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1.
SEMERGEN, Soc. Esp. Med. Rural Gen. (Ed. Impr.) ; 49(8): [e102074], nov.-dic. 2023. ilus, graf
Artigo em Espanhol | IBECS | ID: ibc-228031

RESUMO

La diabetes mellitus tipo 3c (DM3c) es una diabetes (DM) del páncreas exocrino que habrá que sospechar siempre que existan antecedentes de pancreatitis crónica (PC), pancreatitis aguda (PA) o recidivante (PAR) (80% de los casos) o una DM de nueva aparición en individuos a partir de los 50 años sin otra justificación (pruebas de autoinmunidad negativas, anticuerpos contra la descarboxilasa del ácido glutámico). Se trata de una entidad mal diagnosticada como diabetes tipo 2 (DM2) (90%) y, por ello, de no sospecharla puede pasar inadvertida. Para su diagnóstico son de utilidad la ecografía abdominal, la determinación del antígeno tumoral carbohydrate antigen 19-9 (CA 19.9), la resonancia magnética nuclear (RMN) o la tomografía axial computarizada (TAC). El tratamiento es el mismo de la DM2, aunque con ciertas especificaciones según el tipo de fármacos y con la particularidad de que al tratarse de una «diabetes frágil» habrá que tener mayor precaución con las hipoglucemias (monitorización). Asimismo, al ser una enfermedad del páncreas exocrino habrá que tratar específicamente esta para evitar las alteraciones metabólicas, malabsortivas y/o nutricionales (AU)


DM3c is diabetes (DM) of the exocrine pancreas that must be suspected whenever there is a history of chronic pancreatitis (CP), acute pancreatitis (AP) or recurrence (80% of cases) or new-onset DM in individuals from over 50 years of age without any other justification (negative autoimmunity tests, Glutamic Acid Decarboxylase antibodies). It is an entity misdiagnosed as type 2 diabetes (DM2) (90%) and therefore, if it is not suspected, it can go unnoticed. For its diagnosis, abdominal ultrasound, determination of the CA 19.9 tumor antigen (carbohydrate antigen 19-9), nuclear magnetic resonance (NMR) or computerized axial tomography (CT) are useful. The treatment is the same as DM2, although certain specifications depend on the type of drugs and with the particularity that in dealing with «fragile diabetes» greater caution must be taken with hypoglycemia (monitoring). Likewise, as it is a disease of the exocrine pancreas, it will have to be specifically treated to avoid metabolic, malabsorptive and/or nutritional alterations (AU)


Assuntos
Humanos , Diabetes Mellitus/classificação , Diabetes Mellitus/etiologia , Diabetes Mellitus
2.
SEMERGEN, Soc. Esp. Med. Rural Gen. (Ed. Impr.) ; 49(8): [e102066], nov.-dic. 2023. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-228038

RESUMO

Antecedentes y objetivos Estudios previos que cuantifican el coste de la diabetes tipo 2 (DM2) muestran resultados muy dispares. Nos planteamos definir el perfil del paciente con DM2 en Andalucía, analizar el uso de recursos sanitarios y, cuantificar su coste económico en el año 2022. Pacientes y métodos Estudio multicéntrico, transversal y descriptivo; 385 pacientes con DM2 de toda Andalucía (IC 95%; error: 5%). Datos analizados: edad, sexo, asistencia a consultas de Atención Primaria (AP), de enfermería, de urgencias y de especialidades hospitalarias; consumo de fármacos en general y antidiabéticos en particular, tiras de glucemia, pruebas complementarias y días de ingreso hospitalario. Resultados Edad media: 70,7 ± 12,44 años; 53,6% hombres. Contactos asistenciales: médico de AP: 8,36 ± 4,69; enfermería: 7,17 ± 12; consultas hospitalarias: 2,31 ± 2,38; urgencias: 1,71 ± 2,89. Días de ingreso hospitalario: 2,26 ± 6,46. Analíticas: 3,79 ± 5,45 y 2,17 ± 3,47 Rx. Fármacos consumidos: 9,20 ± 3,94 (1,76 ± 0,90 antidiabéticos). Tiras glucemia: 184 ± 488. Coste anual: 5.171,05 €/paciente/año (2.228,36 € por ingresos hospitalarios, 1.702,87 € por fármacos y 1.239,82 € por asistencias y pruebas complementarias). Conclusiones El andaluz con DM2 tiene 71 años de edad, consume 10 fármacos diferentes y trata su DM2 con doble terapia. Tiene 20 asistencias/año (75% en AP), cuatro análisis, dos Rx y precisa dos días de ingreso hospitalario. Los costes sanitarios directos superan los 5.000 €/año. Lo que supone 41,66% del presupuesto de la Consejería de Salud y triplica el gasto medio por habitante (AU)


