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1.
Low‐dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work
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Toshifumi Nomura Reine Moriuchi Masae Takeda Shotaro Suzuki Kazuhiro Kikuchi Takamasa Ito Hiroshi Shimizu Satoko Shimizu 《The Journal of dermatology》2015,42(9):889-892
Punctate palmoplantar keratoderma type 1 (PPKP1) is a rare autosomal dominant disorder of keratinization, clinically characterized by punctate keratotic papules affecting the palmoplantar skin. Loss‐of‐function mutations in AAGAB have recently been reported as a cause of PPKP1. Despite the discovery of the genetic cause of PPKP1, pathogenesis‐based therapies are still unavailable. Moreover, little is known about the effectiveness of treatments for PPKP1. In this study, we analyzed a Japanese woman with PPKP1 and identified a novel frame‐shift mutation c.195_198del4 (p.Lys66Phefs*43) in AAGAB. Moreover, low‐dose etretinate was effective in improving the PPKP1 lesions in our patient. Our published work review identified only eight cases of PPKP1 with successful response to topical or systemic treatments. Notably, six of the cases were successfully treated with systemic retinoids. Thus, this study clearly provides further evidence that PPKP1 is caused by AAGAB mutations and that systemic retinoids are the most promising current treatment for PPKP1. 相似文献
2.
Murielle Rémy Reine Bareille Vincent Rerat Chantal Bourget Jacqueline Marchand-Brynaert Laurence Bordenave 《Journal of biomaterials science. Polymer edition》2013,24(3):269-286
The present work aimed to treat a polyethylene terephthalate (PET) surface to make the biomaterial more ‘attractive’ in terms of attachment and shear stress response to endothelial cells with a view to possible applications in vascular grafting. A surface wet-chemistry protocol was applied to graft track-etched PET membranes with RGD peptidomimetics based on the tyrosine template and active at the nano-level vs. isolated human αvβ3 receptor, which was monitored by X-ray photoelectron spectroscopy, contact angle measurement and atomic force microscopy for characterization. A primary culture of human saphenous vein endothelial cells was used before and after sterilization of the membranes (heat treatment or γ-ray irradiation) to test the benefit of grafting. The optimal surface concentrations of grafted molecules were around 50?pmol/cm². Compared to GRGDS, the peptidomimetics promoted cell attachment with similar or slightly better performances. Endothelialized grafted supports were further exposed to 2?h of shear stress mimicking arterial conditions. Cells were lost on non-grafted PET whereas cells on grafted polymers sterilized by γ-ray irradiation withstood forces with no significant difference in focal contacts. At the mRNA level, cells on functionalized PET were able to respond to shear stress with NFkB upregulation. Thus, grafting of peptidomimetics as ligands of the αvβ3 integrin could be a relevant strategy to improve the adhesion of human endothelial cells and to obtain an efficient endothelialized PET for the surgery of small-diameter vascular prostheses. 相似文献
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Since psychiatric institutions began discharging mentally ill patients into the community, families of patients suffering from schizophrenia were more and more involved in the therapeutic process. During the last decade psychoeducational programs were proposed to families, in order to help them having a better knowledge about the disease, more efficient coping strategies or less expressed emotional level. The adverse consequences of having at home a patient suffering from schizophrenia have been studied by a number of authors, and some of them published standardized questionnaires for evaluating “caregiver burden”. Very few of these questionnaires were elaborated from the caregiver’s point of view, only five of them have well documented psychometric properties and none of them has shown a good sensitivity to change. In this work we present an overview of the literature about caregiver burden questionnaires. Among the 30 questionnaires found in the literature, 16 only have been validated in caregivers of patients suffering from schizophrenia. The validation work is often partial: generally an evaluation of internal consistency. Only eight instruments have been validated with a factorial analysis, and in three of them a study of external validity study has been conducted. Sensitivity to change is described for none of the published questionnaires. These questionnaires may contain three great domains: a caregiver’s evaluation patient’s behavior or social functioning when considered as a burden, the consequences of care giving on caregiver’s life, the subjective perception of care giving by the caregiver. Some instruments evaluate only one domain, others two or three of them. The best validated instruments are the Experience of Caregiving Inventory (Szmuckler et al.), the Involvement Evaluation Questionnaire (Schene et al.), the Questionnaire of Family Attitude and Burden (Morosini et al.). The Social Behavior Assessment Scale (Platt et al.) is the most detailed and complex instrument, and many questionnaires derived from it. No international consensus has been found about the dimensions of such an instrument, the evidence about the usefulness of these instruments for evaluating psychoeducational or therapeutic programs is weak, the lack of information about sensitivity to change is a major problem. In addition to the analysis of the literature, we performed 33 interviews of relatives of French patients suffering from schizophrenia. The results of the qualitative analysis of the verbatim are presented in detail: a global evaluation, some items about patient’s behaviors mentioned as burdensome, items about relationships with patients, family and social relations, daily family routine, physical and mental health, satisfaction with psychiatric care, prospects and philosophy of life. As in the ECI and and the QFAB, some positive dimensions are found together with negative ones. A computer text data analysis has been further performed. The results show four great domains: (1) family routine and daily activities, (2) family and social relations, relationships with the patients, (3) satisfaction with psychiatric care, relationships with the patient, (4) a miscellaneous about the future for the patient as well as the caregiver, hope, fears… Items about mental health and psychological consequences of care giving are found in all dimensions. The comparison of experimental results and data from the literature shows the interest of a quality of life approach in caregivers. We further propose the development of a French language self-administered questionnaire for caregivers of patients suffering from schizophrenia. 相似文献
5.
