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91.
Frayling TM Lindgren CM Chevre JC Menzel S Wishart M Benmezroua Y Brown A Evans JC Rao PS Dina C Lecoeur C Kanninen T Almgren P Bulman MP Wang Y Mills J Wright-Pascoe R Mahtani MM Prisco F Costa A Cognet I Hansen T Pedersen O Ellard S Tuomi T Groop LC Froguel P Hattersley AT Vaxillaire M 《Diabetes》2003,52(3):872-881
Maturity-onset diabetes of the young (MODY) is a heterogeneous single gene disorder characterized by non-insulin-dependent diabetes, an early onset and autosomal dominant inheritance. Mutations in six genes have been shown to cause MODY. Approximately 15-20% of families fitting MODY criteria do not have mutations in any of the known genes. These families provide a rich resource for the identification of new MODY genes. This will potentially enable further dissection of clinical heterogeneity and bring new insights into mechanisms of beta-cell dysfunction. To facilitate the identification of novel MODY loci, we combined the results from three genome-wide scans on a total of 23 families fitting MODY criteria. We used both a strict parametric model of inheritance with heterogeneity and a model-free analysis. We did not identify any single novel locus but provided putative evidence for linkage to chromosomes 6 (nonparametric linkage [NPL]score 2.12 at 71 cM) and 10 (NPL score 1.88 at 169-175 cM), and to chromosomes 3 (heterogeneity LOD [HLOD] score 1.27 at 124 cM) and 5 (HLOD score 1.22 at 175 cM) in 14 more strictly defined families. Our results provide evidence for further heterogeneity in MODY. 相似文献
92.
There are a number of perspectives that an individual could be asked to adopt in studies designed to elicit preferences for use in informing resource allocation decisions in health care. This paper develops a conceptual framework that clearly distinguishes between six different perspectives. It is argued that the appropriate perspective to use depends on normative considerations and the particular policy context to which it will be applied. We suggest a future research agenda that explicitly addresses these considerations and which involves direct empirical investigation into the effect of perspective on preferences. 相似文献
93.
Döbert N Menzel C Berner U Hamscho N Wördehoff N Mitrou P Grünwald F 《Cancer biotherapy & radiopharmaceuticals》2003,18(4):565-571
The aim of this study was to evaluate the initial staging and restaging of Hodgkin's disease (HD) according to histopathologic subtype (HST) using fluorine-18-deoxyglucose-positron emission tomography (PET). Special attention was paid to the accuracy of PET for detection of bone marrow infiltration (BMI). 44 patients with HD (m:f = 28:16, mean age 36 +/- 15 years) underwent PET; 16 were primary stagings and 28 restaging examinations. PET results were compared with methods of conventional staging including computed tomography (CT) and bone marrow biopsy. Viable tumor tissue was detected by PET in 25/44 cases, 16 nodular sclerosis (NS), 4 mixed cellularity (MC), 3 lymphocyte predominance (LP) and 2 cases with a nonclassified subtype (NC). FDG tumor uptake, measured as standard uptake value (SUV), ranged from 1.7 to 13. Maximum SUV in NS was 5.2 +/- 1.5 (2.5-7.3), 3.2 +/- 2.4 for MC, 2.6 +/- 0.7 for LP, and 9.1 +/- 3.8 for NC, respectively. In 7% of all patients (3/44) bone marrow infiltrations were detected by PET. PET is known for its superior detection of viable tissue in HD. In this study it was shown that HST does not influence the intensity of glucose metabolism, although 2 patients with NC showed the highest SUVs. In addition PET accurately detected focal BMI and may thus be applied before BMB to guide its optimal use. 相似文献
94.
Photoreceptor noise sets an absolute limit for the accuracy of colour discrimination. We compared colour thresholds in the honeybee (Apis mellifera) with this limit. Bees were trained to discriminate an achromatic stimulus from monochromatic lights of various wavelengths as a function of their intensity. Signal-to-noise ratios were measured by intracellular recordings in the three spectral types of photoreceptor cells. To model thresholds we assumed that discrimination was mediated by opponent mechanisms whose performance was limited by receptor noise. Most of the behavioural thresholds were close to those predicted from receptor signal-to-noise ratios, suggesting that colour discrimination in honeybees is affected by photoreceptor noise. Some of the thresholds were lower than this theoretical limit, which indicates summation of photoreceptor cell signals. 相似文献
95.
