Ágnes Nagy

Microsatellite allelotyping differentiates chromophobe renal cell carcinomas from renal oncocytomas and identifies new genetic changes

Aims:  The diagnosis of renal oncocytomas (ROs) and chromophobe renal cell carcinomas (RCCs) based on histological features is often uncertain. To assess the value of genetic analysis in their differential diagnosis we analysed 27 ROs and 21 chromophobe RCCs by microsatellite allelotyping.

Dna amplification polymorphisms of Mucor piriformis

Mucor piriformis can cause postharvest decay in various fruits and vegetables stored at low temperatures. Thirty isolates of this fungus, collected from infected fruit, were subjected to random amplified polymorphic DNA (RAPD) analysis. Seven different 10-bp primers were used to determine the type and extent of intraspecific genetic polymorphisms. Nineteen composite amplification types were identified, indicating a higher degree of variability than found in previous isoenzyme studies. Numerical analysis with the UPGMA technique revealed three clusters, which correlated with the mating competency of the isolates or their place of origin. These results demonstrate that RAPD analysis can identify isolates and subspecific populations of M. piriformis.

Prevalence of the factor V Leiden mutation in human inflammatory bowel disease with different activity

BACKGROUND the developmental mechanism of inflammatory bowel disease (IBD) in patients is unknown, but it may be influenced by different environmental and genetical factors. AIMS of this study were: (1) to classify the IBD patients according the disease activity; and (2) to determine the presence of factor V Leiden mutation in IBD patients. PATIENTS AND METHODS the observation was carried out in 49 patients with Crohns disease (CD) and 29 patients with ulcerative colitis (UC). None of them had a history of thrombotic episodes. IBD was diagnosed by conventional clinical, endoscopic, radiological and histological criteria. The factor V Leiden mutation was detected by the polymerase chain reaction (PCR) method. Crohns disease activity index (CDAI) was evaluated using the method of the National Cooperative Crohns Disease Study. We determined the UC disease activity according to Truelove-Witts classification. RESULTS The prevalence of factor V Leiden mutation was increased in both populations of the patients to compare it with healthy persons (14.28 and 27.58% vs. 5.26%, n=7/49 and 8/29 vs. 3/57). The statistical analysis did not show a significant relationship between the CDAI or the Truelove-Witts grade in UC and the presence of Leiden mutation. CONCLUSION the presence of factor V Leiden mutation probably has a role in the development of IBD. Our results suggest a higher prevalence of this mutation in Central European patients than in Southern, Northern Europe or America, may be due to the genetical differences of these populations.

Complications after ultrasonic lung parenchyma biopsy: a strong note for caution

BackgroundThis study aimed to determine the possible cause for an unacceptable frequency of postresectional pneumothorax in cases of ultrasonic scalpel use without a further reinforcing maneuver in lung biopsy during video-assisted thoracic surgery (VATS).MethodsData for a series of 16 consecutive VATS lung biopsy patients (group A) in which a disturbingly high number of minor and medium complications occurred were compared with data for a group of 20 patients previously subject to the same ultrasonic lung biopsy method (group B) without complication.ResultsThe two groups were identical in terms of all significant factors considered in relation to ultrasonic scalpel biopsy. Six notable air leakage complications occurred among the 16 patients of group A. One patient needed redrainage while still in the hospital. Two other patients required readmission and redrainage. In 4 of the 16 cases, late pneumothorax was detected after a “silent” 48-h postoperative period prolonging their hospital stay. Altogether, three medium complications occurred in group A, as compared with none in group B. The drainage duration in group B was not significantly shorter than in group A . Multivariate analysis showed a significant difference in complications favoring group B (odds ratio, 1.88).ConclusionsA high postoperative air leakage rate was observed in a simple case series using an unsecured harmonic scalpel after a randomized trial of the same method in the same institute with a diametrically opposite outcome. The medium complication rate of 3 in 16 cases is unacceptable for a minor procedure such as lung biopsy. The two groups differed only in their thromboembolic prophylaxis protocol. Therefore, it is hypothesized that the recent introduction of low-molecular-weight heparin from day 1 may influence the complication rate. The authors’ observation calls for caution in use of the harmonic scalpel on lung tissue without reinforcing maneuvers (i.e., stitches or clips). To avoid unnecessary complications, operative technique adjustment is recommended.

