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Is tuberous sclerosis complex-associated autism a preventable andtreatabledisorder?

World Journal of Pediatrics 2024年第1期20卷 40-53页

作者： Paolo Curatolo Mirte scheper Leonardo Emberti Gialloreti Nicola specchio Eleonora Aronica Child Neurology and Psychiatry Unit Systems Medicine DepartmentTor Vergata UniversityRomeItaly Department of Neuropathology Amsterdam NeuroscienceAmsterdam UMC Location University of AmsterdamAmsterdamTheNetherlands Department of Biomedicine and Prevention University of Rome Tor VergataVia Montpellier 100133 RomeItaly Clinical and Experimental Neurology Bambino Gesù Children's HospitalIRCCSFull Member of European ReferenceNetworkEpiCAREPiazza S.Onofrio400165 RomeItaly stichting Epilepsie Instellingen Nederland(sEIN) HeemstedeAmsterdamThe Netherlands

Background Tuberous sclerosis complex(TsC)is a genetic disorder caused by inactivating mutations in the TsCl and TsC2 genes,causing overactivation of the mechanistic(previously referred to as mammalian)target of rapamycin(mTOR)signaling pathway in fetal *** mTOR pathway plays a crucial role in several brain processes leading to TsC-related epilepsy,intellectual disability,and autism spectrum disorder(AsD).Pre-natal or early post-natal diagnosis of TsC is now possible in a growing number of pre-symptomatic *** sources We searched PubMed for peer-reviewed publications published between January 2010 and April 2023 with the terms“tuberous sclerosis",“autism",or“autism spectrum disorder""animal models",“preclinical studies",“neurobiology",and“treatment".Results Prospective studies have highlighted that developmental trajectories in TsC infants who were later diagnosed with AsD already show motor,visual and social communication skills in the first year of life *** genetic,cellular,electroencephalography and magnetic resonance imaging biomarkers can identify pre-symptomatic TsC infants at high risk for having autism and *** Preventing epilepsy or improving therapy for seizures associated with prompt and tailored treatment strategies for autism in a sensitive developmental time window could have the potential to mitigate autistic symptoms in infants with TsC.

关键词： Animal model-Autism spectrum disorders Developmental and epileptic encephalopathy Mechanisms mTOR Risk Tuberos sclerosis complex

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MicroRNAs as controlled systems and controllers in non-alcoholic fatty liver disease

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World Journal of Gastroenterology 2014年第41期20卷 15079-15086页

作者： Nadia Panera Daniela Gnani Annalisa Crudele sara Ceccarelli Valerio Nobili Anna Alisi Hepato-Metabolic Disease Unit "Bambino Gesù" Children’s HospitalIRCCS Liver Research Unit "Bambino Gesù" Children’s HospitalIRCCS

Non-alcoholic fatty liver disease(NAFLD) is a multi-faceted condition including simple steatosis alone or associated with inflammation and ballooning(non-alcoholic steatohepatitis) and eventually *** NAFLD incidence has increased over the last twenty years becoming the most frequent chronic liver disease in industrialized ***,visceral adiposity,insulin resistance,and many other disorders that characterize metabolic syndrome are the major predisposing risk factors for ***,different factors,including genetic background,epigenetic mechanisms and environmental factors,such as diet and physical exercise,contribute to NAFLD development and *** lines of evidence demonstrate that specific microRNAs expression profiles are strongly associated with several pathological conditions including *** NAFLD,microRNA deregulation in response to intrinsic genetic or epigenetic factors or environmental factors contributes to metabolic *** this review we focused on microRNAs role both as controlled and controllers molecules in NAFLD development and/or their eventual value as non-invasive biomarkers of disease.

关键词： Liver steatosis Fibrosis Non-alcoholic fatty liver disease Non-alcoholic steatohepatitis MicroRNAs

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Long-term outcome of pancreatic function following oncological surgery in children:Institutional experience and review of the literature

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World Journal of Clinical Cases 2021年第25期9卷 7340-7349页

作者： Giulia Bolasco Teresa Capriati Chiara Grimaldi Lidia Monti Maria Debora De Pasquale Ippolita Patrizia Patera Marco spada Giuseppe Maggiore Antonella Diamanti Hepatology Gastroenterology and Nutrition Unit“Bambino Gesù”Children’s HospitalIRCCSRome 00165Italy Division of Hepatobiliopancreatic surgery Liver and Kidney Transplantation"Bambino Gesù"Children's HospitalIRCCSRome 00165Italy Radiology Department "Bambino Gesù"Children’s HospitalIRCCSRome 00165Italy Hematology/Oncology Department "Bambino Gesu"Children's HospitalIRCCSRome 00165Italy Endocrinology and Diabetes Unit "Bambino Gesù"Children’s HospitalIRCCSRome 00165Italy

