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Abstract Introduction Crohn's disease (CD) can affect any part of the alimentary tract from the mouth to the anus, with most common site being the terminal ileum. Case presentation A child suffering from undiagnosed Crohn disease (CD), presented with an acute abdominal obstruction due to a large pseudopolyp in the jejunoileal area. At laparotomy, a jejunoileal segment of 45 cm, containing multiple areas of damage to the small intestine, was excised and a primary end – to – end anastomosis was performed. Conclusion The coexistence of an intestinal pseudopolyp with undiagnosed Crohn's disease may be the cause of acute abdominal obstruction in children.

Metabolic syndrome (MS) is a constellation of metabolic derangements associated with vascular endothelial dysfunction and oxidative stress and is widely regarded as an inflammatory condition, accompanied by an increased risk for cardiovascular disease. The present study tried to investigate the implications of telomerase activity with inflammation and impaired endothelial function in patients with metabolic syndrome. Telomerase activity in circulating peripheral blood mononuclear cells (PBMC), TNF-α, IL-6 and ADMA were monitored in 39 patients with MS and 20 age and sex-matched healthy volunteers. Telomerase activity in PBMC, TNF-α, IL-6 and ADMA were all significantly elevated in patients with MS compared to healthy volunteers. PBMC telomerase was negatively correlated with HDL and positively correlated with ADMA, while no association between TNF-α and IL-6 was observed. IL-6 was increasing with increasing systolic pressure both in the patients with MS and in the healthy volunteers, while smoking and diabetes were positively correlated with IL-6 only in the patients' group. In conclusion, in patients with MS characterised by a strong dyslipidemic profile and low diabetes prevalence, significant telomerase activity was detected in circulating PBMC, along with elevated markers of inflammation and endothelial dysfunction. These findings suggest a prolonged activity of inflammatory cells in the studied state of this metabolic disorder that could represent a contributory pathway in the pathogenesis of atherosclerosis.

Heart-hand syndromes are a genetic heterogeneous family of disorders, which are characterised by congenital cardiac and forelimb anomalies. We describe a deletion on chromosome 6, which seems to be connected to the phenotypic expression of a heart-hand syndrome in many affected members of a family who, in addition to the characteristic hypoplastic, manifested hyperplastic skeletal abnormalities. This newly discovered chromosomal abnormality confirms once more the genetic heterogeneity of the syndrome., (Copyright 2004 Elsevier Ireland Ltd.)

We present an unusual case of solitary renal mass that histological examination following nephrectomy confirms that it was a neurofibroma. Neoplasmatic markers though, were found elevated and chromosomal analysis revealed a Karyotype similar to the one found in adenocarcinomas of the kidney.

Thirty hairy cell leukemia patients were evaluated repeatedly for their bone marrow (BM) histology. At the time of diagnosis, 18 (60%) had diffuse, 9 (30%) had interstitial, and 2 (10%) had a mixed (diffuse and interstitial) pattern of BM disease. The follow-up BM specimens were obtained at intervals of 3-24 months, and the follow-up observation period was 12-94 months. In patients who were nontreated or only splenectomized, no significant changes were observed except of a persistent megaloblastoid picture of the red cell series and an increase of BM fibrosis. In the alpha-interferon treated patients a complete disappearance of hairy cells was observed in one and a dramatic reduction in five. The hairy cell index was reduced from a mean of 0.8 before to 0.1 after alpha-interferon therapy; most patients displayed megaloblastoid erythropoiesis. In the complete responder features of myelodysplasia were present.

Hb Knossos is a beta-chain variant (beta 27 Ser----Ala) that is unrecognizable by conventional separation methods but detectable by globin electrophoresis on urea-Triton X-acrylamide gels or by IEF. Hb Knossos is characterized by reduced synthesis and by interaction with beta-thalassemia, in which the double heterozygotes display typical features of thalassemia intermedia. The present paper summarizes the salient genetic, clinical, and biochemical characteristics of five such cases hitherto identified in three families along with the same features on 12 heterozygous Hb Knossos carriers. Hb Knossos displays a slightly decreased oxygen affinity; this factor may compensate in part for the severe anemia of the double heterozygotes. Hb Knossos is relatively rare in our population, since a prospective survey on 610 individuals has failed to disclose any heterozygotes. However, the mutation appears to have spread over the Mediterranean countries and may be more common elsewhere.

The incidence of monoclonal and oligoclonal immunoglobulins (paraproteins) was determined in serum samples of 45 chronic lymphocytic leukemia (B-CLL) patients using the high-resolution agarose gel electrophoresis technique combined with immunofixation. Paraproteins were identified in 25 of the 45 patients tested. Twelve paraproteins were monoclonal and 13 oligoclonal. IgG kappa and/or lambda immunoglobulin isotypes were found in 17/25 of these patients. No correlation of the lymphocyte cell morphology and the presence of paraproteins was demonstrated. The high frequency of serum oligoclonal immunoglobulins in B-CLL indicates that more than one lymphocyte clone may be present in this disease.