unmasking

アンマスキング

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1. 下垂体機能低下症の治療 treatment of hypopituitarism
2. 好酸球性肉芽腫性多発血管炎(チャーグ・ストラウス症候群）の疫学、病因、および病理 epidemiology pathogenesis and pathology of eosinophilic granulomatosis with polyangiitis churg strauss
3. ジゴキシン中毒患者におけるジゴキシン特異的抗体（Fab）フラグメントに対する投与レジメン dosing regimen for digoxin specific antibody fab fragments in patients with digoxin toxicity
4. 小児におけるアデノイド切除：術後ケアおよび合併症 adenoidectomy in children postoperative care and complications
5. 酸塩基障害におけるカリウムバランス potassium balance in acid base disorders

English Journal

Epigenetic genome-wide analysis identifies BEX1 as a candidate tumour suppressor gene in paediatric intracranial ependymoma.

Karakoula K1, Jacques TS2, Phipps KP3, Harkness W3, Thompson D3, Harding BN4, Darling JL5, Warr TJ5.Author information 1Brain Tumour Research Centre, School of Applied Sciences, University of Wolverhampton, Wolverhampton WV1 1LY, UK. Electronic address: A.Karakoula@wlv.ac.uk.2Neural Development Unit, Birth Defects Research Centre, UCL Institute of Child Health, University College London, London WC1E 6BT, UK; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.3Department of Neurosurgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.4Division of Neuropathology, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA.5Brain Tumour Research Centre, School of Applied Sciences, University of Wolverhampton, Wolverhampton WV1 1LY, UK.AbstractPromoter hypermethylation and transcriptional silencing is a common epigenetic mechanism of gene inactivation in cancer. To identify targets of epigenetic silencing in paediatric intracranial ependymoma, we used a pharmacological unmasking approach through treatment of 3 ependymoma short-term cell cultures with the demethylating agent 5-Aza-2'-deoxycytidine followed by global expression microarray analysis. We identified 55 candidate epigenetically silenced genes, which are involved in the regulation of apoptosis, Wnt signalling, p53 and cell differentiation. The methylation status of 26 of these genes was further determined by combined bisulfite restriction analysis (COBRA) and genomic sequencing in a cohort of 40 ependymoma samples. The most frequently methylated genes were BEX1 (27/40 cases), BAI2 (20/40), CCND2 (18/40), and CDKN2A (14/40). A high correlation between promoter hypermethylation and decreased gene expression levels was established by real-time quantitative PCR, suggesting the involvement of these genes in ependymoma tumourigenesis. Furthermore, ectopic expression of brain-expressed X-linked 1 (BEX1) in paediatric ependymoma short-term cell cultures significantly suppressed cell proliferation and colony formation. These data suggest that promoter hypermethylation contributes to silencing of target genes in paediatric intracranial ependymoma. Epigenetic inactivation of BEX1 supports its role as a candidate tumour suppressor gene in intracranial ependymoma, and a potential target for novel therapies for ependymoma in children.
Cancer letters.Cancer Lett.2014 Apr 28;346(1):34-44. doi: 10.1016/j.canlet.2013.12.005. Epub 2013 Dec 11.
Promoter hypermethylation and transcriptional silencing is a common epigenetic mechanism of gene inactivation in cancer. To identify targets of epigenetic silencing in paediatric intracranial ependymoma, we used a pharmacological unmasking approach through treatment of 3 ependymoma short-term cell c
PMID 24333734

IRIS-unmasking endophtalmic, lymphadenopathic and neuromeningeal cryptococcosis in a HIV-infected patient starting HAART.

Asensi V1, Martinez-Zapico A, Fuentes N, Fonolla M, Rodriguez M, Carcaba V, Carton JA.Author information 1HOSPITAL CENTRAL DE ASTURIAs,OVIEDO UNIVERSITY MEDICAL SCHOOL, INFECTIOUS DISEASES, OVIEDO, Asturias, Spain ; vasensia@gmail.com.AbstractWe report an unusual case of immune reconstitution inflammatory syndrome (IRIS) unmasking a latent cryptococcal infection in a HIV-infected patient starting HAART. The patient developed endophtalmic, lymphadenopathic, neuromeningeal and probably skin and pulmonary involvement by Cryptococcus neoformans. Cryptococcal bilateral endophtalmitis manifested as choroidal nodules, retinal hemorrhages and necrosis. The patient responded to a 5 week combined IV therapy of amphotericin B + fluconazole although severe eyesight loss remained.
AIDS research and human retroviruses.AIDS Res Hum Retroviruses.2014 Apr 11. [Epub ahead of print]
We report an unusual case of immune reconstitution inflammatory syndrome (IRIS) unmasking a latent cryptococcal infection in a HIV-infected patient starting HAART. The patient developed endophtalmic, lymphadenopathic, neuromeningeal and probably skin and pulmonary involvement by Cryptococcus neoform
PMID 24724818

Caesarean section unmasking perivascular epithelioid cell tumour of the uterus.

Poomtavorn Y1, Warnnissorn N, Warnnissorn M, Boonyarangkul A.
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.J Obstet Gynaecol.2014 Apr 11. [Epub ahead of print]
PMID 24725138