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Non-invasive prenatal testing can detect silent cancers in expecting mothers

Genes & Diseases 2024年第2期11卷 585-588页

作者： Alessandro Ottaiano Monica Ianniello Nadia Petrillo Mariachiara Santorsola Luigia De Falco Salvatore Giovanni Castaldi Maria Antonietta Castaldi valentina giudice Carmine Selleri Giovanni Savarese Unit of Innovative Therapies for Abdominal Metastases Istituto Nazionale Tumori di NapoliIRCCS “G.Pascale”Via Mariano SemmolaNapoli 80131Italy AMES Centro Polidiagnostico Strumentale SRLVia Padre Carmine Fico 24Casalnuovo Di Napoli 80013Italy Specialization School of Clinical Pathology Università degli Studi di SalernoVia Giovanni Paolo II 132Fisciano 84084Italy Unit of High-Risk Pregnancy and Prenatal Diagnosis University Hospital “San Giovanni di Dio e Ruggi d'Aragona”Via San LeonardoSalerno 84125Italy Hematology and Transplant Center University Hospital “San Giovanni di Dio e Ruggi d'Aragona”Via San LeonardoSalerno 84125Italy Department of Medicine Surgery and Dentistry“Scuola Medica Salernitana”Via Salvador Allende 43Baronissi 84081Italy

Pregnancy is a unique physiological state in which several changes occur.One of the most important aspects is the maternal immune system,which sets to tolerate the presence of thedeveloping fetus(a semi-allogeneic organism),while at the same time providing protection against pathogens.1 Pregnancy has long been known to affect the risk of certain cancers including breast cancer in the short term,gestational trophoblastic disease(GTD),cervical cancer,and melanoma.2,3 The reasons for the increased risk of these cancers during pregnancy are not fully understood,but several hypotheses have been proposed as the hormonal and immune system changes.

关键词： mother cancers fetus

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Pediatric non-alcoholic fatty liver disease and kidney function: Effect of HSD17B13 variant

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World Journal of Gastroenterology 2020年第36期26卷 5474-5483页

作者： Anna Di Sessa Giuseppina Rosaria Umano Grazia Cirillo Antonio Paride Passaro valentina Verde Domenico Cozzolino Stefano Guarino Pierluigi Marzuillo Emanuele Miraglia del giudice Department of Woman Child and of General and Specialized SurgeryUniversitàdegli Studi della Campania Luigi VanvitelliNapoli 80138Italy Department of Internal Medicine Universitàdegli Studi della Campania Luigi VanvitelliNapoli 80138Italy

BACKGROUND Growing evidence supports a genetic link between non-alcoholic fatty liver disease(NAFLD)and chronic kidney disease(CKD).Interesting data demonstrated that both the major NAFLD risk polymorphisms such as the I148M polymorphism in the patatin like phospholipase containing domain 3(PNPLA3)and the E167K allele in the transmembrane 6 superfamily member 2 gene(TM6SF2)affect renal function.Recently the hydroxysteroid 17-beta dehydrogenase 13(HSD17B13)gene has been recognized as a novel genetic variant involved in NAFLD pathophysiology.In particular,it has been showed the protective effect of the rs72613567:TA variant of this gene against liver damage both in adults and children.AIM To investigate the impact of the rs72613567:TA variant of the HSD17B13 gene on estimated glomerular filtration rate(eGFR)in obese children.METHODS We enrolled 684 obese children(mean age 10.56±2.94 years;mean BMI-SDS 2.98±0.78)consecutively attending our Obesity Clinic.All the patients underwent a careful clinical assessment and a comprehensive biochemical evaluation.To detect hepatic steatosis,a liver ultrasound was performed.NAFLD was defined by ultrasound detected liver steatosis and/or alanine aminotransferase(ALT)levels>40 IU/L.The study population was divided on the basis of the NAFLD presence.Genotyping for the rs72613567:TA variant of the HSD17B13 gene in all the enrolled subjects was also made.RESULTS Patients carrying the HSD17B13 rare A allele showed higher eGFR levels compared with homozygous patients both among subjects with and without NAFLD.A general linear model confirmed a direct and significant association of eGFR values with HSD17B13 genotype independently of PNPLA3 and TM6SF2 polymorphisms both in patients with and without NAFLD.A comparison of regression line confirmed the influence of HSD17B13 genotype on the relationship between eGFR and age both among patients with and without NAFLD.H omozygous patients for HSD17B13 genotype with NAFLD showed a significantly higher decline of eGFR with the increase of the a