Background and objectives Previous studies that quantify the cost of type 2 diabetes (DM2) show very different results. We set out to define the profile of the patient with DM2 in Andalusia, analyze the use of health resources and quantify their economic cost during 2022. Patients and methods Multicenter, cross-sectional and descriptive study. Three hundred and eighty-five patients with DM2 from Andalusia (confidence level: 95%; error: 5%). Data analyzed: age, sex, attendance at primary care (PC), nursing, emergency and hospital specialty consultations; consumption of drugs in general and antidiabetics in particular, blood glucose strips, complementary tests and hospitalization days. Results Mean age: 70.7 ± 12.44 years; 53.6% men. Care contacts: PC physician: 8.36 ± 4.69; nursing: 7.17 ± 12; hospital visits: 2.31 ± 2.38; emergencies: 1.71 ± 2.89; hospitalization days: 2.26 ± 6.46. Laboratory tests: 3.79 ± 5.45 and 2.17 ± 3.47 Rx. Drugs consumed: 9.20 ± 3.94 (1.76 ± 0.90 antidiabetics). Blood glucose strips: 184 ± 488. Annual cost: 5171.05 €/patient/year (2228.36 € for hospital admissions, 1702.87 € for drugs and 1239.82 € for assistance and complementary tests). Conclusions The DM2 Andalusian is 71 years old, consumes 10 different drugs and treats DM2 with double therapy. He has been 20 attendances/year (75% in PC), 4 analyses, 2 X-rays and requires 2 days of hospitalization. Direct healthcare costs goes over 5000 €/year. This represents 41.66% of the budget of the Andalusian Ministry of Health and triples the average cost per habitant (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Diabetes Mellitus Tipo 2/economia , Custos de Medicamentos/estatística & dados numéricos , Efeitos Psicossociais da Doença , Estudos Transversais , Espanha
3.
Semergen ; 49(8): 102074, 2023.
Artigo em Espanhol | MEDLINE | ID: mdl-37672810

RESUMO

DM3c is diabetes (DM) of the exocrine pancreas that must be suspected whenever there is a history of chronic pancreatitis (CP), acute pancreatitis (AP) or recurrence (80% of cases) or new-onset DM in individuals from over 50 years of age without any other justification (negative autoimmunity tests, Glutamic Acid Decarboxylase antibodies). It is an entity misdiagnosed as type 2 diabetes (DM2) (90%) and therefore, if it is not suspected, it can go unnoticed. For its diagnosis, abdominal ultrasound, determination of the CA 19.9 tumor antigen (carbohydrate antigen 19-9), nuclear magnetic resonance (NMR) or computerized axial tomography (CT) are useful. The treatment is the same as DM2, although certain specifications depend on the type of drugs and with the particularity that in dealing with «fragile diabetes¼ greater caution must be taken with hypoglycemia (monitoring). Likewise, as it is a disease of the exocrine pancreas, it will have to be specifically treated to avoid metabolic, malabsorptive and/or nutritional alterations.


Assuntos
Diabetes Mellitus Tipo 2 , Pancreatite , Humanos , Pessoa de Meia-Idade , Pancreatite/diagnóstico , Diabetes Mellitus Tipo 2/diagnóstico , Doença Aguda
4.
Semergen ; 49(8): 102066, 2023.
Artigo em Espanhol | MEDLINE | ID: mdl-37517163

RESUMO

BACKGROUND AND OBJECTIVES: Previous studies that quantify the cost of type 2 diabetes (DM2) show very different results. We set out to define the profile of the patient with DM2 in Andalusia, analyze the use of health resources and quantify their economic cost during 2022. PATIENTS AND METHODS: Multicenter, cross-sectional and descriptive study. Three hundred and eighty-five patients with DM2 from Andalusia (confidence level: 95%; error: 5%). DATA ANALYZED: age, sex, attendance at primary care (PC), nursing, emergency and hospital specialty consultations; consumption of drugs in general and antidiabetics in particular, blood glucose strips, complementary tests and hospitalization days. RESULTS: Mean age: 70.7 ± 12.44 years; 53.6% men. Care contacts: PC physician: 8.36 ± 4.69; nursing: 7.17 ± 12; hospital visits: 2.31 ± 2.38; emergencies: 1.71 ± 2.89; hospitalization days: 2.26 ± 6.46. LABORATORY TESTS: 3.79 ± 5.45 and 2.17 ± 3.47 Rx. Drugs consumed: 9.20 ± 3.94 (1.76 ± 0.90 antidiabetics). Blood glucose strips: 184 ± 488. Annual cost: 5171.05 €/patient/year (2228.36 € for hospital admissions, 1702.87 € for drugs and 1239.82 € for assistance and complementary tests). CONCLUSIONS: The DM2 Andalusian is 71 years old, consumes 10 different drugs and treats DM2 with double therapy. He has been 20 attendances/year (75% in PC), 4 analyses, 2 X-rays and requires 2 days of hospitalization. Direct healthcare costs goes over 5000 €/year. This represents 41.66% of the budget of the Andalusian Ministry of Health and triples the average cost per habitant.


