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P340 Functional rage polymorphisms in inflammatory bowel disease
S126 P339 Hemocromatosis gene mutations results) S. Calretas, A. Simao, A. Santos, A. Port0 (Coimbra, P)
Abstracts
in chronic A. Carvalho,
I European
hepatitis M.A.
Journal
of Internal
C (preliminary
Cipriano,
C. Simoes,
Background: Liver iron accumulation has been described in chronic hepatitis C (CHC). It has been suggested that it could influence the clinical course of liver disease. Nonetheless, results are still contradictory. Objectives: To determinate prevalence of liver iron accumulation in CHC; to evaluate its relationship with HFE mutations. Methods: Determination of mutations C282Y and H63D, ferritin, tranferrin saturation, serum iron, and study of liver histology in 50 patients with chronic hepatitis C, and compare results between patients with and without mutation. Results: 19 patients (38%) have HFE mutation; those patients had higher serum iron and transfer& but not statistically significative; ferritin was significatively higher (p
P340 Functional rage polymorphisms in inflammatory bowel disease J. Laki, E. van Elk, G. van Kamp, J.J. Visser, J.B.A. Crusius, AS. (Budapest, H; Amsterdam, NL)
infection A. Mahmoud
14 (2003)
Sl-S1.59
had a past history of hypertension and type II diabetes mellitus. On examination he was apyrexial, blood pressure lOO/SO mmHg, pulse 94/min regular, respiratory rate 16/min, oxygen saturation 97% on air. Chest examination revealed stony dullness at the left base and bilateral reduced air entry. Abdominal examination was normal. Initial investigations revealed haemoglobin 11.9 g/dl, white cell count 22.6X 109 (90% neutrophils), platelet count 542X 109, serum sodium 128 mmol/l, potassium 4.0 mmol/l, urea 4.0 mmol/l. creatinine 126 mmol/l. Liver function tests and amylase were normal. Arterial blood gases: pH 7.46, pCO2 3.74 kPa, pO2 9.4 kPa, bicarbonate 19.9 mmol/l. A chest radiograph (CXR) confirmed a left pleural effusion. A diagnostic pleural tap revealed turbid, thick green/brown fluid. Empyema complicating pneumonia was diagnosed and intravenous antibiotics were commenced. He rapidly deteriorated becoming cyanosed and repeat CXR revealed additional surgical emphysema extending to soft tissues of the neck, pneumomeditastanuim and no change in the pleural effusion. Despite insertion of an intercostal drain there was continued deterioration resulting in cardio-pulmonary arrest. Post mortem findings revealed the cause of death to be due to perforation of a large peptic ulcer at the gastro-oesophageal junction leading to mediastinitis, secondary pleural effusion and subsequent pulmonary collapse. This is an unusual presentation of oesophageal perforation but one which may be considered when epigastric and back pain accompany an apparent lower respiratory tract infection.
Peiia
Introduction: RAGE (receptor for AGES (advanced glycation end-products)) is a cell surface protein, a multiligand receptor. RACE binds AGES such as B-sheet fibrils characteristic of amyloid and cytokine-like mediators of the SlOO/calgranulin family of proinflammatory cytokines. The RAGE gene is located in the MHC locus on chromosome 6~21.3 containing genes involved in inflammatory and immune responses. We studied RAGE polymorphisms at positions ~374 and -429 in the predisposition to the development of IBD, ulcerative colitis (UC) and Crohn’s disease (CD). Linkage and association to genes in the HLA-class II and class III region has been demonstrated predominantly to UC. Materials and methods: 217 IBD patients (94 UC, 123 CD) and 175 unrelated individuals of Dutch Caucasian ancestry were analysed for -429 and -374 in the RAGE promoter polymorphisms at positions region. Results and discussion: RAGE polymorphisms did not deviate from H-W equilibrium in controls. RAGE-374 genotype frequencies were similar in UC, CD and controls. However, in contrast to CD, RAGE-429 genotype frequencies in UC (C/C: 6.4%, T/C: 20.2%, T/T: 73.4%) were significantly different (p=O.OOS) from controls (C/C: I.l%, T/C: 33.1%, T/T: 65.7%). The RAGE-429 polymorphism might be involved in the predisposition to UC.