BACKGROUND Pancreatic neoplasms are uncommon in children and in most cases they are benign or have low malignant *** and solid pseudopapillary tumor are the most frequent types in early and late childhood,*** resection,although burdened by severe complications,is the only curative treatment for these *** surgery may result in impaired exocrine and endocrine pancreatic ***,limited data are available on the long-term pediatric pancreatic function following surgical *** To investigate endocrine and exocrine pancreatic function and growth after oncological pancreatic surgery in a pediatric *** A retrospective analysis of all pediatric patients who underwent surgery for pancreatic neoplasm in our Institution from January 31,2002 to the present was *** and exocrine insufficiency,auxological and fat-soluble vitamin status(A,D,E and clotting tests)were assessed at diagnosis and at every follow-up *** insufficiency was defined as steatorrhea with fecal elastase-1stool,while endocrine insufficiency was identified as onset of Diabetes or Impaired Glucose *** was evaluated based on body mass index(BMI)z-score *** sixteen patients(12 girls and 4 boys,mean age 10.7±5.3 years),were *** patients(56%)had a neoplasm in the pancreatic head,4 in the body/tail,2 in the tail and 1 in the *** findings were as follows:solid pseudopapillary tumor in 10 patients(62.5%),insulinoma in 2 patients,neuroendocrine tumor in 2 patients and acinar cell carcinoma in 2 *** most frequent surgery was pancreaticoduodenectomy(50%).Exocrine failure occurred in 4 patients(25%)and endocrine failure in 2 patients(12.5%).Exocrine insufficiency occurred early(within 6 mo after surgery)and endocrine insufficiency later(8 and 10 years after surgery).Mean BMI z-score was 0.36±1.1 at diagnosis and 0.27±0.95 at the last ***

关键词： Pancreatic neoplasms Pancreatic function children Malabsorption Pancreatic failure Growth

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Extrahepatic portal vein thrombosis in children and adolescents:Influence of genetic thrombophilic disorders

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World Journal of Gastroenterology 2010年第48期16卷 6123-6127页

作者： Andrea Pietrobattista Matteo Luciani Juan G Abraldes Manila Candusso simona Pancotti Massimo soldati Lidia Monti Giuliano Torre Valerio Nobili Liver Unit Research InstituteBambino Gesù Children's Hospital Department of Hematology Bambino Gesù Children's Hospital Hepatic Hemodynamic Laboratory Liver UnitHospital ClínicIDIBAPS and CIBERhedUniversity of Barcelona Department of Laboratory Pediatrics Bambino Gesù Children's Hospital Radiology Department Bambino Gesù Children's Hospital

AIM:To explore the prevalence of local and genetic thrombophilic disorders as risk factors for portal vein thrombosis (PVT) in our series,the largest ever published in pediatric literature. METHODs:We conducted a case-control study enrolling 31 children with PVT and 26 age-matched controls. All were screened for thrombophilia,including genetic disorders,protein C,protein s and homocysteine deficiencies. All coagulation parameters were studied at least 3 mo after the diagnosis of portal vein ***:In our study we showed that most pediatric patients with PVT have local prothrombotic risk factors,which are probably the most important factors leading to PVT. However,there is a clear association between the presence of prothrombotic disorders and PVT,suggesting that these increase the risk of thrombosis in patients with local factors such as perinatal umbilical vein catheterization or sepsis. CONCLUsION:Patients with PVT should be screened for inherited prothrombotic disorders regardless of a history of an obvious local risk factor.

关键词： Portal vein thrombosis children Thrombophilic disorders Protein C Protein s

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Toll-like receptor-mediated signaling cascade as a regulator of the inflammation network during alcoholic liver disease

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World Journal of Gastroenterology 2014年第44期20卷 16443-16451页

作者： sara Ceccarelli Valerio Nobili Anna Alisi Hepato-Metabolic Disease Unit and Liver Research Unit Bambino Gesù Children’s Hospital IRCCS

Chronic abuse of alcohol leads to various histological abnormalities in the liver. These are conditions collectively known as alcoholic liver disease(ALD). Currently, ALD is considered to be one of the major causes of death worldwide. An impaired intestinal barrier with related endotoxemia is among the various pathogenetic factors. This is mainly characterized by circulating levels of lipopolysaccharide(LPs), considered critical for the onset of intra-hepatic inflammation. This in turn promotes hepatocellular damage and fibrosis in ALD. Elevated levels of LPs exert their effects by binding to Toll-like receptors(TLRs) which are expressed by all liver-resident cells. The activation of TLR signaling triggers an overproduction and release of some cytokines, which promote an autocatalytic cascade of other proinflammatory signals. In this review, we provide an overview of the mechanisms that sustain LPs-mediated activation of TLR signaling, reporting current experimental and clinical evidence of its role during inflammation in ALD.