Assuntos
Diabetes Mellitus Tipo 2 , Masculino , Humanos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Feminino , Diabetes Mellitus Tipo 2/tratamento farmacológico , Glicemia , Estudos Transversais , Hipoglicemiantes/uso terapêutico , Custos de Cuidados de Saúde
5.
Rev Neurol ; 70(6): 206-212, 2020 Mar 16.
Artigo em Espanhol | MEDLINE | ID: mdl-32149380

RESUMO

INTRODUCTION: Studies about childhood epilepsy with centrotemporal spikes (CECTS), most of them retrospective, include patients with highly heterogeneous features. AIM: To investigate the prognostic value of objective diagnostic criteria for CECTS applied at six month of evolution of epilepsy. PATIENTS AND METHODS: All patients with one or more unprovoked epileptic seizures (n = 827) were prospectively included. We investigated prognosis and clinical features of five groups of patients defined in accordance with the presence of centrotemporal spikes (CTS) and the following signs: speech arrest or dysarthria; hemifacial tonic or clonic contractions; and prominent sialorrhea. Group A (two or three signs and CTS), group B (one sign and CTS), group C (no sign and CTS), group D (two or three signs without CTS), group E (tonic-clonic generalized seizures and CTS). RESULTS: 52, 12, 12, 22 and 8 cases were classified respectively into groups A, B, C, D and E. Patients of the five groups presented a similar semiology but differences in the probability of attaining a 3-years remission without antiepileptic treatment were observed: group A (98%), group B (92%), group C (90%), group D (77%), group E (100%). The difference between groups A and D was statistically significant. CONCLUSION: Cases of group A could be considered as well-defined cases of CECTS; cases of groups B, C and E, as probable cases of CECTS, and cases of group D must be excluded from the diagnosis.


TITLE: Pronóstico de la epilepsia de la infancia con puntas centrotemporales: utilidad clínica de unos criterios diagnósticos objetivos.Introducción. Los estudios sobre el pronóstico de la epilepsia de la infancia con puntas centrotemporales (EIPCT), la mayoría retrospectivos, incluyen a pacientes con características clínicas muy heterogéneas. Objetivo. Investigar el valor pronóstico de unos criterios diagnósticos objetivos de EIPCT aplicados a los seis meses de evolución de la epilepsia. Pacientes y métodos. Se incluyó prospectivamente a todos los pacientes con una o más crisis epilépticas no provocadas (n = 827). Se investigó el pronóstico y las características clínicas de cinco grupos de pacientes, definidos según la presencia de punta-onda centrotemporal (POCT) y de los siguientes signos: bloqueo del habla o disartria, contracciones tónicas o clónicas hemifaciales y sialorrea prominente. Grupo A (dos o tres signos y POCT), grupo B (un signo y POCT), grupo C (ningún signo y POCT), grupo D (dos o tres signos sin POCT), grupo E (crisis tonicoclónicas generalizadas y POCT). Resultados. Se clasificaron 52, 12, 12, 22 y 8 casos, respectivamente, en los grupos A, B, C, D y E. Los pacientes de los cinco grupos presentaron una semiología similar, pero se observaron diferencias en la probabilidad de alcanzar una remisión inicial de tres años sin crisis ni tratamiento antiepiléptico: grupo A (98%), grupo B (92%), grupo C (90%), grupo D (77%) y grupo E (100%). La diferencia entre los grupos A y D fue estadísticamente significativa. Conclusión. Los casos del grupo A podrían considerarse como casos bien definidos de EIPCT; los casos de los grupos B, C y E, como casos probables, y los del grupo D deberían excluirse del diagnóstico.


Assuntos
Epilepsia Rolândica/diagnóstico , Adolescente , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia Rolândica/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Lactente , Masculino , Neuroimagem , Prognóstico , Estudos Prospectivos , Avaliação de Sintomas
6.
Rev Neurol ; 68(9): 369-374, 2019 May 01.
Artigo em Espanhol | MEDLINE | ID: mdl-31017289

RESUMO

INTRODUCTION: Panayiotopoulos syndrome (PS) is an epileptic syndrome of childhood. Until now only a small number of studies have been published about this syndrome. AIM: To study the frequency, semiology and prognosis of PS. PATIENTS AND METHODS: all patients with one or more unprovoked seizures seen at our hospital between 1 June 1994 and 1 March 2011 (n = 827) were included and prospectively followed until 30 April 2018. A diagnosis of PS was made in patients that fulfilled all the following criteria at six month of evolution: seizures with predominantly autonomic symptoms, presence of high amplitude, «functional morphology¼, focal spikes and slow wave complexes in any location, absence of a previous neurological deficit and normal neuroimaging. RESULTS: 27 cases (3,3%) met the diagnostic criteria. Semiology of the seizures was similar to that described by other authors. 88% of these cases attained a 3-year initial remission without antiepileptic treatment (three years both without seizures and without treatment). 62 cases (7,5%) met all the diagnostic criteria with the exception of the presence of the EEG features. Semiology of these cases was similar and 85% attained a 3-year initial remission without antiepileptic treatment. CONCLUSIONS: In daily practice, patients with a clinical picture suggestive of PS but without the typical EEG features are common. This group of patients also have a good outcome.


