Iowa Division of Persons with Disabilities Annual Report, 2003

Agency Annual Report

Iowa Division of Persons with Disabilities Annual Report, 2002

Agency Annual Report

Iowa Division of Persons with Disabilities Annual Report, 2004

Annual report from Iowa Division of Persons with Disabilities

The results of surgery, with or without radiotherapy, for primary spinal myxopapillary ependymoma: a retrospective study from the rare cancer network.

PURPOSE: The aim of this study was to assess the outcome of patients with primary spinal myxopapillary ependymoma (MPE). MATERIALS AND METHODS: Data from a series of 85 (35 females, 50 males) patients with spinal MPE were collected in this retrospective multicenter study. Thirty-eight (45%) underwent surgery only and 47 (55%) received postoperative radiotherapy (RT). Median administered radiation dose was 50.4 Gy (range, 22.2-59.4). Median follow-up of the surviving patients was 60.0 months (range, 0.2-316.6). RESULTS: The 5-year progression-free survival (PFS) was 50.4% and 74.8% for surgery only and surgery with postoperative low- (<50.4 Gy) or high-dose (>or=50.4 Gy) RT, respectively. Treatment failure was observed in 24 (28%) patients. Fifteen patients presented treatment failure at the primary site only, whereas 2 and 1 patients presented with brain and distant spinal failure only. Three and 2 patients with local failure presented with concomitant spinal distant seeding and brain failure, respectively. One patient failed simultaneously in the brain and spine. Age greater than 36 years (p = 0.01), absence of neurologic symptoms at diagnosis (p = 0.01), tumor size >or=25 mm (p = 0.04), and postoperative high-dose RT (p = 0.05) were variables predictive of improved PFS on univariate analysis. In multivariate analysis, only postoperative high-dose RT was independent predictors of PFS (p = 0.04). CONCLUSIONS: The observed pattern of failure was mainly local, but one fifth of the patients presented with a concomitant spinal or brain component. Postoperative high-dose RT appears to significantly reduce the rate of tumor progression.

Respiratory surveillance of patients with Duchenne and Becker muscular dystrophy.

Duchenne muscular dystrophy is is the most common form of the childhood muscular dystrophies. It follows a predictable clinical course marked by progressive skeletal muscle weakness, lost of ambulation before teen-age and death in early adulthood secondary to respiratory or cardiac failure. Becker muscular dystrophy is less common and has a milder clinical course but also results in respiratory and cardiac failure.Altough recent advances in respiratory care and new technologies have improved the outlook many patients already received only a traditional non-interventional approach. The aims of this work are: to analyse the pathophysiology and natural history of respiratory function in these diseases, to descript their clinical manifestations, to present the diagnostics tools and to provide recommendations for an adequated respiratory care in this particular population based on the updated literature referenced.

Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma.

Cancer genomes frequently contain somatic copy number alterations (SCNA) that can significantly perturb the expression level of affected genes and thus disrupt pathways controlling normal growth. In melanoma, many studies have focussed on the copy number and gene expression levels of the BRAF, PTEN and MITF genes, but little has been done to identify new genes using these parameters at the genome-wide scale. Using karyotyping, SNP and CGH arrays, and RNA-seq, we have identified SCNA affecting gene expression ('SCNA-genes') in seven human metastatic melanoma cell lines. We showed that the combination of these techniques is useful to identify candidate genes potentially involved in tumorigenesis. Since few of these alterations were recurrent across our samples, we used a protein network-guided approach to determine whether any pathways were enriched in SCNA-genes in one or more samples. From this unbiased genome-wide analysis, we identified 28 significantly enriched pathway modules. Comparison with two large, independent melanoma SCNA datasets showed less than 10% overlap at the individual gene level, but network-guided analysis revealed 66% shared pathways, including all but three of the pathways identified in our data. Frequently altered pathways included WNT, cadherin signalling, angiogenesis and melanogenesis. Additionally, our results emphasize the potential of the EPHA3 and FRS2 gene products, involved in angiogenesis and migration, as possible therapeutic targets in melanoma. Our study demonstrates the utility of network-guided approaches, for both large and small datasets, to identify pathways recurrently perturbed in cancer.

KnotProt: a database of proteins with knots and slipknots.

The protein topology database KnotProt, http://knotprot.cent.uw.edu.pl/, collects information about protein structures with open polypeptide chains forming knots or slipknots. The knotting complexity of the cataloged proteins is presented in the form of a matrix diagram that shows users the knot type of the entire polypeptide chain and of each of its subchains. The pattern visible in the matrix gives the knotting fingerprint of a given protein and permits users to determine, for example, the minimal length of the knotted regions (knot's core size) or the depth of a knot, i.e. how many amino acids can be removed from either end of the cataloged protein structure before converting it from a knot to a different type of knot. In addition, the database presents extensive information about the biological functions, families and fold types of proteins with non-trivial knotting. As an additional feature, the KnotProt database enables users to submit protein or polymer chains and generate their knotting fingerprints.

