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1.
Clin Radiol ; 69(4): 363-71, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24424326

RESUMO

AIM: To validate a newly developed software prototype that automatically analyses small bowel motility by comparing it directly with manual measurement. MATERIAL AND METHODS: Forty-five patients with clinical indication for small bowel magnetic resonance imaging (MRI) were retrospectively included in this institutional review board-approved study. MRI was performed using a 1.5 T system following a standard MR-enterography protocol. Small bowel motility parameters (contractions-per-minute, luminal diameter, amplitude) were measured three times each in identical segments using the manual and the semiautomatic software-assisted method. The methods were compared for agreement, repeatability, and time needed for each measurement. All parameters were compared between the methods. RESULTS: A total of 91 small-bowel segments were analysed. No significant intra-individual difference (p > 0.05) was found for peristaltic frequencies between the methods (mean: 4.14/min manual; 4.22/min software-assisted). Amplitudes (5.14 mm; 5.57 mm) and mean lumen diameters (17.39 mm; 14.68) differed due to systematic differences in the definition of the bowel wall. Mean duration of single measurement was significantly (p < 0.01) shorter with the software (6.25 min; 1.30 min). The scattering of repeated measurements was significantly (p < 0.05) lower using the software. CONCLUSION: The software-assisted method accomplished highly reliable, fast and accurate measurement of small bowel motility. Measurement precision and duration differed significantly between the two methods in favour of the software-assisted technique.


Assuntos
Motilidade Gastrointestinal , Interpretação de Imagem Assistida por Computador , Intestino Delgado/fisiopatologia , Imageamento por Ressonância Magnética , Software , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Suíça/epidemiologia
2.
Clin Radiol ; 68(12): 1247-53, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23973163

RESUMO

AIM: To evaluate the influence of locally active Crohn's disease on systemic small-bowel motility in patients with chronic Crohn's disease compared to healthy individuals. MATERIAL AND METHODS: Fifteen healthy individuals (11 men, four women; mean age 37 years) and 20 patients with histopathologically proven active (n = 15; 10 women, 5 men; mean age 45 years) or chronic (n = 5; four women, one man; mean age 48 years) Crohn's disease were included in this institutional review board-approved, retrospective study. Magnetic resonance imaging (MRI; 1.5 T) was performed after standardized preparation. Two-dimensional (2D) cine sequences for motility acquisition were performed in apnoea (27 s). Motility assessment was performed using dedicated software in three randomly chosen areas of the small-bowel outside known Crohn's disease-affected hotspots. The main quantitative characteristics (frequency, amplitude, occlusion rate) were compared using Student's t-test and one-way analysis of variance (ANOVA). RESULTS: Three randomly chosen segments were analysed in each participant. Patients with active Crohn's disease had significantly (p < 0.05) reduced contraction frequencies (active Crohn's disease: 2.86/min; chronic: 4.14/min; healthy: 4.53/min) and luminal occlusion rates (active: 0.43; chronic: 0.70; healthy: 0.73) compared to healthy individuals and patients with chronic Crohn's disease. Contraction amplitudes were significantly reduced during active Crohn's disease (6.71 mm) compared to healthy participants (10.14 mm), but this only reached borderline significance in comparison to chronic Crohn's disease (8.87 mm). Mean bowel lumen diameter was significantly (p = 0.04) higher in patients with active Crohn's disease (16.91 mm) compared to healthy participants (14.79 mm) but not in comparison to patients with chronic Crohn's disease (13.68). CONCLUSION: The findings of the present study suggest that local inflammatory activity of small-bowel segments in patients with active Crohn's disease alters small-bowel motility in distant, non-affected segments. The motility patterns revealed reduced contraction-wave frequencies, amplitudes, and decreased luminal occlusion rates. Thus evaluation of these characteristics potentially helps to differentiate between chronic and active Crohn's disease.


Assuntos
Doença de Crohn/patologia , Motilidade Gastrointestinal , Imagem Cinética por Ressonância Magnética , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Doença de Crohn/diagnóstico , Doença de Crohn/fisiopatologia , Feminino , Humanos , Íleo/patologia , Íleo/fisiopatologia , Intestino Delgado/patologia , Intestino Delgado/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
3.
N Z Vet J ; 64(3): 154-7, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26539731

RESUMO

AIMS: To determine the distribution of feline blood types in a sample of non-pedigree, domestic cats in New Zealand, whether a difference exists in this distribution between domestic short haired and domestic long haired cats, and between the North and South Islands of New Zealand; and to calculate the risk of a random blood transfusion causing a severe transfusion reaction, and the risk of a random mating producing kittens susceptible to neonatal isoerythrolysis. METHODS: The results of 245 blood typing tests in non-pedigree cats performed at the New Zealand Veterinary Pathology (NZVP) and Gribbles Veterinary Pathology laboratories between the beginning of 2009 and the end of 2014 were retrospectively collated and analysed. Cats that were identified as domestic short or long haired were included. For the cats tested at Gribbles Veterinary Pathology 62 were from the North Island, and 27 from the South Island. RESULTS: The blood type distribution differed between samples from the two laboratories (p=0.029), but not between domestic short and long haired cats (p=0.50), or between the North and South Islands (p=0.76). Of the 89 cats tested at Gribbles Veterinary Pathology, 70 (79%) were type A, 18 (20%) type B, and 1 (1%) type AB; for NZVP 139/156 (89.1%) cats were type A, 16 (10.3%) type B, and 1 (0.6%) type AB. It was estimated that 18.3-31.9% of random blood transfusions would be at risk of a transfusion reaction, and neonatal isoerythrolysis would be a risk in 9.2-16.1% of random matings between non-pedigree cats. CONCLUSIONS: The results from this study suggest that there is a high risk of complications for a random blood transfusion between non-purebred cats in New Zealand. Neonatal isoerythrolysis should be considered an important differential diagnosis in illness or mortality in kittens during the first days of life.


