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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

Adherence to Pharmacotherapy in Post-Menopausal Women with Hypertension or Metabolic Syndrome: Real World Experience

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International Journal of Clinical Medicine 2024年第3期15卷 145-154页

作者： maria Maiello francesca Amati Vincenzo Ezio Santobuono Andrea Igoren Guaricci Cinzia Forleo Marco Matteo Ciccone Pasquale Palmiero Department of Cardiology ASL BR SSN3 Brindisi Italy Cardiovascular Diseases Section Interdisciplinary Department of Medicine (DIM) University of Bari “Aldo Moro” Bari Italy

Background: Adherence to medications is dependent upon a variety of factors, including individual characteristics of the patient, interactions with health care providers, and medication complexity. Even though several studies were conducted to test intervention strategies, results are uncertain. Aim: The aim of the study is to assess if a tailored combined intervention strategy improves medication adherence in a large population of post-menopausal women affected by hypertension or metabolic syndrome. Methods: We enrolled 6833 patients aged 50 to 69 years, 85.7% with hypertension, and 14.3% with metabolic syndrome. A network between patients, general practitioners, and cardiologists was established. Interventions included education, adequate information to patients, a simplified scheme of treatment, and periodic adherence assessment. These were either delivered as healthcare provider supports or using modern technology. Medication adherence was estimated by the proportion of days covered for all classes of drugs after the index date. Results: Non-adherent hypertensive women were 297 (5%), and those with metabolic syndrome were 73 (7.4%) (p Conclusions: The rate of non-adherence in both settings of postmenopausal women was 7.7%, much lower than that described in the literature. This rate was increased in patients with metabolic syndrome;probably it is related to the complexity of the therapeutic scheme or to a poor consciousness of the disease. Therefore, implementing a tailored combined intervention can improve significantly patients’ adherence to medical therapy.

关键词： Adherence Cardiovascular Prevention Postmenopausal Women Hypertensive Metabolic Syndrome

This pain drives me crazy:Psychiatric symptoms in women with interstitial cystitis/bladder pain syndrome

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World Journal of Psychiatry 2024年第6期14卷 954-984页

作者： marianna Mazza Stella Margoni Giuseppe Mandracchia Guglielmo Donofrio Alessia Fischetti Georgios D Kotzalidis Giuseppe Marano Alessio Simonetti Delfina Janiri Lorenzo Moccia Ilaria Marcelli Greta Sfratta Domenico De Berardis Ottavia Ferrara Evelina Bernardi Antonio Restaino Francesco maria Lisci Antonio maria D'Onofrio Caterina Brisi Flavia Grisoni Claudia Calderoni Michele Ciliberto Andrea Brugnami Sara Rossi maria Chiara Spera Valeria De Masi Ester maria Marzo francesca Abate Gianluca Boggio maria Benedetta Anesini Cecilia Falsini Anna Quintano Alberto Torresi Miriam Militenda Giovanni Bartolucci Marco Biscosi Sara Ruggiero Luca Lo Giudice Giulia Mastroeni Elisabetta Benini Luca Di Benedetto Romina Caso Francesco Pesaresi Francesco Traccis Luca Onori Luca Chisari Leonardo Monacelli mariateresa Acanfora Eleonora Gaetani Monia Marturano Sara Barbonetti Elettra Specogna francesca Bardi Emanuela De Chiara Gianmarco Stella Andrea Zanzarri Flavio Tavoletta Arianna Crupi Giulia Battisti Laura Monti Giovanni Camardese Daniela Chieffo Antonio Gasbarrini Giovanni Scambia Gabriele Sani Department of Neurosciences Fondazione Policlinico Universitario A Gemelli IRCCSUniversita Cattolica del Sacro CuoreRome 00168Italy Department of Psychiatry UniversitàCattolica del Sacro CuoreRome 00168Italy Department of Neurosciences Section of PsychiatryFondazione Policlinico Universitario Agostino Gemelli IRCCSUniversitàCattolica del Sacro CuoreRome 00168Italy Mental Health NHSASL 4 TeramoTeramo 64100Italy Medical and Surgical Sciences UniversitàCattolica del Sacro CuoreRome 00168Italy Division of Gynecologic Oncology UniversitàCattolica del Sacro CuoreRome 00168Italy UOS Psicologia Clinica Governo ClinicoFondazione Policlinico Universitario Agostino Gemelli IRCCSRome 00168Italy CEMAD Digestive Disease Center Fondazione Policlinico Universitario A.Gemelli-IRCCSRome 00168Italy Department of Woman and Child Health Catholic UniversityRome 00168Italy UOC Psichiatria Clinica e d’Urgenza Dipartimento di Scienze Dell’InvecchiamentoNeurologicheOrtopediche e Della Testa-colloFondazione Policlinico Universitario Agostino Gemelli IRCCSRome 00168Italy

