Filters








270 Hits in 1.8 sec

In Vivo Analysis of Cone Survival in Mice

Susanne C. Beck, Karin Schaeferhoff, Stylianos Michalakis, M. Dominik Fischer, Gesine Huber, Norman Rieger, Olaf Riess, Bernd Wissinger, Martin Biel, Michael Bonin, Mathias W. Seeliger, Naoyuki Tanimoto
2010 Investigative Ophthalmology and Visual Science  
PURPOSE. To identify individual cone photoreceptors in a transgenic mouse line in vivo based on selective expression of green fluorescent protein (GFP) using cSLO (confocal scanning laser ophthalmoscopy) and to use this approach to monitor cone cell fate in mouse models of retinal degeneration. METHODS. Transgenic mice expressing GFP under the control of a red-green opsin promoter (RG-GFP mice) were analyzed in vivo with respect to GFP expression in cone cells using cSLO and functional
more » ... using electroretinography (ERG). Histology was performed to correlate the pattern of GFP expression with light microscopic data. Longitudinal monitoring of cone survival was evaluated in crossbreds of RG-GFP mice with cpfl1 and Rpe65 Ϫ/Ϫ mutant mice, respectively. RESULTS. The authors found that RG-GFP transgenic mice had a stable GFP expression that did not interfere with retinal function up to at least 3 months of age. Thus, a longitudinal analysis of cone degeneration in individual RG cpfl1 and RG Rpe65 Ϫ/Ϫ cross-bred mice in vivo was successfully performed and demonstrated distinct time frames of cone survival in the particular mouse model. CONCLUSIONS. Monitoring GFP expression in cone photoreceptor cells, such as in the RG-GFP mouse, is a promising in vivo approach for the analysis of cone survival in mice. (Invest Ophthalmol Vis Sci.
doi:10.1167/iovs.09-4003 pmid:19737879 fatcat:abvrxiyyerfsdoyfae5uxm223e

Effects of Enterococcus faecium and Bacillus cereus var. toyoi on the morphology of the intestinal mucous membrane in piglets

Katja Reiter, Susanne Eggebrecht, Barbara Drewes, Michael Riess, Karl Weyrauch
2006 Biologia (Bratislava)  
AbstractEighty piglets aged 14, 28, 35 and 56 days — weaned at day 28 — were subjected to this investigation. Each age-group consisted of five animals which were fed an Enterococcus faecium NCIMB 10415 (Cylactin®) and Bacillus cereus var. toyoi (Toyocerin®) based diet. Five animals served as controls. Tissue samples were collected immediately after sacrifice at 8.30 h a.m. from duodenum, jejunum, ileum, cecum and colon to examine intestinal morphology and histochemistry. The results showed that
more » ... with respect to villus height and crypt depth supplementation of probiotics in piglets feed seemed to influence the morphology and enlargement factor not at all or only to a certain extent. With respect to the number of goblet cells, the difference between probiotic fed animals and control animals was generally extremely low. The shape of the villi of the small intestinal segments greatly varied in all age groups of control and probiotic fed animals. However, this morphological variety does not depend on the mode of feeding.
doi:10.2478/s11756-006-0161-2 fatcat:s5j32bd33reljklsbfubd5cy5q

Coronavirus disease (COVID-19): observations and lessons from primary medical care at a German community hospital

Martin Schiller, Juergen Fisahn, Ute Huebner, Patrick Hofmann, Joerg Walther, Susann Riess, Christiane Grimm, Hansjörg Schwab, Wolfgang Kick
2020 Journal of Community Hospital Internal Medicine Perspectives  
The pandemic outbreak of COVID-19 challenges medical care systems all around the world. We here describe our experiences during the treatment of COVID-19 patients (n = 42) treated from 2 March 2020 to 16 April 2020 at a German district hospital. Forty-two COVID-19 patients were hospitalized and five patients developed a severe disease, requiring intensive care. Overall, 11 out of 42 hospitalized patients died. COVID-19 caused lymphocytopenia, as well as increased d-dimer, c-reactive protein and
more » ... creatine kinase, and lactate dehydrogenase levels. These changes were mostly pronounced in patients that developed a severe disease course. Radiologic findings included ground-glass opacity, bilateral/multilobular involvement, consolidation, and posterior involvement. We compared COVID-19 patients to an average population of 'non-COVID' patients. Interestingly, no laboratory or radiologic finding was specific for COVID-19 when standing alone, as comorbidities of 'non-COVID' patients certainly can mimic similar results. In common praxis, the diagnosis of COVID-19 is based on a positive PCR result. However, a false-negative result causes problems for the workflow of an entire hospital. In our clinic, the consequences of a false assumption of SARS-CoV-2 negativity in four cases had dramatic consequences, as contact persons had to be quarantined. To avoid this, a comprehensive view of lab-results, radiology, clinical symptoms and comorbidities is necessary for the correct diagnosis or exclusion of COVID-19.
doi:10.1080/20009666.2020.1763079 pmid:32850041 pmcid:PMC7425615 fatcat:3qshhm4znvfavn3rqwvmamh2om

