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High-resolution computed tomography findings in humoral primary immunodeficiencies and correlation with pulmonary function tests

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World Journal of Radiology 2018年第11期10卷 172-183页

作者： Lorenzo Cereser Marco De Carli Paola d'Angelo Elisa Zanelli Chiara Zuiani Rossano Girometti Institute of Radiology Department of Medicine University of Udine Azienda Sanitaria Universitaria Integrata di Udine second Unit of Internal Medicine Azienda Sanitaria Universitaria Integrata di Udine Department of Imaging Bambino Gesù Chlidren's Hospital IRCCS

AIM To compare high-resolution computed tomography(HRCT) findings between humoral primary immunodeficiencies(hPIDs) subtypes; to correlate these findings to pulmonary function tests(PFTs).METHODs We retrospectively identified 52 consecutive adult patients with hPIDs who underwent 64-row HRCT and PFTs at the time of diagnosis. On a per-patient basis, an experienced radiologist recorded airway abnormalities(bronchiectasis,airway wall thickening, mucus plugging, tree-in-bud, and air-trapping) and parenchymal-interstitial abnormalities(consolidations, ground-glass opacities,linear and/or irregular opacities, nodules, and bullae/cysts) found on *** chi-square test was performed to compare the prevalence of each abnormality among patients with different subtypes of hPIDs. Overall logistic regression analysis was performed to assess whether HRCT findings predicted obstructive and/or restrictive PFTs results(absent-to-mild vs moderate-tosevere).REsULTs Thirty-eight of the 52 patients with hPIDs showed common variable immunodeficiency disorders(CVID), while the remaining 14 had CVID-like conditions(i.e., 11 had isolated IgG subclass deficiencies and 3 had selective IgA deficiencies). The prevalence of most HRCT abnormalities was not significantly different between CVID and CVID-like patients(P > 0.05), except for linear and/or irregular opacities(prevalence of 31.6% in the CVID group and 0 in the CVID-like group; P = 0.0427). Airway wall thickening was the most frequent HRCT abnormality found in both CVID and CVID-like patients(71% of cases in both groups). The presence of tree-in-bud abnormalities was an independent predictor of moderate-to-severe obstructive defects at PFTs(Odds Ratio, OR, of 18.75, P sence of linear and/or irregular opacities was an independent predictor of restrictive defects at PFTs(OR = 13.00; P sION CVID and CVID-like patients showed similar HRCT findings. Tree-in-bud and linear and/or irregular opacities predi

关键词： Bronchiectasis Multidetector computed tomography Common variable immunodeficiency Immunologic deficiency syndromes Respiratory function tests

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ConservativeapproachinPeutz-Jegherssyndrome:single-balloon enteroscopyandsmallbowelpolypectomy

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World Journal of Gastrointestinal Endoscopy 2014年第7期6卷 318-323页

作者： Torroni F Romeo E Rea F De Angelis P Foschia F Faraci s Federici di Abriola G Contini AC Caldaro T Dall’Oglio L Filippo Torroni Erminia Romeo Francesca Rea Paola De Angelis Francesca Foschia Simona Faraci Giovanni Federici di Abriola Anna Chiara Contini Tamara Caldaro Luigi Dall’Oglio Department of Surgery and Transplantation Digestive Surgery and Endoscopy Unit Bambino Gesù Children’s Hospital IRCCS 00165 Rome Italy

