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排序方式: 共有3573条查询结果,搜索用时 375 毫秒
71.
Mignot A Bridoux F Thierry A Varnous S Pujo M Delcourt A Gombert JM Goujon JM Favreau F Touchard G Herpin D Jaccard A 《Haematologica》2008,93(3):e32-e35
Recurrence in the allograft and progression in other organs increase mortality after cardiac transplantation in AL amyloidosis. Survival may be improved after suppression of monoclonal light chain (LC) production following high dose melphalan and autologous stem cell transplantation (HDM/ASCT). However, because of high treatment related mortality, this tandem approach is restricted to few patients without significant extra-cardiac involvement. A diagnosis of systemic AL amyloidosis was established in a 45-year old patient with congestive heart failure related to restrictive cardiomyopathy, nephrotic syndrome, peripheral neuropathy, postural hypotension, macroglossia, and lambda LC monoclonal gammopathy. After melphalan and dexamethasone (M-Dex) therapy, which resulted in 80% reduction of serum free lambda LC, he underwent orthotopic cardiac transplantation. Two years later, he remains in a sustained hematologic remission, with no evidence of allograft or extra-cardiac amyloid accumulation. M-Dex should be considered as an alternative therapy in AL amyloid heart transplant recipients ineligible for HDM/ASCT. 相似文献
72.
Jean-Luc Van Laethem MD Vincent Bourgeois MD Jasmine Parma PhD Myriam Delhaye MD Pascale Cochaux PhD Thierry Velu MD Jacques Devière MD Michel Cremer MD 《Gastrointestinal endoscopy》1998,47(6):479-485
Background: Ki-ras mutation analysis from material collected during ERCP has been claimed to improve the diagnosis of pancreatic and bile duct carcinomas as compared with conventional cytology. Our aim was to study the relative contribution of both Ki-ras analysis and brush cytology in patients with a significant stricture at ERCP. Methods: Brushings were collected in duplicate for both analyses in 142 patients in whom a definitive diagnosis was obtained by histology or a minimal follow-up of 6 months. Results: For pancreatic strictures, sensitivity, specificity, and accuracy of Ki-ras analysis vs. cytology in detecting malignancy were 81% vs. 66%, 72% vs. 100%, and 70% vs. 74%, respectively. For biliary strictures, they were 25% vs. 42%, 100% vs. 100%, and 35% vs. 43%, respectively. The combination of the two methods only marginally increased their sensitivity and accuracy in both types of strictures. Conclusion: Ki-ras analysis is a sensitive method for diagnosing pancreatic but not biliary carcinoma. However, its specificity is lowered by a high frequency of Ki-ras mutations in patients with chronic pancreatitis (25%) who did not manifest cancer development within a 6-month follow-up period. In pancreatic duct strictures, brush cytology appears to be more specific in detecting malignancy; specificity for Ki-ras and cytology are equivalent for the diagnosis of malignant bile duct strictures. Therefore, making a clinical decision on the sole basis of Ki-ras analysis is probably not justified in the majority of the cases. (Gastrointest Endosc 1998;47:479-85.) 相似文献
73.