TITLE: Frecuencia, semiologia y pronostico del sindrome de Panayiotopoulos.Introduccion. El sindrome de Panayiotopulos (SP) es un sindrome epileptico sobre el que hasta la fecha se ha publicado unicamente un pequeño numero de estudios. Objetivo. Estudiar la frecuencia, la semiologia y el pronostico del SP. Pacientes y metodos. Todos los pacientes con una o mas crisis epilepticas no provocadas que consultaron en nuestro hospital entre el 1 de junio de 1994 y el 1 de marzo de 2011 (n = 827) fueron incluidos y seguidos prospectivamente hasta el 30 de abril de 2018. Se diagnostico de SP a los pacientes que cumplieron los siguientes criterios a los seis meses de evolucion: una o mas crisis no provocadas con sintomas predominantemente autonomicos, presencia de complejos de puntas y ondas lentas focales de gran amplitud y «morfologia funcional¼, ausencia de deficit neurologico previo y neuroimagen normal. Resultados. Cumplieron los criterios de SP 27 casos (3,3%). La semiologia de las crisis fue similar a la descrita por otros autores. Un 88% de casos alcanzo una remision inicial de tres años sin tratamiento antiepileptico (sin crisis y sin tratamiento durante tres años). Sesenta y dos pacientes (7,5%) cumplieron todos los criterios de SP, a excepcion de la presencia de las tipicas alteraciones en el electroencefalograma. La semiologia de estos casos fue similar, y un 85% alcanzo una remision inicial de tres años sin tratamiento antiepileptico. Conclusiones. En la practica diaria son frecuentes los pacientes con crisis sugestivas de SP, pero sin las tipicas alteraciones en el electroencefalograma. Este grupo de pacientes tambien presenta un buen pronostico.


Assuntos
Síndromes Epilépticas/diagnóstico , Síndromes Epilépticas/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Prognóstico , Estudos Prospectivos
7.
Rev Neurol ; 66(8): 254-260, 2018 Apr 16.
Artigo em Espanhol | MEDLINE | ID: mdl-29645068

RESUMO

INTRODUCTION: Benign infantile epilepsy is an epileptic syndrome of infancy. Until now, only a small number of case-series have been published. AIM: To study the frequency, semiology and prognosis of benign infantile epilepsy. PATIENTS AND METHODS: The 827 patients with one or more epileptic seizures seen at our hospital between 1 June 1994 and 1 March 2011 were included and prospectively followed. A diagnosis of benign infantile epilepsy was made in patients that fulfilled the following criteria at six month of evolution: one or more focal and/or generalised seizures, onset before 24 months, no neurological deficit and normal neuroimaging and interictal EEG. RESULTS: 77 cases (9%) met the diagnostic criteria. Semiology of the seizures was similar to that of other focal seizures in children under 24 months. 25% of the patients remained as isolated seizures. Among those with two or more seizures, the probability of achieving a 3 year initial remission without antiepileptic treatment was 86%. In the subgroup of patients with focal seizures without family history the probability was 74% and in five cases a global developmental delay/intellectual disability was detected thereafter. CONCLUSIONS: Benign infantile epilepsy is a frequent epileptic syndrome. Semiology of seizures is not useful to characterize the syndrome. A diagnosis of benign infantile epilepsy at six month of evolution implies a reasonably good prognosis, but possibly not as good as for other self-limited epilepsies of infancy.


TITLE: Frecuencia, semiologia y pronostico de la epilepsia infantil benigna.Introduccion. La epilepsia infantil benigna es un sindrome epileptico sobre el que hasta ahora se ha publicado tan solo un pequeño numero de series de casos. Objetivo. Estudiar la frecuencia, semiologia y pronostico de la epilepsia infantil benigna. Pacientes y metodos. Los 827 pacientes con una o mas crisis epilepticas no provocadas que consultaron en nuestro hospital entre el 1 de junio de 1994 y el 1 de marzo de 2011 fueron incluidos y seguidos prospectivamente. Se diagnosticaron de epilepsia infantil benigna los pacientes que cumplieron los siguientes criterios a los seis meses de evolucion: una o mas crisis focales o generalizadas, inicio antes de los 24 meses, ausencia de deficits neurologicos y electroencefalograma y neuroimagen normales. Resultados. Cumplieron los criterios diagnosticos 77 casos (9%). La semiologia de las crisis fue similar a la de otras crisis focales en niños menores de 24 meses. Un 25% de los pacientes permanecio como con crisis aisladas. Entre los de dos o mas crisis epilepticas, la probabilidad de alcanzar una remision inicial de tres años sin tratamiento antiepileptico fue del 86%. En el subgrupo de pacientes con crisis focales sin antecedentes familiares, la probabilidad fue del 74%, y en cinco casos se detecto posteriormente un retraso psicomotor o discapacidad intelectual. Conclusiones. La epilepsia infantil benigna es un sindrome epileptico frecuente. La semiologia de las crisis no es util para caracterizar el sindrome. El diagnostico de epilepsia infantil benigna a los seis meses de evolucion implica un pronostico razonablemente bueno, pero posiblemente no tanto como el de otras epilepsias autolimitadas de la infancia.


Assuntos
Epilepsia Neonatal Benigna/epidemiologia , Idade de Início , Anticonvulsivantes/uso terapêutico , Distribuição de Qui-Quadrado , Diagnóstico Diferencial , Epilepsias Parciais/complicações , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/tratamento farmacológico , Epilepsia Neonatal Benigna/diagnóstico , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/complicações , Masculino , Prognóstico , Estudos Prospectivos , Transtornos Psicomotores/complicações , Remissão Espontânea , Espanha/epidemiologia , Avaliação de Sintomas
12.
An. pediatr. (2003, Ed. impr.) ; 79(1): 46-49, jul. 2013. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-114129

