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| 1 | Comparison of magnetic resonance spectroscopy, proton density fat fraction and histological analysis in the quantification of liver steatosis in children and adolescents显示文摘AIM To establish a threshold value for liver fat content between healthy children and those with nonalcoholic fatty liver disease(NAFLD) by using magnetic resonance imaging(MRI), with liver biopsy serving as a reference standard. METHODS The study was approved by the local ethics committee, and written informed consent was obtained from all participants and their legal guardians before the study began. Twenty-seven children with NAFLD underwent liver biopsy to assess the presence of nonalcoholic steatohepatitis. The assessment of liver fat fraction was performed using MRI, with a high field magnet and 2D gradient-echo and multiple-echo T1-weighted sequence with low flip angle and single-voxel pointresolved 1H MR-Spectroscopy(1H-MRS), corrected for T1 and T2* decays. Receiver operating characteristic curve analysis was used to determine the best cutoff value. Lin coefficient test was used to evaluate thecorrelation between histology, MRS and MRI-PDFF. A Mann-Whitney U-test and multivariate analysis were performed to analyze the continuous variables. RESULTS According to MRS, the threshold value between healthy children and those with NAFLD is 6%; using MRI-PDFF, a cut-off value of 3.5% is suggested. The Lin analysis revealed a good fit between the histology and MRS as well as MRI-PDFF.CONCLUSION MRS is an accurate and precise method for detecting NAFLD in children. | Michele Di Martino Lucia Pacifico Mario Bezzi Rossella Di Miscio Beatrice Sacconi Claudio Chiesa Carlo Catalano | 2016 | World Journal of Gastroenterology2016，22，39： | 16 |
| 2 | Liver metastases:Contrast-enhanced ultrasound compared with computed tomography and magnetic resonance显示文摘The development of ultrasound contrast agents with excellent tolerance and safety profiles has notably improved liver evaluation with ultrasound(US)for several applications,especially for the detection of metastases.In particular,contrast enhanced ultrasonography(CEUS)allows the display of the parenchymal microvasculature,enabling the study and visualization of the enhancement patterns of liver lesions in real time and in a continuous manner in all vascular phases,which is similar to contrast-enhanced computed tomography(CT)and contrast-enhanced magnetic resonance imaging.Clinical studies have reported that the use of a contrast agent enables the visualization of more metastases with significantly improved sensitivity and specificity compared to baseline-US.Furthermore,studies have shown that CEUS yields sensitivities comparable to CT.In this review,we describe the state of the art of CEUS for detecting colorectal liver metastases,the imaging features,the literature reports of metastases in CEUS as well as its technique,its clinical role and its potential applications.Additionally,the updated international consensus panel guidelines are reported in this review with the inherent limitations of this technique and best practice experiences. | Vito Cantisani Hektor Grazhdani Cristina Fioravanti Maria Rosignuolo Fabrizio Calliada Daniela Messineo Maria Giulia Bernieri Adriano Redler Carlo Catalano Ferdinando D’Ambrosio | 2014 | World Journal of Gastroenterology2014，20，29： | 16 |
