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Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5-10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Here, we present a 19-year-old boy with MNGIE who had a chronic intestinal pseudo-obstruction, and we describe his family history. Genetic analysis revealed a novel homozygous c.765+1G>C intronic mutation which is expected to disrupt splicing of TYMP in the patient. Family screening revealed that the brother was also affected and the mother was a carrier. MNGIE should be considered and genetic testing instigated if individuals with cachexia have neuromuscular complaints or symptoms of chronic intestinal pseudo-obstruction.

Background and Study Aims: Abnormal expression of claudin-4 and beta-catenin play a role in carcinogenesis. The purpose of the present study was to examine claudin-4 and beta-catenin expression in normal and precancerous gastric mucosa., Patients and Methods: Endoscopic biopsy specimens [normal gastric mucosa (n = 22), intestinal metaplasia (n = 24), dysplasia (n = 18), Helicobacter pylori (H. pylori)-associated chronic gastritis (n = 32) and remnant gastric mucosa (n = 18)] obtained from different 114 patients were examined by immunohistochemistry., Results: Claudin-4 expression was present in 94.4% of dysplasia, 87.5% of intestinal metaplasia, 62.5% H. pylori-associated chronic gastritis, and 88.9% remnant gastric mucosa but only 18.2% of normal gastric mucosa biopsies. Decreased expression of beta-catenin was present in 27.8% of dysplasia, 8.3% of intestinal metaplasia, 15.6% of H. pylori-associated chronic gastritis, and 22.2% of remnant gastric mucosa biopsies, but was not present in normal gastric mucosa. When compared with normal gastric mucosa, there was a significant difference in claudin-4 expression in all groups (P < 0.05), but a significant difference was detected in dysplasia and remnant gastric mucosa for beta-catenin (P < 0.05)., Conclusions: Our results suggest that claudin-4 expression is upregulated in premalignant gastric alterations.

Objective: The aim of the present case-control study was to determine whether or not the prevalence of gallbladder stones (GBS) was increased in patients with chronic myelocytic leukemia (CML) and to investigate clinical and laboratory characteristics of CML patients with GBS., Subjects and Methods: This study included 56 patients with CML and 55 sex- and age-matched healthy controls. All participants underwent abdominal ultrasonography and the main clinical and laboratory characteristics were recorded., Results: Gallbladder stones were detected in 13 (23.6%) patients with CML and in 3 (5.4%) control individuals (p < 0.05). The mean follow-up period of CML patients after diagnosis was 54.6 months, range 3-120 months. Hemoglobin levels were higher in the control group than in CML patients. However, total bilirubin, unconjugated bilirubin, lactate dehydrogenase levels, leukocyte and thrombocyte counts, frequency of splenomegaly and hepatomegaly were higher in the CML than in the control group (p < 0.05). Other clinical and laboratory values were not significantly different between the groups. CML patients with and without GBS were also compared for clinical and laboratory values. Age and follow-up period of CML patients after diagnosis were higher in the CML patients with GBS (p < 0.05)., Conclusions: Higher prevalence of GBS in CML patients than in healthy controls was detected. We suggest that CML may increase the frequency of GBS, apart from other well-known risk factors. This risk is probably related to increased unconjugated bilirubin, which determines hemolysis, older age and long follow-up period of CML patients after diagnosis., (Copyright 2009 S. Karger AG, Basel.)

Pulmonary complications, mainly hepatopulmonary syndrome (HPS), are frequently observed in liver cirrhosis. In this study, the aim was to investigate the frequency of hypoxemia and impairment of pulmonary function tests (PFT) in patients with liver cirrhosis and to examine the relationships of these impairments with liver failure. A total of 39 patients with cirrhosis, 24 males and 15 females, were included in our study. The mean age of the patients was 47.5 +/- 17.2 years. Arterial blood gases, PFT, and carbon monoxide diffusion tests (DLCO) were performed in all patients. Out of 39 cirrhotic patients, 21 (53.8%) had ascites, whereas 18 (46.2%) did not. Seven patients were in the Child-Pugh A group, 21 in the Child-Pugh B group, and 11 patients were in the Child-Pugh C group. Hypoxia was found in 33.3% of the patients. Although the PaO2 and SaO2 values of patients with ascites were lower compared to those without ascites (P < 0.05), no statistically significant difference was determined in the comparison of hypoxia between the groups (P > 0.05). Among the PFT parameters, FEV1/FVC and FEF25-75% values were found to be lower in patients with ascites than those without (P < 0.05). No differences were established between these two groups of patients in terms of DLCO (P > 0.05). While no differences were found in comparison of the DLCO values in between the groups (P > 0.05), there was a statistically significant difference in the ratio of DLCO to the alveolar ventilation (DLCO/VA) in between the groups (P < 0.05). On the other hand, a negative correlation was found between the DLCO/VA and Child points when the relationship between the Child-Pugh score and PFT parameters were investigated (r = -0.371, P < 0.05). Consequently, a relationship was established between the severity of liver failure and diffusion tests showing pulmonary complications invasively. We believe diffusions tests should be performed in addition to the PFT in order to determine pulmonary involvements particularly in patients who are candidates for liver transplantation.

