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Journal of Tuberculosis Research 2021年第3期9卷 219-229页

作者： Annalisa Del Giudice rossella perna Teresa Baldoni Francesco Scarano Annunziata De Rosa Agostina Pontarelli Mario De Marco Martha Alicia Falca Clelia Di Tella Luigi Atripaldi Sergio Alfonso Harari Andrea Bianco Roberto Parrella UOC Microbiologia e Virologia Hospital Cotugno AORN Ospedali dei Colli Naples Italy UOC Respiratory Infectious Diseases Unit Hospital Cotugno AORN Ospedali dei Colli Naples Italy Department of Medical Sciences San Giuseppe Hospital MultiMedica IRCCS and Department of Clinical Sciences and Community Health University of Milan Milan Italy Department of Translational Medical Sciences University of Campania “L. Vanvitelli”/Hospital Monaldi Naples Italy

Background: Extrapulmonary tuberculosis (EPTB) remains difficult to diagnose because the clinical specimens to be examined are often paucibacillary and obtained with difficulty from inaccessible sites. An updated Xpert® MTB/RIF Ultra (Ultra) test has been designed and licensed to improve sensitivity in the detection of Mycobacterium tuberculosis complex. The aim of the present study is to evaluate the performance of Ultra assay for the clinical diagnosis of EPTB in a low tuberculosis prevalence country. Methods: A retrospective analysis was performed at “A. O dei Colli” of Naples on consecutive extrapulmonary specimens for EPTB across a three-year period. All different types of extrapulmonary specimens were tested for EPTB by smear microscopy, culture and Ultra assay in accordance with relevant guidelines.

关键词： Extrapulmonary Tuberculosis Molecular Diagnosis Mycobacterium tuberculosis Xpert® MTB/RIF Ultra

TICA: Transcriptional Interaction and Coregulation Analyzer

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Genomics, Proteomics & Bioinformatics 2018年第5期16卷 342-353页

作者： Stefano perna Pietro Pinoli Stefano Ceri Limsoon Wong Dipartimento di Elettronica Informazione e Bioingegneria Politecnico di Milano School of Computing National University of Singapore

Transcriptional regulation is critical to cellular processes of all organisms. Regulatory mechanisms often involve more than one transcription factor(TF) from different families, binding together and attaching to the DNA as a single complex. However, only a fraction of the regulatory partners of each TF is currently known. In this paper, we present the Transcriptional Interaction and Coregulation Analyzer(TICA), a novel methodology for predicting heterotypic physical interaction of TFs. TICA employs a data-driven approach to infer interaction phenomena from chromatin immunoprecipitation and sequencing(ChIP-seq) data. Its prediction rules are based on the distribution of minimal distance couples of paired binding sites belonging to different TFs which are located closest to each other in promoter regions. Notably, TICA uses only binding site information from input ChIP-seq experiments, bypassing the need to do motif calling on sequencing data. We present our method and test it on ENCODE ChIP-seq datasets, using three cell lines as reference including HepG2, GM12878, and K562. TICA positive predictions on ENCODE ChIP-seq data are strongly enriched when compared to protein complex(CORUM) and functional interaction(BioGRID) databases. We also compare TICA against both motif/ChIP-seq based methods for physical TF–TF interaction prediction and published literature. Based on our results, TICA offers significant specificity(average 0.902) while maintaining a good recall(average 0.284) with respect to CORUM, providing a novel technique for fast analysis of regulatory effect in cell lines. Furthermore, predictions by TICA are complementary to other methods for TF–TF interaction prediction(in particular, TACO and CENTDIST). Thus, combined application of these prediction tools results in much improved sensitivity in detecting TF–TF interactions compared to TICA alone(sensitivity of 0.526 when combining TICA with TACO and 0.585 when combining with CENTDIST)with little compromise

关键词： Transcription factors Coregulation Protein–protein interactions Machine learning Data-driven analysis

Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes

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Neural Regeneration Research 2020年第9期15卷 1757-1766页