| 3 | Endoscopic ablation of Barrett's esophagus using high power setting argon plasma coagulation: A prospective study显示文摘AIM: This prospective study evaluated the effectiveness of 90 W argon plasma coagulation (APC) for the ablation of Barrett's esophagus (BE) that is considered to be the main risk factor for the development of esophageal adenocarcinoma.METHODS: The results from 25 patients, observed at the First Department of General Surgery, University of Verona, Italy, from October 2000 to October 2003, who underwent APC for histologically proven BE were prospectively analyzed.RESULTS: The ablation treatment was completed in all the patients but one (96%). The mean number of APC sessions needed to complete ablation was 1.6 (total number: 40). The eradication was obtained in the majority of cases by one session only (60%), two sessions were required in 24% of the cases and three or more in 16%.About 43% of the sessions were complicated. Retrosternal pain (22.5%) and fever (17.5%) were the most frequent symptoms. Only one major complication occurred, it was an hemorrhage due to ulcer formation on the treated esophagus that required urgent endoscopic sclerosis and admission. The follow-up was accomplished in all the patients with a mean period of 26.3 mo and 20 patients (84%) with a follow-up period longer than 24 mo. Only one patient showed a relapse of metaplastic mucosa 12 mo after the completion of ablation. The patient was hence re-treated and now is free from recurrence 33 mo later.CONCLUSION: High power setting (90 W) APC showed to be safe and effective. The effects persist at a mean follow-up period of two years with a comparable cost in term of complications with respect to standard power settings. Further studies with greater number of patients are required to confirm these results and to assess if ablation reduces the incidence of malignant progression. | Corrado Pedrazzani Filippo Catalano Mara Festini Germana Zerman Anna Tomezzoli Andrea Ruzzenente Alfredo Guglielmi Giovanni de Manzoni | 2005 | World Journal of Gastroenterology2005，11，12： | 14 |
| 4 | Association between serum vitamin D levels and gastric cancer:A retrospective chart analysis显示文摘AIM To determine whether there is an increased risk of gastric adenocarcinoma associated with vitamin D deficiency(VDd).METHODS A retrospective case control study was performed of all patients diagnosed with gastric adenocarcinoma between 2005 and 2015.After we excluded the patients without a documented vitamin D level,49 patients were included in our study.RESULTS The average age of patients with gastric adenocarcinoma and documented vitamin D level was 64 years old(95%CI: 27-86) and average vitamin D level was 20.8 mg/d L(95%CI: 4-44).Compared to a matched control group,the prevalence of VDd/insufficiency in patients with gastric adenocarcinoma was significantly higher than normal vitamin D levels(83.7% vs 16.3%).Forty-one patients(83.7%) with adenocarcinoma showed VDd/insufficiency compared to 18(37%) patients with normal vitamin D level without gastric cancer(OR: 8.8,95%CI: 5-22,P value < 0.0001).The average age of males with gastric adenocarcinoma diagnosis was 60 years old vs 68 years old for females(P = 0.01).StageⅡ gastric adenocarcinoma was the most prevalent in our study(37%).CONCLUSION We reported a positive relationship between VDd and gastric adenocarcinoma,that is to say,patients with decreased VDd levels have an increased propensity for gastric adenocarcinoma. | Neil Vyas Rafael Ching Companioni Melik Tiba Hassan Alkhawam Carmine Catalano Robert Sogomonian Joel Baum Aaron Walfish | 2016 | World Journal of Gastrointestinal Oncology2016，8，9： | 10 |
| 5 | Relationship of MTHFR gene polymorphisms with renal and cardiac disease显示文摘AIM: To investigate the effects of different methylenetetrahydrofolate reductase(MTHFR) 677C>T gene polymorphism and hyperhomocysteinemia for the development of renal failure and cardiovascular events, which are controversial.METHODS: We challenged the relationship, if any, of MTHFR 677C>T and MTHFR 1298A>C polymorphisms with renal and heart function. The present article is a reappraisal of these concepts, investigating within a larger population, and including a subgroup of dialysis patients, if the two most common MTHFR polymorphisms, C677 T and A1298 C, as homozygous, heterozygous or with a compound heterozygous state, show