[10 minute consultation. Crohn disease as suspected diagnosis].
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Abdominal Pain↗
Biomedical subjects
C Folwaczny
Publications and source records attributed to C Folwaczny.
A645G (Lys216Glu) polymorphism of the bactericidal/permeability-increasing protein gene in periodontal disease.
Bactericidal/permeability-increasing protein (BPI) is a member of the pattern recognition receptors of the innate immune system and recognizes lipopolysaccharides (LPS), a bacterial component belonging to the pathogen-associated molecular patterns (PAMPs). BPI mediates the neutralization of LPS and increases the phagocytosis and cytotoxicity against bacteria. Recently, the functionally effective polymorphism A645G resulting in the amino acid alteration Lys216Glu has been described. The aim of the study was to investigate the association of the A645G polymorphism with chronic periodontal disease. The study population comprised 123 patients with periodontal disease (36 with mild, 52 with moderate and 35 with severe periodontitis) and 122 healthy, unrelated control individuals. Genotyping of the BPI gene polymorphism A645G (Lys216Glu) was performed by polymerase chain reaction and restriction fragment length polymorphism analysis. Statistical analysis was carried out employing the chi(2) test with Yates correction. Genotype and allele frequencies of the polymorphism tested herein showed no significant differences between periodontal disease as compared to the control group. The frequencies of the G allele were 52.4% in patients with periodontal disease and 49.2% in the control individuals (P = 0.528). Moreover, no significant associations could be detected after stratification for disease severity and according to gender. The present study does not give evidence for the contribution of the BPI gene to the genetic background of chronic periodontal disease.
Adult↗
Serum antibodies in first-degree relatives of patients with IBD: a marker of disease susceptibility? A follow-up pilot-study after 7 years.
INTRODUCTION: Various disease-specific serum antibodies were described in patients with inflammatory bowel disease and their yet healthy first-degree relatives. In the latter, serum antibodies are commonly regarded as potential markers of disease susceptibility. The present long-term follow-up study evaluated the fate of antibody-positive first-degree relatives. PATIENTS AND METHODS: 25 patients with Crohn's disease, 19 patients with ulcerative colitis and 102 first-degree relatives in whom presence of ASCA, pANCA, pancreatic- and goblet-cell antibodies had been assessed were enrolled. The number of incident cases with inflammatory bowel disease was compared between antibody-positive and antibody-negative first-degree relatives 7 years after storage of serum samples. RESULTS: 34 of 102 (33%) first-degree relatives were positive for at least one of the studied serum antibodies. In the group of first-degree relatives, one case of Crohn's disease and one case of ulcerative colitis were diagnosed during the follow-up period. However, both relatives did not display any of the investigated serum antibodies (p=1). DISCUSSION: The findings of our pilot study argue against a role of serum antibodies as a marker of disease susceptibility in first-degree relatives of patients with inflammatory bowel disease. However, these data have to await confirmation in larger ideally prospective multicenter studies before definite conclusions can be drawn.
Adult↗
Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.
BACKGROUND AND AIMS: Recent data suggest identification of causal genetic variants for inflammatory bowel disease in the DLG5 gene and in the organic cation transporter (OCTN) cluster, both situated in previously described linkage regions. PATIENTS AND METHODS: The polymorphisms in DLG5 (113 G-->A, 4136 C-->A, and DLG5_e26), SLC22A4 (1672 C-->T), and SLC22A5 (-207 G-->C) were assessed in 625 patients with Crohn's disease (CD), 363 patients with ulcerative colitis (UC), and 1012 healthy controls. Association with disease susceptibility, clinical phenotypes, and possible genetic interactions of these polymorphisms with disease associated CARD15/NOD2 mutations was analysed. RESULTS: No significant association of DLG5 polymorphisms with CD or UC was observed. Homozygosity for the OCTN-TC haplotype was associated with an increased CD risk (OR = 1.65), which was even greater in the presence of CARD15 mutations. Genotype-phenotype analysis revealed that this association was particularly strong in patients with colonic disease. The TC haplotype was associated with non-fistulising non-fibrostenotic disease, an earlier age of disease onset, and reduced need for surgery. CONCLUSION: Our observations argue against a role of DLG5 polymorphisms in the susceptibility for inflammatory bowel disease, whereas the OCTN polymorphisms are associated with CD. However, due to the comparable weak association observed herein, extended linkage disequilibrium analyses of these variants with the IBD5 haplotype tagged single nucleotide polymorphims might be advisable before definitive conclusions about their causative role in CD can be drawn.
