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Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort
Martin Koenighofer,Thomas Parzefall,Alexandra Frohne,Matthew Allen,Ursula Unterberger,Franco Laccone,Christian Schoefer,Klemens Frei,Trevor Lucas 대한이비인후과학회 2019 Clinical and Experimental Otorhinolaryngology Vol.12 No.4
Objectives. Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disorder characterized by pathogenic blood vessel development and maintenance. HHT type 1 (HHT1) and type 2 (HHT2) are caused by variants in endoglin (ENG) and activin receptor-like kinase-1 (ACVRL1), respectively. The aim of this study was to identify the spectrum of pathogenic variants in ENG and ACVRL1 in Austrian HHT families. Methods. In this prospective study, eight Austrian HHT families were screened for variants in ENG and ACVRL1 by polymerase chain reaction amplification and sequencing of DNA isolated from peripheral blood. Results. Heterozygous variants were identified in all families under study. HHT1 was caused by a novel c.816+1G>A splice donor variant, a novel c.1479C>A nonsense (p.Cys493X) variant and a published c.1306C>T nonsense (p.Gln436X) variant in ENG. Variants found in ACVRL1 were novel c.200G>C (p.Arg67Pro) and known c.772G>A (p.Gly258Ser) missense variants in highly conserved residues, a known heterozygous c.100dupT frameshift (p.Cys34Leufs*4) and the known c.1204G>A missense (p.Gly402Ser) and c.1435C>T nonsense (p.Arg479X) variants as causes of HHT2. Conclusion. Novel and published variants in ENG (37.5%) and ACVRL1 (62.5%) were exclusively identified as the cause of HHT in an Austrian patient cohort. Identification of novel causative genetics variants should facilitate the development of tailored therapeutical applications in the future treatment of autosomal dominant HHT.
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Cognitive Impairment in Grandparents: A Systematic Review
Alexandra Rafael,Lí,dia Sousa,Só,nia Martins,Lia Fernandes 대한신경정신의학회 2021 PSYCHIATRY INVESTIGATION Vol.18 No.7
Objective To evaluate the relationship between grandparenting and the cognitive impairment in older persons. Methods The protocol was submitted to the International Prospective Register of Systematic Reviews (PROSPERO), registration number: CRD42018105849. Authors conducted a systematic review, following “Preferred Reporting Items for Systematic Reviews and Meta-Analyses” (PRISMA) recommendations. Electronic databases were accessed through august 2018: PubMed, ISI Web of Knowledge, Scopus, and EBSCOhost. Selection of records and quality appraisal were made by two reviewers, independently. Results A total of 178 records was found, after removing duplicates. From those, 17 were considered eligible for integral text reading and eight were included: five original studies, one classic review and two editorials. From the five original studies included, four suggested a positive effect on cognition resulting from grandparenting and one suggested that there was no evidence for a causal effect. Though the boundary was not consensual, some studies suggested that a higher frequency of grandparenting has a negative impact on cognition. Conclusion Overall, studies suggested a trend towards a positive effect of grandchild care on grandparents’ cognition. However, there was a significant heterogeneity between methodologies and a significant risk of bias which can hamper conclusions, indicating the need for further and more robust research. Psychiatry Investig 2021;18(7):593-602
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Development of HPV16 mouse and dog models for more accurate prediction of human vaccine efficacy
Emmanuelle Totain,Loïc Lindner,Nicolas Martin,Yolande Misseri,Alexandra Iché,Marie-Christine Birling,Tania Sorg,Yann Herault,Alain Bousquet-Melou,Pascale Bouillé,Christine Duthoit,Guillaume Pavlovic,S 한국실험동물학회 2023 Laboratory Animal Research Vol.39 No.2
Background: Animal models are essential to understand the physiopathology of human diseases but also to evaluate new therapies. However, for several diseases there is no appropriate animal model, which complicates the development of effective therapies. HPV infections, responsible for carcinoma cancers, are among these. So far, the lack of relevant animal models has hampered the development of therapeutic vaccines. In this study, we used a candidate therapeutic vaccine named C216, similar to the ProCervix candidate therapeutic vaccine, to validate new mouse and dog HPV preclinical models. ProCervix has shown promising results with classical subcutaneous murine TC-1 cell tumor isografts but has failed in a phase II study. Results: We first generated E7/HPV16 syngeneic transgenic mice in which the expression of the E7 antigen could be switched on through the use of Cre–lox recombination. Non-integrative LentiFlash® viral particles were used to locally deliver Cre mRNA, resulting in E7/HPV16 expression and GFP reporter fluorescence. The expression of E7/HPV16 was monitored by in vivo fluorescence using Cellvizio imaging and by local mRNA expression quantification. In the experimental conditions used, we observed no differences in E7 expression between C216 vaccinated and control groups. To mimic the MHC diversity of humans, E7/HPV16 transgenes were locally delivered by injection of lentiviral particles in the muscle of dogs. Vaccination with C216, tested with two different adjuvants, induced a strong immune response in dogs. However, we detected no relationship between the level of cellular response against E7/HPV16 and the elimination of E7-expressing cells, either by fluorescence or by RT-ddPCR analysis. Conclusions: In this study, we have developed two animal models, with a genetic design that is easily transposable to different antigens, to validate the efficacy of candidate vaccines. Our results indicate that, despite being immunogenic, the C216 candidate vaccine did not induce a sufficiently strong immune response to eliminate infected cells. Our results are in line with the failure of the ProCervix vaccine that was observed at the end of the phase II clinical trial, reinforcing the relevance of appropriate animal models.
