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Structural investigation of Rett-inducing MeCP2 mutations

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Genes & Diseases 2019年第1期6卷 31-34页

作者： Ottavia Spiga Simone Gardini Nicole Rossi Vittoria Cicaloni Francesco Pettini neri Niccolai Annalisa Santucci Department of Biotechnology Chemistry and PharmacyUniversity of SienaSiena53100Italy GenomeUp SRL Rome00199Italy Toscana Life Sciences Foundation(TLS) Siena 53100Italy

X-ray structure of methyl-CpG binding domain(MBD)of MeCP2,an intrinsically disordered protein(IDP)involved in Rett syndrome,offers a rational basis for defining the spatial distribution for most of the sites where mutations responsible of Rett syndrome,RTT,*** have ascribed pathogenicity for mutations of amino acids bearing positively charged side chains,all located at the protein-DNA interface,as positive charge removal cause reduction of the MeCP2-DNA adduct *** of the frequent proline replacements,outside the DNA contact moiety of MBD,can be attributed to the role of this amino acid for maintaining both unfolded states for unbound MeCP2 and,at the same time,to favor some higher conformational order for stabilizing structural determinants required by protein *** hypotheses can be extended to transcription repressor domain,TRD,the other MeCP2-DNA interaction site and,in general,to all the IDP that interact with nucleic acids.

关键词： DNA binding domains MeCP2 Mutation distribution Protein structure Rett syndrome

Liver pathology in COVID-19 related death and leading role of autopsy in the pandemic

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World Journal of Gastroenterology 2023年第1期29卷 200-220页

作者： Martina Zanon Margherita neri Stefano Pizzolitto Davide Radaelli Monica Concato Michela Peruch Stefano D'Errico Department of Medical Surgical and Health Sciences University of TriesteTrieste 34149Italy Department of Medical Sciences University of FerraraFerrara 44121Italy Department of Pathology Santa Maria della Misericordia University HospitalUdine 33100Italy

BACKGROUND Information on liver involvement in patients with coronavirus disease 2019 is currently *** To highlight the pathological changes found during the autopsy of severe acute respiratory syndrome coronavirus 2 positive *** A systematic literature search on PubMed was carried out until June 21,*** A literature review reveals that pre-existing liver disease and elevation of liver enzyme in these patients are not common;liver enzyme elevations tend to be seen in those in critical *** the poor expression of viral receptors in the liver,it seems that the virus is able to infect this organ and therefore cause liver ***,to date,the search for the virus inside the liver is not frequent(16%of the cases)and only a small number show the presence of the *** most of the autopsy cases,macroscopic assessment is lacking,while microscopic evaluation of livers has revealed the frequent presence of congestion(42.7%)and steatosis(41.6%).Less frequent is the finding of hepatic inflammation or necrosis(19%)and portal inflammation(18%).The presence of microthrombi,frequently found in the lungs,is infrequent in the liver,with only 12%of cases presenting thrombotic formations within the vascular *** To date,the greatest problem in interpreting these modifications remains the association of the damage with the direct action of the virus,rather than with the inflammation or alterations induced by hypoxia and hypovolemia in patients undergoing oxygen therapy and decompensated patients.

关键词： Liver COVID-19 Autopsy Immunohistochemistry In situ hybridization Immunofluorescence

Hepatitis C virus infection and health-related quality of life

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World Journal of Gastroenterology 2012年第19期18卷 2295-2299页

作者： Piero Amodio Laura Salari Sara Montagnese Sami Schiff Daniele neri Tonino Bianco Lina Minazzato Department of Medicine University Hospital of Padua35128 PadovaItaly Unit of Algology University Hospital of Padua35128 PadovaItaly Unit of Hepatobiliary Surgery University Hospital of Padua35128 PadovaItaly

Hepatitis C virus(HCV) hepatitis and other diseases related to HCV,such as cryoglobulinemia,lymphoma and renal failure,impair health-related quality of life(HRQoL).In addition,HCV per se might directly influence HRQoL via colonization of microglia in the brain or,indirectly,via the effect of systemic inflammatory cytokines which,in turn,can trigger brain interleukin *** treatment of HCV-related disorders with interferon(IFN) has an effect on ***,IFN causes a transient deterioration of HRQoL,due to the induction of depression and other side effects of ***,the subjects who obtain a sustained virologic response experience an improvement in *** rarely does interferon treatment causes permanent detrimental effects on HRQoL,due to residual psychiatric or neurologic side *** transplantation is the only treatment for end-stage HCV-related liver *** generally improves massively a few months after transplantation,except in the case of serious complications of the transplant ***,high levels of anxiety and neuroticism pre-transplant are associated with lower HRQoL one year after ***,six months after transplant,patients with HCV who experience virologic recurrence show significantly greater depression,anxiety,phobic anxiety,and paranoid ideation than anti-HCV-negative *** conclusion,optimal care for the overall well-being of patients with HCV infection requires adequate knowledge of their neurological and psychological status.

