Circulating Biomarkers for Monitoring Chemotherapy-Induced Cardiotoxicity in Children.

Most commonly diagnosed cancer pathologies in the pediatric population comprise leukemias and cancers of the nervous system. The percentage of cancer survivors increased from approximatively 50% to 80% thanks to improvements in medical treatments and the introduction of new chemotherapies. However, as a consequence, heart disease has become the main cause of death in the children due to the cardiotoxicity induced by chemotherapy treatments.

Effect of Salt Addition and Fermentation Time on Phenolics, Microbial Dynamics, Volatile Organic Compounds, and Sensory Properties of the PDO Table Olives of Gaeta (Italy).

'Oliva di Gaeta' is almost certainly the most important and well-known PDO denomination for table olives in Italy. Their production is based on a specific two-stage trade preparation called the 'Itrana' method. In this work, we investigated how variations in the duration of the initial water fermentation (i.

From advanced diagnosis to advanced resection in early neoplastic colorectal lesions: Never-ending and trending topics in the 2020s.

Colonoscopy represents the most widespread and effective tool for the prevention and treatment of early stage preneoplastic and neoplastic lesions in the panorama of cancer screening. In the world there are different approaches to the topic of colorectal cancer prevention and screening: different starting ages (45-50 years); different initial screening tools such as fecal occult blood with immunohistochemical or immune-enzymatic tests; recto-sigmoidoscopy; and colonoscopy. The key aspects of this scenario are composed of a proper bowel preparation that ensures a valid diagnostic examination, experienced endoscopist in detection of preneoplastic and early neoplastic lesions and open-minded to upcoming artificial intelligence-aided examination, knowledge in the field of resection of these lesions (from cold-snaring, through endoscopic mucosal resection and endoscopic submucosal dissection, up to advanced tools), and management of complications.

Clinical characteristics of a large cohort of patients with narcolepsy candidate for pitolisant: a cross-sectional study from the Italian PASS Wakix® Cohort.

Introduction: Narcolepsy is a chronic and rare hypersomnia of central origin characterized by excessive daytime sleepiness and a complex array of symptoms as well as by several medical comorbidities. With growing pharmacological options, polytherapy may increase the possibility of a patient-centered management of narcolepsy symptoms. The aims of our study are to describe a large cohort of Italian patients with narcolepsy who were candidates for pitolisant treatment and to compare patients' subgroups based on current drug prescription (drug-naïve patients in whom pitolisant was the first-choice treatment, switching to pitolisant from other monotherapy treatments, and adding on in polytherapy).

Comprehensive Molecular Analysis of Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.

Duchenne/Becker muscular dystrophy (DMD/BMD) is an X-linked neuromuscular disease due to pathogenic sequence variations in the dystrophin ( gene, one of the largest human genes. More than 70% of gene defects result from genomic rearrangements principally leading to large deletions, while the remaining are small nucleotide variants, including nonsense and missense variants, small insertions/deletions or splicing alterations. Considering the large size of the gene and the wide mutational spectrum, the comprehensive molecular diagnosis of DMD/BMD is complex and may require several laboratory methods, thus increasing the time and costs of the analysis.

A prospective study on quality in endoscopic retrograde cholangiopancreatography (ERCP): trend in Italy from the REQUEST study.

Endoscopic retrograde cholangiopancreatography (ERCP) is a complex procedure with a relatively high rate of adverse events. Data on training of operators and fulfillment of quality indicators in Italy are scarce. The goal of this study was to assess the overall quality of ERCP in Italy compared to international standards.

Palliation of malignant esophageal obstruction using an anti-migration self-expandable metal stent: Results of a prospective multicenter study.

Background: Self-expanding metal stents (SEMS) placement is primarily indicated to palliate dysphagia for patients with expected short-term survival. We aimed to assess the migration rate and other stent-related adverse events (AEs) of a fully covered SEMS with an anti-migration system (FCSEMS-AMS) for palliation of malignant dysphagia.

Methods: This is a prospective study including patients with inoperable esophageal cancer that received a FCSEMS-AMS (Taewoong, Niti-S Beta™), in five tertiary-care endoscopic centers from January 2014 to February 2016.

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.

Background: Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases, including choroideremia (CHM), a rare X-linked eye disorder arising from sequence alteration of the CHM gene. Herein we report an exonic frameshift variant associated with an mRNA splicing alteration that leads to a CHM hypomorphic allele.

Methods: Total RNA and genomic DNA were extracted from peripheral blood of a patient affected by a mild form of CHM.

Valorization of Olive Mill Wastewater by Membrane Processes to Recover Natural Antioxidant Compounds for Cosmeceutical and Nutraceutical Applications or Functional Foods.

Olive oil boasts numerous health benefits due to the high content of the monounsaturated fatty acid (MUFA) and functional bioactives including tocopherols, carotenoids, phospholipids, and polyphenolics with multiple biological activities. Polyphenolic components present antioxidant properties by scavenging free radicals and eliminating metabolic byproducts of metabolism. The objective of this research project was to recover the biologically active components rich in polyphenols, which include treatment of olive oil mills wastewater, and, at the same time, to remove the pollutant waste component resulting from the olive oil manufacturing processes.

Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing.

Background: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Together with fragile X-associated tremor and ataxia (FXTAS) and fragile X-associated premature ovarian failure (POF)/primary ovarian insufficiency (POI), FXS depends on dysfunctional expression of the FMR1 gene on Xq27.3.

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene.

Exon deletions in the human DMD gene, which encodes the dystrophin protein, are the molecular defect in 50-70% of cases of Duchenne/Becker muscular dystrophies. Deletions are preferentially clustered in the 5' (exons 2-20) and the central (exons 45-53) region of DMD, likely because local DNA structure predisposes to specific breakage or recombination events. Notably, innovative therapeutic strategies may rescue dystrophin function by homology-based specific targeting of sequences within the central DMD hot spot deletion region.

