Calabrese E.,Hospital Espanol
Neurologia Argentina | Year: 2017
Introduction: Late-onset Pompés disease is a rare autosomal recessive disorder which usually presents as a limb-girdle myopathy with early respiratory involvement. We report a case of a delayed Pompe's disease diagnosis in a patient with fibromyalgia-like pain. Clinical case: The patient had a long history of fibromyalgia-like pain without improvement with pregabalin. At clinical examination, 15 sensitive points were observed along with lower extremity weakness. Pulmonary function test revealed normal values upright and a 19% reduction in vital capacity with recumbent position, suggestive of diaphragmatic compromise. The serum creatine kinase level was mildly elevated and a dried blood spot test indicated acid maltase deficiency. The diagnosis of late-onset Pompe's disease was confirmed by leukocyte test of acid maltase deficiency. Conclusions: Clinicians should be aware of this atypical presentation of late-onset Pompe's disease to avoid unnecessary delays in diagnosis and treatment. © 2017 Sociedad Neurológica Argentina.
Calabrese E.,Hospital Espanol
Neurologica Argentina | Year: 2017
Introduction: Late-onset Pompeís disease is a rare autosomal recessive disorder which usually presents as a limb-girdle myopathy with early respiratory involvement. We report a case of a delayed Pompe’s disease diagnosis in a patient with fibromyalgia-like pain. Clinical case: The patient had a long history of fibromyalgia-like pain without improvement with pregabalin. At clinical examination, 15 sensitive points were observed along with lower extremity weakness. Pulmonary function test revealed normal values upright and a 19% reduction in vital capacity with recumbent position, suggestive of diaphragmatic compromise. The serum creatine kinase level was mildly elevated and a dried blood spot test indicated acid maltase deficiency. The diagnosis of late-onset Pompe’s disease was confirmed by leukocyte test of acid maltase deficiency. Conclusions: Clinicians should be aware of this atypical presentation of late-onset Pompe’s disease to avoid unnecessary delays in diagnosis and treatment. © 2017 Sociedad Neurológica Argentina. Published by Elsevier España, S.L.U. All rights reserved.
Osorio-Yanez C.,CINVESTAV |
Ayllon-Vergara J.C.,Hospital Espanol |
Aguilar-Madrid G.,Instituto Mexicano del Seguro Social |
Hernandez-Castellanos E.,CINVESTAV |
And 3 more authors.
Environmental Health Perspectives | Year: 2013
Background: Arsenic exposure is a risk factor for atherosclerosis in adults, but there is little information on arsenic and early risk biomarkers for atherosclerosis in children. Carotid intima-media thickness (cIMT) is an indicator of subclinical atherosclerotic burden that has been associated with plasma asymmetric dimethylarginine (ADMA), a predictor of cardiovascular disease risk. Objectives: The aim of this study was to investigate associations of arsenic exposure with cIMT, ADMA, and endothelial adhesion molecules [soluble intercellular cell adhesion molecule-1 (sICAM-1); soluble vascular cell adhesion molecule-1 (sVCAM-1)] in children who had been exposed to environmental inorganic arsenic (iAs). Methods: We conducted a cross-sectional study in 199 children 3-14 years of age who were residents of Zimapan, México. We evaluated cIMT using ultrasonography, and plasma lipid profiles by standard methods. We analyzed ADMA, sICAM-1, and sVCAM-1 by ELISA, and measured the concentrations of total speciated arsenic (tAs) in urine using hydride generation cryotrapping atomic absorption spectrometry. Results: In the multiple linear regression model for cIMT, tAs categories were positively associated with cIMT increase. The estimated cIMT diameter was greater in 35- to 70-ng/mL and > 70-ng/mL groups (0.035 mm and 0.058 mm per 1-ng/mL increase in urinary tAs, respectively), compared with the < 35-ng/mL group. In addition to tAs level, plasma ADMA was a significant predictor of cIMT. In the adjusted regression model, cIMT, percent iAs, and plasma sVCAM-1 were significant predictors of ADMA levels (e.g., 0.419-μmol/L increase in ADMA per 1-mm increase in cIMT). Conclusions: Arsenic exposure and plasma ADMA levels were positively associated with cIMT in a population of Mexican children with environmental arsenic exposure through drinking water.