关键词： Hydroxysteroid Dehydrogenase Fatty Liver Renal Function Obese Children

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Percutaneous Angioplasty in Diabetic Patients with Critical Limb Ischemia and Chronic Kidney Disease

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Open Journal of Endocrine and Metabolic Diseases 2013年第3期3卷 208-212页

作者： Laura Giurato Roberto Gandini Marco Meloni Enrico Pampana Valeria Ruotolo valentina Izzo Sebastiano Fabiano Costantino Del giudice Luigi Uccioli Department of Internal Medicine of University of Tor Vergata Rome Italy

Introduction: Diabetes and Chronic Kidney Disease (CKD) are two strong risk factors for peripheral arterial disease (PAD) and Critical Limb Ischemia (CLI). Further renal insufficiency increases the risk of non healing wounds and major amputation. Primary amputation rates of 22% to 44% have been reported for ischaemic foot lesion in End-Stage Renal Disease (ESRD) patients. In our study we evaluated the outcomes after Percutaneus Transluminal Angioplasty (PTA) in diabetic patient in relation to different CKD classes. Materials and Methods: We studied a group of 456 diabetic patients with PAD complicated by foot lesion who underwent PTA because of a CLI. According to the estimated Glomerular Filtration Rate (eGFR mL/min/1.73 m2) we divided the patients into five CKD groups: group 1 eGFR > 90, group 2 eGFR 90 - 60 (n = 160), group 3 eGFR 60 - 30 (n = 152), group 4 eGFR 30 -15 (n = 34) and group 5 < 15 or in ESRD) (n = 60). The following outcomes were recorded: alive without major amputation, alive with major amputation and death. The follow-up was 16.7 ± 14.3 months. Results: Alive without major amputation, alive with major amputation and death were respectively: for group 1 (77.8%, 11.1%, 11.1%), for group 2 (74.4%, 12.5%, 13.1%), for group 3 (80.3%, 11.2%, 8.5%), for group 4 (82.3%, 8.8%, 8.8%). They were 60%, 18.3%, 21.7% for group 5 significantly different from the other CKD groups (χ2 = 0.0175). Our analysis did not highlight any relationship between eGFR and outcomes and eGFR did not show any significant difference according to the different outcomes, and were respectively 60.2 ± 1.3, 61.8 ± 3.4, 63.8 ± 3.5 (P = ns). Conclusion: The outcomes were similar for groups 1-4 and therefore, according to our data, they seemed not to be influenced by the decline of GFR. Outcomes worse significantly in group 5, but this group included only patients with ESRD in dialysis treatment. Although the outcomes after PTA in group 5 was significantly worse than the other groups, still a 60% limb salvage rate was obtained with PTA

关键词： Diabetes Peripheral Arterial Disease Chronic Kidney Disease Angioplasty

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免疫疗法联合立体定向放疗治疗非小细胞肺癌脑转移:一项AIRO多中心回顾性研究

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中国肺癌杂志 2022年第4期25卷 I0007-I0022页

