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Biomedical subjects

C Folwaczny

Publications and source records attributed to C Folwaczny.

At least 37 records · Page 2Linked to original sources
PubMed2003

Response to combination therapy with interferon alfa-2a and ribavirin in chronic hepatitis C according to a TNF-alpha promoter polymorphism.

BACKGROUND: Tumor necrosis factor-alpha (TNF-alpha) is involved in the pathogenesis of chronic active hepatitis C. Polymorphisms in the promoter region of the TNF-alpha gene can alter the TNF-alpha expression and modify the host immune response. The present study aimed at the correlation of the G308A TNF-alpha polymorphism with the response to antiviral combination therapy in chronic hepatitis C. PATIENTS AND METHODS: 62 patients with HCV and 119 healthy unrelated controls were genotyped for the G308A TNF-alpha promoter polymorphism. The patients received 3 x 3 million units of interferon alfa-2a and 1,000-1,200 mg ribavirin daily according to their body weight. A response was defined as absence of HCV-RNA and normalization of S-ALT after 6 months of combination therapy. RESULTS: With respect to the allele and genotype frequency, a significant difference was not observed between controls and patients with chronic hepatitis C. Furthermore, such a difference was also not observed if responders and non-responders to antiviral therapy were compared. CONCLUSIONS: The promoter polymorphism of the TNF-alpha gene investigated herein is equally distributed in healthy individuals and patients with hepatitis C and does not seem to predict the response to therapy with interferon alfa-2a and ribavirin.

Adult↗
PubMed2003

The -295T-to-C promoter polymorphism of the IL-16 gene is associated with Crohn's disease.

Recently, a T-to-C polymorphism at position -295 in the promoter region of the human interleukin-16 (IL-16) gene was reported. The expression of IL-16 is increased in inflammatory bowel disease, in particular in Crohn's disease. However, data concerning the IL-16 promoter polymorphism in inflammatory bowel disease are lacking. Thus, the current study aimed at the assessment of this polymorphism in Crohn's disease and ulcerative colitis. One hundred three patients with Crohn's disease, 100 patients with ulcerative colitis, and 120 healthy unrelated controls were genotyped for the promoter polymorphism. Furthermore, patients with Crohn's disease were stratified according to disease localization and the respective clinical phenotype (fistulizing, fibrostenotic, or inflammatory). The frequencies of the T allele (P < 0.01) and the TT genotype (P < 0.01) were significantly increased in patients with Crohn's disease compared to the controls, regardless of the disease phenotype or the site of intestinal involvement. An association with ulcerative colitis was not observed. Herein a new association between a promoter polymorphism of the IL-16 gene and Crohn's disease was observed and correlates with the previously described increased mucosal expression of IL-16 in inflammatory bowel disease.

Adult↗
PubMed2003

The Delta 32 mutation of the chemokine-receptor 5 gene neither is correlated with chronic hepatitis C nor does it predict response to therapy with interferon-alpha and ribavirin.

Unlike in HIV, homozygosity for a 32-bp deletion (Delta 32) of the chemokine receptor 5 (CCR5) gene was recently described in increased frequency in patients with chronic hepatitis C (HCV). Thus, it was speculated that this mutation might be relevant for disease susceptibility and influence the response to antiviral therapy. The present study sought to confirm the association between HCV and the Delta 32 mutation of the CCR5 gene and to correlate it with the response to therapy with interferon-alpha-2a and ribavirin. Sixty-two patients with HCV and 119 healthy unrelated controls were genotyped for the Delta 32 mutation. For the correlation between the Delta 32 mutation and response to therapy, only patients (n = 59) who completed 6 months of combination therapy as part of a prospective study were evaluated. The Delta 32 mutation was not observed in increased frequency in HCV. Furthermore, a significant difference of the HCV load or aminotransferase concentrations was not observed in carriers versus noncarriers of the Delta 32 mutation. After stratification for potentially confounding factors such as gender or HCV genotype, a significant difference was also not detected with respect to treatment outcome. These observations argue strongly against a role of CCR5 for susceptibility to HCV infection or response to combination therapy.

Antiviral Agents↗
PubMed2003

[Impact of 24-hour intraesophageal pH monitoring with 2 channels in the diagnosis of reflux-induced otolaryngologic disorders].

