Assuntos
Malária , Humanos , Malária/epidemiologia , Malária/prevenção & controle , Martinica , Índias OcidentaisRESUMO
The objective of this study was to perform genetic analysis in three brothers of Turkish origin born from consanguineus parents and affected by congenital hypothyroidism, goiter and low levels of serum TG. The combination of sequencing of DNA, PCR mapping, quantitative real-time PCR, inverse-PCR (I-PCR), multiplex PCR and bioinformatics analysis were used in order to detect TG mutations. We demonstrated that the three affected siblings are homozygous for a DNA inversion of 16,962bp in the TG gene associated with two deleted regions at both sides of the inversion limits. The inversion region includes the first 9bp of exon 48, 1015bp of intron 47, 191bp of exon 47, 1523bp of intron 46, 135bp of exon 46 and the last 14,089bp of intron 45. The proximal deletion corresponds to 27bp of TG intron 45, while the distal deletion spans the last 230bp of TG exon 48 and the first 588bp of intergenic region downstream TG end. The parents were heterozygous carriers of the complex rearrangement. In conclusion, a novel large imperfect DNA inversion within the TG gene was identified by the strategy of I-PCR. This aberration was not detectable by normal sequencing of the exons and exon/intron boundaries. Remarkably, the finding represents the first description of a TG deficiency disease caused by a DNA inversion.
Assuntos
Hipotireoidismo Congênito/genética , Tireoglobulina/genética , Sequência de Bases , Consanguinidade , Análise Mutacional de DNA , Estudos de Associação Genética , Humanos , Íntrons , Masculino , Dados de Sequência Molecular , Linhagem , Polimorfismo de Nucleotídeo Único , Deleção de Sequência , Inversão de Sequência , Tireoglobulina/deficiênciaRESUMO
PURPOSE: To evaluate the learning effect of frequency doubling technology (FDT) perimetry using the Humphrey Matrix perimeter in healthy subjects with no perimetric experience. METHODS: One eye of 28 healthy adults who had no history of visual field testing underwent three Matrix tests using 24-2 programme with full-threshold strategy. The results of the first session were compared with those of the second, and the third sessions. Learning effect was defined as an improvement at results for duration, perimetric indices, and the number of points with a P<5 and <1% in the total and pattern deviation maps. Anderson's criteria were applied to define abnormal examinations. RESULTS: The mean in the mean deviation global index was -7.40+/-1.49 dB in the first session, -4.64+/-0.97 dB in the second session, and -3.29+/-0.93 dB in the third session. Pattern standard deviations were decreased as the tests were repeated (P<0.01). Test duration, fixation losses, false negative, and the number of points with a P<5 and <1% in the total and pattern deviation maps rate were also changed significantly (P<0.05). Among the criteria suggested by Anderson, the Glaucoma Hemifield Test performed better in all session tests. The false-positive rates ranged from 50% (95% confidence intervals [CI] 30.6-69.4%) to 64% (95% CI 44.1-81.4%) for the first session, 29% (95% CI 13.2-48.7%) to 54% (95% CI 33.9-72.5%) for the second session, and from 18% (95% CI 6.1-36.9%) to 32% (95% CI 15.9-52.4%) for the third session. CONCLUSIONS: The results of this study show that the learning effect for Humphrey Matrix FDT perimetry must be considered in normal individuals with no perimetric experience.
Assuntos
Aprendizagem , Testes de Campo Visual/métodos , Campos Visuais/fisiologia , Adulto , Reações Falso-Positivas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Limiar SensorialRESUMO
This cross-sectional study documents the demographic features of asthmatics seeking acute asthma care at four institutions on the island of Trinidad from January 1 to December 31, 1997. More than 15,000 (15,035) different patients made 27,353 visits during the study period. Pediatric and adolescent male patients outnumbered females, but this was reversed in patients aged 20-69 years. Frequency of visits per patient ranged from 1 to 242. Significant variation in monthly admissions was observed; admission rates were highest in the last quarter of the year but were lowest in July and August. The overall crude prevalence rate was estimated at 1.71 per 100 (range 1.16-2.34).
Assuntos
Asma/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Asma/terapia , Criança , Pré-Escolar , Estudos Transversais , Demografia , Serviços Médicos de Emergência , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Prevalência , Distribuição por Sexo , Índias OcidentaisAssuntos
Síndrome da Imunodeficiência Adquirida/prevenção & controle , Doadores de Sangue , Política de Saúde , Preconceito , Síndrome da Imunodeficiência Adquirida/transmissão , Negro ou Afro-Americano , Haiti/etnologia , Humanos , Vigilância da População , Estados Unidos , United States Food and Drug AdministrationRESUMO
Se presenta una serie compuesta por 10 perros, a quienes de 20 minutos de provocarles una pancreatitis aguda grave mediante la inyección intracanalicular de 2 a 4 cm3 de cloruro de calcio, se procedió a ligar el conducto pancreático principal. Se quiso comenzar a investigar el nivel del árbol canalicular en donde el bloqueo desempeña su acción. Al morir los 10 animales se demostró que la simple obturación del conducto por la ligadura no reemplaza la acción obtenida prolamina o Tissucol (AU)
Assuntos
Cães , Animais , Pancreatite/cirurgia , Ductos Pancreáticos/cirurgia , Ligadura , Doença Aguda , Cloreto de Cálcio/efeitos adversosRESUMO
Se presenta una serie compuesta por 10 perros, a quienes de 20 minutos de provocarles una pancreatitis aguda grave mediante la inyección intracanalicular de 2 a 4 cm3 de cloruro de calcio, se procedió a ligar el conducto pancreático principal. Se quiso comenzar a investigar el nivel del árbol canalicular en donde el bloqueo desempeña su acción. Al morir los 10 animales se demostró que la simple obturación del conducto por la ligadura no reemplaza la acción obtenida prolamina o Tissucol