Concordancia entre observadores de videos de pacientes con sospecha diagnóstica de autismo y psicosis infantiles / Inter-rater Reliability in Videos of Patients with a Suspected Diagnostic of Autism and Child Psychosis

RESUMEN Introducción: Dados la complejidad del abordaje y el tratamiento del autismo y las psicosis infantiles y el impacto que tienen en la vida del niño y su familia, es fundamental ser cautos a la hora de hacer un diagnóstico que tiene implicaciones pronosticas. Se utiliza la perspectiva psicodinámica para acceder a la posibilidad de incluir en el diagnóstico aspectos tanto patológicos como sanos y promover el potencial evolutivo de cada paciente. Objetivo: Determinar la concordancia entre evaluadores y evaluar cuantitativa y cualitativa mente las variables que influyen en el diagnóstico de pacientes con sospecha de autismo y psicosis infantiles desde la perspectiva psicodinámica. Métodos: Se realizó un estudio de concordancia entre observadores basado en la evaluación diagnóstica de videos de pacientes con sospecha de autismo o psicosis infantiles que asisten a junta diagnóstica (sesión de observación) en el Instituto de Ortopedia Infantil Roosevelt. Resultados: Se obtuvieron valores de kappa que oscilaron en general entre 0,24 y 0,50, con una fuerza de concordancia que varió de leve a moderada y K = 0,24 para la organización de personalidad. Esta manera de diagnosticar toma en consideración los aspectos tanto patológicos como saludables que constituyen la organización de personalidad. Al final se discuten las limitaciones y los puntos que tener en cuenta en los estudios posteriores. Conclusiones: Se recomienda que evalúe al niño con perturbaciones mayores un equipo interdisciplinario, y no un solo observador, pues este espacio favorece la discusión, que es crucial a la hora de establecer un diagnóstico y evita lecturas parciales del funcionamiento psíquico del paciente que consulta.

ABSTRACT Introduction: Diagnosing and treating autism and child psychoses is very difficult; these pathologies impact not only the child's life but also the family as a whole. Therefore caution is required when giving a diagnosis with prognostic implications. We use the psychodynamic perspective in order to take into consideration both pathological and healthy diagnostic aspects, and to promote evolutionary potential of each patient. Objective: To determine the inter-rater reliability and to test quantitatively and qualitati vely the variables involved in the diagnoses of patients with suspected autism and child psychoses, based upon psychodynamic concepts. Methods: An inter-rater reliability study was carried on, based upon the diagnostic evaluation of videos of patients with suspected autism or child psychoses who attended the diagnostic meeting (observation session) at the Instituto de Ortopedia Infantil Roosevelt. Results: Kappa values were obtained, ranging from .24 to .50, with a reliability force varying from slight to moderate, and K=.24 for personality organization. This type of diagnosis takes into account both the pathological and healthy aspects which make up personality orga nization. Finally, limitations and aspects that should be considered in further studies were discussed. Conclusions: The results reinforce the need to evaluate a child with major disorders in an interdisciplinary team, and but a single observer, in order to allow discussion, and debate, and therefore, avoid partial readings of the patient's psychological functioning.

Inter-rater Reliability in Videos of Patients With a Suspected Diagnostic of Autism and Child Psychosis. / Concordancia entre observadores de videos de pacientes con sospecha diagnóstica de autismo y psicosis infantiles.

INTRODUCTION: Diagnosing and treating autism and child psychoses is very difficult; these pathologies impact not only the child's life but also the family as a whole. Therefore caution is required when giving a diagnosis with prognostic implications. We use the psychodynamic perspective in order to take into consideration both pathological and healthy diagnostic aspects, and to promote evolutionary potential of each patient. OBJECTIVE: To determine the inter-rater reliability and to test quantitatively and qualitatively the variables involved in the diagnoses of patients with suspected autism and child psychoses, based upon psychodynamic concepts. METHODS: An inter-rater reliability study was carried on, based upon the diagnostic evaluation of videos of patients with suspected autism or child psychoses who attended the diagnostic meeting (observation session) at the Instituto de Ortopedia Infantil Roosevelt. RESULTS: Kappa values were obtained, ranging from .24 to .50, with a reliability force varying from slight to moderate, and κ=.24 for personality organization. This type of diagnosis takes into account both the pathological and healthy aspects which make up personality organization. Finally, limitations and aspects that should be considered in further studies were discussed. CONCLUSIONS: The results reinforce the need to evaluate a child with major disorders in an interdisciplinary team, and but a single observer, in order to allow discussion, and debate, and therefore, avoid partial readings of the patient' s psychological functioning.

Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).

