Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.

OBJECTIVE: To develop and compare two new technologies for diagnosing a contiguous gene syndrome, the Williams-Beuren syndrome (WBS). METHODS: The first proposed method, named paralogous sequence quantification (PSQ), is based on the use of paralogous sequences located on different chromosomes and quantification of specific mismatches present at these loci using pyrosequencing technology. The second exploits quantitative real time polymerase chain reaction (QPCR) to assess the relative quantity of an analysed locus. RESULTS: A correct and unambiguous diagnosis was obtained for 100% of the analysed samples with either technique (n = 165 and n = 155, respectively). These methods allowed the identification of two patients with atypical deletions in a cohort of 182 WBS patients. Both patients presented with mild facial anomalies, mild mental retardation with impaired visuospatial cognition, supravalvar aortic stenosis, and normal growth indices. These observations are consistent with the involvement of GTF2IRD1 or GTF2I in some of the WBS facial features. CONCLUSIONS: Both PSQ and QPCR are robust, easy to interpret, and simple to set up. They represent a competitive alternative for the diagnosis of segmental aneuploidies in clinical laboratories. They have advantages over fluorescence in situ hybridisation or microsatellites/SNP genotyping for detecting short segmental aneuploidies as the former is costly and labour intensive while the latter depends on the informativeness of the polymorphisms.

Social dysfunctioning after mild to moderate first-ever stroke at vocational age.

BACKGROUND: With improvements in stroke treatments, the number of patients with dramatic recovery is increasing. However, many of them are still complaining of difficulties in returning to work and every day activities. The aim was to assess work and social dysfunctioning in patients with minor to moderate stroke and explore its contributing factors. METHODS: Consecutive patients were prospectively included at a median 7 months after a first-ever stroke. Scores on the Work and Social Adjustment Scale (WSAS), a generic self-reported scale for assessing social functioning, were correlated with scores on the National Institutes of Health Stroke Scale (NIHSS), activities of daily living, Hospital Anxiety and Depression scale (HAD) and MMSE, Iowa Scale of Personality Changes and return to work at 1 year. RESULTS: Among the 84 included patients (mean age 43.5 years), 57 (68%; 95% CI 57 to 78%) complained of significant perturbation of functioning attributed to stroke. WSAS was highly significantly related to modified Rankin scale, daily living activities, Iowa Scale of Personality Changes and return to work at 1 year. Using ordinal logistic regression, the contributors to WSAS were initial neurological severity (NIHSS at admission), HAD and MMSE. CONCLUSIONS: The study showed that up to 68% of our patients complained of significant work and social dysfunction due to stroke, despite a good clinical outcome. This self-estimation was correlated to external validation criteria, stressing the high burden of stroke from the patient's viewpoint. Moreover, when compared across diseases, social dysfunctioning after mild stroke was as important as in other major disabling diseases.

CT dose optimization when changing to CT multi-detector row technology

The purpose of this article was to review the strategies to control patient dose in adult and pediatric computed tomography (CT), taking into account the change of technology from single-detector row CT to multi-detector row CT. First the relationships between computed tomography dose index, dose length product, and effective dose in adult and pediatric CT are revised, along with the diagnostic reference level concept. Then the effect of image noise as a function of volume computed tomography dose index, reconstructed slice thickness, and the size of the patient are described. Finally, the potential of tube current modulation CT is discussed.

Report on a review of selected general and application controls over the Iowa State University of Science and Technology Room and Board System for the period of April 9, 2012 through May 1, 2012

Report on a review of selected general and application controls over the Iowa State University of Science and Technology Room and Board System for the period of April 9, 2012 through May 1, 2012

Audit report of Iowa State University of Science and Technology as of and for the year ended June 30, 2012

Audit report of Iowa State University of Science and Technology as of and for the year ended June 30, 2012

Monitoring of malaria parasite resistance to chloroquine and sulphadoxine-pyrimethamine in the Solomon Islands by DNA microarray technology.

