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Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians

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Asian Journal of Urology 2022年第4期9卷 430-442页

作者： Alessandro Larcher Federico Belladelli Giuseppe Fallara Isaline Rowe Umberto Capitanio Laura Marandino Daniele Raggi Jody Filippo Capitanio Michele Bailo Rosangela Lattanzio Costanza Barresi Sonia Francesca Calloni Maurizio Barbera Valentina andreasi Giorgia Guazzarotti Giovanni Pipitone paola Carrera andrea Necchi Pietro Mortini Francesco Bandello andrea Falini Stefano Partelli Massimo Falconi Francesco De Cobelli andrea Salonia Ospedale San Raffaele VHL Research Program MilanItaly URI-Urological Research Institute Department of UrologyDivision of Experimental OncologyIRCCS Ospedale San RaffaeleMilanItaly Universita Vita-Salute San Raffaele MilanItaly Department of Oncology IRCCS Ospedale San RaffaeleMilanItaly Department of Neurosurgery IRCCS Ospedale San RaffaeleMilanItaly Department of Ophthalmology IRCCS Ospedale San RaffaeleMilanItaly Department of Neuroradiology IRCCS Ospedale San RaffaeleMilanItaly Pancreas Translational&Clinical Research Center OSR ENETS Center of ExcellenceUnit of Pancreatic SurgeryIRCCS Ospedale San RaffaeleMilanItaly Department of Radiology IRCCS Ospedale San RaffaeleMilanItaly Service of Laboratory Medicine Molecular Genetics Service and Clinical Genomics

Objective:The aim of the current review is to summarize the available evidence to aid clinicians in the surveillance,treatment and follow-up of the different primary tumors developed by patients diagnosed with von Hippel-Lindau(VHL)***:A non-systematic narrative review of original articles,meta-analyses,and random-ized trials was conducted,including articles in the pre-clinical setting to support relevant ***:VHL disease is the most common rare hereditary disorder associated with clear cell renal cell *** individuals inherit a germline mutation in one VHL allele,and any somatic event that disrupt the other allele can trigger mutations,chromosomal rearrange-ments,or epigenetic regulations leading to *** a clinical perspective,patients continuously develop multiple primary ***:Because VHL is considered a rare disease,very limited evidence is available for diagnosis,surveillance,active treatment with local or systemic therapy and follow-up.

关键词： Von Hippel-Lindau disease Rare tumor Genetic syndrome Clear cell renal cell carcinoma

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CD44v8-10 is a marker for malignant traits and a potential driver of bone metastasis in a subpopulation of prostate cancer cells

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Cancer Biology & Medicine 2021年第3期18卷 788-807页

作者： Rosaria A.Fontanella Silvia Sideri Chiara Di Stefano Angiolina Catizone Silvia Di Agostino Daniela F.Angelini Gisella Guerrera Luca Battistini Giulia Battafarano andrea Del Fattore Antonio Francesco Campese Fabrizio Padula paola De Cesaris Antonio Filippini Anna Riccioli Department of Anatomy HistologyForensic Medicine and OrthopaedicsUnit of Histology and Medical EmbryologySapienza UniversityRome 00161Italy Department of Health Sciences School of Medicine-"Magna Graecia"University of Catanzaro Catanzaro 88100Italy IRCCS Fondazione Santa Lucia Rome 00143 Bone Physiopathology Research Unit Genetics and Rare Diseases Research DivisionBambino GesùChildren’s HospitalIRCCSRome 00146Italy Department of Molecular Medicine Sapienza UniversityRome 00161Italy Department of Life Health and Environmental SciencesUniversity of L’AquilaL'Aquila 67100Italy