关键词： Alcoholic liver disease Toll-like receptors Inflammation Cirrhosis Nuclear factor-κ B Cytokines

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Epigenetic modulators for brain cancer stem cells: Implications for anticancer treatment

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World Journal of stem Cells 2021年第7期13卷 670-684页

作者： Luana Abballe Evelina Miele Department of Pediatric Hematology/Oncology and Cellular and Gene Therapy Bambino GesùChildren's HospitalIRCCSRome 00165Italy

Primary malignant brain tumors are a major cause of morbidity and mortality in both adults and children,with a dismal prognosis despite multimodal therapeutic *** the last years,a specific subpopulation of cells within the tumor bulk,named cancer stem cells(CsCs)or tumor-initiating cells,have been identified in brain tumors as responsible for cancer growth and disease *** features of tumor cells strongly affect treatment response,leading to the escape from conventional therapeutic approaches and subsequently causing tumor *** research efforts have focused at identifying new therapeutic strategies capable of specifically targeting CsCs in cancers by taking into consideration their complex *** epigenetic machinery plays a key role in the genesis and progression of brain tumors as well as inducing CsC reprogramming and preserving CsC ***,reverting the cancer epigenome can be considered a promising therapeutic *** main epigenetic mechanisms have been described:DNA methylation,histone modifications,and non-coding RNA,particularly *** of these mechanisms has been proven to be targetable by chemical compounds,known as epigeneticbased drugs or epidrugs,that specifically target epigenetic *** review here recent advances in the study of epigenetic modulators promoting and sustaining brain tumor stem-like *** focus on their potential role in cancer therapy.

关键词： Cancer stem cells Epigenetics Brain tumors Epigenetic drugs Histone deacetylase inhibitors DNA methyltransferase inhibitors

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Arrhythmic Risk in Paediatric Patients Undergoing surgical Repair for Pulmonary Atresia with Intact Ventricular septum

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Congenital Heart Disease 2021年第1期16卷 85-94页

作者： Pietro Paolo Tamborrino Corrado Di Mambro Cecilia Marcolin Walter Vignaroli Giulia Cafiero Gianluca Brancaccio sonia Albanese Massimo stefano silvetti Adriano Carotti Fabrizio Drago Paediatric Cardiology and Cardiac Arrhythmia Unit Department of Paediatric Cardiology and Cardiac SurgeryBambino GesùChildren’s HospitalIRCCSRomeItaly European Reference Network for Rare and Low Prevalence Complex Disease of the Heart Paediatric Cardiac surgery Unit Department of Paediatric Cardiology and Cardiac SurgeryBambino GesùChildren’s HospitalIRCCSRomeItaly sport Medicine Unit Department of Paediatric Cardiology and Cardiac SurgeryBambino GesùChildren’s HospitalIRCCSRomeItaly

Introduction:While previous studies only focused on the arrhythmic risk associated with specific correction strategies,this study evaluates this risk in a large cohort of paediatric patients with all phenotypes of PA-IVs after surgical ***:In this single centre observational cohort study,we retrospectively evaluated 165 patients with a diagnosis of PA-IVs and we excluded those with an exclusively percutaneous treatment,patients lost or with insufficient follow-up and those affected by other arrhythmic *** history and clinical outcomes were ***:86 patients were included in the study(54 male[62.8%],mean age 16.4±6.1 years),with median follow-up from definitive repair of 12.8 years(6.4–18.9 years).They underwent three different final repairs:23 patients(26.7%)univentricular palliation,43(50%)biventricular correction,and 20(23.3%)one and a half ventricle *** patients(15%)developed arrhythmia:6 patients(all the subgroups)sinus node disfunction(sND);2(biventricular repair)premature ventricular complexes;2(one and a half ventricle repair)non-sustained ventricular tachycardia;1(biventricular repair)intra-atrial re-entrant tachycardia;1(one and a half ventricle repair)supraventricular tachyarrhythmia;1(biventricular repair)atrial *** patients with sND needed a pacemaker *** Fontan circulation showed an association with sND,while the other two groups heterogeneous types of ***:The low arrhythmic risk is related to surgical repair,it does not appear to be associated with native cardiomyopathy,and it appears to increase with length of follow *** follow-up in specialized centres is necessary to make an early diagnosis and to manage the potential haemodynamic impact at medium-long term.