Adolescent↗
Association between the promoter polymorphism T/C at position -159 of the CD14 gene and anti-inflammatory therapy in patients with inflammatory bowel disease.
Immune response to intestinal bacteria and genetic predisposition seem to play a crucial role in the pathogenesis of inflammatory bowel disease. A single nucleotide polymorphism in the promoter of the lipopolysaccharide-receptor CD14 gene (T/C at position -159) has recently been described. To evaluate the role of the CD14 gene in anti-inflammatory therapy, the functionally relevant T(-159)-->C promoter polymorphism has been genotyped in 72 patients with inflammatory bowel disease and associated with the cumulative steroid dose. Cumulative corticosteroid dose was significantly higher in ulcerative colitis patients with the TT genotype (2447.7 +/- 927.0 mg/yr) compared with the CT genotype (142.3 +/- 142.3 mg/yr, p=0.016) and the CC genotype (391.7 +/- 272.7 mg/yr, p=0.047). In contrast, in patients with Crohn's disease there was no significant difference of the cumulative corticosteroid doses between the various T(-159)-->C promoter CD14 genotypes. An altered immune response to lipopolysaccharides with influence on the anti-inflammatory therapy seems to play a role in the genetic predisposition to ulcerative colitis. Genetic stratification will lead to the development of individualized therapies in inflammatory bowel disease.
Adrenal Cortex Hormones↗
Pancreatic autoantibodies in Crohn's disease: a feasible diagnostic tool?
Potential implications of antibody markers in Crohn's disease: Diagnostic markers, alone or in conjunction with other antibodies? Delineation of clinical phenotypes? Markers of disease behaviour? Markers of (genetic) susceptibility? Identification of genetically homogenous subgroups? Bridge between basic science and clinic? The exact role of serum antibodies in inflammatory bowel disease remains a matter of ongoing debate. Although a direct implication in the disease pathogenesis is unlikely, their diagnostic potential in cases of an undetermined colitis or in defining clinical phenotypes in Crohn's disease has been shown in several studies. Serum antibodies might also be helpful in predicting the disease behaviour and are thus valuable tools in the choice of medical or surgical therapy.
Autoantibodies↗
Prevalence of the -295 T-to-C promoter polymorphism of the interleukin (IL)-16 gene in periodontitis.
Interleukin (IL)-16 is involved in the regulation of the expression of several proinflammatory cytokines, i.e. tumour necrosis factor (TNF)alpha and interleukin (IL)-1beta. The present study aimed to determine the prevalence of the -295 promoter polymorphism of the interleukin (IL)-16 gene in periodontal disease. A total of 123 patients with periodontal disease and 122 healthy controls were genotyped for the -295 IL-16 promoter polymorphism. Genotyping has been performed by PCR and restriction fragment length polymorphism (RFLP) analysis. The frequencies of alleles and genotypes as well of haplotypes within both study groups were compared using the Pearson chi(2) test at a level of significance of 5% (P < 0.05). The distribution of genotypes for the -295 IL-16 gene polymorphism showed no significant difference between periodontitis patients and healthy control subjects (P = 0.886). Also stratification analysis according to the disease severity revealed no significant difference regarding the genotype distribution among both study groups. Herein the IL-16 -295 gene polymorphism was not associated with chronic periodontitis.
Adult↗
Comparison of inflammatory bowel disease at younger and older age.
OBJECTIVE: In a substantial number of patients inflammatory bowel disease develops past the age of 40 years. However, data about the clinical presentation and disease behaviour in this age group are scarce. METHODS: The following parameters were evaluated retrospectively in 191 consecutive patients with inflammatory bowel disease: Gender, age at diagnosis, leading symptoms, disease localization and behaviour (e. g. fistulizing, fibrostenotic or inflammatory), extraintestinal manifestations, medication, smoking habits, dysplasia, cancer and mortality. RESULTS: In 16 % of patients inflammatory bowel disease had been diagnosed past the age of 40 years. In elderly patients with ulcerative colitis male gender was predominant. Diarrhea, abdominal pain and anaemia were observed more frequently in younger patients, whereas the remainder of parameters showed an equal distribution in both age groups. CONCLUSIONS: Younger patients are frequently afflicted by symptoms which potentially impair the quality of life. However, in this retrospective single center evaluation the disease localization and behaviour of inflammatory bowel disease in elderly patients was comparable to young adults. Due to a potential referral bias, these data await confirmation in larger prospective multicenter trials.