作者： Massimo Santoro Roberto Piacentini Alessia perna Eugenia Pisano Anna Severino Anna Modoni Claudio Grassi Gabriella Silvestri IRCCS Fondazione Don Carlo Gnocchi MilanItaly Department of Neuroscience Universita Cattolica del Sacro CuoreRomeItaly Department of Cardiovascular and Thoracic Sciences Universita Cattolica del Sacro CuoreRomeItaly Fondazione Policlinico Universitario A.Gemelli IRCCS RomeItaly

Myotonic dystrophy type 1(DM1) is a spliceopathy related to the mis-splicing of several genes caused by sequestration of nuclear transcriptional RNA-binding factors from non-coding CUG repeats of DMPK pre-mRNAs. Dysregulation of ryanodine receptor 1(RYR1), sarcoplasmatic/endoplasmatic Ca^2+-ATPase(SERCA) and α1 S subunit of voltage-gated Ca^2+ channels(Cav1.1) is related to Ca^2+ homeostasis and excitation-contraction coupling impairment. Though no pharmacological treatment for DM1 exists, aberrant splicing correction represents one major therapeutic target for this disease. Resveratrol(RES, 3,5,4′-trihydroxy-trans-stilbene) is a promising pharmacological tools for DM1 treatment for its ability to directly bind the DNA and RNA influencing gene expression and alternative splicing. Herein, we analyzed the therapeutic effects of RES in DM1 myotubes in a pilot study including cultured myotubes from two DM1 patients and two healthy controls. Our results indicated that RES treatment corrected the aberrant splicing of RYR1, and this event appeared associated with restoring of depolarization-induced Ca^2+ release from RYR1 dependent on the electro-mechanical coupling between RYR1 and Cav1.1. Interestingly, immunoblotting studies showed that RES treatment was associated with a reduction in the levels of CUGBP Elav-like family member 1, while RYR1, Cav1.1 and SERCA1 protein levels were unchanged. Finally, RES treatment did not induce any major changes either in the amount of ribonuclear foci or sequestration of muscleblind-like splicing regulator 1. Overall, the results of this pilot study would support RES as an attractive compound for future clinical trials in DM1. Ethical approval was obtained from the Ethical Committee of IRCCS Fondazione Policlinico Universitario A. Gemelli, Rome, Italy(rs9879/14) on May 20, 2014.

关键词： alternative splicing calcium homeostasis CUG-BP1 foci MBNL1 myotonic dystrophy type 1 myotubes resveratrol

Stepwise approach and surgery for gallbladder adenomyomatosis: a mini-review

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Hepatobiliary & Pancreatic Diseases International 2013年第2期12卷 136-142页

作者： Gianluca Pellino Guido Sciaudone Giuseppe Candilio Giuseppe perna Antonio Santoriello Silvestro Canonico Francesco SelvaggiAuthor Unit of General and Geriatric Surgery School of Medicine Second University of Naples

BACKGROUND: Gallbladder adenomyomatosis (GBA) is a hyperplastic disease affecting the wall of the gallbladder, with some typical features. It has historically been considered a benign condition, nevertheless recent reports highlighted a potential role of GBA in predisposing to malignancies of the gallbladder. DATA SOURCES: We reviewed the literature concerning GBA from its identification until July 2012. Owing to the relative rarity of the disease, studies often are case reports or case series. Thus we herein report a summary of the key-points concerning diagnosis and treatment of GBA, easily applicable in everyday practice, rather than a systematic review. Also, results are integrated with our recent experience. RESULTS: In our experience, we observed a trend toward an increase of GBA during the last years, probably due to enhanced ultrasonographic technical advancements and physician’s expertise. GBA has distinctive imaging features. Several recent reports highlight the potential risk of cancer associated with GBA; however the disease is still classified as a benign condition. Although its correlation with malignancy has not been demonstrated, it is prudent to recommend cholecystectomy in some cases. However, in selected asymptomatic patients, a wait-and-see policy is a viable alternative. We propose an algorithm, based on GBA pathological pattern (diffuse, segmental, localized or fundal), suitable for ***: In symptomatic patients and if the diagnosis is doubtful, cholecystectomy is mandatory. Postponing surgery is an option to be offered to asymptomatic patients with low-risk GBA pattern who adhere to scheduled follow-ups.

