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91.
E‐H Yoo H Woo C‐S Ki HJ Lee D‐K Kim I‐S Kang P Park K Sung CS Lee T‐Y Chung JR Moon H Han S‐T Lee J‐W Kim 《Clinical genetics》2010,77(2):177-182
Yoo E‐H, Woo H, Ki C‐S, Lee HJ, Kim D‐K, Kang I‐S, Park P, Sung K, Lee CS, Chung T‐Y, Moon JR, Han H, Lee S‐T, Kim J‐W. Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. Marfan syndrome (MFS) is an autosomal dominant disorder of the fibrous connective tissue caused by mutations in the fibrillin‐1 (FBN1) gene. Although clinical and genetic analyses have been performed in various populations, there have been few studies in Korea. The aim of this study was to investigate the clinical characteristics and genetic background of Korean patients with MFS. In 39 Korean patients with MFS who met the Ghent criteria, the most common clinical finding was aortic dilatation and/or dissection (94.9%), whereas only 35.9% of patients had ectopia lentis. The majority of MFS patients had fewer than four of the skeletal findings required to fulfill the major skeletal Ghent criterion for MFS. Only 21% of Korean patients had major skeletal abnormalities and most cases showed only minor skeletal involvement. FBN1 gene mutations were detected in 35 out of 39 patients (89.7%), which is similar to rates presented in the previous reports. These results suggest that some clinical features in Korean patients with MFS differed from those reported in Western MFS patients. 相似文献
92.
Short leucine-rich glycoproteins of the extracellular matrix display diverse patterns of complement interaction and activation 总被引:1,自引:0,他引:1
Sjöberg AP Manderson GA Mörgelin M Day AJ Heinegård D Blom AM 《Molecular immunology》2009,46(5):830-839
The extracellular matrix consists of structural macromolecules and other proteins with regulatory functions. An important family of the latter class of molecules found in most tissues is the small leucine-rich repeat proteins (SLRPs). We have previously shown that the SLRP fibromodulin binds directly to C1q and activates the classical pathway of complement. In the present study we further examine the interactions between SLRPs and complement. Osteoadherin, like fibromodulin, binds C1q and activates the classical pathway strongly while moderate activation is seen in the terminal pathway. This can be explained by the interaction of fibromodulin and osteoadherin with factor H, a major soluble inhibitor of complement. Also, chondroadherin was found to bind C1q and activate complement, albeit to a lesser extent. Chondroadherin also binds factor H. We confirm published data showing that biglycan and decorin bind C1q but do not activate complement. In this study a similar pattern is seen for lumican although its affinity for C1q is lower than for biglycan and decorin. Furthermore, using electron microscopy and radiolabeled SLRPs, we demonstrate two different classes of SLRP binding sites on C1q, to head and stalk respectively, where only binding to the head appears to be activating. We propose a role for SLRPs in the regulation of complement activation in diseases involving the extracellular matrix, particularly those characterized by chronic inflammation such as rheumatoid arthritis, atherosclerosis, osteoarthritis and chronic obstructive lung disease. 相似文献
93.
94.
HJ Maas M Danhof & OE Della Pasqua 《Cephalalgia : an international journal of headache》2009,29(7):772-780
In migraine, headache severity varies with age. As a consequence, the effectiveness of medication may also depend on a patient's age. The purpose of this study was to assess the combined effect of age and drug treatment on headache characteristics. Using data from clinical trials of sumatriptan in adolescents and adults, we show how the interaction between age and drug exposure can be parameterised as a covariate on a Markov model that describes the decline of headache severity over three clinically defined stages (no relief, relief and pain-free status). The model explains important clinical observations: (i) the rates at which the pain relief and pain-free status were attained were found to be inversely related to age; (ii) in placebo-treated patients, the mean transit time from 'no relief' to 'relief' is 3 h for young adolescents and increases to 6 h for patients aged ≥ 30 years; and (iii) sumatriptan reduces the transit time to 2 h, irrespective of age. These findings indicate that the therapeutic gain over placebo increases with age. Prospective studies of antimigraine drugs should take this relationship into account when extrapolating efficacy data from adults to adolescents. 相似文献
95.
Michael Selgrad Jan Jacob Koornstra Lucia Fini Marloes Blom Rong Huang Edward B Devol Wytske Boersma-van Ek Gerard Dijkstra Robert C Verdonk Steven de Jong Ajay Goel Sharenda L Williams Richard L Meyer Elizabeth B Haagsma Luigi Ricciardiello C Richard Boland 《Clinical cancer research》2008,14(20):6717-6721
PURPOSE: Liver transplant recepients (LTRs) have an increased risk of colorectal neoplasia. The mechanism responsible for this is unknown. JCV encodes for TAg and has been implicated in colorectal carcinogenesis. We hypothesized that the use of immunosuppression in LTRs facilitates activation of JCV and is responsible for the increased risk of neoplasia. EXPERIMENTAL DESIGN: JCV TAg DNA and protein expression were determined in normal colonic epithelium (n = 15) and adenomatous polyps (n = 26) from LTRs and compared with tissue samples from control patients (normal colon, n = 21; adenomas, n = 40). Apoptosis and proliferation were determined by M30 and Ki-67 immunoreactivity, respectively. RESULTS: JCV TAg DNA was found in 10 of 15 (67%) of normal colonic mucosa from LTRs compared with 5 of 21 (24%) of control normal mucosa (P = 0.025). JCV TAg DNA was detected in 16 of 26 (62%) of the adenomas from LTRs and in 20 of 40 (50%) of control adenomas. JCV TAg protein was expressed in 13 of 26 (50%) adenomas from LTRs versus 2 of 40 (5%) of adenomas from controls (P < 0.001). In adenomas from LTRs, the mean proliferative activity was higher compared with controls (60.3 +/- 3.2% versus 42.7 +/- 2.8%, P < 0.001), whereas mean apoptotic indices were lower in LTRs (0.29 +/- 0.08% versus 0.39 +/- 0.06%, P = 0.05). CONCLUSIONS: The presence of JCV in the colorectal mucosa and adenomas from LTRs, in concert with the use of immunosuppressive agents, suggests that JCV may undergo reactivation, and the subsequent TAg protein expression might explain the increased risk of colorectal neoplasia in LTRs. 相似文献
96.