different association with chronic renal failure requiring hemodialysis. MTHFR polymorphism could be a favorable evolutionary factor, i.e., a protective factor for many ominous conditions, like cancer and renal failure. A similar finding was reported in fatty liver disease in which it is suggested that MTHFR polymorphisms could have maintained and maintain their persistence by an heterozygosis advantage mechanism. We studied a total of 630 Italian Caucasian subject aged 54.60 ± 16.35 years, addressing to the increased hazard of hemodialysis, if any, according to the studied MTHFR genetic polymorphisms. RESULTS: A favorable association with normal renal function of MTHFR polymorphisms, and notably of MTHFR C677 T is present independently of the negative effects of left ventricular hypertrophy, increased IntraRenal arterial Resistance and hyperparathyroidism. CONCLUSION: MTHFR gene polymorphisms could have a protective role on renal function as suggested by their lower frequency among our dialysis patients in end-stage renal failure; differently, the association with left ventricular hypertrophy and reduced left ventricular relaxation suggest some type of indirect, or concurrent mechanism. | Francesca M Trovato Daniela Catalano Angela Ragusa G Fabio Martines Clara Pirri Maria Antonietta Buccheri Concetta Di Nora Guglielmo M Trovato | 2015 | World Journal of Nephrology2015，4，1： | 10 |
| 6 | T1-weighted dual-echo MRI for fat quantification in pediatric nonalcoholic fatty liver disease显示文摘AIM:To determine in obese children with nonalcoholic fatty liver disease (NAFLD) the accuracy of magnetic resonance imaging (MRI) in assessing liver fat concentration.METHODS:A case-control study was performed.Cases were 25 obese children with biopsy-proven NAFLD.Controls were 25 obese children matched for age and gender,without NAFLD at ultrasonography and with normal levels of aminotransferases and insulin.Hepatic fat fraction (HFF) by MRI was obtained using a modification of the Dixon method.RESULTS:HFF ranged from 2% to 44% [mean,19.0% (95% CI,15.1-27.4)] in children with NAFLD,while in the controls this value ranged from 0.08% to 4.69% [2.0% (1.3-2.5),P < 0.0001].HFF was highly correlated with histological steatosis (r=0.883,P < 0.0001) in the NAFLD children.According to the histological grade of steatosis,the mean HFF was 8.7% (95% CI,6.0-11.6) for mild,21.6% (15.3-27.0) for moderate,and 39.7% (34.4-45.0) for severe fatty liver infiltration.With a cutoff of 4.85%,HFF had a sensitivity of 95.8% for the diagnosis of histological steatosis ≥ 5%.All control children had HFF lower than 4.85%;thus,the specificity was 100%.After 12 mo,children with weight loss displayed a significant decrease in HFF.CONCLUSION:MRI is an accurate methodology for liver fat quantification in pediatric NAFLD. | Lucia Pacifico Michele Di Martino Carlo Catalano Valeria Panebianco Mario Bezzi Caterina Anania Claudio Chiesa | 2011 | World Journal of Gastroenterology2011，17，25： | 9 |
| 7 | 诊断性腹腔灌洗的临床应用显示文摘 | 洪德飞 Urs Marbus Bryner Richard Catalano | 1997 | 急诊医学1997，6，2： | 9 |
| 8 | Pancreatic fat and β-cell function in overweight/obese children with nonalcoholic fatty liver disease显示文摘AIM: To analyze the associations of pancreatic fat with other fat depots and β-cell function in pediatric nonalcoholic fatty liver disease(NAFLD).METHODS: We examined 158 overweight/obese children and adolescents, 80 with NAFLD [hepatic fat fraction(HFF) ≥ 5%] and 78 without fatty liver. Visceral adipose tissue(VAT), pancreatic fat fraction(PFF) and HFF were determined by magnetic resonance imaging. Estimates of insulin sensitivity were calculated using the homeostasis model assessment of insulin resistance(HOMA-IR), defined by fasting insulin and fasting glucose and whole-body insulin sensitivity index(WBISI), based on mean values of insulin and glucose obtained from oral glucose tolerance test