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1.
Pancreatology ; 23(1): 48-56, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36517351

ABSTRACT

BACKGROUND: PRSS1 and PRSS2 constitute the only functional copies of a tandemly-arranged five-trypsinogen-gene cluster (i.e., PRSS1, PRSS3P1, PRSS3P2, TRY7 and PRSS2) on chromosome 7q35. Variants in PRSS1 and PRSS2, including missense and copy number variants (CNVs), have been reported to predispose to or protect against chronic pancreatitis (CP). We wondered whether a common trypsinogen pseudogene deletion CNV (that removes two of the three trypsinogen pseudogenes, PRSS3P2 and TRY7) might be associated with CP causation/predisposition. METHODS: We analyzed the common PRSS3P2 and TRY7 deletion CNV in a total of 1536 CP patients and 3506 controls from France, Germany, India and Japan by means of quantitative fluorescent multiplex polymerase chain reaction. RESULTS: We demonstrated that the deletion CNV variant was associated with a protective effect against CP in the French, German and Japanese cohorts whilst a trend toward the same association was noted in the Indian cohort. Meta-analysis under a dominant model yielded a pooled odds ratio (OR) of 0.68 (95% confidence interval (CI) 0.52-0.89; p = 0.005) whereas an allele-based meta-analysis yielded a pooled OR of 0.84 (95% CI 0.77-0.92; p = 0.0001). This protective effect is explicable by reference to the recent finding that the still functional PRSS3P2/TRY7 pseudogene enhancers upregulate pancreatic PRSS2 expression. CONCLUSIONS: The common PRSS3P2 and TRY7 deletion CNV was associated with a reduced risk for CP. This finding provides additional support for the emerging view that dysregulated PRSS2 expression represents a discrete mechanism underlying CP predisposition or protection.


Subject(s)
Pancreatitis, Chronic , Trypsinogen , Humans , Alleles , DNA Copy Number Variations/genetics , Genetic Predisposition to Disease , Genotype , Mutation , Pancreatitis, Chronic/genetics , Trypsin/genetics , Trypsinogen/genetics
2.
Pan Afr Med J ; 36: 199, 2020.
Article in English | MEDLINE | ID: mdl-32952843

ABSTRACT

Myocarditis is a rare complication of acute diarrhea due to Campylobacter Jejuni infection. We present the case of 25-year-old male who presented with campylobacter jejuni colitis who subsequently had chest pain and elevated cardiac biomarkers. The patient developed acute myocarditis confirmed on cardiac magnetic resonance imaging.


Subject(s)
Campylobacter Infections/complications , Campylobacter jejuni/isolation & purification , Colitis/complications , Myocarditis/diagnosis , Adult , Biomarkers/metabolism , Campylobacter Infections/diagnosis , Campylobacter Infections/microbiology , Chest Pain/etiology , Colitis/diagnosis , Colitis/microbiology , Humans , Magnetic Resonance Imaging , Male , Myocarditis/microbiology
4.
Tunis Med ; 94(11): 670, 2016 Nov.
Article in English | MEDLINE | ID: mdl-28994870

ABSTRACT

INTRODUCTION: The variceal bleeding, main complication of portal hypertension during cirrhosis, is associated with high early mortality riskestimated between 15 and 20%. This highlights the necessity of predictive models that allow identifying high-risk patients raising the issue of amore aggressive therapeutic care. OBJECTIVE: To assess the performance of four scores for the prediction of cirrhotic patients' high early mortality risk due to digestive hemorrhageand to compare them to the Child-Pugh reference score. METHODS: We collected 87 cirrhotic patients admitted to the Gastroenterology Department of Charles Nicolle Hospital for a high digestivehemorrhage by rupture of gastric or esophageal varicose veins. RESULTS: 56 men and 31 women were included in this study. The average value of Rockall, Glasgow Blatchford, MELD and MELD-Na scores,was respectively equal to 6.19, 10.91, and 17.6 and at 20. Early mortality was 30%. The average value of all the scores was significantly higherwith the prematurely deceased patients (p<0.001). The MELD-Na score had higher sensitivity and specificity for the prediction of prematuremortality compared to the other scores but without statistical significantly difference (Area under the ROC curve: MELD-Na=0.867, p<0.001;Child-Pugh=0.809, p<0.001; Rockall=0.777, p=0.001; Glasgow-Blatchford=0.761, p<0.001; MELD=0.838, p<0.001). The predictive value of thecut-off MELD-Na score was equal to 19 with a sensitivity of 70% and a specificity of 82%. CONCLUSION: The studied four scores had a good predictive value of early mortality risk by varicose digestive hemorrhage with cirrhotic patients.


