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Targeted NGS analysis reveals a complex genetic background of idiopathic erythrocytosis in a large Venetian family

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Genes & Diseases 2024年第2期11卷 561-563页

作者： Bertozzi Irene Benetti Andrea Regazzo Daniela Polese Francesca Biagetti giacomo Ceolotto Giulio Randi Maria Luigia First Medical Clinic University of Padua Department of Medicine – DIMEDVia Giustiniani 2Padova 35123Italy Transfusion Medicine Department Ospedale dell'Angelo - Venezia MestreVia Paccagnella 1Venice 30174Italy Emergency Medicine University of Padua Department of Medicine – DIMEDVia Giustiniani 2Padova 35123Italy

Absolute erythrocytosis,due to an increased production of red blood cells,becomes manifest with hemoglobin(Hb)levels above 165 or 160 g/L or with a hematocrit(HCT)above 51%and 48%in males and females,respectively.1 A minority of patients have polycythemia vera(PV);acquired secondary erythrocytosis frequently occurs due to appropriate or inappropriate erythropoietin(EPO)excess,while congenital secondary erythrocytosis may derive from genetic defects causing tissue *** erythrocytosis occurs in patients with genetic mutations of the oxygen-sensing pathway(VHL,PHD2,_HIF-1-alpha)or the erythropoietin receptor(EPOR)genes.2 Recently,HFE gene variants have been described in sporadic erythrocytoses.3 In a high proportion(about 70%)of patients with erythrocytosis,a specific etiology remains elusive despite extensive testing,and the diagnosis of idiopathic erythrocytosis(IE)is ruled out.

关键词： diagnosis patients congenital

Lattice Boltzmann Analysis of Fluid-Structure Interaction with Moving Boundaries

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Communications in Computational Physics 2013年第3期13卷 823-834页

作者： Alessandro De Rosis giacomo Falcucci Stefano Ubertini Francesco Ubertini Sauro Succi Department of Civil Environmental and Materials EngineeringUniversity of BolognaBologna 40136Italy Department of Technologies University of Naples“Parthenope”NaplesItaly DEIM-Industrial Engineering School University of TusciaLargo dell’Universit`a s.n.c.01100ViterboItaly Istituto per le Applicazioni del Calcolo-CNR Via dei Taurini00100 RomaItaly

This work is concerned with the modelling of the interaction of fluid flow with flexibly supported rigid *** fluid flow is modelled by Lattice-Boltzmann Method,coupled to a set of ordinary differential equations describing the dynamics of the solid body in terms its elastic and damping *** time discretization of the body dynamics is performed via the Time Discontinuous Galerkin *** numerical examples are presented and highlight the robustness and efficiency of the proposed methodology,by means of comparisons with previously published *** examples show that the present fluid-structure method is able to capture vortexinduced oscillations of flexibly-supported rigid body.

关键词： Lattice-Boltzmann method fluid-structure interaction

Rectal hepatoid carcinoma with liver metastases in a patient affected by ulcerative colitis

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Hepatobiliary & Pancreatic Diseases International 2008年第5期7卷 539-543页

作者： giacomo Borgonovo Francesco Razzetta Michela Assalino Emanuela Varaldo Maria Puglisi Paola Ceppa Dipartimento di Discipline Chirurgiche Morfo- logiche e Metodologie Integrate(DiCMI)Universitàdegli Studi di Genova.Largo Benzi8.16132 GenovaItaly

BACKGROUND:Hepatoid tumors(HTs)are rare extra-hepatic neoplasms with the histological features, biochemical profile and,sometimes,even clinical course of hepatocellular *** present a case of rectal hepatoid adenocarcinoma with metachronous liver metastases. METHODS:Four months after total procto-colectomy for a rectal adenocarcinoma(Astler-Coller C2),a 42-year-old man with ulcerative colitis showed hypoechoic masses in the hepatic parenchyma by abdominal ultrasonography. Carcinoembryonic antigen was normal,but alpha- fetoprotein was 32 000μg/***-needle biopsy revealed that liver masses were positive for hepatocellular carcinoma. The patient underwent left hepatectomy and alcoholisation of a small deep nodule in segment 8. RESULTS:Immunohistochemistry and albumin mRNA in situ hybridization suggested that the nodules were metastases of a *** patient was well during the first 6 months and refused any adjuvant *** died from liver failure 19 months after initial diagnosis. CONCLUSIONS:HT is a rare colon *** preoperative diagnosis of this tumor requires a high degree of suspicion,the availability of a panel of immunohistochemical markers,and a certain amount of *** prognosis is poor despite an aggressive andmultimodal therapeutic *** far,none of the hypotheses proposed about the origin and the biology of these tumors is convincing.