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment,Spastic Paraparesis,Axonal Neuropathy,and Cerebellar Atrophy
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Jae‐Ran Lee Myriam Srour Doyoun Kim Fadi. F. Hamdan So‐Hee Lim Catherine Brunel‐Guitton Jean‐Claude Décarie Elsa Rossignol Grant A. Mitchell Allison Schreiber Rocio Moran Keith Van Haren Randal Richardson Joost Nicolai Karin M.E.J. Oberndorff Justin D. Wagner Kym M. Boycott Elisa Rahikkala Nella Junna Henna Tyynismaa Inge Cuppen Nienke E. Verbeek Connie T.R.M. Stumpel Michel A. Willemsen Sonja A. de Munnik Guy A. Rouleau Eunjoon Kim Erik‐Jan Kamsteeg Tjitske Kleefstra Jacques L. Michaud 《Human mutation》2015,36(1):69-78
KIF1A is a neuron‐specific motor protein that plays important roles in cargo transport along neurites. Recessive mutations in KIF1A were previously described in families with spastic paraparesis or sensory and autonomic neuropathy type‐2. Here, we report 11 heterozygous de novo missense mutations (p.S58L, p.T99M, p.G102D, p.V144F, p.R167C, p.A202P, p.S215R, p.R216P, p.L249Q, p.E253K, and p.R316W) in KIF1A in 14 individuals, including two monozygotic twins. Two mutations (p.T99M and p.E253K) were recurrent, each being found in unrelated cases. All these de novo mutations are located in the motor domain (MD) of KIF1A. Structural modeling revealed that they alter conserved residues that are critical for the structure and function of the MD. Transfection studies suggested that at least five of these mutations affect the transport of the MD along axons. Individuals with de novo mutations in KIF1A display a phenotype characterized by cognitive impairment and variable presence of cerebellar atrophy, spastic paraparesis, optic nerve atrophy, peripheral neuropathy, and epilepsy. Our findings thus indicate that de novo missense mutations in the MD of KIF1A cause a phenotype that overlaps with, while being more severe, than that associated with recessive mutations in the same gene. 相似文献
74.
75.
What do people appreciate in physicians' communication? An international study with focus groups using videotaped medical consultations
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Maria A. Mazzi MSc Michela Rimondini PhD Myriam Deveugele PhD Christa Zimmermann PhD Francesca Moretti PhD Liesbeth van Vliet PhD Giuseppe Deledda MSc Ian Fletcher PhD Jozien Bensing PhD 《Health expectations》2015,18(5):1215-1226
Background
The literature shows that the quality of communication is usually determined from a professional perspective. Patients or lay people are seldom involved in the development of quality indicators or communication.Objective
To give voice to the lay people perspective on what constitutes ‘good communication’ by evoking their reactions to variations in physician communication.Design
Lay people from four different countries watched the same videotaped standardized medical encounters and discussed their preferences in gender‐specific focus groups who were balanced in age groups.Setting and participants
Two hundred and fifty‐nine lay people (64 NL, 72 IT, 75 UK and 48 BE) distributed over 35 focus groups of 6–8 persons each.Main variables studied
Comments on doctors'' behaviours were classified by the GULiVer framework in terms of contents and preferences.Results
Participants prevalently discussed ‘task‐oriented expressions’ (39%: competency, self‐confident, providing solutions), ‘affective oriented/emotional expressions'' (25%: empathy, listening, reassuring) and ‘process‐oriented expressions'' (23%: flexibility, summarizing, verifying). ‘Showing an affective attitude’ was most appreciated (positive percentage within category: 93%, particularly facilitations and inviting attitude), followed by ‘providing solution’ (85%). Among disfavoured behaviour, repetitions (88%), ‘writing and reading’ (54%) and asking permission (42%) were found.Conclusions
Although an affective attitude is appreciated by nearly everybody, people may vary widely in their communication needs and preferences: what is ‘good communication’ for one person may be disliked or even a source of irritation for another. A physician should be flexible and capable of adapting the consultation to the different needs of different patients. This challenges the idea of general communication guidelines. 相似文献76.
Ziadé Nelly Bouzamel Maria Mrad-Nakhlé Myriam Abi Karam Ghada Hmamouchi Ihsane Abouqal Redouane Farah Wehbeh 《Clinical rheumatology》2021,40(10):3929-3940
Clinical Rheumatology - The primary objective was to evaluate the association between weather variables and joint pain in patients with chronic rheumatic diseases (CRD: rheumatoid arthritis (RA),... 相似文献
77.
