ABSTRACT
PURA, also known as Pur-alpha, is an evolutionarily conserved DNA/RNA-binding protein crucial for various cellular processes, including DNA replication, transcriptional regulation, and translational control. Comprising three PUR domains, it engages with nucleic acids and has a role in protein-protein interactions. The manifestation of PURA syndrome, arising from mutations in the PURA gene, presents neurologically with developmental delay, hypotonia, and seizures. In our prior work from 2018, we highlighted the unique case of a PURA patient displaying hypoglycorrhachia, suggesting a potential association with GLUT1 dysfunction in this syndrome. In this current study, we expand the patient cohort with PURA mutations exhibiting hypoglycorrhachia and aim to unravel the molecular basis of this phenomenon. We established an in vitro model in HeLa cells to modulate PURA expression and investigated GLUT1 function and expression. Our findings indicate that PURA levels directly impact glucose uptake through the functioning of GLUT1, without influencing significantly GLUT1 expression. Moreover, our study reveals evidence for a possible physical interaction between PURA and GLUT1, demonstrated by colocalization and co-immunoprecipitation of both proteins. Computational analyses, employing molecular dynamics, further corroborates these findings, demonstrating that PURA:GLUT1 interactions are plausible, and that the stability of the complex is altered when PURA is truncated and/or mutated. In conclusion, our results suggest that PURA plays a pivotal role in driving the function of GLUT1 for glucose uptake, potentially forming a regulatory complex. Additional investigations are warranted to elucidate the precise mechanisms governing this complex and its significance in ensuring proper GLUT1 function.
ABSTRACT
Niemann-Pick type C (NPC) is a disorder of the lysosomal metabolism due to biallelic pathogenic variants in NPC1 or NPC2. Intracellular deposit of lipids, mainly unesterified cholesterol, gives rise to oxidative damage in several tissues, mainly neurons, spleen and liver. This, in turn, is associated with a myriad of neurological / psychiatric and visceral symptoms, with wide variability in age of presentation, from prenatal / neonatal to adult-onset forms of the disease. The last few years have seen considerable progress in understanding this disease and its management. In this consensus, current approaches to the diagnosis, follow-up and treatment of NPC (including the use of miglustat, the only specific drug approved at the time) are discussed by an Argentinian panel of experts.
La enfermedad de Niemann-Pick tipo C (NPC) es un trastorno del metabolismo lisosomal que se debe a la presencia de variantes patogénicas bialélicas en los genes NPC1 o NPC2. El depósito intracelular de lípidos, especialmente colesterol no esterificado, provoca daño oxidativo en diversos tejidos, especialmente neuronas, bazo e hígado. Esto, a su vez, induce la aparición de un conjunto de síntomas neurológicos / psiquiátricos y viscerales, con una amplia variabilidad de edad de aparición, desde formas prenatales / neonatales hasta otras de aparición en la vida adulta. En los últimos años ha habido avances considerables en la comprensión sobre esta enfermedad y su manejo. En el presente consenso un grupo de expertos argentinos abordan los enfoques actuales de diagnóstico, seguimiento y tratamiento de NPC, incluyendo el uso de miglustat como única terapia específica aprobada en la actualidad.
Subject(s)
Niemann-Pick Disease, Type C , Pick Disease of the Brain , Adult , Infant, Newborn , Humans , Niemann-Pick Disease, Type C/diagnosis , Niemann-Pick Disease, Type C/drug therapy , Niemann-Pick Disease, Type C/genetics , Consensus , CholesterolABSTRACT
Resumen La enfermedad de Niemann-Pick tipo C (NPC) es un trastorno del metabolismo lisosomal que se debe a la presencia de variantes patogénicas bialélicas en los genes NPC1 o NPC2. El depósito intracelular de lípidos, especialmente colesterol no esterificado, provoca daño oxidativo en diversos tejidos, especialmente neuronas, bazo e hígado. Esto, a su vez, induce la aparición de un conjunto de síntomas neurológicos/psiquiátricos y viscerales, con una amplia variabilidad de edad de apa rición, desde formas prenatales/neonatales hasta otras de aparición en la vida adulta. En los últimos años ha habido avances considerables en la comprensión sobre esta enfermedad y su manejo. En el presente consenso un grupo de expertos argentinos abordan los enfoques actuales de diagnóstico, seguimiento y tratamiento de NPC, incluyendo el uso de miglustat como única terapia específica aprobada en la actualidad.