P341 Oesophageal perforation presenting as a chest S. Rimouche, K.M. Seneviratne, K. Mahmood, ghamshire, UK)
Medicine
(Nottin-
Oesophageal perforation is a well recognized phenomenon. We report a case with an unusual presentation which led to rapid clinical deterioration. A 62-year-old Caucasian male presented with a one day history of shortness of breath and cough productive of green sputum. He also complained of intermittent sharp epigastric pain and lower back pain. He
P342 False clinical virus cirrosis, N. Eleftheriadis,
picture of ‘tense ascites’ in a patient with hepatitis C haemophilia A and factor V Leiden E. Fourla, D. Eleftheriadis, P. Makris (Thessaloniki, CR)
Objectives: The relation of haemophilia A with factor V Leiden is extremely rare in the literature. Methods: We report a case of a 54.year-old male patient with a 5.year history of decompensated liver cirrhosis and known HCV hepatitis, hemophilia A and the factor V Leiden mutation. He was admitted to our department because of severe abdominal distension, resembling ‘tense ascites’ despite the use of diuretics. Clinical examination showed shifting dullness and protuberant belly, while hematological and blood chemistry examination revealed thrombopenia (platelets: 77OOO/ml) and hypoalbuminemia. Repeated abdominal paracentesis (under factor VIIa administration) were failed to remove ascitic fluid, while abdominal echosonography and computed tomography revealed severe edema of mesentetium and around the intraabdominal viscus and absence of free ascitic fluid, atrophic cirrhotic liver and splenomegaly. Moreover, abdominal doppler echosonography revealed signs of portal hypertension, previous portal vein thrombosis and revascularization of the portal vein. Gastroscopy showed esophageal varices grade II, without signs of bleeding, while A-FP and all other laboratory examinations were normal. Results: According to clinicolaboratory results of our patient, in combination with the absence of data regarding the definite therapy in similar cases, we decided to further treat our patient only with albumine and diuretics (furosemide) intravenously with mild improvement of his abdominal distension. Neither anticoagulant therapy nor antiplatelets were administered. He discharged in a good general condition. Conclusions: According to our case we consider the false clinical picture of ‘tense ascites’ of our patient as a rare clinical presentation of decompensated liver cirrhosis, with severe edema of mesenterium and viscus, on the ground of preexisting portal vein thrombosis, in a patient with combined hemorrhophilia A and factor V Leiden. However further studies are necessary in order to determine the optional therapy in this rare but extremely life-threatening case.
Abstracts
in chronic A. Carvalho,
I European
hepatitis M.A.
Journal
of Internal
C (preliminary
Cipriano,
C. Simoes,
Background: Liver iron accumulation has been described in chronic hepatitis C (CHC). It has been suggested that it could influence the clinical course of liver disease. Nonetheless, results are still contradictory. Objectives: To determinate prevalence of liver iron accumulation in CHC; to evaluate its relationship with HFE mutations. Methods: Determination of mutations C282Y and H63D, ferritin, tranferrin saturation, serum iron, and study of liver histology in 50 patients with chronic hepatitis C, and compare results between patients with and without mutation. Results: 19 patients (38%) have HFE mutation; those patients had higher serum iron and transfer& but not statistically significative; ferritin was significatively higher (p
P340 Functional rage polymorphisms in inflammatory bowel disease J. Laki, E. van Elk, G. van Kamp, J.J. Visser, J.B.A. Crusius, AS. (Budapest, H; Amsterdam, NL)
infection A. Mahmoud
14 (2003)
Sl-S1.59
had a past history of hypertension and type II diabetes mellitus. On examination he was apyrexial, blood pressure lOO/SO mmHg, pulse 94/min regular, respiratory rate 16/min, oxygen saturation 97% on air. Chest examination revealed stony dullness at the left base and bilateral reduced air entry. Abdominal examination was normal. Initial investigations revealed haemoglobin 11.9 g/dl, white cell count 22.6X 109 (90% neutrophils), platelet count 542X 109, serum sodium 128 mmol/l, potassium 4.0 mmol/l, urea 4.0 mmol/l. creatinine 126 mmol/l. Liver function tests and amylase were normal. Arterial blood gases: pH 7.46, pCO2 3.74 kPa, pO2 9.4 kPa, bicarbonate 19.9 mmol/l. A chest radiograph (CXR) confirmed a left pleural effusion. A diagnostic pleural tap revealed turbid, thick green/brown fluid. Empyema complicating pneumonia was diagnosed and intravenous antibiotics were commenced. He rapidly deteriorated becoming cyanosed and repeat CXR revealed additional surgical emphysema extending to soft tissues of the neck, pneumomeditastanuim and no change in the pleural effusion. Despite insertion of an intercostal drain there was continued deterioration resulting in cardio-pulmonary arrest. Post mortem findings revealed the cause of death to be due to perforation of a large peptic ulcer at the gastro-oesophageal junction leading to mediastinitis, secondary pleural effusion and subsequent pulmonary collapse. This is an unusual presentation of oesophageal perforation but one which may be considered when epigastric and back pain accompany an apparent lower respiratory tract infection.
