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Dale S. DiSalvo Benjamin S. Oberman Joshua I. Warrick David Goldenberg 《Head and neck pathology》2016,10(2):188-191
Focal dermal hypoplasia (Goltz syndrome; GS) is an X-linked dominant disorder caused by a mutation in the porcupine homolog (PORCN) gene and is typically embryonically lethal for males. The presence of disease in males is usually the result of post-zygotic mutation, but may also be due to mosaicism. The presentation of this disorder is highly variable, but generally is characterized by cutaneous, skeletal, ocular, oral, dental, and aural defects. Cutaneous manifestations include foci of hypoplastic skin, abnormal pigmentation, and papillomatous growths. We present both the first case of a patient with GS related laryngeal obstruction due to papillary lymphoid hyperplasia in an adult, and the first case in a male patient. Clinical, histologic, and genetic features of the disease are discussed. Operative technique for management of the patient with pharyngeal lesions is detailed, and intraoperative photos are showcased. The challenge in airway evaluation and management is also highlighted as manifestations of GS are rarely encountered in the airway and can cause laryngeal obstruction. 相似文献
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Mortality in bullous pemphigoid: A systematic review and meta‐analysis of standardized mortality ratios
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Khalaf Kridin Naama Schwartz Arnon D. Cohen Shira Zelber‐Sagi 《The Journal of dermatology》2018,45(9):1094-1100
There are inconsistent data on mortality rates in patients with bullous pemphigoid (BP). Trends in mortality in BP throughout the years are yet to be established. The aim of the present study was to study the mortality in BP patients relative to the general population and to estimate trends in standardized mortality over the past 30 years. We performed a systematic review and meta‐analysis of observational studies in Medline, Embase and Scopus (1823–2017). Reference lists of included studies were also searched for eligible studies. Quality of evidence was assessed using the Newcastle–Ottawa Scale (NOS). A meta‐analysis was performed using random‐effects models to estimate pooled standardized mortality ratios (SMR) with 95% confidence intervals (CI). Meta‐regression models were used to investigate the secular trends in SMR. Ten studies were included covering the period 1960–2015 (1736 patients, 746 deaths). Pooled all‐cause SMR was 3.6 (95% CI, 2.6–5.0). There was no trend in all‐cause SMR across the last three decades (regression coefficient 0.02 [change in logSMR/year]; 95% CI, 0.04–0.08; P = 0.545). In conclusion, there is a 3.6‐fold increased mortality among patients with BP as compared with the age‐matched general population. The excess mortality in BP has not changed significantly over the past 30 years. 相似文献
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Jenie George B.A. Alon Barsheshet M.D. Arthur J. Moss M.D. David Martin M.D. Gregory Ouellet B.S. Scott McNitt M.S. Ilan Goldenberg M.D. 《Annals of noninvasive electrocardiology》2012,17(1):14-21
Background: Diabetes mellitus (DM) increases the risk for the development of both ischemic and nonischemic cardiomyopathy. We aimed to identify differences in response to cardiac resynchronization therapy with a defibrillator (CRT‐D) among DM patients with ischemic or nonischemic cardiomyopathy. Methods: Cox proportional hazards regression modeling was used to assess clinical response to CRT‐D (defined as CRT‐D vs. defibrillator‐only reduction in the risk of heart failure [HF] or death) and echocardiographic response (defined as percent reduction in left ventricular end diastolic and systolic volume [LVEDV and LVESV, respectively] at 12 month of follow‐up compared with baseline values) among 552 diabetic patients with ischemic (n = 367) or nonischemic (n = 185) cardiomyopathy enrolled in MADIT‐CRT. Results: The clinical benefit of CRT‐D was more pronounced among nonischemic patients (HR = 0.30 [P < 0.001] than among ischemic patients (HR = 0.59 [P = 0.004]; P for interaction = 0.10). Nonischemic patients also experienced significantly greater reductions in LVESV and LVEDV at 12 months with CRT‐D compared with ischemic patients (P < 0.001 for both). Subgroup analysis showed that the most pronounced reduction in HF or death with CRT‐D therapy occurred in nonischemic patients who were women (83% risk‐reduction [P < 0.001]), had a lower BMI (<30/kg/m2: 79% risk‐reduction [P < 0.001]), or had left bundle branch block at enrollment (82% risk‐reduction [P < 0.001]). Conclusions: The present study shows that treatment with CRT‐D in at‐risk cardiac patients with DM is associated with substantial reductions in the risk of HF or death and improvement in cardiac remodeling in those with ischemic and nonischemic cardiomyopathy, with a more pronounced benefit in patients with nonischemic disease. Ann Noninvasive Electrocardiol 2012;17(1):14–21 相似文献