RESUMO

La enfermedad de la sustancia blanca evanescente es una enfermedad genética de herencia autosómica recesiva que afecta a la sustancia blanca cerebral. Existen varios fenotipos que difieren en la gravedad y la edad de inicio. Clásicamente, se caracteriza por la aparición de ataxia, espasticidad y un deterioro motor progresivo con exacerbaciones desencadenadas por procesos febriles y traumatismos craneales leves. Niña de 2,5 años, que tras traumatismo craneal leve, presentó marcha atáxica, hemiparesia izquierda y reflejos osteotendinosos exaltados. En la resonancia magnética cerebral se observó afectación difusa y simétrica de la sustancia blanca cerebral, con hiposeñal en T1 e hiperseñal en T2, y FLAIR. Se sospechó enfermedad de la sustancia blanca evanescente que se confirmó en el estudio genético al encontrar 2 mutaciones consideradas patogénicas, en el gen EIF2B5, una de ellas no descrita previamente. La hemiparesia debe incluirse entre las manifestaciones clínicas de la enfermedad de la sustancia blanca evanescente. El diagnóstico precoz puede ayudar a evitar infecciones y traumatismos, así como a realizar un adecuado consejo genético a las familias. Nuestro caso aporta además la identificación de una nueva mutación en el gen EIF2B5 (p.Gly132Ala en la posición 395), no descrita previamente, cuyas características sugieren que es patogénica con elevada probabilidad, por lo que estimamos que debería ser considerada entre las mutaciones del complejo EIF2B responsables de la enfermedad (AU)


Vanishing white matter disease is a genetic disorder of autosomal recessive inheritance that affects the brain white matter There are various phenotypes that differ in severity and age at onset. Usually, it is characterized by ataxia, spasticity and a progressive motor decline with exacerbations triggered by fever and mild head traumas. The patient was a 2.5 year-old girl who developed unstable gait, left hemiparesis and increased tendon reflexes following a mild head trauma. Brain MRI showed diffuse and symmetric white matter abnormalities with decreased signal on T1 and increased signal on T2 and FLAIR sequences. Vanishing White Matter disease was suspected. The diagnosis was confirmed by genetic molecular testing that showed 2 mutations in EIF2B5 gene. Both mutations were considered pathogenic, although one had not been previously described. Hemiparesis must be included among clinical features of vanishing white matter disease. Early diagnosis can help to avoid infections and traumas and allows families to be genetically counselled. Our case contributes with the identification of a new mutation in EIF2B5 gene (p.Gly132Ala in position 395), not previously described. Its characteristics suggest a high probability of being pathogenic. We believe that it should be considered among the complex EIF2B mutations responsible for the disease (AU)


Assuntos
Humanos , Feminino , Pré-Escolar , Paresia/complicações , Paresia/diagnóstico , Paresia/genética , Ataxia/complicações , Ataxia/diagnóstico , Mutação/genética , Mutação/fisiologia , Diagnóstico Precoce , Paresia/fisiopatologia , Ataxia/genética , Ataxia/fisiopatologia , /métodos
13.
An Pediatr (Barc) ; 79(1): 46-9, 2013 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-23434401

RESUMO

Vanishing white matter disease is a genetic disorder of autosomal recessive inheritance that affects the brain white matter There are various phenotypes that differ in severity and age at onset. Usually, it is characterized by ataxia, spasticity and a progressive motor decline with exacerbations triggered by fever and mild head traumas. The patient was a 2.5 year-old girl who developed unstable gait, left hemiparesis and increased tendon reflexes following a mild head trauma. Brain MRI showed diffuse and symmetric white matter abnormalities with decreased signal on T1 and increased signal on T2 and FLAIR sequences. Vanishing White Matter disease was suspected. The diagnosis was confirmed by genetic molecular testing that showed 2 mutations in EIF2B5 gene. Both mutations were considered pathogenic, although one had not been previously described. Hemiparesis must be included among clinical features of vanishing white matter disease. Early diagnosis can help to avoid infections and traumas and allows families to be genetically counselled. Our case contributes with the identification of a new mutation in EIF2B5 gene (p.Gly132Ala in position 395), not previously described. Its characteristics suggest a high probability of being pathogenic. We believe that it should be considered among the complex EIF2B mutations responsible for the disease.


Assuntos
Leucoencefalopatias/complicações , Leucoencefalopatias/genética , Mutação , Paresia/genética , Pré-Escolar , Feminino , Humanos , Leucoencefalopatias/diagnóstico
14.
SEMERGEN, Soc. Esp. Med. Rural Gen. (Ed. impr.) ; 38(5): 265-277, jul.-ago. 2012. ilus
Artigo em Espanhol | IBECS | ID: ibc-100816

