305 research outputs found
Autologous stem cell therapy combined with exon skipping
No full textThe selected cells are muscle-derived “AC-133” precursors (Yvan Torrente, Milan). This material is difficult to isolate and to amplify ex vivo without losing its myogenic properties.
The most significant advances are:
- The preparation of AC-133 cells retaining their in vivo myo-regenerating capacity was reproduced for the first time in another lab, thru the utilization of another less expensive culture medium (EGM2 Lonza) (Jenny Morgan, London).
- Quality control: the experimental laboratory processes of isolation and amplification of AC-133 cells derived from dog and human muscle have been optimized. A battery of tests have been standardized to control the quality of the cells at each step of the procedure (Genosafe, Evry).
- Heterogeneity of AC-1133 cells: this important feature has been evidenced, even after starting from one single cell clone. It has an impact on cell viability, cell proliferation, and in vivo myoregenerating capacity. At the present time it is a major hurdle on the way to clinical trials (Yvan Torrente, Milan).
- Therapeutic trials in GRMD dog: 6 animals received arterial infusion of autologous AC-133 cells harnessed with the su7opt exon skipping device vectorized in a lentivirus (108 cells via subclavian route + 108 cells via femoral route). Encouraging results were obtained both at biological and clinical levels. No side effects were observed. The degree of histological and
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functional recovery varied significantly from one dog to the other, suggesting that there are “good” and “bad” responders. Unexpectedly there was no correlation with the degree of dystrophin rescue. Functional improvement was evaluated by the “6 min walk test”, ability to climb stairs, and attested by video recording. It is already possible to say that this strategy combining splicing and cell therapy is able to elicit a sustained muscle regeneration with progressive appearance of dystrophin (7% of dys positive fibers after 6 months). These animals are still alive, allowing one to pursue long term surveys. These results belong to the most important advances obtained in 201
[Lieber A R Meyer].
No full textHandwritten letter from poet Yvan Goll in Paris to author Alfred Richard Meyer in Berlin, with thanks for an evening in Berlin. The letter is signed by Yvan Goll. On the
reverse is the draft of a poem in Meyer's handwriting.Processed for digitizationSent for digitizationReturned from digitizationLinked to online manifestationdigitize
Infección de torrente sanguíneo por catéteres en pacientes con cáncer sometidos a procedimientos quirúrgicos del Instituto Nacional de Enfermedades Neoplásicas 2014-2016
No full textDescribe y examina la prevalencia de infecciones de torrente sanguíneo asociada a dispositivos e identifica los factores de riesgo y la mortalidad atribuible a infección del torrente sanguíneo en pacientes con cáncer sometido a procedimientos quirúrgicos Institución Nacional Enfermedades Neoplásicas 2014-2016. La infección del torrente sanguíneo asociada a catéter es importante, porque es un indicador de calidad de los servicios de salud por lo que urge conocer los riesgos y mortalidad, atribuible a infección del torrente sanguíneo. Por lo que se requiere investigaciones que permitan conocer cuáles son los factores de riesgo, cuánto cuesta una infección hospitalaria y su mortalidad atribuible a catéter, para poder así aplicar y evaluar las medidas de control inmediato
Behavioral Variant of Frontotemporal Dementia and Homicide in a Historical Case
No full textCriminal behavior is a clinical feature of the behavioral variant of frontotemporal dementia (bvFTD), ranging from socially inappropriate behavior and minor offenses (such as shoplifting, driving-related violations, housebreaking, trespassing) to the more extreme acts of sex crimes and violence. To our knowledge, no homicide case involving bvFTD is well illustrated in the scientific literature, and only a few anecdotal annotations are available about bvFTD and homicide. This is surprising considering the inclination of individuals with bvFTD to lack impulse control, to manifest disinhibition, to display diminished emotional awareness and loss of empathy, and to show behavior indicative of disordered moral reasoning. Here, we describe the 19th-century homicide case of Benjamin Reynaud, a man whose clinical characteristics suggest the bvFTD diagnosis. Reynaud's case may represent a rare instance of homicide committed by an individual with bvFTD and provide a basis for some reflections regarding the relationship between homicidal behavior and bvFTD
The involvement of microRNAs in neurodegenerative diseases