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Guido Schröder,Benjamin Jabke,Marko Schulze,Andreas Wree,Heiner Martin,Olga Sahmel,Alexandra Doerell,Claus Maximilian Kullen,Reimer Andresen,Hans-Christof Schober 대한해부학회 2021 Anatomy & Cell Biology Vol.54 No.1
The vertebral trabecular bone has a complex three-dimensional microstructure with an inhomogeneous morphology. Correct identification and assessment of the weakest segments of the cancellous bone may lead to better prediction of fracture risk. The aim of this study was to compare cancellous bone from 240 vertebrae of the cervical, thoracic and lumbar spine of ten body donors with osteoporosis in regard to bone volume fraction (BVF), trabecular thickness, separation, trabecular number and degree of anisotropy, to ascertain why cervical vertebrae rarely fracture, even with severe osteoporosis. Samples were obtained from all vertebrae with a Jamshidi needle (8 Gauge). The investigations were performed with a micro-computed tomography (micro-CT) device (SKYSCAN 1172, RJL Micro & Analytic GmbH, Karlsdorf-Neuthard, Germany). Existing vertebral fractures and the bone mineral density of the lumbar spine were assessed with quantitative CT. Regarding the micro-CT parameters, statistically significant differences were observed between the various sections of the spine. We found a higher BVF, trabecular number and trabecular thickness, as well as a lower trabecular separation of the cervical vertebrae compared to other vertebrae. In addition, the degree of anisotropy in the cervical spine is lower than in the other spinal column sections. These results are age and sex dependent. Thus, the cervical spine has special structural features, whose causes must be determined in further investigations.
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Lee, Doh-Kwon,Fischer, Claus C.,Valov, Ilia,Reinacher, Jochen,Stork, Alexandra,Lerch, Martin,Janek, Juergen The Royal Society of Chemistry 2011 Physical chemistry chemical physics Vol.13 No.3
<P>The mobility and electrochemical activity of nitrogen inside and/or at the surface of ionic compounds is of fundamental, as well as of possibly practical, relevance. In order to better understand the role of nitrogen anions in solid electrolytes, we measured the transference number of nitrogen in yttria-stabilized zirconia (YSZ) by a concentration cell technique as a function of oxygen activity at different temperatures in the range of 1023 ≤<I>T</I>/<I>K</I>≤ 1123. YSZ doped with 1.9 wt% of N (YSZ:N) turned out to have an appreciable nitrogen transference number, which increased from 0 to 0.1 with decreasing oxygen activity in the range of −20 < log<I>a</I><SUB>O<SUB>2</SUB></SUB> < −14. The stability of N in YSZ:N, however, has yet to be elucidated under oxidizing conditions.</P> <P>Graphic Abstract</P><P>Solid state electrochemistry with (di-)nitrogen? EMF measurements with a zirconium oxide nitride (N-doped YSZ) solid electrolyte under reducing conditions reveal a significant transference number of nitrogen anions. <IMG SRC='http://pubs.rsc.org/services/images/RSCpubs.ePlatform.Service.FreeContent.ImageService.svc/ImageService/image/GA?id=c003991h'> </P>
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Cystic fibrosis gene therapy, novel strategies for improving long-term therapeutic efficacy
( Juliette Delhove ),( Patricia Cmielewski ),( Nigel Farrow ),( Chantelle Carpentieri ),( Alexandra Sarah Ann Mc Carron ),( Nicole Reyne ),( Nathan Rout-pitt ),( Bernadette Boog ),( Martin Donnelley ) 대한결핵 및 호흡기학회 2019 대한결핵 및 호흡기학회 추계학술대회 초록집 Vol.127 No.-
Background: Cystic fibrosis (CF) is a genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR) protein. CF results in airway surface dehydration and the inability to clear mucus, which leads to chronic infections, inflammation, and premature death most commonly due to respiratory failure. Gene therapy can be used to insert a correct copy of the CFTR gene into the genome to restore organ function by fixing the underlying genetic condition independent of CFTR mutation type. Lentiviruses (LV) are a promising gene therapy vehicle as they stably integrate the therapeutic gene into the genome. To achieve permanent genetic correction, we are focusing on developing vectors to improve cell targeting and specificity to overcome the current challenges of CF gene therapy. Methods: LV vectors containing reporter genes (LacZ, Luc-GFP) or epitope-tagged CFTR were developed and tested in vitro. Subsequently, each vector was administered to the nasal epithelia or lungs of CF mice or rats. Transduction efficiency, duration, localisation and CFTR function were assessed using histology, electrophysiological measurements, and in vivo bioluminescence imaging. Results: LV vectors containing reporter genes or CFTR have been shown to successfully transduce the lung and express transgenes long-term. Non-specific alveoli cells and macrophages are transduced in conjunction with a low proportion of therapeutically-relevant basal cells. Importantly, LV vector containing tagged or non-tagged CFTR produced functional correction of the nasal potential difference with tagging of CFTR having no effect on CFTR function. Conclusions: We have shown that our vector has the potential for long-term expression, and can correct CF mutation-induced electrophysiological defects. Using vector-surface engineering strategies, we now aim to overcome the current challenges of basal cell targeting, immune responses, and off-target transduction of non-therapeutic cell types. Combatting these critical obstacles will enable full and rapid progress in gene therapy treatment for this life-limiting disease.
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