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1.
Rev Neurol ; 77(10): 249-252, 2023 11 16.
Artigo em Espanhol | MEDLINE | ID: mdl-37962536

RESUMO

INTRODUCTION: Given the immaturity of the newborn, neonatal seizures are a diagnostic challenge. Most of them are secondary to an acute event. A small percentage constitute the onset of epilepsy. AIMS: The aim was to analyse neonates with a diagnosis of seizures admitted to a tertiary hospital between November 2009 and May 2021, and their subsequent progression to epilepsy. MATERIAL AND METHODS: A retrospective observational study was carried out using the hospital database. Information was collected on neonates with a discharge diagnosis of 'seizures' or 'moderate or severe hypoxic-ischaemic encephalopathy'. Different variables were analysed: aetiology of the seizures, type, persistence over time, treatment and electroclinical correlates. RESULTS: Of 165 patients, 55 presented neonatal seizures. As regards aetiology, 43 patients (78%) had seizures secondary to an acute event, of which 19 (34%) were hypoxic-ischaemic encephalopathies, and 22 (40%) had other acute disorders. Genetic alteration was found in six of them (11%). Thirteen patients (24%) progressed to subsequent epilepsy, of whom seven had symptomatic epilepsy, with a period of latency after the acute event in two patients. Six patients had neonatal epilepsy with unprovoked seizures. Twenty-two (62%) showed electroclinical correlates. All of the confirmed crises (100%) were focal. All the seizures were treated. The drug of choice was phenobarbital. CONCLUSIONS: Diagnosis of neonatal seizures requires high clinical suspicion and electroclinical confirmation. Most of them progress favourably, but a percentage constitute the onset of epilepsy, the identification of which will determine their therapeutic management.


TITLE: Crisis neonatales y evolución a epilepsia en un hospital de tercer nivel.Introducción. Las convulsiones neonatales son un reto diagnóstico, dada la inmadurez del recién nacido. La mayoría son secundarias a un evento agudo. Un pequeño porcentaje constituye el inicio de una epilepsia. Objetivos. Analizar a los neonatos ingresados en un hospital de tercer nivel con diagnóstico de crisis entre noviembre de 2009 y mayo de 2021, y su evolución posterior a epilepsia. Material y métodos. Se ha realizado un estudio observacional retrospectivo utilizando la base de datos del hospital. Se ha recogido la información de los neonatos con diagnóstico en el alta de 'convulsiones' o 'encefalopatía hipóxico-isquémica moderada o grave'. Se analizaron distintas variables: etiología de las crisis, tipo, persistencia temporal, tratamiento y correlato electroclínico. Resultados. De 165 pacientes, 55 presentaron crisis neonatales. En cuanto a la etiología, 43 pacientes (78%) tuvieron crisis secundarias a un evento agudo, de las cuales 19 (34%) fueron encefalopatías hipóxico-isquémicas, y 22 (40%), otras alteraciones agudas. En seis (11%) se encontró alteración genética. Trece pacientes (24%) evolucionaron a una epilepsia posterior, de los cuales siete presentaron una epilepsia sintomática, con un período de latencia tras el evento agudo en dos pacientes. Seis pacientes tuvieron epilepsia neonatal con crisis no provocadas. Veintidós (62%) mostraron correlato electroclínico. El 100% de las crisis confirmadas fueron focales. Todas las crisis se trataron. El fármaco de elección fue el fenobarbital. Conclusiones. El diagnóstico de convulsiones neonatales requiere una alta sospecha clínica y una confirmación electroclínica. La mayoría tiene evolución favorable, pero un porcentaje constituye el inicio de una epilepsia, cuya identificación determinará su manejo terapéutico.


Assuntos
Epilepsia , Hipóxia-Isquemia Encefálica , Recém-Nascido , Humanos , Centros de Atenção Terciária , Epilepsia/etiologia , Convulsões/etiologia , Afeto , Hospitalização , Hipóxia-Isquemia Encefálica/complicações
3.
Pediatr. aten. prim ; 24(93)ene. - mar. 2022. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-210307

