NOD2/CARD15 mutations and the risk of reoperation in patients with Crohns disease.

INTRODUCTION: Three NOD2/CARD15 gene variants (3020insC, R702W, G908R) have been identified as genetic risk factors for Crohns disease patients. However the diagnostic and therapeutic relevance for clinical practice remains limited. The aim of this study was to evaluate the association between these variants, the risk of reoperation and disease phenotype. METHODS: In 76 Crohns disease patients (41 female, 35 male) with a minimum 5 year follow-up, three polymorphisms of the NOD2/CARD15 gene (R702W, G908R, 3020insC) were tested. Detailed clinical and medical history including surgical procedures and reoperations were obtained by reviewing the medical charts and completed prospectively. Association between the need for reoperation, disease phenotypes and gene variants were analyzed. RESULTS: 24 patients (32%) showed at least one NOD2/CARD15 mutation. 25 patients (33%) required reoperation, 51 (67%) represented the control group. The expected trend that patients with NOD2/CARD15 variants have a higher frequency of reoperations was not confirmed to a level of statistical significance (p=0.2688). Two of the four patients (50%) with the 3020insC variant required further surgery. We did not confirm any association between NOD2/CARD15 mutations and age at diagnosis (p=0.4356), behavior (p=0.6610), or localization (p=0.4747) according to the Montreal classification. CONCLUSION: NOD2/CARD15 polymorphisms did not significantly affect the reoperation rate. Homozygosity for the 3020insC variant in the NOD2/CARD15 gene is associated with a high risk of reoperation. NOD2/CARD15 gene variants are not significantly associated with specific disease phenotypes.

[Surgical management of perforations during colonoscopy]. / Chirurgické resení perforací pri kolonoskopii.

INTRODUCTION: Colonoscopy is an effective both diagnostic and therapeutic method. Despite its wide use, however, colonoscopy may be associated with complications occurrence, of which the most serious is bleeding and perforation. Iatrogenic perforation can lead to the peritonitis with high morbidity and mortality. The relative frequency of perforation in diagnostic colonoscopies is 0.03-0.8%, for therapeutic colonoscopy 0.15-3%. The most iatrogenic perforations are located on sigmoid colon. PATIENTS AND METHODS: The endoscopic unit of University Hospital Ostrava performed a total of 7800 colonoscopy in the period between 1st January 2006 to 31st December 2010. In 8 patients (0.1%) occurred perforation of the colorectum. In all patients, this complication arose during diagnostic colonoscopy and was treated by surgery. Six patients (75%) were operated on within 24 hours from the performance of colonoscopy, 2 patients (25%) were operated after more than 24 hours. In 5 patients (62.5%) the left colon including rectum was perforated, in 3 patients (37.5%) perforation occurred in right colon. RESULTS: Postoperative complications occurred in 7 patients, postoperative morbidity was 87.5%. In 1 patient (12.5%) surgical revision was necessary. 2 patients died within 30 days after surgery, mortality was 25%. CONCLUSION: Iatrogenic perforation of the colorectum is one of the most serious complications during colonoscopy. Early and optimal treatment is crucial for the subsequent reduction of serious complications and mortality.

[A different view of acute upper gastrointestinal bleeding in liver cirrhosis patients]. / Jiný pohled na akutní krvácení do horního trávicího traktu u pacientu s jaterní cirhózou.

OBJECTIVES: The study focuses predominantly on non-varicose sources of acute upper gastrointestinal bleeding in liver cirrhosis patients and aims to determine its mortality. METHODS AND SUBJECTS: The prospective examination included 137 liver cirrhosis patients with acute upper GIT bleeding. All the patients underwent an endoscopic examination. In case of multiple findings, defining the bleeding source was based on the specialist's attitude presented as the conclusion of the endoscopic examination. RESULTS: The most frequent causes of acute bleeding included oesophagus varices (57.7%), followed by peptic gastric and duodenal ulcers (18.2%), then portal hypertension gastropathy (9.5%), gastric varices (5.1%), reflux oesophagitis (2.9%), Mallory-Weiss syndrome (2.9%) and erosive gastropathy (1.5%). The endoscopy of the upper digestive tract resulted in a negative diagnosis in not more than 2.2% of patients. The majority of examinations showed multiple findings in the upper digestive tract, each of which could have been a potential cause of bleeding. Mortality in all bleeding cirrhotic patients reached 14.6%, 18.6% of which were related to the varicose type of bleeding and 7.8% to the non-varicose type. CONCLUSION: Portal hypertension led to bleeding (caused by varices and portal hypertension gastropathy) in 72.3% of patients, 62.8% patients suffered from purely varicose bleeding, 37.2% patients from non-varicose bleeding. Mortality was statistically significantly higher on 0.1 level of significance in cases of varicose bleeding in comparison with non-varicose bleeding. An emphasis should be laid on an early and detailed endoscopic examination leading to an appropriate diagnosis and therapy.