AIM: To assess the usefulness of the balloon assisted enteroscopy in preventing surgical intervention in pa-tients with Peutz-Jeghers syndrome (PJs) having a small bowel large polyps. METHODs: seven consecutive asymptomatic pts(age 15-38 years) with PJs have been collected; six under-went polypectomy using single balloon enteroscopy(Olympus sIF Q180) with antegrade approach using push and pull technique. sBE system consists of the sIF-Q180 enteroscope, an overtube balloon control unit(OBCU Olympus Balloon Control Unit) and a dispos-able silicone splinting tube with balloon(sT-sB1). All procedures were performed under general anesthesia. Previously all pts received wireless capsule endos-copy(WCE). Prophylactic polypectomy was reservedmainly in pts who had polyps > 15 mm in diameter. The balloon is inflated and deflated by a balloon control unit with a safety pressure setting range from-6.0 kPa to +5.4 kPa. Informed consent has been obtained from pts or parents for each ***: six pts underwent polypectomy of small bowel polyps; in 5 pts a large polyp > 15 mm(range 20-50 mm in diameter) was resected; in 1 patient with WCE negative, sBE was performed for previous surgi-cal resection of gastrointestinal stromal tumors. In 2 pts endoscopic clips were placed due to a polypectomy. No surgical complication have been reported. sBE with resection of small bowel large polyps in PJs pts was useful to avoid gastrointestinal bleeding and emergency laparotomy due to intestinal intussuscep-tions. No gastrointestinal tumors were found in sub-sequent enteroscopic surveillance in all seven pts. In order surveillance, all pts received WCE, upper en-doscopy, ileocolonoscopy every 2 years. No pts had extraintestinal malignant lesions. sBE was performed when WCE was positive for significant polyps(> 15 mm).CONCLUsION: The effective of prophylactic polyp-ectomy of small bowel large polyps(> 15 mm) could be the first line treatment for conservative approach in management of PJs

关键词： Peutz-Jeghers syndrome Balloon assisted enteroscopy Polypectomy

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Incidence of umbilical vein catheter-associated thrombosis of the portal system: A systematic review and meta-analysis

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World Journal of Hepatology 2021年第11期13卷 1802-1815页

作者： Iliana Bersani Fiammetta Piersigilli Giulia Iacona Immacolata savarese Francesca Campi Andrea Dotta Cinzia Auriti Enrico Di stasio Matteo Garcovich Medical and surgical Neonatology Bambino GesùChildren's HospitalRome 00165Italy Department of Neonatology Cliniques Universitaires Saint LucUniversitèCatholique de LouvainBruxelles 1200Belgium Faculty of Medicine Imperial College LondonLondon SW72AZUnited Kingdom Department of Biochemistry and Clinical Biochemistry Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversitàCattolica del Sacro CuoreRoma 00168Italy CEMAD Digestive Disease Center Fondazione Policlinico Universitario Agostino Gemelli IRCCSRome 00168Italy CEMAD Digestive Disease Center UniversitàCattolica del Sacro CuoreRome 00168Italy

BACKGROUND The use of umbilical venous catheters(UVCs)in the perinatal period may be associated with severe complications,including the occurrence of portal vein thrombosis(PVT).AIM To assess the incidence of UVC-related PVT in infants with postnatal age up to three *** A systematic and comprehensive database searching(PubMed,Cochrane Library,scopus,Web of science)was performed for studies from 1980 to 2020(the search was last updated on November 28,2020).We included in the final analyses all peer-reviewed prospective cohort studies,retrospective cohort studies and casecontrol *** reference lists of included articles were hand-searched to identify additional studies of *** were considered eligible when they included infants with postnatal age up to three months with UVC-associated *** estimates were pooled by using random effects *** quality of included studies was assessed using the Newcastle-Ottawa *** systematic review was performed according to the Preferred Reporting Items for systematic reviews and Meta-Analysis(PRIsMA)*** Overall,16 studies were considered eligible and included in the final *** data confirmed the relevant risk of UVC-related *** mean pooled incidence of such condition was 12%,although it varied across studies(0%-49%).In 15/16 studies(94%),diagnosis of thrombosis was made accidentally during routine screening controls,whilst in 1/16 study(6%)targeted imaging assessments were carried out in neonates with clinical concerns for a *** position was investigated by abdominal ultrasound(Us)alone in 1/16(6%)studies,by a combination of radiography and abdominal Us in 14/16(88%)studies and by a combination of radiography,abdominal Us and echocardiography in 1/16(6%)*** To the best of our knowledge,this is the first systematic review specifically investigating the incidence of UVC-related *** use of UVCs requires a high index of su

关键词： Portal vein thrombosis Umbilical venous catheter Portal system thrombosis Hepatic thrombosis Neonate Incidence

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Electrophysiology as a tool to unravel the origin of pancreatic pain

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World Journal of Gastrointestinal Pathophysiology 2014年第1期5卷 33-39页