Adult↗
The G2964A polymorphism of the STAT6 gene in inflammatory bowel disease.
BACKGROUND AND AIMS: Linkage of inflammatory bowel diseases to chromosome 12p13.2-q24.1 (IBD2) has been confirmed in several genome wide screens. The STAT6 gene is located within this chromosomal region. The transcription factor STAT6 is involved in the regulation of the TH1/TH2 immune response. Increased production of TH1 cytokines is crucial in the pathogenesis of Crohn's disease. PATIENTS AND METHODS: Therefore, we genotyped a single nucleotide polymorphism in the 3' untranslated region of the STAT6 gene (G2964A) in 243 patients with Crohn's disease, 100 patients with ulcerative colitis and 548 healthy controls. RESULTS: In comparison to controls, the G allele and the GG genotype frequencies were significantly increased only in Crohn's disease patients without a variation in the CARD15 gene (p<0.03 and p<0.02, respectively). CONCLUSIONS: Alterations in the STAT6 pathway may play a crucial role in the pathogenesis of distinct subgroups of patients with Crohn's disease.
Adult↗
Klippel-Trenaunay syndrome with involvement of coecum and rectum: a rare cause of lower gastrointestinal bleeding.
Klippel-Trenaunay syndrome (KTS) is a congenital malformation usually presenting limb asymmetry, abnormal development of the deep and superficial veins, and cutaneous capillary malformations. We describe the case of a 56-year-old male KTS patient who suffered from recurrent but life non-threatening lower gastrointestinal bleeding. Colonoscopy revealed multiple extensive cavernous hemangiomas in the coecum and the ascending colon as well as the sigmoid colon and the rectum. MR imaging showed numerous dilated vessels within the left gluteal and inguinal region. The mucosal and the submucosal layers particularly of the sigmoid colon and rectum appeared markedly broadened and displayed high signal intensities in the STIR sequences. Due to only moderate oozing at time of admission the patient was treated with oral iron supplementation so far.
Cecal Diseases↗
Inflammatory bowel disease-specific autoantibodies in HLA-B27-associated spondyloarthropathies: increased prevalence of ASCA and pANCA.
AIMS: An association between inflammatory bowel disease (IBD) and spondyloarthropathies (SpA) has repeatedly been reported. The aim of the present study was to investigate whether serologic markers of IBD, e.g. antibodies against Saccharomyces cerevisiae (ASCA), antibodies against exocrine pancreas (PAB) and perinuclear antineutrophil cytoplasmic antibodies (pANCA) are present in HLA-B27-associated SpA. METHODS: 87 patients with HLA-B27-positive SpA and 145 controls were tested for ASCA, PAB and pANCA employing ELISA or indirect immunofluorescence, respectively. Antibody-positive patients were interviewed regarding IBD-related symptoms using a standardized questionnaire. RESULTS/CONCLUSION: When compared to the controls, ASCA IgA but not ASCA IgG levels were significantly increased in patients with SpA, in particular in ankylosing spondylitis (AS) and undifferentiated SpA (uSpA). pANCA were found in increased frequency in patients with SpA whereas PAB were not detected. The existence of autoantibodies was not associated with gastrointestinal symptoms but sustains the presence of a pathophysiological link between bowel inflammation and SpA.
Adolescent↗
Medical approaches and future options in chronic active ulcerative colitis.
BACKGROUND: Immunosuppressive therapy employing purine analogues is the therapeutic mainstay in patients with chronic active ulcerative colitis. However, despite therapeutic optimization according to thiopurine-methyltransferase activity or red blood cell 6-thioguanine levels, a substantial proportion of patients does not tolerate azathioprine or 6-mercaptopurine or relapses during this treatment. In the latter multiple therapeutic regimens comprising 6-thioguanine, cyclosporin or tacrolimus, methotrexate, cyclophosphamide, infliximab, interferons, heparin, leukocyte apheresis, and various other regimens might be considered aiming at long-term remission. Many of these treatment forms have only been evaluated in small mostly uncontrolled trials. OBJECTIVE: In this review existing treatment modalities and future options for patients with chronic active ulcerative colitis will be discussed focusing on immunomodulating approaches.