Assuntos
Sistema ABO de Grupos Sanguíneos , Tipagem e Reações Cruzadas Sanguíneas/veterinária , Gatos/sangue , Animais , Gatos/genética , Nova Zelândia
4.
Hum Mutat ; 18(2): 132-40, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11462237

RESUMO

Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which almost exclusively affects girls, with an estimated prevalence of one in 10,000-15,000 female births. Mutations in the methyl CpG binding protein 2 gene (MECP2) have been identified in roughly 75% of classical Rett girls. The vast majority of Rett cases (99%) are sporadic in origin, and are due to de novo mutations. We collected DNA samples from 50 Italian classical Rett girls, and screened the MECP2 coding region for mutations by denaturing high-performance liquid chromatography (DHPLC) and subsequent direct sequencing. DHPLC is a recently developed method for mutation screening which identifies heteroduplexes formed in DNA samples containing mismatches between wild type and mutant DNA strands, combining high sensitivity, reduced cost per run, and high throughput. In our series, 19 different de novo MECP2 mutations, eight of which were previously unreported, were found in 35 out of 50 Rett girls (70%). Seven recurrent mutations were characterized in a total of 22 unrelated cases. Initial DHPLC screening allowed the identification of 17 out of 19 different mutations (90%); after optimal conditions were established, this figure increased to 100%, with all recurrent MECP2 mutations generating a characteristic chromatographic profile. Detailed clinical data were available for 27 out of 35 mutation carrying Rett girls. Milder disease was detectable in patients carrying nonsense mutation as compared to patients carrying missense mutations, although this difference was not statistically significant (P = 0.077).


Assuntos
Proteínas Cromossômicas não Histona , Análise Mutacional de DNA/métodos , Proteínas de Ligação a DNA/genética , Mutação/genética , Proteínas Repressoras , Síndrome de Rett/genética , Cromatografia Líquida de Alta Pressão , Códon sem Sentido/genética , Éxons/genética , Feminino , Genes Dominantes/genética , Testes Genéticos , Genótipo , Humanos , Itália , Proteína 2 de Ligação a Metil-CpG , Dados de Sequência Molecular , Mutação de Sentido Incorreto/genética , Desnaturação de Ácido Nucleico , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Síndrome de Rett/fisiopatologia , Razão de Masculinidade
5.
Neurogastroenterol Motil ; 25(6): 467-73, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23495824

RESUMO

BACKGROUND: To evaluate the correlation between the levels of C-reactive protein (CRP), calprotectin, and small bowel motility in patients with Crohn's disease assessed with MRI. METHODS: This prospective institutional review board approved study included magnetic resonance imaging enterography (MRE) and analyses of inflammatory markers in blood (C-reactive protein) and feces (calprotectin). For cine MRE, a coronal 2D-T2w sequence was used on a 1.5 T MRI system. Small bowel motility was analyzed in 13 patients using dedicated magnetic resonance MR-motility assessment software (Motasso). Contraction frequency, amplitude, amplitude diameter ratio, and luminal diameter were determined as well as the blood levels of CRP (mg L(-1) ) and fecal levels of calprotectin (ug g(-1) ). Statistics were calculated using Pearson's correlation coefficient. KEY RESULTS: A significant inverse linear correlation was found between the contraction frequency and both the level of CRP (r = -0.701, P = 0.008) and calprotectin (r = -0.805, P = 0.001). Dilatation of small bowel diameter significantly correlated with calprotectin levels (r = 0.857, P =< 0.001) but not with CRP (r = 0.447, P = 0.126). The absolute amplitude of the contractions did not correlate neither with the level of CRP (r = -0.527, P = 0.064) nor with calprotectin (r = -0.612, P = 0.026). The ratio describing the contraction amplitude relatively to the individual luminal diameter significantly correlated with calprotectin (r = 0.736, P = 0.004) and with CRP (r = 0.577, P = 0.039). CONCLUSIONS & INFERENCES: Alterations of small bowel motility during CD flares significantly correlate with the level of calprotectin and CRP indicating that they represent inflammatory activity.


Assuntos
Proteína C-Reativa/análise , Doença de Crohn/fisiopatologia , Motilidade Gastrointestinal/fisiologia , Intestino Delgado/fisiopatologia , Complexo Antígeno L1 Leucocitário/análise , Adulto , Idoso , Proteína C-Reativa/metabolismo , Doença de Crohn/metabolismo , Doença de Crohn/patologia , Fezes/química , Feminino , Humanos , Inflamação/metabolismo , Inflamação/patologia , Inflamação/fisiopatologia , Intestino Delgado/patologia , Complexo Antígeno L1 Leucocitário/metabolismo , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Índice de Gravidade de Doença
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