Histamine N-methyltransferase and diamine oxidase gene polymorphisms in patients with inflammatory and neoplastic intestinal diseases.
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Although almost all primary colorectal lymphomas are of B-cell lineage in Western countries, primary colorectal T-cell lymphomas are not uncommon in the East. The aim of this study was to review the clinical characteristics and treatment outcomes of primary colorectal lymphomas, with special emphasis on the differences between T-cell and B-cell lymphomas. Ninety-five cases of primary colorectal lymphomas that satisfied Dawson's criteria were identified from the clinical databases of 13 university hospitals in Korea. The mean age at the time of presentation was 51.1 years and the male:female ratio was 64:31. The clinical information, including endoscopic and histological characteristics, was retrospectively analyzed. Of the primary colorectal lymphomas, 78 cases (82.1%) were of B-lineage and 17 cases (17.9%) were of T-cell lineage. Patients with T-cell lymphomas presented at a younger age than patients with B-cell lymphomas (42.8 vs 52.9 years, respectively; P = 0.016). The most common presenting symptom was abdominal pain (87.1%) for B-cell lymphomas, whereas hematochezia or night fever was more common for T-cell lymphomas (52.9% and 35.3%, respectively). The most common endoscopic type was fungating mass (54.0%) for B-cell lymphomas and ulcerative/ulcero-infiltrative lesions (80.0%) for T-cell lymphomas. Intussusception was more common in B-cell lymphomas than in T-cell lymphomas (30.8% vs 5.9%, respectively; P = 0.035), but perforation was more common in T-cell lymphomas than in B-cell lymphomas (23.5% vs 3.8%, respectively; P = 0.005). The prognosis was significantly worse for T-cell lymphomas than for B-cell lymphomas (P = 0.002). Primary colorectal T-cell lymphomas are characterized by multifocal ulcerative lesions in relatively young patients, a high rate of hematochezia, fever, or perforation, and a poor prognosis even for cases of localized disease.
A comparison of daily urinary nitrogen excretion measured directly, with values derived from urea excretion, was carried out on 110 occasions in patients with either gastrointestinal disease requiring total parenteral nutrition or with alcoholic liver disease. The values were found to correlate well in both patient groups (r = 0.88 and 0.9 respectively). Values of urinary nitrogen loss calculated from urea excretion may safely be used when performing nitrogen balance studies in such cases.
After diluting faecal samples with a solution of Brij and saline and subsequently ultrafiltrating the faecal mixtures, lysozyme concentration can be reproducibly measured in the obtained faecal fluids, using a turbidimetric method. Measuring faecal lysozyme concentration enables discrimination normal individuals and patients with irritable bowel syndrome between patients with inflammatory bowel disease and colonic cancer. Lysozyme distribution in stools appears to be homogeneous. Faecal lysozyme concentration is stable when samples are stored during at least 1 wk at 6 degrees C. It appears that the lysozyme activity is directly correlated with the clinical status and severity of the disease. Faecal lysozyme may thus serve as an important tool both in diagnosis and in follow-up in the out-patients clinic for gastroenterology.
BACKGROUND AND AIMS: In short bowel fistula and some other gastrointestinal (GI) diseases, salt, water and magnesium (Mg) balance may continue negative despite oral treatment, even in patients with adequate nutritional status. This study describes the use of self-administered subcutaneous fluid infusions (HSCF) to treat this problem. PATIENTS & METHODS: HSCF was administered to patients with GI failure and adequate macro-nutrient status (BMI) when GI salt, water and magnesium balance continued negative despite optimal diet, drug and supplemental treatment. Mg depletion was confirmed using the Mg load test. Patients were taught to self-administer 0.5-1.0 l 0.9% saline +/-0.5 l 5% dextrose +/-2-4 mmol MgSO4 subcutaneously by gravity drip during 6-12 h overnight, 3-7 days/week. Water and Na balance were assessed (weight, serum creatinine, urea, Na) at baseline and at 1 and 3 months of treatment, but also monitored carefully during the first few days of treatment. Serum Mg was measured at baseline and at 2 and 4 weeks. RESULTS: In 10 patients (mean age 65.3+/-13.5 years) Na and water balance was rapidly restored. At baseline, 1 and 3 months, serum biochemical results were: Eight patients received 8-28 mmol MgSO4/week in the infused fluid. Serum Mg [0.7-1.0 mmol] at baseline, 2 and 4 weeks was 0.49+/-0.06, 0.79+/-0.18, 0.83+/-0.10 mmol/l (P=0.002). Tolerance was good; transient oedema developed in 2 patients, resolved by reducing infusion dose. No patient developed hypokalaemia. CONCLUSIONS: Subcutaneous self-administered fluid infusion at home (HSCF) is an easily managed, safe and effective method of restoring and maintaining water, salt and Mg balance in patients with large GI fluid losses but adequate macronutrient status, particularly in the frail or elderly in whom home parenteral nutrition may be difficult.