Administration, Topical↗
Toll-like receptor (TLR) 2 and 4 mutations in periodontal disease.
Toll-like receptors (TLR) are signal molecules essential for the cellular response to bacterial cell wall components. Different functional effective polymorphisms for the TLR 4 gene (Asp299Gly; Thr399Ile) and for the TLR 2 gene (Arg677Trp, Arg753Gln) have recently been described that are associated with impaired lipopolysaccharide signal transduction. A total of 122 patients with chronic periodontal disease and 122 healthy unrelated controls were genotyped for the Asp299Gly and Thr399Ile polymorphism of the TLR 4 gene and the Arg677Trp and Arg753Gln mutation of the TLR 2 gene. The mutations were identified with polymerase chain reaction followed by restriction fragment length polymorphism (RFLP) analysis. The prevalence of the Asp299Gly and the Thr399Ile mutant allele was 4.1% (10/244) and 4.5% (11/244) among periodontitis patients. For the healthy controls the prevalence was 3.3% (8/244) for the Asp299Gly (P = 0.810) and 3.7% (9/244) for the Thr399Ile mutant allele (P = 0.819). The Arg753Gln mutant allele was found in 2.9% (7/244) of the periodontitis subjects as compared to 4.1% (10/244) in the control group (P = 0.622). The Arg677Trp mutant allele was not found in any of the study subjects. Unlike in ulcerative colitis there was not observed an association between chronic periodontitis and the various mutations of the TLR 2 and 4 gene.
Adult↗
No significant association between mutations in exons 6 and 8 of the autoimmune regulator (AIRE) gene and inflammatory bowel disease.
Various autoantibodies have been described in patients with inflammatory bowel disease. The autoimmune regulator (AIRE) functions as a transcription factor in cells responsible for the induction and maintenance of immunological tolerance. In contrast to classic autoimmune disorders, polymorphisms of the AIRE gene are not associated with inflammatory bowel disease, despite the presence of disease-specific autoantibodies.
Adolescent↗
Dual-probe 24-hour ambulatory pH monitoring for diagnosis of laryngopharyngeal reflux.
BACKGROUND: Patients with gastroesophageal reflux disease may suffer from a variety of symptoms from the upper aerodigestive tract. The objective of this study was to determine the impact of dual-probe 24-hr pH monitoring in the diagnosis of reflux-related otolaryngological disorders. METHODS: Twenty-two patients with symptoms such as chronic cough, globus pharyngeus, heartburn, dysphonia and burning sensation of the tongue underwent a complete ear, nose and throat examination, 24-hr dual-probe pH monitoring, and oesophago-gastro-duodenoscopy. RESULTS: pH monitoring revealed gastroesophageal (distal) reflux in all patients and pharyngeal (proximal) reflux in 21 patients. Treatment consisted of a proton pump inhibitor (esomeprazole). Within 4 weeks 68 per cent of patients had no laryngopharyngeal symptoms; within 8 weeks 95 per cent of patients were symptom-free. CONCLUSIONS: Patients with atypical reflux symptoms such as hoarseness, globus sensation or throat-clearing responded well to anti-reflux treatment.
Adult↗
Biological response modifiers for the treatment of Crohn's disease.
Although standard medical therapy in Crohn's disease is efficient in most patients, a substantial proportion of patients suffering from chronic active disease do not adequately respond to standard therapy. In these patients, alternative regimens have to be considered. Due to the major advances in understanding the pathogenesis of this complex disease involving genetic, environmental, microbial and immunological factors, various new biological therapies targeting key mechanisms have emerged. In this review, a critical appraisal of modern therapeutical concepts will be presented, focusing on antibody and small inhibitory molecule therapies, including inhibition of TNF-alpha and other pro-inflammatory cytokines, adhesion molecules and T cell activation, as well as hormonal therapies.
Animals↗
Adoptive transfer of genetic susceptibility to Crohn's disease.
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Crohn Disease↗