ABSTRACT
Los errores innatos del metabolismo comprenden un amplio grupo de patologías, habitualmente con una alta morbimortalidad. Son poco conocidas por parte de la comunidad médica debido a su baja prevalencia, y las dificultades en su diagnóstico y tratamiento hacen que sea imprescindible su manejo en Unidades especializadas. La Unidad de Enfermedades Metabólicas del Hospital Ramón y Cajal fue pionera en el estudio de estos pacientes, y es hoy un referente ¡mundial en la asistencia e investigación en este campo (AU)
Inborn errors of metabolism are an extensive group of diseases that usually have high morbility and mortality. They are little known within the medical community due to their low prevalence, which coupled with the difficulties in their diagnosis and treatment make it indispensable for them to be handled in specialized units. The Metabolic Department of the Ramón y Cajal was a pioneer in the study of these patients and is nowadavs a worldwide recognized center in the treatment and investigation in this field (AU)
Subject(s)
Humans , Male , Female , Child , Metabolic Diseases/epidemiology , Metabolic Diseases/prevention & control , Commission on Professional and Hospital Activities/standards , Lipid Metabolism, Inborn Errors/epidemiology , Metabolism, Inborn Errors/epidemiology , Phenylketonurias/complications , Phenylketonurias/epidemiology , Hypoglycemia/epidemiology , Hyperammonemia/epidemiology , Hospital Units/organization & administration , Hospital Units/standards , Needs Assessment/organization & administrationABSTRACT
El síndrome de la orina morada en bolsa es una entidad poco frecuente que afecta característicamente a mujeres de edad avanzada con sondaje vesical prolongado y debilitadas por enfermedades crónicas. La presencia de patología urológica previa, el encamamiento prolongado y el estreñimiento crónico son factores predisponentes. El color morado de la orina se debe a la presencia de elevadas concentraciones de bacterias con actividad indoxilsulfatasa/fosfatasa que se desarrollan en un ambiente alcalino en presencia de otros factores. En el caso que presentamos la administración de suplementos nutricionales ricos en triptófano tuvieron un papel relevante en la generación de este síndrome (AU)
The purple urine bag syndrome is a rare entity which typically affects elderly women with prolonged urinary catheterization and weakening chronic diseases. Other predisposing factors are previous urologic pathology, immobility syndrome and chronic constipation. The purple color is due to the presence of high loads of bacteria with sulphatase - phosphatase activity which develop in an alkaline environment as well as the presence of other factors. In the case we present the administration of nutritional supplements containing tryptophan conditioned the generation of this syndrome (AU)
Subject(s)
Humans , Female , Aged , Urinary Catheterization/adverse effects , Urinary Diversion/adverse effects , Malnutrition/complications , Tryptophan/therapeutic use , Risk FactorsABSTRACT
La Fenilalanina Hidroxilasa (PAH) hidroxila a nivel hepático la fenilalanina proveniente de la dieta. Los fetos dependen para la hidroxilación de fenilalanina de la función materna, ya que por inmadurez fetal esta función no se adquiere hasta la semana 26. Los pacientes con deficiencia de PAH (Fenilcetonuria, PKU) no hidroxilan adecuadamente la fenilalanina de la dieta por lo que sus niveles en sangre estan elevados. Los niveles de fenilalaninemia se consideran teratogénicos y neurotóxicos por encima de 360 umol/L (N < 120). Las mujeres PKU embarazadas deberán seguir estrictamente un tratamiento dietético y/o farmacológico para mantener niveles de fenilalaninemia < 180 umol/L y evitar las posibles complicaciones teratogénicas en el feto (Sindrome Fetal de Hiperfenilalaninemia Materna), como el caso que presentamos. Recomendamos descartar Fenilcetonuria en mujeres en quienes no se haya realizado un despistaje neonatal y/o tengan abortos, hijos con microcefalia, cardiopatía o malformaciones renales (AU)
The phenylalanine hydroxylase (PAH) in the liver hydroxylates phenylalanine from the diet. Fetuses depend for the hydroxylation of phenylalanine the maternal metabolism , fetal maturity does not come until week 26. Though the women with PAH deficiency (phenylketonuria, PKU) not adequately hydroxylate phenylalanine diet so their blood levels are high. Fenilalaninemia levels are considered neurotoxic teratogenic and above 360 umol/L (N < 120). Pregnant women should strictly follow PKU dietary treatment and/or drug to maintain levels of fenilalaninemia < 180 umol/L and avoid the teratogenic complications in the fetus (Hyperphenylalaninaemias Maternal Fetal Syndrome), as the case presented. We recommend discarding Phenylketonuria in women who have not been done a neonatal screening and/or have abortions, children with microcephaly, cardiac or renal malformations (AU)
Subject(s)
Humans , Female , Pregnancy , Adult , Phenylketonuria, Maternal/diet therapy , Congenital Abnormalities/prevention & control , Early Diagnosis , Risk Factors , Neonatal ScreeningABSTRACT
The purple urine bag syndrome is a rare entity which typically affects elderly women with prolonged urinary catheterization and weakening chronic diseases. Other predisposing factors are previous urologic pathology, immobility syndrome and chronic constipation. The purple color is due to the presence of high loads of bacteria with sulphatase--phosphatase activity which develop in an alkaline environment as well as the presence of other factors. In the case we present the administration of nutritional supplements containing tryptophan conditioned the generation of this syndrome.