Taking care of the most vulnerable : a descriptive study of patients with 12 attendances or more at a Swiss university hospital emergency department in 2009

Introduction: Patients who repeatedly attend the Emergency Department (ED) often have a distinct and complex vulnerability profile that includes poor somatic, psychological, and social indicators. This profile has an impact on the patients' well-being as well as on hospital costs. The objective of the study was to specify the characteristics of hyper users (HU) and explore the connection with ED care and hospital costs. Methods: The study sample comprised all adult patients with 12 or more attendances at the ED of the Lausanne University Hospital in 2009. The data were collected by retrospectively searching internal databases to identify the patients concerned and then analysing the profiles of these patients. Information gathered included demographic, somatic, psychological, at-risk behaviour, and social indicators, and health system consumption including costs. Results: In 2009, 23 patients (0.1%) attended 12 times or more (425 attendances, 0.8%). The average age was about 43 years, 60.9% were female, and 47.8% single. Of these 95.7% had basic insurance, 87.0% had a general practitioner, and 30.4% were under legal guardianship. The majority attended in the evening or at night (67.1%), and almost one quarter of these attendances resulted in inpatient treatment (24.0%). Most HU had attended the ED in previous years too (95.7% in 2008). The most prevalent diagnoses concerned 'mental disorders' (87.0%). About 30.4% of patients had attempted suicide (all were female patients). Other frequent diagnoses concerned 'trauma' (65.2%), and the 'digestive' and the 'nervous system' (each 56.5%). At-risk behaviour such as severe alcohol consumption (34.8%), or excessive use of medicines (26.1%) was very frequent, and some patients used illicit drugs (21.7%). There was only a weak association between the number of ED attendances and the resulting costs. However, a reduction of one outpatient visit per patient would have decreased ED outpatient costs by 8.5%. Conclusions: HU often have a particularly vulnerable profile. Mental problems are prevalent among them, as are at-risk behaviour and severe somatic conditions. The complexity of the patients' profiles demands specific care that cannot be guaranteed within an everyday ED routine. The use of an interdisciplinary case management team might be a promising approach in diminishing the number of attendances and the associated costs, although the profiles of HU are such that they probably cannot completely give up ED attendance.

Reverse transcriptase-dependent and -independent phases of infection with mouse mammary tumor virus: implications for superantigen function.

Mouse mammary tumor virus (MMTV) encodes a superantigen (SAg) that promotes stable infection and virus transmission. Upon subcutaneous MMTV injection, infected B cells present SAg to SAg-reactive T cells leading to a strong local immune response in the draining lymph node (LN) that peaks after 6 d. We have used the reverse transcriptase inhibitor 3'-azido-3'-deoxythymidine (AZT) to dissect in more detail the mechanism of SAg-dependent enhancement of MMTV infection in this system. Our data show that no detectable B or T cell response to SAg occurs in AZT pretreated mice. However, if AZT treatment is delayed 1-2 d after MMTV injection, a normal SAg-dependent local immune response is observed on day 6. Quantitation of viral DNA in draining LN of these infected mice indicates that a 4,000-fold increase in the absolute numbers of infected cells occurs between days 2 and 6 despite the presence of AZT. Furthermore MMTV DNA was found preferentially in surface IgG+ B cells of infected mice and was not detectable in SAg-reactive T cells. Collectively our data suggest that MMTV infection occurs preferentially in B cells without SAg involvement and is completed 1-2 d after virus challenge. Subsequent amplification of MMTV infection between days 2 and 6 requires SAg expression and occurs in the absence of any further requirement for reverse transcription. We therefore conclude that clonal expansion of infected B cells via cognate interaction with SAg-reactive T cells is the predominant mechanism for increasing the level of MMTV infection. Since infected B cells display a memory (surface IgG+) phenotype, both clonal expansion and possibly longevity of the virus carrier cells may contribute to stable MMTV infection.

Investigating Gaze of Children with ASD in Naturalistic Settings.

BACKGROUND: Visual behavior is known to be atypical in Autism Spectrum Disorders (ASD). Monitor-based eye-tracking studies have measured several of these atypicalities in individuals with Autism. While atypical behaviors are known to be accentuated during natural interactions, few studies have been made on gaze behavior in natural interactions. In this study we focused on i) whether the findings done in laboratory settings are also visible in a naturalistic interaction; ii) whether new atypical elements appear when studying visual behavior across the whole field of view. METHODOLOGY/PRINCIPAL FINDINGS: Ten children with ASD and ten typically developing children participated in a dyadic interaction with an experimenter administering items from the Early Social Communication Scale (ESCS). The children wore a novel head-mounted eye-tracker, measuring gaze direction and presence of faces across the child's field of view. The analysis of gaze episodes to faces revealed that children with ASD looked significantly less and for shorter lapses of time at the experimenter. The analysis of gaze patterns across the child's field of view revealed that children with ASD looked downwards and made more extensive use of their lateral field of view when exploring the environment. CONCLUSIONS/SIGNIFICANCE: The data gathered in naturalistic settings confirm findings previously obtained only in monitor-based studies. Moreover, the study allowed to observe a generalized strategy of lateral gaze in children with ASD when they were looking at the objects in their environment.

Department of Human Rights Division of Persons with Disabilities Annual Performance Plan Report, September 2005

This report is published in accordance with the Accountable Government Act to improve decision-making and increase accountability to stakeholders and citizens. This report contains performance information regarding our primary programs including, the Youth Leadership Forum, the College Leadership Forum, the State Access Grant and the Client Assistance Program. Major accomplishments this year include continuation of our core programs, a key role in the Iowa Great Places initiative and providing Cultural Competency training to governmental and non-governmental agencies.

Iowa Division of Persons with Disabilities Annual Report, 2003

This report highlights the achievements of the Division of Persons with Disabilities, especially new and innovative directions to improve the employment opportunities for Iowans with disabilities.

Iowa Commission of Persons with Disabilities Commission Members And Activities, July 1, 2001—June 30, 2002

Annual report from the disabilities commission members and activities.

Division of Persons With Disabilities Annual Report, 2002

This report highlights the achievements of the Division of Persons with Disabilities, especially new and innovative directions to improve the employment opportunities for Iowans with disabilities.