and the corresponding fasting values. Patients were considered to have prediabetes if they had either:(1) impaired fasting glucose, defined as a fasting glucose level ≥ 100 mg/d L to < 126 mg/d L;(2) impaired glucose tolerance, defined as a 2 h glucose concentration between ≥ 140 mg/d L and < 200 mg/d L; or(3) hemoglobin A1 c value of ≥ 5.7% to < 6.5%.RESULTS: PFF was significantly higher in NAFLD patients compared with subjects without liver involvement. PFF was significantly associated with HFF and VAT, as well as fasting insulin, C peptide, HOMA-IR, and WBISI. The association between PFF and HFF was no longer significant after adjusting for age, gender, Tanner stage, body mass index(BMI)-SD score, and VAT. In multiple regression analysis withWBISI or HOMA-IR as the dependent variables, against the covariates age, gender, Tanner stage, BMI-SD score, VAT, PFF, and HFF, the only variable significantly associated with WBISI(standardized coefficient B,-0.398; P = 0.001) as well as HOMA-IR(0.353; P = 0.003) was HFF. Children with prediabetes had higher PFF and HFF than those without. PFF and HFF were significantly associated with prediabetes after adjustment for clinical variables. When all fat depots where included in the same model, only HFF remained significantly associated with prediabetes(OR = 3.38; 95%CI: 1.10-10.4; P = 0.034).CONCLUSION: In overweight/obese children with NAFLD, pancreatic fat is increased compared with those without liver involvement. However, only liver fat is independently related to prediabetes. | Lucia Pacifico Michele Di Martino Caterina Anania Gian Marco Andreoli Mario Bezzi Carlo Catalano Claudio Chiesa | 2015 | World Journal of Gastroenterology2015，21，15： | 5 |
| 9 | Acute kidney injury and hepatorenal syndrome in cirrhosis显示文摘Acute kidney injury(AKI)in cirrhosis,including hepatorenal syndrome(HRS),is a common and serious complication in cirrhotic patients,leading to significant morbidity and mortality.AKI is separated into two categories,non-HRS AKI and HRS-AKI.The most recent definition and diagnostic criteria of AKI in cirrhosis and HRS have helped diagnose and prognosticate the disease.The pathophysiology behind non-HRS-AKI and HRS is more complicated than once theorized and involves more processes than just splanchnic vasodilation.The common biomarkers clinicians use to assess kidney injury have significant limitations in cirrhosis patients;novel biomarkers being studied have shown promise but require further studies in clinical settings and animal models.The overall management of non-HRS AKI and HRS-AKI requires a systematic approach.Although pharmacological treatments have shown mortality benefit,the ideal HRS treatment option is liver transplantation with or without simultaneous kidney transplantation.Further research is required to optimize pharmacologic and nonpharmacologic approaches to treatment.This article reviews the current guidelines and recommendations of AKI in cirrhosis. | Kapil Gupta Abhishek Bhurwal Cindy Law Scott Ventre Carlos D Minacapelli Savan Kabaria You Li Christopher Tait Carolyn Catalano Vinod K Rustgi | 2021 | World Journal of Gastroenterology2021，27，26： | 5 |
| 10 | MRI,^18F—FDG PET/CT及PET/MR成像评估妇科肿瘤显示文摘MRI和^18F-脱氧葡萄糖(FDG)PET/CT在妇科癌症患者的诊疗中扮演着核心和互补角色。由于治疗通常需要联合手术、放疗以及化疗,因此成像对病情分期和评估预后非常重要。该文综述了运用上述2种成像模式在早期评估3种常见妇科肿瘤(宫颈癌、子宫内膜癌和卵巢上皮肿瘤)中的应用。重点提出了影响治疗的影像特征,以及2种成像方式的相对优势和不足。影像评估先期治疗后肿瘤复发以及后续姑息治疗方法的选择。并对MRI和PET中较新的功能和分子技术进行效果评估。最后,该文还介绍PET/MR成像的初期经验,PET/MR是一种新型技术,很有潜力成为个体化妇科肿瘤治疗方案制订的重要方法。 | 王玉 彭新桂 滕皋军 Susanna I. Lee Catalano OA Dehdashti F | 2018 | 中华核医学与分子影像杂志2018，38，4： | 4 |
