19 research outputs found

    The blood count as a compass to navigate in the ever-changing landscape of the carrier state of hemoglobinopathies: a single-center Italian experience

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    IntroductionApproximately 7% of the worldwide population exhibits variations in the globin genes. The recent migration of populations from countries where hemoglobin disorders are endemic has resulted in important epidemiological changes with the diffusion of newly discovered or poorly characterized genetic variants and new combinations and very heterogeneous clinical phenotypes. The aim of our study is to assess the parameters that are more significant in predicting a positive genetic testing outcome for hemoglobinopathies in a pediatric population of patients presenting with anemia or microcythemia, without a definite diagnosis.Methods and materialsThis study included patients evaluated in our hematological outpatient clinic for anemia and/or microcythemia despite normal ferritin levels. A screening of pathological hemoglobins using high-performance liquid chromatography (HPLC) was performed for the entire population of the study. Subsequently, patients with hemoglobin (Hb) S trait and patients with an HPLC profile compatible with beta thalassemia trait were excluded from the study. Genetic screening tests for hemoglobinopathies were performed on the remaining patients, which involved measuring the red blood cell (RBC) counts, red blood cells distribution width (RDW), reticulocyte count, and mean corpuscular volume of reticulocytes (MCVr).ResultsThis study evaluated a total of 65 patients, consisting of nine patients with negative genetic analysis results and 56 patients with positive genetic analysis results. The Hb and RDW values in these two groups did not demonstrate statistical significance. On the other hand, there were statistically significant differences observed in the mean corpuscular volume (MCV), RBC count, reticulocyte count, and MCVr between the two groups. Furthermore, in the group of patients with positive genetic test results, specific genetic findings associated with different HPLC results were observed. In particular, 13 patients with positive genetic test results had normal HPLC findings.DiscussionThis study has demonstrated that HPLC, while serving as a valuable first-level test, has some limitations. Specifically, it has been observed that some patients may exhibit a negative HPLC result despite a positive genetic analysis. In addition to the presence of low levels of Hb and HPLC alterations, other parameters could potentially indicate the underlying mutations in the globin genes. Therefore, we propose that the complete blood cell count be utilized as a widely available parameter for conducting targeted genetic analyses to avoid the risk of overlooking rare hemoglobinopathies

    1.'Redeunt Saturnia regna'. Profezia e poesia in Tommaso Campanella2.Ispirati da quale dio? Giordano Bruno e le parole della sapienza3.La fortuna seicentesca degli Oracula Sybillina4. Gli Oracula Sibyllina nel Rinascimento5. Profezia e spiritualismo: i Collegianti olandesi del Seicento

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    I cinque interventi sono stati presentati nell'ambito del Convegno "Le parole del futuro. Poesia e profezia nell’etĂ  moderna", che, organizzato da Eugenio Canone, si Ăš tenuto presso l'Istituto per gli Studi Filosofici di Napoli dall'8 al 9 ottobre. Gli Atti sono in corso di stampa sul secondo facicolo 2005 della rivista "Bruniana & Campanelliana".Per quanto riguarda Campanella, il suo ultimo scritto Ăš una Ecloga in esametri latini, scritta in occasione della nascita a lungo attesa del Delfino di Francia, il futuro Re Sole. Celebrando l’evento, l’autore auspica che il futuro sovrano possa realizzare una profonda renovatio della cristianitĂ  e del mondo tutto. Nei versi, e nelle annotazioni della composizione, Campanella ripropone ancora una vota tematiche e fonti profetiche che avevano giocato un ruolo di primo piano nella sua vita e nel suo pensiero, a partire dalla tentata congiura di Calabria. Il saggio intende ripercorrere i momenti e i motivi piĂč significativi di tale tensione profetica, con particolare attenzione per la loro presenza all’interno delle composizioni poetiche

    Advanced glycation end product intake during pregnancy and offspring allergy outcomes: prospective cohort study

