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81.
Shahar Taiber Liat Samuelov Janan Mohamad Eran Cohen Barak Ofer Sarig Stavit Allon Shalev Gilles Lestringant Eli Sprecher 《Experimental dermatology》2018,27(7):787-790
Severe skin dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a rare life‐threatening inherited condition caused by bi‐allelic mutations in DSG1 encoding desmoglein 1. The disease was initially reported to manifest with severe erythroderma, failure to thrive, atopic manifestations, recurrent infections, hypotrichosis and palmoplantar keratoderma. We present 3 new cases of SAM syndrome in 2 families and review the cases published so far. Whole exome and direct sequencing were used to identify SAM syndrome‐causing mutations. Consistent with previous data, SAM syndrome was found in all 3 patients to result from homozygous mutations in DSG1 predicted to result in premature termination of translation. In contrast, as compared with patients previously reported, the present cases were found to display a wide range of clinical presentations of variable degrees of severity. The present data emphasize the fact that SAM syndrome is characterized by extensive phenotypic heterogeneity, suggesting the existence of potent modifier traits. 相似文献
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The origin of IgG production and homogeneous IgG components after allogeneic bone marrow transplantation 总被引:1,自引:1,他引:1
van Tol MJ; Gerritsen EJ; de Lange GG; van Leeuwen AM; Jol-van der Zijde CM; Oudeman-Gruber NJ; de Vries E; Radl J; Vossen JM 《Blood》1996,87(2):818-826
Pediatric recipients (n = 25) of an allogeneic bone marrow (BM) graft were selected on the basis of informative IgG allotype (Gm) differences between the BM donor and the recipient. To investigate the kinetics of the appearance of IgG of donor origin and the disappearance of IgG of recipient origin, G1m and G2m allotype levels were quantified in sera obtained at regular intervals between 3 months and 5 years after BM transplantation (BMT). For this quantification, a dot immunobinding assay (DIBA) has been developed. In 19 of 22 informative recipients, the Gm allotype distribution had reached the range of values expected on the basis of the Gm phenotype of the donor within 6 months after BMT. Remarkably, IgG of recipient origin persisted in 15 of 18 informative recipients until last follow up, ie, for several years after BMT. In addition to the origin of total IgG production, the origin of homogeneous IgG components (H-IgG) appearing after BMT was investigated. H-IgG of donor origin could be detected as early as 3 weeks after BMT, but also H-IgG of recipient origin were present in 8 of 13 informative recipients for a period of up to 1 year after BMT. We conclude that host-type IgG-producing cells were not eradicated by the (myeloablative) conditioning regimen and persisted in a high number of graft recipients. It is our hypothesis that lack of graft-versus-host disease (GVHD) in the majority of these recipients results in the persistence of IgG-producing cells of host origin. These observations may be relevant for the evaluation of patients who received allogeneic BMT for the treatment of multiple myeloma. 相似文献
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The pituitary-thyroid axis, serum prolactin and growth hormone levels were studied in 29 patients within 9 d of onset of acute ischaemic stroke. When compared to a control group of 80-year-old volunteers (n = 33), stroke patients were found to have elevated free thyroxine indices (P = 0.008), after adjustment for age and sex. Seventeen (81%) of the stroke patients showed a paradoxical rise in growth hormone in response to thyrotropin releasing hormone (TRH). In a multiple regression model, disorientation was associated with a low thyrotropin response to TRH (P = 0.02 and P = 0.04; 20 and 60 min after TRH, respectively). Disorientation was also positively correlated with the prolactin response to TRH (P = 0.045 after 60 min). Growth hormone levels were predicted by extensive motor impairment (P = 0.02). In conclusion, changes in pituitary and thyroid hormones were commonly observed after stroke and were closely associated with cognitive and/or motor impairment. 相似文献
88.
Cytokines play a central role in the regulation of immunity and are often found to be deregulated in autoimmune diseases. Sjögren's syndrome is a chronic autoimmune disease characterized by inflammation and loss of secretory function of the salivary and lachrymal glands. This review highlights the current knowledge of the expression and the function of pro- and anti-inflammatory cytokines both locally and systemically in Sjögren's syndrome patients. In the salivary glands, saliva and serum of these patients, many pro-inflammatory cytokines are upregulated. Concomitantly, most anti-inflammatory cytokines are not detectable or are expressed at low levels. Besides a role in inflammation, cytokines are also thought to be involved in salivary gland dysfunction by directly interfering with the epithelial cells in the glands. Future research on the role of novel cytokines in Sjögren's syndrome in combination with a better understanding of the effect of cytokines on exocrine dysfunction will aide the identification of the best therapeutic targets for Sjögren's syndrome. 相似文献
89.
Exosomes from human saliva as a source of microRNA biomarkers 总被引:1,自引:0,他引:1
A Michael SD Bajracharya PST Yuen H Zhou RA Star GG Illei I Alevizos 《Oral diseases》2010,16(1):34-38
Objective: The aim of this study was to examine the presence of microRNAs (miRNAs) within exosomes isolated from human saliva and to optimize and test methods for successful downstream applications.
Design: Exosomes isolated from fresh and frozen glandular and whole human saliva were used as a source of miRNAs. The presence of miRNAs was validated with TaqMan quantitative PCR and miRNA microarrays.
Results: We successfully isolated exosomes from human saliva from healthy controls and a patient with Sjögren's syndrome. microRNAs extracted from the exosomal fraction were sufficient for quantitative PCR and microarray profiling.
Conclusions: The isolation of miRNAs from easily and non-invasively obtained salivary exosomes with subsequent characterization of the miRNA expression patterns is promising for the development of future biomarkers of the diagnosis and prognosis of various salivary gland pathologies. 相似文献
Design: Exosomes isolated from fresh and frozen glandular and whole human saliva were used as a source of miRNAs. The presence of miRNAs was validated with TaqMan quantitative PCR and miRNA microarrays.
Results: We successfully isolated exosomes from human saliva from healthy controls and a patient with Sjögren's syndrome. microRNAs extracted from the exosomal fraction were sufficient for quantitative PCR and microarray profiling.
Conclusions: The isolation of miRNAs from easily and non-invasively obtained salivary exosomes with subsequent characterization of the miRNA expression patterns is promising for the development of future biomarkers of the diagnosis and prognosis of various salivary gland pathologies. 相似文献
90.
Swati Dixit GG Agarwal JV Singh Surya Kant Neelam Singh 《Indian Journal of Community Medicine》2011,36(3):197-202