Publications by authors named "Federica Ricci"

69 Publications

Enhanced Exciton Quantum Coherence in Single CsPbBr Perovskite Quantum Dots using Femtosecond Two-Photon Near-Field Scanning Optical Microscopy.

ACS Nano 2021 Aug 4. Epub 2021 Aug 4.

Department of Chemistry University of Michigan, Ann Arbor, Michigan 48109, United States.

Cesium-halide perovskite quantum dots (QDs) have gained tremendous interest as quantum emitters in quantum information processing applications due to their optical and photophysical properties. However, engineering excitonic states in quantum dots requires a deep knowledge of the coherent dynamics of their excitons at a single-particle level. Here, we use femtosecond time-resolved two-photon near-field scanning optical microscopy (NSOM) to reveal coherences involving a single cesium lead bromide perovskite QD (CsPbBr) at room temperature. We show that, compared to other nonperovskite nanoparticles, the electronic coherence on a single perovskite QD has a relatively long lifetime of ca. 150 fs, whereas CdSe QDs have exciton coherence times shorter than 75 fs at room temperature. One possible explanation for the longer coherence time observed for the CsPbBr perovskite system is related to the exciton fine structure of these perovskite QDs compared to other nanoparticles. These perovskite QDs exhibit interesting optical properties that differ from those of the traditional QDs including bright triplet exciton states. In fact, due to the small amplitude of the energy gap fluctuations of dipole-allowed triplet states in perovskite QDs, the coherent superposition could be preserved for longer times. Furthermore, single-particle excitation approach implemented in this work allows us to remove effects of heterogeneity that are usually present in ensemble averaging experiments at room temperature. The realization of quantum-mechanical phase-coherence of a charge carrier that can operate at room temperature is an issue of great importance for the potential application of coherent electronic phenomena in electronic and optoelectronic devices. These interesting findings provide further evidence of the great potential of these perovskite QDs as candidates for quantum computing and information processing applications.
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http://dx.doi.org/10.1021/acsnano.1c01615DOI Listing
August 2021

Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome.

J Dev Behav Pediatr 2021 Jul 13. Epub 2021 Jul 13.

Section of Child and Adolescent Neuropsychiatry, Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Turin, Italy; Pediatric Genetics Unit, Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Turin, Italy.

Objective: The objective of this study was to examine psychopathology and its impact on adaptive functioning in a sample of patients affected by Noonan syndrome (NS), a genetically heterogeneous condition with systemic manifestations.

Method: Forty-two subjects affected by NS (23 males and 19 females), aged 5 to 21 years (mean 12.6 ± SD 5.1), were assessed for nonverbal cognitive abilities, with dimensional measures of psychopathology, adaptive functioning, and family quality of life.

Results: The nonverbal intelligence quotient (IQ) mean was 99.4 ± SD 22.2, with 3 subjects (8%, 95% confidence interval [CI], 1.6%-20.9%) showing cognitive impairment (IQ<70). The Parent Child Behavior Checklist (CBCL) total psychopathology score was in the clinical range in 10% of sample and borderline in another 10%. On the Conners' Parent Rating Scales, scores suggestive of attention-deficit/hyperactivity disorder (ADHD) were in the clinical range in 20%. On the autism quotient, autism spectrum disorder symptoms were reported in 10%. Higher scores on the Adaptive Behavioral Assessment System-Second Edition and on the World Health Organization Quality of Life (26 items) were associated with lower problems on the CBCL (r = -0.63, 95% CI, -0.78 to -0.40 and r = -0.48, 95% CI, -0.69 to -0.20, respectively).

Conclusion: Psychopathology was common in patients with NS and negatively correlated with global functioning and family quality of life. Treatable psychopathology, such as ADHD, may constitute a treatment target for improving adaptive functioning.
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http://dx.doi.org/10.1097/DBP.0000000000000991DOI Listing
July 2021

North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.

PLoS One 2021 25;16(6):e0253882. Epub 2021 Jun 25.

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy.

Introduction: The aim of this study was to report 36-month longitudinal changes using the North Star Ambulatory Assessment (NSAA) in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53.

Materials And Methods: We included 101 patients, 34 had deletions amenable to skip exon 44, 25 exon 45, 19 exon 51, and 28 exon 53, not recruited in any ongoing clinical trials. Five patients were counted to skip exon 51 and 53 since they had a single deletion of exon 52.

Results: The difference between subgroups (skip 44, 45, 51 and 53) was significant at 12 (p = 0.043), 24 (p = 0.005) and 36 months (p≤0.001).

Discussion: Mutations amenable to skip exons 53 and 51 had lower baseline values and more negative changes than the other subgroups while those amenable to skip exon 44 had higher scores both at baseline and at follow up.

Conclusion: Our results confirm different progression of disease in subgroups of patients with deletions amenable to skip different exons. This information is relevant as current long term clinical trials are using the NSAA in these subgroups of mutations.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0253882PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8232423PMC
June 2021

Diagnosis and treatment of Chiari malformation type 1 in children: the International Consensus Document.

Neurol Sci 2021 Jun 7. Epub 2021 Jun 7.

Neurosurgery and Pediatric Neurosurgery, Vall d'Hebron Hospital Universitari, Neurotrauma and Neurosurgery Research Unit, and Universitat Autònoma de Barcelona, Barcelona, Spain.

Background: Chiari malformation type 1 (CM1) is a rare condition where agreed classification and treatment are still missing. The goal of this study is to achieve a consensus on the diagnosis and treatment of CM1 in children.

Methods: A multidisciplinary panel formulated 57 provisional statements based on a review of the literature. Thirty-four international experts (IE) participated in a Delphi study by independently rating each statement on a 4-point Likert scale ("strongly disagree," "disagree," "agree," "strongly agree"). Statements that were endorsed ("agree" or "strongly agree") by < 75% of raters were re-formulated, or new statements were added, and another Delphi round followed (up to a maximum of three).

Results: Thirty-five IE were contacted and 34 agreed to participate. A consensus was reached on 30/57 statements (52.6%) after round 1. Three statements were added, and one removed. After round 2, agreement was reached on 56/59 statements (94.9%). Finally, after round 3, which took place during the 2019 Chiari Consensus Conference (Milan, Italy), agreement was reached on 58/59 statements (98.3%) about four main sections (Definition and Classification, Planning, Surgery, Isolated Syringomyelia). Only one statement did not gain a consensus, which is the "definition of radiological failure 24 month post-surgery."