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    Background: Associations have been shown between concurrent assessment of dietary intake of AGEs and childhood allergic outcomes. We examined the association between maternal AGEs intake and development of offspring asthma, wheeze, atopic dermatitis, allergic rhinitis, and food allergies, and sought to determine whether intake of AGEs was associated with cord sera cytokines/chemokines. Methods: Pregnant women ≄ 16 years were recruited in the Healthy Start study, a prospective pre-birth cohort from Colorado (N =1410). The analysis included 962 dyads with adequate diet (≄2 recalls) and allergy outcome details. AGEs intake was estimated for each mother by matching intakes reported using 24-hour dietary recalls during pregnancy to a reference database of commonly consumed foods’ AGEs values. Child diagnoses of asthma and allergies up to 8 years were obtained from electronic medical records. Cord sera cytokines and chemokines were analyzed in a subset (N = 462) of children. Results: The median [IQR] AGEs intake for the overall sample was 11919 kU/day [8293, 16573]. Unadjusted analysis showed a positive association between maternal AGEs intake in pregnancy and rhinitis up to 8 years of age (HR = 1.03; 95% CI: 1.01, 1.06), but the association was attenuated and no longer significant in adjusted models (HR = 1.01; 95% CI: 0.98, 1.04). Both adjusted and unadjusted models showed no associations between AGEs intake in pregnancy and any of the other outcomes (p>0.05). There were no significant associations between any cytokine or chemokine measured and AGEs intake or any of the outcomes studied (p>0.05). Conclusion: The study showed that maternal AGEs intake was not associated with offspring asthma and allergy outcomes. AGEs exposure during pregnancy may not have the same impact on child development to postnatal exposure

    A short PNA targeting coxsackievirus B3 5'-nontranslated region prevents virus-induced cytolysis

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    Targeting regulatory RNA regions to interfere with the biosynthesis of a protein is an intriguing alternative to targeting a protein itself. Regulatory regions are often unique in sequence and/or structure and, thus, ideally suited for specific recognition with a low risk of undesired side effects. Targeting regulatory RNA elements, however, is complicated by their complex three-dimensional structure, which poses kinetic and thermodynamic constraints to the recognition by a complementary oligonucleotide. Oligonucleotide mimics, which shift the thermodynamic equilibrium towards complex formation and yield stable complexes with a target RNA, can overcome this problem. Peptide nucleic acids (PNA) represent such a promising class of molecules. PNA are very stable, non-ionic compounds and they are not sensitive to enzymatic degradation. Yet, PNA form specific base pairs with a target sequence. We have designed, synthesised and characterised PNA able to enter infected cells and to bind specifically to a control region of the genomic RNA of coxsackievirus B3 (CVB3), which is an important human pathogen. The results obtained by studying the interaction of such PNA with their RNA target, the entrance into the cell and the viral inhibition are herein presented

    Radiological diagnosis of Coronavirus Disease 2019 (COVID - 19): a practical guide

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    Novel beta-coronavirus (2019-nCoV) is the cause of Coronavirus disease-19 (COVID-19), and on March 12th 2020, the World Health Organization defined COVID-19 as a controllable pandemic. Currently, the 2019 novel coronavirus (SARS-CoV-2) can be identified by virus isolation or viral nucleic acid detection; however, false negatives associated with the nucleic acid detection provide a clinical challenge. Imaging examination has become the indispensable means not only in the early detection and diagnosis but also in monitoring the clinical course, evaluating the disease severity, and may be presented as an important warning signal preceding the negative RT-PCR test results. Different radiological modalities can be used in different disease settings. Radiology Departments must be nimble in implementing operational changes to ensure continued radiology services and protect patients and staff health

    Associations between child filaggrin mutations and maternal diet with the development of allergic diseases in children

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    BackgroundFilaggrin (FLG) loss-of-function mutations in children and maternal diet in pregnancy have been implicated in child allergy outcomes. This paper studies the questions: “do FLG mutations modify the effect of maternal diet on the odds of development of allergic diseases?” and “which factor leads to the highest rate of diagnosis allergic diseases over time, maternal diet, or FLG mutations?”.MethodsExact logistic regressions studied effect modification. Cox proportional hazard models compared the rate of allergic disease development in three groups (N = 624): (1) children with FLG mutation, (2) children without FLG mutation whose mothers did not eat an allergy preventive diet, and (3) children without FLG mutation whose mothers ate an allergy preventive diet. Maternal diet was classified using a validated index.ResultsCox models showed the development of atopic dermatitis, asthma, and wheeze was significantly higher for children in group 1 versus 3 (HR = 2.40 [1.32, 4.37], HR = 2.29 [1.05, 4.97], and HR 2.10 [1.004, 4.38], respectively), but not significantly higher for children in group 1 versus 2 (HR = 1.30 [0.74, 2.29], HR = 1.27 [0.61, 2.63], and HR = 1.29 [0.65, 2.58], respectively). Development of allergic rhinitis was significantly higher for group 1 versus 2 and 3 (1 vs. 2: HR = 2.29 [1.10, 4.76]; 1 vs. 3: HR = 3.21 [1.46, 7.08]). There was no significant effect modification for any outcome.ConclusionChildren with FLG mutation had similar risk of atopic dermatitis, asthma, and wheeze as children without an FLG mutation whose mothers did not eat an allergy preventive diet during pregnancy. Child FLG mutation did not modify the effect of maternal diet. The results suggest that maternal diet in pregnancy, a modifiable risk factor, could be a target for preventive interventions
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