Objective:Bone metastasis is a clinically important outcome of prostate carcinoma(PC).We focused on the phenotypic and functional characterization of a particularly aggressive phenotype within the androgen-independent bone metastasis-derived PC3 cell *** cells,originated from the spontaneous conversion of a CD44-negative subpopulation,stably express the CD44 v8-10 isoform(CD44 v8-10 pos)and display stem cell-like features and a marked invasive phenotype in vitro that is lost upon CD44 v8-10 ***:Flow cytometry,enzyme-linked immunoassay,immunofluorescence,and Western blot were used for phenotypic and immunologic ***-time quantitative polymerase chain reaction and functional assays were used to assess ***:Analysis of epithelial–mesenchymal transition markers showed that CD44 v8-10 pos PC3 cells surprisingly display epithelial phenotype and can undergo osteomimicry,acquiring bone cell phenotypic and behavioral *** of specific si RNA evidenced the ability of CD44 v8-10 variant to confer osteomimetic features,hence the potential to form bone-specific ***,the ability of tumors to activate immunosuppressive mechanisms which counteract effective immune responses is a sign of the aggressiveness of a *** we report that CD44 v8-10 pos cells express programmed death ligand 1,a negative regulator of anticancer immunity,and secrete exceptionally high amounts of interleukin-6,favoring osteoclastogenesis and immunosuppression in bone ***,we identified a novel pathway activated by CD44 v8-10,involving tafazzin(TAZ)and likely the Wnt/TAZ axis,known to play a role in upregulating osteomimetic ***:CD44 v8-10 could represent a marker of a more aggressive bone metastatic PC population exerting a driver role in osteomimicry in bone.A novel link between TAZ and CD44 v8-10 is also shown.

关键词： Metastasis epithelial phenotype EMT MET IL-6 TAZ

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Assessment of Pollutants in Wet and Dry Depositions in a Suburban Area around a Waste-to-Energy Plant (WEP) in Northern Italy

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Journal of Environmental Protection 2013年第5期4卷 16-25页

作者： Livia Vittori Antisari Francesca Ventura andrea Simoni Stefano Piana paola Rossi Pisa Gilmo Vianelloz Department of Agricultural Science Alma Mater Studiorum-University of Bologna Bologna Italy

Atmospheric concentrations of many trace elements are significantly affected by human activities, and their quantification in atmospheric deposition can be useful to ascribe to different sources of pollution. An important source of pollution, which creates concern in the inhabitants of neighboring areas, are waste-to-energy-plants, that nonetheless are necessary in the actual management of municipal solid waste. For this reason the waste-to-energy (WEP) plant of Bologna (Italy) was monitored from 2006 to 2008, collecting rainfall water in 6 sites around it. Moreover, dry deposition of pollutants was determined after leaching from leaves, with four samples collected during 2007. Trace elements were analyzed using spectrometry, deposition and fluxes were calculated. Results show that there is a large variability of concentrations of trace elements both in time and space. Moreover, the pollution in the area is quite diffused, with no clear determination of the role of the WEP. As a general remark, elements and trace elements found both in rainfall water and in leaching water from leaves showed a diffused pollution in all the monitored sites, probably due to the WEP but also to industrial/commercial area, large constructions and high traffic roads. In any case the values found in the area are comparable to values detected in similar area all over the world.

关键词： Waste-to-Energy-Plant Atmospheric Deposition Heavy Metals Pollutants Rain Water

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Sixth and seventh tumor-node-metastasis staging system compared in gastric cancer patients

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World Journal of Gastrointestinal Surgery 2013年第11期5卷 287-293页

作者： Tommaso Zurleni Elson Gjoni andrea Ballabio Roberto Casieri paola Ceriani Luca Marzoli Francesco Zurleni Department of General Surgery Hospital of Busto Arsizio21052 Busto ArsizioItaly Department of Medical Physics Hospital of BustoArsizio21052 Busto ArsizioItaly

AIM: To investigate the clinical relevance and prognosis regarding survival according to the changes of the tumor-node-metastasis(TNM) in gastric cancer patients. METHODS: We retrospectively studied 347 consecutive subjects who underwent surgery for gastric adenocarcinoma at the Division of General Surgery, Hospital of Busto Arsizio, Busto Arsizio, Italy between June 1998 and December 2009. Patients who underwent surgery without curative intent, patients with tumors of the gastric stump and patients with tumors involving the esophagus were excluded for survival analysis. Patients were staged according to the 6thand 7thedition TNM criteria; 5-year overall survival rates were investigated, and the event was defined as death from any cause. RESULTS: After exclusion, our study population included 241 resected patients with curative intent for gastric adenocarcinoma. The 5-year overall survival(5-year OS) rate of all the patients was 52.8%. Thediagnosed stage differed in 32% of 241 patients based on the TNM edition used for the diagnosis. The patients in stage Ⅱ according to the 6thedition who were reclassified as stage Ⅲ had significantly worse prognosis than patients classified as stage Ⅱ(5-year OS, 39% vs 71%). According to the 6thedition, 135 patients were classifed as T2, and 75% of these patients migrated to T3 and exhibited a significantly worse prognosis than those who remained T2, regardless of lymph node involvement(37% vs 71%). The new N1 patients exhibited a better prognosis than the previous N1 patients(67% vs 43%). CONCLUSION: 7thTNM allows new T2 and N1 patients to be selected with better prognosis, which leads to different staging. New stratification is important in multimodal therapy.

