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Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome 下载免费PDF全文
Seungbok Lee Sae Mi Park Hyun Ji Kim Jin‐Wou Kim Dong Soo Yu Young Bok Lee 《The Journal of dermatology》2015,42(12):1149-1152
Clinical genomic diagnosis is unfamiliar to many dermatologists. Limited knowledge of bioinformatics has limited the use of the next generation sequencing method in dermatological clinics. We evaluated the usefulness of whole genome sequencing as a diagnostic approach to inherited dermatological disease. Here, we present our experience with two female siblings with atypical familial generalized lipodystrophy with diabetes mellitus and dyslipidemia. Whole genome sequencing was performed to diagnose the inherited disease. We compared control genomic databases using the Exome Aggregation Consortium, and filtered false‐positive calls with the segmental duplication, non‐flagged single nucleotide variants and COSMIC mutation databases, and applied the prediction tools of SIFT and PolyPhen2. The two siblings who presented with generalized lipodystrophy were diagnosed with an atypical progeroid syndrome with a p.D136H mutation in the LMNA gene (NM_005572). We diagnosed a familial atypical progeroid syndrome using whole genome sequencing. In this paper, we present our experience with whole genome sequencing and demonstrate that it can provide useful information for clinical genomic diagnosis of inherited diseases with atypical clinical features, such as atypical progeroid syndrome. 相似文献
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Hae-Eul Lee Sue-Jeong Kim Myung Im Chang-Deok Kim Young-Joon Seo Jeung-Hoon Lee Young Lee 《ANNALS OF DERMATOLOGY》2015,27(1):87-89
Lipedematous alopecia is a rare condition of unknown etiology characterized by a thick boggy scalp with varying degrees of hair loss. It is usually seen in adult African-American females, and a case in a 9-year-old was the youngest patient reported thus far. We report on the appearance of this condition in two children, a 6-year-old child and a 10-year-old child. Each presented with congenital patchy hair loss on the occipital area and the left temple. A boggy hairless scalp with soft swelling was detected in both patients. Histological examination showed increased thickness of the subcutaneous fat tissue with a decrease in hair follicles. These features were consistent with a diagnosis of lipedematous alopecia. We report two cases of congenital lipedematous alopecia, which has not been reported previously. Although congenital, these distinct clinical features should be kept in mind in the diagnosis of alopecic hair loss. 相似文献
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Handling and reporting of orchidectomy specimens with testicular cancer: areas of consensus and variation among 25 experts and 225 European pathologists 下载免费PDF全文
Daniel M Berney Ferran Algaba Mahul Amin Brett Delahunt Eva Compérat Jonathan I Epstein Peter Humphrey Mohammed Idrees Antonio Lopez‐Beltran Cristina Magi‐Galluzzi Gregor Mikuz Rodolfo Montironi Esther Oliva John Srigley Victor E Reuter Kiril Trpkov Thomas M Ulbright Murali Varma Clare Verrill Robert H Young Ming Zhou Lars Egevad 《Histopathology》2015,67(3):313-324
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Yu Young Lee Eun-Jung Lee Jin-Sun Park Se-Eun Jang Dong-Hyun Kim Hee-Sun Kim 《Journal of neuroimmune pharmacology》2016,11(2):294-305
Tangeretin, a flavonoid from citrus fruit peels, has been proven to play an important role in anti-inflammatory responses and neuroprotective effects in several disease models, but further study is necessary for elucidating the detailed mechanisms of these effects. In this study, we examined the anti-inflammatory effect of tangeretin in lipopolysaccharide (LPS)-stimulated microglia. We first observed that tangeretin inhibited LPS-induced production of nitric oxide, tumor necrosis factor alpha, interleukin (IL)-6, and IL-1β, as well as LPS-induced mRNA expression of inducible nitric oxide synthases and cytokines. Additionally, we found that the activities, mRNA levels, and protein levels of matrix metalloproteinase (MMP)-3 and MMP-8 were inhibited, while the expression of tissue inhibitor of metalloproteinase-2 was enhanced by tangeretin in LPS-stimulated microglia. Further mechanistic study showed that tangeretin suppressed LPS-induced phosphorylation of mitogen-activated protein kinases and Akt. Also, tangeretin inhibited nuclear factor-κB by upregulating sirtuin 1 and 5′-adenosine monophosphate-activated protein kinase. We further demonstrated the antioxidant effect of tangeretin by showing that tangeretin inhibited reactive oxygen species production and p47phox phosphorylation, while enhancing the expression of heme oxygenase-1 and the DNA binding activity of nuclear factor-erythroid 2-related factor 2 to the antioxidant response element in LPS-stimulated microglia. Taken together, the results of the present study demonstrate that tangeretin possesses a potent anti-inflammatory and antioxidant effect in microglia. 相似文献