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1.
B Gerdts AFPM Vloemans RW Kreis 《Journal of the European Academy of Dermatology and Venereology》2007,21(6):781-788
BACKGROUND: Toxic epidermal necrolysis (TEN) is a severe and potentially fatal drug reaction characterized by an extensive skin rash with blisters and exfoliation, frequently accompanied by mucositis. The wounds caused by TEN are similar to second-degree burns and severe cases may involve large areas of skin loss. OBJECTIVES: Analysis of our results in patients with TEN and evaluation of the variety of therapeutic interventions that has been studied and suggested in TEN. PATIENTS/METHODS: Retrospective analysis of 19 consecutive patients with TEN treated in our burns centre between 1989 and 2004. RESULTS: Immediate withdrawal of any potentially fatal drug, maximum supportive care, and a restricted and tailored antibiotic, medical and surgical treatment regimen confined mortality to 21%, whereas prognosis scores like APACHE II and SCORTEN predicted mortality of 22 and 30%, respectively. A positive contribution of selective digestive decontamination is suggested but has yet to be established. CONCLUSIONS: Because of a potentially fatal outcome, fast referral of a patient suspected of TEN to a specialized centre (mostly a burns unit or specialized dermatology centre) for expert wound management and tailored comprehensive care is strongly advised and contributes to survival. 相似文献
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Drew T. Marshall John D. Gilbert Roger W. Byard 《Forensic science, medicine, and pathology》2007,3(1):53-55
A 26-year-old man who presented with a 2-year history of intermittent gynecomastia with recent onset of fever, night sweats,
and abdominal distension was found to have a left-sided adrenocortical carcinoma with metastases to the liver and spine. Sudden
death occurred 1 month after his presentation. At autopsy a saddle pulmonary thromboembolus was found occluding the pulmonary
outflow tract, with smaller more peripheral pulmonary thromboemboli. No tumor deposits were identified in the thromboemboli.
The thromboemboli had arisen from a tongue of tumor that had grown through the left adrenal vein into the inferior vena cava.
Despite a high rate of angio-invasion there are very few reports of sudden death resulting from this phenomenon in patients
with adrenocortical carcinoma. 相似文献
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1背景 育龄妇女常见慢性下腹痛,可造成身体损害、情绪忧伤及导致巨大的健康服务费用。美国在这方面的花费超过8亿8千万美元(Mathias 1996)。英国全国数据库的一般性诊治资料显示,慢性下腹痛发病率及流行率与偏头痛、背部痛、哮喘发病率相似(Zondervan 1999)。 相似文献
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Direct molecular diagnosis of myotonic dystrophy 总被引:2,自引:0,他引:2
B. K. Hecht A. Donnelly A. K. Gedeon R. W. Byard E. A. Haan J. G. Mulley 《Clinical genetics》1993,43(6):276-285
Hecht BK, Donnelly A, Gedeon AK, Byard RW, Haan EA, Mulley JC. Direct molecular diagnosis of myotonic dystrophy. Clin Genet 1993: 43: 276–285. © Munksgaard, 1993 Myotonic dystrophy (DM) arises from an unstable trinucleotide (CTGn) repeat sequence within the DM locus at 19q13.3. Twenty-three myotonic dystrophy families containing 205 persons with no symptoms, minimal manifestations, classic DM or congenital DM were investigated to validate the application of the pM10M6 probe to direct molecular diagnosis. Affected family members had been diagnosed clinically and the unaffected family members had been assigned carrier probabilities close to either zero or 100%, using closely linked flanking markers. Southern analysis identified all 89 DM gene carriers as having expansions of the unstable element. PstI detected all small expansions of the repeat sequence as easily seen discrete bands; but large expansions were usually seen as diffuse smears, sometimes difficult to distinguish from lane background. EcoRI concentrated these diffuse smears, associated with somatic instability, into discrete bands which were easy to detect; but it did not resolve the smaller expansions present in 9 (10%) of the DM carriers. It is essential that PstI and EcoRI gels are run in parallel to detect all DM gene carriers. The extent of expansion of CTG correlated with age of onset and disease severity. Biopsies of various fetal tissues from two terminated pregnancies confirmed the diagnosis obtained by CVS and revealed no heterogeneity between tissues at this developmental stage. Further expansion occurred during the culture of CVS cells, indicating that direct prenatal diagnosis needs to be carried out on CVS tissue rather than on cultured cells. The intergenerational change of the repeat sequence from DM parent to DM offspring showed a significant parental sex difference for those parents with large expansions. Contraction of the unstable element was observed in the three males carrying the largest expansions and could explain why congenital DM is exclusively of maternal origin. 相似文献
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