36 research outputs found

    Primary skin fibroblasts as a model of Parkinson's disease

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    Parkinson's disease is the second most frequent neurodegenerative disorder. While most cases occur sporadic mutations in a growing number of genes including Parkin (PARK2) and PINK1 (PARK6) have been associated with the disease. Different animal models and cell models like patient skin fibroblasts and recombinant cell lines can be used as model systems for Parkinson's disease. Skin fibroblasts present a system with defined mutations and the cumulative cellular damage of the patients. PINK1 and Parkin genes show relevant expression levels in human fibroblasts and since both genes participate in stress response pathways, we believe fibroblasts advantageous in order to assess, e.g. the effect of stressors. Furthermore, since a bioenergetic deficit underlies early stage Parkinson's disease, while atrophy underlies later stages, the use of primary cells seems preferable over the use of tumor cell lines. The new option to use fibroblast-derived induced pluripotent stem cells redifferentiated into dopaminergic neurons is an additional benefit. However, the use of fibroblast has also some drawbacks. We have investigated PARK6 fibroblasts and they mirror closely the respiratory alterations, the expression profiles, the mitochondrial dynamics pathology and the vulnerability to proteasomal stress that has been documented in other model systems. Fibroblasts from patients with PARK2, PARK6, idiopathic Parkinson's disease, Alzheimer's disease, and spinocerebellar ataxia type 2 demonstrated a distinct and unique mRNA expression pattern of key genes in neurodegeneration. Thus, primary skin fibroblasts are a useful Parkinson's disease model, able to serve as a complement to animal mutants, transformed cell lines and patient tissues

    Audiotactile interactions in temporal perception

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    Tibiotalare Arthrodese bei angeborener Fibulaaplasie

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    Das Problem: 10-jähriger Patient mit angeborenen Fibulaaplasien beidseits. Auf der linken Seite extreme Valgusfehlstellung des dreistrahligen Fußes im oberen Sprunggelenk mit schmerzhaften Funktionsstörungen beim Stehen und Gehen, die mit orthopädietechnischen Maßnahmen nicht mehr befriedigend beseitigt werden konnten und zu verschiedenen therapeutischen Überlegungen, wie Amputation des Fußes, supramalleoläre Umstellungsosteotomie und tibiotalare Arthrodese, Anlass gaben. Die Lösung: Tibiotalare korrigierende Arthrodese mit einem sog. Minifixateur unter Erhaltung der distalen Epiphysenscheibe der Tibia. Operationstechnik: Erste Inzision auf der Medialseite zur Darstellung der Beugesehnen und des Gefäß-Nerven-Bündels unter Schonung des Nervus suralis und der Vena saphena parva. Freilegung des Innenknöchels nach Durchtrennung seiner Band- und Kapselverbindungen sowie Lokalisation des oberen Sprunggelenkspalts. Längsschnitt auf der Lateralseite des oberen Sprunggelenks. Z-förmige Verlängerung der einzig angelegten Peronealsehne. Eröffnung des oberen Sprunggelenks auf der Lateral- und Ventralseite. Resektion der Gelenkflächen des Talus und der distalen Tibia entsprechend einer Operationsskizze, nach der eine achsengerechte Unterstellung des Rückfußes unter die Tibialängsachse in Rechtwinkelstellung erreicht wird. Einbringen eines Kirschner-Drahts von der Fußsohle in die Tibia zur temporären Fixation der erreichten Korrektur. Anlegen des sog. Minifixateurs: Ein gewindetragender Kirschner- Draht wird durch die Synostose, ein zweiter durch die Epiphyse und ein dritter durch das proximale Tibiadrittel gebohrt. Nach Montage des Fixateurrahmens Kompression der Resektionsflächen und Distraktion zwischen dem proximalen und mittleren Kirschner-Draht. Ergebnis: Im Alter von 16 Jahren trägt der Patient einen Innenschuh in normalen Konfektionsschuhen; er ist schmerzfrei und nimmt an allen Aktivitäten des Alltags teil. Das Längenwachstum der Tibia ist nicht beeinträchtigt worde

    Ankle Arthrodesis for Congenital Absence of the Fibula

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    Cement Spacer Formed in a 3D-Printed Mold for Endoprosthetic Reconstruction of an Infected Sarcomatous Radius: A Case Report

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    CASE The ulcerated recurrent clear cell sarcoma of the forearm with bony invasion of the radius needed an uncontaminated resection and control of infection. A mold was printed based on CT-reconstructed 3D models of the patient's anatomy to create an antibiotic-loaded cement spacer as endoprosthetic replacement used in combination with soft-tissue reconstruction and systemic antibiotics. CONCLUSION This then undescribed novel technique allowed for fast local recovery of the patient's hand function and return to work. In selected cases, such an anatomically formed spacer may be preferred for faster functional recovery and longer intervals before definitive reconstruction is possible

    Osteofibrous Dysplasia with Rhabdoid Elements in a 38-Year-Old Man with Spontaneous Regression Over Five Years: A Case Report

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    CASE: A 38-year-old man presented with multifocal, partially confluent osteolytic lesions in the proximal dia-meta-epiphyseal region of the proximal aspect of the left tibia, which had been found incidentally when a radiograph was made after a rotational knee injury. When the results of a percutaneous core needle biopsy proved inconclusive, an open biopsy was performed. Osteofibrous dysplasia (OFD) with scattered groups of plump cells with a rhabdoid phenotype, shown to express both vimentin and pan-cytokeratin, was found. Because the lesion was an incidental finding, we decided to proceed with observation. Three months after the open biopsy, imaging showed marked regression of the lesion; there was nearly complete normalization 5 years later. CONCLUSION: To our knowledge, there has been only 1 prior reported case with these pathologic features, and there have been no reports of complete spontaneous regression in an adult patient with OFD. Treatment recommendations for OFD and for OFD-like adamantinoma range from observation to aggressive resection
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