RESUMO
El síndrome de Allgrove (triple A) es una enfermedad autosómica recesiva rara. La tríada clásica incluye insuficiencia adrenal congénita debida a resistencia a la ACTH, acalasia del cardias y alacrimia. Se asocia a anomalías neurológicas, como neuropatía autonómica, sensitiva y motora, sordera, retraso mental, parkinsonismo y demencia. El gen responsable es el AAAS o ADRACALIN, que codifica una proteína llamada ALADIN. Se presenta un caso de un varón de 19 años, valorado con 10 años en nuestro servicio ante la sospecha de enfermedad de depósito. Presenta retraso mental leve y del lenguaje, voz hipernasal, neuropatía sensitivo-motora con afectación autonómica y semiología de paraparesia espástica. Alacrimia. Reflujo gastroesofágico y acalasia. El estudio molecular demostró 2 mutaciones, la p. Tyr 19 Cys no descrita, y la IVS14+1G-A(AU)
Allgrove syndrome (triple A) is a rare autosomal recessive disease. The classic triad includes, congenital adrenal insufficiency due to ACTH resistance, achalasia of the cardia and alacrimia. Neurological abnormalities are associated with autonomic neuropathy, sensory and motor defects, deafness, mental retardation, Parkinsonism and dementia. The gene responsible is the ADRACALIN or AAAS encoding a protein called ALADIN. We report a case of a 19 year-old male, assessed when he was 10 years old in our department due to suspected storage disease. Mild mental and language retardation, hypernasal voice, sensory-motor neuropathy with autonomic involvement and signs of spastic paraparesis, alacrimia. gastroesophageal reflux, and achalasia. Molecular studies showed to mutations, the undescribed p.Tyr 19 Cys, and IVS14 +1 G(AU)
Assuntos
Humanos , Masculino , Adulto Jovem , Acalasia Esofágica/complicações , Paraparesia Espástica/complicações , Paraparesia Espástica/diagnóstico , Glucocorticoides/uso terapêutico , Receptores de Glucocorticoides , Eletrofisiologia/métodos , Neuropatias Diabéticas/complicações , Neuropatias Diabéticas/genética , Síndromes de Compressão Nervosa/complicações , Síndromes de Compressão Nervosa/genética , Neuropatia Hereditária Motora e Sensorial/patologiaRESUMO
Allgrove syndrome (triple A) is a rare autosomal recessive disease. The classic triad includes, congenital adrenal insufficiency due to ACTH resistance, achalasia of the cardia and alacrimia. Neurological abnormalities are associated with autonomic neuropathy, sensory and motor defects, deafness, mental retardation, Parkinsonism and dementia. The gene responsible is the ADRACALIN or AAAS encoding a protein called ALADIN. We report a case of a 19 year-old male, assessed when he was 10 years old in our department due to suspected storage disease. Mild mental and language retardation, hypernasal voice, sensory-motor neuropathy with autonomic involvement and signs of spastic paraparesis, alacrimia. gastroesophageal reflux, and achalasia. Molecular studies showed to mutations, the undescribed p.Tyr 19 Cys, and IVS14 +1 G.
