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Sosnowiec, Poland

Cameron D.,University of Toronto | Dua S.,COTA Health | Noy S.,Pediatric Center
Physical and Occupational Therapy in Pediatrics | Year: 2010

Investigators have identified delays and differences in cognitive, language, motor, and sensory development in children with Down syndrome (DS). The purpose of this study was to determine the parent-reported frequency of sensory processing issues in children with DS aged 3-10 years, and the parent-reported functional impact of those sensory issues. Parents completed the short sensory profile (SSP) and a parent questionnaire (PQ). SSP results revealed a total score definite difference rate of 49%. Highest rates of probable and definite difference were in the low energy/weak, underresponsive/seeks sensation, and auditory filtering subsections of the SSP. Themes were generated from responses on the PQ regarding the functional impact of sensory differences on occupational performance in their children with DS, and related strategies currently used by parents. Findings from the study provide information to parents and health care professionals regarding sensory processing patterns in children with DS, and provide foundational data for future research. © 2010 Informa Healthcare USA, Inc.

Koukos G.,University of California at Los Angeles | Polytarchou C.,University of California at Los Angeles | Kaplan J.L.,Pediatric Center | Oikonomopoulos A.,University of California at Los Angeles | And 7 more authors.
Inflammatory Bowel Diseases | Year: 2015

Background: Twenty to 25% of the patients with inflammatory bowel disease (IBD) present the disease before the age of 18 to 20, with worse extent and severity, compared with adult-onset IBD. We sought to identify the differential expression of microRNAs in pediatric ulcerative colitis (UC) and their association with different clinical phenotypes. Methods: MicroRNA expression analysis was performed in colonic tissues derived from pediatric patients with UC and controls without IBD. MiR-4284 levels were verified by real-time quantitative polymerase chain reaction in 2 additional cohorts of pediatric patients with UC. Bioinformatics analysis was performed to predict the targets of miR-4284. In vitro experiments using luciferase reporter assays and real-time polymerase chain reaction evaluated the direct effect of miR-4284 on CXCL5 mRNA. In vivo experiments were performed in 2 mouse models of experimental colitis. Results: A 24-microRNA signature was identified in colonic tissues derived from pediatric patients with UC. The most downregulated microRNA in the tissue of pediatric patients UC, relative to non-IBD controls, was miR-4284. In situ hybridization revealed that miR-4284 is present in colonic epithelial cells, and its levels correlate with the disease activity. Furthermore, we found that miR-4284 regulates CXCL5 mRNA expression through binding to its 3′UTR. CXCL5 had increased mRNA levels in colonic tissue from pediatric patients with UC and correlated with disease activity. Furthermore, we found an inverse correlation between miR-4284 and CXCL5 levels in the colonic pediatric UC tissues and in 2 mouse models of experimental colitis. Conclusions: Our data reveal a novel microRNA pediatric UC signature and provide evidence that miR-4284 directly regulates CXCL5 and correlates with the disease activity. © 2015 Crohn's & Colitis Foundation of America, Inc.

Simon-Keller K.,University of Mannheim | Paschen A.,University of Duisburg - Essen | Hombach A.A.,University of Cologne | Strobel P.,University of Gottingen | And 12 more authors.
American Journal of Pathology | Year: 2013

Cellular immunotherapy may provide a strategy to overcome the poor prognosis of metastatic and recurrent rhabdomyosarcoma (RMS) under the current regimen of polychemotherapy. Because little is known about resistance mechanisms of RMS to cytotoxic T cells, we investigated RMS cell lines and biopsy specimens for expression and function of immune costimulatory receptors and anti-apoptotic molecules by RT-PCR, Western blot analysis, IHC, and cytotoxicity assays using siRNA or transfection-modified RMS cell lines, together with engineered RMS-directed cytotoxic T cells specific for the fetal acetylcholine receptor. We found that costimulatory CD80 and CD86 were consistently absent from all RMSs tested, whereas inducible T-cell co-stimulator ligand (ICOS-L; alias B7H2) was expressed by a subset of RMSs and was inducible by tumor necrosis factor α in two of five RMS cell lines. Anti-apoptotic survivin, along with other inhibitor of apoptosis (IAP) family members (cIAP1, cIAP2, and X-linked inhibitor of apoptosis protein), was overexpressed by RMS cell lines and biopsy specimens. Down-regulation of survivin by siRNA or pharmacologically in RMS cells increased their susceptibility toward a T-cell attack, whereas induction of ICOS-L did not. Treatment of RMS-bearing Rag-/- mice with fetal acetylcholine receptor-specific chimeric T cells delayed xenograft growth; however, this happened without definitive tumor eradication. Combined blockade of survivin and application of chimeric T cells in vivo suppressed tumor proliferation during survivin inhibition. In conclusion, survivin blockade provides a strategy to sensitize RMS cells for T-cell-based therapy. Copyright © 2013 American Society for Investigative Pathology.

Landmann E.,Justus Liebig University | Kollerits B.,Innsbruck Medical University | Kreuder J.G.,Justus Liebig University | Blum W.F.,Eli Lilly and Company | And 2 more authors.
Hormone Research in Paediatrics | Year: 2012

Background/Aims: In postnatal life, polymorphisms in the promoter region of IGFBP3 were associated with insulin-like growth factor binding protein (IGFBP)-3 plasma levels. Whether these associations exist in utero has not been studied yet. Polymorphisms in the IGF1 promoter (polymorphic CA-repeat) and the insulin gene variable number tandem repeats locus (INS VNTR) are further polymorphisms of interest, because associations with birth weight have been reported. We aimed to investigate associations between polymorphisms in the promoter regions of IGF1 (wild type 192 bp), IGFBP3 (rs2854744; rs13241830), and INS VNTR (rs689) with cord plasma levels of IGF-I, IGF-II, and IGFBP-3. Methods: We measured IGF-I, IGF-II, and IGFBP-3 concentrations in cord blood from 677 neonates and genotyped the selected polymorphisms. Results: Carriers of the minor allele of both polymorphisms in the IGFBP3 gene had, on average, 4-5% lower IGFBP-3 levels per copy of the respective minor allele (p = 0.002 and p = 0.028) when compared to wild type carriers. The IGF1 promoter and the INS VNTR polymorphisms were not associated with IGF-I, IGF-II, or IGFBP-3 levels. Conclusions: Our data show associations of cord plasma IGFBP-3 levels and the IGFBP3 gene variants but not of IGF1 promoter and INS VNTR polymorphisms with IGF-I, IGF-II, or IGFBP-3 levels in utero. Copyright © 2012 S. Karger AG, Basel.

Mentessidou A.,Pediatric Center | Mirilas P.,Pediatric Center
Journal of Pediatric Surgery | Year: 2015

Little is known about the possibility that ruptured appendicitis may produce a false sonographic appearance of intussusception. We present here a case of a periappendiceal phlegmon mimicking ileocolic intussusception on ultrasound in a 3.5-year-old girl and provide a surgico-anatomic explanation on the basis of the intraoperative findings for the false sonographic image. CT imaging was used to make the diagnosis. Intraoperatively, it was revealed that the cecum and sigmoid, which were adherent to each other with pseudomembranes, formed an intestinal mass around the appendix. Accordingly, the appendicolith at the center of the phlegmon was responsible for the central echogenicity, and the surrounding cecum and sigmoid for the external hypoechoic and hyperechoic rings of the target-sign appearing mass on the preoperative ultrasound. Such an understanding of the etiology of the false sonographic image may help to increase awareness and avoid misdiagnosis. © 2015 Elsevier Inc.

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