作者： Dina Lelic sφren schou Olesen Carina Graversen Christina Brock Massimiliano Valeriani Asbjφrn Mohr Drewes Mech-sense Department of Gastroenterology of HepatologyM?lleparkvej 4Aalborg University Hospital Division of Neurology Ospedale Pediatrico Bambino GesùIRCCS Department of Health science and Technology Center for Sensory-Motor InteractionsAalborg University

Intense abdominal pain is the most common symptom in chronic pancreatitis, but the underlying mechanisms are not completely understood and pain management remains a significant clinical *** focus of pain origin in chronic pancreatitis traditionally has been on the pancreatic gland, assuming pain to originate in the pancreas or its surrounding organs. However, research in the last decade points to abnormal central nervous system pain *** this reason, electroencephalography has been receiving increasing attention. In contrast to imaging methods such as functional magnetic resonance and positron emission tomography, electroencephalogram has excellent temporal resolution making it possible to investigate central processing of pain on a millisecond time scale. Moreover, continuously advancing methodology made it possible to explore brain sources responsible for generation of evoked potentialsand hence to study brain reorganization due to pain in chronic pancreatitis. The aim of this review is to give an overview of the current methods and findings in electroencephalography as a tool to unravel the origin of pancreatic pain.

关键词： Chronic pancreatitis Electrophysiology Evoked potentials Brain source localization Electroencephalography frequency analysis Visceral pain Chronic pain Pancreatic pain

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产前诊断外科畸形的假阳性率

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世界核心医学期刊文摘（儿科学分册） 2006年第9期2卷 45-46页

作者： Borsellino A. Zaccara A. Nahom A. 李丹 Department of Medical and surgical Neonatology Bambino Gesù Children's HospitalPiazza S. Onofrio 400165 RomeItaly

Background/Purpose:Technical refinements and increasingly sophisticated equipment have led to higher sensitivity in prenatal diagnosis of congenital malformations; however,such progress may be accompanied by decreased specificity. The aim of this study is to evaluate evolution of prenatal diagnosis from the first sonographic suspicion of fetal anomaly until after delivery (diagnosis confirmed,resolution before birth,healthy baby,or affected with different disorder) to document rate of false-positive (FP) results. Methods:Retrospective review of prenatal ultrasound examinations performed at our institution between 2000 and 2002 was conducted. The series includes pregnancies referred to our department after detection of thoracic and abdominal anomalies at routine obstetrical sonography and with a follow-up comprising at least the first 6 months of life. Urologic malformations were excluded. Those fetuses who proved healthy at birth were considered FP results. Results:One hundred fifty-seven fetuses/neonates underwent complete follow-up. Prenatal diagnosis of esophageal atresia resulted in 3 (27% ) of 11 FPs. Finding of dilated bowel,isolated or associated with hyperechogenicity or ascites,was not predictive of small bowel obstruction in 7 (41% ) of 17 fetuses. No FPs were found with regard to abdominal wall defects (8 gastroschisis and 26 omphaloceles,all confirmed at birth). Concerning thoracic malformations,no FPs were seen among the 28 cases of congenital diaphragmatic hernia,whereas diagnosis of lung malformation presented a specificity of 97% (1/28 FP). Ovarian cysts accounted for an FP rate of 17% (4/23 FPs). Overall,a percentage of FP of 12% (6/50) was seen in 2000,of 11% (5/44) in 2001,and 9% (6/63) in 2002,with no statistically significant difference. Conclusions:Because of the high FP rate regarding some particular anomalies,unnecessary psychological burden to prospective parents may ensue. This issue should be dealt with in future prospective studies.