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BACKGROUND & AIMS: Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction, results from mutations in 1 of at least 7 different genes. Some patients develop a fatal pulmonary fibrosis and others a disabling colitis. This study aimed to document the occurrence of colitis among HPS patients, characterize gastrointestinal tract involvement in HPS, and analyze the distribution of colitis among HPS genotypes. METHODS: Of the 122 HPS patients followed at the National Institutes of Health Clinical Center between 1993 and 2005, 24 were evaluated by endoscopy for gastrointestinal complaints. The histology of gastrointestinal biopsies was retrospectively examined to assess for inflammatory changes, granulomata, and pigmented macrophages. These data were compared with symptoms and HPS genetic subtypes. RESULTS: At colonoscopy, 7 of 23 patients (30%) had endoscopic mucosal abnormalities, including nodularity, erythema, petechiae, or erosions. Six of these 7 patients (86%) had findings of colitis on biopsy. Of the 16 patients with normal-appearing colonic mucosa, 2 patients (12%) had colitis on biopsy. Pigmented macrophages were also observed in the colonic lamina propria in 16 of the 23 patients (70%). Of the 8 patients with confirmed colitis, 7 had the HPS-1 subtype, and 1 had the HPS-4 subtype. CONCLUSIONS: There is an increased frequency of colitis in our population of 122 HPS patients (8/122, 7%) and in HPS patients referred specifically for symptom evaluation (8/24, 33%). Colitis was found in patients with HPS-1 and HPS-4 genotypes.
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A number of neurological symptoms have been described as complications of inflammatory bowel disorders such as coeliac disease, Whipple's disease, Crohn's disease and ulcerative colitis. The neurology of coeliac disease includes disorders of the central nervous system encompassing cerebellar ataxia, epilepsy, myoclonus, dementia and multifocal leukoencephalopathy. Peripheral neuropathies, of axonal and demyelinating types, and myopathies have also been reported. The pathomechanisms are more related to immunological-inflammatory processes than to a malresorptive vitamin deficiencies. While CNS symptoms of coeliac disease show a poor response to gluten restriction, peripheral symptoms may respond to elimination of gluten from the diet. There are few reports of a successful corticosteroid treatment in patients showing inflammatory findings in the CSF or bioptic material. Whipple's disease is caused by the gram-positive bacillus Tropheryma whipplei. Patients with a central nervous system manifestation of Whipple's disease may develop a variety of symptoms including dementia, supranuclear gaze palsy, movement disorders, hypothalamic dysfunction and myorhythmia. The CNS-infection is diagnosed by PCR of the CSF. Long-term antibiotic treatment is required, and relapses may occur after withdrawal of antimicrobial therapy. Crohn's disease and ulcerative colitis are complicated by various forms of polyneuropathies, and arterial and venous cerebrovascular diseases. In most cases with neurological complications of inflammatory gastrointestinal diseases an immune mediated inflammatory process is suspected to be the underlying pathomechanism.
PURPOSE: To evaluate the impact of magnetic resonance imaging (MRI) with use of True-FISP sequences in the evaluation of inflammatory bowel-wall changes in children and adolescents with Crohn's disease. Furthermore, the diagnostic procedure in children and adolescents with chronic inflammatory bowel disease (IBD) will be discussed in light of the relevant literature. MATERIAL AND METHODS: Twenty-four children and adolescents aged between 7 and 21 years with suspected or known IBD underwent MRI on a 1.5 T-scanner (Philips ACS-NT, Best, Netherlands). One hour after 1 l of a 2.5 % mannitol solution was given orally, MR imaging was performed using coronal HASTE-M2D, coronal fat-suppressed T2-TSE, axial dynamic T1-weighted GE-sequences before and after i. v.-contrast material injection (0.1 mmol/kg Gd-DTPA) and using a 2D-balanced-FFE-sequence (True-FISP) before and after i. v.-contrast material injection in coronal and axial planes. The MR-images were correlated with endoscopy and the clinical findings. In 14 patients, a recently performed conventional radiographic enteroclysis was available. Each performed MRI sequence was evaluated by three experienced radiologists regarding the sensitivity and specificity of each sequence in the detection of inflammatory bowel wall changes. In addition, the image quality was assessed regarding the different tissue contrasts and the susceptibility to artifacts. The distension of the bowel wall and the patients' acceptance of the MRI examination were recorded. RESULTS: With a sensitivity in detecting inflammatory small bowel changes of 93.3 % (axial pre-contrast, coronal post-contrast) and 100 % (axial post-contrast, coronal pre-contrast), the True-FISP outnumbers the other performed sequences (T1 = 80 %, HASTE = 13.3 % and T2-TSE = 53.3 %). The difference between True-FISP and contrast-enhanced T1 was not statistically significant, whereas the difference between True-FISP and HASTE and T2-TSE, respectively, was statistically significant. The True-FISP sequences revealed a statistically significant superiority regarding the soft-tissue differentiation in comparison to all other performed MR-sequences. The distension of the bowel wall was good in all patients. The patients' acceptance of the MRI examination was excellent. CONCLUSION: The described small bowel MRI examination is appropriate for children and adolescents. With the use of True-FISP sequences, it is a convincing method with an outstanding sensitivity in the diagnosis of IBD. Not least because of the lack of radiation exposure, small bowel MRI ought to replace conventional enteroclysis as a gold standard for IBD diagnosis in children and adolescents.