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

Nina A Schlipf, Christian Beetz, Rebecca Schüle, Giovanni Stevanin, Anne Kjersti Erichsen, Sylvie Forlani, Cécile Zaros, Kathrin Karle, Stephan Klebe, Sven Klimpe, Alexandra Durr, Susanne Otto (+5 others)
2010 European Journal of Human Genetics  
The most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene (SPG4 locus). However, roughly 60% of patients are negative for SPAST mutations, despite their family history being compatible with AD inheritance. A mutation in the gene for an acetyl-CoA transporter (SLC33A1) has recently been reported in one Chinese family to cause ADHSP-type SPG42. In this study, we screened 220 independent SPAST mutationnegative ADHSP samples for
more » ... mutations in the SLC33A1 gene by high-resolution melting curve analysis. Conspicuous samples were validated by direct sequencing. Moreover, copy number variations affecting SLC33A1 were screened by multiplex ligation-dependent probe amplification assay. We could not identify potentially disease-causing mutations in our patients either by mutation scanning or by gene dosage analysis, as for the latter specific positive controls are not available to date. As our sample represents ADHSP patients for whom SPAST mutations and almost in all cases ATL1 and REEP1 mutations had been excluded, we consider SLC33A1 gene mutations as being very rare in a European ADHSP cohort, if present at all. To date, as SPG42 has still not been identified in a second, unrelated family, systematic genetic testing for SLC33A1 mutations is not recommended.
doi:10.1038/ejhg.2010.68 pmid:20461110 pmcid:PMC2987419 fatcat:vskwfdp3svdfjmmeuzfjk6zure

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history

Christoph Engel, Kerstin Rhiem, Eric Hahnen, Sibylle Loibl, Karsten E. Weber, Sabine Seiler, Silke Zachariae, Jan Hauke, Barbara Wappenschmidt, Anke Waha, Britta Blümcke, Marion Kiechle (+16 others)
2018 BMC Cancer  
There is no international consensus up to which age women with a diagnosis of triple-negative breast cancer (TNBC) and no family history of breast or ovarian cancer should be offered genetic testing for germline BRCA1 and BRCA2 (gBRCA) mutations. Here, we explored the association of age at TNBC diagnosis with the prevalence of pathogenic gBRCA mutations in this patient group. Methods: The study comprised 802 women (median age 40 years, range 19-76) with oestrogen receptor, progesterone
more » ... and human epidermal growth factor receptor type 2 negative breast cancers, who had no relatives with breast or ovarian cancer. All women were tested for pathogenic gBRCA mutations. Logistic regression analysis was used to explore the association between age at TNBC diagnosis and the presence of a pathogenic gBRCA mutation. Results: A total of 127 women with TNBC (15.8%) were gBRCA mutation carriers (BRCA1: n = 118, 14.7%; BRCA2: n = 9, 1. 1%). The mutation prevalence was 32.9% in the age group 20-29 years compared to 6.9% in the age group 60-69 years. Logistic regression analysis revealed a significant increase of mutation frequency with decreasing age at diagnosis (odds ratio 1.87 per 10 year decrease, 95%CI 1.50-2.32, p < 0.001). gBRCA mutation risk was predicted to be > 10% for women diagnosed below approximately 50 years. Conclusions: Based on the general understanding that a heterozygous mutation probability of 10% or greater justifies gBRCA mutation screening, women with TNBC diagnosed before the age of 50 years and no familial history of breast and ovarian cancer should be tested for gBRCA mutations. In Germany, this would concern approximately 880 women with newly diagnosed TNBC per year, of whom approximately 150 are expected to be identified as carriers of a pathogenic gBRCA mutation.
doi:10.1186/s12885-018-4029-y pmid:29514593 pmcid:PMC5842578 fatcat:di57v3yfhrhm3o4gzqur2ranle