BACKGROUND Interstitial cystitis/bladder pain syndrome(IC/BPS)is an at least 6-mo noninfectious bladder inflammation of unknown origin characterized by chronic suprapubic,abdominal,and/or pelvic *** the term cystitis suggests an inflammatory or infectious origin,no definite cause has been *** occurs in both sexes,but women are twice as much *** To systematically review evidence of psychiatric/psychological changes in persons with IC/*** Hypothesizing that particular psychological characteristics could underpin IC/BPS,we investigated in three databases the presence of psychiatric symptoms and/or disorders and/or psychological characteristics in patients with IC/BPS using the following strategy:("interstitial cystitis"OR"bladder pain syndrome")AND("mood disorder"OR depressive OR antidepressant OR depression OR depressed OR hyperthymic OR mania OR manic OR rapid cyclasterisk OR dysthymiasterisk OR dysphoriasterisk).RESULTS On September 27,2023,the PubMed search produced 223 articles,CINAHL 62,and the combined PsycLIT/PsycARTICLES/PsycINFO/Psychology and Behavioral Sciences Collection search *** on *** produced 14 studies,of which none had available *** were peer-reviewed articles reporting psychiatric/psychological symptoms in patients with IC/BPS,i.e.63 articles spanning from 2000 to October *** studies identified depression and anxiety problems in the IC/BPS population,along with sleep problems and the tendency to *** Psychotherapies targeting catastrophizing and life stress emotional awareness and expression reduced perceived pain in women with IC/*** concepts should be considered when implementing treatments aimed at reducing IC/BPS-related pain.

关键词： Interstitial cystitis/bladder pain syndrome Psychiatric symptoms Psychological symptoms Catastrophizing Anxiety Depression

Aberrant Notch signaling in gliomas: a potential landscape of actionable converging targets for combination approach in therapies resistance

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Cancer Drug Resistance 2022年第4期5卷 939-953页

作者： maria D’Amico francesca De Amicis Department of Pharmacy Health and Nutritional SciencesUniversity of CalabriaVia P.BucciRende 87036Italy Health Center University of CalabriaVia P.BucciRende 87036Italy.

The current therapeutic protocols and prognosis of gliomas still depend on clinicopathologic and radiographiccharacteristics. For high-grade gliomas, the standard of care is resection followed by radiotherapy plustemozolomide chemotherapy. However, treatment resistance develops due to different mechanisms, among whichis the dynamic interplay between the tumor and its microenvironment. Different signaling pathways cause theproliferation of so-called glioma stem cells, a minor cancer cell population with stem cell-like characteristics andaggressive phenotype. In the last decades, numerous studies have indicated that Notch is a crucial pathway thatmaintains the characteristics of resistant glioma stem cells. Data obtained from preclinical models indicate thatdownregulation of the Notch pathway could induce multifaceted drug sensitivity, acting on the expression of drugtransporterproteins, inducing epithelial–mesenchymal transition, and shaping the tumor microenvironment. Thisreview provides a brief overview of the published data supporting the roles of Notch in drug resistance anddemonstrates how potential novel strategies targeting Notch could become an efficacious action to improve thetherapy of high-grade glioma to overcome drug resistance.

关键词： Tumor microenvironment notch inhibitors stem cells brain tumors drug resistance

Melatonin,tunneling nanotubes,mesenchymal cells,and tissue regeneration

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Neural Regeneration Research 2023年第4期18卷 760-762页

作者： francesca Luchetti Silvia Carloni maria G.Nasoni Russel J.Reiter Walter Balduini Department of Biomolecular Sciences University of Urbino Carlo BoUrbinoItaly Department of Cell Systems and Anatomy Long School of MedicineUT HealthSan AntonioTXUSA

Mesenchymal stem cells are multipotent stem cells that reside in many human tissues and *** stem cells are widely used in experimental and clinical regenerative medicine due to their capability to transdifferentiate into various ***,when transplanted,they lose part of their multipotency and immunomodulatory properties,and most of them die after injection into the damaged *** this review,we discuss the potential utility of melatonin in preserving mesenchymal stem cells’survival and function after *** is a pleiotropic molecule regulating critical cell functions including apoptosis,endoplasmic reticulum stress,and *** is also synthesized in the mitochondria where it reduces oxidative stress,the opening of the mitochondrial permeability transition pore and the downstream caspase activation,activates uncoupling proteins,and curtails the proinflammatory *** addition,recent findings showed that melatonin also promotes the formation of tunneling nanotubes and the transfer of mitochondria between cells through the connecting *** mitochondrial dysfunction is a primary cause of mesenchymal stem cells death and senescence and a critical issue for survival after transplantation,we propose that melatonin by favoring mitochondria functionality and their transfer through tunneling nanotubes from healthy to suffering cells could improve mesenchymal stem cellbased therapy in a large number of diseases for which basic and clinical trials are underway.