RESUMO

Introducción: existe consenso en la necesidad de realizar un cribado predeportivo, aunque con enormes diferencias en cuanto a protocolos. El objetivo de nuestro estudio es conocer el estado de los reconocimientos predeportivos en niños, conocer la prevalencia de anomalías cardiovasculares y valorar la utilidad del electrocardiograma (ECG). Pacientes y métodos: estudio descriptivo transversal. Durante dos años se realizó el reconocimiento médico propuesto por la Guía Clínica de Evaluación Cardiovascular previa a la práctica deportiva en Pediatría en las revisiones de niños mayores de seis años, incluyendo anamnesis, exploración física y electrocardiograma. Resultados: se incluyeron 691 niños. El 62,5% realizaba deporte extraescolar con una mediana de 3 horas por semana (2-4,5). El 52,2% de los niños estaban federados. Existen diferencias en las horas de práctica deportiva y la edad entre niños federados y no federados (p <0,001). En los federados se realizó reconocimiento en el 68,1% y un ECG en el 19%, existiendo diferencias significativas entre los distintos tipos de deportes (p <0,001). El 13% de los niños estudiados presentaban antecedentes familiares de cardiopatía. El 3,5% de los ECG realizados fueron patológicos precisando valoración por Cardiología Pediátrica. El 6,6% de los niños con antecedentes familiares de cardiopatía y el 3% de los niños sin antecedentes necesitaron seguimiento cardiológico. Conclusiones: en la mayoría de los reconocimientos deportivos de nuestro medio no se incluye ECG. Investigar en profundidad los antecedentes familiares de cardiopatía es importante (AU)


Introduction: there is consensus on the need to perform pre-sport screening, although with enormous differences in terms of protocols. The objective of our study is to know the status of pre-sport screenings in children, to know the prevalence of cardiovascular abnormalities and to assess the usefulness of the electrocardiogram (ECG).Patients and methods: descriptive cross-sectional study. For two years, the medical screening proposed by the Clinical Guide for Cardiovascular Evaluation prior to sports practice in pediatrics was carried out in the check-ups of children older than 6 years, including anamnesis, physical examination and electrocardiogram.Results: 691 children were included. 62.5% did extracurricular sports with a median of 3 hours per week (2-4.5). 52.2% of the children were federated. There are differences in the hours of sports practice and age between federated and non-federated children (p <0.001). In federated, recognition was performed in 68.1% and ECG in 19%, with significant differences between the different types of sports (p <0.001). 13% of the children studied had a family history of heart disease. 3.5% of the ECGs performed were pathological, requiring evaluation by pediatric cardiology. 6.6% of the children with a family history of heart disease and 3% of the children without a history required cardiac follow-up.Conclusions: ECG is not included in most of the sports examinations in our environment. Investigating family history of heart disease is important. (AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Anormalidades Cardiovasculares/diagnóstico , Morte Súbita Cardíaca/prevenção & controle , Eletrocardiografia , Esportes Juvenis , Estudos Transversais
4.
Bol. pediatr ; 62(260): 103-110, 2022. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-213412

RESUMO

Antecedentes y objetivos. La COVID-19 es una enfermedad producida por el virus SARS-CoV-2. En España,entre el mes de marzo y junio de 2020 se declaró el primer Estado de Alarma con el fin de contener la pandemia.Nuestro objetivo es evaluar la demanda asistencial y lasenfermedades que acudieron a Urgencias Pediátricas y quefueron ingresadas durante el tiempo que duró el primer Estado de Alarma, comparando con los mismos meses delos años 2018 y 2019.Resultados. Existe una reducción del número de ingresosde 345 a 141, un incremento de la complejidad demostrada por una mayor duración de los ingresos hasta 7,3±12,4 días(6,2±8,6 días en 2018 y 4,8±6,9 en 2019). Las enfermedades infecciosas (principalmente las respiratorias) descendieron, permaneciendo estables los ingresos por neoplasias, patología psiquiátrica, apendicitis y enfermedades circulatorias. EnUrgencias Pediátricas, en los años 2018 y 2019 (de 1 marzoa 30 junio) se atendieron 9.075 y 8.525 pacientes, mientras que en el 2020 se atendieron 2.215, aumentando el porcentajede ingresos procedentes de urgencias del 3,6% y 3,4% al 6%en 2020. Las enfermedades que aumentaron de forma más importante fueron las lesiones traumáticas y las intoxicaciones. Tanto en los ingresos como en urgencias existe unincremento en la edad de los pacientes. Conclusiones. El Estado de Alarma influyó en la presión asistencial y en el tipo de enfermedades atendidas enel Servicio de Pediatría, con una disminución del número de Urgencias y de ingresos, un incremento de la edad y unamodificación del tipo de enfermedades atendidas.