关键词： Gastric cancer Tumor-node-metastasis staging system Survival analysis Prognostic factor Lymphadenectomy

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Reconsidering the role of depression and common psychiatric disorders as partners in the type 2 diabetes epidemic

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World Journal of Diabetes 2024年第6期15卷 1374-1380页

作者： Angelo Emilio Claro Clelia Palanza Marianna Mazza Alessandro Rizzi andrea Corsello Linda Tartaglione Giuseppe Marano Giovanna Elsa Ute Muti Schuenemann Marta Rigoni Alfredo Pontecorvi Luigi Janiri paola Muti Dario Pitocco Diabetes Care Unit Department of Medical and Surgical SciencesFondazione Policlinico Universitario A Gemelli IRCCSRome 00168Italy Department of Biomedical Surgical and Dental SciencesUniversity of MilanMilan 20122Italy Istituto Italiano di Antropologia ISItARome 00100Italy Unit of Psychiatry Department of NeurosciencesFondazione Policlinico Universitario A Gemelli IRCCSUniversitàCattolica del Sacro CuoreRome 00168Italy Dipartimento di Medicina e Chirurgia Traslazionale UniversitàCattolica del Sacro CuoreRome 00168Italy Health Research Methods Evidence and Impact DepartmentMcMaster UniversityOntario 1280Canada Department of Endocrine-Metabolic and Dermo-Rheumatology Fondazione Policlinico Universitario A Gemelli IRCCSUniversitàCattolica del Sacro CuoreRome 00168Italy

Common psychiatric disorders(CPDs)and depression contribute significantly to the global epidemic of type 2 diabetes(T2D).We postulated a possible pathophysiological mechanism that through Bridge-Symptoms present in depression and CPDs,promotes the establishment of emotional eating,activation of the reward system,onset of overweight and obesity and,ultimately the increased risk of developing *** plausibility of the proposed pathophysiological mechanism is supported by the mechanism of action of drugs such as naltrexonebupropion currently approved for the treatment of both obesity/overweight with T2D and as separate active pharmaceutical ingredients in drug addiction,but also from initial evidence that is emerging regarding glucagon-like peptide 1 receptor agonists that appear to be effective in the treatment of drug *** hope that our hypothesis may be useful in interpreting the higher prevalence of CPDs and depression in patients with T2D compared with the general population and may help refine the integrated psychiatric-diabetic therapy approach to improve the treatment and or remission of T2D.

关键词： Depression Glucagon-like peptide-1 receptor agonists Diabetes mellitus type 2 Stress psychological Sleep wake disorders Food addiction

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Olfactory swab sampling optimization for α-synuclein aggregate detection in patients with Parkinson’s disease

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Translational Neurodegeneration 2022年第1期11卷 390-400页

作者： Matilde Bongianni Mauro Catalan Daniela Perra Elena Fontana Francesco Janes Claudio Bertolotti Luca Sacchetto Stefano Capaldi Matteo Tagliapietra paola Polverino Valentina Tommasini Giulia Bellavita Elham Ataie Kachoie Roberto Baruca andrea Bernardini Mariarosaria Valente Michele Fiorini Erika Bronzato Stefano Tamburin Laura Bertolasi Lorenzo Brozzetti Maria paola Cecchini Gianluigi Gigli Salvatore Monaco Paolo Manganotti Gianluigi Zanusso Department of Neurosciences Biomedicineand Movement SciencesPoliclinico G.B.RossiUniversity of Verona37134 VeronaItaly Neurology Unit Department of MedicineSurgery and Health SciencesOspedale CattinaraUniversity of Trieste34128 TriesteItaly Neurology Unit University of Udine Academic Hospital33100 UdineItaly Department of Surgical Sciences DentistryGynecology and PediatricsUniversity of Verona37134 VeronaItaly Biocrystallography Laboratory Department of BiotechnologyUniversity of Verona37134 VeronaItaly Otolaryngology Unit Department of MedicineSurgery and Health SciencesOspedale CattinaraUniversity of Trieste34128 TriesteItaly.

