73 research outputs found
The Need for a Concert of Cytogenomic Methods in Chromosomic Research and Diagnostics
No full textThis review focuses on the experimental methods and technologies of cytogenomics and how they can be combined in the process of chromosomic diagnostics and research. It is stressed that no cytogenomic methods can be comprehensive on their own. The strengths and weaknesses of each method have to be considered. This is especially important in a time where the main stream of human genetics diagnostics is actively proclaiming that high throughput methods are able to replace all other established tests
Children with autism spectrum disorders (ASD) who exhibit chronic gastrointestinal (GI) symptoms and marked fluctuation of behavioral symptoms exhibit distinct innate immune abnormalities and transcriptional profiles of peripheral blood (PB) monocytes
No full textExpression profiling reveals MSX1 and EphB2 expression correlates with the invasion capacity of Wilms tumors
No full textBackground. Wilms tumor is the most common pediatric renal malignancy, but the parameters that are important to its invasion capacity are poorly understood. The aim of this study was to identify new proteins associated with the invasion capacity of Wilms tumor. Procedure. Gene expression profiles for 15 primary Wilms tumor samples were determined by Affymetrix Genechip (R) Human Genome Ul33A microarray analysis. The gene expression profiles for selected genes was further confirmed by quantitative RTPCR analysis. Immunohistochemical analysis was performed on 25 Wilms tumor cases to confirm expression for Bcl2A1, EphB2, MSX1, and RIN1. Results. Using microarray analysis 14 genes showed differential expression (P < 0.05) comparing stage 1 non-invasive Wilms tumor to stages 2-4 invasive Wilms tumor. The differential expression for Bcl2A1, EphB2, MSX1, and RIN1 was confirmed by quantitative RT-PCR. MSX1 protein was statistically significantly lower in stages 2-4 invasive Wilms tumor cases compared to stage 1 non-invasive cases (P = 0.013). EphB2 protein was higher in stages 2-4 Wilms tumor cases compared to stage 1 cases (P = 0.006). There was no statistically significant difference between stages 1 and 2-4 Wilms tumor for Bcl2A1 (P = 0.230) or RIN1 (P = 0.969) at the protein level. Conclusion. Our results indicate that MSX1 may be associated with the invasion capacity of Wilms tumors. RIN1 is a downstream effector of RAS and Bcl2A1 functions as an anti-apoptotic protein. EphB2 is an ephrin receptor and is up-regulated in invasive tumors but its role needs to be confirmed in further cases of Wilms tumors. Pediatr Blood Cancer 2011; 57: 950-957. (C) 2011 Wiley-Liss, Inc
Immunological characterization and transcription profiling of peripheral blood (PB) monocytes in children with autism spectrum disorders (ASD) and specific polysaccharide antibody deficiency (SPAD): case study
No full textAbstract Introduction There exists a small subset of children with autism spectrum disorders (ASD) characterized by fluctuating behavioral symptoms and cognitive skills following immune insults. Some of these children also exhibit specific polysaccharide antibody deficiency (SPAD), resulting in frequent infection caused by encapsulated organisms, and they often require supplemental intravenous immunoglobulin (IVIG) (ASD/SPAD). This study assessed whether these ASD/SPAD children have distinct immunological findings in comparison with ASD/non-SPAD or non-ASD/SPAD children. Case description We describe 8 ASD/SPAD children with worsening behavioral symptoms/cognitive skills that are triggered by immune insults. These ASD/SPAD children exhibited delayed type food allergy (5/8), treatment-resistant seizure disorders (4/8), and chronic gastrointestinal (GI) symptoms (5/8) at high frequencies. Control subjects included ASD children without SPAD (N = 39), normal controls (N = 37), and non-ASD children with SPAD (N = 12). Discussion and Evaluation We assessed their innate and adaptive immune responses, by measuring the production of pro-inflammatory and counter-regulatory cytokines by peripheral blood mononuclear cells (PBMCs) in responses to agonists of toll like receptors (TLR), stimuli of innate immunity, and T cell stimulants. Transcription profiling of PB monocytes was also assessed. ASD/SPAD PBMCs produced less proinflammatory cytokines with agonists of TLR7/8 (IL-6, IL-23), TLR2/6 (IL-6), TLR4 (IL-12p40), and without stimuli (IL-1ß, IL-6, and TNF-α) than normal controls. In addition, cytokine production of ASD/SPAD PBMCs in response to T cell mitogens (IFN-γ, IL-17, and IL-12p40) and candida antigen (Ag) (IL-10, IL-12p40) were less than normal controls. ASD/non-SPAD PBMDs revealed similar results as normal controls, while non-ASD/SPAD PBMCs revealed lower production of IL-6, IL-10 and IL-23 with a TLR4 agonist. Only common features observed between ASD/SPAD and non-ASD/SPAD children is lower IL-10 production in the absence of stimuli. Transcription profiling of PB monocytes revealed over a 2-fold up (830 and 1250) and down (653 and 1235) regulation of genes in ASD/SPAD children, as compared to normal (N = 26) and ASD/non-SPAD (N = 29) controls, respectively. Enriched gene expression of TGFBR (p Conclusions The Immunological findings in the ASD/SPAD children who exhibit fluctuating behavioral symptoms and cognitive skills cannot be solely attributed to SPAD. Instead, these findings may be more specific for ASD/SPAD children with the above-described clinical characteristics, indicating a possible role of these immune abnormalities in their neuropsychiatric symptoms.</p
Impaired Oral Tolerance in ASD Children with Food Protein Induced Enterocolitis Syndrome (FPIES) – Altered Innate and Adaptive Immune Responses in ASD Children Recovered from FPIES in Comparison with non-ASD/FPIES and ASD/non-FPIES Children
No full textNon
KAT6A amplifications are associated with shorter progression-free survival and overall survival in patients with endometrial serous carcinoma
No full textDetection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization
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