Baranchuk A.,Queen's University |
Nguyen T.,Queen's University |
Ryu M.H.,Queen's University |
Femenia F.,Hospital Espanol |
And 5 more authors.
Annals of Noninvasive Electrocardiology | Year: 2012
Brugada syndrome is a channelopathy characterized on ECG by coved ST-segment elevation (≥2 mm) in the right precordial leads and is associated with an increased risk of malignant ventricular arrhythmias. The term Brugada phenocopy is proposed to describe conditions that induce Brugada-like ECG manifestations in patients without true Brugada syndrome. An extensive review of the literature identified case reports that were classified according to their suspected etiological mechanism. Future directions to learn more about these intriguing cases is discussed. © 2012, Wiley Periodicals, Inc.
Cheung A.C.,University of Toronto |
Lapointe-Shaw L.,University of Toronto |
Kowgier M.,University of Toronto |
Meza-Cardona J.,Hospital Espanol |
And 3 more authors.
Alimentary Pharmacology and Therapeutics | Year: 2016
Background Fibrates appear to improve biochemistry in patients with primary biliary cholangitis (PBC), but it is unclear which factors predict response and whether treatment improves transplant-free survival. Aim To evaluate biochemical profiles, liver-related outcomes and adverse events following fenofibrate therapy in PBC patients with incomplete response to ursodeoxycholic acid (UDCA). Methods A retrospective cohort study was performed at a tertiary centre. Cox regression was used to compare outcomes between patients treated with fibrates and UDCA (FF) or UDCA alone, adjusted for a propensity score to account for treatment selection bias. Results A total of 120 patients were included (FF group n = 46, UDCA group n = 74, median fenofibrate treatment 11 months); 41% vs. 7% met the Toronto criteria for biochemical response [alkaline phosphatase ≤1.67 times the upper limit of normal] in the FF and UDCA groups, respectively (P = 0.0001). Fenofibrate was also associated with improved decompensation-free and transplant-free survival [hazard ratio (HR) 0.09, 95% CI 0.03-0.32, P = 0.0002]. However, only fenofibrate use, not biochemical response, was independently associated with improved outcomes on multivariable analysis (HR 0.40, 95% CI 0.17-0.93, P = 0.03). Twenty-two percent discontinued fenofibrate due to adverse events (most common: abdominal pain and myalgias). In cirrhotic patients, bilirubin increased more rapidly in the FF group (P = 0.005). Conclusions Fenofibrate therapy is associated with significant improvement in alkaline phosphatase, decompensation-free and transplant-free survival in PBC patients with incomplete UDCA response. However, fenofibrate should be used cautiously in cirrhosis, with close monitoring for clinical/biochemical decompensation. Additional studies are required to assess the validity of alkaline phosphatase as an appropriate response criteria for fibrate therapy. © 2015 John Wiley & Sons Ltd.
Bassotti A.,Hospital Espanol |
Moreno S.,Dr Humberto Notti Childrens Hospital |
Criado E.,Hospital Espanol
Pediatric Dermatology | Year: 2011
We reported the efficacy of topical cutaneous N-acetylcysteine in children with type I lamellar ichthyosis. The drug was applied on predetermined body surface areas two times a day for 6 weeks, followed by a daily maintenance application. During the first 2 weeks of treatment, a significant improvement occurred. After 4 months of maintenance application, a marked overall improvement occurred in all the treated areas. Only two patients showed mild adverse effects such as light burning, pruritus, and irritation. Even though a larger group of patients should be necessary to confirm the data, topical 10% N-acetylcysteine emulsion prepared in urea 5% seems to be a valuable and safe therapeutic option for lamellar ichthyosis in children, with benefit not only for skin lesions but also for ectropion avoiding a surgical procedure. © 2011 Wiley Periodicals, Inc.