Conclusions: The consensus document consists of 58 statements (24 on diagnosis, 34 on treatment), serving clinicians and researchers following children with CM1. There is a clear need for establishing an international network and registry and to promote collaborative studies to increase the evidence base and optimize the long-term care of this patient population.
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http://dx.doi.org/10.1007/s10072-021-05317-9DOI Listing
June 2021

Impact of the COVID-19 Pandemic on Child and Adolescent Psychiatric Emergencies.

J Clin Psychiatry 2021 04 6;82(3). Epub 2021 Apr 6.

Department of Public Health and Pediatric Sciences, Section of Child and Adolescent Neuropsychiatry, University of Turin, Turin, Italy.

Objective: By forcing closure of schools, curtailing outpatient services, and imposing strict social distancing, the COVID-19 pandemic has abruptly affected the daily life of millions worldwide, with still unclear consequences for mental health. This study aimed to evaluate if and how child and adolescent psychiatric visits to hospital emergency departments (EDs) changed during the pandemic lockdown, which started in Italy on February 24, 2020.

Methods: We examined all ED visits by patients under 18 years of age in the 7 weeks prior to February 24, 2020, and in the subsequent 8 weeks of COVID-19 lockdown at two urban university hospitals, in Turin and Rome, Italy. ED visits during the corresponding periods of 2019 served as a comparison using Poisson regression modeling. The clinician's decision to hospitalize or discharge home the patient after the ED visit was examined as an index of clinical severity.

Results: During the COVID-19 lockdown, there was a 72.0% decrease in the number of all pediatric ED visits (3,395) compared with the corresponding period in 2019 (12,128), with a 46.2% decrease in psychiatric visits (50 vs 93). The mean age of psychiatric patients was higher in the COVID-19 period (15.7 vs 14.1 years). No significant changes were found in hospitalization rate or in the prevalence distribution of the primary reason for the psychiatric ED visit (suicidality, anxiety/mood disorders, agitation).

Conclusions: In the first 8 weeks of the COVID-19-induced social lockdown, the number of child and adolescent psychiatric ED visits significantly decreased, with an increase in patient age. This decrease does not appear to be explained by severity-driven self-selection and might be due to a reduction in psychiatric emergencies or to the implementation of alternative ways of managing acute psychopathology.
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http://dx.doi.org/10.4088/JCP.20m13467DOI Listing
April 2021

What Do We Know about the Long-Term Course of Early Onset Bipolar Disorder? A Review of the Current Evidence.

Brain Sci 2021 Mar 8;11(3). Epub 2021 Mar 8.

Child and Adolescent Neuropsychiatry-Department of Public Health and Pediatric Sciences, Universita' degli Studi di Torino, 10126 Turin, Italy.

Aim: Early onset of psychopathology is often an index of a more severe clinical course and worse prognosis. This review examined the course of bipolar disorder (BD) with onset in childhood and adolescence, with a focus on persistence of symptoms, severity of illness, comorbidity, and functional impairment.

Methods: The databases of PubMed, Embase, and PsycInfo were systematically searched for publications since 1990 reporting on long-term (12 months or longer) assessments of patients with early onset BD.

Results: Forty-two relevant publications were identified, which reported on data derived from 15 different patient cohorts, including 7 prospective research psychopathology studies, 4 medical record reviews, 2 follow-ups of clinical trial samples, 1 managed care database, and 1 nationwide registry, for a total of 10,187 patients. The length of follow-ups ranged from 1.0 to 15 years. Diagnostic stability of BD ranged from 73% to 100% over ten years. Recovery rate from an index episode was 81.5-100% and recurrence rate was 35-67%. Suicide attempt cumulative prevalence in five years was 18-20%. Earlier age at the first episode predicted a more severe clinical course.

Conclusions: Early onset BD persists over time through adolescence, with homotypic diagnostic continuity over the years, but heterogeneity in the severity of the clinical course. Whether early identification and treatment improves distal prognosis remains to be further investigated.
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http://dx.doi.org/10.3390/brainsci11030341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8001096PMC
March 2021

Psychological Impact of the COVID-19 Pandemic on Adults and Their Children in Italy.

Front Psychiatry 2021 12;12:572997. Epub 2021 Mar 12.

Section of Child and Adolescent Neuropsychiatry, Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy.

The coronavirus disease 2019 (COVID-19) pandemic has abruptly changed the life of millions as travel and social contacts have been severely restricted. We assessed the psychological impact of COVID-19 on adults and children, with special attention to health care workers (HCWs). A self-rated online survey, including the Impact of Event Scale-Revised (IES-R) for adults and the Children Revised Impact of Event Scale-Revised-13 items (CRIES-13) for their 8-18-year-old offspring, was conducted in Italy on March 20-26, 2020. Linear mixed-effects models were applied to the data, accounting for age, sex, education, and other demographic characteristics. Data were available from 2,419 adults (78.4% females, mean age 38.1 ± SD 13.1 years; 15.7% HCW) and 786 children (50.1% male, mean age 12.3 ± 3.2 years). Median (IQR) IES-R score was 30.0 (21.0-40.0), corresponding to mild psychological impact, with 33.2% reporting severe psychological impact. IES-R was lower in HCWs (29.0) than non-HCWs (31.0), but HCWs directly involved in COVID-19 care had higher scores [33.0 (26.0-43.2)] than uninvolved HCWs [28.0 (19.0-36.0)]. Median CRIES-13 score was [21.0 (11.0-32.0)], with 30.9% of the children at high risk for post-traumatic stress disorder. Parent and child scores were correlated. Up to 30% of adult and children in the pandemic area are at high risk for post-traumatic stress disturbances. The risk is greater for HCWs directly involved in COVID-19 care and for their children.
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http://dx.doi.org/10.3389/fpsyt.2021.572997DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7994767PMC
March 2021

The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy.

Neuromuscul Disord 2021 Jun 21;31(6):479-488. Epub 2021 Feb 21.