Abstract Niemann-Pick type C (NPC) is a disorder of the lyso somal metabolism due to biallelic pathogenic variants in NPC1 or NPC2. Intracellular deposit of lipids, mainly unesterified cholesterol, gives rise to oxidative damage in several tissues, mainly neurons, spleen and liver. This, in turn, is associated with a myriad of neurologi cal/psychiatric and visceral symptoms, with wide vari ability in age of presentation, from prenatal/neonatal to adult-onset forms of the disease. The last few years have seen considerable progress in understanding this disease and its management. In this consensus, current approaches to the diagnosis, follow-up and treatment of NPC (including the use of miglustat, the only specific drug approved at the time) are discussed by an Argentin ian panel of experts.
ABSTRACT
The genetic and phenotypic heterogeneity of neurogenetic diseases forces patients and their families into a "diagnostic odyssey." An increase in the variability of genetic disorders and the corresponding gene-disease associations suggest the need to periodically re-evaluate the significance of variants of undetermined pathogenicity. Here, we report the diagnostic and clinical utility of Targeted Gene Panel Sequencing (TGPS) and Whole Exome Sequencing (WES) in 341 patients with suspected neurogenetic disorders from centers in Buenos Aires and Cincinnati over the last 4 years, focusing on the usefulness of reinterpreting variants previously classified as of uncertain significance. After a mean of ±2years (IC 95:0.73-3.27), approximately 30% of the variants of uncertain significance were reclassified as pathogenic. The use of next generation sequencing methods has facilitated the identification of both germline and mosaic pathogenic variants, expanding the diagnostic yield. These results demonstrate the high clinical impact of periodic reanalysis of undetermined variants in clinical neurology.
Subject(s)
High-Throughput Nucleotide Sequencing , Humans , Exome SequencingABSTRACT
La enfermedad de Pompe, o deficiencia de maltasa ácida o glucogenosis tipo II, es una grave enfermedad genética, autosómica recesiva, progresiva, poco frecuente, causada por la deficiencia en la enzima alfa glucosidasa. En la edad pediátrica, puede presentarse con la "forma clásica", la más conocida, con grave compromiso cardíaco y franca hipotonía, o con la "forma no clásica", con comienzo temprano del compromiso motor. La "forma de comienzo tardío" del adulto también puede ocurrir en la infancia o en la adolescencia. Se actualizan los hallazgos clínicos y de diagnóstico disponibles, ya que un tratamiento temprano con reemplazo de la enzima faltante puede mejorar la supervivencia y la calidad de vida del paciente. Se revisan los beneficios y los efectos adversos del tratamiento disponible y nuevas líneas de investigación terapéutica.
Pompe disease, also known as acid maltase deficiency or glycogenosis type II, is a rare severe, autosomal, recessive, and progressive genetic disorder caused by deficiency in alpha-glucosidase. The classic infantile-onset is the most broadly known form of Pompe disease, which presents with severe heart involvement and clear hypotonia, while the non-classic presentation occurs with early motor involvement. Late-onset Pompe disease develops in adults, but it may also occur during childhood or adolescence. Here we update the available clinical and diagnostic findings because an early management with enzyme replacement therapy may improve patients' survival and quality of life. We also review the benefits and adverse effects of available treatments and new lines of therapeutic research.
Subject(s)
Humans , Infant , Child, Preschool , Child , Glycogen Storage Disease Type II , Motor Disorders , Muscle Hypotonia , CardiomyopathiesABSTRACT
Pompe disease, also known as acid maltase deficiency or glycogenosis type II, is a rare severe, autosomal, recessive, and progressive genetic disorder caused by deficiency in alpha-glucosidase. The classic infantile-onset is the most broadly known form of Pompe disease, which presents with severe heart involvement and clear hypotonia, while the non-classic presentation occurs with early motor involvement. Late-onset Pompe disease develops in adults, but it may also occur during childhood or adolescence. Here we update the available clinical and diagnostic findings because an early management with enzyme replacement therapy may improve patients' survival and quality of life. We also review the benefits and adverse effects of available treatments and new lines of therapeutic research.