Introduction and objectives. COVID-19 is a disease caused by the SARS-CoV-2 virus. In Spain, between March and June 2020, the first State of Alarm was declared in order to contain the pandemic. Our objective is to evaluate the health care demand and the diseases that came to the Pediatric Emergency Department and were admitted during the time that the first State of Alarm lasted, comparing with the same months of the years 2018 and 2019.Results. There is a reduction in the number of admissions from 345 to 141, an increase in complexity demonstrated by a longer duration of admissions to 7.3±12.4 days (6.2 ± 8.6 days in 2018 and 4, 8±6.9 in 2019). Infectious diseases (mainly respiratory) decreased, with admissions for neoplasms, psychiatric pathology, appendicitis and circulatory diseases remaining stable. In Pediatric Emergencies, in the years 2018 and 2019 (from March 1 to June 30), 9,075 and 8,525 patients were attended, while in 2020, 2,215 were attended, increasing the percentage of admissions from the emergency room of 3.6% and 3.4% to 6% in 2020. The diseases that increased most significantly were traumatic injuries and poisonings. Both in admissions and in emergencies there is an increase in the age of the patients. Conclusions. The State of Alarm influenced the care pressure and the type of diseases treated in the Pediatric Service, with a decrease in the number of Emergencies and admissions, an increase in age and a modification of the type of diseases treated (AU)


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Necessidades e Demandas de Serviços de Saúde/estatística & dados numéricos , Cuidado da Criança/provisão & distribuição , Infecções por Coronavirus/epidemiologia , Pneumonia Viral/epidemiologia , Pandemias , Estudos Retrospectivos , Espanha/epidemiologia
5.
Bol. pediatr ; 62(260): 150-154, 2022. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-213417

RESUMO

Introducción. La hipertensión pulmonar en pediatríasuele presentarse con una clínica inespecífica que hace difícilsu sospecha diagnóstica, siendo hasta en el 30% de los casosde etiología multifactorial.Caso clínico. Presentamos el caso de una lactante de2 meses de edad que comienza con clínica inespecífica(vómitos, rechazo de tomas, irritabilidad), presentando unempeoramiento progresivo que termina en varias paradascardiorrespiratorias abortadas. En el estudio diagnósticoúnicamente se encuentra una hipertensión pulmonar grave que no responde a tratamiento vasodilatador agresivo.Además, muestra hiperecogenicidad periventricular condesarrollo de edema cerebral progresivo, que termina conla vida de la paciente. El estudio metabólico muestra elevación de glicina en líquidos biológicos; y el estudio genético confirma una variante patogénica en homocigosis en elgen NFU1 (NM_001002755.3:c.622G>T, p.Gly208Cys), por loque se diagnostica de síndrome de disfunción mitocondrialmúltiple tipo 1.Conclusiones. El síndrome de disfunción mitocondrialmúltiple tipo 1 es una enfermedad autosómica recesiva conuna prevalencia <1/1.000.000, que afecta al metabolismomitocondrial por alteración del gen NFU1. La clínica comienza en las primeras etapas de la vida por síntomas inespecíficos, neurológicos e hipertensión pulmonar, con un cursomortal a los pocos meses de edad. Destaca un aumento deglicina y lactato en líquidos biológicos; una leucoencefalopatía periventricular con degeneración quística, cavitacionesy/o necrosis. El diagnóstico de las enfermedades metabólicasprecisa de una alta sospecha clínica. El curso rápidamenteprogresivo y refractario al tratamiento de una hipertensiónpulmonar que asocia clínica encefalopática, debe hacernossospechar una alteración en el metabolismo mitocondrial. (AU)