关键词： colon cancer ulcerative colitis hepatocellular carcinoma hepatectomy alpha-fetoprotein

Staging colorectal cancer with the TNM 7^(th):The presumption of innocence when applying the M category

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World Journal of Gastroenterology 2013年第8期19卷 1152-1157页

作者： giacomo Puppa Graeme Poston Per Jess Guy F Nash Kenneth Coenegrachts Axel Stang Service de Pathologie Clinique Hpitaux Universitaires de Genève1211 GenevaSwitzerland Department of Surgery Aintree University HospitalsLiverpool L9 7ALUnited Kingdom Department of Surgery Roskilde HospitalUniversity of Copenhagen2200 CopenhagenDenmark Department of Colorectal Surgery Poole General HospitalPoole BH15 2JBUnited Kingdom Department of Radiology AZ St.-Jan Brugge-Oostende AVB-8000 BrugesBelgium Department of Oncology Hematology and Palliative CareAsklepios Hospital Hamburg-Barmbek22291 HamburgGermany

One of the main changes of the current TNM-7 is the elimination of the category MX,since it has been a source of ambiguity and misinterpretation,especially by *** the ultimate staging would be better performed by the patient's clinician who can classify the disease M0(no distant metastasis) or M1(presence of distant metastasis),having access to the completeness of data resulting from clinical examination,imaging workup and pathology *** this important change doesn't take into account the diagnostic value and the challenge of small indeterminate visceral lesions encountered,in particular,during radiological staging of patients with colorectal *** this article the diagnosis of these lesions with multiple imaging modalities,their frequency,significance and relevance to staging and disease management are described in a multidisciplinary *** particular the interplay between clinical,radiological and pathological staging,which are usually conducted independently,is *** integrated approach shows that there are both advantages and disadvantages to abandoning the MX *** avoid ambiguity arising both by applying and interpreting MX category for stage assigning,its abandoning seems *** recognition of the importance of small lesion characterization raises the need for applying a separate category;therefore a proposal for their categorization is put *** using the proposed categorization the lack of consideration for indeterminate visceral lesions with the current staging system will be overcome,also optimizing tailored follow-up.

关键词： Colorectal cancer Staging Indeterminate lesions Imaging Metastases

Planarized THz quantum cascade lasers for broadband coherent photonics

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Light(Science & Applications) 2022年第12期11卷 3098-3108页

作者： Urban Senica Andres Forrer Tudor Olariu Paolo Micheletti Sara Cibella Guido Torrioli Mattias Beck Jerome Faist giacomo Scalari Quantum Optoelectronics Group Institute of Quantum ElectronicsETH Zurich8093 ZürichSwitzerland Istituto di Fotonica e Nanotecnologie CNRVia del Fosso del Cavaliere 10000133 RomeItaly

Recently,there has been a growing interest in integrated THz photonics for various applications in communications,spectroscopy and *** present a new integrated photonic platform based on active and passive elements integrated in a double-metal,high-confinement waveguide layout planarized with a low-loss *** extended top metallization keeps waveguide losses low while improving dispersion,thermal and RF properties,as it enables to decouple the design of THz and microwave ***-running on-chip quantum cascade laser combs spanning 800 GHz,harmonic states with over 1.1 THz bandwidth and RF-injected broadband incoherent states spanning over nearly 1.6 THz are observed using a homogeneous quantum-cascade active *** a strong external RF drive,actively mode-locked pulses as short as 4.4 ps can be produced,as measured by *** demonstrate as well passive waveguides with low insertion loss,enabling the tuning of the laser cavity boundary conditions and the cointegration of active and passive elements on the same THz photonic chip.