关键词：产前诊断假阳性产前超声检查产科超声检查正常胎儿先天性膈疝肺发育不良食管闭锁小肠梗阻

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Digital liver biopsy:Bio-imaging of fatty liver for translational and clinical research

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World Journal of Hepatology 2018年第2期10卷 231-245页

作者： Marcello Mancini Paul summers Francesco Faita Maurizia R Brunetto Francesco Callea Andrea De Nicola Nicole Di Lascio Fabio Farinati Amalia Gastaldelli Bruno Gridelli Peppino Mirabelli Emanuele Neri Piero A salvadori Eleni Rebelos Claudio Tiribelli Luca Valenti Marco salvatore Ferruccio Bonino Institute of Biostructure and Bioimaging National Research CouncilNaples 80145Italy European Institute of Oncology(IEO)irccs Milan 20141Italy Institute of Clinical Physiology(IFC) National Research Council(CNR)Pisa 56124Italy Hepatology Unit Department of Clinical and Experimental MedicineUniversity Hospital of PisaPisa 56125Italy Department of Pathology Children Hospital Bambino GesùIRCCSRome 00165Italy AsL 2 Abruzzo Policlinico SS AnnunziataChieti 66100Italy Department of Gastroenterology Oncology and Surgical SciencesUniversity of PaduaPadua 35121Italy Cardio-metabolic Risk Laboratory Institute of Clinical Physiology(IFC)National Research Council(CNR)Pisa 56124Italy Institute for Health University of Pittsburgh Medical Center(UPMC)Chianciano Terme 53042Italy irccs sDN spA Naples 80143Italy Diagnostic Radiology 3 Department of Translational ResearchUniversity of Pisa and“Ospedale S.Chiara”AOUPPisa 56126Italy Fondazione Italiana Fegato(FIF) Area Science ParkCampus BasovizzaTrieste 34012Italy Department of Pathophysiology and Transplantation Universitàdegli Studi di Milano and Department of Internal Medicine and Metabolic DiseasesFondazione IRCCS Ca’Granda Ospedale PoliclinicoMilan 20122Italy

The rapidly growing field of functional, molecular and structural bio-imaging is providing an extraordinary new opportunity to overcome the limits of invasive liver biopsy and introduce a "digital biopsy" for in vivo study of liver pathophysiology. To foster the application of bio-imaging in clinical and translational research, there is a need to standardize the methods of both acquisition and the storage of the bio-images of the liver. It can be hoped that the combination of digital, liquid and histologic liver biopsies will provide an innovative synergistic tri-dimensional approach to identifying new aetiologies, diagnostic and prognostic biomarkers and therapeutic targets for the optimization of personalized therapy of liver diseases and liver cancer. A group of experts of different disciplines(special Interest Group for Personalized Hepatology of the Italian Association for the study of the Liver, Institute for Biostructures and Bio-imaging of the National Research Council and Bio-banking and Biomolecular Resources Research Infrastructure) discussed criteria, methods and guidelines for facilitating the requisite application of data collection. This manuscript provides a multi-Author review of the issue with special focus on fatty liver.

关键词： Biobank Bio-imaging Fatty liver Genomics Liver biopsy Liver cancer Non-alcoholic fatty liver disease Non-alcoholic steatohepatitis Magnetic resonance Radiomics Ultrasound

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Peliosis hepatis as an early histological finding in idiopathic portal hypertension: A case report

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World Journal of Gastroenterology 2006年第22期12卷 3612-3615页

作者： Annalisa Berzigotti Donatella Magalotti Paola Zappoli Cristina Rossi Francesco Callea Marco Zoli Dipartimento di Medicina Interna Cardioangiologia EpatologiaPoliclinico S.Orsola-MalpighiUniversità di Bologna Italy Dipartimento di scienze Radiologiche ed Istocitopatologiche Policlinico s.Orsola-Malpighi Università di BolognaItaly servizio di Anatomia Patologica Ospedale Pediatrico bambino gesù IRCCSRomaItaly Dipartimento di Medicina Interna Cardioangiologia EpatologiaPoliclinico S.Orsola-MalpighiUniversità di BolognaItaly

Peliosis hepatis is a rare condition characterized by dilatation of hepatic sinusoids and blood-filled spaces in the liver mainly observed in subjects exposed to toxic substances or estrogens, which is frequently asymptomatic. Non-cirrhotic idiopathic portal hypertension （NCIPH） is also a vascular disease of the liver rarely observed in European countries, which is usually diagnosed only when the hemorrhagic complications of portal hypertension occur. We report a case of NCIPH in a young Caucasian male who was diagnosed with liver peliosis, showing ultrasonographic and endoscopic signs of portal hypertension four years after. A second biopsy was diagnostic for NCIPH. Even if the pathogenesis remains obscure, peliosis hepatis can be considered as an early sign of vascular disease of the liver, which may progress to more definite conditions.

