Rev Invest Clin
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Cystic fibrosis (CF) is an autosomal recessive disorder characterized by chronic pneumopathy, pancreatic insufficiency, elevated sweat chloride levels and male infertility. It is caused by defects in the CF transmembrane conductance regulator (CFTR) gene, which encodes a protein that functions as a chloride channel. The identification of the CF-causing gene was a landmark in molecular medicine. ⋯ These mutations could cause totally (classes I-III) or partially (classes IV and V) loss of the protein function. The molecular defects resulting from different mutations in CFTR partially explain the clinical heterogeneity of the disease, suggesting the existence of modifier genes that are involved in modulating the phenotype and severity of the CF. In this review, we discuss the fundamental aspects and the recent progress that could give to the lector, the knowledge to understand the CFTR gene structure, the function of the CFTR protein, how CF mutations disrupt it, its phenotype consequences and finally, the strategies to design new therapies for the disease.
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Neuropathic pain (NP) is a heterogeneous entity with wide diversity of symptoms. Despite the controversies regarding its definition and classification, which difficult its epidemiology, it has been estimated that 4 million people, in USA develop NP. ⋯ We found 329 documents for further analysis, and with the aid of the literature results we generate this practice guidelines.
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Comparative Study
[Precision and accuracy of "a pocket" pulse oximeter in Mexico City].
Pulse oximeters are frequently used in the clinical practice and we must known their precision and accuracy. The objective was to evaluate the precision and accuracy of a "pocket" pulse oximeter at an altitude of 2,240 m above sea level. ⋯ The miniature oximeter Nonin is precise and accurate at 2,240 m of altitude. The observed levels of HbCO did not affect the performance of the equipment. The oximeter good performance, small size and low cost enhances its clinical usefulness.
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There are very few studies that analyze surgical morbidity and mortality in the general population and the factors associated with those events. ⋯ Surgical mortality in our series is low. In 0.3% of procedures it was detected a potentially preventable event. Postoperative deaths occurred in older patients with low albumin levels.
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Randomized Controlled Trial Comparative Study
[Decrease of folic acid and cognitive alterations in patients with epilepsy treated with phenytoin or carbamazepine, pilot study].
Phenytoin and carbamazepine were the antiepileptic drugs most frequently used in Mexico and throughout the world. Epileptic patients who take these drugs have a variety of collateral effects including the decrease of folates plasmatic level. Low seric folic acid concentration has been associated with a decline in cognitive functions. The administration of a combined treatment with folic acid could ameliorate these difficulties. ⋯ Treatment with folic acid is safe and without side effects, it improved the cognitive function in patients with epilepsy treated with phenytoin and carbamazepine.