2014 – pediatrician.li

Publikation: Two-step approach

The authors reference as the basis for their summary the different evidence based guidelines that have been developed over recent years, and a literature search, whose search strategy included,among others, all publications from the past 10 years identified by using the search terms “celiac disease” and “diagnosis”

S Razeghi focuses on the importance of symptoms in the ESPEGHAN recommendation for the rare case in which a duo-denal biopsy is not needed (in a child or adolescent with at least tenfold raised anti-TG2-IgA and EMA confirmation, positivity for HLA-DQ2 or DQ8). If this is applied in any symptom that raises suspicions of celiac disease (for example, abdominal pain), the expected result will be diagnostic overkill. The ESPAGHAN guidelines refer, among others, to the Dahlborn study (reference 27 in our article) (1), in which a highly significant or a significant difference in the TG2-IgA titers existed between children with severe malabsorption and mild symptoms.
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Decreased Expression of Genes Associated with Memory and X-Linked Mental Retardation in Boys with Non-Syndromic Cryptorchidism and High Infertility Risk

An elevated odds ratio for low IQ has been found for cryptorchid boys. Furthermore, poor school performance has been observed in cryptorchid boys with impaired mini-puberty.

Gene expression analysis, qPCR and immunohistology wereperformed on testicular biopsies from 7 boys who under-went orchiopexy and had testicular histology typical of ahigh risk of infertility (HIR). The results were compared with12 biopsies from cryptorchid boys with a low risk for develop-ing infertility. The following genes associated with mentalretardation were identically expressed: GDI1, OPHN1, PAK3,ARHGEF6, IL1RAPL, ACSL4, MECP2, RPS6KA3, ARX, and ATRX.However, boys in the HIR group had low or no expression ofEGR4, FMR2 (AFF2) and VCX3A. In conclusion, impaired ex-pression of genes known to encode proteins involved in sig-naling pathways that regulate cytoskeletal organization, syn-aptic vesicle transport and the establishment of connectionsbetween neuronal cells may contribute to reduced intellec-tual and cognitive functioning in infertile cryptorchid males.
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Publikation 'Master Gene'

The purpose of early medical or surgical treatment of boys with undescended testes is to prevent the development ofinf ertility. However, early and successful surgery cannot pre-vent infertility in cryptorchid boys who lack type A dark (Ad) spermatogonia. The aim of this study was to compare the gene expression pattern of patients with completed trans-formation of gonocytes into Ad spermatogonia, associated with low infertility risk, with patients that had failed to un-dergo this process and had a high infertility risk. Genes ex-pressed in the 16 cryptorchid testes were estimated using Affymetrix whole-genome microarray and compared to the expression profiles from four contralateral gonads of boys with unilateral testicular agenesis. Whole-genome expres-sion profiling showed that boys in the high infertility riskgroup according to testicular histology, showed decreasedor lack of expression of most of the genes essential for hypo-thalamo-pituitary-testicular axis function relative to low or intermediate risk group as well as controls. In particular,EGR4, which is involved in regulating the secretion of lutein-izing hormone, was virtually not expressed.
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