Citations

Abstract Recent publications have reported that common variants on 8q24 are associated with both prostate and colorectal cancers (CRC). In addition, one of these studies (the ARCTIC study) initially observed an association with a single nucleotide polymorphism (SNP) on 9p24 that was not confirmed in some of their validation data sets. In the research described here, we conducted a case-unaffected sibling analysis using population- and clinic-based discordant sibships (N = 1,567 sibships) from the Colon Cancer Family Registry (Colon CFR) to investigate the associations between common variants at 9p24 and 8q24 and risk of CRC. We also evaluated whether these associations differed by age, family history, and tumor characteristics, including microsatellite instability and tumor site. Associations were estimated using conditional logistic regression, treating sibship as the matching factor. Analyses were adjusted for age and sex, and stratified by ascertainment source (population versus clinic). We observed an association between a SNP on 9p24 (rs719725) and risk of CRC in the population-based series (AA versus CC: odds ratios, 1.46; 95% confidence interval, 1.06–2.02; AC versus CC: odds ratios, 1.50; 95% confidence interval, 1.14–1.98; P = 0.011 on 2 df). In the population-based series, we also detected statistically significant associations between two SNPs on 8q24, rs10505477 and rs6983267, and risk of CRC (P = 0.005 and P = 0.002, respectively). There was no evidence of statistically significant heterogeneity by age at diagnosis, family history of CRC, microsatellite instability, or tumor site at either locus and no evidence of interaction between SNPs on 8q24 and 9p24. These data suggest that common variants may play important roles in the risk of CRC. [Cancer Res 2007;67(23):11128–32]

Purpose Darley, Aronson, and Brown (1969a, 1969b) detailed methods and results of auditory-perceptual assessment for speakers with dysarthrias of varying etiology. They reported adequate listener reliability for use of the rating system as a tool for differential diagnosis, but several more recent studies have raised concerns about listener reliability using this approach. Method In the present study, the authors examined intrarater and interrater agreement for perceptual ratings of 47 speakers with various dysarthria types by 2 listener groups (inexperienced and experienced). The entire set of perceptual features proposed by Darley et al. was rated based on a 40-s conversational speech sample. Results No differences in levels of agreement were found between the listener groups. Agreement was within 1 scale value or better for 67% of the pairwise comparisons. Levels of agreement were lower when the average rating fell in the mid-range of the scale compared with samples that had an average rating near either of the scale endpoints; agreement was above chance level. No significant differences in agreement were found between the perceptual features. Discussion The levels of listener agreement that were found indicate that auditory-perceptual ratings show promise during clinical assessment for identifying salient features of dysarthria for speakers with various etiologies.

What disease states are occasionally associ ated with hypogarathyraidisna? Is there any explanation for the association of moniliasis or steatorrhea in the syndrome re ported ? Is there a familial incidence of the syndrome of hypoparathyroidism, Addison's disease and moniliasis?

Medical and surgical emergencies occasionally present as ruptured abdominal aortic aneurysms (RAAA). To assess benefits of laparotomies and adverse effects of unnecessary operations, the authors reviewed their experience. Thirteen patients, 9 women, 4 men (mean age: 72 years, range: 41-85) underwent emergency laparotomy between 1988 and 1996 for presumed RAAA and were found to have other surgical or medical emergencies. All the patients presented with hypotension, 12 had abdominal or back pain, four had pulsatile abdominal mass. Rupture was not excluded by computed tomography scan in three or by ultrasonography in two patients. Laparotomy disclosed intact abdominal aorta in all, but seven patients had abdominal aortic aneurysm. Of five surgical emergencies, laparotomy was indicated in four: three for ruptured visceral artery aneurysms, one for perforated duodenal ulcer. The fifth patient required thoracotomy for ruptured thoracic aneurysm. Four of eight medical emergencies were myocardial infarctions. One iatro genic complication required reoperation for bleeding. Mean hospital stay was 18 days; mean hospital charges were $40,771. Seven (54%) early deaths occurred; none were caused directly by the operation. Laparotomy was indicated in one third of deceptive emergencies that present as RAAA. Although mortality, morbidity, and costs were high, iatrogenic surgical complica tions were rare and deaths were not caused by unnecessary operations.

To test the hypothesis that the frequency of biotinidase deficiency is greater in children with unexplained developmental delay or neurologic abnormalities than in the general population, we studied children seen at a large outpatient clinic over a four-year period who had one or more of these neurologic abnormalities and for whom no specific cause for their abnormalities could be found. The group totaled 274 children (163 boys; 111 girls) whose ages ranged from 2 weeks to 17 years. Characteristics were IQ/DQ, 30 to 70 in the 115 for whom scores were available; 41% had seizures; 15% had sensorineural hearing loss; 54% showed gross motor delay or ataxia; and 27% had decreased muscle tone. One patient with a classical clinical picture of biotinidase deficiency was diagnosed during the study period and was not included in the study. None of the patients with nonclassic findings had a deficiency of biotinidase activity. Our results suggest that biotinidase deficiency does not account for a large proportion of children with unexplained neurologic abnormalities or developmental delay. This does not negate the importance of biotinidase testing in children with clinical patterns specifically suggestive of the deficiency.