关键词： Pulmonary atresia with intact ventricular septum arrhythmic risk univentricular palliation Fontan circulation biventricular repair one and a half repair

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Pediatric spinal glioblastoma of the conus medullaris:a case report of long survival

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Chinese Journal of Cancer 2016年第6期35卷 69-72页

作者： Antonella Cacchione Angela Mastronuzzi Maria Giuseppina Cefalo Giovanna stefania Colafati Francesca Diomedi-Camassei Michele Rizzi Alessandro De Benedictis Andrea Carai Department of Pediatric Hematology-Oncologybambino gesùchildren’s hospital IRCCSPlazza Sant'Onofrio 400615 RomeItaly Neuroradiology Unit Bambino GesùChildren’s HospitalPlazza Sant'Onofrio 400615 RomeItaly Division of Pathology Bambino GesùChildren’s HospitalPlazza Sant'Onofrino 400615 RomeItaly Department of Neurosurgery Fondazione Istituto Neurologico"Carlo Besta"IRCCSMilanItaly Neurosurgery Unit Department of Neuroscience and NeurorehabilitationBambino GesùChildren’s HospitalPlazza Sant'Onofrio 400615 RomeItaly

High?grade gliomas of the spinal cord represent a rare entity in *** biology,behavior,and controversial treatment options have been discussed in a few pediatric *** tumors are associated with severe disability and poor *** report a case of a 4?year?old child diagnosed with an isolated glioblastoma multiforme of the conus *** patient underwent subtotal surgical excision,followed by adjuvant radiotherapy and oral chem?*** is alive with mild neurologic deficits at 52 months after *** describe the peculiar characteris?tics of this rare condition in pediatric *** also provide an overview of current multidisciplinary therapeutic approaches and prognostic factors for this disease.

关键词： spinal cord cancer Glioblastoma multiforme children Multidisciplinary treatment Prognosis

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New insights into the cell-and tissue-specificity of glucocorticoid actions

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Cellular & Molecular Immunology 2021年第2期18卷 269-278页

作者： Linda Quatrini sophie Ugolini Department of Immunology IRCCS Bambino GesùChildren’s HospitalRomeItaly Aix Marseille Univ CNRSINSERMCentre d’Immunologie de Marseille-LuminyMarseilleFrance

Glucocorticoids(GCs)are endogenous hormones that are crucial for the homeostasis of the organism and adaptation to the external *** of their anti-inflammatory effects,synthetic GCs are also extensively used in clinical ***,almost all cells in the body are sensitive to GC *** a result,these mediators have pleiotropic effects,which may be undesirable or detrimental to human ***,we summarize the recent findings that contribute to deciphering the molecular mechanisms downstream of glucocorticoid receptor *** also discuss the complex role of GCs in infectious diseases such as sepsis and COVID-19,in which the balance between pathogen elimination and protection against excessive inflammation and immunopathology needs to be tightly *** understanding of the cell type-and context-specific actions of GCs from the molecular to the organismal level would help to optimize their therapeutic use.

关键词： Glucocorticoids inflammation immune response

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3D Non-Fluoroscopic Cryoablation of Right-sided Accessory Pathways in children:Monocentric study and Literature Review

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Congenital Heart Disease 2021年第6期16卷 561-572页

作者： Fabrizio Drago Irma Battipaglia Pietro Paolo Tamborrino Luigina Porco Camilla Calvieri Mario salvatore Russo Vincenzo Pazzano Romolo Remoli Massimo stefano silvetti Pediatric Cardiology and Cardiac Arrhythmias Unit Department of Pediatric Cardiology and Cardiac SurgeryBambino GesùChildren’s HospitalIRCCSRomeItaly

Background:Cryoablation of accessory pathways(APs)is effective and very safe in children,as previously reported by our *** aim of this retrospective study was to evaluate the current efficacy of 3D non-fluoroscopic cryoablation of right sided APs in children,comparing results obtained with the Ensite VelocityTM and the more recent Ensite PrecisionTM 3D mapping *** and Results:From January 2016 to December 2019,102 pediatric patients[mean age 12.5±2.8,62 males(61%of total cohort)]with right APs underwent 3D non-fluoroscopic transcatheter cryoablation at our ***(14.7%)patients had previously undergone catheter *** procedural success rate was 95.1%(n=97).No significant differences were detected in acute success rates achieved with Ensite Velocity^(TM)or Ensite PrecisionTM systems nor between manifest(94%)and concealed APs(100%).No permanent complications *** follow-up(428±286 days,median 396 days[interquartile range 179-713]),19 patients(19.6%)had *** were more frequent for parahissian/anterior APs compared to midseptal/posterior and lateral APs(p=0.043).Recurrences were not related to the Ensite system used.A redo ablation procedure was attempted in 13 cases,11 cryoablation and 2 radiofrequency ablations:the former was successful in 10 cases out of 11(90.9%).Conclusion:3D cryoablation of right-sided APs is associated with a very high acute success rate with limited use of fluoroscopy,resulting in great benefit to the *** rates are not high and patients can be retreated with cryo-energy with higher success rates.

关键词： 3D Mapping accessory pathway children cryoablation pediatric tachyarrhythmias

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