μL for males. There was a predominance of heterophils, eosinophils, and monocytes in both sexes. No significant differences were found between males and females for hematological profile. The hematological results were compared to literature data for other Chelonia. They were similar to what is known for fresh water turtles. © FUNPEC-RP.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

The main purpose of this work is to report the presence of spurious discontinuities in the pattern of diurnal variation of sea level pressure of the three reanalysis datasets from: the National Centers for Environmental Prediction (NCEP) and National Center for Atmospheric Science (R1), the NCEP and Department of Energy (R2), and the European Centre for Medium Range Weather Forecasting (ERA-40). Such discontinuities can be connected to the major changes in the global observing system that have occurred throughout reanalyses years. In the R1, the richest period in discontinuities is 1956-1958, coinciding with the start of modern radiosonde observation network. Rapid increase in the density of surface-based observations from 1967 also had an important impact on both R1 and ERA-40, with larger impact on R1. The reanalyses show discontinuities in the 1970s related to the assimilation of radiances measured by the Vertical Temperature Profile Radiometer and TIROS-N Operational Vertical Sounders onboard satellites. In the ERA-40, which additionally assimilated Special Sensor Microwave/Imager data, there are discontinuities in 1987-1989. The R1 also presents further discontinuities, in 1988-1993 likely connected to replacement/introduction of NOAA-series satellites with different biases, and to the volcanic eruption of Mount Pinatubo in June 1991, which is known to have severely affected measurements of infrared radiances for several years. The discontinuities in 1996-1998 might be partially connected to change in the type of radiosonde, from VIZ-B to VIZ-B2. The R2, which covers only satellite era (1979-on), shows discontinuities mainly in 1992, 1996-1997, and 2001. The discontinuities in 1992 and 2001 might have been caused by change in the satellite measurements and those in 1996-1997 by some changes in land-based observations network. © 2012 Springer-Verlag.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

In the presence of developmental dyslexia, there is high probability of motor difficulties being present as well purposes: The purposes of this study were to characterize and compare the motor performance of students with dyslexia with students with good academic performance and to identify the presence of the DCD (developmental coordination disorder) co-occurring with developmental dyslexia. A total of 79 students participated in the research, both genders, from 8 to 11 years old, from 3rd to 5th grades, and were divided into Group I: 19 students with developmental dyslexia and Group II: 60 students with good academic performance. All the students were assessed using “The Bruininks-Oseretsky Test of Motor Proficiency” (second edition), to measure the motor skills and the pattern and differences between groups. The results of this study showed that the motor performance of Group II students was superior to the performance of students of Group I in almost all motor areas assessed but both groups performed less well than they should have for their chronological age. The results of this study indicate that occupational therapists, speech therapists and educators need to be aware of the presence of motor impairments and the need for early intervention in both the academic and clinical environments, in order to ensure that early identification and diagnosis of possible co-occurrences, such as DCD, and the impact on learning to guarantee more appropriate clinical and educational assistance for this population. This may also indicate that increased exposure to movement may be important to limit some of the secondary health consequences in children in Brazil.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)