作者： Silvia SCOCCIANTI Emanuela OLMETTO valentina PINZI Mattia Falchetto OSTI Rossella Di FRANCO Saverio CAINI Paola ANSELMO Paolo MATTEUCCI Davide FRANCESCHINI Cristina MANTOVANI Giancarlo BELTRAMO Francesco PASQUALETTI Alessio BRUNI Paolo TINI Emilia giudice Patrizia CIAMMELLA Anna MERLOTTI Sara PEDRETTI Marianna TRIGNANI Marco KRENGLI NiccolòGIAJ-LEVRA Isacco DESIDERI Guido PECCHIOLI Paolo MUTO Ernesto MARANZANO Laura FARISELLI Pierina NAVARRIA Umberto RICARDI Vieri SCOTTI Lorenzo LIVI 王绿化(翻译/校对) Radiation Oncology Unit Ospedale Santa Maria AnnunziataDepartment of OncologyBagno a RipoliFlorenceItaly Radiation Oncology Unit Azienda Ospedaliero Universitaria CareggiDepartment of Experimental and Clinical Biomedical Sciences"Mario Serio"FlorenceItaly U.O Radioterapia Fondazione IRCCS Istituto Neurologico Carlo BestaDepartment of NeurosurgeryMilanItaly U.O.C Radioterapia A.O.U Sant'Andrea Facolta Medicina e Psicologia Universita SapienzaDepartment of MedicineSurgery and Translational MedicineRomeItaly Istituto Nazionale Tumori IRCCS Fondazione G.PascaleDepartment of RadiotherapyNaplesItaly Institute for Cancer Research Prevention and Clinical Network(ISPRO)Cancer Risk Factors and Life-Style Epidemiology UnitFlorenceItaly Radiotherapy Oncology Center S.Maria HospitalDepartment of OncologyTerniItaly Humanitas Research Hospital Radiotherapy and Radiosurgery DepartmentRozzanoItaly Radiotherapy Unit Department of OncologyTurinItaly Cyberknife Centro Diagnostico Italiano Department of RadiologyMilanItaly Radiation Oncology Azienda Ospedaliero Universitaria PisanaDepartment of Translational MedicinePisaItaly Radiotherapy Unit University Hospital of ModenaDepartment of Oncology and HematologyModenaItaly Radiotherapy Unit University of SienaDepartment of Radiotherapy and OncologySienaItaly UOC di Radioterapia Policlinico Universitario Tor VergataDepartment of Onco-HaematologyRomeItaly Radioterapia Oncologica"G.Prodi "AO-IRCCS Arcispedale S.Maria NuovaDepartment of Oncology and Advanced TechnologyReggio EmiliaItaly Radiation Oncology A.S.O.S.Croce e Carle Department of Radiation OncologyCuneoItaly U.O.Radioterapia Oncologica Department of Radiation OncologyASST Spedali Civili di Brescia e Universita degli studi di BresciaBresciaItaly U.O.C.Radioterapia Oncologica Ospedale Clinicizzato SS Annunziata-Universita Chieti G.D'AnnunzioDepartment of Radiation OncologyChietiItaly Radiation Oncology University Hospital Maggiore della CaritdDepartment of Translational Medicine

背景与目的通过意大利放射治疗和临床肿瘤学学会(Italian Association of Radiotherapy and Clinical Oncology, AIRO)的一项多中心回顾性研究,明确免疫疗法(immunotherapy, IT)和立体定向放疗(stereotactic radiotherapy,SRT)包括放射外科治疗(radiosurgery, RS)或大分割立体定向放疗(hypofractionated stereotactic radiotherapy, HFSRT)治疗非小细胞肺癌(non-small cell lung cancer, NSCLC)脑转移的疗效和毒性。方法对来自19个意大利中心接受SRT+IT的NSCLC伴脑转移患者进行分析,并与单独接受SRT的对照组患者进行比较。结果共纳入SRT+IT组100例和单独SRT组50例。接受SRT+IT的患者有更长的颅内局部无进展生存期(intracranial local progression-free survival, i LPFS)(经倾向性评分调整后,P=0.007)。在诊断为脑转移时接受IT合并有颅外进展的患者中(n=24),接受SRT后再进行IT与较好的总生存期(overall survival, OS)相关(P=0.037)。多因素分析显示组织学类型为非腺癌、卡氏体能状态(Karnofsky performance status,KPS)评分=70分以及接受HFSRT与显著减少的生存期相关(P值分别为0.019、0.017和0.007)。与SRT和IT治疗间隔>7天(n=10)相比,治疗间隔≤7天(n=90)与更长的OS相关(经倾向性评分调整后,P=0.008)。联合治疗耐受性良好。在放射性坏死方面,接受SRT+IT的患者与单独SRT的患者无显著差异。SRT和IT的治疗间隔对毒性发生率无影响。结论 SRT+IT是一种安全的联合治疗方法,与单独SRT相比,具有更长的i LPFS。

关键词：立体定向放疗回顾性研究脑转移倾向性评分临床肿瘤学免疫疗法放射治疗

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