BACKGROUND: Approximately 5 to 10% of all cancers are caused by inherited germline mutations, many of which are associated with different Hereditary Cancer Syndromes (HCS). In the context of the Program of Hereditary Cancer of the Valencia Community, individuals belonging to specific HCS and their families receive genetic counselling and genetic testing according to internationally established guidelines. The current diagnostic approach is based on sequencing a few high-risk genes related to each HCS; however, this method is time-consuming, expensive and does not achieve a confirmatory genetic diagnosis in many cases. This study aims to test the level of improvement offered by a Next Generation Sequencing (NGS) gene-panel compared to the standard approach in a diagnostic reference laboratory setting. METHODS: A multi-gene NGS panel was used to test a total of 91 probands, previously classified as non-informative by analysing the high-risk genes defined in our guidelines. RESULTS: Nineteen deleterious mutations were detected in 16% of patients, some mutations were found in already-tested high-risk genes (BRCA1, BRCA2, MSH2) and others in non-prevalent genes (RAD51D, PALB2, ATM, TP53, MUTYH, BRIP1). CONCLUSIONS: Overall, our findings reclassify several index cases into different HCS, and change the mutational status of 14 cases from non-informative to gene mutation carriers. In conclusion, we highlight the necessity of incorporating validated multi-gene NGS panels into the HCSs diagnostic routine to increase the performance of genetic diagnosis.

Factores asociados al pie diabético en pacientes ambulatorios. Centro de Diabetes Cardiovascular del Caribe. Barranquilla (Colombia) / Factors associated with diabetic foot outpatients. Cardiovascular Diabetes Center of the Caribbean Barranquilla (Colombia)

Objetivos: Establecer los factores asociados a la presencia de pie diabético en pacientes atendidos en el Centro de Diabetes Cardiovascular del Caribe en Barranquilla (Atlántico, Colombia), en el periodo julio-octubre de 2009. Materiales y métodos: Estudio analítico de casos y controles. Se tomó como muestra a 200 pacientes, entre hombres y mujeres, atendidos en el Centro de Diabetes Cardiovascular del Caribe; 100 de ellos eran pacientes con pie diabético y otros 100 con diabetes sin la presencia de pie diabético. Se aplicó una encuesta de 27 preguntas a cada uno de ellos para determinar los factores relacionados con la aparición de pie diabético. La tabulación y análisis de los datos se hizo de manera computarizada, utilizando el software Epi Info versión 6.04d y el paquete Microsoft Office 2003. Resultados: La macroangiopatía y la microangiopatía fueron importantes en la presencia del pie diabético (OR = 44.33; p = 0.000 y OR = 13.62; p = 0.00 respectivamente), la neuropatía (OR = 10.14; p = 0.00) y la deformidad de los pies (OR = 10.02; p = 0.00) se asociaron significativamente al pie diabético. Se encontró como factor protector el autocuidado (OR = 0.21; p = 0.00000) y la educación relacionada con el control de factores de riesgo para la diabetes (OR = 0.32; p = 0.00007). Conclusión: La macroangiopatía, la microangiopatía, la neuropatía y la deformidad en los pies se comportaron como factores asociados a la presencia del pie diabético. El autocuidado contribuyó a la prevención del mismo.

Objective: To establish the factors associated with the presence of diabetic foot in patients treated at the Centro de Diabetes Cardiovascular del Caribe in Barranquilla (Atlántico), July-October 2009. Materials and methods: Analytical study of cases and controls. It was taken as a sample 200 patients, men and women, treated at the Centro de Diabetes Cardiovascular del Caribe in Barranquilla; 100 with presence of diabetes food, and 100 without of presence of diabetic foot; A twenty-seven question survey was done to each patient; whose objective was to determine the factor related to diabetic foot. The tabulation and analysis of data were computed using the software Epi Info version 6.04d and the Microsoft Office 2003 package. Results: The macroangiopaty and the microangiopaty were important in diabetic foot presence (OR = 44.33; p = 0.000 y OR = 13.62; p = 0.00 respective), the neuropathy (OR = 10.14; p = 0.00) and the foot deformity (OR = 10.02; p= 0.00) were associated significantly. Self-care was found to be a protective factor (OR = 0.21; p = 0.00). Conclusions: The macroangiopaty, the microangiopaty, the neuropathy and the feet deformity were considered as associated factors to the presence of diabetic foot disease. Self-care contributed to the prevention of the disease.

Analysis of monoamine oxidase enzymatic activity by reversed-phase high performance liquid chromatography and inhibition by beta-carboline alkaloids occurring in foods and plants.