Introduction. Pulmonary hypertension in children usually presents with non-specific symptoms that makes thesuspicion difficult, being up to 30% of cases of multifactorialetiology.Clinical case. We present the case of a 2-month-old infantwho began with nonspecific symptoms, presenting a progressive worsening that results in aborted cardiorespiratoryarrest. The diagnostic work-up only shows a severe pulmonary hypertension that does not respond to aggressivevasodilator therapy. In addition, the patient has periventricular hyperechogenicity with progressive cerebral edema,causing the patient’s death. The metabolic study shows elevation of glycine in biological fluids; and the genetic study confirmed a homozygous pathogenic variant in the NFU1gene (NM_001002755.3:c.622G>T, p.Gly208Cys), leading tothe diagnosis of type 1 multiple mitochondrial dysfunctionsyndrome.Conclusion. Multiple mitochondrial dysfunction syndrome type 1 is an autosomal recessive disease with a prevalence <1/1,000,000, which affects mitochondrial metabolismdue to alterations in the NFU1 gene. The clinic begins in theearly stages of life presenting with nonspecific symptoms,neurological symptoms and pulmonary hypertension; witha fatal course in all cases. An increase in glycine and lactate in biological fluids is characteristic; it is also typical tofind a periventricular leukoencephalopathy with chemicaldegeneration, cavitations and/or necrosis. The diagnosisof metabolic disorders requires a high clinical suspicion. Asevere pulmonary hypertension associated with encephalopathy should lead us to suspect an alteration in mitochondrial metabolism (AU)


Assuntos
Humanos , Feminino , Lactente , Hipertensão Pulmonar/diagnóstico , Mitocôndrias Cardíacas/genética , Proteínas Mitocondriais/genética , Mutação/genética , Síndrome
6.
Clin Genet ; 92(1): 91-98, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28067412

RESUMO

Processing of Precursor 1 (POP1) is a large protein common to the ribonuclease-mitochondrial RNA processing (RNase-MRP) and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the assembly or stability of both complexes. Numerous RMRP mutations have been reported in individuals with cartilage-hair hypoplasia (CHH) but, to date, only three POP1 mutations have been described in two families with features similar to anauxetic dysplasia (AD). We present two further individuals, one with severe short stature and a relatively mild skeletal dysplasia and another in whom AD was suspected. Biallelic POP1 mutations were identified in both. A missense mutation and a novel single base deletion were detected in proband 1, p.[Pro582Ser]:[Glu870fs*5]. Markedly reduced abundance of RMRP and elevated levels of pre5.8s rRNA was observed. In proband 2, a homozygous novel POP1 mutation was identified, p.[(Asp511Tyr)];[(Asp511Tyr)]. These two individuals show the phenotypic extremes in the clinical presentation of POP1-dysplasias. Although CHH and other skeletal dysplasias caused by mutations in RMRP or POP1 are commonly cited as ribosomal biogenesis disorders, recent studies question this assumption. We discuss the past and present knowledge about the function of the RMRP complex in skeletal development.


Assuntos
Proteínas Reguladoras de Apoptose/genética , Nanismo/genética , Predisposição Genética para Doença , Anormalidades Musculoesqueléticas/genética , Osteocondrodisplasias/genética , Ribonucleoproteínas/genética , Criança , Pré-Escolar , Nanismo/diagnóstico por imagem , Nanismo/fisiopatologia , Feminino , Homozigoto , Humanos , Masculino , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Anormalidades Musculoesqueléticas/fisiopatologia , Mutação de Sentido Incorreto/genética , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/fisiopatologia , Fenótipo , RNA Longo não Codificante/genética
7.
Bol. pediatr ; 57(242): 311-314, 2017.
Artigo em Espanhol | IBECS | ID: ibc-172065

RESUMO

Introducción: El sangrado vaginal como causa de anemia grave no es frecuente en la edad pediátrica, pero cuando aparece suele ser secundario a una hemorragia uterina disfuncional. El tratamiento del mismo tiene como objetivo el establecimiento y/o mantenimiento de la estabilidad hemodinámica del paciente. La situación actual en España establece que toda actuación en el ámbito de la salud de un paciente necesita el consentimiento libre y voluntario del afectado, siendo necesario el consentimiento por representación por varias razones, de las que destacamos que el paciente sea menor de edad y no sea capaz intelectual ni emocionalmente de comprender el alcance de la intervención. El consentimiento informado por representación debe adoptarse atendiendo siempre al mayor beneficio para la vida o salud del paciente. Caso clínico. Presentamos un caso de sangrado vaginal con una hemoglobina de 5 g/L, en una niña de 13 años que rechaza la transfusión sanguínea por creencias religiosas. Ante la anemia grave y la negativa de la paciente y de los padres a administrar la transfusión, se decide como primera medida la administración de líquidos intravenosos y aporte de hierro intravenoso, solicitando autorización judicial para, en caso de fracaso del tratamiento inicial, poder trasfundir concentrado de hematíes, situación que no se produce dada su repuesta favorable. Conclusiones. La buena evolución de la paciente nos permite concluir que ante una causa que imposibilite la transfusión sanguínea se puede administrar hierro intravenoso con buena repuesta