Identification of mutations in 15 Hungarian families with hereditary protein C deficiency

Hereditary protein C deficiency represents about 2–9% of inherited thrombophilias. Our aim was to elucidate the molecular basis of protein C deficiency in 25 members of 15 Hungarian families with venous thromboembolic diseases and to identify hitherto undescribed genetical defects in the protein C (PROC) gene. The exons of the PROC gene were screened for mutations with the combination of polymerase chain reaction (PCR) and denaturing gradient gel electrophoresis (DGGE), and/or PCR and single‐strand conformation polymorphism (SSCP) analysis. The amplified DNA fragments with aberrant migration during DGGE and SSCP were sequenced. Mutations were determined in the PROC gene in all of the examined families: one nonsense mutation, one rare frameshift deletion and nine different missense mutations, of which three were novel (1493 A→G, 35Asp→Gly; 6231 G→A, 173Gly→Glu; 8476 C→T, 254Thr→Ile). The combination of hereditary protein C deficiency with other hereditary thrombophilias was rather common. DGGE and SSCP were proved to be efficient and cost‐effective screening methods in the genetic analysis of hereditary protein C deficiency.

The high prevalence of the factor V Leiden mutation in central European inflammatory bowel disease patients.

multiple sessions to remain free of dysphagia. None of the seven patients had postprocedural complications. During follow-up, one patient died of unrelated causes. We conclude that careful esophageal dilation is safe for patients who have suffered an iatrogenic perforation. It should be considered the treatment of choice for persistent dysphagia after conservative therapy for an esophageal perforation.

Leiden mutation (as genetic) and environmental (retinoids) sequences in the acute and chronic inflammatory and premalignant colon disease in human gastrointestinal tract.

BACKGROUND Tumor, calor, dolor, pallor and functio laesa are together involved in the different acute and chronic inflammatory processes. The processes involved in the inflammation are determined by differently acquired and hereditary factors. Recently the presence of a new genetic marker (Leiden point mutation) was found in Crohns disease and ulcerative colitis. On the other hand, the GI mucosal integrity was proven on gastrointestinal mucosal damage to be produced by different chemicals, xenobiotics, drugs. In human observations, the serum level of retinoids (vitamin A, lutein, zeaxanthin, alpha-, beta-carotene) was proven in patients with chronic gastrointestinal inflammatory bowel disease. The aims of this study were (1) to measure the prevalence of Leiden mutation; (2) to identify the changes in the serum retinoid level in patients with Helicobacter pylori infection of the stomach (n=24), hepatitis C infection (n=75), ileitis terminalis (Crohns disease; n=49), ulcerative colitis (n=35), colon polyposis (n=59) and adenocarcinoma in colon polyps (n=9), and 57 healthy persons were used in the control group; (3) to compare the directions of the changes in the measured parameters in the acute (H. pylori and hepatitis C infections), chronic (ileitis terminalis, ulcerative colitis) GI inflammatory diseases and in colon polyposis without and with malignisation. METHODS The Leiden mutation was measured by the method of polymerase chain reaction, the retinoid level in the patients serum was measured by high liquid cromathografic method (HPCL). RESULTS (1) It has been found that the prevalence of Leiden mutation increased significantly in patients with ileitis terminalis (P<0.001), ulcerative colitis (P<0.001), colon polyposis (P<0.001) and with colon polyps with malignisation (P<0.01). (2) Serum level of vitamin A and zeaxantin were decreased significantly in all group of patients except for the group with H. pylori infections. (3) alpha- and beta-carotenes were found to be practically at the same level as those in the control groups, except in patients of colon polyps with malignisation. (4) The vitamin A, lutein, zeaxantin, alpha- and beta-carotenes were decreased in patients with ileitis terminalis. CONCLUSIONS (1) The essential role of retinoids (carotenoids) as environmental factors are suggested for keeping GI mucosal integrity in human healthy subjects and patients. (2) Leiden mutation, as a genetic marker, can be used in the screening of patients with ileitis terminalis, ulcerative colitis and colon polyposis (without and with malignisation). (3) An opposite direction can be found between the increased prevalence of Leiden mutation and decrease of serum levels of retinoids in group of patients with ileitis terminalis, ulcerative colitis and colon polyposis (without and with malignisation).

