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Neuromuskuläre Übertragungsstörungen, Slide Kit
No full textIn diesem Additional Slide Kit sind aktuelle Informationen über Diagnostik und Therapie von neuromuskulären Übertragungsstörungen auf rund 69 Folien zusammengefasst, welche für Weiterbildungen und Selbststudium verwendet werden können. Hintergrundinformationen zu den einzelnen Folien können dabei den Notizenseiten entnommen werden
[An Unusual Cause for a Bilateral Ptosis].
No full textAn Unusual Cause for a Bilateral Ptosis Abstract. Immune-checkpoint-inhibitors are increasingly used in various malignancies. Autoimmune side effects such as colitis, hepatitis or skin reactions are well known, on the other hand neurological autoimmune complications such as myasthenic syndromes, myopathies or overlap syndromes with potentially life-threatening complications are less common and not well understood. A precise diagnosis has far reaching therapeutic consequences. Here we present the case of a patient under immune checkpoint inhibitor therapy, in which the diagnosis, due to the presence of overlap symptoms, is shown to be challenging. However, it was crucial to find the correct diagnosis in order to choose the proper therapy
Susac's syndrome: Leptomeningeal enhancement on 3D FLAIR MRI
No full textBACKGROUND
Contrast-enhanced (ce) fluid-attenuated inversion recovery magnetic resonance imaging (FLAIR MRI) has recently been shown to identify leptomeningeal pathology in multiple sclerosis.
OBJECTIVE
To demonstrate leptomeningeal enhancement on three-dimensional (3D) FLAIR in a case of Susac's syndrome.
METHODS
Leptomeningeal enhancement was correlated with clinical activity over 20 months and compared to retinal fluorescein angiography.
RESULTS
The size, number, and location of leptomeningeal enhancement varied over time and generally correlated with symptom severity. The appearance was remarkably similar to that of retinal vasculopathy.
CONCLUSION
Ce 3D FLAIR may aid in diagnosis and understanding of pathophysiology in Susac's syndrome and may serve as a biomarker for disease activity
Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report.
Get PDFIntroduction: Identifying the underlying etiology of nonfamilial adult-onset progressive cerebellar ataxia is often challenging because neurologists must consider almost all nongenetic and genetic causes of ataxia. Case Presentation: A 39-year-old woman was hospitalized for progressive ataxia with pyramidal and cognitive dysfunction after a right arm shaking and coordination problem deteriorated progressively over 1.5 years. The patient's medical history included amenorrhea, cataracts, developmental delays, consanguinity of the parents, motor coordination issues, and diarrhea and vomiting in infancy. An important finding that enabled us to solve the diagnostic conundrum was the elevated CDT levels in the lack of alcohol-related symptoms, which also occur in untreated carbohydrate metabolism disorders, sometimes with ataxia as a leading symptom. The decreased erythrocyte galactose-1-phosphate uridyltransferase (GALT) enzyme activity and the elevated erythrocyte galactose-1-phosphate (Gal-1P) concentration led to the final diagnosis of galactosemia, a rare metabolic disorder. The patient's condition stayed stable with strict adherence to lactose-free and galactose-restricted diets, regular physiotherapy, and speech therapy, despite attempts to control the crippling tremor. Conclusion: This case highlights the importance of considering rare diseases based on unexplained clinical and laboratory findings. Newborn screening does not change the long-term complications of early-treated classical galactosemia. A small percentage of these patients develop ataxia tremor syndrome
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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