Peiia
Introduction: RAGE (receptor for AGES (advanced glycation end-products)) is a cell surface protein, a multiligand receptor. RACE binds AGES such as B-sheet fibrils characteristic of amyloid and cytokine-like mediators of the SlOO/calgranulin family of proinflammatory cytokines. The RAGE gene is located in the MHC locus on chromosome 6~21.3 containing genes involved in inflammatory and immune responses. We studied RAGE polymorphisms at positions ~374 and -429 in the predisposition to the development of IBD, ulcerative colitis (UC) and Crohn’s disease (CD). Linkage and association to genes in the HLA-class II and class III region has been demonstrated predominantly to UC. Materials and methods: 217 IBD patients (94 UC, 123 CD) and 175 unrelated individuals of Dutch Caucasian ancestry were analysed for -429 and -374 in the RAGE promoter polymorphisms at positions region. Results and discussion: RAGE polymorphisms did not deviate from H-W equilibrium in controls. RAGE-374 genotype frequencies were similar in UC, CD and controls. However, in contrast to CD, RAGE-429 genotype frequencies in UC (C/C: 6.4%, T/C: 20.2%, T/T: 73.4%) were significantly different (p=O.OOS) from controls (C/C: I.l%, T/C: 33.1%, T/T: 65.7%). The RAGE-429 polymorphism might be involved in the predisposition to UC.
P341 Oesophageal perforation presenting as a chest S. Rimouche, K.M. Seneviratne, K. Mahmood, ghamshire, UK)
Medicine
(Nottin-
Oesophageal perforation is a well recognized phenomenon. We report a case with an unusual presentation which led to rapid clinical deterioration. A 62-year-old Caucasian male presented with a one day history of shortness of breath and cough productive of green sputum. He also complained of intermittent sharp epigastric pain and lower back pain. He
P342 False clinical virus cirrosis, N. Eleftheriadis,
picture of ‘tense ascites’ in a patient with hepatitis C haemophilia A and factor V Leiden E. Fourla, D. Eleftheriadis, P. Makris (Thessaloniki, CR)
Objectives: The relation of haemophilia A with factor V Leiden is extremely rare in the literature. Methods: We report a case of a 54.year-old male patient with a 5.year history of decompensated liver cirrhosis and known HCV hepatitis, hemophilia A and the factor V Leiden mutation. He was admitted to our department because of severe abdominal distension, resembling ‘tense ascites’ despite the use of diuretics. Clinical examination showed shifting dullness and protuberant belly, while hematological and blood chemistry examination revealed thrombopenia (platelets: 77OOO/ml) and hypoalbuminemia. Repeated abdominal paracentesis (under factor VIIa administration) were failed to remove ascitic fluid, while abdominal echosonography and computed tomography revealed severe edema of mesentetium and around the intraabdominal viscus and absence of free ascitic fluid, atrophic cirrhotic liver and splenomegaly. Moreover, abdominal doppler echosonography revealed signs of portal hypertension, previous portal vein thrombosis and revascularization of the portal vein. Gastroscopy showed esophageal varices grade II, without signs of bleeding, while A-FP and all other laboratory examinations were normal. Results: According to clinicolaboratory results of our patient, in combination with the absence of data regarding the definite therapy in similar cases, we decided to further treat our patient only with albumine and diuretics (furosemide) intravenously with mild improvement of his abdominal distension. Neither anticoagulant therapy nor antiplatelets were administered. He discharged in a good general condition. Conclusions: According to our case we consider the false clinical picture of ‘tense ascites’ of our patient as a rare clinical presentation of decompensated liver cirrhosis, with severe edema of mesenterium and viscus, on the ground of preexisting portal vein thrombosis, in a patient with combined hemorrhophilia A and factor V Leiden. However further studies are necessary in order to determine the optional therapy in this rare but extremely life-threatening case.