Delayed diagnosis of coeliac disease increases cancer risk

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Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report

<p>Abstract</p> <p>Background</p> <p>Cowden syndrome (CS) is a cancer predisposition syndrome associated with increased risk of breast, thyroid, and endometrial cancers, and is characterized by development of benign mucocutaneous lesions.</p> <p>Case presentation</p> <p>Here we report on a 58-year-old woman with multiple primary malignancies and subtle mucocutaneous lesions such as small polyps and wart-like papulas. Over a period of 23 years, she developed various malignant neoplasms including thyroid, ovarian, stomach, and colon carcinomas, and a benign meningioma. Direct sequencing analysis of the <it>PTEN </it>gene revealed a novel germline mutation (c.438delT, p.Leu146X).</p> <p>Conclusion</p> <p>This case demonstrates that Cowden syndrome is a multi-system disease that can result in the development of multiple malignant and benign tumors.</p

The impact of cognitive deficit on self-reported car crashes in ultra-octogenarian population: data of an Italian population-based study.

OBJECTIVE: To examine the usefulness of specific neurocognitive tests for predicting the crash involvement in ultra-octogenarian population. METHODS: A total of 800 subjects (mean age 82.4 + 3.1 years) underwent a battery of neuropsychological tests. Global intellectual functioning was assessed using the Mini Mental State Examination, mental flexibility and information processing speed were assessed using the Trail Making Test parts A and B (TMT-A and TMT-B), long-term memory was evaluated with the short story, and visuo-spatial skills were tested with Clock Drawing Test. One year after this evaluation, 343 (43%) participants have been interviewed by a telephone call to know if they were currently driving and if they had a car crash during this period. RESULTS: Two hundred ninety-seven subjects had their driving license renewed and completed the follow-up 1 year after. Data shows that less than 11% of this group had a car crash during the first year of observation (Crash Involved). Older subjects involved in a car crash showed significant worse performances on TMT-B (TMT-B pathological Crash Involved vs. Noncrash Involved 47% vs. 27%; p = 0.02) and on short story (short story pathological Crash Involved vs. Noncrash Involved 19% vs. 5%; p = 0.02). CONCLUSIONS: Trail Making test B and short story have been demonstrated to provide a predictive value of driving performance of older people. Therefore, we suggest that a simple and standardized battery of neuropsychological tests, lasting about 30 min and administered by an experienced staff, is a good diagnostic instrument for risk prevention of driving activity of older drivers

Training with a computer-based simulator achieves basic manual skills required for upper endoscopy: a randomized controlled trial

BACKGROUND: Changes in medical practice have constrained the time available for education and the availability of patients for training. Computer-based simulators have been devised that can be used to achieve manual skills without patient contact. This study prospectively compared, in a clinical setting, the efficacy of a computer-based simulator for training in upper endoscopy. METHODS: Twenty-two fellows with no experience in endoscopy were randomly assigned to two groups: one group underwent 10 hours of preclinical training with a computer-based simulator, and the other did not. Each trainee performed upper endoscopy in 19 or 20 patients. Performance parameters evaluated included the following: esophageal intubation, procedure duration and completeness, and request for assistance. The performance of the trainees also was evaluated by the endoscopy instructor. RESULTS: A total of 420 upper endoscopies were performed; the computer pretrained group performed 212 and the non-pretrained group, 208. The pretrained group performed more complete procedures (87.8% vs. 70.0%; p < 0.0001), required less assistance (41.3% vs. 97.9%; p < 0.0001), and the instructor assessed performance as "positive" more often for this group (86.8% vs. 56.7%; p < 0.0001). The length of procedures was comparable for the two groups. CONCLUSIONS: The computer-based simulator is effective in providing novice trainees with the skills needed for identification of anatomical landmarks and basic endoscopic maneuvers, and in reducing the need for assistance by instructors