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排序方式: 共有7836条查询结果,搜索用时 15 毫秒
121.
Laurence Dangers Jonathan Giovannelli Gilles Mangiapan Mikael Alves Naïke Bigé Jonathan Messika Elise Morawiec Mathilde Neuville Christophe Cracco Gaëtan Béduneau Nicolas Terzi Isabelle Huet Xavier Dhalluin Nathalie Bautin Jean-Jacques Quiot Corinne Appere-de Vecchi Thomas Similowski Cécile Chenivesse 《Chest》2021,159(4):1621-1629
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Maxence Meyer MD Lidia Calabrese MD Anita Meyer MD Florentin Constancias PhD Louise F. Porter MD PhD Marion Muller Manon Leitner Amandine Leitner Antonin Michaud Georges Kaltenbach MD PhD Elise Schmitt MD PhD Patrick Karcher MD Erik Sauleau MD PhD Saïd Chayer PhD HDR Floriane Zeyons MD Marianne Riou MD Soraya El Ghannudi Abdo MD Frédéric Blanc MD PhD Samira Fafi-Kremer PharmD PhD Aurélie Velay PharmD PhD Thomas Vogel MD PhD 《Journal of the American Geriatrics Society》2021,69(5):1167-1170
124.
11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency
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Dorota Jurkiewicz Monika Kugaudo Anna Tańska Angelika Wawrzkiewicz‐Witkowska Agnieszka Tomaszewska Marzena Kucharczyk Agata Cieślikowska Elżbieta Ciara Małgorzata Krajewska‐Walasek 《Pediatrics international》2015,57(3):486-491
Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith–Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation‐sensitive multiplex ligation‐dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay. 相似文献
125.
Mapping and ablation of polymorphic ventricular tachycardia after myocardial infarction 总被引:6,自引:0,他引:6
Szumowski L Sanders P Walczak F Hocini M Jaïs P Kepski R Szufladowicz E Urbanek P Derejko P Bodalski R Haïssaguerre M 《Journal of the American College of Cardiology》2004,44(8):1700-1706
OBJECTIVES: The goal of this study was to describe the mapping and ablation of polymorphic ventricular tachycardia (VT) after myocardial infarction (MI). BACKGROUND: The initiating mechanisms of polymorphic VT after MI have not been reported. METHODS: Five patients (four males; age 61 +/- 7 years) with recurrent episodes of polymorphic VT after anterior MI (left ventricular ejection fraction 32 +/- 7%) despite revascularization and antiarrhythmic drugs were studied. All patients demonstrated frequent ventricular premature beats (PBs) initiating polymorphic VT. Pace mapping and activation mapping were used to identify the earliest site of PB activity. The presence of a Purkinje potential preceding PB defined its origin from the Purkinje network. Electroanatomic voltage mapping was performed to delineate the extent of MI. RESULTS: The PBs were observed in all cases to arise from the Purkinje arborization in the MI border zone. These PBs were right bundle-branch block in all five patients, with morphologic variations in the limb leads in four; one also had a left bundle-branch block morphology. The coupling interval of the PB to the preceding QRS complex demonstrated significant variations (320 to 600 ms). During PB, the Purkinje potential at the same site preceded the QRS complex by 20 to 160 ms and was associated with different morphologies. Repetitive Purkinje activity was documented during polymorphic VT. Splitting of Purkinje activity and Purkinje to muscle conduction block were also observed. Ablation at these sites eliminated all PBs. At 16 +/- 5 months follow-up using defibrillator memory interrogation, no patient has had recurrence of arrhythmia. CONCLUSIONS: The Purkinje arborization along the border-zone of scar has an important role in the mechanism of polymorphic VT in patients after MI. Ablation of the local Purkinje network allows suppression of polymorphic VT. 相似文献
126.