Introduction: Vaginal bleeding as a cause of severe anemia is not frequent in the pediatric age. However when it appears, it is generally secondary to dysfunction uterine bleeding. The objective of its treatment is to establish and/ or maintain the hemodynamic stability of the patient. The current situation in Spain establishes that all action within the health care setting of a patient requires free and voluntary consent of the patient, consent by representation being necessary for several reasons, standing out among them that the patient is a minor and is not intellectually or emotional capable of understanding the scope of the intervention. Informed consent by representation should always be adopted considering the best benefit for the patient's life or health. Clinical case. We present a case of vaginal bleeding with 5 g/L hemoglobin in a 13-year old girl who rejected blood transfusion due to religious beliefs. In view of the severe anemia and rejection by the patient and her parents to administer the transfusion, it was decided as a first step to administer intravenous fluids and intravenous iron supply and to request court authorization in case of initial treatment failure to be able to make a concentration red blood cell transfusion, a situation which did not occur given her favorable response. Conclusions. The good evolution of the patient allowed us to conclude that when it is not possible to perform a blood transfusion, intravenous iron can be administered with good response


Assuntos
Humanos , Feminino , Adolescente , Anemia/complicações , Hemorragia Uterina/diagnóstico , Hemorragia Uterina/etiologia , Transfusão de Sangue/métodos , Ferro/uso terapêutico , Atenção Primária à Saúde , Hemorragia Uterina/sangue , Testemunhas de Jeová , Infusões Intravenosas , Transfusão Feto-Materna
9.
Allergol. immunopatol ; 44(1): 32-40, ene.-feb. 2016. tab
Artigo em Inglês | IBECS | ID: ibc-147481

RESUMO

BACKGROUND: Allergy and autoimmunity are important immunological entities underlying chronic diseases in children. In some cases both entities develop simultaneously in the same patient. FOXP3 gene codes for a transcription factor involved in regulation of the immune system. Considering that regulatory T cells are involved in controlling immunological disease development, and the relevant role of FOXP3 in this kind of T cells, the objective of this study was to analyse the FOXP3gene in the most prevalent autoimmune diseases and/or allergies in childhood in a European population. METHODS: A total of 255 Caucasian individuals, 95 controls and 160 patients diagnosed with allergic, autoimmune or both diseases were included in this study. The molecular analysis of FOXP3 was performed by DNA sequencing following the recommendations for quality of the European Molecular Genetics Quality Network. Genomic DNA was extracted from peripheral blood of all participants and was amplified using the polymerase chain reaction. After the visualisation of the amplified fragments by agarose gel-electrophoresis, they were sequenced. RESULTS: Thirteen different polymorphisms in FOXP3 gene were found, seven of which had not been previously described. The mutated allele of SNP 7340C>T was observed more frequently in the group of male children suffering from both allergic and autoimmune diseases simultaneously (p = 0.004, OR = 16.2 [1.34-195.15]). CONCLUSIONS: In this study we identified for first time genetic variants of FOXP3 that are significantly more frequent in children who share allergic and autoimmune diseases. These variants mainly affect regulatory sequences that could alter the expression levels of FOXP3 modifying its function including its role in Treg cells


No disponible


Assuntos
Criança , Humanos , Fatores de Transcrição Forkhead , Fatores de Transcrição Forkhead/imunologia , Autoimunidade/imunologia , Asma/imunologia , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/imunologia , Dessensibilização Imunológica/métodos , Técnicas Imunológicas/métodos , Polimorfismo Genético/imunologia , Estudos de Casos e Controles , Análise Citogenética/métodos
11.
Allergol Immunopathol (Madr) ; 44(1): 32-40, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-25982578