关键词： waveguide passive tuning

Sex differences in the risk of retinopathy of prematurity:a systematic review,frequentist and Bayesian meta‑analysis,and meta‑regression

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World Journal of Pediatrics 2024年第4期20卷 340-352页

作者： Tamara M.Hundscheid Silvia Gulden Mohamad F.Almutairi František Bartoš giacomo Cavallaro Eduardo Villamor Division of Neonatology Department of PediatricsMosaKids Children’s HospitalMaastricht University Medical Center(MUMC+)School for Oncology and Reproduction(GROW)Maastricht UniversityP.Debyelaan 25.P.O.Box 58006202 AZ MaastrichtThe Netherlands Neonatal Intensive Care Unit Sant’Anna HospitalComoItaly Department of Psychology University of Amsterdam1001 NK AmsterdamThe Netherlands Neonatal Intensive Care Unit Fondazione IRCCS Ca’Granda Ospedale Maggiore PoliclinicoMilanItaly

Background Retinopathy of prematurity(ROP)is generally considered to be more frequent in males than in ***,it is not known whether sex differences in ROP affect all degrees of the condition,are global and have changed as neonatology has *** aimed to conduct a systematic review and meta-analysis of studies addressing sex differences in the risk of developing *** PubMed/MEDLINE and Embase databases were *** frequentist,random-effects risk ratio(RR)and 95%confidence interval(CI)were *** model averaged(BMA)meta-analysis was used to calculate the Bayes factors(BFs).The BF10 is the ratio of the probability of the data under the alternative hypothesis(H1)over the probability of the data under the null hypothesis(H0).Results We included 205 studies(867,252 infants).Frequentist meta-analysis showed a positive association between male sex and severe ROP(113 studies,RR=1.14,95%CI=1.07–1.22)but no association with any ROP(144 studies,RR=1.00,95%CI=0.96–1.03).BMA showed extreme evidence in favor of H1 for severe ROP(BF10=71,174)and strong evidence in favor of H0 for any ROP(BF10=0.05).The association between male sex and severe ROP remained stable over time and was present only in cohorts from countries with a high or high-middle sociodemographic *** Our study confirms the presence of a male disadvantage in severe ROP but not in less severe forms of the *** are variations in the sex differences in ROP,depending on geographical location and sociodemographic level of the countries.

关键词： Oxidative stress Retinopathy of prematurity Sex characteristics

Rare shear-type fracture of the talar head in a thirteen-year-old child—Is this a transitional fracture:A case report and review of the literature

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World Journal of Orthopedics 2021年第5期12卷 329-337页

作者： Luca Monestier giacomo Riva Luca Faoro Michele Francesco Surace Orthopedic and Trauma Unit ASST Sette LaghiVarese 21100Italy Residency Program in Orthopedics and Trauma University of InsubriaVarese 21100Italy Department of Biotechnology and Life Sciences University of InsubriaVarese 21020Italy

BACKGROUND Talar fractures are exceedingly rare in *** are very few studies on the clinical aspects,the long-term outcomes and the appropriate treatment of these fractures in pediatric *** mechanism of trauma consists of the application of a sudden dorsiflexion force on a fully plantar-flexed *** mechanism,symptoms and imaging of injuries of the talar head are similar to transitional fractures that are normally described at the distal epiphysis of the tibia:the so-called transitional fracture is defined as an epiphyseal injury when the growth plate has already started to *** SUMMARY A thirteen-year-old girl reported a high-energy trauma to her right foot,due to falling from her horse.X-rays at the Emergency Department were *** of persistent pain,the patient was assessed by an orthopedic surgeon after two weeks and computed tomography scans revealed a misdiagnosed displaced shear-type fracture of the talar ***,surgical open reduction and fixation with two headless screws was *** girl was assessed regularly,and plain films at follow-up revealed complete healing of the *** six months after surgery,the patient returned to pre-injury sport activities reporting no *** Injuries of the talar head in childhood should be considered as transitional *** reduction with internal fixation aims to reduce malalignment and *** tomography scans are recommended in these cases.