Subject(s)
Dietary Supplements/adverse effects , Tryptophan/adverse effects , Urinary Catheterization/adverse effects , Urologic Diseases/etiology , Urologic Diseases/urine , Aged , Anti-Bacterial Agents/therapeutic use , Ciprofloxacin/therapeutic use , Female , HumansABSTRACT
The phenylalanine hydroxylase (PAH) in the liver hydroxylates phenylalanine from the diet. Fetuses depend for the hydroxylation of phenylalanine the maternal metabolism , fetal maturity does not come until week 26. Though the women with PAH deficiency (phenylketonuria, PKU) not adequately hydroxylate phenylalanine diet so their blood levels are high. Fenilalaninemia levels are considered neurotoxic teratogenic and above 360 umol/L (N < 120). Pregnant women should strictly follow PKU dietary treatment and/or drug to maintain levels of fenilalaninemia < 180 umol/L and avoid the teratogenic complications in the fetus (Hyperphenylalaninaemias Maternal Fetal Syndrome), as the case presented. We recommend discarding Phenylketonuria in women who have not been done a neonatal screening and/or have abortions, children with microcephaly, cardiac or renal malformations.
Subject(s)
Phenylalanine/metabolism , Phenylketonurias/diet therapy , Phenylketonurias/diagnosis , Adult , Biopterins/analogs & derivatives , Biopterins/blood , Congenital Abnormalities/etiology , Congenital Abnormalities/prevention & control , Female , Humans , Infant, Newborn , Phenylalanine Hydroxylase/metabolism , Pregnancy , Pregnancy OutcomeABSTRACT
OBJECTIVE: To evaluate the effectiveness of PRECEDE model for health education, in the metabolic control and the reduction of cardiovascular risk factors, in type 2 diabetic patients followed for over two years in primary health care services. MATERIALS AND METHODS: PRECEDE model for health education was used in 318 patients with type 2 diabetes, from five primary health care centres. The study was conducted during two years of monitoring. RESULTS: After two years of follow-up was observed decrease in diastolic and systolic pressures (p < 0.05), as well as in levels of total cholesterol and LDL-cholesterol (p < 0.05). Patients with good metabolic control (glycated hemoglobin A1c < 7% and LDL cholesterol < 100 mg/dl), increased from 9.9% to 16.8% (p < 0,05). On the other hand, 27% of patients improved their level of therapeutic adherence, and there was a decreased in the number of patients with microalbuminuria from 8.4% to 6.3% (p = 0.05). Finally, we found no differences in levels of glycated hemoglobin A1c, BMI and cardiovascular risk. Mortality after two years was 0.7%. DISCUSSION: PRECEDE model for health education is a useful method in the management of type 2 diabetes, that reduce the levels of blood pressure both systolic and diastolic, decrease the lipid levels, and improve the level of therapeutic adherence in type 2 diabetic patients, followed for two years.
