Psychometric validation of the Italian version of the I-QoL questionnaire: clinical and urodynamic findings.

INTRODUCTION AND HYPOTHESIS: The aim was to validate the Italian version of the Incontinence-Quality of Life questionnaire (I-QoL) in women with clinical and urodynamic urinary incontinence (UI). A secondary end point was to compare the results of women with reported UI, but negative urodynamic findings. METHODS: The Italian translation of the I-QoL was administered to 267 Italian women with pelvic organ prolapse < stage III, and who had undergone previous surgical or medical therapy for UI. Cronbach's alpha was calculated to assess internal consistency of the I-QoL items. Reproducibility was assessed using the intraclass correlation coefficient (ICC). Convergent validity involved comparison of I-QoL scores and the Short Form-36 Health questionnaire. RESULTS: One hundred and sixty-seven patients were considered for the primary end point: 47 had a negative history of UI and a normal urodynamic test, 120 complained of UI confirmed by a urodynamic test, 59 had a positive history for UI and a urodynamic test negative for UI, and 35 patients not reporting UI had a positive urodynamic test. The I-QoL score revealed that the QoL was lower in patients with reported UI, irrespective of urodynamic findings. The overall I-QoL summary score and subscales showed high internal consistency (alpha ranges from 0.88 to 0.96). ICC ranged from 0.98 to 0.99, demonstrating the stability of the scores. The physical domain of the I-QoL showed a 0.27 correlation with the physical functioning subscale of the SF-36. No significant difference in I-QoL scores was found among various types of UI. CONCLUSION: The Italian translated version of the I-QoL is reliable, consistent and a valid instrument for assessing impact on quality of life in Italian speaking women with UI.

Effectiveness of bibliographic searches performed by paediatric residents and interns assisted by librarians. A randomised controlled trial.

BACKGROUND: Considerable barriers still prevent paediatricians from successfully using information retrieval technology. OBJECTIVES: To verify whether the assistance of biomedical librarians significantly improves the outcomes of searches performed by paediatricians in biomedical databases using real-life clinical scenarios. METHODS: In a controlled trial at a paediatric teaching hospital, nine residents and interns were randomly allocated to an assisted search group and nine to a non-assisted (control) group. Each participant searched PubMed and other online sources, performing pre-determined tasks including the formulation of a clinical question, retrieval and selection of bibliographic records. In the assisted group, participants were supported by a librarian with ≥5 years of experience. The primary outcome was the success of search sessions, scored against a specific assessment tool. RESULTS: The median score of the assisted group was 73.6 points interquartile range (IQR = 13.4) vs. 50.4 (IQR = 17.1) of the control group. The difference between median values in the results was 23.2 points (95% CI 4.8-33.2), in favour of the assisted group (P-value, Mann-Whitney U test: 0.013). CONCLUSIONS: The study has found quantitative evidence of a significant difference in search performance between paediatric residents or interns assisted by a librarian and those searching the literature alone.

Iron overload in patients receiving allogeneic hematopoietic stem cell transplantation: quantification of iron burden by a superconducting quantum interference device (SQUID) and therapeutic effectiveness of phlebotomy.