Subject(s)
Esophageal and Gastric Varices/complications , Gastrointestinal Hemorrhage/mortality , Liver Cirrhosis/complications , Female , Gastrointestinal Hemorrhage/etiology , Humans , Male , Middle Aged , Mortality, Premature , Predictive Value of Tests , Prognosis , ROC Curve , Retrospective Studies , Severity of Illness Index
5.
Tunis Med ; 94(12): 867, 2016 Dec.
Article in English | MEDLINE | ID: mdl-28994887

ABSTRACT

BACKGROUND: Hepatic hydrothorax is a less common complication of cirrhosis with an estimated prevalence of 10- 15%. In the vast majority of cases, ascites are also present but significant pleural effusion may develop in patients without ascites. Hepatic hydrothorax is associated with cirrhosis whatever its etiology. The prognosis of hepatic hydrothorax remains unclear and is closely related to available therapeutic options. The aim of our study is to determine the prevalence of hydrothorax in cirrhotic patients, detail its clinical and therapeutic characteristics, and study the evolutive profile of cirrhotic patients with hydrothorax by comparing it to those without hydrothorax. We also search predictive factors of development of this complication in cirrhotic patients. METHODS: We conduct a retrospective and case-control study including 63 cirrhotic patients with hepatic hydrothorax hospitalized in gastroenterology department of Charles Nicolle hospital of Tunis, during a period of fiveteen years, from January 2000 to January 2015. RESULTS: The prevalence of hydrothorax was 14.5%. The mean age was 62 ± 14 years (range, 22- 86 years). The sex ratio H/F was 1.52. Hepatic hydrothorax was symptomatic in 35 patients. It was right-sided in 60%, left-sided in 24% and bilateral in 16% of cases. Hydrothorax was on average size abundance in 54% of cases. It was transsudatif in 52.5% of cases. Hepatitis C was the most frequent cause of cirrhosis (54%). Our results show that hepatic hydrothorax was present with important ascites in 35 patients. Hydrothorax was significantly related to Child-Pugh C severity of cirrhosis (p=0.0001). Hydrothorax occurence was significantly associated with a low level of albumin (p=0.001), an important hyponatremia (p=0.001) and a low prothrombin rate (p=0.02). A therapeutic thoracentesis was performed in 57% of cases. Diuretics based on spironolactone and furosemide were indicated in 30 patients. Evolution was favorable in 19 patients. Refractory hepatic hydrothorax was present in 31 patients. Death, in the days which follow the hospitalisation, was in 13 patients. The 5-years survival rate was 60%. The mean survival time of patients with hepatic hydrothorax was 8.41 years against 10.75 years at patients without hepatic hydrothorax. CONCLUSION: Hepatic hydrothorax is a common complication in our study. The improvement of the prognosis of our patients would require a better therapeutic management and especially the possibility of orthotopic liver transplantation which is the optimal therapeutic option for patients with hepatic hydrothorax.


Subject(s)
Hydrothorax/etiology , Liver Cirrhosis/complications , Adult , Aged , Aged, 80 and over , Ascites/etiology , Case-Control Studies , Female , Hepatitis C/complications , Humans , Hydrothorax/epidemiology , Male , Middle Aged , Pleural Effusion/etiology , Prevalence , Retrospective Studies , Tunisia/epidemiology , Young Adult
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