Subject(s)
Cardiovascular Diseases/prevention & control , Diabetes Mellitus, Type 2/therapy , Health Education , Aged , Albuminuria/prevention & control , Alcohol Drinking/epidemiology , Cholesterol/blood , Cholesterol, LDL , Diabetes Mellitus, Type 2/blood , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/metabolism , Diastole , Exercise , Female , Follow-Up Studies , Glycated Hemoglobin/analysis , Humans , Male , Middle Aged , Patient Compliance , Risk Factors , Smoking/epidemiology , Systole , Time FactorsABSTRACT
Objetivo: Evaluar el modelo PRECEDE como educación diabetológica, a medio (un año) y largo plazo (dos años), valorando los cambios en el riesgo cardiovascular (RCV) y en los factores de riesgo cardiovasculares de mayor importancia en los pacientes con diabetes tipo 2 (hipertensión arterial, obesidad y lípidos), respecto a los valores iniciales previos a la intervención educativa. Material y métodos: La población a estudiar se compuso de un total de 318 pacientes diagnosticados de diabetes tipo 2, a los que se sometió a una educación diabetológica mediante el modelo PRECEDE. El estudio se llevó a cabo durante dos años de seguimiento. Resultados: Al final de los dos años de seguimiento se observó la disminución de la tensión arterial diastólica (TAD) y la tensión arterial sistólica (TAS) (p < 0,05), así como de los niveles de colesterol total y colesterol LDL (p < 0,05). Los pacientes con buen control metabólico global (hemoglobina glucosilada A1c (HbA1c) < 7% y colesterol LDL < 100 mg/dl), aumentaron del 9,9 al 16,8% (p < 0,05), y un 27% de los pacientes mejoraron el nivel de cumplimiento terapéutico. Por otro lado, disminuyó el número de pacientes con microalbuminuria del 8,4 al 6,3% (p = 0,05). No se encontraron diferencias en los niveles de HbA1c, el índice de masa corporal (IMC) y el RCV. La mortalidad a los dos años fue del 0,7%. Discusión: La educación diabetológica basada en el modelo PRECEDE es un método útil en el tratamiento integral del paciente con diabetes tipo 2, al contribuir a disminuir los niveles de la tensión arterial tanto sistólica como diastólica y mejorar el perfil lipídico y el diferencial positivo entre los pacientes que incrementan su nivel de cumplimiento terapéutico y el de los que lo empeoran (AU)
Objective. To evaluate the effectiveness of PRECEDE model for health education, in themetabolic control and the reduction of cardiovascular risk factors, in type 2 diabeticpatients followed for over two years in primary health care services.Materials and methods. PRECEDE model for health education was used in 318 patientswith type 2 diabetes, from fi ve primary health care centres. The study was conductedduring two years of monitoring.Results. After two years of follow-up was observed decrease in diastolic and systolicpressures (p < 0.05), as well as in levels of total cholesterol and LDL-cholesterol (p <0.05). Patients with good metabolic control (glycated hemoglobin A1c < 7% and LDLcholesterol < 100 mg/dl), increased from 9.9% to 16.8% (p < 0,05). On the other hand,27% of patients improved their level of therapeutic adherence, and there was a decreasedin the number of patients with microalbuminuria from 8.4% to 6.3% (p = 0.05). Finally, wefound no differences in levels of glycated hemoglobin A1c, BMI and cardiovascular risk.Mortality after two years was 0.7%.Discussion. PRECEDE model for health education is a useful method in the managementof type 2 diabetes, that reduce the levels of blood pressure both systolic and diastolic,decrease the lipid levels, and improve the level of therapeutic adherence in type 2diabetic patients, followed for two years(AU)
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Health Education/methods , Health Education/trends , Risk Factors , Diabetes Mellitus, Type 2/complications , Cardiovascular Diseases/epidemiology , Cardiovascular Diseases/prevention & control , Cardiovascular Diseases/complications , Evaluation of Results of Preventive Actions/trends , Treatment Outcome , Prospective Studies , Longitudinal StudiesABSTRACT
INTRODUCTION: The prevalence of diabetes type 2 increases and increased in the next years. The pharmacology treatment of the diabetes type 2 is the oral antidiabetic oral drugs. The objective of our study is to know the existence and evolution of the poisonings by oral antidiabetics in Spain. We have studied the poisonings registered by oral antidiabetics in the National System of information toxicological, centre of national reference for acute poisonings in our country, during period 1991-2003. RESULTS: The total number of poisonings was of 309 subjects, being more frequent in women 52.9% versus 47.1% in men. The clinical poisonings were classified in asymptomatic 13.9%, low symptoms 49.5% moderate serious 31.3% serious 5.1%. The pharmacologic group with greater number of poisonings was of sulfonilurea 66.5%, within this group the glyburide one. In the last years poisonings with but of a drug appear appearing in the 2002 poisoning by triple therapy (sulfonilurea-metformin and alpha-glucosidase inhibitor). It is important to emphasize the absence of mortality and the modification of prescription increase of cases of metformin and diminution of alpha-glucosidase inhibitor. In our study we emphasized the greater one I number of poisonings in group of suckling babies and children with respect to the adults. Everything shows the importance of the correct prescription and use of the oral antidiabetics.
