Red cell folate in elderly patients with myelodysplastic syndrome

During a 7-month period a prospective study of 71 anaemic patients (29 males and 42 females) over the age of 50 was undertaken in order to identify patients with myelodysplastic syndrome (MDS). The mean values of mean corpuscular volume (MCV), serum ferritin, folate, vitamin B12 and red cell folate (RCF) of patients grouped according to the diagnosis were compared to those observed in age-matched blood donors. Forty-four of the 71 elderly patients showed macrocytic anaemia: 21 of them had gastric disease and the remaining 23 MDS. Two further patients with MDS showed microcytic anaemia. The 25 patients diagnosed with MDS were subclassified according to the FAB nomenclature: 9 had a refractory anaemia with excess of blasts and 16 refractory anaemia. The mean values of MCV, serum folate, ferritin, vitamin B-12 and RCF were statistically different between patients with macrocytic anaemia due to gastric disease and patients with MDS. Among patients with MDS, the RCF level pathologically high was inversely correlated to the haemoglobin level (r=-0.39; p <0.05). Thus the RCF and serum folate may represent useful parameters for the diagnosis of MDS in elderly anaemic patients

Folate status in Italian blood donors: relation to gender and smoking

Background and Objectives. Folate deficiency in the general population is associated with a risk of cardiovascular disease and various cancers. The aim of this study was to evaluate folate status in Italian blood donors and its relationship with gender and smoking habit. Design and Methods. A prospective study of 201 first visit donors (99 males and 102 females) was undertaken to evaluate folate status by measuring serum folate (SF) and red blood cell folate (RCF) levels and relating these with gender and smoking habit (100 smokers and 101 non-smokers). Results. The rates of SF level less than 6.8 nmol/L and RCF less than 340 nmol/L were 9.9% and 25.3%, respectively in Italian blood donors. Mean RCF level was significantly lower(p<0.05) in females than in males and in smokers compared to in nonsmokers (p<0.001). The risk of reduced RCF levels in smokers was related to the number of cigarettes smoked per day, more than nine cigarettes increased the relative risk (RR) of low RCF level to 2.93 (95% C.I.: 1.34-6.41). Interpretation and Conclusions. This study suggests that folate deficiency, evaluated by RCF and SF levels, is widespread in Italian blood donors. Moreover, RCF values seem related to gender in non-smokers and modified by smoking habit, according to the number of cigarettes smoked per day. (C) 2000, Ferrata Storti Foundation

RET genotypes comprising specific haplotypes of polymorphic variants are associated with sporadic medullary thyroid cancer

Many single nucleotide polymorphisms (SNPs) of the RET gene have been described both in the general population and in patients with sporadic medullary thyroid cancer (sMTC), MEN2 or Hirschsprung disease. Some association studies reported a higher prevalence of these variants in the affected patients, suggesting a possible role in modifying the risk of occurrence of the disease. However, data from different cohorts of sMTC are discrepant and the aim of the present study was to determine if a variant per se or a combination of variants predispose to sMTC. Thus, a possible association of RET haplotype(s) and disease was looked for in 82 patients affected with sMTC and 49 age matched controls. Six RET SNPs were studied by PCR and direct sequencing. The most frequent SNPs were those in intron 1 (30 and 32% in sMTC and controls, respectively), exon 2 (22 and 24%) and exon 13 (24 and 26%). No significant differences were observed in the prevalence of single SNPs between patients and controls, including G691S, which is the only non-synonymous variant. Accordingly, functional analyses did not reveal an increased autophosphorylation for G691S. Twelve unique haplotypes, labelled A-N, were obtained. The distribution of haplotypes between cases and controls were significantly different (P<0.05). The study of the association of these different haplotypes in cases and controls lead to the identification of 30 different genotypes. Inspection of the genotypes in the two groups showed that the genotype distribution between cases and controls was different (P<0.05). In particular, there were 7 genotypes unique to controls, 13 unique to sMTC and 11 shared by the 2 groups. For example, AA, AC, AD and AH, all of which containing one allele without polymorphisms, are prominently or uniquely represented in sMTC. These data suggest that genotypes comprising specific pairs of RET haplotypes are associated with predisposition to sMTC. In this series, the absence on both alleles of the 6 SNPs analyzed was recorded only for MTC cases, indicating that the presence of RET variants could be protective against cancer development

Adherence to European Society of Gastrointestinal Endoscopy recommendations of endoscopists performing small bowel capsule endoscopy in Italy

Background: The European Society of Gastrointestinal Endoscopy (ESGE) has recently issued a technical review focused on small bowel capsule endoscopy (SBCE). Aim: To compare SBCE current practice in Italy to ESGE technical recommendations. Material and methods: A dedicated per-centre semi-quantitative questionnaire was prepared by a group of SBCE experts. One-hundred-fifty Centres were invited to participate in the data collection concerning SBCEs performed between June 2016 and June 2017. Data were compared with ESGE recommendations. Results: 120 Centres participated in the data collection. Current practices agreed with ESGE recommendations in 56.3% (9/16) of the issues evaluated. Differences between ESGE recommendations and current practice concerned the management of patients with pacemakers or cardiac implantable defibrillators (which was in agreement with ESGE recommendations in 31.7% and 15.8% of Centres, respectively), the SBCE setting (only 51% of SBCEs were performed as outpatients procedures), the assessment of capsule excretion (timing and modality were in agreement with ESGE recommendation in 20.0% of Centres), and in the involvement of trained nurses or fellows in training as pre-readers (7/120; 5.8%). Conclusions: Although SBCE is widely used and largely available in Italy, there are still some technical, practical and organizational issues that can be modified to bridge the gap between current practice and ESGE guideline recommendations