RESUMO

En los reconocimientos escolares, realizados de forma periódica, detectamos un continuo aumento de la obesidad y del sedentarismo en nuestros escolares; con este trabajo pretendemos contrastar, con datos objetivos, la situación real de la población infantil de nuestro entorno respecto a sus hábitos alimenticios, su actividad física e higiene. Material y métodos. Se entregaron cuestionarios sobre hábitos alimenticios, preferencias en cuanto a la dieta, práctica de ejercicio e higiene dental a 430 escolares de entre 6 y 10 años. Fueron válidos para su estudio 366. Resultados. El 85,8% de los encuestados vivía en el seno de una familia «tradicional»; el 22% tenía familiares con sobrepeso; el 96,7% desayunaba antes de ir al colegio, siendo los lácteos el producto más consumido; la bollería industrial era muy utilizada tanto en el desayuno (7,4%) como en el recreo (16,9%). La comida favorita era la pasta en el 29,8% de los casos, seguida de las patatas, sobre todo fritas (10,4%). Los alimentos que menos gustaban eran las verduras (26,2%) y el pescado (8,2%). El 70% veía diariamente la televisión más de 2 h; el 34% pasaba 2 h o más al día jugando con las videoconsolas o similares, por otra parte, los deberes y el estudio ocupaban más de 2 h diarias al 50% de los alumnos. El 55% de los encuestados consumía chucherías 2 o más veces al día, y comer y ver la televisión de forma simultánea era un hábito casi constante en más del 60%. El 9,29% de los participantes en el estudio no se limpiaba los dientes nunca. Conclusiones. El conocimiento teórico de lo que debe de ser una correcta alimentación parece ser adecuado, pero su puesta en práctica no. La población estudiada tiene hábitos bastante sedentarios, come poca fruta y no le agradan ni las legumbres, ni las verduras, ni el pescado. Todos estos factores disminuyen la protección cardiovascular asociada a su práctica y consumo, y comprobamos que ya están presentes desde la infancia, en nuestra población, lo que sin duda repercutirá en su futuro estado de salud y bienestar, en caso de no modificarse (AU)


In schoolchildren examinations, carried out periodically, we detect a continuous increase in obesity and sedentarism in our schoolchildren. In this study we attempt to compare, with objective data, the real situation of the childhood population in our area, as regards their eating habits, physical activity and hygiene. Material and methods. Questionnaires on eating habits, preferences as regards diet, doing exercise, and dental hygiene, were handed out to 430 schoolchildren between 6 and 10 years-old. A total of 366 were valid for the study. Results. The majority (85.8%) of those surveyed lived within a "traditional" family; 22% had family members who were overweight; 96.7% had breakfast before going to school, with milk products being the most consumed; the cake and pastry industry was well used, both at breakfast (7.4%) and at playtime (16.9%). The favourite food was pasta in 29.8% of cases, followed by potatoes, particularly fried (10.4%). The least liked foods were vegetables (26.2%) and fish (8.2%). Television was watched for more than 2hours by 70%; 34% exceeded 2hours or more per day playing with video consoles or similar. On the other hand, homework and studying took up more than 2hours daily for 50% of pupils. A majority (55%) of those surveyed ate sweets 2 or more time a day, and to eat and watch television at the same time was an almost constant habit in more than 60%. Of the participants in the study, 9.29% never brushed their teeth. Conclusions. The theoretical knowledge of what should be a correct diet seems adequate, but its putting into practice is not. The population studies had fairly sedentary habits, with little fruit and they did not like pulses or vegetables or fish. All these factors decrease the cardiovascular protection associated with its practice and consumption. We have shown that they are already present since childhood in our population, which without a doubt will have repercussions in their future health status and well-being, if it is not changed (AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Atenção Primária à Saúde/métodos , Inquéritos Nutricionais , Sobrepeso/epidemiologia , Dietoterapia/métodos , Dietoterapia , Exercício Físico , Obesidade/epidemiologia , Comportamento Alimentar/fisiologia , Inquéritos e Questionários , Atenção Primária à Saúde/normas , Atenção Primária à Saúde/tendências , Atenção Primária à Saúde , Inquéritos Nutricionais/métodos , Inquéritos Nutricionais/estatística & dados numéricos , Sobrepeso/complicações , Sobrepeso/dietoterapia , Estudos Transversais/métodos , Estudos Transversais
15.
Semergen ; 38(5): 265-77, 2012.
Artigo em Espanhol | MEDLINE | ID: mdl-23544773

RESUMO

UNLABELLED: In schoolchildren examinations, carried out periodically, we detect a continuous increase in obesity and sedentarism in our schoolchildren. In this study we attempt to compare, with objective data, the real situation of the childhood population in our area, as regards their eating habits, physical activity and hygiene. MATERIAL AND METHODS: Questionnaires on eating habits, preferences as regards diet, doing exercise, and dental hygiene, were handed out to 430 schoolchildren between 6 and 10 years-old. A total of 366 were valid for the study. RESULTS: The majority (85.8%) of those surveyed lived within a "traditional" family; 22% had family members who were overweight; 96.7% had breakfast before going to school, with milk products being the most consumed; the cake and pastry industry was well used, both at breakfast (7.4%) and at playtime (16.9%). The favourite food was pasta in 29.8% of cases, followed by potatoes, particularly fried (10.4%). The least liked foods were vegetables (26.2%) and fish (8.2%). Television was watched for more than 2 hours by 70%; 34% exceeded 2 hours or more per day playing with video consoles or similar. On the other hand, homework and studying took up more than 2 hours daily for 50% of pupils. A majority (55%) of those surveyed ate sweets 2 or more time a day, and to eat and watch television at the same time was an almost constant habit in more than 60%. Of the participants in the study, 9.29% never brushed their teeth. CONCLUSIONS: The theoretical knowledge of what should be a correct diet seems adequate, but its putting into practice is not. The population studies had fairly sedentary habits, with little fruit and they did not like pulses or vegetables or fish. All these factors decrease the cardiovascular protection associated with its practice and consumption. We have shown that they are already present since childhood in our population, which without a doubt will have repercussions in their future health status and well-being, if it is not changed.