Background: In patients with Parkinson’s disease (PD), real-time quaking-induced conversion (RT-QuIC) detection of pathological α-synuclein (α-syn) in olfactory mucosa (OM) is not as accurate as in other α-synucleinopathies. It is unknown whether these variable results might be related to a different distribution of pathological α-syn in OM. Thus, we investigated whether nasal swab (NS) performed in areas with a different coverage by olfactory neuroepithelium, such as agger nasi (AN) and middle turbinate (MT), might affect the detection of pathological α-syn. Methods: NS was performed in 66 patients with PD and 29 non-PD between September 2018 and April 2021. In 43 patients, cerebrospinal fluid (CSF) was also obtained and all samples were analyzed by RT-QuIC for α-syn. Results: In the first round, 72 OM samples were collected by NS, from AN (NSAN) or from MT (NSMT), and 35 resulted positive for α-syn RT-QuIC, including 27/32 (84%) from AN, 5/11 (45%) from MT, and 3/29 (10%) belonging to the non-PD patients. Furthermore, 23 additional PD patients underwent NS at both AN and MT, and RT-QuIC revealed α-syn positive in 18/23 (78%) NSAN samples and in 10/23 (44%) NSMT samples. Immunocytochemistry of NS prepara-tions showed a higher representation of olfactory neural cells in NSAN compared to NSMT. We also observed α-syn and phospho-α-syn deposits in NS from PD patients but not in controls. Finally, RT-QuIC was positive in 22/24 CSF samples from PD patients (92%) and in 1/19 non-PD. Conclusion: In PD patients, RT-QuIC sensitivity is significantly increased (from 45% to 84%) when NS is performed at AN, indicating that α-syn aggregates are preferentially detected in olfactory areas with higher concentration of olfactory neurons. Although RT-QuIC analysis of CSF showed a higher diagnostic accuracy compared to NS, due to the non-invasiveness, NS might be considered as an ancillary procedure for PD diagnosis.

关键词： Parkinson disease Alpha-synuclein Real-time quaking-induced conversion assay Olfactory mucosa Cerebrospinal fluid

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COVID-19 emergency: Changes in quality of life perception in patients with chronic liver disease-An Italian single-centre study

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World Journal of Hepatology 2022年第1期14卷 274-286页

作者： Alessandra Zannella Silvia Fanella Massimo Marignani paola Begini Department of Gastroenterology Sant’Andrea HospitalRome 00189Italy

BACKGROUND In December 2019,the coronavirus disease-2019(COVID-19)emerged and rapidly spread worldwide,becoming a global health threat and having a tremendous impact on the quality of life(QOL)of *** To evaluate the awareness of patients with chronic liver disease(CLD)regarding the COVID-19 emergency and how it impacted on their *** Patients with an established diagnosis of CLD(cirrhosis,autoimmune hepatitis,primary biliary cholangitis,and primary sclerosing cholangitis)who had been evaluated at our Outpatient Liver Disease Clinic during the 6-mo period preceding the start of Italian lockdown(March 8,2020)were *** were asked to complete a two-part questionnaire,administered by telephone according to governmental restrictions:The first section assessed patients’basic knowledge regarding COVID-19,and the second evaluated the impact of the COVID-19 emergency on their *** used the Italian version of the CLD questionnaire(CLDQ-I).With the aim of evaluating possible changes in the QOL items addressed,the questionnaire was administered to patients at the time of telephone contact with the specific request to recall their QOL perceptions during two different time *** detail,patients were asked to recall these perceptions first during time 0(t0),a period comprising the 2 wk preceding the date of ministerial lockdown decree(from February 23 to March 7,2020);then,in the course of the same phone call,they were asked to recall the same items as experienced throughout time 1(t1),the second predetermined time frame encompassing the 2 wk(from April 6 to April 19)preceding our telephone contact and questionnaire *** data are expressed as number(%),and continuous variables are reported as the median(interquartile range).The data were compared using the Wilcoxon paired non-parametric *** A total of 111 patients were enrolled,of whom 81 completed the ***-nine had liver cirrhosis,and all of them had c

关键词： COVID-19 Liver disease Quality of life Liver cirrhosis Chronic liver disease questionnaire

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Applying Novel Techniques from Physical and Biological Sciences to Life Detection

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Space(Science & Technology) 2023年第1期3卷 325-338页