关键词： Hepatitis C virus Quality of life Transplan-tation Hepatitis Cirrhosis

Impact of age-related comorbidity on results of colorectal cancer surgery

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World Journal of Gastroenterology 2009年第45期15卷 5706-5711页

作者： Corrado Pedrazzani Guido Cerullo Giovanni De Marco Daniele Marrelli Alessandro neri Alfonso De Stefano Enrico Pinto Franco Roviello Department of Human Pathology and Oncology Unit of Surgical OncologyUniversity of Siena 53100 SienaItaly

AIM: To analyze the correlation between preexisting comorbidity and other clinicopathological features, short-term surgical outcome and long-term survival in elderly patients with colorectal cancer (CRC). METHODS: According to age, 403 patients operated on for CRC in our department were divided into group A (< 70 years old) and group B (≥ 70 years old) and analyzed statistically. RESULTS: Rectal localization prevailed in group A (31.6% vs 19.7%, P = 0.027), whereas the percentage of R0 resections was 77% in the two groups. Comorbidity rate was 46.2% and 69.1% for group A and B, respectively (P < 0.001), with a huge difference as regards cardiovascular diseases. Overall, postoperative morbidity was 16.9% and 20.8% in group A and B, respectively (P = 0.367), whereas mortality was limited to group B (4.5%, P = 0.001). In both groups, patients who suffered from postoperative complications had a higher overall comorbidity rate, with preexisting cardiovascular diseases prevailing in group B (P = 0.003). Overall 5-year survival rate was significantly betterfor group A (75.2% vs 55%, P = 0.006), whereas no signif icant difference was observed considering disease-specif ic survival (76.3% vs 76.9%, P = 0.674). CONCLUSION: In spite of an increase in postoperative mortality and a lower overall long-term survival for patients aged ≥ 70 years old, it should be considered that, even in the elderly group, a signif icant number of patients is alive 5 years after CRC resection.

关键词： Colorectal cancer Elderly Post-operative complications Co-morbidity Aged

Plasma erythropoietin levels in anaemic and non-anaemic patients with chronic liver diseases

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World Journal of Gastroenterology 2004年第9期10卷 1353-1356页

作者： Cosimo MarcelloBruno Sergio neri ClaudioSciacca Gaetano Bertino Pietro DiPrima Danila Cilio Luciano Caruso Raffaello Cristaldi Rinaldo Pellicano Department of Internal Medicine and Sistemic Diseases University of CataniaItaly Department of Gastro-Hepatology Molinette HospitalTorinoItaly

AIM: To investigate the serum erythropoietin (Epo) levels in patients with chronic liver diseases and to compare to subjects with iron-deficiency anaemia and healthy ***: We examined 31 anaemic (ALC) and 22 non-anaemic (NALC) cirrhotic patients, 21 non-anaemic subjects with chronic active hepatitis (CAH), 24 patients with iron-deficiency anaemia (ID) and 15 healthy controls. Circulating Epo levels (ELISA; R&D Systems, Europe Ltd, Abingdon,UK) and haemoglobin (Hb) concentration were determined in all ***: Mean±SD of Epo values was 26.9±10.8 mU/mL in ALC patients, 12.5±8.0 mU/mL in NALC subjects,11.6±6.3 mU/mL in CAH patients, 56.4±12.7 mU/mL in the cases of ID and 9.3±2.6 mU/mL in controls. No significant difference (P>0.05) was found in Epo levels between controls, CAH and NALC patients. ALC individuals had higher Epo levels (P<0.01) than these groups whereas ID subjects had even higher levels (P<0.001) than patients suffering from ***: Increased Epo values in cirrhotics, are only detectable when haemoglobin was lesser than 12 g/***, this rise in value is lower than that observed in anaemic patients with iron-deficiency and appears blunted and inadequate in comparison to the degree of anaemia.

