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1.
Rofo ; 187(7): 555-60, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-25831469

RESUMEN

PURPOSE: The efficacy of i. v. thrombolysis in acute stroke with high clot burden is limited. Successful recanalization is very unlikely if the thrombus length exceeds 7 mm. Thus this retrospective controlled study evaluated the efficacy and safety of neurothrombectomy in the treatment of acute embolic stroke in patients selected by a thrombus length of ≥ 8 mm using the stent retriever Trevo(®) device. MATERIALS AND METHODS: 40 patients with acute occlusion of the anterior intracranial arteries with a thrombus length of ≥ 8 mm were treated with neurothrombectomy. We compared the outcome with a historical cohort of 42 patients with a thrombus length of ≥ 8 mm that received i. v. thrombolysis only. Clinical outcome was assessed by modified Rankin scale in both groups at discharge and on day 90. RESULTS: Patients did not differ in age, mRS on admission, thrombus length or time from symptom onset to i. v. thrombolysis, but the thrombectomy group had higher NIHSS on admission. Successful recanalization was achieved in 33/40 patients (83 %) with neurothrombectomy. 15 patients received i. v. thrombolysis prior to neurothrombectomy. Median mRS at discharge was 3.5 (1.25 - 5) vs. 5 (4 - 6; p < 0.01) and on day 90 3 (1 - 4) vs. 5 (4 - 6; p < 0.01). Symptomatic hemorrhage occurred in 3 vs. 7 patients. 3 vs. 17 patients died within 90 days (thrombectomy vs. control each). There were only a few intervention-related complications. CONCLUSION: Thrombectomy in acute stroke with high clot burden using the Trevo(®) device has a low risk and improved clinical outcome compared to i. v. thrombolysis alone. Treatment selection by a clot length of ≥ 8 mm might be a powerful approach to improve the outcome of mechanical thrombectomy. KEY POINTS: • Clot length of ≥ 8 mm might be a valuable criterion for indicating neurothrombectomy. • Thrombolysis only in high clot burden is associated with poor clinical outcome. • Thrombectomy using the Trevo(®) stent retriever is safe and effective.


Asunto(s)
Fibrinolíticos/administración & dosificación , Embolia Intracraneal/terapia , Trombolisis Mecánica/instrumentación , Accidente Cerebrovascular/terapia , Terapia Trombolítica/métodos , Adulto , Anciano , Anciano de 80 o más Años , Fibrinolíticos/efectos adversos , Fibrinolíticos/uso terapéutico , Humanos , Inyecciones Intravenosas , Trombolisis Mecánica/efectos adversos , Trombolisis Mecánica/métodos , Persona de Mediana Edad , Hemorragia Posoperatoria/etiología , Hemorragia Posoperatoria/prevención & control , Diseño de Prótesis , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Stents , Terapia Trombolítica/efectos adversos , Resultado del Tratamiento , Adulto Joven
2.
Eur J Neurol ; 18(7): 972-9, 2011 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-21244579

RESUMEN

BACKGROUND AND PURPOSE: To compare psychosocial burden in patients with essential tremor (ET) in an outpatient (OPC)- and a community-based cohort (CBC). METHODS: A sample of outpatients of a tertiary referral center (n = 180) and a community-based sample (n = 100) with ET were asked for study participation. Psychosocial aspects were assessed by a questionnaire on psychosocial aspects of ET, neuropsychological scales, quality of life, personality traits, and coping strategies. RESULTS: One hundred and seven patients of the OPC and 90 individuals of the CBC participated and their results are descriptively presented. Statistical analysis was restricted to 38 pairs of OPC and CBC individuals matched for age, sex, and tremor severity. One-third of these individuals reported a profound impairment in everyday or professional life. Neuropsychological scales showed a severe depression in 8% of the individuals and pathologic values for the general level of psychiatric symptoms in 26%. The main coping strategy was 'active problem-orientated coping'. Patients of the OPC perceived a more severe impact of ET on their life. Multivariate analysis revealed the Beck Depression Inventory score as the only predictive factor for the outcome variables, physical and mental component scores, of the SF-12 health survey. CONCLUSIONS: ET causes a significant psychosocial impairment, which does depend on symptom severity but also on mood with depression as the main driving factor and other so far undetermined factors.


Asunto(s)
Costo de Enfermedad , Temblor Esencial/psicología , Pacientes Ambulatorios/psicología , Actividades Cotidianas , Adaptación Psicológica , Anciano , Estudios de Cohortes , Depresión/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Escalas de Valoración Psiquiátrica , Características de la Residencia , Encuestas y Cuestionarios
3.
Hum Mutat ; 29(2): 331-2, 2008 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-18205193

RESUMEN

Myoclonus-dystonia (M-D) is an autosomal-dominant movement disorder caused by mutations in SGCE. We investigated the frequency and type of SGCE mutations with emphasis on gene dosage alterations and explored the associated phenotypes. We tested 35 M-D index patients by multiplex ligation-dependent probe amplification (MLPA) and genomic sequencing. Mutations were found in 26% (9/35) of the cases, all but three with definite M-D. Two heterozygous deletions of the entire SGCE gene and flanking DNA and a heterozygous deletion of exon 2 only were detected, accounting for 33% (3/9) of the mutations found. Both large deletions contained COL1A2 and were additionally associated with joint problems. Further, we discovered one novel small deletion (c.771_772delAT, p.C258X) and four recurrent point mutations (c.289C>T, p.R97X; c.304C>T, p.R102X; c.709C>T, p.R237X; c.1114C>T, p.R372X). A Medline search identified 22 articles on SGCE mutational screening. Sixty-four unrelated M-D patients were described with 41 different mutations. No genotype-phenotype association was found, except in patients with deletions encompassing additional genes. In conclusion, a rigorous clinical preselection of patients and careful accounting for non-motor signs should precede mutational tests. Gene dosage studies should be included in routine SGCE genetic testing.


Asunto(s)
Eliminación de Gen , Mioclonía/genética , Sarcoglicanos/genética , Adolescente , Adulto , Anciano , Secuencia de Bases , Niño , Preescolar , Análisis Mutacional de ADN , Demografía , Exones/genética , Femenino , Genoma Humano , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Linaje , Fenotipo , Literatura de Revisión como Asunto
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