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An overview is presented of the many opportunities and challenges for using “Big Data” concepts to treat data from chemical sensors. Issues discussed include the need to make data machine readable ...

Las hiperfenilalaninemias, alteraciones en el metabolismo de la fenilalanina, poseen heterogeneidad genética, clínica y bioquímica, con fenilalanina en plasma, mayor de 120 µmol/L (2 mg/dL). La benigna tiene valores entre 240 y 600 µmol/L (4 a 10 mg/dL) con mayor actividad enzimática y no requiere tratamiento dietético. Se realizó una valoración clínica y de laboratorio a 32 niños con esta alteración al nacimiento entre 1989 y 1999, para conocer variaciones en las concentraciones séricas en el tiempo, presentación de algún síntoma o signo clínico de la enfermedad y el coeficiente de inteligencia de estos. Los 32 niños estudiados presentaron disminución de niveles del aminoácido, con respecto al nacimiento, entre 90 y 287 µmol/L (1, 5 mg/dL a 5, 52 mg/dL). La mayoría no mostró síntomas o signos clínicos de fenilcetonuria. El coeficiente de inteligencia promedio fue de 100,6 puntos. Se recomienda el estudio a todos los niños con esta alteración en Cuba y realizar estudios de mutaciones para demostrar la heterogeneidad alélica que explicara la expresividad variable en el fenotipo bioquímico y clínico en estos niños.Hyperphenylalaninemias, which are disorders in the metabolism of phenylalanine, show genetic, clinical and biochemical heterogeneity, with phenylalanine in plasma over 120 µmol/L (2 mg/dL). Benign hyperphenylalaninemia has values from 240 to 600 µmol/L (4 a 10 mg/dL) with higher enzymatic activity and does not require diet therapy. A clinical and lab assessment of 32 children with this disorder at birth was made from 1989 to 1999 to find out the variations in time of serum concentrations, occurrence of some clinical symptom or sign of the disease and their intelligence quotient. The 32 studied children presented with reduction of aminoacid levels of 90 to 287 µmol/L (1, 5 mg/dL a 5, 52 mg/dL) with respect to birth levels. The majority did not show clinical symptoms or signs of phenylketonuria. Average intelligence quotient was 100.6 points. It was recommended to study all the children suffering from this disease in Cuba and to carry out research studies of mutations to prove the allele heterogeneity that explains the variable expressiveness in the biochemical and clinical phenotype in these children.

Os sintomas do trato urinário feminino são inespecíficos e se faz necessário correta investigação clínica para se estabelecer o diagnóstico da incontinência urinária. Tal avaliação consiste em história clínica, questionário de qualidade de vida, exame físico, diário miccional, teste do absorvente e estudo urodinâmico. O estudo urodinâmico é extensão da história e do exame físico para melhor avaliar a etiologia das queixas das pacientes. O objetivo deste artigo é revisar os métodos utilizados para o diagnóstico clínico e subsidiário da incontinência urinária. Female lower urinary tract symptoms are nonspecific and a clinical evaluation is required to establish the correct diagnosis. Such evaluation should consist of a structured micturition history or questionnaire, physical examination, micturition diary, pad test, and urodynamic evaluation. Urodynamic investigation was developed as an extension of patient history and physical examination in order to reveal the etiology of the patient's complaints. The goal of the present article is to review clinical and subsidiary diagnosis of urinary incontinence.