Iron overload (IO) is a known adverse prognostic factor in patients who undergo allogeneic hematopoietic stem cell transplantation (HSCT) for thalassemia and appears to play a similar role in patients with other hematologic disorders. The estimation of IO is based primarily on serum ferritin level; however, many confounding factors can result in ferritin overestimation, especially in HSCT recipients. The aim of the present study was to quantify IO after HSCT using a superconducting quantum interference device (SQUID), and to evaluate the impact of IO on hepatic function and infections. In addition, the feasibility of iron depletion was investigated. A total of 102 consecutive allogeneic HSCT recipients admitted to our outpatient department between December 2005, and December 2007, were analyzed. Primary diagnosis included acute leukemia/myelodysplastic syndrome in 61% of cases. Assessment of IO after HSCT included serum ferritin; in those with hyperferritinemia (ferritin>1000 ng/mL), liver iron concentration (LIC) was evaluated by SQUID magnetic susceptometry. Iron removal therapy was offered to patients with moderate IO (LIC 1000-2000 microg Fe/g wet weight [ww]) or severe IO (LIC >2,000 microg Fe/g ww). Fifty-seven patients had a ferritin level <1000 ng/mL: the median time between HSCT and assessment of ferritin level was 1006 days (range, 93-5239 days), significantly different from the median time of 183 days (range, 78-2957 days) in the 45 patients with a ferritin level >1000 ng/mL. Out of 42 patients evaluated by SQUID, 29 had moderate to severe IO (median LIC value, 1493 microg Fe/g ww [range, 1030-3253]). In a multivariate analysis, a significant correlation was found between a ferritin level >1000 ng/mL and the presence of at least one abnormal liver function test (LFT) ORo=6.8; 95% CI=2.2-20.6). In addition, the rate of proven/probable invasive fungal disease was significantly higher in the patients with hyperferritinemia (13% vs 0%; P=.006). Nineteen of the 24 patients considered eligible for iron-depletion therapy underwent regular phlebotomy; 13 completed the program in a median of 287 days (range, 92-779 days), reaching the target of a ferritin level<500 ng/mL; LIC was significantly reduced (median, 1419 microg Fe/g ww to 625 microg Fe/g ww; P < .001) in 8 of the 9 patients who were revaluated by SQUID at the end of the iron-depletion program. In conclusion, the measurement of LIC obtained by SQUID documented the presence of moderate/severe IO in 69% of the patients with a high ferritin level. Our data showed that in HSCT recipients, high ferritin level is an independent risk factor for abnormal LFTs, and IO may be considered a potential risk factor for fungal infections. A phlebotomy program may be feasible in two-thirds of the patients who might benefit from iron depletion.

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.

BACKGROUND: Diamond-Blackfan anemia is a rare, pure red blood cell aplasia of childhood due to an intrinsic defect in erythropoietic progenitors. About 40% of patients display various malformations. Anemia is corrected by steroid treatment in more than 50% of cases; non-responders need chronic transfusions or stem cell transplantation. Defects in the RPS19 gene, encoding the ribosomal protein S19, are the main known cause of Diamond-Blackfan anemia and account for more than 25% of cases. Mutations in RPS24, RPS17, and RPL35A described in a minority of patients show that Diamond-Blackfan anemia is a disorder of ribosome biogenesis. Two new genes (RPL5, RPL11), encoding for ribosomal proteins of the large subunit, have been reported to be involved in a considerable percentage of patients. DESIGN AND METHODS: In this genotype-phenotype analysis we screened the coding sequence and intron-exon boundaries of RPS14, RPS16, RPS24, RPL5, RPL11, and RPL35A in 92 Italian patients with Diamond-Blackfan anemia who were negative for RPS19 mutations. RESULTS: About 20% of the patients screened had mutations in RPL5 or RPL11, and only 1.6% in RPS24. All but three mutations that we report here are new mutations. No mutations were found in RPS14, RPS16, or RPL35A. Remarkably, we observed a higher percentage of somatic malformations in patients with RPL5 and RPL11 mutations. A close association was evident between RPL5 mutations and craniofacial malformations, and between hand malformations and RPL11 mutations. CONCLUSIONS: Mutations in four ribosomal proteins account for around 50% of all cases of Diamond-Blackfan anemia in Italian patients. Genotype-phenotype data suggest that mutation screening should begin with RPL5 and RPL11 in patients with Diamond-Blackfan anemia with malformations.

Long-term follow-up analysis after rituximab therapy in children with refractory symptomatic ITP: identification of factors predictive of a sustained response.

We report the long-term follow-up (median 39.5 months) of 49 paediatric patients (33 females and 16 males) with refractory symptomatic immune thrombocytopenic purpura (ITP) treated with rituximab. The overall response rate was 69% (34/49 patients). Twenty-one responders had a platelet count >50 x 10(9)/l at a median 20.2 months from treatment. Kaplan-Meier analysis showed a probability of relapse-free survival (RFS) of 60% at 36 months from the first rituximab infusion. The number of infusions and a previous splenectomy did not influence overall response rate. Patients who achieved complete response were significantly older at diagnosis and first rituximab infusion than partial responders (P = 0.027). Older children displayed a significantly greater probability of sustained response (RFS) at 36 months than younger children (88.9% vs. 56.7%, P = 0.037). Earlier responses (within 20 d from treatment) were significantly associated with both complete (P = 0.004) and sustained response (P = 0.002). Only mild and transient side-effects were observed in 9/49 children; no major infections nor delayed toxicities were recorded during the follow-up.

