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排序方式: 共有5022条查询结果,搜索用时 15 毫秒
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Clinical Spectrum of Capillary Malformation–Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study 下载免费PDF全文
Nicole A. Weitz M.D. Christine T. Lauren M.D. Gerald G. Behr M.D. June K. Wu M.D. Jessica J. Kandel M.D. Philip M. Meyers M.D. Sally Sultan M.D. Kwame Anyane‐Yeboa M.D. Kimberly D. Morel M.D. Maria C. Garzon M.D. 《Pediatric dermatology》2015,32(1):76-84
Capillary malformation–arteriovenous malformation syndrome (CM‐AVM) is an autosomal dominant disorder caused by RASA1 mutations. The prevalence and phenotypic spectrum are unknown. Evaluation of patients with multiple CMs is challenging because associated AVMs can be life threatening. The objective of this study was to describe the clinical characteristics of children presenting with features of CM‐AVM to an academic pediatric dermatology practice. After institutional review board approval was received, a retrospective chart review was performed of patients presenting between 2009 and 2012 with features of CM‐AVM. We report nine cases. Presenting symptoms ranged from extensive vascular stains and cardiac failure to CMs noted incidentally during routine skin examination. All demonstrated multiple CMs, two had Parkes Weber syndrome, and two had multiple infantile hemangiomas. Seven patients had family histories of multiple CMs; three had family histories of large, atypical CMs. Six had personal or family histories of AVMs. Genetic evaluation was recommended for all and was pursued by six families; four RASA1 mutations were identified, including one de novo. Consultations with neurology, cardiology, and orthopedics were recommended. Most patients (89%) have not required treatment to date. CM‐AVM is an underrecognized condition with a wide clinical spectrum that often presents in childhood. Further evaluation may be indicated in patients with multiple CMs. This study is limited by its small and retrospective nature. 相似文献
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Infantile Digital Fibroma Treated With Mohs Micrographic Surgery 总被引:2,自引:0,他引:2
John G. Albertini MD Maj USAF MC Michael Jude Welsch MD CPT USA MC Leo A. Conger MD LTC USA MC Lester F. Libow MD COL USA MC Dirk M. Elston MD COL USA MC 《Dermatologic surgery》2002,28(10):959-961
BACKGROUND: Infantile digital fibroma (IDF) is a rare benign fibrous tumor of childhood that frequently recurs despite local excision. Conservative, nonsurgical management may result in regression and/or joint deformity. OBJECTIVE: To describe the histologic features of IDF and discuss a case excised using Mohs micrographic surgery (MMS). METHODS: Case report and review of the clinical, histologic, and ultrastructural features. RESULTS: Characteristic inclusion bodies of actin were identified with hematoxylin and eosin, Masson's trichrome, and rapid actin immunostain. The tumor was debulked and the majority was removed after one stage of MMS, except where the deep margin approached the joint space. The defect healed by secondary intention. At 2 years the patient had no recurrence or functional joint deformity. CONCLUSION: MMS is a surgical treatment option for IDF. 相似文献
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Nonocclusive mesenteric ischemia (NOMI) is a disorder with an extremely high mortality. Salvage of affected patients requires early recognition and aggressive intervention to prevent intestinal gangrene. Dialysis patients represent a group at particularly high risk for this condition. Clinicians should develop a high index of suspicion for NOMI in dialysis patients to lessen the risk of death. A high interventional posture must be maintained due to the notoriously unreliable signs and symptoms of this disorder. 相似文献
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HJ Aubin S Tilikete C Laureaux HT Nguyen Hac MC Roullet-Volmi S Troupel D Barrucand 《European psychiatry》1995,10(8)
The aim of this study was to assess alcoholic inpatients' smoking and coffee intake variation following withdrawal. Only moderate smokers (less than 30 cigarettes/day) showed a significant increase of cigarette consumption after alcohol withdrawal. However, their urinary cotinine level did not vary, suggesting a behavioral, and not biological, compensation through smoking following alcohol withdrawal. Heavy smokers (30 cigarettes/day or more) showed no significant clinical or biological variation of smoking behavior. Coffee consumption increased after alcohol withdrawal in all patients, irrespective of smoking habits. 相似文献
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Several underlying metabolic abnormalities may be present in patients with recurrent calcium calculus disease (RCCD). The aim of this study was to determine the prevalence of deficiencies of 2 well-known potent inhibitors of crystal formation and growth, citrate and pyrophosphate, in the various metabolic subgroups and as single defects. In 107 patients with RCCD, urinary citrate was significantly decreased in all metabolic subgroups with 49% of patients having hypocitraturia (2.53 +/- 1.19 mmol/24 h) versus controls (3.44 +/- 0.96 mmol/24 h; p less than 0.001). Reduced pyrophosphate:creatinine ratios were present in all the patient subgroups, and 48% of all patients had reduced ratios (1.68 +/- 1.68 vs. 3.10 +/- 2.66 in controls; p less than 0.01). There was no correlation between citrate and pyrophosphate concentration. Isolated hypocitraturia was found in 11.2%, reduced pyrophosphate:creatinine ratios as the single defect in 11.2% and a combination of both in 12.1% of patients. Thus inhibitor defects play an important role in patients with RCCD and frequently occur as isolated biochemical defects. 相似文献
9.
J S Wayne D Amiel M K Kwan S L Woo A Fierer M H Meyers 《Acta orthopaedica Scandinavica》1990,61(6):539-545
We have studied long-term (to 60 days) effects of 4 degrees C storage in culture media on the histologic, mechanical, and chemical properties of the cartilage from osteochondral shell allografts from the dog. The structural integrity of the cartilage matrix was intact up to 60 days of storage, for the mechanical properties represented by the aggregate modulus and apparent permeability remained normal. These data are supported by normal safranin-O staining as well as normal glycosaminoglycan content and total collagen concentration. However, chondrocyte viability, as assessed by 35SO4 uptake and hematoxylin and eosin preparations, decreased dramatically with time. We believe that the longer storage to 60 days is not indicated, unless conditions can be modified to maintain cell viability. 相似文献
10.
Xian ZH Zhang SH Cong WM Wu WQ Wu MC 《第二军医大学学报》2005,26(11):1320-1320
BACKGROUND: Hepatocellular carcinoma (HCC) is one of the most prevalent fatal cancers in the world. Despite advances in early diagnosis and improvements in surgical techniques, the survival of patients with HCC even after resection is poor because of the high incidence of recurrences. Therefore, the identification of prognostic factors may be helpful in the development of new treatment protocols. AIMS: To investigate HER-2/neu status in HCC by immunohistochemistry (IHC) and fluorescence in situ hybridisation (FISH), and to explore the possibility of using trastuzumab in the treatment of HCC. METH ODS: Eight hundred and sixty eight surgical samples from patients with primary HCC were examined for their HER-2/neu status. IHC for HER-2/neu was performed with the HercepTest kit; FISH analysis was performed with the PathVysion HER-2 DNA probe kit. The correlations between HER-2/neu overexpression and clinicopathological characteristics were analysed statistically. RESULTS: HER-2/neu overexpression was detected in 21 (2.42%) of the 868 primary HCCs. Only one specimen showed HER-2/neu gene amplification by FISH. No significant associations were found between HER-2/neu overexpression and the clinicopathological parameters. CONCLUSIONS: There is a low frequency of HER-2/neu overexpression/amplification in HCC. There appears to be no role for HER-2/neu as a prognostic marker and no benefit of anti-HER-2/neu trastuzumab treatment in patients with HCC. 相似文献