BACKGROUND: Little information is available on resistance to anti-malarial drugs in the Solomon Islands (SI). The analysis of single nucleotide polymorphisms (SNPs) in drug resistance associated parasite genes is a potential alternative to classical time- and resource-consuming in vivo studies to monitor drug resistance. Mutations in pfmdr1 and pfcrt were shown to indicate chloroquine (CQ) resistance, mutations in pfdhfr and pfdhps indicate sulphadoxine-pyrimethamine (SP) resistance, and mutations in pfATPase6 indicate resistance to artemisinin derivatives. METHODS: The relationship between the rate of treatment failure among 25 symptomatic Plasmodium falciparum-infected patients presenting at the clinic and the pattern of resistance-associated SNPs in P. falciparum infecting 76 asymptomatic individuals from the surrounding population was investigated. The study was conducted in the SI in 2004. Patients presenting at a local clinic with microscopically confirmed P. falciparum malaria were recruited and treated with CQ+SP. Rates of treatment failure were estimated during a 28-day follow-up period. In parallel, a DNA microarray technology was used to analyse mutations associated with CQ, SP, and artemisinin derivative resistance among samples from the asymptomatic community. Mutation and haplotype frequencies were determined, as well as the multiplicity of infection. RESULTS: The in vivo study showed an efficacy of 88% for CQ+SP to treat P. falciparum infections. DNA microarray analyses indicated a low diversity in the parasite population with one major haplotype present in 98.7% of the cases. It was composed of fixed mutations at position 86 in pfmdr1, positions 72, 75, 76, 220, 326 and 356 in pfcrt, and positions 59 and 108 in pfdhfr. No mutation was observed in pfdhps or in pfATPase6. The mean multiplicity of infection was 1.39. CONCLUSION: This work provides the first insight into drug resistance markers of P. falciparum in the SI. The obtained results indicated the presence of a very homogenous P. falciparum population circulating in the community. Although CQ+SP could still clear most infections, seven fixed mutations associated with CQ resistance and two fixed mutations related to SP resistance were observed. Whether the absence of mutations in pfATPase6 indicates the efficacy of artemisinin derivatives remains to be proven.

Technology News, February 1997

Technology News is a newsletter produced by the Iowa Department of Transportation to provide information to the transportation specialist in Iowa's cities and counties. Technology News is one of CTRE's primary avenues for exchanging transportation-related information with local agencies. The bimonthly newsletter gives an up-to-date look to the up-to-date information our 2,500+ readers have grown to expect.

Technology News, December 1998-January 1999

Technology News is a newsletter produced by the Iowa Department of Transportation to provide information to the transportation specialist in Iowa's cities and counties. Technology News is one of CTRE's primary avenues for exchanging transportation-related information with local agencies. The bimonthly newsletter gives an up-to-date look to the up-to-date information our 2,500+ readers have grown to expect.

Technology News, April 1997

Technology News is a newsletter produced by the Iowa Department of Transportation to provide information to the transportation specialist in Iowa's cities and counties. Technology News is one of CTRE's primary avenues for exchanging transportation-related information with local agencies. The bimonthly newsletter gives an up-to-date look to the up-to-date information our 2,500+ readers have grown to expect.

Technology News, June 1997

Technology News is a newsletter produced by the Iowa Department of Transportation to provide information to the transportation specialist in Iowa's cities and counties. Technology News is one of CTRE's primary avenues for exchanging transportation-related information with local agencies. The bimonthly newsletter gives an up-to-date look to the up-to-date information our 2,500+ readers have grown to expect.

Technology News, August 1997

Technology News is a newsletter produced by the Iowa Department of Transportation to provide information to the transportation specialist in Iowa's cities and counties. Technology News is one of CTRE's primary avenues for exchanging transportation-related information with local agencies. The bimonthly newsletter gives an up-to-date look to the up-to-date information our 2,500+ readers have grown to expect.

Technology News, October 1997

Technology News is a newsletter produced by the Iowa Department of Transportation to provide information to the transportation specialist in Iowa's cities and counties. Technology News is one of CTRE's primary avenues for exchanging transportation-related information with local agencies. The bimonthly newsletter gives an up-to-date look to the up-to-date information our 2,500+ readers have grown to expect.

Technology News, February-March 1998

Technology News is a newsletter produced by the Iowa Department of Transportation to provide information to the transportation specialist in Iowa's cities and counties. Technology News is one of CTRE's primary avenues for exchanging transportation-related information with local agencies. The bimonthly newsletter gives an up-to-date look to the up-to-date information our 2,500+ readers have grown to expect.