Assuntos
Dieta , Exercício Físico , Comportamento Alimentar , Inquéritos e Questionários , Criança , Estudos Transversais , Feminino , Humanos , Masculino
16.
Allergol. immunopatol ; 38(4): 174-180, jul.-ago. 2010. graf, tab
Artigo em Inglês | IBECS | ID: ibc-86413

RESUMO

Background: Atopic eczema affects 5-10% of the Spanish paediatric population, and has increased in frequency over the last few decades, probably due to changes in the environment and lifestyle. Phase II of the ISAAC (International Study of Asthma and Allergies in Childhood) uses a standardised methodology to establish the prevalence of allergic disorders and factors linked to them in each centre. Objectives: To assess the prevalence and severity of atopic eczema, and to establish factors linked to atopic eczema in 10–11 year-old school children in the city of Almeria (South-East coast of Spain). Material and methods: An ecological study was carried out as part of ISAAC II, using homologated questionnaires and allergic tests in 1143 schoolchildren. Statistic association was assessed by means of ÷2 test, and then logistic regression analysis was performed with the most significant variables from the univariant analysis. Results: The prevalence of atopic eczema was 11.4%. The risk factors found in the multiple logistic regression analysis were: personal antecedents of severe asthma (OR 19 CI 95% 1.35–266) and severe rhinitis (OR 7.7 CI 95% 1.79–33), fungi in bedroom during the first year of life (OR 4.2 CI 95% 1.17–15.1) and atopic eczema in one parent (OR 5.2 CI 95% 2.69–10.1). Conclusions: The prevalence of atopic eczema is similar to that found in other studies within ISAAC Phase I. The most important risk factors for atopic eczema are family and personal history of other atopic diseases and the presence of fungi in the home


No disponible


Assuntos
Humanos , Masculino , Feminino , Criança , Dermatite Atópica/epidemiologia , Rinite/complicações , Rinite/epidemiologia , Asma/diagnóstico , Dermatite Atópica/prevenção & controle , Dermatite Atópica/fisiopatologia , Rinite/prevenção & controle , Asma/epidemiologia , Modelos Logísticos , Fatores de Risco
17.
Allergol. immunopatol ; 38(3): 135-141, jun. 2010. graf, tab
Artigo em Inglês | IBECS | ID: ibc-86379

RESUMO

Background: Allergic rhinitis affects 10-30% of children in developed countries and has increased in frequency over the last few decades, probably due to changes in the environment and life style. Aim: To assess the prevalence, severity, and factors linked to rhinitis in 10 and 11-year-old children from Almeria (Spain). Methods: As part of ISAAC II, a cross-sectional survey was conducted among a representative sample of 1143 schoolchildren in spring and autumn of 2001, using homologated questionnaires and skin-prick testing. Results: The overall prevalence of rhinitis and rhinoconjunctivitis were 38.9% and 24.8%, respectively, 17.9% had medically diagnosed rhinitis. During the previous year symptoms disturbed daily activities and school attendance in some measure in 40% and 26% of children with rhinitis, respectively. Results: The risk factors found in the multiple logistic regression analysis were atopy (OR 2.57; 95% CI 1.92–3.42); cat contact at home during first year of life (OR 2.4 95% CI 1.13–5.12); prior medical diagnosis of asthma (OR 2.2; 95% CI 1.22–4.02); nocturnal cough in absence of colds (OR 1.9; 95% CI 1.25–2.97); diagnosis of rhinitis in one of the parents (OR 1.8; 95% CI 1.31–2.59); wheezing at any time (OR 1.6; 95% CI 1.18–2.28); and nursery school attendance (OR 1.5; 95% CI 1.21–2.5). Conclusions: The prevalence of rhinitis found is superior to that of other centres participating in the ISAAC Phases I and II, and coexists with asthma and eczema in many children. The independent risk factors associated to rhinitis are in accordance with previous reports


Assuntos
Humanos , Masculino , Feminino , Criança , Rinite/epidemiologia , Rinite Alérgica Sazonal/epidemiologia , Conjuntivite/complicações , Conjuntivite/epidemiologia , Dermatite Atópica/complicações , Dermatite Atópica/epidemiologia , Sons Respiratórios/fisiopatologia , Dermatite Atópica/fisiopatologia , Sons Respiratórios/diagnóstico , Inquéritos e Questionários , Modelos Logísticos
18.
Allergol Immunopathol (Madr) ; 38(3): 135-41, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20462685

RESUMO

BACKGROUND: Allergic rhinitis affects 10-30% of children in developed countries and has increased in frequency over the last few decades, probably due to changes in the environment and life style. AIM: To assess the prevalence, severity, and factors linked to rhinitis in 10 and 11-year-old children from Almeria (Spain). METHODS: As part of ISAAC II, a cross-sectional survey was conducted among a representative sample of 1143 schoolchildren in spring and autumn of 2001, using homologated questionnaires and skin-prick testing. RESULTS: The overall prevalence of rhinitis and rhinoconjunctivitis were 38.9% and 24.8%, respectively, 17.9% had medically diagnosed rhinitis. During the previous year symptoms disturbed daily activities and school attendance in some measure in 40% and 26% of children with rhinitis, respectively. The risk factors found in the multiple logistic regression analysis were atopy (OR 2.57; 95% CI 1.92-3.42); cat contact at home during first year of life (OR 2.4 95% CI 1.13-5.12); prior medical diagnosis of asthma (OR 2.2; 95% CI 1.22-4.02); nocturnal cough in absence of colds (OR 1.9; 95% CI 1.25-2.97); diagnosis of rhinitis in one of the parents (OR 1.8; 95% CI 1.31-2.59); wheezing at any time (OR 1.6; 95% CI 1.18-2.28); and nursery school attendance (OR 1.5; 95% CI 1.21-2.5). CONCLUSIONS: The prevalence of rhinitis found is superior to that of other centres participating in the ISAAC Phases I and II, and coexists with asthma and eczema in many children. The independent risk factors associated to rhinitis are in accordance with previous reports.


