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1.
Eur J Paediatr Neurol ; 28: 142-150, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32758414

RESUMO

OBJECTIVE: The number of studies investigating and understanding the disease mechanisms of Duchenne muscular dystrophy (DMD) in human clinical trials have increased substantially over the last decade. Suitable clinical instruments for the measurement of disease progress and drug efficiency are mandatory, but currently not available, especially in the youngest patients. The aim of this study was to detect a reproducible pattern of muscle involvement in early stages potentially preceding evidence of motor regression. MATERIAL AND METHODS: A cohort of 25 DMD patients aged 1-6 years at the first presentation were examined at multiple timepoints and compared with age-matched healthy controls. Muscle ultrasound was quantified using computer-analyzed gray scale levels (GSL) and blinded visual rating, using a modified Heckmatt scale. RESULTS: Changes in muscle echogenicity in DMD patients occurred very early, clearly preceding motor regression and in some cases, even before the motor plateau phase was reached. Visual rating and GSL identified the earliest changes in the proximal adductor magnus muscle. CONCLUSION: Muscle ultrasound can be used as an additional method to assess the disease progression and for decision-making in paucisymptomatic DMD patients. Sonographic changes in the ad-ductor magnus muscle seem to be the first detectable changes with a recognisable pattern.


Assuntos
Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Distrofia Muscular de Duchenne/diagnóstico por imagem , Distrofia Muscular de Duchenne/patologia , Criança , Pré-Escolar , Progressão da Doença , Humanos , Lactente , Masculino , Ultrassonografia/métodos
2.
Nervenarzt ; 88(12): 1367-1376, 2017 Dec.
Artigo em Alemão | MEDLINE | ID: mdl-29063260

RESUMO

Childhood arterial ischemic stroke differs in essential aspects from adult stroke. It is rare, often relatively unknown among laypersons and physicians and the wide variety of age-specific differential diagnoses (stroke mimics) as well as less established care structures often lead to a considerable delay in the diagnosis of stroke. The possible treatment options in childhood are mostly off-label. Experiences in well-established acute treatment modalities in adult stroke, such as thrombolysis and mechanical thrombectomy are therefore limited in children and only based on case reports and case series. The etiological clarification is time-consuming due to the multitude of risk factors which must be considered. Identifying each child's individual risk profile is mandatory for acute treatment and secondary prevention strategies and has an influence on the individual outcome. In addition to the clinical neurological outcome the residual neurological effects of stroke on cognition and behavior are decisive for the integration of the child into its educational, later professional and social environment.


Assuntos
Acidente Vascular Cerebral/diagnóstico , Anticoagulantes/uso terapêutico , Diagnóstico Tardio , Diagnóstico Diferencial , Humanos , Fatores de Risco , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/terapia , Trombectomia , Terapia Trombolítica
3.
Nervenarzt ; 88(12): 1402-1410, 2017 Dec.
Artigo em Alemão | MEDLINE | ID: mdl-28956079

RESUMO

Migraine as primary headache is a life-long disease which is relevant for the quality of life and is based on complex genetics. It often starts in childhood with symptoms typical for the specific age. These show different nuances compared to the migraine symptoms in adults, for example, regarding (bilateral/unilateral) localization of the acute migraine headache. Only over the course of years-during adolescence and young adulthood-do the more specific symptoms as defined by the International Classification of Headache Disorders (ICHD 3 beta) develop. In this article we focus on the clinical specifics of children and adolescents with migraine. We elaborately refer to the trigeminocervical complex (TCC) because it forms a conceptual bridge for the understanding of migraine, for psychoeducation, and for therapeutic options. We pragmatically discuss options and limits of treatments.


Assuntos
Transtornos de Enxaqueca/diagnóstico , Transtornos de Enxaqueca/fisiopatologia , Músculos do Pescoço/fisiopatologia , Analgésicos/uso terapêutico , Terapia Combinada , Traumatismos Craniocerebrais/complicações , Traumatismos Craniocerebrais/fisiopatologia , Diagnóstico Diferencial , Humanos , Transtornos de Enxaqueca/genética , Transtornos de Enxaqueca/terapia , Fatores de Risco , Estimulação Magnética Transcraniana , Nervo Trigêmeo/fisiopatologia
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