Francesco Lo Coco Giuseppe Avvisati Daniela Diverio rea Biondi Pier Paolo Pandolfi † Myriam Alcalay † Giulio De Rossi Maria C. Petti Angelo Cantù-Rajnoldi ‡ Daniela Pasqualetti Mauro Nanni Susanna Fenu Marina Frontani Franco Mandelli 《British journal of haematology》1991,78(4):494-499
We have used genomic probes which specifically recognize DNA rearrangements of the RAR-alpha locus on chromosome 17q21 in patients with acute promyelocytic leukaemia (APL) and acute myeloid leukaemia (AML) subtypes. Molecular data were examined in comparison with morphological and immunophenotypic characterization at diagnosis in 20 hypergranular FAB M3 cases, five microgranular APL (M3v), 51 non-M3 AML and 12 myeloid CML blast crises. Rearrangements of the RAR-alpha locus were only detected in 23/25 APL cases and in none of the other FAB subtypes analysed. Surface marker characterization showed a consistent immunophenotypic profile--HLADR negative, CD9 and CD13/33 positive--in all M3 and M3v cases. Neither HLADR negativity nor CD9 positivity were associated with RAR-alpha rearrangements in non M3 AML. Our data indicate that RAR-alpha gene rearrangements are relevant diagnostic features of both M3 and M3v, and may prove useful molecular marker for follow-up analysis in APL patients. 相似文献
78.
Dr. Myriam Merle-Melet M. D. C. Dopff M. D. Prof. A. Gerard M. D. Prof. D. Regent M. D. Prof. D. Mainard M. D. Prof. J-P. Delagoutte M. D. J-N. Tamisier M. D. P. Ross M. D. 《Infection》1994,22(5):353-355
Summary We describe a 53-year-old alcoholic man who presented with hip septic arthritis due toBacteroides fragilis. This arthritis involved a severe destruction of the femoral head, which was completely devitalized. Recovery was achieved after 4 months of antimicrobial therapy with imipenem/cilastatin plus metronidazole, surgical debridement of the necrotic tissues and four sessions of hyperbaric oxygen.
Ein ungewöhnlicher Fall von septischer Hüftarthritis durchBacteroides fragilis bei einem Alkoholiker
Zusammenfassung Wir berichten über einen Fall von septischer Hüftarthritis durchBacteroides fragilis bei einem 53 Jahre alten Alkoholiker. Die Arthritis führte zu einer schweren Femurkopfzerstörung mit völliger Devitalisierung. Nach chirurgischem Debridement des nekrotischen Gewebes, 4 Monaten Behandlung mit Imipenem/Cilastatin und Metronidazol und vier Behandlungen mit hyperbarem Sauerstoff trat Heilung ein.相似文献
79.
Chemistry is the central science for value creation by physical products in the socio-economic system. Unsustainable processes over many decades have led to pressure on the planet and an urgent need for prioritizing sustainable development on a global level. Due to the central role of chemistry, the chemistry profession is an important stakeholder group to shape the transformation towards sustainable development. In order to provide relevant skills, higher education in chemistry requires a view of chemistry in the context of the framework of sustainability and the uptake of new content that is not covered in conventional teaching of chemistry. Such content includes environmental chemistry and toxicology, benign design of chemicals (teaching of chemistry), but also a broader context such as alternative business models and overarching knowledge of international policies and strategies to implement change with respect to chemical industry, chemical products and business (teaching about chemistry) in favor of sustainable development. In this paper, we describe a first of its kind program following this approach: An M.Sc. Sustainable Chemistry. It addresses the above mentioned topics and aims for international professionals of the chemical sector. 相似文献
80.
David Hassanein Berro Solène Collet Jean-Sébastien Guillamo Ararat Chakhoyan Jean-Marc Constans Emmanuèle Lechapt-Zalcman Jean-Michel Derlon Mathieu Hatt Dimitris Visvikis Stéphane Guillouet Cécile Perrio Myriam Bernaudin Samuel Valable 《Journal of neuroradiology. Journal de neuroradiologie》2021,48(4):230-231