[Long-term monitoring of patients with clinical symptoms of upper gastrointestinal tract bleeding with a negative endoscopy result]. / Dlouhodobé sledování pacientu s klinickými známkami krvácení do horní cásti trávicího traktu a negativním endoskopickým nálezem.

The authors present the results of a long-term monitoring of patients who presented with clinical signs of bleeding from the upper gastrointestinal tract (GIT) but totally negative endoscopy results on admission. Retrospective-prospective analysis of acute endoscopies in patients with clinical signs of bleeding from the upper gastrointestinal tract performed in the Endoscopy Centre of the OstravaTeaching Hospital from 2002 to 2005, long term monitoring of the sample with negative results on admission. A total of 133 patients, i.e. 16.3 % of all acute procedures, with no source of bleeding detected in the first endoscopy. 26.4% of wrong indications. In the rest of the sample, a source of bleeding was detected by endoscopy in 17 patients (15 in an early examination and 2 within one month from the event), i.e. 17.3%. The rate of bleeding recurrence was 15%. The risk of recurrence was higher in patients with haematemesis and a decrease in the blood count (BC) at the time of the first event. In 19 patients, i.e. 14.3%, the source was not detected. In the remaining 33 patients, the findings were as follows: 1) in 4 patients, the source of bleeding was detected in the small intestine (push enteroscopy or enteroclysis); 2) in 3 patients, the source of bleeding was detected in the colon; 3) in 6 patients, IBD was detected; 4) in 5 patients, cirrhosis of the liver was diagnosed within months or years from the event.

[Endoscopic findings in upper gastrointestinal tract in patients with liver cirrhosis]. / Endoskopické nálezy v horním trávicím traktu u pacientu s jaterní cirhózou.

151 patients suffering from the cirrhosis of the liver underwent a prospective endoscopic examination of the upper digestive tract. The most frequent diagnoses in the group with the cirrhosis of the liver included oesophagus varices (64.9%), portal hypertension gastropathy (45.7%) and the peptic ulcer of the gastroduodenum (25.8%). A normal diagnosis in the endoscopy of the upper digestive tract was found only in 8.6%. Other diagnoses comprised reflux oesophagitis (13.2%), diaphragm hiatus hernia (12.6 %), duodenogastric reflux (8.6 %), gastric antrum erosion (4.6 %), aphthic gastropathy (3.3 %), rhagades of the cardium (2%), gastric polyp (1.3%), mycotic oesophagitis, gastric carcinoma, oesophagus carcinoma and oesophagus achalasy (0.7% each). Further on the study discusses possible causes of the high incidence of peptic ulcers in the patients with the cirrhosis of the liver. All findings are correlated with literary data.

[A rare complication of acute lymphoblastic leukaemia in young patients]. / Neobvyklá komplikace akutní lymfoblastické leukémie u detských pacientu.

