Crohn's Disease Medical and Health News Headlines

Grey-scale and colour Doppler sonography in the evaluation of children with suspected bowel inflammation: correlation with colonoscopy and histological findings.

Clin Radiol. 2008 Sep;63(9):968-78

Authors: Epifanio M, Baldisserotto M, Spolidoro JV, Gaiger A

AIM: To evaluate the correlation of grey-scale and colour Doppler sonography with colonoscopy and histology to detect bowel inflammation in children. MATERIAL AND METHODS: The records of 72 patients with suspected bowel inflammation were reviewed retrospectively. Patients were included in the study if sonography had been performed up to 30 days before colonoscopy. Grey-scale and colour Doppler sonography were used to evaluate bowel wall thickness and vascularity for the detection of distal bowel inflammation. Findings were correlated with colonoscopy and histological findings. The sensitivity and specificity of sonographic wall thickness to detect inflammation was determined. Spearman's coefficient (rs) was used to determine the correlation of Doppler findings with colonoscopy/histology. RESULTS: Sonograms of 372 bowel segments were evaluated and results were correlated with colonoscopy and histological findings of 352 segments. The sensitivity and specificity of sonographic bowel thickness to detect inflammation in the terminal ileum and the right colon were high; in the other segments, specificity was high but sensitivity was low. The correlation of Doppler sonography with colonoscopy and histology to detect inflammation in the terminal ileum was strong (rs: 0.84; p<0.001) and in the other segments, weak to moderate; when the interval between examinations was shorter than 10 days, the correlation was stronger in all segments. Of nine patients with abnormal small bowel sonograms but normal colonoscopies, three had Crohn's disease. CONCLUSION: Sensitivity and specificity of grey-scale sonography to detect inflammation in the terminal ileum and the right colon were high, and the correlation of Doppler with colonoscopy and histology was very strong in the same segments.

PMID: 18718226 [PubMed - in process]

An SNP-guided microRNA map of fifteen common human disorders identifies a consensus disease phenocode aiming at principal components of the nuclear import pathway.

Cell Cycle. 2008 Aug 30;7(16)

Authors: Glinsky GV

Recent large-scale genome-wide association (GWA) studies of SNP variations captured many thousands individual genetic profiles of H. sapiens and facilitated identification of significant genetic traits which are highly likely to influence the pathogenesis of several major human diseases. Here we apply the integrative genomics principles to interrogate relationships between structural features and gene expression patterns of disease-linked SNPs, microRNAs and mRNAs of protein-coding genes in association to phenotypes of 15 major human disorders, namely bipolar disease (BD); rheumatoid arthritis (RA); coronary artery disease (CAD); Crohn's disease (CD); type 1 diabetes (T1D); type 2 diabetes (T2D); hypertension (HT); ankylosing spondylitis (AS); Graves' disease (autoimmune thyroid disease; AITD); multiple sclerosis (MS); breast cancer (BC); prostate cancer (PC); systemic lupus erythematosus (SLE); vitiligo-associated multiple autoimmune disease (VIT); and ulcerative colitis (UC). We selected for sequence homology profiling a set of approximately 250 SNPs which were unequivocally associated with common human disorders based on multiple independent studies of 220,124 individual samples comprising 85,077 disease cases and 129,506 controls. Our analysis reveals a systematic primary sequence homology/complementarity-driven pattern of associations between disease-linked SNPs, microRNAs and protein-coding mRNAs defined here as a human disease phenocode. We utilize this approach to draw SNP-guided microRNA maps of major human diseases and define a consensus disease phenocode for fifteen major human disorders. A consensus disease phenocode comprises 72 SNPs and 18 microRNAs with an apparent propensity to target mRNA sequences derived from a single protein-coding gene, KPNA1. Each of microRNAs in this elite set appears linked to at least three common human diseases and has potential protein-coding mRNA targets among the principal components of the nuclear import pathway. We confirmed the validity of our findings by analyzing independent sets of most significant disease-linked SNPs and demonstrating statistically significant KPNA1-gene expression phenotypes associated with human genotypes of CD, BD, T2D and RA populations. Our analysis supports the idea that variations in DNA sequences associated with multiple human diseases may affect phenotypes in trans via non-protein-coding RNA intermediaries interfering with functions of microRNAs and defines the nuclear import pathway as a potential major target in 15 common human disorders.

PMID: 18719369 [PubMed - as supplied by publisher]

Clinical and genetic aspects of Blau syndrome: A 25-year follow-up of one family and a literature review.

Autoimmun Rev. 2008 Aug 18;

Authors: Punzi L, Furlan A, Podswiadek M, Gava A, Valente ML, De Marchi M, Peserico A

Blau syndrome (BS) is a rare familial disease transmitted as an autosomal dominant trait, characterized by arthritis, uveitis, skin rash and granulomatous inflammation. Until now BS has been observed in 136 persons belonging to 28 families as well as in 4 sporadic cases. The gene responsible for BS has recently been identified in the nucleotide-binding domain (NBD) of caspase recruitment domain (CARD15/NOD2), also involved in the pathogenesis of Crohn's disease. In addition to three missense mutations (R334Q, R334W and L469F) previously identified, a new CARD 15 mutation (E383K) has recently been described in a family followed by us for the past 25 years. The characteristics of this family which, to our knowledge, is the only one affected with BS in Italy, are the object of this manuscript. Both the proband and her daughter were originally affected with a papulonodular skin eruption and then with mild arthritis of the hands and feet. The proband, but not the daughter, complained of severe chronic bilateral uveitis, followed by glaucoma and, a few years later, by cataracts. Histological examination of skin biopsies from both subjects and a joint biopsy (daughter only), showed non-caseating granulomas with multinucleated giant cells which, at electron microscopy, revealed "comma-shaped bodies" in epithelioid cells, thought to be a marker for BS. The disease is presently well controlled with low doses of prednisone for the mother and non-steroidal anti-inflammatory drugs (NSAIDs) plus low doses of prednisone, when necessary, for the daughter. As in Crohn's disease, CARD 15/NOD2 mutation is believed to be responsible for the granulomatous autoinflammatory reactions probably triggered by microorganisms in BS.

PMID: 18718560 [PubMed - as supplied by publisher]