关键词： gallbladder adenomyomatosis gallbladder carcinoma cholecystectomy ultrasonography

Two-stage surgical treatment for septic non-union of the forearm

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World Journal of Orthopedics 2017年第6期8卷 471-477页

作者： Fabrizio perna Federico Pilla Matteo Nanni Lisa Berti Giada Lullini Francesco Traina Cesare Faldini Istituto Ortopedico Rizzoli

AIM To investigate the effectiveness of a two-stage surgical procedure for the treatment of septic forearm *** Septic non-unions are rare complications of forearm fractures. When they occur, they modify the relationship between forearm bones leading to a severe functional impairment. Treatment is challenging and surgery and antibiotic therapy are required to achieve infection resolution. It is even harder to obtain non-union healing with good functional results. The aim of this study is to present a two stages surgical treatment for septic forearm non-union with revision and temporary stabilization of the non-union until infection has cleared and subsequently perform a new synthesis with plate, opposite bone graft strut and intercalary graft. We retrospectively reviewed 18 patients with a mean age at the time of primary injury of 34.5 years(19-57 years) and a mean follow-up of 6 years(2-10 years). All patients presented an atrophic nonunion with a mean length of the bone defect of 1.8 cm(1.2-4 cm). Complications and clinical results after surgical treatment were recorded. RESULTS Mean time to resolution of the infectious process was 8.2 wk(range 4-20 wk) after the first surgery and specific antibiotic therapy. All the non-union healed with an average time of 5 mo(range 2-10 mo) after the second step surgery. Cultures on intraoperative samples werepositive in all cases. No major intraoperative complications occurred. Two patients developed minor complications and one needed a second surgical debridement for infection resolution. At the last follow-up functional results were excellent in 5(27.8%) patients, satisfactory in 10(55.5%) and unsatisfactory in 3(16.7%) patients. No activities of daily living(ADLs) limitations were reported by 12(66.6%) patients, slight by 3(16.6%) and severe limitation by 3(16.6%) patients. Mean visual analog scale at the last follow-up was 1(0-3).CONCLUSION The two-step technique has proven to be effective to achieve resolutio

关键词： Forearm fractures Non-union Delayed union Infection Open fracture External fixation Bone graft

Optimization of UMTS Network Planning Using Genetic Algorithms

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Communications and Network 2010年第3期2卷 193-199页

作者： Fabio Garzia Cristina perna Roberto Cusani 不详

The continuously growing of cellular networks complexity, which followed the introduction of UMTS technology, has reduced the usefulness of traditional design tools, making them quite unworthy. The purpose of this paper is to illustrate a design tool for UMTS optimized net planning based on genetic algorithms. In particular, some utilities for 3G net designers, useful to respect important aspects (such as the environmental one) of the cellular network, are shown.

关键词： UMTS Network Planning Genetic Algorithms

Ad Hoc Network Hybrid Management Protocol Based on Genetic Classifiers

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Wireless Engineering and Technology 2010年第2期1卷 69-80页

作者： Fabio Garzia Cristina perna Roberto Cusani 不详

The purpose of this paper is to solve the problem of Ad Hoc network routing protocol using a Genetic Algorithm based approach. In particular, the greater reliability and efficiency, in term of duration of communicatio... 详细信息

关键词： Ad Hoc Networks Genetic Algorithms Genetic Classifier Systems Routing Protocols Rule-Based Processing

Very low calorie ketogenic diet and common rheumatic disorders:A case report

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World Journal of Clinical Cases 2023年第9期11卷 1985-1991页

作者： Mariangela Rondanelli Zaira Patelli Clara Gasparri Francesca Mansueto Cinzia Ferraris Mara Nichetti Tariq A Alalwan Ignacio Sajoux Roberto Maugeri Simone perna Department of Public Health Experimental and Forensic MedicineUnit of Human and Clinical NutritionIRCCS Mondino FoundationPavia 27100Italy Endocrinology and Nutrition Unit Azienda di Servizi alla Persona"Istituto Santa Margherita"University of PaviaPavia 27100Italy Food Education and Sport Nutrition Laboratory Department of Public HealthExperimental and Forensic MedicineUniversity of PaviaPavia 27100Italy Department of Biology College of ScienceUniversity of BahrainSakhir 32038Bahrain Chief Scientific Office Medical Department Pronokal GroupBarcelona 08001Spain Medical Direction PronoKal GroupSavigliano 12038Italy