97.
HJ Greten ;T Greten ;F Brazklewlcz ;F Schroder ;S Sertel ;M Goncalves ;Wendt ;O Karrer ;A Mafalda ;A Remppis 《针灸推拿医学(英文版)》2008,6(5):272-272
Objective: The guiding criteria are considered the backbone of Chinese medicine. They have previously been described as functional features (symptoms) leading to the overall assessment of human functions on the basis of a regulatory (cybernetic) model referring to the I Ging. Methods: The Heidelberg model can explain symptoms such as created by "heat" on a rational physiological level. Results & Conclusion: The overall of physiological symptoms are shown as a schematic draft. The basis of "heat" is considered to be a general increase of microcirculation in the periphery. This leads to a couple of local pathophysiological consequences and sensations like 1) red tongue (the tongue is considered an embryological somatotopic system). 2) Sensation of warmth (by increase of capillary flow). 3) pre-inflammatory state, leading to pain modalities like "worse if pressed", as inflammations tend to be increasingly painful under pressure; 4) reddish skin, the mechanisms by which this is induced may include the release of substance P, therefore accompanied by burning sensation. Systemic pathophysiological consequences may include. Relative lack of fluid in the larger vessels, as fluid supplies peripheral capillary flow. This may lead to water saving mechanisms like thirst, dry mucosa with do, mouth, dry nose, dry lips, dry skin, and also dry stool, yellow and sparse urine. 相似文献
98.
P. D. Mooy H. Przyrembel M. A. H. Giesberts H. R. Scholte W. Blom H. H. van Gelderen 《European journal of pediatrics》1984,143(2):92-95
A boy, now 22 months old, is described who presented at the age of 6 weeks with hypoglycaemic coma. The excretion pattern of organic acids in the urine was consistent with glutaric aciduria type II (GA II). A high energy diet low in fat and protein was given.Treatment with riboflavine resulted in an improvement of the metabolite profile, and the patient gained weight. However, a tendency to hypoglycaemia and severe hypotonia persisted. Due to muscle weakness, aggravated by infections, artificial ventilation was necessary during three periods.Serum carnitine level was low. Treatment with carnitine, started during the third period of artificial ventilation, led to some improvement of muscle strength, but he still could not breathe without support. Treatment with insulin, combined with further enrichment of the diet with glucose, resulted in an increase in muscular strength and in weight gain.Thirteen families with GA II have been described upto now. This is the first patient with a severe form of the disorder wo has survived the 1st year of life. Treatment and metabolic studies are presented. 相似文献
99.
Voice samples of 15 laryngeal, esophageal, and tracheoesophageal speakers using the Blom-Singer voice prosthesis were analyzed for intensity, frequency, and rate. Results indicate that characteristic values for tracheoesophageal speech are more similar to laryngeal speech than esophageal speech, demonstrating the powerful advantage of this pulmonary-supported method of alaryngeal voice. 相似文献
100.
Blom I De Schryver EL Kappelle LJ Rinkel GJ Jennekens-Schinkel A Peters AC 《Developmental medicine and child neurology》2003,45(4):233-239
Little is known about long-term physical sequelae, cognitive functioning, and quality of life of children who have had a haemorrhagic stroke. Fifty-six patients (29 females, 27 males) under 16 years of age at time of the bleeding were studied. Mean age at time of bleeding was 7.7 years (range 1 month to 15.9 years). The primary site and cause of the bleeding at baseline were determined. Occurrences of death, re-bleedings, and seizures during follow-up were recorded. Patients who survived were invited for a follow-up examination including physical check-up, general screening of cognition, and an inventory of subjective health perception. Thirteen children died directly as a result of the haemorrhage; nine experienced a recurrent bleeding, which was fatal in three; six children developed epileptic seizures. At follow-up 36 of 56 patients were still alive. Mean follow-up time was 10.3 years (range 1.3 to 19.9 years) and mean age was 18.6 years (range 1.8 to 34.1 years). There was no patient lost to follow-up. Five patients declined to visit the hospital. In 15 out of 31 patients who could be examined, no physical impairment was observed, 11 had a hemiparesis of varying severity, and three had symptoms of cerebellar ataxia. One child had persisting tetraparesis and one persisting paraparesis. Signs of cognitive deficits were found in 15 patients. Of the children who survive haemorrhagic stroke, the physical and functional prognosis is relatively good, as almost all children were independent at follow-up. However, only a quarter of the surviving children had no physical or cognitive deficit after a mean follow-up period of 10 years. The majority had low self-esteem as well as emotional, behavioural, and health problems. 相似文献