BACKGROUND: Patients with gastroesophageal reflux disease (GERD) may suffer from a large variety of symptoms in the upper aerodigestive tract such as globus sensation, chronic cough, hoarseness and many others. Diagnosis and causal therapy may sometimes be difficult with gastroenterologic evaluation sometimes revealing no pathologic result. The objective of this study was to determine the impact of 24-hour intraesophageal pH monitoring with 2 channels (gastric and laryngeal) in the diagnosis of reflux-induced otolaryngologic disorders. METHODS: This study included 22 patients presenting to the Department of Otolaryngology with symptoms like chronic cough (n = 3), globus sensation and dysphagia (n = 11), heartburn (n = 2), hoarseness and dysphonia (n = 2) or burning sensation of the tongue (n = 1). Three patients had a pathologic formation in the glottic area (leukoplakia, granuloma, polyp). All patients underwent a otolaryngological examination, a gastroenterological investigation and a 24-hour intraesophageal pH monitoring with 2 channels. RESULTS: All 22 patients showed laryngeal mucosal lesions (posterior laryngitis). The gastroenterological evaluation with esophagogastroduodenoscopy was normal in 4 cases. 13 patients showed a hiatal hernia, 4 patients were suffering from a reflux-esophagitis grade I and 2 patients from grade II. One patient had an erythema and 5 patients showed erosions of the gastric mucosa. Seven patients had more than one of the above mentioned diagnoses. Intraesophageal pH-monitoring with 2 channels over 24 hours revealed a gastroesophageal reflux of all 22 patients and a high reflux to the laryngeal level of 21 patients, probably causing laryngopharyngeal symptoms. Therapy of the patients consisted of medical antireflux treatment with proton pump inhibitor esomeprazol (Nexium, 40 mg, 1-0-0). Within 4 weeks 15 of 22 patients had no more laryngopharyngeal symptoms or at least a significant reduction. CONCLUSION: Patients with laryngopharyngeal symptoms such as hoarseness, globus sensation or dysphagia can suffer from GERD, even if typical symptoms such as heartburn or retrosternal pain do not exist and gastroesophageal intervention reveals a normal result. The best diagnostic instrument for the diagnosis of reflux-induced otolaryngologic disorders is a 24-hour intraesophageal pH-monitoring with 2 channels (measure-points at the distal esophagus and laryngeal level). Medical antireflux treatment should consist of proton pump inhibitors (e. g. Nexium) in a dose of 40 mg per day over at least 4 weeks.

Adult↗
PubMed2003

Gastric emptying of solid and liquid meals in healthy controls compared with long-term type-1 diabetes mellitus under optimal glucose control.

BACKGROUND: Neuropathy of the enteric nervous system and hyperglycaemia are regarded as the main causes of diabetic gastroparesis. PATIENTS AND METHODS: In ten patients with Type-1 diabetes mellitus and sensomotoric neuropathy gastric emptying half times were compared with ten healthy controls by employing the 13C-octanoic acid and the 13C-sodiumacetate breath test, resp., following the intake of equally composed and isocaloric liquid and solid meals. Plasma glucose concentrations were controlled by permanent intravenous administration of insulin. RESULTS: In diabetes mellitus gastric emptying half times after the intake of the liquid meal (p < 0.05) but not after ingestion of the solid meal were slightly prolonged. Gastric emptying half times in patients and controls were not different when liquid and solid meals were compared. CONCLUSIONS: Acute hyperglycaemia appears to be more important than the neuropathy of the enteric nervous system in the pathophysiology of diabetic gastroparesis. The rate of gastric emptying is obviously not dependent on the phase of a meal, but rather on the composition and the caloric content.

Adult↗
PubMed2003

Interaction of polymorphisms in the CARD15 and CD14 genes in patients with Crohn disease.

BACKGROUND: Associations of variations in the CARD15 gene (Arg702Trp, Gly908Arg and Leu1007fsinsC) and Crohn disease (CD) have been shown recently. These variations are neither necessary nor sufficient for the genetic predisposition of CD. Further genetic and environmental factors play a crucial role in the pathogenesis of CD. METHODS: To evaluate putative interactions between the CARD15 and CD14 genes in CD, a functionally relevant polymorphism in the promoter region (T/C at position -159) has been genotyped for 650 healthy controls and 253 patients with CD by RFLP analyses. CD patients were genotyped for the variations of the CARD15 gene. RESULTS: T allele and TT genotype frequencies of the CD14 promoter were significantly increased only in CD patients with at least one variation in the CARD15 gene compared to controls (P = 0.02 and 0.0002, respectively). No significant association was found in CD patients without any of the variations. CONCLUSION: Interactions of the CARD15 and CD14 genes, both of which are involved in the recognition of lipopolysaccharides, increase the risk for developing CD.