Nitroimidazole derivatives are commonly used in the treatment of protozoal and anaerobic infections, and reports of their hepatotoxicity are rare. We report a case of severe hepatitis due to the long-term (8 weeks) use of ornidazole. A 27-year-old woman presented for evaluation of elevated serum transaminase and total bilirubin levels. Liver biopsy revealed portal inflammation, hepatocellular and canalicular cholestasis, porto-portal and portocentral bridging fibrosis, and a tendency to form nodules. No aetiological factors associated with chronic liver disease were identified. The abdominal ultrasonographic findings were compatible with chronic liver disease. We therefore made the diagnosis of severe hepatitis resulting from the long-term use of ornidazole. We conclude that nitroimidazole derivatives may lead to serious liver damage, especially in female patients.

Gastric mucosal lesions are very common in portal hypertension and cirrhosis. The aim of this study was to assess for oxidative gastric tissue damage in cirrhosis and evaluate relations with portal hypertension and cirrhosis parameters. The study included 30 patients with cirrhosis and 30 controls. Each patient's history, physical examination, and laboratory findings were recorded, and multiple biopsies of the gastric antrum were obtained at endoscopy. A set of antral biopsies was also collected from each control subject. Each tissue specimen was analyzed for levels of glutathione peroxidase (GPX), superoxide dismutase (SOD), and catalase (CAT) activity and level of malondialdehyde (MDA). Patients' gastric GPX, SOD, and CAT levels were significantly lower, and MDA levels were higher, than in the control group. The GPX activity level in the specimens was moderately negatively correlated with portal vein diameter (P<0.05, r=-0.45) and spleen length (P<0.05, r=-0.45). In this study gastric tissue oxidative markers showed that antral oxidative factors worsen in cirrhosis. Oxidative stress may not be a clinical condition but it obviously shows gastric tissue damage and may explain many patients' gastric lesions and hemorrhage.

In previous studies, it has been shown that QT interval prolongation is related to an increased mortality rate in chronic liver disease (CLD). But QT dispersion (QTd) and its clinical significance in CLD has not been well studied. The objectives of this study were to investigate the relation between QTd and severity of the disease and determine its prognostic value in cirrhotic patients. Thirty-three consecutive patients with cirrhosis and 35 sex- and age-matched healthy subjects were studied. QT intervals and QT dispersions were measured on admission, and all intervals were corrected for heart rate according to Bazett's formula. The authors analyzed the potential relationship between QT parameters and the disease severity according to Child-Pugh classification and compared these values between survivors and nonsurvivors after a 3-year follow-up. Child-Pugh classification is used to assess liver function in cirrhosis. Corrected QT (QTc) prolongations were found in 32% of patients with cirrhosis and 5.7% of the healthy controls (p <0.001). The prevalence of increased (>70 ms) corrected QT dispersion (QTcd) was 45% in patients with cirrhosis. According to Child-Pugh criteria: QTd, maximum QT interval (QTmax), corrected QTmax (QTcmax), and QTcd in class C were significantly higher than those of class A and B (p <0.05, for all comparison). But there was no significant difference between class A and B in QTmax, QTcmax, QTd, and QTcd. There were 10 (30%) deaths from all causes during 3-year follow-up in the study group. Cox regression analysis showed that QTd and QTcd were better mortality indicators than QTmax and QTcmax, and Child's classification was the best predictor for mortality among all variables. In conclusion, QT dispersion and corrected QT dispersion parameters were better mortality indicators than other QT interval parameters and also may give additional prognostic information in patients with chronic liver disease.

Many studies have demonstrated that cirrhosis is frequently associated with autonomic dysfunction. The aim of this study was to test autonomic dysfunction in cirrhotic patients by analyzing heart rate variability (HRV), to determine whether or not the degree of autonomic dysfunction is correlated with the severity of disease, and, also, to compare the changes of HRV between survivor and nonsurvivor groups after 2-year follow-up periods. HRV was analyzed using 24-hr ECG recording in 30 cirrhotic patients and 28 normal controls. The changes in HRV parameters including mean normal-to-normal (N-N) interbeat intervals (mean NN), standard deviation of all N-N intervals (SDNN), standard deviation of the average of N-N intervals for each 5-min period over 24 hr (SDANN), root mean square succesive differences (r-MSSD; msec), and percentage of adjacent N-N intervals that are >50 msec apart (pNN50), all as time domain parameters, were evaluated. The cirrhotic patients were also evaluated according to Child-Pugh classification scores as markers of the disease severity. The time-domain measures of HRV in cirrhotic patients were significantly reduced compared with those in the control group (for all parameters; P < 0.001). The severity of disease was associated with reduced HRV measures (for all parameters; P < 0.001). After the 2-year follow-up periods, HRV measurements in cirrhotic patients were significantly much lower in nonsurvivors than in survivors (P < 0.001 for all). We conclude that increasing severity of cirrhosis is associated with a reduction in HRV. This finding may be an indicator of poor prognosis and mortality for cirrhosis.