La enfermedad de Pompe, o deficiencia de maltasa ácida o glucogenosis tipo II, es una grave enfermedad genética, autosómica recesiva, progresiva, poco frecuente, causada por la deficiencia en la enzima alfa glucosidasa. En la edad pediátrica, puede presentarse con la "forma clásica", la más conocida, con grave compromiso cardíaco y franca hipotonía, o con la "forma no clásica", con comienzo temprano del compromiso motor. La "forma de comienzo tardío" del adulto también puede ocurrir en la infancia o en la adolescencia. Se actualizan los hallazgos clínicos y de diagnóstico disponibles, ya que un tratamiento temprano con reemplazo de la enzima faltante puede mejorar la supervivencia y la calidad de vida del paciente. Se revisan los beneficios y los efectos adversos del tratamiento disponible y nuevas líneas de investigación terapéutica.
Subject(s)
Glycogen Storage Disease Type II/diagnosis , Glycogen Storage Disease Type II/therapy , Adolescent , Child , Child, Preschool , Glycogen Storage Disease Type II/complications , Humans , Infant , Treatment OutcomeABSTRACT
Introducción: Las estereotipias han sido descritas en niños con trastornos del desarrollo pero su prevalencia y características en niños con desarrollo madurativo normal no es conocida. Objetivo: Estimar la prevalencia de estereotipias en niños sin enfermedades crónicas y describir sus características clínicas y epidemiológicas Pacientes y Métodos: Estudio de corte transversal. Se aplicó una encuesta a madres de niños recién nacidos hasta niños de 12 años que concurrieron a los consultorios externos con muestreo consecutivo y no aleatori-zado. La encuesta fue analizada previamente en un subgrupo de madres. Resultados: Se completaron 406 encuestas, en el 57 por ciento se refirieron estereotipias y las más frecuentes fueron chuparse los dedos (21,8 por ciento) y comerse las uñas (20 por ciento). El análisis multivariado identificó mayor probabilidad de presentar estereotipias en niños con antecedentes de esterotipia en los padres, situaciones de estrés y madres mayores de 35 años. Conclusión: Las estereotipias tienen una elevada prevalencia en los niños y son más frecuentes en niños con antecedentes familiares de estereotipias, situaciones de estrés y en niños con madres de mayor edad.
Background: Stereotypies have been described in children with developmental disorders but their prevalence and characteristics in developmentally normal children is unknown. Objective: To estimate the prevalence of stereotypies in children without chronic diseases and describe their clinical and epidemiological characteristics. Patients and Methods: A Cross-sectional study was performed. Mothers of children aged from birth to 12 years, who attended the outpatient clinic, answered survey questions. Results: 406 surveys were completed; stereotypies were observed in 57 percent of patients, among the most frequent, finger sucking (21.8 percent) and nail biting (20 percent). A multivariate analysis identified that stereotypies are more likely in children with a history of stereotypy in parents, under stressful environments, and with mothers over 35 years old. Conclusion: Stereo-typies showed a high prevalence in this study, most frequently in those children under stressful environments, mothers older than 35 years, and affected parents.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Stereotyped Behavior , Stereotypic Movement Disorder/epidemiology , Age and Sex Distribution , Analysis of Variance , Cross-Sectional Studies , Developmental Disabilities/epidemiology , Fingersucking , Nail Biting , Prevalence , Surveys and QuestionnairesABSTRACT
LCHAD deficiency is a disorder of fatty acid beta oxidation. The most common clinical presentation includes disorders of consciousness, hypoglycemia and liver dysfunction triggered by prolonged fasting or infection. Once a metabolic crisis is triggered, there is a high mortality. HELLP syndrome and acute fatty liver failure of pregnancy (AFLP) are disorders of the third trimester of pregnancy. These diseases have been associated during pregnancy with hereditary defects of beta-oxidation in the fetus. We report a case of beta-oxidation disorder (LCHAD deficiency) associated with maternal HELLP. We described a peak of lipid and lactic on magnetic resonance spectroscopic of this patient. The investigation of these beta-oxidation disorders at birth, with a history of maternal HELLP, allows the diagnosis of the disease prior to developing symptoms.