RESUMO

BACKGROUND: Allergy and autoimmunity are important immunological entities underlying chronic diseases in children. In some cases both entities develop simultaneously in the same patient. FOXP3 gene codes for a transcription factor involved in regulation of the immune system. Considering that regulatory T cells are involved in controlling immunological disease development, and the relevant role of FOXP3 in this kind of T cells, the objective of this study was to analyse the FOXP3 gene in the most prevalent autoimmune diseases and/or allergies in childhood in a European population. METHODS: A total of 255 Caucasian individuals, 95 controls and 160 patients diagnosed with allergic, autoimmune or both diseases were included in this study. The molecular analysis of FOXP3 was performed by DNA sequencing following the recommendations for quality of the European Molecular Genetics Quality Network. Genomic DNA was extracted from peripheral blood of all participants and was amplified using the polymerase chain reaction. After the visualisation of the amplified fragments by agarose gel-electrophoresis, they were sequenced. RESULTS: Thirteen different polymorphisms in FOXP3 gene were found, seven of which had not been previously described. The mutated allele of SNP 7340C>T was observed more frequently in the group of male children suffering from both allergic and autoimmune diseases simultaneously (p=0.004, OR=16.2 [1.34-195.15]). CONCLUSIONS: In this study we identified for first time genetic variants of FOXP3 that are significantly more frequent in children who share allergic and autoimmune diseases. These variants mainly affect regulatory sequences that could alter the expression levels of FOXP3 modifying its function including its role in Treg cells.


Assuntos
Doenças Autoimunes/imunologia , Fatores de Transcrição Forkhead/metabolismo , Hipersensibilidade/imunologia , Linfócitos T Reguladores/fisiologia , População Branca , Adulto , Idoso , Animais , Análise Mutacional de DNA , Feminino , Fatores de Transcrição Forkhead/genética , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Espanha
12.
Acta pediatr. esp ; 73(7): e183-e190, jul. 2015.
Artigo em Espanhol | IBECS | ID: ibc-141902

RESUMO

La neoplasia endocrina múltiple tipo 2A se caracteriza por la presencia de cáncer medular de tiroides, feocromocitoma e hiperparatiroidismo. Se debe a una mutación germinal del protooncogén RET situado en el cromosoma 10. Presentamos el caso de un niño de 5 años de edad, asintomático, con antecedentes familiares de cáncer medular de tiroides y mutación en el codón 634 del protooncogén RET, en el que se realizó un estudio genético que confirmó la misma mutación. Se encontraba asintomático, con niveles normales de calcio, paratohormona, calcitonina, función tiroidea, ecografía tiroidea y catecolaminas. Se realizó una tiroidectomía total profiláctica, sin que el paciente presentara complicaciones durante ni después de la cirugía, y sin otras manifestaciones del síndrome hasta ahora. Todos los casos de mutación en el gen RET precisan la realización de una tiroidectomía total profiláctica, para evitar el desarrollo del cáncer medular de tiroides. Se recomienda efectuar un seguimiento posquirúrgico de los pacientes por las posibles complicaciones derivadas de la cirugía, así como de la función tiroidea por el riesgo de aparición de hiperparatiroidismo y feocromocitoma (AU)


The multiple endocrine neoplasia type 2A is characterized by the presence of medullary thyroid cancer, pheochromocytoma and hyperparathyroidism. Is due to a germline mutation in the RET proto-oncogene located on chromosome 10. We report the case of an asymptomatic 5 year old, with family history of medullary thyroid cancer and mutation at codon 634 of the RET proto-oncogene. In his genetic study was confirmed the same mutation. He was asymptomatic, with levels of calcium, parathyroid hormone, calcitonin, catecholamines, thyroid function and thyroid ultrasound all of them normal. Prophylactic total thyroidectomy was made without complications during or after surgery and without other manifestations of the syndrome until now. All cases of mutation in the RET gene need prophylactic total thyroidectomy to prevent the development of medullary thyroid cancer. Monitoring of post-surgical complications, thyroid function and risk of hyperparathyroidism and pheochromocytoma is recommended (AU)


Assuntos
Pré-Escolar , Humanos , Masculino , Tireoidectomia/instrumentação , Neoplasia Endócrina Múltipla Tipo 2a/congênito , Neoplasias da Glândula Tireoide/congênito , Tiroxina/uso terapêutico , Neoplasia Endócrina Múltipla Tipo 2a/prevenção & controle , Neoplasias da Glândula Tireoide/prevenção & controle
14.
Fisioterapia (Madr., Ed. impr.) ; 30(5): 251-257, sept.-oct. 2008. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-61212