BACKGROUND The scientific literature provides evidence that nutritional ketosis can be an important support in the treatment of pathologies in which inflammation is present,as recent studies have shown that ketone bodies have anti-inflammatory activity in numerous diseases,including rheumatic *** report the case of a 22-year-old woman with class I obesity and juvenile idiopathic arthritis who started treatment with a very low calorie ketogenic diet(VLCKD).CASE SUMMARY The patient was a 22-year-old woman diagnosed with juvenile idiopathic arthritis at age 4 years and with a body mass index(BMI)of 30.8 kg/m2,waist circumference(WC)80 cm,fat mass(FM)28.1 kg,free FM 45.7 kg,and visceral adipose tissue(VAT)3.5 kg,assessed on bioimpedance *** was treated using a commercial VLCKD weight-loss program(PNK®method);this program provides high-biological-value protein preparations and natural *** protein preparation contains 15 g protein,4 g carbohydrate,3 g fat,and 50 mg omega-3 docosahexaenoic acid,with an energy content of 90–120 *** four months on the program,the BMI was 28.6 kg/m2,WC 73 cm,FM 23.2 kg,free FM 41.9 kg,and VAT 2.9 *** VLCKD enabled the patient to reach her target weight and to reduce her joint pain and *** inflammatory indices also normalized.

关键词： Very low calorie ketogenic diet Inflammation PNK

The Experience on Geopolymer Technology in Semi-Industrial Production

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材料科学与工程（中英文B版） 2012年第4期2卷 300-305页

作者： Patrik Boura Zdenek Ertl Tomas Hanzlicek Ivana perna Czech Development Agency Czech Republic Institute of Rock Structure and Mechanics Academy of Sciences of the Czech Republic

The previous laboratory studies on the geopolymer matrix have resulted in the semi-industrial production of selected geopolymer goods. This technology exploits the basic properties of the geopolymer matrix (high strength, volume stability, heat resistance and the possibility to be filled by different materials). Large-size polished boards have been offered for the kitchen countertops. The variations on them have involved the production of very thin inset tiles. Both types with dimensions of 1,000 × 500 mm have been filled with stone powder, waste glass and mirror shreds, which creates an excellent shiny effect when polished. The subsequent task was to take advantage of the excellent heat resistance of the geopolymer composites and develop heating panels. Combinations of experience with polished panels and different fillers improving the thermal conductivity have provided multiple functions: heating and decorative panels.

关键词：聚合物技术工业生产聚合物基质材料开发体积稳定性地聚合物废旧玻璃光泽效果

Liver metastasis of endometrial stromal sarcoma

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World Journal of Hepatology 2012年第12期4卷 415-418页

作者： Jose M Ramia Roberto De la Plaza Ines Garcia Cristian perna Pilar Veguillas Jorge García-Parreo Department of Surgery Hepatopancreatobiliary Surgical UnitHospital Universitario de GuadalajaraGuadalajara28020 MadridSpain Department of Oncology Hospital Universitario de GuadalajaraGuadalajara28020 MadridSpain Department of Pathology Hospital Universitario de GuadalajaraGuadalajara28020 MadridSpain

Resection of liver metastases from gynaecological tumours is *** stromal sarcomas(ESS) are low incidence gynecological tumours which can originate in previous sites of endometriosis or following metaplasia of the pelvic peritoneal wall,and which are exceptionally associated with liver *** present a 68-year-old woman with a ESS and metachronic liver metastasis treated by liver *** is very little literature on clinical management about liver metastasis from ESS,but extrapolating the data obtained with liver metastasis from sarcomas and uterine tumours,we should recommend resection as this is considered a resectable extrauterine *** cases with more sites of extrauterine disease,liver resection should also be performed if the other sites are resectable.

关键词： Sarcoma Stromal Endometrial Liver Metastasis Review