Subject(s)
3-Hydroxyacyl CoA Dehydrogenases/deficiency , HELLP Syndrome , Metabolism, Inborn Errors/diagnosis , 3-Hydroxyacyl CoA Dehydrogenases/genetics , 3-Hydroxyacyl CoA Dehydrogenases/metabolism , Female , Humans , Infant , Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase , Magnetic Resonance Spectroscopy , Male , Metabolism, Inborn Errors/genetics , Metabolism, Inborn Errors/metabolism , PregnancyABSTRACT
La deficiencia de 3-hidroxiacil coA deshidrogenasa de cadena larga (LCHAD) es uno de los trastornos de la betaoxidación de ácidos grasos. La presentación clínica más frecuente incluye trastornos de conciencia, hipoglucemia y disfunción hepática gatillados por ayuno prolongado o infecciones. Una vez desencadenada, la crisis metabólica presenta alta mortalidad. El síndrome HELLP y la hepatitis grasa aguda del embarazo (AFLP) son trastornos del tercer trimestre del embarazo. Se ha asociado estas enfermedades durante la gestación con defectos hereditarios de la betaoxidación en el feto. Comunicamos el caso clínico de un trastorno de beta oxidación (deficiencia de LCHAD) asociado a HELLP materno. Describimos como hallazgos en la resonancia magnética espectroscópica un pico de ácido láctico y lípidos significativo. La pesquisa de estos trastornos de la betaoxidación al nacimiento, ante el antecedente de HELLP materno, permite el diagnóstico de la enfermedad previo al desarrollo de los síntomas.
LCHAD deficiency is a disorder of fatty acid beta oxidation. The most common clinical presentation includes disorders of consciousness, hypoglycemia and liver dysfunction triggered by prolonged fasting or infection. Once a metabolic crisis is triggered, there is a high mortality. HELLP syndrome and acute fatty liver failure of pregnancy (AFLP) are disorders of the third trimester of pregnancy. These diseases have been associated during pregnancy with hereditary defects of beta-oxidation in the fetus. We report a case of beta-oxidation disorder (LCHAD deficiency) associated with maternal HELLP. We described a peak of lipid and lactic on magnetic resonance spectroscopic of this patient. The investigation of these beta-oxidation disorders at birth, with a history of maternal HELLP, allows the diagnosis of the disease prior to developing symptoms.
Subject(s)
Female , Humans , Infant , Male , Pregnancy , /deficiency , HELLP Syndrome , Metabolism, Inborn Errors/diagnosis , /genetics , /metabolism , Magnetic Resonance Spectroscopy , Metabolism, Inborn Errors/genetics , Metabolism, Inborn Errors/metabolismABSTRACT
La deficiencia de 3-hidroxiacil coA deshidrogenasa de cadena larga (LCHAD) es uno de los trastornos de la betaoxidación de ácidos grasos. La presentación clínica más frecuente incluye trastornos de conciencia, hipoglucemia y disfunción hepática gatillados por ayuno prolongado o infecciones. Una vez desencadenada, la crisis metabólica presenta alta mortalidad. El síndrome HELLP y la hepatitis grasa aguda del embarazo (AFLP) son trastornos del tercer trimestre del embarazo. Se ha asociado estas enfermedades durante la gestación con defectos hereditarios de la betaoxidación en el feto. Comunicamos el caso clínico de un trastorno de beta oxidación (deficiencia de LCHAD) asociado a HELLP materno. Describimos como hallazgos en la resonancia magnética espectroscópica un pico de ácido láctico y lípidos significativo. La pesquisa de estos trastornos de la betaoxidación al nacimiento, ante el antecedente de HELLP materno, permite el diagnóstico de la enfermedad previo al desarrollo de los síntomas.(AU)
LCHAD deficiency is a disorder of fatty acid beta oxidation. The most common clinical presentation includes disorders of consciousness, hypoglycemia and liver dysfunction triggered by prolonged fasting or infection. Once a metabolic crisis is triggered, there is a high mortality. HELLP syndrome and acute fatty liver failure of pregnancy (AFLP) are disorders of the third trimester of pregnancy. These diseases have been associated during pregnancy with hereditary defects of beta-oxidation in the fetus. We report a case of beta-oxidation disorder (LCHAD deficiency) associated with maternal HELLP. We described a peak of lipid and lactic on magnetic resonance spectroscopic of this patient. The investigation of these beta-oxidation disorders at birth, with a history of maternal HELLP, allows the diagnosis of the disease prior to developing symptoms.(AU)
Subject(s)
