Introduction: While ≥ 40 CAG repeat expansions in HTT present a well-established cause of Huntington's disease (HD), an enrichment of HTT repeat expansions was recently reported also in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), including FTD/ALS patients with additional HD neuropathology. This raises the question whether the phenotypic spectrum of HTT expansions can be extended to ALS and FTD, and whether HTT should be considered as a new causative gene of FTD/ALS. If HTT repeat expansions were indeed systematically related to FTD/ALS, one would expect an increased frequency of HTT carriers in FTD/ALS, who can clinically/neuropathologically not be explained better than by the presence of the HTT repeat expansions.
View Article and Find Full Text PDFThe nanoindentation technique is already widely applied in the mechanical characterization of the microstructure of thin films with respect to different materials. Generally, by means of nanoindentation, the hardness and the elastic modulus of materials can be determined with high precision. The focus of these analyses is usually on the materials from the metal, ceramic, and plastics processing industry.
View Article and Find Full Text PDFNanoemulsions aimed at dermal drug delivery are usually stabilised by natural lecithins. However, lecithin has a high tendency towards self-aggregation and is prone to chemical degradation. Therefore, the aim of this study was to develop nanoemulsions with improved structure and long-term stability by employing a natural sucrose ester mixture as sole surfactant.
View Article and Find Full Text PDFBackground: Maturation of enterocytes along the small intestinal crypt-villus axis is associated with significant changes in gene expression profiles. fls485 coding a putative chaperone protein has been recently suggested as a gene involved in this process. The aim of the present study was to analyze fls485 expression in human small intestinal mucosa.
View Article and Find Full Text PDFAdult human mesenchymal stem cells from bone marrow (BM-MSC) represent a promising source for skeletal regeneration. Perinatal MSC from Wharton's Jelly of the umbilical cord (UC-MSC) are expected to possess enhanced differentiation capacities due to partial expression of pluripotency markers. For bone tissue engineering, it is important to analyse in vitro behaviour of stem cell/biomaterial hybrids concerning in vivo integration into injured tissue via migration, matrix remodelling and differentiation.
View Article and Find Full Text PDFThe human epidermis is characterized by a constant renewal of keratinocytes embedded in a matrix enriched with lipids. Numerous proteins involved in lipid metabolism are found in human epidermis, especially in keratinocytes. Long-chain acyl-CoA derivatives, which are catalyzed by human ACSL5, are important metabolites in several biochemical pathways, including ceramide de novo synthesis.
View Article and Find Full Text PDFPhotodynamic therapy (PDT) using 5-aminolevulinic acid (ALA)-induced protoporphyrin IX (PPIX) is clinically established approach for a number of defined applications. However, in order to optimize the therapeutic benefits of PDT, the specific mode of cell destruction should be better defined. Apoptosis is favored over necrosis for clinical practice as the latter causes more side-effects.
View Article and Find Full Text PDFAim: Aim of this study, carried out in a single third level gynaecological centre, was a detailed analysis of all cases with foetal anomalies not detected prior to 24th gestational week. Based on our results, we wanted to work out recommendations towards improving quality in prenatal ultrasound in Switzerland.
Methods: Retrospective survey (by means of our clinical database and a questionnaire) including all foetuses and neonates with morphological or functional anomalies which had been scanned in the Prenatal Ultrasound Unit of the University Hospital of Zurich in the year 2001.
Four infants acquired meningitis within ten days in the same maternity unit. They were not severely ill. Fever was neither high nor long-lasting, and sedimentation rate, leukocyte count and C-reactive protein did not suggest bacterial infection, In contrast, there was a marked pleocytosis in the cerebrospinal fluid in three children with leukocyte counts between 2660 and 5000 cells, predominantly granulocytes.
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