Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/-IVS8Tn:T7/9 patient with acute recurrent pancreatitis

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.

Anhedonia and functional dyspepsia in obese patients:Relationship with binge eating behaviour

BACKGROUND Obese patients(Ob)with a binge eating disorders(BED)behavior pattern have a higher prevalence of postprandial distress syndrome(PDS)compared to Ob without a BED behavior pattern,while an increase of PDS has been described in Ob after sleeve gastrectomy(SG).Hedonic response to a meal is dissociable from satiation in healthy subjects.Anhedonia is the lowered ability to experience pleasure.There are no studies investigating the presence of anhedonia in Ob with and without SG and its relationship to PDS symptoms.AIM To assess the relationship among anhedonia,BED and upper gastrointestinal symptoms in two group of morbidly Ob with and without SG.METHODS Eighty-one Ob without SG,45 Ob with SG and 55 healthy controls(HC)were studied.All subjects fulfilled the binge eating scale(BES)to investigate BED,the validated 14 items Snaith-Hamilton pleasure scale(SHAPS)to assess Anhedonia as well as the Beck Depression Inventory-II(BDI II)and State Trait Anxiety Inventory(STAI)questionnaires to screen for depression and anxiety.All patients underwent a standardized questionnaire investigating the intensity-frequency scores(0-6)of upper gastrointestinal symptoms and were diagnosed for the presence of functional dyspepsia(FD)and its subtypes according to ROME IV criteria.RESULTS Ob without SG who were positive for BED had a 4.7 higher risk of FD compared to Ob without SG who were negative for BED(OR:4.7;95.0%CI 1.23-18.24;P=0.02).STAI-Y2 scores were significantly higher in Ob without SG positive for BED(42.2±1.5 vs Ob negative for BED:39.6±1.0,P=0.04),while SHAPS scores and BDI II did not differ in the two groups(1.16±1.30 vs 0.89±1.02,P=0.49).A lower prevalence of BED(BES>17:11.4%vs 40.7%,P=0.001)and BDI-II(6.8±1.2 vs 13.8±1.9,P=0.005)was reported in Ob with SG than Ob without SG,on the contrary total mean scores of STAI-Y1 and STAI-Y2 were significantly higher in Ob with SG than Ob without SG.Thirty-five percent of Ob with SG fulfilled the diagnosis of FD.SHAPS mean scores and the prevalence of anhedonia did not differ among the two groups(18.2 vs 8.1%,P=0.2).Fifty-four percent of Ob with SG achieved surgical success excess weight loss>50%.Excess weight loss was negatively related to SHAPS total mean scores[adjusted B:-7.099(95%CI:-13.91 to-0.29),P=0.04].CONCLUSION Ob without SG showed a higher prevalence of PDS,mood disorders and anxiety when positive for BE behavior compared to those negative for BE behavior,whereas no differences were found in SHAPS score.Ob with SG showed a higher prevalence of PDS compared to Ob without SG.Concerning psychological aspect,BED and depression are less frequent in the Ob with SG,while both state and trait anxiety are significantly higher.Moreover,the more an Ob with SG is anhedonic,less surgical success was achieved.