关键词： Aged Anemia, Iron-Deficiency Erythropoietin Female Hemoglobins Hepatitis, Chronic Humans Liver Cirrhosis Male Middle Aged Regression Analysis

Complete pathological response in locally advanced non-small-cell lung cancer patient: A case report

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World Journal of Clinical Cases 2021年第20期9卷 5540-5546页

作者： Elisabetta Parisi Donatella Arpa Giuglia Ghigi Simona Micheletti Elisa neri Luca Tontini Martina Pieri Antonino Romeo Radiotherapy Unit IRCCS Istituto Scientifico Romagnolo per lo Studio dei Tumori(IRST)"Dino Amadori"Meldola 47014Italy

BACKGROUND Chemotherapy and radiotherapy followed by durvalumab is currently the standard treatment for locally advanced node-positive non-small-cell lung cancer(NSCLC).We describe the case of a patient with locally advanced node-positive NSCLC(LA-NSCLC)treated in a phase II prospective protocol with chemotherapy,accelerated hypofractionated radiotherapy(AHRT)and surgery in the preimmunotherapy *** SUMMARY A 69-year-old male,ex-smoker(20 PY),with a Karnofsky performance status of 90,was diagnosed with locally advanced squamous cell lung *** was staged by total body computed tomography(CT)scanning,and integrated 18Ffluorodeoxyglucose positron emission tomography/CT scan[cT4 cN3 cM0,stage IIIC according to TNM(tumor-node-metastasis)8th edition]and received AHRT between chemotherapy cycles,in accordance with the study protocol(EudractCT registration 2008-006525-14).At the end of the study the patient underwent surgery,which was not part of the protocol,and showed a complete pathological *** This case report confirms that AHRT can be used successfully to treat primary LA-NSCLC with bilateral mediastinal lymph node *** case is of particular interest because of the pathological response after AHRT and the lack of surgical *** hypothesize that this radiotherapeutic approach,with its proven efficacy,could be delivered as a short course reducing treatment costs,increasing patient compliance and reducing *** are currently investigating the possibility of combining hypofractionation,chemotherapy and immunotherapy for patients with LA-NSCLC.

关键词： Locally advanced non-small-cell lung cancer Hypofractionated radiotherapy Chemoradiotherapy Complete pathological response Immunotherapy Case report

Nitrogen Release from Slow-Release Fertilizers in Soils with Different Microbial Activities

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Pedosphere 2018年第2期28卷 332-340页

作者： Pierfrancesco NARDI Ulderico neri Giovanni DI MATTEO Alessandra TRINCHERA Rosario NAPOLI Roberta FARINA Guntur V. SUBBARAO Anna BENEDETTI CREA-Council for Agricultural Research and Economics Research Center for Agriculture and Environment Via della Navicella 2Rome 00184 (Italy) Japan International Research Center for Agricultural Sciences (JIRCAS) Tsukuba 305-8686 (Japan)

Soil microbial activity is recognized as an important factor affecting nitrogen (N) release from slow-release fertilizers. However,studies on the effect of size and activity of soil microflora on fertilizer degradation have provided contrasting results. To date, no clear relationships exist between soil microbial activity and the release of N from slow-release fertilizers. Hence, the aim of this study was to better understand such relationships by determining the release of N from three slow-release fertilizers in soils with different microbial activities. Soils were amended with urea-formaldehyde (UF), isobutylidene diurea (IBDU), and crotonylidene diurea (CDU). Urea, a soluble fertilizer, was used as the control. Fertilized soil samples were placed in a leaching system, and the release of N was determined by measuring ammonium-N and nitrate-N concentrations in leachates during 90 d of incubation. Non-linear regression was used to fit N leaching rate to a first-order model. In all the treated soils, N was released in the order: urea (89%–100%) > IBDU (59%–94%) >UF (46%–73%) > CDU (44%–56%). At the end of incubation, N released from CDU did not differ (P > 0.05) among soils. On the contrary, UF and IBDU released significantly lower (P < 0.05) amounts of N in the soil with higher microbial activity and lower *** rate constant (K_0) for UF was lower (P < 0.05) in the soil with lower pH. Taken together, our results indicated that soil microbial size and microbial activity had a marginal effect on fertilizer mineralization.

关键词： ammonium-N crotonylidene diurea isobutylidene diurea nitrate-N non-linear regression urea-formaldehyde

Can the computed tomography texture analysis of colorectal liver metastases predict the response to first-line cytotoxic chemotherapy?

