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Clinical Spectrum of Capillary Malformation–Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study
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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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Prevalence of vitamin D depletion among morbidly obese patients seeking gastric bypass surgery 总被引:5,自引:0,他引:5
Arthur M. Carlin M.D. D. Sudhaker Rao MB B.S. F.A.C.P. F.A.C.E. Ali M. Meslemani M.D. Jeffrey A. Genaw M.D. Nayana J. Parikh Shiri Levy M.D. Arti Bhan M.D. Gary B. Talpos M.D. 《Surgery for obesity and related diseases》2006,2(2):696-103
BACKGROUND: Abnormalities in calcium and vitamin D metabolism have been reported after bariatric surgery. The purpose of this study was to evaluate vitamin D nutritional status among morbidly obese patients before gastric bypass surgery. METHODS: We prospectively studied 279 morbidly obese patients seeking gastric bypass surgery for vitamin D nutritional status as assessed by serum 25-hydroxyvitamin D level. In addition, serum samples were analyzed for calcium, alkaline phosphatase (AP), intact parathyroid hormone (PTH), and 1,25-dihydroxyvitamin D. RESULTS: Mean patient age was 43 +/- 9 years; 87% of the study patients were women, and 72% were white. Serum calcium and AP levels were normal in 88% and 89% of the patients, respectively. Vitamin D depletion, defined as serum 25-hydroxyvitamin D level 相似文献
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LESLEY BOULTON MB CHB FRACO DO Ophthalmologist 《Clinical & experimental ophthalmology》1986,14(4):365-371
The Low Vision Clinic at the Palmerston North Hospital has now been oerating for 70 years. Over the course of these ten years a number of factors have emerged which can be as readily applied to general ophthalmological practice as to low vision practice. The philosophy of low vision care is one of which all ophthalmologists should be aware and includes factors to be taken into account when dealing with children, people in the workplace, and everyday factors involved in daily living activities, all of which are equally relevant in routine ophthalmological practice. This paper endeavours to share some thoughts on these factors and also discusses means by which the visually handicapped can be helped in areas where specialist low vision services are not readily available. 相似文献
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Comparison of trichloroethylene and enflurane as adjuncts to nitrous oxide and relaxant anaesthesia 总被引:1,自引:0,他引:1
Forty women who underwent gynaecological surgery were randomly allocated to receive trichloroethylene, enflurane, or enflurane plus fentanyl as adjuncts to nitrous oxide/relaxant anaesthesia with controlled ventilation. No serious cardiac dysrhythmias were seen in any group. Each patient was observed postoperatively for 4 hours by a nurse blind to the technique used, and questioned at 24 hours by a similarly blinded anaesthetist. Recovery after trichloroethylene was not significantly prolonged although postoperative analgesia by visual analogue was better, opiate analgesia was required less frequently and there was less nausea and vomiting than in either of the enflurane groups. We argue for the continued use of trichloroethylene by this technique, because it costs one hundred times less than enflurane and because of the potential morbidity of the postoperative opiate dosage required after enflurane. 相似文献
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A Sultan C Piot D Mariano-Goulart J P Daures F Comte E Renard A Avignon 《Diabetic medicine》2006,23(4):410-418
AIMS: To assess the association between abnormal stress myocardial perfusion imaging (MPI) and cardiac events (CE) in asymptomatic patients with diabetes and with > or = 1 additional risk factor. Predictors of abnormal stress MPI were also evaluated. METHODS: Four hundred and forty-seven consecutive patients who underwent stress MPI were prospectively followed for 2.1 [0.5-4.1] years for the subsequent occurrence of hard CE (myocardial infarction and sudden or coronary death) and soft CE (unstable angina and ischaemic heart failure requiring hospitalization). Re-vascularization procedures performed as a result of the screening protocol were not included in the analysis. RESULTS: Follow-up was successful in 419 of 447 patients (94%), of whom 71 had abnormal MPI at baseline. Medical therapy was intensified in all subjects and especially in those with abnormal MPI. Twenty-three patients with abnormal MPI underwent a re-vascularization procedure. CEs occurred in 14 patients, including six of 71 patients (8.5%) with abnormal MPI and eight of 348 patients (2.3%) with normal MPI (P < 0.005). Only two patients developed a hard CE and 12 a soft CE. In multivariate analysis, abnormal MPI was the strongest predictor for CEs [odds ratio (OR) (95% CI) = 5.6 (1.7-18.5)]. Low-density lipoprotein cholesterol > or = 3.35 mmol/l [OR (95% CI) = 7.3; 1.5-34.7] and age > median [OR (95% CI) = 6.0 (1.2-28.6)] were additional independent predictors for CE. The independent predictors for abnormal MPI were male gender, plasma triglycerides > or = 1.70 mmol/l, creatinine clearance < 60 ml/min and HbA1c > 8%, with male gender the strongest [OR (95% CI) = 4.0 (1.8-8.8)]. CONCLUSIONS: Asymptomatic patients with diabetes in this study had a very low hard cardiac event rate over an intermediate period. This could be explained by the effects of intervention or by the low event rate in the background population. Randomized studies of cardiac heart disease screening are required in asymptomatic subjects with diabetes to determine the effectiveness of this intervention. 相似文献