关键词： Head Talus Transitional fracture Child Surgical treatment Case report

Comment on:“A review on radiofrequency,microwave and high-intensity focused ultrasound ablations for hepatocellular carcinoma with cirrhosis”

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Hepatobiliary Surgery and Nutrition 2022年第4期11卷 640-642页

作者： Michele Finotti Maurizio Romano Marco Brizzolari Michele Scopelliti giacomo Zanus 4th Surgery Unit Regional Hospital TrevisoUniversity of PaduaDipartimento di Scienze Chirurgiche Oncologiche e Gastroenterologiche(DISCOG)PaduaItaly Baylor Scott&White Annette C.and Harold C.Simmons Transplant Institute Baylor University MedicalDallasTXUSA

We read with great interest the published article of Cheung et al.(1)on Hepatobiliary Surgery and *** authors provided a comprehensive review and critical evaluation of the three main locoregional ablation(LRA)techniques for liver cancer:radiofrequency(RFA),microwave(MWA),and high-intensity focused ultrasound ablations(HIFU).The focus of the paper is on their application to patients affected by hepatocellular carcinoma(HCC)in the context of end-stage liver disease.

关键词： hepatocellular Surgery al.

Operative link for gastritis assessment vs operative link on intestinal metaplasia assessment

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World Journal of Gastroenterology 2011年第41期17卷 4596-4601页

作者： Massimo Rugge Matteo Fassan Marco Pizzi Fabio Farinati giacomo Carlo Sturniolo Mario Plebani David Y Graham Surgical Pathology and Cytopathology Unit Department of Diagnostic Medical Sciences and Special TherapiesUniversity of Padova Istituto Oncologico del Veneto IOV-IRCCS Department of Gastroenterology and Surgical Sciences Gastroenterology UnitUniversity of Padova Department of Diagnostic Medical Sciences and Special Therapies Clinical Chemistry UnitUniversity of Padova Digestive Disease Division Baylor College of MedicineVeterans Administration Hospital

AIM:To compare the reliability of gastritis staging sys-tems in ranking gastritis-associated cancer risk in a large series of consecutive ***:Gastric mucosal atrophy is the precancer-ous condition in which intestinal-type gastric cancer(GC)most frequently *** operative link for gas-tritis assessment(OLGA)staging system ranks the GC risk according to both the topography and the severity of gastric atrophy(as assessed histologically on the ba-sis of the Sydney protocol for gastric mucosal biopsy).Both cross-sectional and long-term follow-up trials have consistently associated OLGA stages Ⅲ-Ⅳ with a higher risk of GC.A recently-proposed modification of the OLGA staging system(OLGIM)basically incorporates the OLGA frame,but replaces the atrophy score with an assessment of intestinal metaplasia(IM)alone.A series of 4552 consecutive biopsy sets(2007-2009)was re-trieved and reassessed according to both the OLGA and the OLGIM staging systems.A set of at least 5 biopsy samples was available for all the cases ***:In 4460 of 4552 cases(98.0%),both the high-risk stages(Ⅲ + Ⅳ)and the low-risk stages(0 +Ⅰ + Ⅱ)were assessed applying the OLGA and OL-GIM *** the 243 OLGA high-risk stages,14(5.8%)were down-staged to a low risk using *** 67(1.5%)incidentally-found neoplastic lesions(intraepithelial or invasive)were consistently associated with high-risk stages,as assessed by both OLGA and OLGIM(P < 0.001 for both).Two of 34 intestinal-type GCs coexisting with a high-risk OLGA stage(stage Ⅲ)were associated with a low-risk OLGIM stage(stage Ⅱ).CONCLUSION:Gastritis staging systems(both OLGA and OLGIM)convey prognostically important informa-tion on the gastritis-associated cancer *** of its clinical impact,the stage of gastritis should be included as a conclusive message in the gastritis histol-ogy *** it focuses on IM alone,OLGIM staging is less sensitive than OLGA staging in the identif ication of patients at high r

关键词： Gastritis Staging Atrophic gastritis Intestinal metaplasia Operative link for gastritis assessment Operative link on intestinal metaplasia assessment