Background and Study Aims: Bacterial translocation (BT) has been implicated in the development of infectious complications in many serious clinical conditions such as fulminant hepatic failure (FHF). We aimed to investigate the effects of Gingko biloba (GB), vitamin E (Vit E) and melatonin on intestinal oxidative damage and BT in thioacetamide (TAA)-induced FHF in rats., Materials and Methods: A total of 42 rats were divided into five groups. Group 1 (n = 8) was the control group. Group 2 (n = 10) was the TAA group, in which rats received 350 mg/kg TAA daily by the intraperitoneal (ip) route for 3 days. Oral 100 mg/kg GB per day was administered to group 3 (n = 8), oral 200 mg/kg Vit E per day to group 4 (n = 8) and ip 3 mg/kg melatonin per day to group 5 (n = 8) 48 h prior to the first TAA injection and was continued for 5 consecutive days., Results: When compared with the control group, serious hepatic and intestinal oxidative damage, increased Escherichia coli counts in ileal aspirates and high BT frequencies were observed in the TAA group (all p < 0.0001). Only GB treatment attenuated hepatic oxidative damage (p < 0.0001). There was no difference in intestinal oxidative damage, E. coli counts in ileal aspirates and BT frequency between TAA and the other antioxidant treatment groups (p > 0.05)., Conclusion: Our results suggest that intestinal oxidative damage plays a major role in the development of BT by disrupting the barrier function of intestinal mucosa.

Metastases from distant primary tumors are rarely the first indicators of cancer. However, cutaneous metastases are not uncommon in cases of internal malignancy. This article describes the case of a 65-year-old man with cutaneous metastasis of cholangiocarcinoma who presented with a scalp ulcer as the only initial sign. This is only the third reported case of cholangiocarcinoma with distant cutaneous metastasis.

The aim of the present study was to investigate changes in pulmonary function tests (PFTs) in patients with acute pancreatitis (AP), to compare them with those changes in healthy controls, and to analyze the relationship between these parameters and computed tomography severity index (CTSI) and Ranson's criteria scores as markers of disease severity. This study included 40 patients with AP without a diagnosis of any pulmonary disease and 40 sex- and age-matched healthy controls. All participants were evaluated with simple PFTs and single-breath carbon monoxide (CO) diffusion tests. Patients with AP were also evaluated according to their CTSI and Ranson's criteria scores as markers of disease severity. The forced vital capacity (FVC), forced expiratory volume in the first second (FEV(1)), FEV(1)/FVC, and peak expiratory flow, which determine lung capacity, were similar in the two groups. The forced expiratory volume during the middle half of the FVC (FEF(25 - 75%)), CO diffusing capacity (D(LCO)), and ratio of D(LCO) to alveolar ventilation (D(LCO)/V(A)), which determines alveolar membrane permeability, revealed a statistically significant decline in pulmonary gas exchange in patients with AP (P < 0.05). Correlation analysis showed that there is a significant negative relationship between CTSI and Ranson's criteria scores with FEF(25 - 75%), D(LCO), and D(LCO)/V(A) (P < 0.05). We suggest that AP may cause impaired alveolar gas exchange without manifest pulmonary diseases. The effect of AP on FEF(25 - 75%), D(LCO), and D(LCO)/V(A) appears to be dependent not only on the disease, but also on its severity. FEF(25 - 75%), D(LCO), and D(LCO)/V(A) may give additional prognostic information in patients with AP in the initial evaluation.

Background: Cirrhotic patients have a hyperdynamic systemic circulation. They have insidious cardiac problems besides well-known complications. Brain natriuretic peptide (BNP) relaxes vascular smooth muscle and has a portal hypotensive action. The relations between BNP levels and severity of disease, cardiac dysfunction and esophageal varices were studied in non-alcoholic cirrhotic patients., Methods: Fifty-two non-alcoholic cirrhotic patients were evaluated for decompensation component of cirrhosis. The BNP concentration of echocardiographically examined patients was determined., Results: The BNP levels were significantly higher in ascites, spontaneous bacterial peritonitis and hepatic encephalopathy history group (P = 0.033, P < 0.001, P = 0.014, respectively), but no significant difference were observed for presence of esophageal varices and bleeding history (P = 0.267, P = 0.429). A significant correlation was observed between BNP concentration and Child score (r = 0.427, P = 0.012), interventricular septal thickness (r = 0.497, P < 0.001) and left ventricular posterior wall thickness (r = 0.526, P < 0.001). According to Child-Pugh classification there were no significant difference between groups for echocardiographic measurements and blood pressure (P > 0.05), but plasma BNP levels were significantly higher in Child class B and C patients compared with class A patients (P < 0.05)., Conclusion: Increased levels of BNP are more likely related to the severity of disease in non-alcoholic cirrhotic patients. The advanced cirrhosis is associated with more advanced cardiac dysfunction and BNP has prognostic value in progression of cirrhosis., ((c) 2005 Blackwell Publishing Asia Pty Ltd.)