Subject(s)
Diabetes Mellitus, Type 2/drug therapy , Hypoglycemic Agents/poisoning , Administration, Oral , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Hypoglycemic Agents/administration & dosage , Infant , Male , Middle Aged , Poisoning/epidemiology , Spain , Time Factors , Young AdultABSTRACT
Introducción. La prevalencia de diabetes tipo 2aumenta y aumentará en los próximos años. El tratamiento farmacológico de la diabetes tipo 2 inicialmente son los antidiabéticos orales. El objetivo de nuestro estudio es conocer la existencia y evolución de las intoxicaciones por antidiabéticos orales en España, durante el período 1991-2003.Resultados. El número total de intoxicacionesfue de 309 sujetos, siendo más frecuentes en mujeres (52,9%) que en hombres (47,1%). Las intoxicaciones fueron clasificadas en asintomáticas el 13,9%, leves el 49,5%, moderadas el 31,3% y graves el 5,1%. El grupo farmacológico conmayor número de intoxicaciones fue el de lassulfonilureas 66,5%, y dentro de éste el grupo delas glibenclamidas. En los últimos años sepresentan intoxicaciones con más de un fármaco,presentándose en el año 2002 una intoxicación portriple terapia (sulfonilurea-biguanida y inhibidor dela alfa glucosidasa). Es importante destacar laausencia de mortalidad y la evolución de lasintoxicaciones, con un aumento del número decasos de metformina y disminución de losinhibidores de alfa-glucosidasa. En nuestro estudio,destacamos el mayor número de intoxicaciones enel grupo de lactantes y niños respecto a los adultos.Todo pone de manifiesto la importancia de uncentro de referencia para estudios epidemiológicos,la correcta prescripción y el riesgo cada vez mayordel colectivo de niños al aumentar la población dediabéticos, y con ella la prescripción de losantidiabéticos orales
Introduction. The prevalence of diabetes type 2increases and increased in the next years.The pharmacology treatment of the diabetestype 2 is the oral antidiabetic oral drugs. Theobjective of our study is to know the existence andevolution of the poisonings by oral antidiabeticsin Spain. We have studied the poisonings registeredby oral antidiabetics in the National System ofinformation toxicological, centre of nationalreference for acute poisonings in our country,during period 1991-2003.Results. The total number of poisonings was of309 subjects, being more frequent in women 52.9%versus 47.1% in men. The clinical poisonings wereclassified in asymptomatic 13.9%, low symptoms49.5% moderate serious 31.3% serious 5.1%. Thepharmacologic group with greater number ofpoisonings was of sulfonilurea 66.5%, within thisgroup the glyburide one. In the last years poisoningswith but of a drug appear appearing in the 2002poisoning by triple therapy (sulfonilurea-metforminand alpha-glucosidase inhibitor). It is important toemphasize the absence of mortality and themodification of prescription increase of casesof metformin and diminution of alpha-glucosidaseinhibitor. In our study we emphasized the greaterone I number of poisonings in group of sucklingbabies and children with respect to the adults.Everything shows the importance of the correctprescription and use of the oral antidiabetics
Subject(s)
Humans , Male , Female , Child , Adult , Hypoglycemic Agents/poisoning , Diabetes Mellitus, Type 2/drug therapy , Sulfonylurea Compounds/poisoning , Biguanides/poisoning , Glucosidases/antagonists & inhibitors , Sex Distribution , Age Distribution , Adverse Drug Reaction Reporting Systems/organization & administrationABSTRACT
El síncope es un trastorno frecuente que consiste en una breve pérdida de conciencia y del tono postural. Las causas son muy variadas e incluyen desde procesos triviales hasta otros muy graves que ponen en peligro la vida del paciente. Presentamos el caso clínico de un varón joven con síncopes recurrentes, en el que una detallada historia clínica y exploración física, y un electrocardiograma nos dieron el diagnóstico etiológico
Syncope is a frequent disorder that consists in a transient loss of consciousness and postural tone. The causes vary greatly and go from trivial conditions to other very serious ones that endanger the patient's life. We present the clinical case of a young male with recurrent syncopes, in which a detailed clinical history and physical examination and electrocardiogram revealed the etiological diagnosis
Subject(s)
Male , Adult , Humans , Cardiomegaly/diagnosis , Syncope/diagnosis , Captopril/therapeutic use , Antihypertensive Agents/therapeutic useABSTRACT
No disponible
Subject(s)
Male , Aged , Humans , Medication Errors/adverse effects , Asthenia/chemically induced , Hypertension/drug therapyABSTRACT
La enfermedad celíaca es una patología crónica del intestino delgado, causada por una intolerancia al gluten, en la que hay una lesión característica e inespecífica que conlleva una malabsorción de nutrientes y vitaminas. En el adulto es una entidad infradiagnosticada debido a sus formas atípicas. Es fundamental realizar un diagnóstico precoz, pues la dieta exenta de gluten previene las complicaciones a largo plazo como el linfoma T intestinal y otras neoplasias digestivas, disminuyendo la mortalidad. Presentamos un caso de enfermedad celíaca del adulto oligosintomática en una paciente con antecedente de anemia ferropénica crónica y menorragia, comentamos las alteraciones clínico-nutricionales y la evolución de la paciente (AU)
Subject(s)
Humans , Female , Adult , Celiac DiseaseABSTRACT
Coeliac disease is a chronic pathology of the small intestine. The pathogenic mechanism is caused by gluten intolerance. This disease present a characteristic and unspecific injury that causes nutrients and vitamins malabsorption. In adults is an underdiagnosed entity due to atypical forms. To make a premature diagnosis is basic because gluten-free diet prevent the complications after long-term like the intestinal T lymphoma and other digestives malignancies, and decrease the mortality of these patients. We present a case of adult oligosymptomatic coeliac disease in a patient with iron deficiency anaemia and vaginal bleeding. We study the clinic-nutrition and the alterations evolution of the patient.