| 11 | Neglected features of lifestyle: Their relevance in nonalcoholic fatty liver disease显示文摘AIM To investigated in non-alcoholic-fatty-liver-disease(NAFLD), with ultrasound(US)-detected fatty liver, and in a group of non-alcoholic and otherwise healthy subjects, relationship of neglected features of lifestyle with NAFLD and obesity. METHODS Five hundred and thirty-two NAFLD and 667 non-NAFLD healthy subjects, age 21-60 years were studied. Severity of liver steatosis was assessed by US bright liver score. The adherence to mediterranean diet score(AMDS) was assessed on the basis of a 1-wk recall computerized questionnaire which included a detailed physical activity reports(Baecke questionnaire). The western dietary profile score, as a simplified paradigm of unhealthy diet, a questionnaire quantifying sun exposure score and a sleep habits questionnaires provided a further comprehensive lifestyle assessment.RESULTS Body mass index(BMI), insulin resistance(HOMA), and triglycerides, poorer adherence to a mediterranean diet profile, sedentary habits, minor sun exposure and use of 'western diet' foods are greater in NAFLD. Multiplelinear regression analysis, weighted by years of age, displays BMI, HOMA and AMDS as the most powerful independent predictors of fatty liver severity; however, also the physical activity score, the western diet habit and the sun exposure score are acting inside the model with significant independent effects.CONCLUSION Articulated clinical intervention, according to our results, are justified in NAFLD and can be pursued addressing by focused intervention nutritional profile, physical exercise mainly in open-air subsets for enhancing sun exposure and healthier sleep duration and rhythm. | Francesca M Trovato Giuseppe Fabio Martines Daniela Brischetto Guglielmo Trovato Daniela Catalano | 2016 | World Journal of Hepatology2016，8，33： | 4 |
| 12 | Thoracic ultrasound: An adjunctive and valuable imaging tool in emergency,resource-limited settings and for a sustainable monitoring of patients显示文摘Imaging workup of patients referred for elective assessment of chest disease requires an articulated approach: Imaging is asked for achieving timely diagnosis. The concurrent or subsequent use of thoracic ultrasound(TUS) with conventional(chest X-rays-) and more advanced imaging procedures(computed tomography and magnetic resonance imaging) implies advantages, limitations and actual problems. Indeed, despite TUS may provide useful imaging of pleura, lung and heart disease, emergency scenarios are currently the most warranted field of application of TUS: Pleural effusion, pneumothorax, lung consolidation. This stems from its role in limited resources subsets; actually, ultrasound is an excellent risk reducing tool, which acts by:(1) increasing diagnostic certainty;(2) shortening time to definitive therapy; and(3) decreasing problems from blind procedures that carry an inherent level of complications. In addition, paediatric and newborn disease are particularly suitable for TUS investigation, aimed at the detection of congenital or acquired chest disease avoiding, limiting or postponing radiological exposure. TUS improves the effectiveness of elective medical practice, in resource-limited settings, in small point of care facilities and particularly in poorer countries. Quality and information provided by the procedure are increased avoiding whenever possible artefacts that can prevent or mislead the achievement of the correct diagnosis. Reliable monitoring of patients is possible, taking into consideration that appropriate expertise, knowledge, skills, training, and even adequate equipment's suitability are not always and everywhere affordable or accessible. TUS is complementary imagingprocedure for the radiologist and an excellent basic diagnostic tool suitable to be shared with pneumologists, cardiologists and emergency physicians. | Francesca M Trovato Daniela Catalano Guglielmo M Trovato | 2016 | World Journal of Radiology2016，8，9： | 3 |