Assuntos
Insuficiência Adrenal/genética , Acalasia Esofágica/genética , Mutação , Proteínas do Tecido Nervoso/genética , Complexo de Proteínas Formadoras de Poros Nucleares/genética , Humanos , Masculino , Fenótipo , Adulto JovemRESUMO
Introducción: El impacto diario del tratamiento de la DM1 en los aspectos psicosociales de los pacientes, demostrado científicamente, y la necesidad de un abordaje preventivo y educativo en los procesos de cuidado de esta enfermedad crónica llevan a considerar la importancia del estudio de la calidad de vida relacionada con la salud (CVRS) durante las etapas de la infancia y la adolescencia. Objetivos: a) Evaluar las dimensiones de la CVRS más afectadas por la enfermedad, y b) determinar su variación en función del período escolar, el sexo y el número de años de diagnóstico. Material y método: Estudio descriptivo de carácter aplicado. La muestra la constituyen 126 pacientes de 6 a 18 años con DM1, controlados en 4 hospitales públicos de Extremadura. El cuestionario de medida de la CVRS aplicado es la versión española del EQ-5D-Y.ResultadosLa dimensión más afectada para el total de la muestra es la ansiedad/depresión, con una diferencia significativa en el grupo de adolescentes (p=0,004). Conclusiones: Es necesario considerar la CVRS en la etapa de la adolescencia, poniendo especial atención al ámbito psicosocial en la propuesta de tratamiento y en el diseño de intervenciones educativas(AU)
Introduction: The daily impact of DM1 treatment on the psychological aspects of patients, scientifically proven, and the need for preventive and educational approaches in the care processes of this chronic disease, leads to consider the importance of studying the health-related quality of life (HRQOL) during the childhood and adolescence stages. Objectives: a) To assess the dimensions of HRQoL most affected by the disease, and b) to determine its variation as a function of the school year, sex and number of years from diagnosis. Material and method: An applied-descriptive study was used. The sample consisted of 126 patients from 6 to 18 years with type 1 diabetes, controlled in four public hospitals in Extremadura. The questionnaire measuring HRQoL is the Spanish version of EQ-5D-Y.ResultsThe most affected dimension for the total sample is anxiety/depression, with a significant difference in the adolescent group (P=0.004). Conclusions: It is necessary to consider the HRQOL assessment should be considered in adolescence, with special attention to the psychological aspects in the proposed treatment and design of educational interventions(AU)
Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto Jovem , Qualidade de Vida , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/epidemiologia , Inquéritos e Questionários , Diabetes Mellitus Tipo 1/psicologiaRESUMO
INTRODUCTION: The daily impact of DM1 treatment on the psychological aspects of patients, scientifically proven, and the need for preventive and educational approaches in the care processes of this chronic disease, leads to consider the importance of studying the health-related quality of life (HRQOL) during the childhood and adolescence stages. OBJECTIVES: a) To assess the dimensions of HRQoL most affected by the disease, and b) to determine its variation as a function of the school year, sex and number of years from diagnosis. MATERIAL AND METHOD: An applied-descriptive study was used. The sample consisted of 126 patients from 6 to 18 years with type 1 diabetes, controlled in four public hospitals in Extremadura. The questionnaire measuring HRQoL is the Spanish version of EQ-5D-Y. RESULTS: The most affected dimension for the total sample is anxiety/depression, with a significant difference in the adolescent group (P=.004). CONCLUSIONS: It is necessary to consider the HRQOL assessment should be considered in adolescence, with special attention to the psychological aspects in the proposed treatment and design of educational interventions.
Assuntos
Diabetes Mellitus Tipo 1 , Qualidade de Vida , Adolescente , Criança , Diabetes Mellitus Tipo 1/psicologia , Feminino , Humanos , MasculinoRESUMO
La enfermedad de Cushing (EC), debida fundamentalmente a un microadenoma hipofisario, es un cuadro clínico poco frecuente en la edad pediátrica y se asocia a una significativa morbilidad. La principal indicación terapéutica es la cirugía transesfenoidal, aunque se reserva el ketoconazol como alternativa terapéutica temporal durante el período de espera previo, a fin de controlar el hipercortisolismo. A continuación se presenta el caso de una niña de 13 años y 8 meses con EC. Sus manifestaciones clínicas eran obesidad, disminución de la velocidad del crecimiento, fenotipo cushingoide, cefaleas e hipertensión arterial. Las determinaciones hormonales pusieron de manifiesto valores elevados de cortisol libre urinario y de corticotropina (ACTH). El ritmo de cortisol y de ACTH así como el test corto y largo de dexametasona confirmaron un hipercortisolismo dependiente de ACTH. La resonancia magnética craneal con gadolinio mostró la presencia de microadenoma en hemiadenohipófisis derecha. El diagnóstico se confirmó tras realizar un cateterismo selectivo de senos petrosos inferiores con estímulo de corticoliberina. En espera de cirugía transesfenoidal, el tratamiento con ketoconazol (200mg/24h) durante 6 meses controló el cuadro de hipercortisolismo. Tras la adenomectomía transesfenoidal, recibió tratamiento sustitutivo con hidrocortisona durante un mes. En la actualidad, la niña lleva 2 años y medio en remisión clínica y hormonal sin cumplir los criterios iniciales posquirúrgicos de curación (AU)