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, Rome 00152, Italy. Electronic address:

The aim was to assess 3-year longitudinal data using 6MWT in 26 ambulant boys affected by DMD carrying nonsense mutations and to compare their results to other small mutations. We also wished to establish, within the nonsense mutations group, patterns of change according to several variables. Patients with nonsense mutations were categorized according to the stop codon type newly created by the mutation and also including the adjacent 5' (upstream) and 3' (downstream) nucleotides. No significant difference was found between nonsense mutations and other small mutations (p > 0.05) on the 6MWT. Within the nonsense mutations group, there was no difference in 6MWT when the patients were subdivided according to: Type of stop codon, frame status of exons involved, protein domain affected. In contrast, there was a difference when the stop codon together with the 3' adjacent nucleotide ("stop+4 model") was considered (p < 0.05) with patients with stop codon TGA and 3' adjacent nucleotide G (TGAG) having a more rapid decline. Our finding suggest that the stop+4 model may help in predicting functional changes. This data will be useful at the time of interpreting the long term follow up of patients treated with Ataluren that are becoming increasingly available.
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http://dx.doi.org/10.1016/j.nmd.2021.02.015DOI Listing
June 2021

A three-year longitudinal study on the use of pre-ordering in a university canteen.

Appetite 2021 08 16;163:105203. Epub 2021 Mar 16.

Piazza Vittorio Emanuele II 9, Pollenzo, 12042, Italy. Electronic address:

Meal pre-planning is considered a cost-effective behavioral strategy that can improve eating habits, reduce food waste and benefit food operators. This work aimed to offer new insights on the use of meal pre-ordering systems, in particular with regard to younger generations' booking habits and their evolution over time. Our data included observations from 946 students who visited a university canteen over the course of three years. We tried to address questions that were not previously explored in a real setting, namely we analyzed how widespread the use of pre-ordering can be, how much in advance and for how many days users plan their meals, whether there exists a compensation effect for those who order in advance and if increased familiarity with this booking system influences its adoption over time. We found that the adoption of pre-ordering was highest among graduate female students (odds ratio 1.67, p <0.001), who also planned their lunches further in advance and for more consecutive days compared to their peers. Our data also suggested that pre-ordering may increase the amount of uncollected orders, a potential source of collateral waste previously not identified in the literature. Although the generalizability of our findings is limited by the unique characteristics of the setting, the results obtained provide novel cues upon which future literature may build.
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http://dx.doi.org/10.1016/j.appet.2021.105203DOI Listing
August 2021

Free Fatty Acids Signature in Human Intestinal Disorders: Significant Association between Butyric Acid and Celiac Disease.

Nutrients 2021 Feb 26;13(3). Epub 2021 Feb 26.

Department of Experimental and Clinical Medicine, University of Florence, 50134 Florence, Italy.

Altered circulating levels of free fatty acids (FFAs), namely short chain fatty acids (SCFAs), medium chain fatty acids (MCFAs), and long chain fatty acids (LCFAs), are associated with metabolic, gastrointestinal, and malignant diseases. Hence, we compared the serum FFA profile of patients with celiac disease (CD), adenomatous polyposis (AP), and colorectal cancer (CRC) to healthy controls (HC). We enrolled 44 patients (19 CRC, 9 AP, 16 CD) and 16 HC. We performed a quantitative FFA evaluation with the gas chromatography-mass spectrometry method (GC-MS), and we performed Dirichlet-multinomial regression in order to highlight disease-specific FFA signature. HC showed a different composition of FFAs than CRC, AP, and CD patients. Furthermore, the partial least squares discriminant analysis (PLS-DA) confirmed perfect overlap between the CRC and AP patients and separation of HC from the diseased groups. The Dirichlet-multinomial regression identified only strong positive association between CD and butyric acid. Moreover, CD patients showed significant interactions with age, BMI, and gender. In addition, among patients with the same age and BMI, being male compared to being female implies a decrease of the CD effect on the (log) prevalence of butyric acid in FFA composition. Our data support GC-MS as a suitable method for the concurrent analysis of circulating SCFAs, MCFAs, and LCFAs in different gastrointestinal diseases. Furthermore, and notably, we suggest for the first time that butyric acid could represent a potential biomarker for CD screening.
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http://dx.doi.org/10.3390/nu13030742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996737PMC
February 2021

Diving into inflammation: a pilot study exploring the dynamics of the immune-microbiota axis in ileal tissue layers of patients with Crohn's disease.

J Crohns Colitis 2021 Feb 21. Epub 2021 Feb 21.

Department of Experimental and Clinical Medicine, University of Firenze, Firenze, Italy.

Background And Aims: Crohn's Disease (CD) pathogenesis is still unclear. Disorders in the mucosal immunoregulation and its crosstalk with the microbiota may represent an important component in tissue injury. We aimed to characterize the molecular immune response distribution within the ileal layers and to evaluate the correlated microbiota in pathological/healthy settings comparing first surgery/relapse clinical conditions.

Methods: We enrolled 12 CD patients. A comprehensive analysis of ileal mucosa, submucosa and serosa broad-spectrum cytokines' panel was performed through a multiplex approach. In addition, ileal microbiota composition was assessed through Next Generation Sequencing.

Results: We observed a distinct profile (of IL1-α, IL-1β, IL-4, IL-8, ICAM-1, E-Selectin, P-Selectin, IP-10, IL 6, and IL 18) across the CD vs healthy ileal layers; and a different distribution of IFN-γ, P-Selectin, IL-27 and IL-21 in first surgery vs relapse patients. In addition, the phylum Tenericutes, the family of Ruminococcaceae, and the genus Mesoplasma and Mycoplasma were significantly enriched in pathological setting. Significant microbiota differences were observed between relapse vs first surgery patients regarding the class Bacteroidia, the genus of Prevotella, Flavobacterium, Tepidimonas and Escherichia/Shigella. Finally, the abundance of the genus Mycoplasma was positively correlated with IL-18.

Conclusions: We describe a dissimilarity of cytokines' distribution and microbiota composition within the CD and the adjacent healthy ileal tissue layers and between first operation and surgical relapse. Our results give a potential insight into the dynamics of the gut microbiota-immune axis in CD patients, leading to new biomarkers' detection.
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http://dx.doi.org/10.1093/ecco-jcc/jjab034DOI Listing
February 2021

SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.

J Pediatr Endocrinol Metab 2021 Feb 19;34(2):261-266. Epub 2020 Nov 19.