Assuntos
Asma/epidemiologia , Dermatite Atópica/epidemiologia , Rinite Alérgica Perene/epidemiologia , Rinite Alérgica Sazonal/epidemiologia , Atividades Cotidianas , Animais , Asma/fisiopatologia , Gatos , Criança , Estudos Transversais , Dermatite Atópica/fisiopatologia , Progressão da Doença , Feminino , Humanos , Masculino , Prevalência , Rinite Alérgica Perene/fisiopatologia , Rinite Alérgica Sazonal/fisiopatologia , Fatores de Risco , Testes Cutâneos , Espanha , Inquéritos e Questionários
19.
Allergol Immunopathol (Madr) ; 38(4): 174-80, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20138421

RESUMO

BACKGROUND: Atopic eczema affects 5-10% of the Spanish paediatric population, and has increased in frequency over the last few decades, probably due to changes in the environment and lifestyle. Phase II of the ISAAC (International Study of Asthma and Allergies in Childhood) uses a standardised methodology to establish the prevalence of allergic disorders and factors linked to them in each centre. OBJECTIVES: To assess the prevalence and severity of atopic eczema, and to establish factors linked to atopic eczema in 10-11 year-old school children in the city of Almeria (South-East coast of Spain). MATERIAL AND METHODS: An ecological study was carried out as part of ISAAC II, using homologated questionnaires and allergic tests in 1143 schoolchildren. Statistic association was assessed by means of chi(2) test, and then logistic regression analysis was performed with the most significant variables from the univariant analysis. RESULTS: The prevalence of atopic eczema was 11.4%. The risk factors found in the multiple logistic regression analysis were: personal antecedents of severe asthma (OR 19 CI 95% 1.35-266) and severe rhinitis (OR 7.7 CI 95% 1.79-33), fungi in bedroom during the first year of life (OR 4.2 CI 95% 1.17-15.1) and atopic eczema in one parent (OR 5.2 CI 95% 2.69-10.1). CONCLUSIONS: The prevalence of atopic eczema is similar to that found in other studies within ISAAC Phase I. The most important risk factors for atopic eczema are family and personal history of other atopic diseases and the presence of fungi in the home.


Assuntos
Asma/epidemiologia , Dermatite Atópica/epidemiologia , Fungos/imunologia , Micoses/epidemiologia , Rinite/epidemiologia , Asma/diagnóstico , Criança , Dermatite Atópica/diagnóstico , Características da Família , Feminino , Fungos/patogenicidade , Humanos , Masculino , Micoses/diagnóstico , Prevalência , Rinite/diagnóstico , Fatores de Risco , Instituições Acadêmicas , Testes Cutâneos , Espanha
20.
Allergol. immunopatol ; 38(1): 13-19, ene.-feb. 2010. tab, ilus
Artigo em Inglês | IBECS | ID: ibc-77096

RESUMO

Background During the last decades there has been an increase in both allergic diseases and allergic sensitisation, probably due to changes in the environment and living habits. ISAAC Phase II was designed to establish the prevalence and associated factors to asthma and allergic disorders in childhood. Aim To assess the prevalence and factors linked to atopy in 10–11 year-old children from Almería (Spain). Methods As a part of ISAAC II, a survey was conducted among a sample of 1143 schoolchildren using standardised questionnaires and skin-prick testing. Results The overall prevalence of atopy was 42.5%. Most common sensitisations were to Dermatophagoides pteronyssinus (36.2%), D. farinae (32.3%), cat (10.8%), Alternaria (7%), grass (6%), and tree pollen (1.7%). 34.9% of these sensitisations could be regarded as subclinical sensitisations. The fractions of asthma, rhinitis and eczema attributable to atopy were 49.2%, 40.4% y 18.6%, respectively. After multivariate analysis, the risk of atopy was significantly lower among females (OR 0.62, CI 95% 0.45-0.86); children with older siblings (OR 0.67; CI 95% 0.49-0.92); intestinal parasites (OR 0.68; CI 95% 0.48-0.97); contact with farm animals in the past (OR 0.48 CI 95% 0.23-0.99); or other animals at present (OR 0.53 CI 95% 0.30-0.95). To have an allergic father (OR 2.96 CI 95% 1.77-4.94) was the only significant risk factor. Conclusions We found several independent factors which significantly protect against atopic sensitisation. These protective factors were not the same for asthma, rhinitis or eczema, suggesting that other factors could interact to influence atopy and act against such protective factors


No disponible


Assuntos
Humanos , Masculino , Feminino , Criança , Rinite/epidemiologia , Dermatite Atópica/epidemiologia , Asma/epidemiologia , Sons Respiratórios/diagnóstico , Espanha/epidemiologia , Análise Multivariada , Reações Cruzadas
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