关键词： brain ischemia cell transplantation melatonin mesenchymal stem cell mitochondria mitochondrial transplantation regenerative therapy senescence tunneling nanotubes

From landslide characterization to nature reserve management:The“Scialimata Grande di Torre Alfina”landslide Geosite(Central Apennines,Italy)

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山地科学学报（英文） 2023年第3期20卷 585-606页

作者： Gianluca TRONTI francesca VERGARI Irene maria BOLLATI Filippo BELISARIO Maurizio DELMONTE Manuela PELFINI Paola FREDI Earth Sciences Department"Ardito Desio" University La StataleMilan 20133(MI)Italy Monte Rufeno Nature Reserve Acquapendente 01021(VT)Italy Earth Sciences Department University La SapienzaRome 00185(RM)Italy

Italy is characterized by widespread geomorphological instability,among which landslides leave impressive marks on the ***,landslide bodies may represent key sites for thematic and educational itineraries,especially in protected areas,where their management becomes an important *** study focuses on the"Monte Rufeno Nature Reserve"(Central Apennines,Italy),where iconic landslides are ***,the"Scialimata Grande di Torre Alfina"landslide(SGTA)is listed in the regional Geosite *** work aims to propose a multiscale procedure for landslide analysis,in terms of both hazard sources but also educational and geoheritage enhancement opportunities in natural *** performing a Landslide Susceptibility conditional Analysis(LSA)for the reserve territory,attention was focused on the SGTA,to define properly its features and morphodynamics.A multi-disciplinary approach was adopted,by applying both remote sensing(UAV structure from motion,Photointerpretation)and field survey(geomorphological and GPS monitoring).From the LSA,based on drainage density,curvature,and slope triggering factors,the road and trail susceptibility maps were derived,as base tools for future risk assessments and trail paths management within the *** the SGTA scale,the monitoring showed a displacement of up to 23 m during the time interval between 2015 and *** landslide dynamics seem to be driven by alternating dry and extremely wet periods;moreover,leaks from the aqueduct in the detachment area and piping effects through clays may have also decreased the substrate *** SGTA complex influence on the Paglia River valley geometry was also hypothesized,underlining the action of landslide through different spatial scales(on-site and off-site)and on different environment features(sediment connectivity,hydrology).Finally,the SGTA appears highly representative of the geomorphic dynamics within the Nature Reserve(i.e.,scientific value)and it could be

关键词： Landslides Geoheritage Geosites Nature reserves management UAV structure from motion Landslides conditional analyses

Occurrence and patterns of nutritional traits and polycyclic aromatic hydrocarbons(PAHs)in sea cucumber(Holothuria poli)tissues:benefits and risk for human health

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Food Quality and Safety 2022年第2期6卷 287-309页

作者： francesca Biandolino Isabella Parlapiano Lucia Spada Antonella Di Leo maria Calo Giovanni Fanelli Ermelinda Prato Santina Giandomenico CNR-IRSA National Research CouncilWater Research Institute--Via Roma 3TarantoItaly

Objectives:The paper evaluates the benefit and risk for human health associated with consumption of sea cucumber Holothuria poli(*** from Italian coasts(Central Mediterranean Sea).Materials and Methods:Body wall(BW),internal tunic(ITu),muscle bands(MBs),alimentary canal(AC),gonad(Gd),and respiratory tree(RT)of *** were analyzed for proximate ***,amino acids(AAs),fatty acids(FAs)and polycyclic aromatic hydrocar bons(PAHs)were determined with high-performance liquid chromatography coupled with ultraviolet-visible spectroscopy(UPLC UV/Vis),gas chromatography-flame ionization detector(GC-FID)and gas chromatography mass spectrometry(GC-MS),***:Differences in the contents of total amino acids(TAAs)occurred based on tissue and sex,with AC and MB of female and Gd of male showing higher contents(range 47.8-60.2 g/kg we weight(ww)).Glycine and glutamic acid were the most *** fatty acid(PUFA)was the major class of FAs and arachidonic acid and eicosapentenoic acid(EPA)were the predominant PUFA.n-3 PUFA showed higher content in Gd,AC,and RT,indicating higher quality.A favorable n-3/n-6 in the range of 1.04-1.67 was *** showed values ranging from 23 to 207μg/kg ww with the highest levels in Gd and AC tissues and the lower in ***[alpyrene,the most toxic compound,was detected in all tissues,of both sexes,at levels of 1.5-18μg/kg ***:All tissues of ***,although with differences among them,are valuable food and can contribute for a healthy *** cancer risk(CR)values for Gd and AC tissues were above the considerable CR threshold of one in 10000 established by the United States Environmental Protection Agency(USEPA)for high ingestion rate of this seafood.