Department of Pediatrics, University of Torino, AOU Città della Salute e della Scienza di Torino, Torino, Italy.

Objectives: Biallelic mutations in the SLC25A19 gene impair the function of the thiamine mitochondrial carrier, leading to two distinct clinical phenotypes. Homozygosity for the c.530G > C mutation is invariably associated to Amish lethal microcephaly. The second phenotype, reported only in 8 patients homozygous for different non-Amish mutations (c.373G > A, c.580T > C, c.910G > A, c.869T > A, c.576G > C), is characterized by bilateral striatal necrosis and peripheral polyneuropathy. We report a new patient with the non-Amish SLC25A19 phenotype showing compound heterozygosity for the new variant c.673G > A and the known mutation c.373G > A.

Case Presentation: The natural history of non-Amish SLC25A19 deficiency is characterized by acute episodes of fever-induced encephalopathy accompanied by isolated lactic acidosis and Leigh-like features at magnetic resonance imaging (MRI). Acute episodes are prevented by high-dose thiamine treatment (600 mg/day). As shown in the new case, both mild clinical signs and basal ganglia involvement can precede the acute encephalopathic onset of the disease, potentially allowing treatment anticipation and prevention of acute brain damage. Peripheral axonal neuropathy, observed in 7 out of 9 patients, is not improved by thiamine therapy. In two early treated patients, however, peripheral neuropathy did not occur even on long-term follow-up, suggesting a potential preventive role of treatment anticipation also at the peripheral level.

Conclusions: Non-Amish SLC25A19 deficiency is an extra-rare cause of Leigh syndrome responsive to thiamine treatment. thiamine treatment is mandatory in any patient with Leigh-like features.
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http://dx.doi.org/10.1515/jpem-2020-0139DOI Listing
February 2021

Significant and Conflicting Correlation of IL-9 With and in Human Colorectal Cancer.

Front Immunol 2020 8;11:573158. Epub 2021 Jan 8.

Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy.

Background And Aim: Gut microbiota (GM) can support colorectal cancer (CRC) progression by modulating immune responses through the production of both immunostimulatory and/or immunosuppressive cytokines. The role of IL-9 is paradigmatic because it can either promote tumor progression in hematological malignancies or inhibit tumorigenesis in solid cancers. Therefore, we investigate the microbiota-immunity axis in healthy and tumor mucosa, focusing on the correlation between cytokine profile and GM signature.

Methods: In this observational study, we collected tumor (CRC) and healthy (CRC-S) mucosa samples from 45 CRC patients, who were undergoing surgery in 2018 at the Careggi University Hospital (Florence, Italy). First, we characterized the tissue infiltrating lymphocyte subset profile and the GM composition. Subsequently, we evaluated the CRC and CRC-S molecular inflammatory response and correlated this profile with GM composition, using Dirichlet multinomial regression.

Results: CRC samples displayed higher percentages of Th17, Th2, and Tregs. Moreover, CRC tissues showed significantly higher levels of MIP-1α, IL-1α, IL-1β, IL-2, IP-10, IL-6, IL-8, IL-17A, IFN-γ, TNF-α, MCP-1, P-selectin, and IL-9. Compared to CRC-S, CRC samples also showed significantly higher levels of the following genera: , , , , and . Finally, the abundance of spp. in CRC samples negatively correlated with IL-17A and positively with IL-9. On the contrary, spp. presence negatively correlated with IL-9.

Conclusions: Our data consolidate antitumor immunity impairment and the presence of a distinct microbiota profile in the tumor microenvironment compared with the healthy mucosa counterpart. Relating the CRC cytokine profile with GM composition, we confirm the presence of bidirectional crosstalk between the immune response and the host's commensal microorganisms. Indeed, we document, for the first time, that spp. and spp. are, respectively, positively and negatively correlated with IL-9, whose role in CRC development is still under debate.
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http://dx.doi.org/10.3389/fimmu.2020.573158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820867PMC
June 2021

Myeloid neoplasms and autoimmune diseases: markers of association.

Clin Exp Rheumatol 2021 Jan 6. Epub 2021 Jan 6.

Department of Clinical and Experimental Medicine, University of Pisa, Italy.

Objectives: To investigate the prognostic significance of concomitant autoimmune diseases (ADs) in myeloproliferative neoplasms (MPNs).

Methods: 435 subjects with a diagnosis of MPNs were included in this observational single institution longitudinal study. Of them, 34 patients presented an overt AD at diagnosis of MPN. Clinical presenting features, progression-free and overall survival were compared between MPN subgroups in relation to co-existence of AD at diagnosis of MPN.

Results: Compared to cases without ADs, the subjects with ADs were significantly younger, had lower haemoglobin and haematocrit levels and more frequently presented with splenomegaly. The clinical and biological features associated to progression-free and overall survival were: age, presence of splenomegaly, histotype (MF vs. PV vs. ET), anaemia, high platelet count and presence of any AD at diagnosis of MPN. The age-adjusted hazard ratio (HR) of progression for the presence of AD at diagnosis of MPN was 2.76. Overall survival was not significantly associated to AD at diagnosis, but the HR of progression for the presence of AD at diagnosis of MPN was 2.18.

Conclusions: A possible common genetic predisposition, the inflammatory bone marrow microenvironment and the activation of theJAK/STAT pathway could be considered as responsible for the observed association between MPNs and ADs.
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January 2021

12-Month progression of motor and functional outcomes in congenital myotonic dystrophy.

Muscle Nerve 2021 03 10;63(3):384-391. Epub 2021 Jan 10.

Department of Neurology, Virginia Commonwealth University Health, Richmond, Virginia, USA.

Background: We aim to describe 12-mo functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM).

Methods: CDM participants performed the 6 Minute Walk Test (6MWT), 10 Meter Run, 4 Stair Climb, Grip Strength, and Lip Force at baseline and 12-mo visits. Parents completed the Vineland Adaptive Behavior Scale.

Results: Forty-seven participants, aged 0 to 13 y old, with CDM were enrolled. 6MWT, 10 Meter Run, and 4 Stair Climb were completed in >85% of eligible participants. The only significant difference between mean baseline and 12-mo performance was an improvement in 6MWT in children 3-6 y old (P = .008). This age group also had the largest mean % improvement in performance in all other timed functional testing. In children >7 y, the slope of change on timed functional tests decreased or plateaued, with further reductions in performance in children ≥10 y. Participants with CTG repeat lengths <500 did not perform differently than those with repeat lengths >1000.