Carrier Proteins↗
PubMed2002

Laparoscopic-assisted resection of giant sigmoid lipoma under colonoscopic guidance.

Colonic lipomata are rare and mostly asymptomatic lesions; but as they become larger they may produce abdominal pain, constipation, diarrhea, hemorrhage, and intussusception. We report the case of a 75-year-old man who suffered from nonspecific recurrent abdominal pain in the left upper and lower quadrants and had variable episodes of diarrhea and constipation of 4 weeks' duration. During colonoscopy, a giant intraluminal polyp was diagnosed at 35 cm. Abdominal helical computed tomography (CT) revealed a constipating colonic tumor with a diameter of >or=50 mm and density values equal to fat. During laparoscopic surgery in the lithotomy position, the sigmoid and the descending colon were mobilized using a Harmonic scalpel. The origin of the polyp was localized precisely under colonoscopic guidance. The former 12-mm incision in the left lower quadrant was expanded to approximately 70 mm for extracorporal tumor resection. The left and sigmoid colon resections were carried out, and the polyp was removed by full-wall excision. After closure with a single-layer suture, the colon was pushed back into the peritoneal cavity. The patient had an uneventful recovery and was discharged 10 days postoperatively. Histology confirmed a benign lipoma of the descending colon. Laparoscopic-assisted resection under endoscopic guidance proved to be suitable for the removal of large colonic polyps without complications.

Aged↗
PubMed2002

A polymorphism in the IL11 gene is associated with ulcerative colitis.

Inflammatory bowel diseases (IBD) are multifactorial disorders characterised by the host's inability to limit the inflammatory response to luminal antigens. The association of polymorphisms in the CARD15 gene with Crohn's disease (CD) demonstrates the relevance of activated transcription factor NF(kappa)B in mononuclear cells. Interleukin 11 (IL11) mediates anti-inflammatory effects and is able to downregulate LPS-induced NF(kappa)B activation. The IL11 gene is therefore a good candidate involved in genetic predisposition to IBD. To evaluate the role of the IL11 gene in IBD, two polymorphisms, including a dinucleotide repeat in the promoter region, have been genotyped in 222 patients with CD, 152 patients with ulcerative colitis (UC) and 400 healthy controls. PCR-SSCP analysis of the coding region revealed a single polymorphism in exon 4 leading to an amino acid exchange (G335A; R112H), not significantly associated with either disease. Dinucleotide repeat frequencies of the IL11.A1 allele and of IL11.A1 homozygous individuals were significantly increased among the patients with UC (P < 0.002 and (P < 0.003, respectively) but not with CD. Altered expression of IL11 appears to be involved in the genetic predisposition of UC.

Alleles↗
PubMed2002

Ulcerative colitis in a patient with Wiskott-Aldrich syndrome.

A 30-year-old man with underlying Wiskott-Aldrich syndrome, which is a rare X-linked congenital immunodeficiency syndrome characterized by recurrent infections, thrombopenia, eczema and hematopoietic malignancies, presented with bloody diarrhea. Endoscopic and histological evaluation was compatible with ulcerative colitis. Congenital immune defects are paralleled by enterocolitis mimicking inflammatory bowel disease in a substantial number of patients. Despite therapy with prednisolone and 5-ASA compounds, the patient described here experienced a relapse of the colitis twice. Subsequently a JC virus infection of the central nervous system was diagnosed, and he died due to progressive multifocal leukencephalopathy.

Adult↗
PubMed2002

[26-year-old female patient with elevated liver enzymes].

A 26-year-old woman presented with elevated liver enzymes, which were diagnosed two months ago. Examination revealed mild proximal muscle weakness, though the patient herself did not realise any impairment. The abdominal ultrasound and the histology of the liver remained unsuspicious. Muscle biopsy showed vacuolar degeneration, which could be ultrastructurally identified as large deposits of membrane-bound glycogen. The morphological findings prompted biochemical investigations which showed an excess of muscle glycogen. Acid maltase activity was reduced to < 10 % of normal, leading together with the clinical findings to the diagnosis of glycogenosis type II (Pompe's disease) of the adult type. Because of the modest impairment of the patient and the limited therapeutic possibilities, the patient remained thus untreated for.

Adult↗