Asynchronism and right ventricular pacing 总被引:2,自引:0,他引:2
Thambo JB Bordachar P Lafitte S Crepin D Garrigue S Reuter S Roudaut R Haïssaguerre M Clementy J Jimenez M 《Archives des maladies du coeur et des vaisseaux》2005,98(5):519-523
In patients with congenital heart block (CHB), dual-chamber pacing restores physiological heart rate and atrio-ventricular synchronization. However, patients with narrow QRS junctional escape rhythm may be deleteriously affected by long-term, permanent, apical ventricular pacing. We assessed the impact of apical ventricular pacing on echocardiographic ventricular dyssynchrony and hemodynamic parameters. METHODS: Fourteen CHB adults (23 +/- years, 58% male), with a DDD transvenous pacemaker and a junctional escape rhythm (QRS<120 ms) before implantation, were studied. Echocardiography coupled with tissue Doppler imaging (TDI) and Strain rate was performed in spontaneous rhythm (VVI mode 30/mn) and during atrio-synchronized ventricular pacing. RESULTS: The heart rate (43 +/- 09 vs 68 +/- 07: p<0.01), cardiac output (2.9 +/- 0.7 vs 3.7 +/- 0.6 L/min) and left ventricular filling time (325 +/- 38 vs 412 +/- 51 ms; p<0.01) were significantly less in the escape spontaneous rhythm compared with atrio-ventricular synchronized apical pacing. However, interventricular dyssynchrony (28 +/- 12 vs 59 +/- 25 ms, p<0.05), intra-left ventricular dyssynchrony (36 +/- 11 vs 57 +/- 29 ms; p<0.05), extent of left ventricular myocardium displaying delayed longitudinal contraction (26 +/- 10 vs 39 +/- 17%: p<0.05) were significantly less in the escape rhythm compared with paced rhythm. CONCLUSION: Once implanted with a DDD pacemaker, CHB patients present with increased cardiac output secondary to the restoration of physiological heart rate and improved diastolic function. However, the apical site is not optimal, as it creates detrimental ventricular dyssynchrony in patients with previous nearly physiological ventricular activation. Alternative pacing sites should be investigated. 相似文献
127.
Solal-Céligny P Roy P Colombat P White J Armitage JO Arranz-Saez R Au WY Bellei M Brice P Caballero D Coiffier B Conde-Garcia E Doyen C Federico M Fisher RI Garcia-Conde JF Guglielmi C Hagenbeek A Haïoun C LeBlanc M Lister AT Lopez-Guillermo A McLaughlin P Milpied N Morel P Mounier N Proctor SJ Rohatiner A Smith P Soubeyran P Tilly H Vitolo U Zinzani PL Zucca E Montserrat E 《Blood》2004,104(5):1258-1265
The prognosis of follicular lymphomas (FL) is heterogeneous and numerous treatments may be proposed. A validated prognostic index (PI) would help in evaluating and choosing these treatments. Characteristics at diagnosis were collected from 4167 patients with FL diagnosed between 1985 and 1992. Univariate and multivariate analyses were used to propose a PI. This index was then tested on 919 patients. Five adverse prognostic factors were selected: age (> 60 years vs 60 years), Ann Arbor stage (III-IV vs I-II), hemoglobin level (< 120 g/L vs 120 g/L), number of nodal areas (> 4 vs 4), and serum LDH level (above normal vs normal or below). Three risk groups were defined: low risk (0-1 adverse factor, 36% of patients), intermediate risk (2 factors, 37% of patients, hazard ratio [HR] of 2.3), and poor risk ( 3 adverse factors, 27% of patients, HR = 4.3). This Follicular Lymphoma International Prognostic Index (FLIPI) appeared more discriminant than the International Prognostic Index proposed for aggressive non-Hodgkin lymphomas. Results were very similar in the confirmation group. The FLIPI may be used for improving treatment choices, comparing clinical trials, and designing studies to evaluate new treatments. 相似文献
128.
Endocrine disorders seen in antiphospholipid syndrome are rare. To date, these disorders have generally involved Addison's disease. Recently reports have appeared of a few cases of primary or secondary hypopituitarism associated with primary antiphospholipid syndrome. We report the case of a young female patient who presented neuroendocrine symptoms during the postpartum period associated with an antiphospholipid syndrome. Hormone assessment showed complete anterior hypopituitarism and antiphospholipid antibodies were positive. We discuss the clinical, biological and radiological features observed in our patient and compare results with cases reported in the literature. This case illustrates the importance of screening for antiphospholipid syndrome in the etiological work-up of hypopituitarism associated with a history of recurrent thrombosis. 相似文献
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