关键词： Peliosis hepatis Idiopathic portal hypertension Hepatic veins catheterisation

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Italian survey on non-steroidal anti-inflammatory drugsand gastrointestinal bleeding in children

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World Journal of Gastroenterology 2016年第5期22卷 1877-1883页

作者： sabrina Cardile Massimo Martinelli Arrigo Barabino Paolo Gandullia salvatore Oliva Giovanni Di Nardo Luigi Dall'Oglio Francesca Rea Gian Luigi de'Angelis Barbara Bizzarri Graziella Guariso Enzo Masci Annamaria staiano Erasmo Miele Claudio Romano Gastroenterology and Endoscopic Unit Department of PediatricsUniversity of Messina98100 MessinaItaly Department of Translational Medical science Section of PediatricsUniversity of Naples“Federico II”80131 NaplesItaly Department of Pediatric Gastroenterology Gaslini Institute16148 GenoaItaly Department of Pediatrics and Infantile Neuropsychiatry Pediatric Gastroenterology and Liver UnitSapienza University of Rome00185 RomeItaly Digestive surgery and Endoscopy Unit Bambino GesùChildren’s Hospital00165 RomeItaly Gastroenterology and Endoscopy service University of Parma43126 ParmaItaly Unit of Paediatric Gastroenterology Digestive EndoscopyHepatologyand Care of Children with Liver TransplantationDepartment of Women’s and Children’s HealthUniversity Hospital of Padova35128 PadovaItaly Gastrointestinal Endoscopy Azienda Ospedaliera San Paolo University HospitalUniversity of Milan20142 MilanItaly

AIM: To investigate gastrointestinal complications associated with non-steroidal anti-inflammatory drug(NsAIDs) use in ***: A retrospective, multicenter study was conducted between January 2005 and January 2013, with the participation of 8 Italian pediatric gastroenterology centers. We collected all the cases of patients who refer to emergency room for suspected gastrointestinal bleeding following NsAIDs consumption, and underwent endoscopic evaluation. Previous medical history, associated risk factors, symptoms and signs at presentation, diagnostic procedures, severity of bleeding and management of gastrointestinal bleeding were collected. In addition, data regarding type of drug used, indication, dose, duration of treatment and prescriber(physician or selfmedication) were examined. REsULTs: Fifty-one patients, including 34 males, were enrolled(median age: 7.8 years). Ibuprofen was the most used NsAID [35/51 patients(68.6%)]. Pain was the most frequent indication for NsAIDs use [29/51 patients(56.9%)]. seven patients had positive family history of Helicobacter pylori(H. pylori) infection or peptic ulcer, and 12 had associated comorbidities. Twenty-four(47%) out of 51 patients used medication inappropriately. Hematemesis was the most frequent symptom(33.3%). Upper gastrointestinal endoscopy revealed gastric lesions in 32/51(62%) patients, duodenal lesions in 17(33%) and esophageal lesions in 8(15%). In 10/51(19.6%) patients, a diagnosis of H. pylori gastritis was made. Forty-eight(94%) patients underwent medical therapy, with spontaneous bleeding resolution, while in 3/51(6%) patients, an endoscopic hemostasis was ***: The data collected in this study confirms that adverse events with the involvement of the gastrointestinal tract secondary to NsAID use are also common in

关键词： Hematemesis Gastrointestinal bleeding non-steroidal anti-inflammatory drug Melena Pediatrics

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CRIsPR-Cas9 Gene Editing for sickle Cell Disease and β-Thalassemia

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四川生理科学杂志 2020年第4期42卷 506-506页