Cushings disease (CD), which is caused fundamentally by a pituitary microadenoma, is a rare endocrine disease in the paediatric age and which is associated with significant morbidity. The current treatment of choice for CD is trans-sphenoidal selective adenomectomy resulting in long-term remission rates. Pharmacological management of CD is directed at decreasing adrenal steroid secretion. Ketoconazole inhibits adrenal enzyme activity and decreases cortisol secretion. Our patient is a girl of 13 years and eight months of age with CD. The clinical manifestations were obesity, decrease in growth rate, Cushingoid phenotype, headache and arterial hypertension. The hormone determinations showed elevated values of UFC and ACTH. The circadian rhythm cortisol and ACTH and the short and long dexamethasone tests of provide definitive diagnosis of CD. The cranial MRI with gadolinium suggests the presence of microadenoma in the right pituitary lobe. The diagnosis is confirmed after performing a selective catheterisation of the inferior petrosal sinuses with CRH stimulus. While waiting for trans-sphenoidal surgery, the treatment with ketoconazole (200mg/24h) controlled the hypercortisolism. After the surgical procedure, the patient received replacement therapy with hydrocortisone for 1 month. At the present time, the patient, without fulfilling the post surgery cure criteria, has been 2 and a half years in clinical and hormonal remission (AU)
Assuntos
Humanos , Feminino , Adolescente , Cetoconazol/farmacologia , Cetoconazol/uso terapêutico , Hipersecreção Hipofisária de ACTH/patologia , Adenoma Basófilo/patologia , Adenoma Basófilo/terapia , Seio Esfenoidal/cirurgia , Hidrocortisona/análise , Hidrocortisona/sangue , Hidrocortisona/urina , Dexametasona , Hormônio Adrenocorticotrópico/análise , Hormônio Adrenocorticotrópico/sangueRESUMO
Cushing's disease (CD), which is caused fundamentally by a pituitary microadenoma, is a rare endocrine disease in the paediatric age and which is associated with significant morbidity. The current treatment of choice for CD is trans-sphenoidal selective adenomectomy resulting in long-term remission rates. Pharmacological management of CD is directed at decreasing adrenal steroid secretion. Ketoconazole inhibits adrenal enzyme activity and decreases cortisol secretion. Our patient is a girl of 13 years and eight months of age with CD. The clinical manifestations were obesity, decrease in growth rate, Cushingoid phenotype, headache and arterial hypertension. The hormone determinations showed elevated values of UFC and ACTH. The circadian rhythm cortisol and ACTH and the short and long dexamethasone tests of provide definitive diagnosis of CD. The cranial MRI with gadolinium suggests the presence of microadenoma in the right pituitary lobe. The diagnosis is confirmed after performing a selective catheterisation of the inferior petrosal sinuses with CRH stimulus. While waiting for trans-sphenoidal surgery, the treatment with ketoconazole (200mg/24h) controlled the hypercortisolism. After the surgical procedure, the patient received replacement therapy with hydrocortisone for 1 month. At the present time, the patient, without fulfilling the post surgery cure criteria, has been 2 and a half years in clinical and hormonal remission.
Assuntos
Cetoconazol/uso terapêutico , Hipersecreção Hipofisária de ACTH/tratamento farmacológico , Adolescente , Feminino , HumanosRESUMO
Potato Y potyvirus (PVY) causes annual epidemics with 30 to 40% production losses in tomato crops of the Canary Islands in autumn. Two strains of the virus were diagnosed: PVY-0 and PVY-N. To identify hosts in areas where the virus is prevalent, and to establish the role of weeds in the epidemiology of this virus and its vector, plants were collected, chosen randomly and by viruslike symptom expression. Eighty-two samples of 30 plant species were tested for PVY-0 and PVY-N by double antibody sandwich enzyme-linked immunosorbent assay (DAS-ELISA) with commercial antibodies made against PVY (INGENASA, Madrid), PVY-0/C (ADGEN, Auchincruive, UK), and PVY-N (BIOREBA, Reinach, Switzerland). Twenty-five weed species were found to be infected with PVY-0 and 12 plants were identified as new hosts (1) including the following: Argyranthemum gracile, Calendula arvensis, Convolvulus althaeoides, Foeniculum vulgare, Forsskaolea angustifolia, Hedypnois cretica, Hirschfeldia incana, Malva parviflora, Patellifolia patellaris, Sonchus oleraceus, Urospermum picroides, and Lavandula canariensis. Argyranthemum gracile and Lavandula canariensis were hosts only of PVY-N strain. References: (1) J. R. Edwarson. Fla. Agric. Exp. Stn. Monog. 5:96, 1974.