High nontransferrin bound iron levels and heart disease in thalassemia major.

Although the presence of nontransferrin bound plasma iron (NTBI) in transfusional iron overload is well documented, knowledge about its clinical significance is limited. We assessed NTBI levels in a large and homogeneous series of thalassemia patients on regular transfusion and chelation and explored the hypothesis that NTBI levels may be associated with relevant clinical outcomes: in particular, heart disease. Among 174 patients with thalassemia major and intermedia, we showed the presence NTBI in 145 of 174 or 83.3% of cases. NTBI levels correlated with transferrin saturation, age, and ALT, and not with serum ferritin or liver iron concentrations. At a multiple regression analysis, transferrin saturation and heart disease but not age was independent predictors of NTBI. Patients with heart disease had NTBI levels significantly higher than those without. All patients with heart disease had transferrin saturation above 70%, and all were NTBI positive. Conversely, none of the patients without NTBI and/or with transferrin saturation less than 70% had preclinical or clinical heart disease. To our knowledge, this is the first documentation of a link between the presence of NTBI in thalassemic patients with transfusional iron overload and heart disease. Further investigation from these preliminary findings may clarify whether NTBI assessment may have a role in evaluating the risks and optimizing treatment for transfusion-dependent patients.

Respiratory symptoms in children living near busy roads and their relationship to vehicular traffic: results of an Italian multicenter study (SIDRIA 2).

BACKGROUND: Epidemiological studies have provided evidence that exposure to vehicular traffic increases the prevalence of respiratory symptoms and may exacerbate pre-existing asthma in children. Self-reported exposure to road traffic has been questioned as a reliable measurement of exposure to air pollutants. The aim of this study was to investigate whether there were specific effects of cars and trucks traffic on current asthma symptoms (i.e. wheezing) and cough or phlegm, and to examine the validity of self-reported traffic exposure. METHODS: The survey was conducted in 2002 in 12 centers in Northern, Center and Southern Italy, different in size, climate, latitude and level of urbanization. Standardized questionnaires filled in by parents were used to collect information on health outcomes and exposure to traffic among 33,632 6-7 and 13-14 years old children and adolescents. Three questions on traffic exposure were asked: the traffic in the zone of residence, the frequency of truck and of car traffic in the street of residence. The presence of a possible response bias for the self-reported traffic was evaluated using external validation (comparison with measurements of traffic flow in the city of Turin) and internal validations (matching by census block, in the cities of Turin, Milan and Rome). RESULTS: Overall traffic density was weakly associated with asthma symptoms but there was a stronger association with cough or phlegm (high traffic density OR = 1.24; 95% CI: 1.04, 1.49). Car and truck traffic were independently associated with cough or phlegm. The results of the external validation did not support the existence of a reporting bias for the observed associations, for all the self-reported traffic indicators examined. The internal validations showed that the observed association between traffic density in the zone of residence and respiratory symptoms did not appear to be explained by an over reporting of traffic by parents of symptomatic subjects. CONCLUSION: Children living in zones with intense traffic are at higher risk for respiratory effects. Since population characteristics are specific, the results of validation of studies on self-reported traffic exposure can not be generalized.

Looking for a relation between serum leptin concentration and body composition parameters in healthy term infants in the first 6 months of life.

We carried out a cross-sectional study of 115 healthy infants, younger than 6 months old, exclusively breast-fed or formula-fed, to investigate correlations between circulating leptin concentrations and body composition measurements. Serum leptin was evaluated with radioimmunoassay, and body composition with bioelectrical impedance analysis. Multiple regression analysis showed a relationship between serum leptin and body mass index in the entire study population (P = 0.042). There was a significant negative relationship between serum leptin and phase angle (P = 0.006) in formula-fed infants. Serum leptin was positively related to subscapular skinfold thickness (P = 0.055) and negatively to reactance (P = 0.057) only in formula-fed infants, although the differences were just below significance. Serum leptin concentration was higher in breast-fed infants (P = 0.002), and was not correlated with body composition parameters. This study indicates that there is a relation between leptin and infant body composition in the first months of life, although the link needs to be explored further.

Enhanced Atomic Desorption of 209 and 210 Francium from Organic Coating.