| 13 | Disease-Free Survival as a Surrogate for Overall Survival in Adjuvant Trials of Gastric Cancer: A Meta-Analysis显示文摘 | Koji Oba Xavier Paoletti Steven Alberts Yung-Jue Bang Jacqueline Benedetti Harry Bleiberg Paul Catalano Florian Lordick Stefan Michiels Satoshi Morita Yasuo Ohashi Jean-pierre Pignon Philippe Rougier Mitsuru Sasako Junichi Sakamoto Daniel Sargent Kohei Sh | 2013 | JNCI Journal of the National Cancer Institute2013，，21： | 3 |
| 14 | 有 CT 冠的 angiography 的匾成像: 匾类型分类上的 intra 脉管的变细的效果显示文摘 AIM:To assess the attenuation of non-calcified atherosclerotic coronary artery plaques with computed tomography coronary angiography(CTCA).METHODS:Four hundred consecutive patients underwent CTCA(Group 1:200 patients,Sensation 64 Cardiac,Siemens;Group 2:200 patients,VCT GE Healthcare,with either Iomeprol 400 or Iodixanol 320,respectively) for suspected coronary artery disease(CAD).CTCA was performed using standard protocols.Image quality(score 0-3),plaque(within the accessible non-calcified component of each non-calcified/mixed plaque) and coronary lumen attenuation were measured.Data were compared on a per-segment/perplaque basis.Plaques were classified as fibrous vs lipid rich based on different attenuation thresholds.A P < 0.05 was considered significant.RESULTS:In 468 atherosclerotic plaques in Group 1 and 644 in Group 2,average image quality was 2.96 ± 0.19 in Group 1 and 2.93 ± 0.25 in Group 2(P ≥ 0.05).Coronary lumen attenuation was 367 ± 85 Hounsfield units(HU) in Group 1 and 327 ± 73 HU in Group 2(P < 0.05);non-calcified plaque attenuation was 48 ± 23 HU in Group 1 and 39 ± 21 HU in Group 2(P < 0.05).Overall signal to noise ratio was 15.6 ± 4.7 in Group 1 and 21.2 ± 7.7 in Group 2(P < 0.01).CONCLUSION:Higher intra-vascular attenuation modifies significantly the attenuation of non-calcified coronary plaques.This results in a more difficult characterization between lipid rich vs fibrous type. | Erica Maffei Chiara Martini Teresa Arcadi Alberto Clemente Sara Seitun Alessandra Zuccarelli Tito Torri Nico R Mollet Alexia Rossi Onofrio Catalano Giancarlo Messalli Filippo Cademartiri | 2012 | World Journal of Radiology2012，4，6： | 3 |
| 15 | Endoscopic submucosal dissection in the treatment of gastric submucosal tumors: results from a retrospective cohort study显示文摘 | Filippo Catalano Luca Rodella Francesco Lombardo Marco Silano Anna Tomezzoli Arnaldo Fuini Maria Antonietta Cosmo Giovanni Manzoni Antonello Trecca | 2013 | Gastric Cancer2013，，4： | 3 |
| 16 | CD44v6 Is a Marker of Constitutive and Reprogrammed Cancer Stem Cells Driving Colon Cancer Metastasis显示文摘 | Matilde Todaro Miriam Gaggianesi Veronica Catalano Antonina Benfante Flora Iovino Mauro Biffoni Tiziana Apuzzo Isabella Sperduti Silvia Volpe Gianfranco Cocorullo Gaspare Gulotta Francesco Dieli Ruggero De Maria Giorgio Stassi | 2014 | Cell Stem Cell2014，，3： | 3 |
| 17 | Nonalcoholic Fatty Liver Disease in Lean/Nonobese and Obese Individuals:A Comprehensive Review on Prevalence,Pathogenesis,Clinical Outcomes,and Treatment显示文摘Nonalcoholic fatty liver disease(NAFLD)is the most common liver disease worldwide,with an estimated prevalence of 25% globally.NAFLD is closely associated with metabolic syndrome,which are both becoming increasingly more common with increasing rates of insulin resistance,dyslipidemia,and hypertension.Although NAFLD is strongly associated with obesity,lean or nonobese NAFLD is a relatively new phenotype and occurs in patients without increased waist circumference and with or without visceral fat.Currently,there is limited literature comparing and illustrating the differences between lean/nonobese and obese NAFLD patients with regard to risk factors,pathophysiology,and clinical outcomes.In this review,we aim to define and further delineate different phenotypes of NAFLD and present a comprehensive review on the prevalence,incidence,risk factors,genetic predisposition,and pathophysiology.Furthermore,we discuss and compare the clinical outcomes,such as insulin resistance,dyslipidemia,hypertension,coronary artery disease,mortality,and progression to nonalcoholic steatohepatitis,among lean/nonobese and obese NAFLD patients.Finally,we summarize the most up to date current management of NAFLD,including lifestyle interventions,pharmacologic therapies,and surgical options. | Ankoor H.Patel Dhiraj Peddu Sahil Amin Mohamed I.Elsaid Carlos D.Minacapelli Toni-Marie Chandler Carolyn Catalano Vinod K.Rustgi | 2023 | Journal of Clinical and Translational Hepatology2023，11，2： | 3 |
