Gac Med Mex
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The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving from oxygen. Its pathophysiological mechanism in ALS1 is related to ischemia. Several molecular studies of the SOD1 gene show that point mutations are the most frequent. ⋯ On the other hand, familial and sporadic cases have a different etiology, which is explained by molecular heterogeneity and multiple pathogenic mechanisms that lead to ALS1; oxidative stress and ischemia are not the only cause. In Mexico, ALS molecular genetics studies are scarce. Clinical studies show an increase in cytokines such as adipsin in cerebrospinal fluid.
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The physician that has the first contact with the patient is the general or family doctor, on whose initial assessment patient treatment success often depends. National and international treatment guidelines are designed for specialists in the area, and the primary care physician often finds them difficult to interpret. The purpose of this document is to offer primary care physicians the fundamentals for the diagnostic and reference process of patients with thyroid nodules and possibly with well-differentiated thyroid cancer, from an objective and pragmatic point of view. ⋯ The bases for a proper diagnosis of a thyroid tumor are patient history, physical examination and ultrasound. The results of these three initial assessment methods shall support the decision on the diagnostic-therapeutic process. This article explains the appropriate way to approach the diagnosis of a thyroid tumor, which studies are unnecessary, and which are the principles of thyroid cancer treatment.
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Lysosomal acid lipase deficiency is a genetic disease with a low prevalence and high morbidity and mortality in children and adults. It is characterized by an alteration of lipid metabolism, which generates cholesterol and triglyceride esters deposits in the body. Its clinical presentation depends on enzymatic activity. ⋯ Currently, there is the option of using a recombinant enzyme, which can improve lipid and liver parameters, as well as disease progression. Establishing a timely diagnosis in order to initiate specific treatment early is imperative for the prevention of morbidity and mortality. The purpose of this work is to perform a review of the literature about lysosomal acid lipase deficiency and to guide about its pathophysiology, clinical manifestations, diagnosis and treatment.
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Cannabis (marijuana) is one of the most consumed psychoactive substances in the world. The term marijuana is of Mexican origin. The primary cannabinoids that have been studied to date include cannabidiol and delta-9-tetrahydrocannabinol, which is responsible for most cannabis physical and psychotropic effects. ⋯ Marijuana must be processed in a laboratory to extract tetrahydrocannabinol and leave cannabidiol, which is the product that can be marketed. Some studies suggest cannabidiol has great potential for therapeutic use as an agent with antiepileptic, analgesic, anxiolytic, antipsychotic, anti-inflammatory and neuroprotective properties; however, the findings on cannabinoids efficacy and cannabis-based medications tolerability-safety for some conditions are inconsistent. More scientific evidence is required in order to generate recommendations on the use of medicinal cannabis.
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In Mexico, there are no appropriate statistical data on aortic disease, which can be treated with medical management or open or endovascular surgical approach. ⋯ An elevated rate of complications is reported for aortic pathologies due to underdiagnosis, which results in management being more complicated and prognosis unfavorable. The creation of a national aortic disease registry is crucial to standardization in the approach and optimization of results.