Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects

BACKGROUND: Germline mutations in the adenomatous polyposis gene (APC) result in familial adenomatous polyposis (FAP). FAP is an autosomal dominantly inherited disorder predisposing to colorectal cancer. Typical FAP is characterized by hundreds to thousands of colorectal adenomatous polyps and by several extracolonic manifestations. An attenuated form of polyposis (AFAP) is characterized by less than 100 adenomas and later onset of the disease. METHODS: Here, we analyzed the APC gene for germline mutations in 59 Czech and 15 Slovak FAP patients. In addition, 50 apparently APC mutation negative Czech probands and 3 probands of Slovak origin were screened for large deletions encompassing the APC gene. Mutation screening was performed using denaturing gradient gel electrophoresis and/or protein truncation test. DNA fragments showing an aberrant electrophoretic banding pattern were sequenced. Screening for large deletions was performed by multiplex ligation dependent probe amplification. The extent of deletions was analyzed using following microsatellite markers: D5S299, D5S82, D5S134 and D5S346. RESULTS: In the set of Czech and Slovak patients, we identified 46 germline mutations among 74 unrelated probands. Total mutation capture is 62,2% including large deletions. Thirty seven mutations were detected in 49 patients presenting a classical FAP phenotype (75,5%) and 9 mutations in 25 patients with attenuated FAP (36%). We report 20 novel germline APC mutations and 3 large deletions (6%) encompassing the whole-gene deletions and/or exon 14 deletion. In the patients with novel mutations, correlations of the mutation localization are discussed in context of the classical and/or attenuated phenotype of the disease. CONCLUSION: The results of the molecular genetic testing are used both in the establishment of the predictive diagnosis and in the clinical management of patients. In some cases this study has also shown the difficulty to classify clinically between the classical and the attenuated form of FAP according to the established criteria. Interfamilial and/or intrafamilial phenotype variability was also confirmed in some cases which did not fit well with predicted genotype-phenotype correlation. All these findings have to be taken into consideration both in the genetic counselling and in the patient care

Has Behavioral Science Tumbled Through the Biological Looking Glass? Will Brief, Evidence-Based Training Return It From the Rabbit Hole?

Time constraints and professional demands leave practicing professionals unlikely to enroll in extended training such as a semester-long graduate course. Thus, the three-hour continuing education format has become a standard for those in practice. One may ask what sorts of training strategies optimize that format. To explore that, a three hour training program for seventy-six practicing mental health professionals, most of whom self-identified as psychologists, was devised. It made use of primarily antecedent techniques that have been shown to bring about changed perceptions on a number of topics. Content focused on two areas of importance to behavior analysts, the culture’s increasing acceptance of the biological causation model of disorders such as attentiondeficit hyperactivity disorder (ADHD), unipolar depression, anxiety disorders, and schizophrenia, and the field’s increasing reliance on medications, often to the exclusion of behavioral methods. Pre-post assessment showed that participants had changed their thinking regarding the two content areas. The authors caution that participants’ changed opinions may serve as setting events to changes in practice, but those changes are verbal. One must not assume changes in practice techniques will automatically occur

Effect of Post-Veraison Irrigation Level on Sauvignon blanc Yield, Juice Quality and Water Relations

Low (L), medium (M) and high (H) post-veraison daily irrigation levels (1 mm, 2 mm and 3,5 mm, respectively) were applied in a Sauvignon blanc vineyard in the Golan Heights of Israel. Juice Brix levels were higher in the H treatment than in the L treatment. Yields were higher in H treatment than in L treatment in years with high crop level. Shoot elongation ceased at veraison in all three treatments. Average midday leaf water potential (LWP) was -1,4 MPa and -1,9 MPa in the Hand L treatments, respectively. Lower stomata! resistance (R,J was found in the H treatment compared to those in the L and M treatments. A negative correlation between Rs and LWP was observed. Leaf temperatures were higher in the L treatment than in the H treatment. This was mainly attributed to the difference in Rs between treatments. The apparent relationship between R8 and LWP suggests the use of canopy heat balance for irrigation management in warm regions, provided that satisfactory methodologies for boundary-layer resistance and the evaluation of net radiation in vineyards are developed