An 81-year-old woman presented with a tumour on the right hemithorax due to transthoracic progression of an intrathoracic reactivated tuberculosis infection. 相似文献
6.
Charrel RN Zaki AM Fakeeh M Yousef AI de Chesse R Attoui H de Lamballerie X 《Emerging infectious diseases》2005,11(5):683-688
Alkhurma hemorrhagic fever virus (genus Flavivirus, AHFV) was recently identified as the agent of a viral hemorrhagic fever in Saudi Arabia and characterized serologically and genetically as a variant genotype of Kyasanur Forest disease virus (KFDV). Since viral diagnosis and vaccine development may be hindered by genetic diversity, this study was intended to address AHFV genetic heterogeneity. Eleven strains isolated from hospitalized patients from 1994 to 1999 in Saudi Arabia were sequenced in the envelope, NS3, and NS5 genes. Homologous sequences were compared and used to look for patterns reflecting specific evolution associated with spatiality, temporality, infection pathway, and disease prognosis. Genetic analyses showed low diversity, which suggests a slow microevolution. Evaluation of divergence times showed that AHFV and KFDV ancestral lineage diverged 66-177 years ago, and the diversity observed within the studied AHFV strains reflected a 4- to 72-year period of evolution. 相似文献
7.
M F Harmand L Bordenave R Bareille A Naji R Jeandot F Rouais D Ducassou 《Journal of biomaterials science. Polymer edition》1991,2(1):67-79
The cytocompatibility of a polyepoxy resin (Elf Aquitaine) has been studied using both cell lines and human differentiated cell cultures. The human models were gingival fibroblasts and bone osteoblasts, while the cell lines were Hela cells and 3T3 Balb/c cells. Basal cytocompatibility was assessed by estimation of the cell proliferation, total cell protein content, cell membrane sub-lysis, and cell attachment and spreading. Specific cytocompatibility concerning human osteoblasts, from both alveolar and trabecular bone, was determined by measuring the intracellular alkaline phosphatase activity. Resin colonization by the cells was studied by both TEM and SEM. The behaviour of the two cell lines reveals a significant level of discrepancy, whereas the behaviour of human cells, whatever the model, is comparable; however, osteoblasts look more sensitive. Moreover, the results show that this epoxy resin exhibits a moderate cytocompatibility which could be the result of the cytotoxicity of early released products, associated with the considerable surface roughness. 相似文献
8.
Celine Chollet Christel Chanseau Murielle Remy Alain Guignandon Reine Bareille Christine Labrugère Laurence Bordenave Marie-C. Durrieu 《Biomaterials》2009,30(5):711-720
Hybrid materials combining polyethylene terephthalate and different types of cells (endothelial and osteoblastic cells) have been developed thanks to the covalent grafting of different densities of RGD containing peptides onto the polymer surface. Biomimetic modifications were performed by means of a three-step reaction procedure: creation of COOH functions, coupling agent grafting and the immobilization of the RGDC peptides. High resolution μ-imager was used to evaluate RGD densities (varying between 0.6 and 2.4 pmol/mm2) and has exhibited the stability of the surface grafted peptides when treated in harsh conditions. The efficiency of this route for biomimetic modification of a PET surface was demonstrated by measuring the adhesion of MC3T3 and HSVEC cells and by focal adhesion observation. Results obtained prove that a minimal RGDC density of 1 pmol/mm2 is required to improve MC3T3 and HSVEC cells responses. Indeed, cells seeded onto a RGDC-modified PET with a density higher than 1 pmol/mm2 were able to establish focal adhesion as visualized by fluorescence microscope compared to cells immobilized onto unmodified PET and RGDC-modified PET with densities lower than 1 pmol/mm2. Moreover, the number of focal contacts was enhanced by the increase of RGDC peptide densities grafted onto the material surface. With this study we proved that the density of peptides immobilized on the surface is a very important parameter influencing osteoblast or endothelial cell adhesion and focal contact formation. 相似文献
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