Early post-operative thrombosis of the prosthetic mitral valve in patient with heparin-induced thrombocytopenia

Heparin-induced thrombocytopenia (HIT) is one of the most common immune-mediated adverse drug reactions, with frequencies as high as 2-3% for certain groups of post-cardiac surgery patients. We report on an 50-year-old woman with early post-operative thrombosis of the prosthetic mitral valve due to heparin-induced thrombocytopenia. Non-invasive imaging (two-dimensional transesophageal echocardiography; 2D-TEE) allowed the exact localisation of thrombotic masses and revealed the increase of the mean diastolic mitral gradient. The HIT diagnosis was proved by the clinical scoring system, and with the identification of heparin platelet factor 4-induced antibodies. After the withdrawal of LMWH therapy and the start of intravenous lepirudin treatment, the patients medical condition improved continuously. Follow-up echocardiography showed a step-wise decrease in the severity of the mean diastolic mitral valve gradient and a complete resolution of thrombus formations. Perhaps we may remind ourselves that, whilst HIT is one of the most common immune-mediated adverse drug reactions for certain groups of post-cardiac surgery patients, it can be managed successfully. We would also stress the importance of serial 2D-TEE examinations in the early post-operative period.

Clonal pluralization, as an interpretative delusion after a hallucinatory form of autoscopy

Background and Objectives: Delusional misidentification syndromes are widely present in several major psychiatric and neurological disorders. After reviewing the recent terminology and psychopathology of the double phenomenon in the literature, the authors present a case of a patient with dementia, vascular type, where clonal plural- ization of the Self appeared as a secondary, interpretative delusion after a hallucinatory type of autoscopic experience. Methods: Review of the literature and a case report. Results: In the presented case the linear evolution and the interpretative aspect of the arising misidentification phenomena are predominant. The differential diagnosis and the distinctive characteristics of the presented case from other potential delusional misidenti- fication syndromes are also discussed. Brain lesions and neuropsychological impairments seem necessary, but the full development of these syndromes depends upon the individ- uals responses to his or her defects as much as the defects themselves. Conclusions: Overviewing the broad spectrum of concepts on delusional misidentifica- tion syndromes, the authors emphasize the importance of those approaches which enhance the disappearance of the classical organic-functional dichotomy on the double phenomenon and which try to clarify the neurocognitive background of delusional misidentifications.

Extreme differences in SLCO1B3 functional polymorphisms in Roma and Hungarian populations

Variants in SLCO1B3 transporter are linked to disposition and uptake of drugs and show high degree of heterogeneity between populations. A total of 467 Roma and 448 Hungarian subjects were genotyped for SLCO1B3 c.334T>G and c.1683-5676A>G variant alleles by PCR-RFLP assay and direct sequencing. We found significant differences in the frequencies of homozygous variant genotypes of SLCO1B3 334GG (41.54% vs. 8.04%, p<0.001) and 1683-5676GG (0.43% vs. 2.01%, p=0.028) between Romas and Hungarians. A significantly increased prevalence was found in SLCO1B3 1683-5676G allele frequency in Hungarians compared to the Roma population (15.07% vs. 3.43%, p≤0.001). The frequency of SLCO1B3 334G allele was significantly increased in Roma population compared to Hungarians (70.56% vs. 52.23%, p=0.001). The LD values between the examined SNPs were 80 and 90 in Roma and in Hungarian samples, respectively. Our results highlight notable pharmacogenetic differences between Roma and Hungarian populations, which may have therapeutic implications.