| 18 | Peroxidase-like properties of Ruthenium nanoframes显示文摘This work reports the inherent peroxidase-like properties of Ruthenium(Ru) nanoframes. After templating with Palladium(Pd) seeds, Ru nanoframes with an octahedral shape, average edge length of 6.2 nm, and thickness of 1.8 nm were synthesized in high purity([95 %) and good uniformity. Using the oxidation of 3,30,5,50-tetramethylbenzidine(TMB) by H2O2 as a model catalytic reaction, the Ru frames were demonstrated to be approximately three times more active than natural peroxidases in catalyzing the formation of colored products. As compared to their natural counterparts, Ru frames have a stronger binding affinity to TMB as well as a weaker binding affinity to hydrogen peroxide during the catalysis. The Ru frames as peroxidase mimics proved to be chemically and thermally stable. This work represents the first demonstration of Ru nanostructure-based peroxidase mimics and is therefore expected to inspire future research on bio-applications of Ru nanomaterials. | Haihang Ye Jacob Mohar Qingxiao Wang Massimo Catalano Moon J.Kim Xiaohu Xia | 2016 | Science Bulletin2016，61，22： | 3 |
| 19 | Spontaneous rupture of a hepatic angiomyolipoma: CT findings and literature review显示文摘 | G. Guidi O. Catalano A. Rotondo | 1997 | European Radiology1997，，3： | 2 |
| 20 | Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/-IVS8Tn:T7/9 patient with acute recurrent pancreatitis显示文摘BACKGROUND Acute recurrent pancreatitis(ARP)is characterized by episodes of acute pancreatitis in an otherwise normal gland.When no cause of ARP is identifiable,the diagnosis of'idiopathic'ARP is given.Mutations in the cystic fibrosis transmembrane conductance regulator(CFTR)gene increase the risk of ARP by 3-to 4-times compared to the general population,while cystic fibrosis(CF)patients present with a 40-to 80-times higher risk of developing pancreatitis.CASE SUMMARY In non-classical CF or CFTR-related disorders,CFTR functional tests can help to ensure a proper diagnosis.We applied an individualized combination of standardized and new CFTR functional bioassays for a patient referred to the Verona CF Center for evaluation after several episodes of acute pancreatitis.The CFTR genotype was G542X+/-with IVS8Tn:T7/9 polymorphism.The sweat(Cl-)values were borderline.Intestinal current measurements were performed according to the European Cystic Fibrosis Society Standardized Operating Procedure.Recent nasal surgery for deviated septum did not allow for nasal potential difference measurements.Lung function and sputum cultures were normal;azoospermia was excluded.Pancreas divisum was excluded by imaging but hypoplasia of the left hepatic lobe was detected.Innovative tests applied in this case include sweat rate measurement by image analysis,CFTR function in monocytes evaluated using a membrane potential-sensitive fluorescent probe,and the intestinal organoids forskolin-induced swelling assay.CONCLUSION Combination of innovative CFTR functional assays might support a controversial diagnosis when CFTR-related disorders and/or non-classical CF are suspected. | Sara Caldrer Gabriella Bergamini Angela Sandri Silvia Vercellone Luca Rodella Angelo Cerofolini Francesco Tomba Filippo Catalano Luca Frulloni Mario Buffelli Gloria Tridello Hugo de Jonge Baroukh Maurice Assael Claudio Sorio Paola Melotti | 2019 | World Journal of Clinical Cases2019，7，22： | 2 |
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