Low-digestible carbohydrates represent a class of enzyme-resistant saccharides that have specific effects on the human gastrointestinal tract. in the small bowel, they affect nutrient digestion and absorption, glucose and lipid metabolism and protect against known risk factors of cardiovascular disease. In the colon they are mainly degraded by anaerobic bacteria in a process called fermentation. As a consequence, faecal nitrogen excretion is enhanced, which is used clinically to prevent or treat hepatic encephalopathy. Low-digestible carbohydrates are trophic to the epithelia of the ileum and colon, which helps to avoid bacterial translocation. Short-chain fatty acids are important fermentation products and are evaluated as new therapeutics in acute colitis. They are considered in the primary prevention of colorectal cancer. The bifidogenic effect of fructo-oligosaccharides merits further attention, Unfermented carbohydrates increase faecal bulk and play a role in the treatment of chronic functional constipation, symptomatic diverticulosis and, possibly, the irritable bowel syndrome. In conclusion, low-digestible carbohydrates may play a role in the maintenance of human digestive health. However, the strength of evidence differs between disease entities. 相似文献
96.
97.
Domagk D Avenhaus W Ullerich H Henschke F Menzel J Domschke W 《Zeitschrift für Gastroenterologie》2001,39(7):529-532
Ulcers of the small bowel have repeatedly been described as a late complication of celiac disease and they are considered a signum mali ominis. We report a case of a 53-year-old woman presenting with diarrhea, epigastric pain and abdominal distensions for a period of few weeks. At upper GI endoscopy, biopsies were taken showing complete atrophy of the villi and colonization of the small bowel mucosa. Additionally, uncommon multilocular peptic ulcers were seen in the gastric antrum. These ulcers proved to be Helicobacter pylori-negative with no evidence of Zollinger-Ellison syndrome. Biopsies of gastric ulcers showed signs of a lymphocytic gastritis with an extensive infiltration of the lamina propria by almost exclusively CD3- and CD45R0-positive T-lymphocytes. Intraepithelial T-lymphocytes were found to be increased in the antral as well as the corpus mucosa. Typing the patient for human leukocyte antigens showed a DQA1*0501 and DQB1*0201 phenotype. According to the present report, gastric peptic ulcers seem to be another phenomenon associated with celiac disease. In the case presented here, ulcers were diagnosed together with celiac disease already at first presentation of the patient. 相似文献
98.
J. Menzel 《European archives of oto-rhino-laryngology》1979,223(2-4):377-379
Summary Cholesteatomata (epidermoids) of the petrous bone are malformation tumors which occur during cell division between the 3rd and 5th week of fetal development. They must be differentiated from cholesteatomata following middle ear infection. Epidermoids are found most frequently in the cerebellopontine angle and in the parapontine region producing corresponding clinical signs. The operative approach depends upon the direction of tumor growth: Those extending forwards into the middle cranial fossa are approached either infratemporal and extradural or temporal and intradural. Should the tumor extend backwards into the posterior cranial fossa the suboccipital way is used.The following examples demonstrate typical diagnostic and operative problems. 相似文献
99.
100.
Plasma glutathione peroxidase after selenium supplementation in patients with reduced selenium state
G. Steiner H. Menzel I. Lombeck F. K. Ohnesorge H. J. Bremer 《European journal of pediatrics》1982,138(2):138-140
The plasma glutathione peroxidase (GSHPx) activity was measured in normal adults and children and in patients with reduced selenium state because of dietary treatment of metabolic diseases (phenylketonuria or maple-syrup-urine disease) before and after selenium supplementation. Besides GSHPx (measured with t-butyl hydroperoxide, cumene hydroperoxide and hydrogen peroxide as acceptor substrates) the activity of glutathione S-transferase was estimated in plasma. Plasma GSHPx activity in healthy children was significantly lower than in healthy adults. In 11 dietetically treated patients with phenylketonuria or maple-syrup-urine disease the plasma GSHPx was reduced to about 17% of the values of healthy children of the same age. No glutathione S-transferase activity could be found in plasma of children in normal or reduced Se state.During administration of yeast rich in Se (200g Se/d) for 90 days 2 healthy adults showed no significant change of plasma GSHPx activity. During Se supplementation (75–100g Se/d) for 120–163 days 5 dietetically treated patients with PKU or MSUD exhibited a significant increase of plasma GSHPx activity within 2 days. The values reached a plateau after 1 to 3 weeks of supplementation and remained at this level within the following 4 to 5 months. Therefore, the activity of plasma glutathione peroxidase can be used as an indicator of short-term changes of selenium intake in selenium deficient individuals.Abbreviations (PKU)
Phenylketonuria
- (MSUD)
maple-syrup-urine disease
- (GSHPx)
glutathione peroxidase
- (t-BOOH)
t-butyl hydroperoxide
- (COOH)
cumene hydroperoxide
- (H2O2)
hydrogen peroxide
- (GSH)
reduced glutathione
With support of the Deutsche Forschungsgemeinschaft 相似文献