Conclusions: The 6MWT, 10 Meter Run, and 4 Stair Climb were the most feasible measures. Our findings are consistent with the clinical profile and prior cross-sectional data, helping to establish reasonable expectations of functional trajectories in this population as well as identifying points in which therapeutic interventions may be best studied. Further study of outcomes in children >10 y old and <3 y is warranted, but this new information will assist planning of clinical trials in the CDM population.
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http://dx.doi.org/10.1002/mus.27147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8038871PMC
March 2021

Autism Spectrum Disorder and Disruptive Behavior Disorders Comorbidities Delineate Clinical Phenotypes in Attention-Deficit Hyperactivity Disorder: Novel Insights from the Assessment of Psychopathological and Neuropsychological Profiles.

J Clin Med 2020 Nov 26;9(12). Epub 2020 Nov 26.

IRCCS Stella Maris, Scientific Institute of Child Neurology and Psychiatry, Calambrone, 56128 Pisa, Italy.

Although childhood-onset psychiatric disorders are often considered as distinct and separate from each other, they frequently co-occur, with partial overlapping symptomatology. Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) commonly co-occur with each other and with other mental disorders, particularly disruptive behavior disorders, oppositional defiant disorder/conduct disorder (ODD/CD). Whether these associated comorbidities represent a spectrum of distinct clinical phenotypes is matter of research. The aim of our study was to describe the clinical phenotypes of youths with ADHD with and without ASD and/or ODD/CD, based on neuropsychological and psychopathological variables. One-hundred fifty-one participants with ADHD were prospectively recruited and assigned to four clinical groups, and assessed by means of parent-reported questionnaires, the child behavior checklist and the behavior rating inventory of executive functions. The ADHD alone group presented a greater impairment in metacognitive executive functions, ADHD+ASD patients presented higher internalizing problems and deficits in Shifting tasks, and ADHD+ODD/CD subjects presented emotional-behavioral dysregulation. Moreover, ADHD+ASD+ODD/CD individuals exhibited greater internalizing and externalizing problems, and specific neuropsychological impairments in the domains of emotional regulation. Our study supports the need to implement the evaluation of the psychopathological and neuropsychological functioning profiles, and to characterize specific endophenotypes for a finely customized establishment of treatment strategies.
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http://dx.doi.org/10.3390/jcm9123839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7760262PMC
November 2020

Where have the children with epilepsy gone? An observational study of seizure-related accesses to emergency department at the time of COVID-19.

Seizure 2020 Dec 5;83:38-40. Epub 2020 Oct 5.

Department of Public Health and Pediatric Sciences, Section of Child and Adolescent Neuropsychiatry, University of Turin, Piazza Polonia 94, 10100, Turin, Italy.

Purpose: The COVID-19 pandemic and related lockdown measures drastically changed health care and emergency services utilization. This study evaluated trends in emergency department (ED) access for seizure-related reasons in the first 8 weeks of lockdown in Italy.

Methods: All ED accesses of children (<14 years of age) at two university hospitals, in Turin and Rome, Italy, between January 6, 2020 and April 21, 2020, were examined and compared with the corresponding periods of 2019.

Results: During the COVID-19 lockdown period (February 23-April 21, 2020), there was a 72 % decrease in all pediatric ED accesses over the corresponding 2019 period (n = 3,395 vs n = 12,128), with a 38 % decrease in seizure-related accesses (n = 41 vs n = 66). The observed decrease of seizure-related ED accesses was not accompanied by significant changes in age, sex, type of seizure, or hospitalization rate after the ED visit.

Conclusion: The COVID-19 lockdown was accompanied by a sudden decrease in seizure-related hospital emergency visits. School closure, social distancing, reduced risk of infection, and increased parental supervision are some of the factors that might have contributed to the finding.
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http://dx.doi.org/10.1016/j.seizure.2020.09.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7534601PMC
December 2020

Tyrosine Kinase Inhibitors Play an Antiviral Action in Patients Affected by Chronic Myeloid Leukemia: A Possible Model Supporting Their Use in the Fight Against SARS-CoV-2.

Front Oncol 2020 2;10:1428. Epub 2020 Sep 2.

Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.

SARS-CoV-2 is the viral agent responsible for the pandemic that in the first months of 2020 caused about 400,000 deaths. Among compounds proposed to fight the SARS-CoV-2-related disease (COVID-19), tyrosine kinase inhibitors (TKIs), already effective in Philadelphia-positive acute lymphoblastic leukemia (Ph+ ALL) and chronic myeloid leukemia (CML), have been proposed on the basis of their antiviral action already demonstrated against SARS-CoV-1. Very few cases of COVID-19 have been reported in Ph+ ALL and in CML Italian cohorts; authors suggested that this low rate of infections might depend on the use of TKIs, but the biological causes of this phenomenon remain unknown. In this study, the CML model was used to test if TKIs would sustain or not the viral replication and if they could damage patient immunity. Firstly, the infection and replication rate of torquetenovirus (TTV), whose load is inversely proportional to the host immunological control, have been measured in CML patients receiving nilotinib. A very low percentage of subjects were infected at baseline, and TTV did not replicate or at least showed a low replication rate during the follow-up, with a mean load comparable to the measured one in healthy subjects. Then, after gene expression profiling experiments, we found that several "antiviral" genes, such as and , were upregulated, while genes with "proviral" action, such as , and , were less expressed during treatment with imatinib, thus demonstrating that TKIs are not detrimental from the immunological point of view. To sum up, our data could offer some biological explanations to the low COVID-19 occurrence in Ph+ ALL and CML patients and sustain the use of TKIs in COVID-19, as already proposed by several international ongoing studies.
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http://dx.doi.org/10.3389/fonc.2020.01428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7493657PMC
September 2020

The Italian consensus conference on the role of rehabilitation for children and adolescents with leukemia, central nervous system, and bone tumors, part 1: Review of the conference and presentation of consensus statements on rehabilitative evaluation of motor aspects.

Pediatr Blood Cancer 2020 12 17;67(12):e28681. Epub 2020 Sep 17.