Monoamine oxidase (MAO) is a flavin adenine dinucleotide (FAD)-containing enzyme located at the outer membranes of mitochondria that catalyzes the oxidative deamination of biogenic and xenobiotic amines. We have used a chromatographic method to measure MAO-enzymatic activity by using kynuramine as a non-selective substrate with its MAO-oxidation product subsequently analyzed by RP-HPLC-DAD and HPLC-mass spectrometry (MS). This method was applied to study the kinetic parameters, inhibition and reaction products of MAO recombinant enzymes in presence of tetrahydro-beta-carboline and beta-carboline alkaloids occurring in foods, plants and mammals. Analysis by HPLC showed that tetrahydro-beta-carbolines or beta-carbolines were not modified by MAO. Several beta-carbolines such as tryptoline (1,2,3,4-tetrahydro-beta-carboline) and 1-methyltryptoline (1-methyl-1,2,3,4-tetrahydro-beta-carboline) were inhibitors of MAO-A; instead their corresponding 6-hydroxy-derivatives (6-hydroxytryptoline and 6-hydroxy-1-methyltryptoline) lacked this activity. Tetrahydro-beta-carboline-3-carboxylic acids were unable to inhibit MAO enzymes. In contrast, their oxidation products, i.e. the fully aromatic beta-carbolines (norharman and harman), acted as good inhibitors of MAO. Two tetrahydro-beta-carbolines (i.e. tryptoline and 1-methyltryptoline) occurring in foods were isolated by solid-phase extraction (SPE) and RP-HPLC from selected samples of sausages and the corresponding extracts exhibited good inhibition properties over MAO-A. These results suggest that beta-carbolines from foods, plants, and mammals may exert inhibitory actions on MAO enzymes.

Human monoamine oxidase enzyme inhibition by coffee and beta-carbolines norharman and harman isolated from coffee.

Monoamine oxidase (MAO) is a mitochondrial outer-membrane flavoenzyme involved in brain and peripheral oxidative catabolism of neurotransmitters and xenobiotic amines, including neurotoxic amines, and a well-known target for antidepressant and neuroprotective drugs. Recent epidemiological studies have consistently shown that coffee drinkers have an apparently lower incidence of Parkinson's disease (PD), suggesting that coffee might somehow act as a purported neuroprotectant. In this paper, "ready to drink" coffee brews exhibited inhibitory properties on recombinant human MAO A and B isozymes catalyzing the oxidative deamination of kynuramine, suggesting that coffee contains compounds acting as MAO inhibitors. MAO inhibition was reversible and competitive for MAO A and MAO B. Subsequently, the pyrido-indole (beta-carboline) alkaloids, norharman and harman, were identified and isolated from MAO-inhibiting coffee, and were good inhibitors on MAO A (harman and norharman) and MAO B (norharman) isozymes. beta-carbolines isolated from ready-to-drink coffee were competitive and reversible inhibitors and appeared up to 210 microg/L, confirming that coffee is the most important exogenous source of these alkaloids in addition to cigarette smoking. Inhibition of MAO enzymes by coffee and the presence of MAO inhibitors that are also neuroactive, such as beta-carbolines and eventually others, might play a role in the neuroactive actions including a purported neuroprotection associated with coffee consumption.

Human monoamine oxidase is inhibited by tobacco smoke: beta-carboline alkaloids act as potent and reversible inhibitors.

Monoamine oxidase (MAO) is a mitochondrial outer-membrane flavoenzyme involved in brain and peripheral oxidative catabolism of neurotransmitters and xenobiotic amines, including neurotoxic amines, and a well-known target for antidepressant and neuroprotective drugs. Recently, positron emission tomography imaging has shown that smokers have a much lower activity of peripheral and brain MAO-A (30%) and -B (40%) isozymes compared to non-smokers. This MAO inhibition results from a pharmacological effect of smoke, but little is known about its mechanism. Working with mainstream smoke collected from commercial cigarettes we confirmed that cigarette smoke is a potent inhibitor of human MAO-A and -B isozymes. MAO inhibition was partly reversible, competitive for MAO-A, and a mixed-type inhibition for MAO-B. Two beta-carboline alkaloids, norharman (beta-carboline) and harman (1-methyl-beta-carboline), were identified by GC-MS, quantified, and isolated from the mainstream smoke by solid phase extraction and HPLC. Kinetics analysis revealed that beta-carbolines from cigarette smoke were competitive, reversible, and potent inhibitors of MAO enzymes. Norharman was an inhibitor of MAO-A (K(i)=1.2+/-0.18 microM) and MAO-B (K(i)=1.12+/-0.19 microM), and harman of MAO-A (K(i)=55.54+/-5.3nM). Beta-carboline alkaloids are psychopharmacologically active compounds that may occur endogenously in human tissues, including the brain. These results suggest that beta-carboline alkaloids from cigarette smoke acting as potent reversible inhibitors of MAO enzymes may contribute to the MAO-reduced activity produced by tobacco smoke in smokers. The presence of MAO inhibitors in smoke like beta-carbolines and others may help us to understand some of the purported neuropharmacological effects associated with smoking.