作者： Tony Z.Jia Chaitanya Giri andrea Aldaba Ilknur Bahcivan Nipun Chandrasiri Ilankuzhali Elavarasan Kashish Gupta Sakshi P.Khandare Christos Liaconis Arpita Saha Orlando J.Solórzano paola Ines Tiranti Aivaras Vilutis Graham E.Lau Earth-Life Science Institute Tokyo Institute of Technology2-12-1-IE-1 OokayamaMeguro-kuTokyo 152-8550Japan Blue Marble Space Institute of Science 6001st AveFloor 1SeattleWA 98104USA Research and Information System for Developing Countries(RIS) Core IV-BFourth FloorIndia Habitat CentreLodhi RoadNew Delhi 110003India Department of Physical and Natural Sciences School of Liberal EducationFLAME UniversityLavalePune 412115MaharashtraIndia School of Physical Sciences and Nanotechnology Yachay Tech University100119 UrcuquíEcuador

One of the primary goals of the space exploration community is to unambiguously detect past or present life outside of *** such,a number of so-called life detection technologies,instruments,and approaches have been applied as part of past,current,and future space *** astrobiology is a truly interdisciplinary field within the realm of space exploration with major contributions from physical and biological sciences(among others),recently there has been development of a number of relevant techniques from scientific fields that have yet to be fully applied to extraterrestrial life *** a culmination of the 2021 Blue Marble Space Institute of Science(BMSIS)Young Scientist Program(YSP),we present a number of techniques drawn from various fields(including,but not limited to,chemistry,materials science,biology,nanotechnology,medical science,astrophysics,and more)that either have been or have the potential to be applied to life detection *** techniques broadly fall under three categories:instrumentation for in situ measurements of biosignatures within the solar system,calculations or observational techniques for remote measurements of exoplanet biosignatures,and *** hope that this primer serves to inspire the field to consider applying more potential technologies from adjacent fields into any of these three categories of life detection.

关键词： signature applying outside

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Giant Calcified Renal Artery Aneurysm: Traditional RX versus Three-Dimensional Computed Tomography

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Advances in Computed Tomography 2013年第1期2卷 20-22页

作者： Mauro Gacci Omar Saleh Annalisa Mantella Leonidas Azas paola Romagnani andrea Minervini Sergio Serni Marco Carini Department of Urology University of Florence Florence Italy Department of Vascular Surgery University of Florence Florence Italy Excellence Center for Research Transfer and High Education (DENOTHE) University of Florence Florence Italy

A 65-year-old woman with no history of previous flank trauma, renal stone or upper urinary tract infections, presented for flank pain and left hydro-uretero-nephrosis seven days after hysterectomy. Percutaneous pielography revealed narowing of the distal ureter, without endoureteral mass. The plain abdomen film incidentally showed a 3-cm calcified ring on the left renal shadow, who resulted external to the collecting system at pielography. A 3-dimensional-CT scan with angiographic reconstruction revealed a 3-cm calcified renal artery aneurysm. The vascular surgeon suggested a watchful waiting. The patient underwent ureteral reimplantation with ureteral stenting, allowing a complete recovery of iatrogenic stenosis two months postoperatively.

关键词： Renal Artery Aneurysm 3D-CT Angiographic Reconstruction

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Can gender predict virological response to standard antiviral therapy for chronic hepatitis C? A retrospective study

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Hepatoma Research 2016年第1期2卷 122-130页

作者： paola Belci Alessandro Collo Maria Martorana andrea Evangelista Sara Giunti Roberto Gambino Maurizio Cassader Simona Bo Marilena Durazzo Department of Medical Sciences University of Turin10126 TurinItaly Department of Economics and Statistics“Cognetti de Martiis” University of Turin10153 TurinItaly

Aim:The liver is a sexually dimorphic organ presenting gender differences in its metabolism,functions,enzyme activity,membrane lipid composition and immune *** paper aimed to assess whether gender may predict virological response to standard antiviral therapy in subjects with chronic hepatitis C(CHC).Methods:The authors retrospectively analyzed 100 patients with genotype 1 CHC(55 men,45 women),who performed standard antiviral therapy(interferon and ribavirin for 12 months)in the period 2002-2012,evaluated with blood tests and abdominal ultrasound to compare different virological and biochemical response in both ***:Rate of substained virological response(SVR)was higher,but not significant,in women than men(46.7%vs.34.5%,P=0.05);difference became significant after stratification by age(<50 and≥50 years).Specifically in the group aged under 50 years,rate of SVR was significantly higher in women than in men(66.7%vs.38.2%,P<0.05).Conclusion:Female gender may predict virological response to standard antiviral therapy in subjects with CHC aged below 50 *** new potent and more expensive antiviral drugs actually available for HCV treatment,it could be useful to identify candidates firstly eligible to therapy.

关键词： Liver gender antiviral therapy

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