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1.
Nguyen K Bassez G Bernard R Krahn M Labelle V Figarella-Branger D Pouget J Hammouda el H Béroud C Urtizberea A Eymard B Leturcq F Lévy N 《Human mutation》2005,26(2):165
DYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb-Girdle Muscular Dystrophy type 2B, the two main phenotypes recognized in dysferlinopathies. Dysferlin deficiency in muscle is the most relevant feature for the diagnosis of dysferlinopathy and prompts the search for mutations in DYSF. DYSF, located on chromosome 2p13, contains 55 coding exons and spans 150 kb of genomic DNA. We performed a genomic analysis of the DYSF coding sequence in 34 unrelated patients from various ethnic origins. All patients showed an absence or drastic decrease of dysferlin expression in muscle. A primary screening of DYSF using SSCP or dHPLC of PCR products of each of 55 exons of the gene was followed by sequencing whenever a sequence variation was detected. All together, 54 sequence variations were identified in DYSF, 50 of which predicting either a truncated protein or one amino-acid substitution and most of them (34 out of 54) being novel. In 23 patients, we identified two pathogenic mutations, while only one was identified in 11 patients. These mutations were widely spread in the coding sequence of the gene without any mutational "hotspot." 相似文献
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目的 对上海人群4p35位点D4Z4重复序列进行研究,分析D4Z4的多态性。方法 191名正常上海人的基因组DNA经EooR I/Bln I双酶水解后,应用脉冲场凝胶电泳及Southem印迹测定其染色体4p35位点的D4Z4片段长度,并对短的D4Z4片段Kpn I酶进行部分酶切以计数其D4Z4串联重复序列数。结果 在191名正常上海人群中,有17人(占8.9%)携带短的D4Z4片段,其长度在22-34kb之间;其中16人携带的短D4Z4片段位于4q35位点,1人携带的短D4Z4片段为4q35→10q26。结论 面肩肱型肌营养不良症的发病虽与4q35位点D4Z4片段的串联重复序列数减少有关,但上海人群中携带4q35位点短的D4Z4片段个体的比例明显高于西方人群,提示其他因素可能也参与面肩肱型肌营养不良症的发病。 相似文献
3.
Marianna S. Thomas FRCR James A. Wimhurst FRCS John F. Nolan FRCS Andoni P. Toms FRCR PhD 《HSS journal》2013,9(3):247-256
Background
Adverse reaction to metal debris is a relatively recently described and often a silent complication of metal-on-metal (MOM) total hip replacements (THR). The Norfolk & Norwich University Hospital has been performing metal artefact reduction (MARS) MRI for 8 years in a variety of different types of MOM THR.Questions/purposes
The aims of this review are to describe the experience of using MARS MRI in Norwich and to compare our experience with that published by other groups.Methods
A MEDLINE keyword search was performed for studies including MRI in MOM THR. Relevant publications were reviewed and compared with published data from the Norfolk & Norwich University Hospital. The similarities and differences between these data were compared and possible explanations for these discussed.Results
MARS MRI appears to be the most useful tool for diagnosing, staging and monitoring adverse reactions to metal debris (ARMD). There appears to be no clinically useful association between clinical and serological markers of disease and the severity of MR findings. Although severe early ARMD is associated with significant morbidity, mild disease is often stable for years. If patients with normal initial MR examinations develop ARMD, this usually occurs 7 years. A 1-year interval between MRI examinations is reasonable in asymptomatic patients.Conclusions
There is a general international consensus that ARMD is prevalent in symptomatic and asymptomatic patients with MOM THR and that while appearances vary with the type of prosthesis, there are characteristic features that make MARS MRI essential for diagnosis, staging and surveillance of the disease. 相似文献4.
Aize Pellon Andoni Ramirez-Garcia Idoia Buldain Aitziber Antoran Leire Martin–Souto Aitor Rementeria Fernando L. Hernando 《International journal of antimicrobial agents》2018,51(1):10-15
The number of fungal isolates resistant to antifungal drugs has increased dramatically over the last few years and has become an important concern for clinicians. Among these isolates, fungi showing multidrug resistance are particularly worrying because of the difficulties associated with their treatment. These factors hamper the successful recovery of patients and drastically raise mortality rates. Antifungal resistance is multifactorial and several mechanisms in different fungi have been described. There is a need to study these mechanisms in depth; however, the study of antifungal drug resistance separately for each individual species makes progress in the field very slow and tedious. The selection of a multiresistant microorganism as a model for understanding resistance mechanisms and extrapolating the results to other species could help in the search for a solution. In this mini-review, we describe the pathobiology of Lomentospora (Scedosporium) prolificans, paying special attention to its intrinsic resistance to all currently available antifungal agents. The characteristics of L. prolificans offer several advantages: the possibility of using a single microorganism for the study of resistance to different drugs, even cases of double and triple resistance; it is biologically safe for society in general as no new genetically–modified strains are needed for the experiments; it is homologous with other fungal species, and there is repetitiveness between different strains. In conclusion, we propose L. prolificans as a candidate for consideration as a fungal model for the study of resistance mechanisms against antifungal agents. 相似文献
5.