Female , Humans , Infant , Male , Pregnancy , 3-Hydroxyacyl CoA Dehydrogenases/deficiency , HELLP Syndrome , Metabolism, Inborn Errors/diagnosis , 3-Hydroxyacyl CoA Dehydrogenases/genetics , 3-Hydroxyacyl CoA Dehydrogenases/metabolism , Magnetic Resonance Spectroscopy , Metabolism, Inborn Errors/genetics , Metabolism, Inborn Errors/metabolismABSTRACT
Introducción. El estado de mal epiléptico superrefractario es aquel que persiste a pesar del tratamiento adecuado con múltiples esquemas anticonvulsionantes que incluyan coma prolongado con anestésicos generales. Se han propuesto diferentes esquemas de tratamiento farmacológico en estos pacientes, entre los cuales se incluye la dieta cetogénica. Pacientes y métodos. Análisis retrospectivo de cinco historias clínicas de niños entre 1 y 14 años de edad, tres de ellos con diagnóstico de FIRES (febrile infection-related epilepsy syndrome) y dos con diagnóstico de epilepsia parcial sintomática refractaria. La mediana de edad fue 6 años y la media de duración del estado de mal epiléptico de 32 días. Resultados. Todos los pacientes recibieron múltiples esquemas terapéuticos, y en todos se obtuvo coma farmacológico con barbitúricos hasta alcanzar patrón de paroxismo-supresión en el electroencefalograma. Ante el fracaso de éstos, se indicó dieta cetogénica clásica. Cuatro pacientes, después de iniciada la dieta cetogénica, mostraron cese del estado de mal epiléptico clínico y electroencefalográfico, con buena tolerancia. Un paciente no presentó respuesta y falleció. Conclusiones. En pacientes con estado de mal epiléptico superrefractario, ante el fracaso de diferentes esquemas anticonvulsionantes, la dieta cetogénica sería una opción válida. La dieta cetogénica en esta situación clínica grave es altamente efectiva y segura (AU)
Introduction. Super-refractory status epilepticus is that which persists despite suitable treatment with multiple anticonvulsive schemes, including prolonged coma with general anaesthetic. Different pharmacological treatment schemes have been proposed in these patients, including the use of a ketogenic diet. Patients and methods. This study is a retrospective analysis of five patient records of children between 1 and 14 years of age, three of whom were diagnosed with FIRES (febrile infection-related epilepsy syndrome) and two with a diagnosis of refractory symptomatic partial epilepsy. The mean age was six years and the mean duration of the status epilepticus was 32 days. Results. All the patients were given multiple therapeutic schemes; in all was obtained pharmacological coma with barbiturates to reach paroxysm-suppression pattern on electroencephalogram. Since the results of these strategies were not successful, a classical ketogenic diet was indicated. After starting the ketogenic diet, the clinical and electroencephalographic status epilepticus ceased in four patients with good tolerance. One patient did not respond and died. Conclusions. In patients with super-refractory status epilepticus, when different anticonvulsive schemes are unsuccessful, the ketogenic diet would be a good option. The ketogenic diet in this severe clinical situation is highly effective and safe (AU)
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Status Epilepticus/diet therapy , Diet, Ketogenic , Retrospective Studies , Anticonvulsants/therapeutic useABSTRACT
INTRODUCTION: Super-refractory status epilepticus is that which persists despite suitable treatment with multiple anti-convulsive schemes, including prolonged coma with general anaesthetic. Different pharmacological treatment schemes have been proposed in these patients, including the use of a ketogenic diet. PATIENTS AND METHODS: This study is a retrospective analysis of five patient records of children between 1 and 14 years of age, three of whom were diagnosed with FIRES (febrile infection-related epilepsy syndrome) and two with a diagnosis of refractory symptomatic partial epilepsy. The mean age was six years and the mean duration of the status epilepticus was 32 days. RESULTS: All the patients were given multiple therapeutic schemes; in all was obtained pharmacological coma with barbiturates to reach paroxysm-suppression pattern on electroencephalogram. Since the results of these strategies were not successful, a classical ketogenic diet was indicated. After starting the ketogenic diet, the clinical and electroencephalographic status epilepticus ceased in four patients with good tolerance. One patient did not respond and died. CONCLUSIONS: In patients with super-refractory status epilepticus, when different anticonvulsive schemes are unsuccessful, the ketogenic diet would be a good option. The ketogenic diet in this severe clinical situation is highly effective and safe.