Vazquez-Benitez E.,Hospital Espanol
Ginecologia y Obstetricia de Mexico | Year: 2014
In view of the widespread wrong use in spanish of the erroneous translation of Evidence-based Medicine as “medicina basada en la evidencia”, comments are made from the general concepts of phylosophy, particularly from the chapter of “semiotics”, which demonstrate the falacious use of such a wrong translation and the dangers of its indiscriminate use of this procedure, that may be very valuable in its methodology as proposed by its founders and understood by englsh-speaking physicians, making emphasis in the fact that it is just a method to obtain a better level of certainty and not a system that should replace the criteria employed in traditional medicine. Examples are offered of several serious mistakes that have been made by the erroneous application of results offered even in articles published in english.Finally, a review is made of articles published in five prestigious journals and the difficulty of interpreting their contents as a source of clinically useful information. A novel procedure is proposed as a possible alternative for assessing medical literature. © 2014, Asociacion Mexicana de Ginecologia y Obstetricia. All rights reserved.
Ferreira C.A.A.,Hospital Espanol
Revista Mexicana de Pediatria | Year: 2013
Ambiguous genitalia is a term used to describe a patient in whose general inspection and complete physical evaluation, gender assignment as male or female is not possible. It can be classified according to its etiology as genetic or embrionary defects with phenotypical effect. Ambiguous genitalia is generally seen in newborns and its considered a medical, psychological and social emergency, leading to the importance of an early diagnosis. In the period of 15 months, between 2010 and 2011 were born in the hospital for three children with ambiguous genitalia, but doing a review on this topic, we thought it was desirable to have a protocol to be followed in the management of these children; This was the way in which we believe, that this would be multidisciplinary, for joining the experiences between the specialists in the diagnosis of this malformation; to decide the steps to be followed in these children.
Vazquez-Benitez E.,Hospital Espanol
Ginecologia y Obstetricia de Mexico | Year: 2010
Is taken as a paradigm of the physician Hippocrates devoted to care of the sick individual. Under the format of a fictional history focus aspects of the existential problems that affect the current physician in the exercise of their profession to analyze its causes and suggests some possible interventions of the doctors themselves to solve them. It insists that medicine is the art of applying science and technology to solving health problems of the individual and society, in which doctors study and practice the profession to serve others and that medicine not a commodity to be bought or sold according to market rules. Also emphasizes the concept that health is a basic right of man and not a gift or compliment to anyone or only product of legislation. The medical fee is fair, but not enough on a salary or wage, let alone the terms of a tab based on the benefit to investors, institutions or intermediaries, must be complemented with additional features that guarantee a dignified life. These principles must be preserved at all costs and prevent the market outside interests or "industrialize." The first step to solving problems is to become aware of them and understand them. We present possible solutions.
Frati-Munari A.C.,Hospital Espanol
Revista Mexicana de Angiologia | Year: 2012
Glycosaminoglycans (GAGs) are formed by long chains of dimers of an amino-sugar and an uronic acid, mostly sulfated and bound to proteins in proteoglycans. GAGs are located in the extracellular matrix of every organ and they perform several functions. In vessels they form the endothelial glycocalyx and are found in the extracellular matrix of endothelium and subendothelium. Glycocalyx is the first barrier between endothelial cells and the bloodstream with its shear stress, adhesion molecules, circulating cells and coagulation components. GAGs in extracellular matrix (mainly heparan sulfate) regulate activity of chemokines, cytokines, growth factors, cell migration and molecule filtration through endothelium. Chronic venous hypertension damages glycocalyx allowing adhesion molecules activity and inflammation causing endothelium and deeper venous wall impairment, deforming venous valves and favoring filtration of liquids, proteins and cells into the pericapillary and perivenular space, leading to skin inflammation and ulceration. Impaired glycocalyx and endothelial dysfunction are also important initial steps in the atherosclerotic process and in diabetic microangiopathy. GAGs are involved in these pathogenetic ways. Therapeutic GAGs in vascular diseases includes heparin for prevention and treatment of thrombosis, and sulodexide. The latter has been particularly useful in the treatment of advanced stage chronic venous disease with skin ulceration. Also, has been successfully used in peripheral obstructive arteriopathy and in diabetic microangiopathy.