Pediatric Oncohematology, Stem Cell Transplantation and Cell Therapy Division, A.O.U. Città della Salute e della Scienza-Regina Margherita Children's Hospital, Turin, Italy.

Because of increasing survival rates in pediatric oncology, attention is focusing on cancer and its treatment-related side effects. Rehabilitation may reduce their impact. However, the literature does not provide strong evidence regarding rehabilitation pathways. Therefore, the Italian Association of Pediatric Hematology and Oncology organized a consensus conference on the role of rehabilitation of motor impairments in children/adolescents affected by leukemia, central nervous system, and bone tumors to define recommendations for daily practice. The grading of recommendation assessment, developing and evaluation (GRADE) method was used in order to formulate questions, select outcomes, evaluate evidence, and create recommendations. This paper includes the results on the rehabilitation assessment.
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http://dx.doi.org/10.1002/pbc.28681DOI Listing
December 2020

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.

Acta Myol 2020 Jun 1;39(2):57-66. Epub 2020 Jun 1.

Child and Adolescent Unit, IRCCS Mondino Foundation, Pavia, Italy.

Introduction: Since February 2020, the outbreak of COVID-19 in Italy has forced the health care system to undergo profound rearrangements in its services and facilities, especially in the worst-hit areas in Northern Italy. In this setting, inpatient and outpatient services had to rethink and reorganize their activities to meet the needs of patients during the "lockdown". The Italian Association of Myology developed a survey to estimate the impact of these changes on patients affected by neuromuscular disorders and on specialized neuromuscular centers during the acute phase of COVID-19 pandemic.

Methods: We developed an electronic survey that was sent to neuromuscular centers affiliated with the Italian Association of Myology, assessing changes in pharmacological therapies provision, outpatient clinical and instrumental services, support services (physiotherapy, nursing care, psychological support) and clinical trials.

Results: 40% of surveyed neuromuscular centers reported a reduction in outpatient visit and examinations (44.5% of centers in Northern regions; 25% of centers in Central regions; 50% of centers in Southern regions). Twenty-two% of centers postponed in-hospital administration of therapies for neuromuscular diseases (23.4% in Northern regions; 13.0% in Central regions; 20% in Southern regions). Diagnostic and support services (physiotherapy, nursing care, psychological support) were suspended in 57% of centers (66/43/44% in Northern, Central and Southern centers respectively) Overall, the most affected services were rehabilitative services and on-site outpatient visits, which were suspended in 93% of centers. Strategies adopted by neuromuscular centers to overcome these changes included maintaining urgent on-site visits, addressing patients to available services and promoting remote contact and telemedicine.

Conclusions: Overall, COVID-19 pandemic resulted in a significant disruption of clinical and support services for patients with neuromuscular diseases. Despite the efforts to provide telemedicine consults to patients, this option could be promoted and improved further. A close collaboration between the different neuromuscular centers and service providers as well as further implementation of telehealth platforms are necessary to ensure quality care to NMD patients in the near future and in case of recurrent pandemic waves.
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http://dx.doi.org/10.36185/2532-1900-008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460733PMC
June 2020

Organ Stiffness in the Work-Up of Myelofibrosis and Philadelphia-Negative Chronic Myeloproliferative Neoplasms.

J Clin Med 2020 Jul 8;9(7). Epub 2020 Jul 8.

Department of Clinical and Experimental Medicine, UO Haematology, Azienda Ospedaliero-Universitaria Pisana, 56127 Pisa, Italy.

To define the role of spleen stiffness (SS) and liver stiffness (LS) in myelofibrosis and other Philadelphia (Ph)-negative myeloproliferative neoplasms (MPNs), we studied, by ultrasonography (US) and elastography (ES), 70 consecutive patients with myelofibrosis (MF) (no.43), essential thrombocythemia (ET) (no.10), and polycythemia vera (PV) (no.17). Overall, the median SS was not different between patients with MF and PV ( = 0.9); however, both MF and PV groups had significantly higher SS than the ET group ( = 0.011 and = 0.035, respectively) and healthy controls ( < 0.0001 and = 0.002, respectively). In patients with MF, SS values above 40 kPa were significantly associated with worse progression-free survival (PFS) ( = 0.012; HR = 3.2). SS also correlated with the extension of bone marrow fibrosis (BMF) ( < 0.0001). SS was higher in advanced fibrotic stages MF-2, MF-3 (W.H.O. criteria) than in pre-fibrotic/early fibrotic stages (MF-0, MF-1) ( < 0.0001) and PFS was significantly different in the two cohorts, with values of 63% and 85%, respectively ( = 0.038; HR = 2.61). LS significantly differed between the patient cohort with MF and healthy controls ( = 0.001), but not between the patient cohorts with ET and PV and healthy controls ( = 0.999 and = 0.101, respectively). We can conclude that organ stiffness adds valuable information to the clinical work-up of MPNs and could be employed to define patients at a higher risk of progression.
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http://dx.doi.org/10.3390/jcm9072149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408647PMC
July 2020

A Structurally Simple Vaccine Candidate Reduces Progression and Dissemination of Triple-Negative Breast Cancer.

iScience 2020 Jun 6;23(6):101250. Epub 2020 Jun 6.

Department of Chemistry, University of Florence, via della Lastruccia, 3-13, 50019 Sesto Fiorentino (FI), Italy. Electronic address:

The Tn antigen is a well-known tumor-associated carbohydrate determinant, often incorporated in glycopeptides to develop cancer vaccines. Herein, four copies of a conformationally constrained mimetic of the antigen TnThr (GalNAc-Thr) were conjugated to the adjuvant CRM197, a protein licensed for human use. The resulting vaccine candidate, mime[4]CRM elicited a robust immune response in a triple-negative breast cancer mouse model, correlated with high frequency of CD4+ T cells and low frequency of M2-type macrophages, which reduces tumor progression and lung metastasis growth. Mime[4]CRM-mediated activation of human dendritic cells is reported, and the proliferation of mime[4]CRM-specific T cells, in cancer tissue and peripheral blood of patients with breast cancer, is demonstrated. The locked conformation of the TnThr mimetic and a proper presentation on the surface of CRM197 may explain the binding of the conjugate to the anti-Tn antibody Tn218 and its efficacy to fight cancer cells in mice.
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http://dx.doi.org/10.1016/j.isci.2020.101250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322362PMC
June 2020

The CoV-2 outbreak: how hematologists could help to fight Covid-19.