The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth.

Background: The development of technologies that detect monogenic diseases in embryonic and fetal samples are opening novel diagnostic possibilities for preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) thereby changing laboratory practice. Molecular diagnostic laboratories use different workflows for PND depending on the disease, type of biological sample, the presence of one or more known mutations, and the availability of the proband. Paternity verification and contamination analysis are also performed.

Oleic acid content of a meal promotes oleoylethanolamide response and reduces subsequent energy intake in humans.

Animal data suggest that dietary fat composition may influence endocannabinoid (EC) response and dietary behavior. This study tested the hypothesis that fatty acid composition of a meal can influence the short-term response of ECs and subsequent energy intake in humans. Fifteen volunteers on three occasions were randomly offered a meal containing 30 g of bread and 30 mL of one of three selected oils: sunflower oil (SO), high oleic sunflower oil (HOSO) and virgin olive oil (VOO).

Healthy virgin olive oil: a matter of bitterness.

Virgin olive oil (VOO) is the pillar fat of Mediterranean diet. It is made from olive fruits and obtained by squeezing olives without any solvent extraction. Respect to the seed oils, an unique polar polyphenol-rich fraction gives VOO a bitter and pungent taste.

Is there a relation between genetic or social groups of mallard ducks and the circulation of low pathogenic avian influenza viruses?

We investigated the circulation dynamics of low pathogenic avian influenza viruses (LPAIVs) in the mallard (Anas platyrhynchos) reservoir in Italy. In particular, we evaluated the temporal distribution of virologic findings by combining virus isolation data with a new population genetic-based study approach. Thus, during 11 consecutive sampling periods (wintering periods between 1993/94 and 2003/04), categorised into 40 sampling sub-periods, cloacal swab samples were collected from 996 wild and 16 captive-reared mallards, to be screened by RT-PCR before attempting influenza A virus isolation in embryonated eggs.

Extra virgin olive oil: from composition to "molecular gastronomy".

The aim of this chapter is to provide a brief overview of the recent results of studies on extra virgin olive oil (EVOO) and its interactions with other food ingredients during cooking, to highlight basic molecular aspects of the "magic" of EVOO and its role in Mediterranean gastronomy. The use of raw EVOO added to foods after cooking (or as a salad oil) is the best way to express the original flavour and to maximize the intake of natural antioxidants and compounds related to positive effects on human health (hypotensive, anti-inflammatory, and anti-cancerogenic, among others). EVOO, however, also exhibits its protective properties during/after cooking.

Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.

Background: Neuromuscular disease is a broad term that encompasses many diseases that either directly, via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairs muscle function. Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases, i.e.

Effect of carbonation on brain processing of sweet stimuli in humans.

Little is known about how CO2 affects neural processing of taste. We used functional magnetic resonance imaging to investigate the effects of carbonation on brain processing of sweet stimuli, which has relevance to studies of food selection and satiety. The presence of carbonation produced an overall decrease in the neural processing of sweetness-related signals, especially from sucrose.

A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure.

Fragile X syndrome (FXS) is the main cause of heritable mental retardation. In most patients, it is associated with an increased number of CGG repeats (>200) within the 5'-untranslated region of the FMR1 gene, and with methylation of the expanded repeats and of the promoter. FXS female carriers and transmitting males have expansions of between 55 and 200 repeats (premutated alleles).

The role of a pre-load beverage on gastric volume and food intake: comparison between non-caloric carbonated and non-carbonated beverage.

Background: There is conflicting data on the effects of carbon dioxide contained in beverages on stomach functions. We aimed to verify the effect of a pre-meal administration of a 300 ml non-caloric carbonated beverage (B+CO2) compared to water or a beverage without CO2 (B-CO2), during a solid (SM) and a liquid meal (LM) on: a) gastric volume, b) caloric intake, c) ghrelin and cholecystokinin (CCK) release in healthy subjects.

Methods: After drinking the beverages (Water, B-CO2, B+CO2), ten healthy subjects (4 women, aged 22-30 years; BMI 23 ± 1) were asked to consume either an SM or an LM, at a constant rate (110 kcal/5 min).

Correlation between oesophageal acid exposure and dyspeptic symptoms in patients with nonerosive reflux disease.

Background & Aims: Oesophageal acidification induces dyspeptic symptoms in healthy individuals. This study aimed to evaluate the correlation between oesophageal acid exposure and dyspeptic symptoms in patients with nonerosive reflux disease.

Methods: A total of 68 patients with dominant symptoms of heartburn, negative upper gastrointestinal endoscopy and concomitant dyspeptic symptoms participated in the study.

Almost all irritable bowel syndromes are post-infectious and respond to probiotics: consensus issues.

Several reports have described post-infectious irritable bowel syndrome (Pi-IBS), while many animal and human studies have shown the presence of increased infiltration of inflammatory cells and hyperplasia of enterochromaffin cells in the intestinal mucosa after acute gastroenteritis. The potential value of probiotic bacteria in restoring normal gut function has been demonstrated by animal models of Pi-IBS. In humans, Pi-IBS can be prevented utilizing probiotics to reduce the duration of acute gastroenteritis, despite the variable efficacy shown in randomized control trials evaluating unspecified IBS.

A second generation radiation hybrid map to aid the assembly of the bovine genome sequence.

Background: Several approaches can be used to determine the order of loci on chromosomes and hence develop maps of the genome. However, all mapping approaches are prone to errors either arising from technical deficiencies or lack of statistical support to distinguish between alternative orders of loci. The accuracy of the genome maps could be improved, in principle, if information from different sources was combined to produce integrated maps.