Background and Aim: Subclinical hepatic encephalopathy (HE) in cirrhotic patients is usually characterized by memory impairment and psychomotor slowing. Our aim was to investigate memory status in cirrhotic patients with and without clinically overt HE., Material and Methods: Thirty-two cirrhotic patients (10 female and 22 male) aged 49 +/- 17 years and 20 healthy subjects (six female and 14 male) aged 46 +/- 12 years were included in the study. Memory status was defined by Wechsler Memory Scale, verbal memory process and complex memory process tests., Results: Grade-1 HE was detected in 7 (22%) patients with cirrhosis. We detected 36 to 92% decrement in various memory tests in cirrhotic patients without HE as compared to healthy subjects. The scores for all psychometric testing results were significantly lower in cirrhotic patients without HE as compared to healthy subjects. We detected 42.9 to 100% decrement in various memory tests in cirrhotic patients with HE than cirrhotic patients without HE. However, there was no statistical significant difference between cirrhotic patients with and without HE. There was no statistical significant difference in cirrhotic patients with Child-Pugh A, B, and C., Conclusion: In conclusion, memory status was influenced in which patients with cirrhosis yet has a normal mental and neurological status to routine clinical examination (subclinical HE). Occasionally, decreased memory performance may adversely affect the satisfaction and lifestyle of these patients. Therefore, subclinical HE is an important social problem.

Background: Peripapillary choledochoduodenal fistula (PCDF) is occasionally detected during endoscopic retrograde cholangiopancreatography. Cholelithiasis and biliary bougienage are two suspected causes of PCDF., Methods: The medical records for 841 patients who underwent endoscopic retrograde cholangiopancreatography between 1993 and 2002 were reviewed for evaluation of PCDF., Results: A total of 327 patients had common bile duct stones, and 16 of these had a PCDF at the papilla of Vater. None of the 16 patients had a history of pancreatitis, duodenal ulcer, or had undergone endoscopic retrograde cholangiopancreatography previously. Seven of the 16 had not undergone biliary surgery., Conclusions: This study indicates that PCDF is a relatively common complication of common bile duct stones and cholangitis. According to the present results, PCDF is more frequently associated with common bile duct stones than with biliary surgery and bougienage.

Acute pancreatitis secondary to organophosphate intoxication is a rare and generally well-course condition, but it is important to be aware of this complication for appropriate clinical management. There are a few reports about this subject in the literature, but it is believed that there are more cases than are reported for this condition. Because symptoms of toxicity can mask this severe complication, we report two cases of acute pancreatitis due to organophosphate intoxication for alerting this condition.

Iron deficiency anaemia is frequently observed in male adults and postmenopausal women due to chronic occult bleeding, usually from the gastrointestinal tract. Practically, as endoscopical investigation of the gastrointestinal system is an invasive procedure, iron replacement treatment was generally started without investigation of the underlying aetiology even in first-line health institutions. This study evaluates the role of endoscopy in the investigation of the aetiology of anaemia in 95 patients (51 males, 44 females), aged 64.9+/-12.5 years (range 50-90 years). All patients having iron deficiency anaemia were investigated by upper gastrointestinal endoscopy and colonoscopy. Upper and lower gastrointestinal pathologies were seen in 10 (10.6%) and 55 (57.8%) patients, respectively. However, no gastrointestinal lesion was found in 30 (31.6%) patients with iron deficiency anaemia. Out of the 95 patients, 16 (16.9%) had erosive gastritis, 15 (15.8%) duodenal ulcer, 8 (8.4%) gastric ulcer, 7 (7.3%) gastric tumours, 7 (7.3%) oesophagitis. 5 (5.4%) colon tumours, 3 (3.2%) haemorrhoids, 2 (2.1%) non-tropical sprue, 1 (1%) colonic polyp, and 1 (1%) colitis. In the majority of elderly patients with iron deficiency anaemia, upper gastrointestinal system disease was found. In 12 (12.7%) patients in the study group, malignancies were detected. In elderly patients with iron deficiency anaemia, the aetiology should be highlighted before giving iron supplementation.