Pharmacol Res 2020 07 6;157:104866. Epub 2020 May 6.

Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

COVID-19 is a medical emergency, with 20 % of patients presenting with severe clinical manifestations. From the pathogenetic point of view, COVID-19 mimics two other well-known diseases characterized by cytokine storm and hyper-activation of the immune response, with consequent organ damage: acute graft-versus-host disease (aGVHD) and macrophage activation syndrome (MAS). Hematologists are confident with these situations requiring a prompt therapeutic approach for switching off the uncontrolled cytokine release; here, we discuss pros and cons of drugs that are already employed in hematology in the light of their possible application in COVID-19. The most promising drugs might be: Ruxolitinib, a JAK1/2 inhibitor, with a rapid and powerful anti-cytokine effect, tyrosine kinase inhibitors (TKIs), with their good anti-inflammatory properties, and perhaps the anti-Cd26 antibody Begelomab. We also present immunological data from gene expression experiments where TKIs resulted effective anti-inflammatory and pro-immune drugs. A possible combined treatment algorithm for COVID-19 is here proposed.
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http://dx.doi.org/10.1016/j.phrs.2020.104866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202852PMC
July 2020

Erythropoietin treatment in chronic phase chronic myeloid leukemia patients treated with frontline imatinib who developed late anemia.

Eur J Haematol 2020 Sep 22;105(3):286-291. Epub 2020 May 22.

Department of Translational and Precision Medicine, University "La Sapienza" of Rome, Rome, Italy.

Background: Role of erythropoietin (EPO) in the treatment of late anemia in patients with Chronic Myeloid Leukemia (CML) is still undefined.

Methods: Fifty CML patients treated at 14 institutions with frontline imatinib for at least 12 months and in stable complete cytogenetic response who developed a late chronic anemia treated with EPO were retrospectively evaluated.

Results: Median time from imatinib start to EPO treatment was 42.2 months [interquartile range (IQR) 20.8-91.9]. Median Hb value at EPO starting time was 9.9 g/dL (IQR 8.9-10.3): Eleven patients (22.0%) were transfusion dependent. Alpha-EPO (40 000 UI weekly) was employed in 37 patients, beta-EPO (30 000 UI weekly) in 9 patients, zeta-EPO (40 000 UI weekly) in 2 patients, and darbepoetin (150 mcg/weekly) in the remaining 2 patients. On the whole, 41 patients (82.0%) achieved an erythroid response, defined as a stable (>3 months) improvement >1.5 g/dL of Hb level, and 9 patients (18.0%) indeed resulted resistant. Among responding patients, 10 relapsed after a median time from EPO start of 20.7 months (IQR 10.8-63.7). No EPO-related toxicity was observed.

Conclusions: Results of EPO treatment for late chronic anemia during long-lasting imatinib therapy are encouraging, with a high rate of response.
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http://dx.doi.org/10.1111/ejh.13436DOI Listing
September 2020

FETR-ALS Study Protocol: A Randomized Clinical Trial of Fecal Microbiota Transplantation in Amyotrophic Lateral Sclerosis.

Front Neurol 2019 20;10:1021. Epub 2019 Sep 20.

Instituto di Microbiologia, Università Cattolica del Sacro Cuore, Rome, Italy.

Among the key players in the pathogenesis of Amyotrophic Lateral Sclerosis (ALS), microglia and T regulatory lymphocytes (Treg) are candidate cells for modifying the course of the disease. The gut microbiota (GM) acts by shaping immune tolerance and regulating the Treg number and suppressive function, besides circulating neuropeptides, and other immune cells that play in concert through the gut-brain axis. Previous mouse models have shown an altered enteric flora in early stage ALS, pointing to a possible GM role in ALS pathogenesis. Fecal Microbial Transplantation (FMT) is a well-known therapeutic intervention used to re-establish the proper microenvironment and to modulate enteric and systemic immunity. We are going to perform a multicenter randomized double-blind clinical trial employing FMT as a therapeutic intervention for ALS patients (NCT0376632). Forty-two ALS patients, at an early stage, will be enrolled with a 2:1 allocation ratio (28 FMT-treated patients vs. 14 controls). Study duration will be 12 months per patient. Three endoscopic procedures for intestinal biopsies in FMT and control groups are predicted at baseline, month 6 and month 12; at baseline and at month 6 fresh feces from healthy donors will be infused at patients in the intervention arm. The primary outcome is a significant change in Treg number between FMT-treated patients and control arm from baseline to month 6. Secondary outcomes include specific biological aims, involving in-depth analysis of immune cells and inflammatory status changes, central and peripheral biomarkers of ALS, besides comprehensive analysis of the gut, saliva and fecal microbiota. Other secondary aims include validated clinical outcomes of ALS (survival, forced vital capacity, and modifications in ALSFRS-R), besides safety and quality of life. We await FMT to increase Treg number and suppressive functionality, switching the immune system surrounding motorneurons to an anti-inflammatory, neuroprotective status. Extensive analysis on immune cell populations, cytokines levels, and microbiota (gut, fecal and saliva) will shed light on early processes possibly leading the degenerative ALS course. This is the first trial with FMT as a potential intervention to modify immunological response to ALS and disease progression at an early stage.
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http://dx.doi.org/10.3389/fneur.2019.01021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763586PMC
September 2019

Effect of Probiotics on Oral Candidiasis: A Systematic Review and Meta-Analysis.

Nutrients 2019 Oct 14;11(10). Epub 2019 Oct 14.

Department of Experimental and Clinical Medicine, University of Florence, 50134 Florence, Italy.