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Ruth J Falb, Amelie J Müller, Wolfram Klein, Mona Grimmel, Ute Grasshoff, Stephanie Spranger, Petra Stöbe, Darja Gauck, Alma Kuechler, Nicola Dikow, Eva M C Schwaibold, Christoph Schmidt (+29 others)
2021 Journal of Medical Genetics  
BackgroundFetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals. We aimed to further define the set of genes involved.MethodsWe performed in-depth clinical characterisation and exome sequencing on a cohort of 23 FA index cases sharing arthrogryposis as a common feature.ResultsWe identified likely pathogenic or pathogenic variants in 12 different
more » ... established disease genes explaining the disease phenotype in 13 index cases and report 12 novel variants. In the unsolved families, a search for recessive-type variants affecting the same gene was performed; and in five affected fetuses of two unrelated families, a homozygous loss-of-function variant in the kinesin family member 21A gene (KIF21A) was found.ConclusionOur study underlines the broad locus heterogeneity of FA with well-established and atypical genotype–phenotype associations. We describe KIF21A as a new factor implicated in the pathogenesis of severe neurogenic FA sequence with arthrogryposis of multiple joints, pulmonary hypoplasia and facial dysmorphisms. This hypothesis is further corroborated by a recent report on overlapping phenotypes observed in Kif21a null piglets.
doi:10.1136/jmedgenet-2021-108064 pmid:34740919 fatcat:wmy2247bdjcslojwxlczstudmi

Page 16 of Current World Leaders Vol. 44, Issue 2 [page]

2001 Current World Leaders  
Vice Chancellor: Susanne RIESS-PASSER Agriculture and Forestry: Wilhelm MOLTERER National Defense: Herbert SCHEIBNER Economics: Martin BARTENSTEIN Education, Science, Cultural Affairs, and the Arts: Elisabeth  ... 

Page 17 of Current World Leaders Vol. 45, Issue 2 [page]

2002 Current World Leaders  
Chancellor: Wolfgang SCHUSSEL Vice Chancellor: Susanne RIESS-PASSER Agriculture and Forestry, Environment and Water Management: Wilhelm MOLTERER National Defense: Herbert SCHEIBNER Economics: Martin BARTENSTEIN  ... 

Page 16 of Current World Leaders Vol. 44, Issue 3 [page]

2001 Current World Leaders  
Chancellor: Wolfgang SCHUSSEL Vice Chancellor: Susanne RIESS-PASSER Agriculture and Forestry: Wilhelm MOLTERER National Defense: Herbert SCHEIBNER Economics: Martin BARTENSTEIN Education, Science, Cultural  ... 

Page 17 of Current World Leaders Vol. 45, Issue 3 [page]

2002 Current World Leaders  
Chancellor: Wolfgang SCHUSSEL Vice Chancellor: Susanne RIESS-PASSER Agriculture and Forestry, Environment and Water Management: Wilhelm MOLTERER National Defense: Herbert SCHEIBNER Economics: Martin BARTENSTEIN  ... 

Page 17 of Current World Leaders Vol. 46, Issue 1 [page]

2003 Current World Leaders  
Chancellor: Wolfgang SCHUSSEL Vice Chancellor: Susanne RIESS-PASSER Agriculture and Forestry, Environment and Water Management: Wilhelm MOLTERER National Defense: Herbert SCHEIBNER Economics: Martin BARTENSTEIN  ... 

Page 16 of Current World Leaders Vol. 45, Issue 1 [page]

2002 Current World Leaders  
Chancellor: Wolfgang SCHUSSEL Vice Chancellor: Susanne RIESS-PASSER Agriculture and Forestry: Wilhelm MOLTERER National Defense: Herbert SCHEIBNER Economics: Martin BARTENSTEIN Education, Science, Cultural  ... 

Page 17 of Current World Leaders Vol. 46, Issue 2 [page]

2003 Current World Leaders  
Chancellor: Wolfgang SCHUSSEL Vice Chancellor: Susanne RIESS-PASSER Agriculture and Forestry, Environment and Water Management: Wilhelm MOLTERER National Defense: Herbert SCHEIBNER Economics: Martin BARTENSTEIN  ... 

Page 15 of Current World Leaders Vol. 44, Issue 1 [page]

2001 Current World Leaders  
Chancellor: Wolfgang SCHUSSEL Vice Chancellor: Susanne RIESS-PASSER Agriculture and Forestry: Wilhelm MOLTERER Volume 44, No.  ... 

Page 15 of Current World Leaders Vol. 43, Issue 3 [page]

2000 Current World Leaders  
Chancellor: Wolfgang SCHUSSEL Vice Chancellor: Susanne RIESS-PASSER Agriculture and Forestry: Wilhelm MOLTERER National Defense: Herbert SCHEIBNER Economics: Martin BARTENSTEIN Education, Science, Cultural  ... 
« Previous Showing results 1 — 15 out of 270 results