关键词： Holothuria poli,nutitional quality polycyclic aromatic hydrocarbons risk assessment estimated weekly intake cancer risk

Which octogenarian patients are at higher risk after cholecystectomy for symptomatic gallstone disease? A single center cohort study

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World Journal of Clinical Cases 2022年第24期10卷 8556-8567页

作者： Fabrizio D'Acapito Leonardo Solaini Daniela Di Pietrantonio francesca Tauceri maria Teresa Mirarchi ElenaAntelmi francesca Flamini Alessio Amato Massimo Framarini Giorgio Ercolani Department of General and Oncologic Surgery Morgagni-Pierantoni HospitalAUSL RomagnaForlì47121Italy Department of Medical and Surgical Sciences University of BolognaBologna 40126Italy

BACKGROUND Incidence of gallstones in those aged≥80 years is as high as 38%-53%.The decision-making process to select those oldest old patients who could benefit from cholecystectomy is *** To assess the risk of morbidity of the“oldest-old”patients treated with cholecystectomy in order to provide useful data that could help surgeons in the decision-making process leading to surgery in this *** A retrospective study was conducted between 2010 and *** variables were collected and compared between patients who had postoperative complications.A model was created and tested to predict severe postoperative *** The 269 patients were included in the study(193 complicated).The 9.7%of complications were grade 3 or 4 according to the Clavien-Dindo *** levels were lower in patients who did not have any postoperative *** Society of Anesthesiologists scale 4 patients,performing a choledocholithotomy and bilirubin levels were associated with Clavien-Dindo>2 complications(P<0.001).The decision curve analysis showed that the proposed model had a higher net benefit than the treating all/none options between threshold probabilities of 11%and 32%of developing a severe *** Patients with American Society of Anesthesiologists scale 4,higher level of bilirubin and need of choledocholithotomy are at the highest risk of a severely complicated postoperative *** endoscopic or percutaneous treatments should be considered in this subgroup of octogenarians.

关键词： Cholecystitis Gallstones Choledocholithotomy Elderly Post-operative complications

Rifabutin as salvage therapy for Helicobacter pylori eradication:Cornerstones and novelties

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World Journal of Gastroenterology 2022年第45期28卷 6356-6362页

作者： Antonia Valeria Borraccino francesca Celiberto maria Pricci Bruna Girardi Andrea Iannone maria Rendina Enzo Ierardi Alfredo Di Leo Giuseppe Losurdo Section of Gastroenterology Department of Emergency and Organ TransplantationUniversity of BariBari 70124Italy THD SpA Correggio 42015Italy

When several Helicobacter pylori eradication treatments fail,guidelines recommend a cultured guided approach;however,culture is not widely ***,a rifabutin based regimen could be the best *** indeed shows a low rate of antibiotic *** is generally used in combination with amoxicillin in a triple therapy,with eradication rates about 80%in third-line *** ideal duration of this therapy should range between 10 and 12 *** with antibiotics other than amoxicillin have demonstrated even better results,such as vonoprazan,which is a type of novel acid suppressor ***,a new formulation of triple therapy in a single capsule is under investigation,which is a field that deserves further *** notes of caution about rifabutin should be *** drug is used to treat tuberculosis or atypical mycobacteria;therefore,before starting a rifabutin-based eradication regimen,Mycobacterium tuberculosis infection should be thoroughly tested,since its use could promote the development of antibiotic resistance,thus affecting its effectiveness against Koch’s ***,some serious side effects must be evaluated before starting any rifabutin-based *** effects include fever,nausea,vomiting and bone marrow *** this reason,full blood count surveillance is required.

关键词： Helicobacter pylori Eradication Rifabutin Antibiotic resistance Rescue therapy Treatment