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World Journal of Hepatology 2022年第1期14卷 244-259页

作者： Etienne Rabe Dania Cioni Laura Baglietto Marco Fornili Michela Gabelloni Emanuele neri Academic Radiology Master in Oncologic ImagingDepartment of Translational ResearchUniversity of PisaPisa 56126Italy Bay Radiology-Cancercare Oncology Centre Bay RadiologyPort Elizabeth 6001Eastern CapeSouth Africa Department of Clinical and Experimental Medicine University of PisaPisa 56126Italy

BACKGROUND Artificial intelligence in radiology has the potential to assist with the diagnosis,prognostication and therapeutic response prediction of various cancers.A few studies have reported that texture analysis can be helpful in predicting the response to chemotherapy for colorectal liver metastases,however,the results have *** metastases were not clearly excluded in these studies and in most studies the full range of texture analysis features were not *** study was designed to determine if the computed tomography(CT)texture analysis results of non-necrotic colorectal liver metastases differ from previous reports.A larger range of texture features were also evaluated to identify potential new *** To identify potential new imaging biomarkers with CT texture analysis which can predict the response to first-line cytotoxic chemotherapy in non-necrotic colorectal liver metastases(CRLMs).METHODS Patients who presented with CRLMs from 2012 to 2020 were retrospectively selected on the institutional radiology information system of our private radiology *** inclusion criteria were non-necrotic CRLMs with a minimum size of 10 mm(diagnosed on archived 1.25 mm portal venous phase CT(FOLFOX,FOLFIRI,FOLFOXIRI,CAPE-OX,CAPE-IRI or capecitabine).The final study cohort consisted of 29 *** treatment response of the CRLMs was classified according to the RECIST 1.1 *** means of CT texture analysis,various first and second order texture features were extracted from a single nonnecrotic target CRLM in each responding and non-responding *** between features and response to chemotherapy were assessed by logistic regression *** prognostic accuracy of selected features was evaluated by using the area under the *** There were 15 responders(partial response)and 14 non-responders(7 stable and 7 with progressive disease).The responders presented with a higher number of CRLMs(P=0.05).In univariable an

关键词： Colorectal cancer Liver metastases Radiomics Computed tomography texture analysis Response assessment

Plant diversity and community structure of Brazilian Páramos

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Journal of Mountain Science 2018年第6期15卷 1186-1198页

作者： Prímula Viana CAMPOS Pedro Manuel VILLA Jaquelina Alves NUNES Carlos E.G.R.SCHAEFER Stefan POREMBSKI Andreza Viana neri Federal University of Vicosa Department of Plant Biology Laboratory of Ecology and Evolution of Plants Campus Universitdrio 36570-900 Vicosa Minas Gerais Brazil Foundation for the Conservation of Biodiversity 7101 Merida Venezuela Minas Gerais State University Rua dos estudantes 23 Santa Emilia 36800-000 Carangola Minas Gerais Brazil 4 Federal University of Vicosa Department of Soil Campus Universit（lrio 36570-900 Vicosa Minas Gerais Brazil 5 University of Rostock Institute of Bioseience Department of Botany Wismarsehe Str. 44/45 D-18051 Rostoek Germany

In Eastern South America, high altitude grasslands represent a mountain system that has a high number of endemic species. However, studies on the ecology of plant communities in these environments remain scarce. We aimed to evaluate the patterns of biodiversity and structure of plant communities from rocky outcrops in high altitude grasslands of three areas at the Caparaó National Park, southeastern Brazil, by sampling 300 randomly distributed plots. Then, we compared the floristic composition, relative abundance, and biological and vegetation spectra among areas. We classified species as endemic and non-endemic and verified the occurrence of endangered species. Species richness was evaluated by rarefaction analysis on the sampling units. The importance value and species abundance distribution(SAD) models were assessed. We also performed an indicator species analysis. We sampled 58 species belonging to 49 genera and 32 families. The number of species decreased with increasing altitude, with significant differences being observed among areas regarding richness, abundance, and cover. Of the total number of species, 10 are endemic to the Caparaó National Park and 17 are listed on the Brazilian Red List of endangered species. The dominant families on all peaks were Asteraceae and Poaceae. The SAD models showed lognormal and geometric distributions, corroborating the fact that 10 species that were common to all three areas were also the most dominant ones in the communities and showed the highest importance values, which ranged between 35% and 60%. Indicator species analysis revealed that 28 species(48.27%) were indicators. Of these, 42.85% had maximum specificity, meaning that they occurred only in one area. Thus, the number of species per life form ratio was similar among areas, yet vegetation spectra differed, especially for hemicryptophytes. The altimetric difference among the areas showed to be a very important driver in the community assembly, influencing the evalu

关键词： Rock outcrops High altitude grasslands Species abundance distribution Species richness