No full textNeurodegenerative diseases (NDDs) originate from loss of neurons in the central nervous system and are severely debilitating. They are worldwide spread and their incidence increases with age so that they are supposed to become more common due to extended life expectancy. Since no cure is available they have become a major challenge to neurobiology. The increasing relevance of microRNAs (miRNAs) in biology has prompt the scientific society to investigate on their possible involvement in neurodegeneration with the aim to find new therapeutic targets. Indeed the idea of using miRNAs as therapeutic targets is nowadays not far from realization but important issues need to be addressed before moving towards the clinics. With the present review we aim to resume what have been so far disclose on the involvement of miRNAs in NDDs pathogenesis. Furthermore, their expression levels in peripheral tissues of patients affected by NDDs will be here reported in order to evaluate their application as biomarker of disease. Finally the discrepancy, innovation and effectiveness of data collected will be elucidated and discussed
Pentecostalism and Alternative Paths for Self-Accomplishment in Kenya
No full textAuthor : Daryona. This file is licensed under the Creative Commons Attribution Share Alike Introduction Yvan Droz, Senior Lecturer in Anthropology and Sociology at the Graduate Institute, and Yonatan N. Gez, PhD alumnus of the Institute and a member of the Martin Buber Society of Fellows in the Humanities and Social Sciences at HUJI Jerusalem, are among the authors of a chapter on Pentecostalism and self-accomplishment in Kenya, published in Religion and Human Security in Africa (Routl..
Combining Stem Cells and Exon Skipping Strategy to Treat Muscular Dystrophy
No full textBackground: Muscular dystrophies are characterized by primary wasting of skeletal muscle. Mutations in the dystrophin gene cause hereditary muscular diseases such as Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD), the most severe form. Characterization of the dystrophin gene and evidence that different types of adult stem cells are capable of muscle regeneration has lead to the development of potential gene therapy and stem cell treatments for DMD. Objectives: The main goal is to combine gene modification strategies with cell-mediated therapies. This approach could permit autologous transplantation of cells, minimizing the risk of implant rejection. Results/conclusion: The combination of gene and stem cell approaches seems to be most promising, particularly intra-arterial injections of the patient's own stem cells transduced by antisense oligonucleotide technology. This approach should offer the chance to distribute the autologous corrected stem cells to the whole body musculature providing a clinical benefit for dystrophic patients
CD133+ cells isolated from various sources and their role in future clinical perspective
No full textBackground. CD133 is a member of a novel family of cell surface glycoproteins. Initially, the expression of CD133 antigen was seen only in the hematopoietic derived CD34+ stem cells. At present, CD133 expression is demonstrated in undifferentiated epithelium, different types of tumors and myogenic cells. CD133+ neurosphere cells isolated from brain are able to differentiate into both neurons and glial cells. These data suggested that CD133 could be a specific marker for various stem and progenitor cell populations. Objectives. The main goal would be to describe the role for CD133 as a marker of stem cells able to engraft and differentiate, to form functional non-hematopoietic adult lineages and contribute to disease amelioration via tissue regeneration. Results/conclusion. In conclusion, since the rise of CD133 antigen as a suitable stem cell marker, the possible use of CD133+ stem cells in therapeutic applications has opened a new promising field in the treatment of degenerating diseases. The human circulating cells expressing the CD133 antigen behave as a stem cell population capable of commitment to hematopoietic, endothelial and myogenic lineages. CD133 cell therapy may represent a promising treatment for many diseases
Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26
No full textBackground: The dystrophin gene is the one of the largest described in human beings and mutations associated
to this gene are responsible for Duchenne or Becker muscular dystrophies.
Case Presentation: Here we describe a nucleotide substitution in the acceptor splice site of intron 26 (c.3604-1G >
C) carried by a 6-year-old boy who presented with a history of progressive proximal muscle weakness and elevated
serum creatine kinase levels. RNA analysis showed that the first two nucleotides of the mutated intron 26 (AC) were
not recognized by the splicing machinery and a new splicing site was created within exon 27, generating a
premature stop codon and avoiding protein translation.
Conclusions: The evaluation of the pathogenic effect of the mutation by mRNA analysis will be useful in the optics
of an antisense oligonucleotides (AON)-based therapy
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