Controlled atomic desorption from organic Poly-DiMethylSiloxane coating is demonstrated for improving the loading efficiency of 209,210Fr magneto-optical traps. A three times increase in the cold atoms population is obtained with contact-less pulsed light-induced desorption, applied to different isotopes, either bosonic or fermionic, of Francium. A six times increase of 210Fr population is obtained with a desorption mechanism based on direct charge transfer from a triboelectric probe to the adatom-organic coating complex. Our findings provide new insight on the microscopic mechanisms of atomic desorption from organic coatings. Our results, obtained at room temperature so as to preserve ideal vacuum conditions, represent concrete alternatives, independent from the atomic species in use, for high-efficiency laser cooling in critical conditions.

Quantitative analysis of 2-furfural and 5-methylfurfural in different Italian vinegars by headspace solid-phase microextraction coupled to gas chromatography-mass spectrometry using isotope dilution.

A new method was developed for the determination of 2-furfural (2-F) and 5-methylfurfural (5-MF), two products of Maillard reaction in vinegar, with head-space solid-phase microextraction (HS-SPME) coupled to gas chromatography-mass spectrometry (GC-MS). A divinylbenzene (DVB)/carboxen (CAR)/polydimethylsiloxane (PDMS) fibre was used and SPME conditions were optimised, studying ionic strength effect, temperature effect and adsorption time. Both analytes were determined by calibration established on 2-furfural-d4 (2-F-d4). The method showed good linearity in the range studied (from 16 to 0.12 mg/l), with a regression coefficient r2 of 0.9999. Inter-batch precision and accuracy were found between 14.9 and 6.0% and between -11.7 and 0.2%, respectively. Detection limit was 15 microg/l. The method is simple and accurate and it has been applied to a series of balsamic and non-balsamic vinegars.

Oxidative stress in stable cystic fibrosis patients: do we need higher antioxidant plasma levels?

UNLABELLED: Oxidative stress plays an important role in cystic fibrosis (CF). However, there is a lack of validated biomarkers of oxidative damage that correlate with the antioxidant needs of patients with CF. OBJECTIVE: To investigate oxidative stress in stable pediatric CF patients and evaluate if vitamin supplementation may be tailored to individual needs and oxidative status. RESULTS: Lipid-adducts 4-hydroxynonenal (HNE-L) and malonaldehyde (MDA-L) (chromolipids) were elevated in the majority of patients despite normal plasma vitamin E, A and C. HNE-L and MDA-L increased with age, while plasma vitamins decreased. The most relevant correlation was identified between vitamin C and chromolipids. Patients with pancreatic insufficiency (PI) showed significantly higher plasma chromolipids despite no differences in plasma vitamins. CONCLUSIONS: The majority of patients showed elevated plasma chromolipids that increased with age. Antioxidant vitamin reference ranges provide incomplete information on the redox status. CF patients with PI showed excessive oxidative stress damage.

Multipotent mesenchymal stromal stem cell expansion by plating whole bone marrow at a low cellular density: a more advantageous method for clinical use.

Mesenchymal stem cells (MSCs) are a promising source for cell therapy due to their pluripotency and immunomodulant proprieties. As the identification of "optimal" conditions is important to identify a standard procedure for clinical use. Percoll, Ficoll and whole bone marrow directly plated were tested from the same sample as separation methods. The cells were seeded at the following densities: 100 000, 10 000, 1000, 100, 10 cells/cm(2). After reaching confluence, the cells were detached, pooled and re-plated at 1000, 500, 100, and 10 cells/cm(2). Statistical analyses were performed. Cumulative Population Doublings (PD) did not show significant differences for the separation methods and seeding densities but only for the plating density. Some small quantity samples plated in T25 flasks at plating densities of 10 and 100 cells/cm(2) did not produce any expansion. However, directly plated whole bone marrow resulted in a more advantageous method in terms of CFU-F number, cellular growth and minimal manipulation. No differences were observed in terms of gross morphology, differentiation potential or immunophenotype. These data suggest that plating whole bone marrow at a low cellular density may represent a good procedure for MSC expansion for clinical use.

High faecal calprotectin levels in healthy, exclusively breast-fed infants.