Oral candidiasis (OC) is an increasing health problem due to the introduction of new drugs, population aging, and increasing prevalence of chronic illness. This study systematically reviews the effects of the oral intake of probiotics, prebiotics, and synbiotics on spp. counts (colony-forming units (CFU)/mL) in oral and palatal samples. A literature search was conducted. Twelve studies, eight randomized clinical trials (RCTs), and four pre-post studies, resulted as eligible for the meta-analysis, which was performed through a Bayesian random-effects model. All studies analyzed probiotics, and none of them analyzed prebiotics or synbiotics. The treatments effects were measured in terms of odds ratio (OR) of OC (CFU/mL >10, 10, or 10). The meta-analytic OR was 0.71 (95% credibility interval (CrI): 0.37, 1.32), indicating a beneficial effect of treatment; the index was 56.3%. Focusing only on RCTs, the OR was larger and more precise at 0.53 (95% CrI: 0.27, 0.93). The effect of treatment appeared to be larger on denture wearers. Our findings indicate that the intake of probiotics can have a beneficial effect on OC and that the effects could vary according to the patients' characteristics. Due to the presence of medium-high-risk studies, the results should be interpreted with caution.
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http://dx.doi.org/10.3390/nu11102449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6836010PMC
October 2019

Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach.

Neuromuscul Disord 2019 10 23;29(10):742-746. Epub 2019 Aug 23.

Department of Neuroscience "Rita Levi Montalcini, University of Turin, Via Cherasco 15, 10126, Turin, Italy. Electronic address:

Spinal deformities and surgical correction of scoliosis can make intrathecal delivery of nusinersen very challenging. We aim to evaluate the feasibility and safety of intrathecal administration of nusinersen either via interlaminar or transforaminal approach in a cohort of adult and adolescent patients with spinal muscular atrophy (SMA). Twelve patients were treated with nusinersen in our center under CT-guidance; after a CT scan of the lumbar column, we identified a safe virtual trajectory for the needle and defined patients to address to the transforaminal approach (seven patients) or the interlaminar approach (five patients). Out of 47 procedures, all injections but one were successful. There was one adverse event (post-lumbar puncture syndrome) in the interlaminar approach group (out of 20 procedures) and four adverse events in TFA group (out of 27 procedures) including one serious adverse event, a subarachnoid hemorrhage that required hospitalization. Transforaminal approach can be considered an effective option for nusinersen administration but potentially associated with serious complications, therefore it should be recommended in very selected patients.
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http://dx.doi.org/10.1016/j.nmd.2019.08.007DOI Listing
October 2019

Evaluation and comparison of short chain fatty acids composition in gut diseases.

World J Gastroenterol 2019 Sep;25(36):5543-5558

Department of Experimental and Clinical Medicine, University of Florence, Florence 50134, Italy.

Background: An altered (dysbiosis) and unhealthy status of the gut microbiota is usually responsible for a reduction of short chain fatty acids (SCFAs) concentration. SCFAs obtained from the carbohydrate fermentation processes are crucial in maintaining gut homeostasis and their determination in stool samples could provide a faster, reliable and cheaper method to highlight the presence of an intestinal dysbiosis and a biomarker for various gut diseases. We hypothesize that different intestinal diseases, such as celiac disease (CD), adenomatous polyposis (AP) and colorectal cancer (CRC) could display a particular fecal SCFAs' signature.

Aim: To compare the fecal SCFAs' profiles of CD, AP, CRC patients and healthy controls, using the same analytical method.

Methods: In this cross-sectional study, we defined and compared the SCFAs' concentration in fecal samples of 9 AP, 16 CD, 19 CRC patients and 16 healthy controls (HC). The SCFAs' analysis were performed using a gas-chromatography coupled with mass spectrometry method. Data analysis was carried out using Wilcoxon rank-sum test to assess pairwise differences of SCFAs' profiles, partial least squares-discriminate analysis (PLS-DA) to determine the status membership based on distinct SCFAs' profiles, and Dirichlet regression to determine factors influencing concentration levels of SCFAs.

Results: We have not observed any difference in the SCFAs' amount and composition between CD and healthy control. On the contrary, the total amount of SCFAs was significantly lower in CRC patients compared to HC ( = 0.044) and CD ( = 0.005). Moreover, the SCFAs' percentage composition was different in CRC and AP compared to HC. In detail, HC displayed higher percentage of acetic acid ( value = 1.3 × 10) and a lower amount of butyric ( value = 0.02192), isobutyric ( value = 7.4 × 10), isovaleric ( value = 0.00012) and valeric ( value = 0.00014) acids compared to CRC patients. AP showed a lower abundance of acetic acid ( value = 0.00062) and higher percentages of propionic ( value = 0.00433) and isovaleric ( value = 0.00433) acids compared to HC. Moreover, AP showed higher levels of propionic acid ( value = 0.03251) and a lower level of isobutyric acid ( value = 0.00427) in comparison to CRC. The PLS-DA model demonstrated a significant separation of CRC and AP groups from HC, although some degree of overlap was observed between CRC and AP.

Conclusion: Analysis of fecal SCFAs shows the potential to provide a non-invasive means of diagnosis to detect patients with CRC and AP, while CD patients cannot be discriminated from healthy subjects.
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http://dx.doi.org/10.3748/wjg.v25.i36.5543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6767983PMC
September 2019

A new frontier of pediatric oncology rehabilitation: Establishment of a dedicated working-group within the Italian Association of Pediatric Hematology and Oncology.

J Pediatr Rehabil Med 2019 ;12(3):271-277

Pediatric Oncohematology, Stem Cell Transplantation and Cell Therapy Division, A.O.U. Città della Salute e della Scienza, Regina Margherita Children's Hospital, Turin, Italy.

Purpose: In Italy, most children and adolescents affected by oncological diseases are treated in one of the centers within the Italian Association of Pediatric Hematology and Oncology (AIEOP). AIEOP relies on groups of experts; each of them develops interventions in their specific field of expertise to improve the diagnostic, therapeutic, and assistance pathway of patients and families. Although rehabilitation is an important field in pediatric oncology, until recently there was no working group dedicated to it. This study intends to show the steps that led to the creation of the rehabilitation working group in AIEOP.

Methods: First of all, a survey to identify the various rehabilitation approaches applied throughout Italian centers was sent via email to 39 AIEOP centers that provide rehabilitation.

Results: Answers received from 31 centers showed a lack of homogeneity in rehabilitation methods in terms of type of treatment, number of patients, and outcome measurement.

Conclusions: Some results of the survey were chosen as basic criteria of clinical best practice on which to build the first rehabilitation working-group at the national level to be proposed to the AIEOP commission.
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http://dx.doi.org/10.3233/PRM-180573DOI Listing
June 2020
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