Mutations in STK11 gene in Czech Peutz-Jeghers patients

<p>Abstract</p> <p>Background</p> <p>Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary disease characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis. The germline mutations in the serine/threonine kinase 11 (<it>STK11</it>) gene have been shown to be associated with the disease. Individuals with PJS are at increased risk for development of various neoplasms. The aim of the present study was to characterize the genotype and phenotype of Czech patients with PJS.</p> <p>Methods</p> <p>We examined genomic DNA of 8 individuals from five Czech families by sequencing analysis of <it>STK11 </it>gene, covering its promotor region, the entire coding region and the splice-site boundaries, and by multiplex ligation-dependent probe amplification (MLPA) assay designed for the identification of large exonic deletions or duplications of <it>STK11 </it>gene.</p> <p>Results</p> <p>We found pathogenic mutations in <it>STK11 </it>gene in two families fulfilling the diagnostic criteria of PJS and in one of three sporadic cases not complying with the criteria. The patient with the frameshift mutation in <it>STK11 </it>gene developed aggressive gastric cancer. No other studied proband has developed a carcinoma so far.</p> <p>Conclusion</p> <p>Our results showed that a germline mutation of <it>STK11 </it>gene can be found not only in probands fulfilling the PJS diagnostic criteria, but also in some sporadic cases not complying with the criteria. Moreover, we observed a new case of aggressive gastric cancer in a young patient with a frameshift mutation of <it>STK11 </it>gene.</p

Image perception and interpretation of abnormalities; can we believe our eyes? Can we do something about it?

The radiologist’s visual impression of images is transmitted, via non-visual means (the report), to the clinician. There are several complex steps from the perception of the images by the radiologist to the understanding of the impression by the clinician. With a process as complex as this, it is no wonder that errors in perception, cognition, interpretation, transmission and understanding are very common. This paper reviews the processes of perception and error generation and possible strategies for minimising them

Memory Effects in Subjective Quality Assessment of X-Ray Images

Experiments with human observers is considered as the most precise way for the assessment of image quality. Although widely used, such experiments have its pitfalls and hazards. In this work we investigate if the quality rating of previously viewed images influence the rating given to the current image, which we refer to as the rating memory effect. A subjective experiment with a group of observers rating x-ray images of different radiation dose was used for the basis of the analysis. The results indicate a memory effect, meaning that the rating of an image can be influenced by the ratings given in previously judged images

Colite ulcerativa inespecífica em crianças e adolescentes: análise de casuística Non-specific ulcerative colitis in children and adolescents: casuistic analysis

OBJETIVOS: descrever uma série de casos de colite ulcerativa inespecífica, com ênfase nas manifestações iniciais, propedêutica e intervalo entre os primeiros sintomas e o diagnóstico. MÉTODOS: análise retrospectiva de casos de colite ulcerativa inespecífica, cujos sintomas iniciaram antes de 20 anos de idade. Os pacientes foram selecionados nos Serviços de Gastroenterologia Pediátrica do Hospital das Clínicas da Universidade Federal de Minas Gerais e do Instituto Materno Infantil de Pernambuco. RESULTADOS: foram encontrados 29 pacientes com diagnóstico de colite ulcerativa inespecífica, sendo 15 (51,7%) pacientes do sexo masculino. A idade ao início dos sintomas variou entre 0,3 a 15,8 anos. Os sintomas mais freqüentes ao diagnóstico foram diarréia (89,7%) e dor abdominal (82,8%). A manifestação extra-intestinal mais comum foi artralgia/artrite (41,4%). A relação peso para a idade estava abaixo do percentil 3 em 13,8% dos pacientes. O intervalo de tempo entre o início dos sintomas e o diagnóstico variou entre 0,1 e 10,9 anos. CONCLUSÕES: o intervalo entre os sintomas iniciais e o diagnóstico ainda continua elevado na nossa Região devido ao somatório de vários fatores.<br>OBJECTIVES: to describe a series of non-specific ulcerative colitis with focus on the initial manifestation of the disease, propedeutics and interval between the first symptoms and diagnosis. METHODS: retrospective analysis of non-specific ulcerative colitis with symptoms appearing before 20 years old. Patients were selected in the Pediatrics Gastroenterology Services of the Hospital das Clínicas da Universidade Federal de Minas Gerais and of the Instituto Materno Infantil de Pernambuco. RESULTS: 29 patients with the diagnosis of non-specific ulcerative colitis were identified with fifteen patients (51.7%) of the male sex. The age of the beginning of the symptoms varied between 0.3 to 15.8. The most frequent symptoms of the diagnosis were diarrhea (89.7%) and abdominal pain (82.8%). The most common extra-intestinal manifestation was arthralgia/arthritis (41.4%) The weight for age ratio was below the 3 percentile in 13.8% of the patients. Time interval between symptoms appearance and diagnosis varied between 01 and 10.9 years old. CONCLUSIONS: time interval between initial symptoms and diagnosis remains high in our Region due to many different factors

Development and Validation of Queries Using Structured Query Language (SQL) to Determine the Utilization of Comparison Imaging in Radiology Reports Stored on PACS

The purpose of this research was to develop queries that quantify the utilization of comparison imaging in free-text radiology reports. The queries searched for common phrases that indicate whether comparison imaging was utilized, not available, or not mentioned. The queries were iteratively refined and tested on random samples of 100 reports with human review as a reference standard until the precision and recall of the queries did not improve significantly between iterations. Then, query accuracy was assessed on a new random sample of 200 reports. Overall accuracy of the queries was 95.6%. The queries were then applied to a database of 1.8 million reports. Comparisons were made to prior images in 38.69% of the reports (693,955/1,793,754), were unavailable in 18.79% (337,028/1,793,754), and were not mentioned in 42.52% (762,771/1,793,754). The results show that queries of text reports can achieve greater than 95% accuracy in determining the utilization of prior images