Subject(s)
Diet, Ketogenic , Status Epilepticus/diet therapy , Adolescent , Anticonvulsants/therapeutic use , Arnold-Chiari Malformation/complications , Child , Child, Preschool , Drug Resistance , Epilepsies, Partial/complications , Epilepsies, Partial/drug therapy , Fasting , Female , Humans , Infant , Male , Retrospective Studies , Seizures, Febrile/complications , Seizures, Febrile/drug therapy , Status Epilepticus/etiology , Treatment OutcomeABSTRACT
PURPOSE: In this Argentinean retrospective, collaborative, multicenter study, we examine the efficacy and tolerability of the ketogenic diet (KD) for different epilepsy syndromes. MATERIALS AND METHODS: we evaluated the clinical records of 216 patients started on the KD between March 1, 1990 and December 31, 2010. RESULTS: One hundred forty of the initial patients (65%) remained on the diet at the end of the study period. Twenty-nine patients (20.5%) became seizure free and 50 children (36%) had a 75-99% decrease in seizures. Thus, 56.5% of the patients had a seizure control of more than 75%. The best results were found in patients with epilepsy with myoclonic-astatic seizures, Lennox-Gastaut syndrome, and West syndrome. Good results were also found in patients with Dravet syndrome, in those with symptomatic focal epilepsy secondary to malformations of cortical development, and in patients with tuberous sclerosis. Seizures were significantly reduced in four patients with fever-induced refractory epileptic encephalopathy in school-age children and in two patients with epileptic encephalopathy with continuous spikes and waves during slow sleep. The median period of follow-up after discontinuation of the diet was 6 years. Twenty patients who had become seizure free discontinued the diet, but seizures recurred in five (25%). Of 40 patients with a seizure reduction of more than 50% who discontinued the diet, 10 presented with recurrent seizures. CONCLUSION: The ketogenic diet is a good option in the treatment of refractory epilepsy. After discontinuing the diet, seizures recurrence occurred in few patients.
Subject(s)
Diet, Ketogenic/trends , Epilepsy/diet therapy , Epilepsy/epidemiology , Adolescent , Argentina/epidemiology , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Male , Retrospective Studies , Time FactorsABSTRACT
Epilepsia partialis continua is defined as a spontaneous regular or irregular clonic muscular twitching affecting a limited part of the body, occurring for a minimum of 1 hour and recurring at intervals of less than 10 seconds. Levamisole is used as an immunomodulating medication in patients with recurrent aphthous ulcers. Evidence suggests that it can induce multifocal inflammatory leukoencephalopathy. We describe the clinical neuroimaging and ictal electroencephalographic findings in an adolescent with epilepsia partialis continua caused by the administration of levamisole with cortical and subcortical lesions. To our knowledge, this is the first report that describes the association of epilepsia partialis continua cortical lesions detected by magnetic resonance imaging and levamisole that were not previously described.