BACKGROUND: Faecal calprotectin has been proposed as a sensitive marker for gastrointestinal inflammation in children and adults. High levels have been reported in healthy newborns and during the first months of life; the effect of the kind of feeding on the calprotectin concentration in stools is controversial. OBJECTIVE: To evaluate faecal calprotectin values in healthy, exclusively breast-fed (BF) or formula-fed (FF) infants. METHODS: Stool samples were obtained from 74 healthy infants (39 exclusively BF and 35 exclusively FF) with a median age of 51 days (range 13-90). Exclusion criteria were acute infections and treatment with anti-inflammatory drugs. Stool samples were stored at -20 degrees C until they were analysed, and the faecal calprotectin concentration was detected using a commercial quantitative enzyme-linked immunoassay (Calprest; Eurospital SpA, Trieste, Italy). RESULTS: The median faecal calprotectin concentration was significantly higher in BF infants (555.00 microg/g, range 122.5-2,000.0 microg/g) than in FF ones (206.60 mug/g, range 31.2-797.6 microg/g) (p < 0.001). We observed a significantly higher median stool frequency in BF infants than in FF ones (p < 0.001), but multiple regression analysis (independent variables: kind of feeding and stool frequency; dependent variable: calprotectin) showed a significant coefficient for the kind of feeding, but not for stool frequency (p = 0.937). CONCLUSIONS: Our findings show that the kind of feeding influences the faecal calprotectin concentration, with higher values in healthy exclusively BF infants than in FF ones. Our study does not allow us to clearly identify the reason for our finding; this could be due to hormones (such as ghrelin and leptin), cytokines and other immunostimulating and growth factors (such as epidermal growth factor and granulocyte colony-stimulating factor) in human milk, which contribute to the development of the gastrointestinal immune system. Further investigations are needed to better clarify the mechanism underlying the relationship between feeding and faecal calprotectin levels in young infants.

Perfusion index variations in clinically and hemodynamically stable preterm newborns in the first week of life.

BACKGROUND: The perfusion index, derived from the pulse oximeter signal, seems to be an accurate predictor for high illness severity in newborns. The aim of this study was to determine the perfusion index values of clinically and hemodynamically stable preterm newborns in the first week of life. METHODS: Perfusion index recordings were performed on the first, third and seventh day of life on 30 preterm newborns. Their state of health was assessed according to clinical and behaviour evaluation and to the Score for Neonatal Acute Physiology. RESULTS: The median(interquartile range) perfusion index values were 0.9(0.6) on the first, 1.2(1.0) on the third, and 1.3(0.9) on the seventh day, with a significant increase between the first and the third day. CONCLUSIONS: Perfusion index proved to be an easily applicable, non-invasive method for monitoring early postnatal changes in peripheral perfusion. Its trend during the first week of life suggests that its clinical application should take age into account. Further studies are needed to obtain reference perfusion index values from a larger sample of preterm newborns, to identify specific gestational age-related cut-off values for illness and to test the role of perfusion index in monitoring critically ill neonates.

Lactobacillus reuteri DSM 17938 in infantile colic: a randomized, double-blind, placebo-controlled trial.

OBJECTIVE: To test the efficacy of Lactobacillus reuteri on infantile colic and to evaluate its relationship to the gut microbiota. STUDY DESIGN: Fifty exclusively breastfed colicky infants, diagnosed according to modified Wessel's criteria, were randomly assigned to receive either L reuteri DSM 17 938 (10(8) colony-forming units) or placebo daily for 21 days. Parental questionnaires monitored daily crying time and adverse effects. Stool samples were collected for microbiologic analysis. RESULTS: Forty-six infants (L reuteri group: 25; placebo group: 21) completed the trial. Daily crying times in minutes/day (median [interquartile range]) were 370 (120) vs 300 (150) (P=.127) on day 0 and 35.0 (85) vs 90.0 (148) (P=.022) on day 21, in the L reuteri and placebo groups, respectively. Responders (50% reduction in crying time from baseline) were significantly higher in the L reuteri group versus placebo group on days 7 (20 vs 8; P=.006), 14 (24 vs 13; P=.007), and 21 (24 vs 15; P=.036). During the study, there was a significant increase in fecal lactobacilli (P=.002) and a reduction in fecal Escherichia coli and ammonia in the L reuteri group only (P=.001). There were no differences in weight gain, stooling frequency, or incidence of constipation or regurgitation between groups, and no adverse events related to the supplementation were observed. CONCLUSION: L. reuteri DSM 17 938 at a dose of 10(8) colony-forming units per day in early breastfed infants improved symptoms of infantile colic and was well tolerated and safe. Gut microbiota changes induced by the probiotic could be involved in the observed clinical improvement.