Abstract: The distinction between hepatobiliary cystadenoma or cystadenocarcinoma and simple hepatic cyst complicated by intracystic hemorrhage may prove difficult to determine on the sole basis of clinical and radiological features because of the presence of intracystic structures and septations well-demonstrated by ultrasound examination in both situations. We investigated four patients with various types of hepatic cysts, in whom diagnostic difficulties led to further investigations. In this small group, CA 19–9 serum levels were abnormal only in the two patients with cystadenoma or cystadenocarcinoma. Cystic fluid CA 19–9 values were also five times higher in cystadenoma and cystadenocarcinoma than in other benign lesions. Our data thus suggest that the determination of serum and cyst fluid CA 19–9 may be of help in distinguishing between hemorrhagic simple cyst and cystadenoma or cystadenocarcinoma. 相似文献
6.
Gilles Morin Valrie Biancalana Andoni Echaniz‐Laguna Jean‐Baptiste Noury Xavire Lornage Maurizio Moggio Michela Ripolone Raffaella Violano Pascale Marcorelles Denis Marchal Florence Renaud Claude‐Alain Maurage Cline Tard Jean‐Marie Cuisset Jocelyn Laporte Johann Bhm 《Human mutation》2020,41(1):17-37
Calcium (Ca2+) acts as a ubiquitous second messenger, and normal cell and tissue physiology strictly depends on the precise regulation of Ca2+ entry, storage, and release. Store‐operated Ca2+ entry (SOCE) is a major mechanism controlling extracellular Ca2+ entry, and mainly relies on the accurate interplay between the Ca2+ sensor STIM1 and the Ca2+ channel ORAI1. Mutations in STIM1 or ORAI1 result in abnormal Ca2+ homeostasis and are associated with severe human disorders. Recessive loss‐of‐function mutations impair SOCE and cause combined immunodeficiency, while dominant gain‐of‐function mutations induce excessive extracellular Ca2+ entry and cause tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK). TAM and STRMK are spectra of the same multisystemic disease characterized by muscle weakness, miosis, thrombocytopenia, hyposplenism, ichthyosis, dyslexia, and short stature. To date, 42 TAM/STRMK families have been described, and here we report five additional families for which we provide clinical, histological, ultrastructural, and genetic data. In this study, we list and review all new and previously reported STIM1 and ORAI1 cases, discuss the pathomechanisms of the mutations based on the known functions and the protein structure of STIM1 and ORAI1, draw a genotype/phenotype correlation, and delineate an efficient screening strategy for the molecular diagnosis of TAM/STRMK. 相似文献
7.
Andoni Echaniz-Laguna MD PhD Xavière Lornage PhD Pascal Laforêt MD PhD Mette C. Orngreen MD Evelina Edelweiss PhD Guy Brochier PhD Mai T. Bui MS Roberto Silva-Rojas MS Catherine Birck PhD Béatrice Lannes MD PhD Norma B. Romero MD PhD John Vissing MD PhD Jocelyn Laporte PhD Johann Böhm PhD 《Annals of neurology》2020,88(2):274-282
8.
Hajer El Oussini Hanna Bayer Jelena Scekic-Zahirovic Pauline Vercruysse Jérôme Sinniger Sylvie Dirrig-Grosch Stéphane Dieterlé Andoni Echaniz-Laguna Yves Larmet Kathrin Müller Jochen H. Weishaupt Dietmar R. Thal Wouter van Rheenen Kristel van Eijk Roland Lawson Laurent Monassier Luc Maroteaux Anne Roumier Philip C. Wong Leonard H. van den Berg Albert C. Ludolph Jan H. Veldink Anke Witting Luc Dupuis 《Acta neuropathologica》2016,131(3):465-480
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Granulomatous slack skin: treatment with extensive surgery and review of the literature 总被引:2,自引:0,他引:2
We report an 11-year follow-up of a case of granulomatous slack skin. The patient was first treated surgically followed by a rapid relapse. Then he was treated by alpha-interferon during 15 months. When this treatment was stopped, the disease relapsed again. Extensive surgery was undertaken. Recently, a new relapse has occurred which was again treated by extensive surgery. No other manifestation of a lymphoproliferative disorder appeared. The clinical, histological, immunohistochemical, ultrastructural, molecular biological and genetic studies with a review of 39 other cases described in the literature are presented. 相似文献