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排序方式: 共有810条查询结果,搜索用时 15 毫秒
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Rianne P Reijs Saskia G M van Mil Mariette H J A van Hall Johan B A M Arends Jacobiene W Weber Willy O Renier Albert P Aldenkamp 《Seizure》2007,16(5):438-444
INTRODUCTION: One-third of children with epilepsy are classified as having a cryptogenic localization related epilepsy (CLRE). In cohort studies CLRE is often grouped together with either symptomatic localization related epilepsy (SLRE) or idiopathic generalized epilepsy (IGE). Therefore, this categorization is not specific enough and will not lead to prognostic or treatment information. We objectified the classification differences between these categories. METHODS: A total of 114 children admitted to our epilepsy centre underwent a standardized clinical analysis, which yielded age at onset, duration of the epilepsy, seizure frequency, seizure type, percentage of interictal epileptiform activity on EEG (IEA), type of treatment, and full scale IQ. These variables are regarded the characteristics of the epilepsy, and used in a discriminant function analysis. RESULTS: IEA was found to be the only variable to distinguish between groups of epilepsy. SLRE could easily be distinguished significantly from IGE and CLRE, while the latter two did not differ significantly. Discriminant function analysis combined the variables into two functions, applicable to classify the children. By applying this statistical analysis method, the groups clinically classified as SLRE and IGE were mostly classified as SLRE (71.4%) and IGE (57.9%). However, CLRE appeared difficult to classify (49.2%), and most children were classified as either SLRE (19%) or IGE (31.7%). CONCLUSION: The current opinion that CLRE is 'probably symptomatic' cannot be confirmed in all cases in this study. It is most likely that the current CLRE population consists of both children with eventually SLRE, as well as yet to be described syndromes to be classified as idiopathic epilepsies. We emphasize the need for separate studies regarding children with 'probably symptomatic' (cryptogenic) localization related epilepsy, as this will maximally help children, caretakers and treating physicians to achieve the best possible outcome. 相似文献
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Bruno Fautrel Thao Pham Gaël Mouterde Xavier Le Loët Philippe Goupille Francis Guillemin Philippe Ravaud Alain Cantagrel Maxime Dougados Xavier Puchal Jean Sibilia Martin Soubrier Xavier Mariette Bernard Combe pour le Club rhumatismes et inflammation pour la Socit franaise de rhumatologie 《Revue du Rhumatisme》2007,74(12):1301-1311
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Goddijn Mariette; Joosten Hannie; Knegt Lia; van der Veen Fulco; Franssen Maureen; Bonsel Gouke; Leschot Nico 《Human reproduction (Oxford, England)》2004,19(9):2172
Sir, We thank Mayumi Sugiura-Ogasawara et al. for their commentson our paper (Goddijn et al., 2004 相似文献
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Ivy van Dijke Phillis Lakeman Inge B. Mathijssen Mariëtte Goddijn Martina C. Cornel Lidewij Henneman 《European journal of human genetics : EJHG》2021,29(1):39
Couples at increased risk of having offspring with a specific genetic disorder who want to avoid having an affected child have several reproductive options including prenatal diagnosis (PND) and preimplantation genetic testing (PGT). In the future, non-invasive prenatal diagnosis (NIPD), germline gene editing (GGE) and somatic gene editing (SGE) might become available. This study explores if, and how, availability of new genetic technologies, including NIPD, GGE, SGE, would change reproductive decision-making of high-risk couples. In 2018, semi-structured interviews were conducted with 25 genetically at-risk couples. Couples previously had received genetic counselling for PND and PGT, and in most cases opted for (one of) these techniques, at one Dutch Clinical Genetics Center between 2013 and 2017. Considerations participants mentioned regarding the hypothetical use of NIPD, GGE and SGE, seem similar to considerations regarding PND and PGT and are reflected in underlying concepts. These include safety and burden for mother and child, and moral considerations. Couples generally favoured NIPD over PND as this would be safe and enables earlier diagnosis. Increased opportunities of having a ‘healthy’ embryo and less embryo disposal were considerations in favour of GGE. Some regarded GGE as unsafe and feared slippery slope scenarios. Couples were least favourable towards SGE compared to choosing for a genetic reproductive technology, because of the perceived burden for the affected offspring. With the possibly growing number of technological options, understanding high risk couples’ perspectives can assist in navigating the reproductive decision-making process. Counsellors should be prepared to counsel on more and complex reproductive options.Subject terms: Genetic testing, Genetic counselling, Genetic engineering 相似文献
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B. Denis A. Lefort R. M. Flipo F. Tubach M. Lemann P. Ravaud D. Salmon X. Mariette O. Lortholary 《Clinical microbiology and infection》2008,14(2):183-186
This study investigated the long-term outcome of patients with tuberculosis (TB) as a complication of tumour necrosis factor (TNF)-α blocker therapy. All TB cases ( n = 21) complicating TNF-α blocker therapy from French university hospitals were collated between January 2000 and September 2002. Outcome was assessed via a postal questionnaire during September 2005. The mortality rate after 4 years was 4.8%, and one patient had relapsed and six (29%) patients had recommenced TNF-α antagonist treatment, after appropriate anti-TB therapy, without reactivation. These data support the concept that TNF-α antagonists can be restarted in TB patients provided that adequate anti-TB treatment has been completed. 相似文献
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B Denis A Lefort R M Flipo F Tubach M Lemann P Ravaud D Salmon X Mariette O Lortholary 《Clinical microbiology and infection》2008,14(2):183-186
This study investigated the long-term outcome of patients with tuberculosis (TB) as a complication of tumour necrosis factor (TNF)-alpha blocker therapy. All TB cases (n = 21) complicating TNF-alpha blocker therapy from French university hospitals were collated between January 2000 and September 2002. Outcome was assessed via a postal questionnaire during September 2005. The mortality rate after 4 years was 4.8%, and one patient had relapsed and six (29%) patients had recommenced TNF-alpha antagonist treatment, after appropriate anti-TB therapy, without reactivation. These data support the concept that TNF-alpha antagonists can be restarted in TB patients provided that adequate anti-TB treatment has been completed. 相似文献
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Moulin B Deret S Mariette X Kourilsky O Imai H Dupouet L Marcellin L Kolb I Aucouturier P Brouet JC Ronco PM Mougenot B 《Journal of the American Society of Nephrology : JASN》1999,10(3):519-528
The objective of this study was to further characterize the clinical and immunopathologic features of heavy chain deposition disease (HCDD), a recently described entity. Four patients were diagnosed as having HCDD on a kidney biopsy. All presented with nodular glomerulosclerosis with deposition of gamma1 heavy chains lacking CH1 epitopes, but without light chains. Two different patterns were observed in the serum. First, patients 1 and 2 had a circulating monoclonal IgGlambda containing a short gamma1 heavy chain lacking CH1 epitopes, with an apparent molecular weight of 40 kD consistent with a complete CH1 deletion. Biosynthetic experiments also showed that the deleted heavy chain was produced in excess compared with light chains, and was secreted in vitro together with half Ig molecules, although these abnormal components were not detected by Western blot analysis of whole serum. Second, patients 3 and 4 had a circulating monoclonal IgG1lambda with an apparently normal, nondeleted heavy chain subunit, but serum fractionation followed by immunoblotting revealed an isolated monoclonal gamma1 chain lacking CH1 epitopes. These data strongly suggest that renal deposition of a CH1-deleted heavy chain circulating in low amounts in the serum as a free unassembled subunit is a major feature of HCDD. The CH1 deletion is most likely responsible for the premature secretion in blood of the heavy chain by a clone of plasma cells. 相似文献