作者： Haydar Frangoul From the sarah Cannon Center for Blood Cancer at the children’s hospital at Tristar Centennial Nashville (H.F. J.D.) and St. Jude Children’s Research Hospital Memphis (A.S.) — both in Tennessee Vertex Pharmaceuticals (D.A. B.K.E. J.L.-H. A.Y.) and Boston University School of Medicine (M.H.S.) Boston and CRISPR Therapeutics Cambridge (Y.-S.C. T.W.H. A. Kernytsky S. Soni) — both in Massachusetts the University of Milan Milan (M.D.C.) and Ospedale Pediatrico Bambino Gesù Rome Sapienza University of Rome Rome (F.L.) the University of Regensburg Regensburg (J. Foell S.C.) and Children’s University Hospital University of Tübingen Tübingen (R.H.) — both in Germany Imperial College Healthcare NHs Trust St. Mary’s Hospital London (J. de la Fuente) children’s hospital of Philadelphia Perelman School of Medicine at the University of Pennsylvania Philadelphia (S.G.) the University of Athens Athens (A. Kattamis) BC children’s hospital University of British Columbia Vancouver (A.M.L.) and the Hospital for Sick Children–University of Toronto Toronto (D.W.) — both in Canada Columbia University (M.Y.M.) and the Joan and sanford I. Weill Medical College of Cornell University (s. sheth) New York Necker–Enfants Malades hospital Assistance Publique–Hôpitaux de Paris University of Paris Paris (M.M.) and the University of Illinois at Chicago Chicago (D.R.).

Transfusion-dependent β-thalassemia(TDT)and sickle cell disease(sCD)are severe monogenic diseases with severe and potentially life-threatening ***11A is a transcription factor that represses γ-globin expression and fetal hemoglobin in erythroid *** performed electroporation of CD34+hematopoietic stem and progenitor cells obtained from healthy donors,with CRIsPR-Cas9 targeting the BCL11A erythroid-specific *** 80% of the alleles at this locus were modified,with no evidence of off-target *** undergoing myeloablation,two patients-one with TDT and the other with sCD-received autologous CD34+cells edited with CRIsPR-Cas9 targeting the same BCL11A *** than a year later,both patients had high levels of allelic editing in bone marrow and blood,increases in fetal hemoglobin that were distributed pancellularly,transfusion independence,and(in the patient with sCD)elimination of vaso-occlusive episodes.

关键词： fetal transfusion patients

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术前气管支气管镜检查对于食管闭锁的新生儿是否有作用

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世界核心医学期刊文摘（儿科学分册） 2006年第11期2卷 50-51页

作者： Atzori P. Iacobelli B.D. Bottero s. 刘凯 Neonatal surgery Unit-Department of Medical and surgical Neonatology Bambino GesùChildrens' Hospital Rome 00165Italy

Background/Purpose: Despite surgical refinements, perioperative use of tracheobronchoscopy (TBs) as part of surgical approach to esophageal atresia (EA) is still controversial. The purpose of this study was to evaluate the influence of preoperative TBs in newborns with EA in preventing complications and improving diagnosis and surgical treatment. Methods: In the period ranging from 1997 to 2003, 62 patients with EA underwent preoperative TBs. The procedure was carried out with flexible bronchoscope maintaining spontaneous *** a wide carinal fistula was found, this was mechanically occluded by Fogarty catheter and cannulated with rigid *** of EA, surgical procedure variations caused by TBs, and associated anomalies not easily detectable were recorded. Results: Before TBs, the Gross classification of the 62 patients was as follows: type A, 9 patients; type B,none; type C, 51 patients. At TBs, however, 3 of 9 type A patients had an unsuspected proximal fistula (type B). These 3 patients, plus the 2 with H-type fistula, were repaired through a cervical approach. In 4 patients, previously undetected malformations of the respiratory tree (2 aberrant right upper bronchus and 2 hypoplastic bronchi) were found at TBs. Carinal fistulas in 14 type C patients were occluded by Fogarty catheter to improve ventilation during repair. No complications were ***, TBs was clinically useful in 28 (45.2%) of 62 patients, including 15 (24.2%) of 62 infants in whom it was crucial in modifying the surgical approach. Conclusion:Tracheobronchoscopy is a useful and safe procedure and should be recommended in tertiary centers for babies with EA before surgical repair.

关键词：食管闭锁气管畸形硬质支气管镜气管隆凸气管食管瘘手术修补确诊率合并畸形分类情况发育不

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