The paper presents one of the rather rare complications related to the malignant blood disease in young patients. The treatment of this extremely serious disease should be accompanied not only with number of already described complications which are thus expected but also with rare ones, whose control and treatment is demanding and rather long-term. The immense progress in medical research makes it possible to cope with a variety of serious diseases including leukaemia in young patients with one-year intensive therapy and an overall exhaustion of their organisms, where in spite of a perfect therapeutic protocol new challenges need to be met. The present study describes one of such rare complications, which appeared in two three-year-old girl patients, accidentally during the same time period: namely benign oesophagus stenosis. The condition was caused by several factors - first mycotic infection, histologically proved as Candida Albicans - which in one of the girls lead to septic states and the condition was generalised with more affected organs. Due to the location of the stenosis in the lower third of oesophagus, gastrooesophagus reflux played its role, too and last but not least there was a negative effect of one of the cytostatics - methotrexate - causing mycotic infections (here stomatitis and oesophagitis). For the proper development and overall well-being of a healthy organism, an optimal, sufficient and appropriate per oral reception of food is necessary. Satisfying this need becomes even more crucial in the case of young patient otherwise affected by an immunodeficient condition and an overall impoverishment of their organism. The oesophagus stenosis presents an obstacle manageable using either endoscopic methods or surgery. Although in the cases discussed the treatment was very demanding due to the age of the patients, continuous cytostatic therapy in progress, the primary disease, and the general anaesthesia - it was finally effective and successful.

[The etiology of upper gastrointestinal bleeding in patients with liver cirrhosis]. / Príciny akutního krvácení do horního trávicího traktu u pacientu s jaterní cirhózou.

108 patients suffering from the cirrhosis of the liver and acute bleeding into the upper digestive tract underwent a prospective endoscopic examination with diagnostic and therapeutic objectives. The most frequent causes of acute bleeding included oesophagus varices (57.4%) followed by peptic gastric ulcer (13.9%) and peptic ulcer of duodenum (11.1%), then portal hypertension gastropathy (5.6%), gastric varices (4.6%), reflux oesophagitis (2.8%), Mallory-Weiss syndrom (2.8%) and erosive gastropathy (0.9%). The endoscopy of the upper digestive tract in one patient resulted in negative diagnosis. 69% of examinations showed multiple findings in the upper digestive tract, each of which could have been a potential cause of bleeding. To determine the source of bleeding the specialist's attitude presented at the end of the endoscopic examination was taken into consideration. In 67.6% of patients the bleeding was a direct consequence of portal hypertension, in 62% it was caused by varices. The emphasis is put on early and thorough endoscopic examinations aimed at proper diagnosis and therapy.

Importance of guided fine needle aspiration cytology (FNAC) for the diagnostics of thyroid nodules - own experience.

UNLABELLED: The aim of our study was to assess the accuracy and limitations of ultrasound guided fine-needle aspiration cytology (FNAC) of thyroid nodules. METHODS: The usg-FNAC results of 245 patients with thyroid nodules, who afterwards underwent thyroid surgery or who died, and autopsies were carried out, and compared retrospectively with cytologic results. Patients with malignant cytologic conclusion without histological confirmation after surgery or autopsy were excluded from the study (9 persons). The usg-FNAC results were divided as follows: group 1: diagnosis of malignancy (n = 30), group 2: suspicion of malignancy (n = 28), group 3: benign (n = 126), group 4: inconclusive (n = 29). RESULTS: Assuming the cytologic results of group 1 and group 2 were interpreted as being malignant and those of group 3 as being benign, the sensitivity, specificity and accuracy of usg-FNAC were 90 %, 85 % and 86 % respectively. Comparing the cytologic conclusions between a group of patients with follicular lesions and a subgroup of other lesions a statistically significant difference (p < 0,01) between both subgroups using Fisher's test was found. Sensitivity, specificity and diagnostic accuracy in subgroup of follicular lesions were low (71 %, 63 %, 67 %), while in the subgroup of other lesions were high (94 %, 86 %, 88 %). FNAC can specify the nature of focal lesion with high sensitivity, specificity and diagnostic accuracy in the cases of non-follicular lesions. Histological evaluation is required to specification of the nature in cases in which cytology is indicative of follicular proliferation.

[Puncture aspiration using ultrasound guidance in the treatment of abscesses and other purulent foci in the liver, pancreas and kidneys]. / Vyuzití aspiracní punkce pod kontrolou ultrazvuku v lécbe abscesu a jiných hnisavých lozisek jater, pankreatu a ledvin.

