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31.
M Vreeburg M van Geel LGT van den Heuij PM Steijlen MAM van Steensel 《Journal of the European Academy of Dermatology and Venereology》2011,25(5):592-595
Background Focal dermal hypoplasia (FDH) is an X‐linked dominant disorder caused by nonsense mutations and deletions in the PORCN gene coding for a transmembrane endoplasmic reticulum protein required for Wingless signalling. Symptoms consist mainly of linear atrophic skin defects, skeletal deformities and, in many cases, mental retardation. Osteopathia striata is a nearly constant feature. Approximately 90% of patients are women. A few instances of father‐to‐daughter transmission and a number of sporadic male cases presumably as a result of somatic mosaicism have been recorded. Objectives The aim of this study was to demonstrate the presence of somatic mosaicism for PORCN mutations in a male patient. Methods We sequenced the PORCN gene in different tissues from a boy with symptoms of FDH. Results We demonstrate post‐zygotic mosaicism for a novel deletion in the PORCN gene. Conclusions A novel PORCN deletion, present in a post‐zygotic mosaic, causes focal dermal hyplasia in a male patient. 相似文献
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Contrast enhancement in Lhermitte-Duclos disease of the cerebellum: correlation of imaging with neuropathology in two cases 总被引:2,自引:1,他引:1
Spaargaren L Cras P Bomhof MA Lie ST de Barsy AM Croese PH Teepen JL Duwel VH Van Goethem JW Ozsarlak O van den Hauwe L De Schepper AM Parizel PM 《Neuroradiology》2003,45(6):381-385
Lhermitte-Duclos disease (LDD), also known as dysplastic gangliocytoma, is a rare cerebellar lesion. It has long been regarded as avascular. We report two patients with surgically proven LDD in whom contrast enhancement was observed on MRI. Neuropathological examination revealed proliferation of veins. We suggest that peripheral enhancement of LDD probably reflects vascular proliferation of the cerebellar venous draining system, and should be considered part of the imaging features of LDD. 相似文献
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Rizatriptan (MAXALT(TM), Merck & Co., Inc.) is a selective 5-HT(1B/1D) receptor agonist with rapid oral absorption and early onset of action for the acute treatment of migraine. This randomized, double-masked, double-dummy, placebo-controlled study compared rizatriptan 10 mg to naratriptan (NARAMIG(TM), AMERGE(TM), both Glaxo Wellcome plc) 2.5 mg in 522 patients treating a single migraine attack. Rizatriptan was more effective than naratriptan. Rizatriptan provided earlier headache relief than naratriptan (hazard ratio 1.62, p < 0.001), acting as early as 30 min. More patients were pain free at 2 h on rizatriptan than on naratriptan (44.8 vs. 20.7%, p < 0.001). Rizatriptan also provided earlier relief of associated migraine symptoms within 2 h than naratriptan and more patients had normal function at 2 h (39.3 vs. 22.6%, p < 0. 001). Both active treatments were effective compared to placebo. Both active treatments were well tolerated. The most common side effects with rizatriptan were dizziness, asthenia/fatigue, nausea and somnolence, while the most common side effects with naratriptan were dizziness and asthenia/fatigue. 相似文献