Subject(s)
Adjuvants, Immunologic/adverse effects , Epilepsia Partialis Continua/chemically induced , Levamisole/adverse effects , Adolescent , Epilepsia Partialis Continua/diagnosis , Epilepsia Partialis Continua/drug therapy , Female , Frontal Lobe/drug effects , Frontal Lobe/pathology , Humans , Magnetic Resonance Imaging , Stomatitis, Aphthous/drug therapyABSTRACT
Objetivo. Evaluar la preferencia de las familias porla vestimenta del pediatra en la consulta ambulatoria en un hospital de la comunidad. Población, material y métodos. Se seleccionó a las familias que concurrieron a los consultorios externos para control en salud o consulta de demanda espontánea, durante cinco días hábiles consecutivos,de 9 a 20 h. Se excluyeron aquellos que consultaron en alguna especialidad pediátrica.A cada familia se le mostró una serie de cinco fotos de un médico en la misma posición y actitud, pero con diferente vestimenta. Junto con esto se les realizó una encuesta de ocho preguntas, llevada a cabo porun estudiante avanzado de la carrera de medicina. Se utilizaron dos series de fotografías, una de un hombre y otra de una mujer, con cambios de vestimenta equivalentes (ambo de guardia, ropa formalcon guardapolvo y sin él, ropa informal con guardapolvoy sin él). La aleatorización de la serie de fotografías masculinas o femeninas se determinó por el número de admisión. En las encuestas se preguntó qué médico pediatra elegirían, tanto las familias como los niños mayores de 6 años, en forma independiente. También se preguntó qué médico no elegirían y si la vestimenta del pediatra les parecería un factor importante ensu elección. Para el análisis de los datos, se confeccionó una base de datos con el programa stata 6.0. Resultados. Se efectuaron 355 encuestas, el 49,5% delas familias recibió la serie de fotografías femeninas,mientras que el 50,5% restante, la serie masculina.El 82% de los padres eligió una vestimenta que seidentifica con la atención de la salud (ambo o guardapolvo),al igual que el 79% de los niños.En la elección del pediatra, el 50% de los padres refirieron que la vestimenta era muy importante o moderadamente importante, mientras que el 50% restante opinó que era poco o nada importante.
Subject(s)
Child , Adult , Choice Behavior , Data Collection , Nonverbal Communication , Physician-Patient Relations , Quality Indicators, Health CareABSTRACT
Objetivo. Evaluar la preferencia de las familias porla vestimenta del pediatra en la consulta ambulatoria en un hospital de la comunidad. Población, material y métodos. Se seleccionó a las familias que concurrieron a los consultorios externos para control en salud o consulta de demanda espontánea, durante cinco días hábiles consecutivos,de 9 a 20 h. Se excluyeron aquellos que consultaron en alguna especialidad pediátrica.A cada familia se le mostró una serie de cinco fotos de un médico en la misma posición y actitud, pero con diferente vestimenta. Junto con esto se les realizó una encuesta de ocho preguntas, llevada a cabo porun estudiante avanzado de la carrera de medicina. Se utilizaron dos series de fotografías, una de un hombre y otra de una mujer, con cambios de vestimenta equivalentes (ambo de guardia, ropa formalcon guardapolvo y sin él, ropa informal con guardapolvoy sin él). La aleatorización de la serie de fotografías masculinas o femeninas se determinó por el número de admisión. En las encuestas se preguntó qué médico pediatra elegirían, tanto las familias como los niños mayores de 6 años, en forma independiente. También se preguntó qué médico no elegirían y si la vestimenta del pediatra les parecería un factor importante ensu elección. Para el análisis de los datos, se confeccionó una base de datos con el programa stata 6.0. Resultados. Se efectuaron 355 encuestas, el 49,5% delas familias recibió la serie de fotografías femeninas,mientras que el 50,5% restante, la serie masculina.El 82% de los padres eligió una vestimenta que seidentifica con la atención de la salud (ambo o guardapolvo),al igual que el 79% de los niños.En la elección del pediatra, el 50% de los padres refirieron que la vestimenta era muy importante o moderadamente importante, mientras que el 50% restante opinó que era poco o nada importante.(AU)