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Vladimir Carli Peter Parzer Camilla Wasserman Birgitta Floderus Alan Apter Judit Balazs Shira Barzilay Julio Bobes Romuald Brunner Paul Corcoran Doina Cosman Padraig Cotter Romain Despalins Nadja Graber Francis Guillemin Christian Haring Jean‐Pierre Kahn Laura Mandelli Dragan Marusic Gergely Mészáros George J. Musa Vita Postuvan Franz Resch Pilar A. Saiz Merike Sisask Airi Varnik Marco Sarchiapone Christina W. Hoven Danuta Wasserman 《Addiction (Abingdon, England)》2012,107(12):2210-2222
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Shira Meir Drexler Christian J Merz Tanja C Hamacher-Dang Martin Tegenthoff Oliver T Wolf 《Neuropsychopharmacology》2015,40(13):3036-3043
The return of conditioned fear after successful extinction (eg, following exposure therapy) is a significant problem in the treatment of anxiety disorders and posttraumatic stress disorder (PTSD). Targeting the reconsolidation of fear memories may allow a more lasting effect as it intervenes with the original memory trace. Indeed, several pharmacological agents and behavioral interventions have been shown to alter (enhance, impair, or otherwise update) the reconsolidation of reactivated memories of different types. Cortisol is a stress hormone and a potent modulator of learning and memory, yet its effects on fear memory reconsolidation are unclear. To investigate whether cortisol intervenes with the reconsolidation of fear memories in healthy males and how specific this effect might be, we built a 3-day reconsolidation design with skin conductance response (SCR) as a measure of conditioned fear: Fear acquisition on day 1; reactivation/no-reactivation of one conditioned stimulus and pharmacological intervention on day 2; extinction learning followed by reinstatement and reinstatement test on day 3. The groups differed only in the experimental manipulation on day 2: Reactivation+Cortisol Group, Reactivation+Placebo Group, or No-reactivation+Cortisol Group. Our results revealed an enhancing effect of cortisol on reconsolidation of the reactivated memory. The effect was highly specific, strengthening only the memory of the reactivated conditioned stimulus and not the non-reactivated one. Our findings are in line with previous findings showing an enhancing effect of behavioral stress on the reconsolidation of other types of memories. These results have implications for the understanding and treatment of anxiety disorders and PTSD. 相似文献
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Alan C. Logan Joshua Z. Goldenberg Jane Guiltinan Dugald Seely David L. Katz 《Explore (New York, N.Y.)》2018,14(5):367-372
The World Health Organization strategy for global health includes a culturally-sensitive blending of western biomedicine with traditional forms of healing; in practical terms this approach is often referred to as integrative medicine. One distinct element within the systems of North American integrative healthcare is naturopathic medicine; while the basic premise of its fundamental approach to care – supporting healthy lifestyle behaviors – is as old as medicine itself, the early history of organized naturopathy in North America was heavy in theory and light on critical analysis. Dozens of questionable modalities and protocols have been housed under the rubric of naturopathy. It is our contention that the progression of professional naturopathic medicine in the 21st century – with goals of personal, public and planetary health – requires the active pursuit of critical analysis. We examine the primary guiding principles which drive the training and practice of North American naturopathic medicine; while these principles are laudable in the age of patient-centered care, we argue that there are shortcomings by absentia. We propose a seventh principle – Scientia Critica; that is, the ability to critically analyze accumulated knowledge – including scientific facts, knowledge about the self (critical consciousness) and values of the patient. 相似文献
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