The authors deal with the problem of application of a therapeutic fine needle aspiration puncture in abscesses and other purulent foci in organs of abdominal cavity and retroperitoneum. The treatment using this method under continuing antibiotic therapy has been used in 60 patients (40 men, 20 women), 25 of them suffering from liver abscesses, 28 other from purulent foci of pancreas and seven patients from purulent foci of the kidney. In most patients there were solitary foci (43 persons). The total volume of the evacuated pus was higher than 20 ml in most patients (52), being even more than 100 ml in 2 patients. No relation ship was found among the number of foci, their volume and efficiency of the treatment. The average number of punctures until the abscesses and other purulent foci were healed up was 2.76 in the liver, 2.5 in pancreas and 1.1 in the kidney. The efficiency of therapy was higher in liver abscesses (96%), in purulent foci of pancreas (82%) and lower in the kidney abscesses (57%). The higher efficiency in the purulent foci of pancreas was probably influenced by predominant representation by infected pseudocysts in this group. The lower average number of punctures until the abscesses were healed up and the lower success in the kidney were influenced by a more radical approach of urologists who, having made the first evacuation puncture, performed a radical operation intervention. The complications were encountered in 9.5% of all punctures, being always insignificant. The results obtained demonstrated the contribution of aimed therapeutic aspiration puncture in the therapy of purulent foci of parenchymal organs of abdominal cavity and retroperitoneum as compared with surgical treatment. The advantage of the applied method in the therapy of purulent foci of the liver and pancreas may be seen in the higher success rate, low invasiveness and a low risk of complications together with a low financial cost and wide availability.

Chlorpromazine-induced cholestatic liver disease with ductopenia.

We describe a 30-year-old pregnant woman in whom cholestatic liver disease developed 16 resp. 18 days after the medication of chlorprothixeni hydrochloridum and chlorpromazine treatment in the 33rd week of pregnancy. Clinically, the course was characterized by severe jaundice lasting 10 months, fever, pruritus, high serum alkaline phosphatase level, transient aminotransferase elevation, and hypercholesterolemia. The pregnancy was terminated in the 35th week by cesarean section with the birth of a premature female newborn without any signs of liver damage. The histological examination of the mother's liver revealed ductopenia, defined by the absence of interlobular bile ducts in at least 50% of the small portal tracts, and long-standing cholestasis with pseudoxanthomatous transformation of hepatocytes and ductular epithelia, and small lobular xanthomas. The jaundice resolved very slowly after ursodeoxycholic acid therapy. The liver function tests 26 months after the onset of jaundice showed only a slight elevation of alkaline phosphatase and aminotransferases. In the control liver biopsy, non-active periportal and septal fibrosis without signs of cholestasis was seen. To our knowledge this is the sixth report to document chlorpromazine-induced ductopenia in pregnancy and the first to describe a newborn without any liver damage.

[Are ultrasonic images in diabetics different?]. / Je sonografický nález u diabetiku odlisný?

The authors evaluated the results assembled in 5397 patients where between Jan. 1 1999 and Oct. 31 2000 sonographic examinations of the abdominal cavity and retroperitoneum were made with the objective to assess whether there are any statistically significant differences of results in diabetic patients, as compared with a group without this disease. The group of patients was divided into a sub-group of 4287 patients without diabetes and a sub-group of 1100 diabetics. For statistical evaluation of the significance of differences in the incidence of the investigated parameters Fisher's exact test was used. The image of "light liver" was significantly more frequent in diabetics type 1 and 2, as compared with non-diabetics (p < 0.001). The sonographic picture, consistent with the diagnosis of cirrhosis of the liver, was at the same level of significance more frequent in non-diabetics, similarly as the incidence of haemangioma. The finding of cholecystolithiasis and the number of patients with a history of CHCE on account of cholecysolithiasis was significantly higher (p < 0.05) only in type 1 diabetics as compared with non-diabetics. The incidence of sonographic changes consistent with acalculous cholecystitis was statistically higher in both groups of diabetics (p < 0.001), as compared with non-diabetics. On examination of the pancreas only the incidence of changes consistent with acute or chronic pancreatitis was significantly higher (p < 0.05) in the group of type 2 diabetics as compared with non-diabetics. Evaluation of sonographic findings of the kidneys revealed statistically significant differences only in the higher incidence of cysts in the group of type 2 diabetics as compared with type 1 diabetics and as compared with non-diabetics (p < 0.01). The impact of the presented findings and their comparison with data reported in the literature is discussed.