Subject(s)
Celiac Disease/diagnosis , Adult , Celiac Disease/complications , Female , HumansABSTRACT
La diabetes mellitus es considerada, hoy día, como una de las enfermedades crónicas más frecuentes; por ello, es importante conocer cuáles son sus alteraciones más relevantes a nivel bucal. Objetivos: Estudiar los distintos signos y síntomas que presentan los pacientes diabéticos en la cavidad oral. Valorar el estado de higiene oral y la prevalencia de caries dental en una población diabética con respecto a una población control. Diseño del estudio: Hemos realizado el trabajo sobre 70 pacientes diabéticos (30 varones y 40 mujeres) con edades comprendidas entre 11 y 81 años, y una población control de 74 pacientes no diabéticos (29 varones y 45 mujeres) con edades comprendidas entre 11 y 75 años. Dentro de la población diabética se valoró el tipo de diabetes, el grado de control de su enfermedad mediante la hemoglobina glicosilada, el tiempo de evolución de la diabetes y la existencia o no de complicaciones tardías. La higiene oral se midió mediante el índice placa de O´Leary. La prevalencia de caries se estudió mediante el índice CAOD. Resultados: El estado de higiene oral fue significativamente peor en los pacientes diabéticos respecto a los controles a partir de los 56 años de edad. No hemos encontrado diferencias significativas en la prevalencia de caries ni en el índice CAOD, si bien, éste fue ligeramente más elevado en los pacientes diabéticos. El estudio de los pacientes diabéticos evidenció que sólo el tipo y la evolución de su enfermedad fueron parámetros significativos en relación al número de caries, mientras que para el índice de placa no se halló significación para ninguno de los parámetros analizados. Conclusiones: En el presente estudio hemos observado un mayor número de ausencias dentarias en la población diabética con respecto a una población sana. No hemos encontrado diferencias en el número de caries, ausencias y obturaciones en función del control metabólico, tiempo de evolución y existencia o no de complicaciones tardías de la diabetes (AU)
Subject(s)
Middle Aged , Child , Adolescent , Adult , Aged , Aged, 80 and over , Male , Female , Humans , Prevalence , Case-Control Studies , Mouth Diseases , Oral Health , Burning Mouth Syndrome , Dental Plaque , Dental Caries , Diabetes Mellitus, Type 2 , Diabetes Mellitus, Type 1ABSTRACT
Hypoglycaemic episodes and low insulin requirements are frequently seen in the early phase of treatment of Type 1 diabetes mellitus but the mechanism is not clear. We present a diabetic patient with recurrent hypoglycaemia in the early phase of insulin treatment. A very high glucose transport in adipocytes (basal: 176 and insulin stimulated glucose transport 10(-7) mol l(-1): 335 fl cell(-1) s(-1)) was found when compared with reference laboratory diabetic patients (basal: 59 +/- 10 and insulin 10(-7) mol l(-1): 106 +/- 7 fl cell(-1) s(-1), mean +/- SE) and with reference laboratory of non-diabetic subjects (basal: 106 +/- 6 and insulin 10(-7) mol l(-1): 188 +/- 15 fl cell(-1) s(-1)). Insulin binding to adipocytes was in the normal range. The patient was studied again 1 year later when the partial clinical remission had disappeared, and the glucose transport in adipocytes had decreased. In conclusion, an increase in glucose uptake by peripheral tissues may be among the mechanisms of the partial 'honeymoon' period of diabetic patients.