RESUMO

El síndrome metabólico es hoy un problema de salud pública. Incluye diferentes grados de hipertensión, intolerancia a la glucosa, resistencia a la insulina, dislipemia aterogénica, obesidad central, a los que se asocian estados proinflamatorios y protrombóticos. Presenta una prevalencia muy alta y creciente; se asocia a estilos de vida poco saludables. Su diagnóstico implica aumentar en 5 veces el riesgo de tener diabetes mellitus tipo 2 y en 2-3 veces el de enfermedad cardiovascular. El diagnóstico clínico es simple y su tratamiento no farmacológico debiera indicarse en todos los pacientes. Falta información sobre el impacto en el riesgo cardiovascular, del uso de fármacos que reducen la resistencia a la insulina (glitazonas) y del efecto de los tratamientos combinados para las dislipemias aterogénicas. La morbilidad y la mortalidad prematuras que acarrea son extraordinariamente costosas. Es necesario prevenir, con el fomento de hábitos saludables de vida (dieta adecuada al gasto calórico y la práctica regular de ejercicio físico)(AU)


The metabolic syndrome is turning into one of the principal problems of public health ofthe 21st century. This term is used to indicate that clinical situation that includes differentdegrees of hypertension, intolerance to the glucose, resistance to the insulin, dislipidemiaaterogenic, central obesity with that conditions are associated proinflamatory andprotrombotics. The metabolic syndrome is presented by a very high and increasingprevalencia, which is associated with slightly healthy ways of life. The diagnosis implies increasing in 5 times the risk of suffering diabetes type 2 and in 2 or 3 times that ofcardiovascular disease. The clinical diagnosis is simple and his treatment not pharmacologistmust be indicated in all the patients. The constitutive patology of the syndrome musttreat integrally. Nevertheless, still lacking information about the impact in thecardiovascular risk, of the use of medicaments that reduce the resistance to the insulinand of the effect of the therapies combined for the own dislipidemias aterogenics of theSyndrome. The premature morbidity and mortality that it transports might unbalance thesanitary budget of many developed countries or in routes of development. A prevention isnecessary orientated to fomenting healthy habits of life, such as a diet adapted to thecaloric expense, and the regular practice of physical exercise(AU)


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Síndrome Metabólica/epidemiologia , Síndrome Metabólica/reabilitação , Doenças Cardiovasculares/embriologia , Doenças Cardiovasculares/prevenção & controle , Exercício Físico/fisiologia , Fatores de Risco , Estilo de Vida , Lipoproteínas LDL/análise , Esforço Físico/fisiologia
15.
Bol. pediatr ; 47(199): 55-61, 2007. ilus, tab
Artigo em Es | IBECS | ID: ibc-051806

RESUMO

Objetivos: analizar las características clínicas, epidemiológicas y los factores que pueden predecir lesión esofágica en la población infantil que ingresó en nuestro hospital por ingestión de cáusticos. Material y métodos: se realiza un estudio retrospectivo de los pacientes que requirieron ingreso por ingestión cáustica en los últimos 6 años. Se recogen distintas variables de la historia clínica entre las que destacamos, edad, sexo, tipo de cáustico, pH del líquido, sintomatología, tiempo de evolución y realización de la endoscopia. Resultados: desde el año 2000 hasta el tercer trimestre del 2006 fueron ingresados en nuestro Hospital 35 niños con la sospecha de haber ingerido una sustancia cáustica. De ellos 19 eran varones y 16 eran mujeres. La edad media fue de 2,6 años. Diez de los pacientes venían derivados de hospitales de otras provincias. Los cáusticos ingeridos fueron lejía (40,0%), amoniaco (17,1%), sosa (11,4%) y lavavajillas industrial (11,4%). El 42,9% de los casos los familiares realizaron procedimientos que pueden agravar la lesión. Los síntomas más frecuentes fueron vómitos (11 pacientes), heridas en los labios (8 pacientes), lesiones en la mucosa geniana (9 pacientes), quemaduras en la lengua (12 pacientes). Se indicó la endoscopia en 23 pacientes, que se llevó a cabo a las 31,5 horas de media tras la ingestión. En el 26,3% de las endoscopias se objetivó lesión esofágica(tipo 2a, 10,5% y tipo 2b, 15,8%). Los cáusticos más agresivos fueron la sosa, el amoniaco, y el lavavajillas industrial. Se observa una tendencia a encontrar relación entre el número de síntomas presentes y la probabilidad de lesión endoscópica. Conclusiones: la lejía es el agente cáustico más implicado en este tipo de accidente. La sosa, el amoniaco y el lavavajillas industrial son los líquidos más peligrosos. Los familiares todavía siguen realizando procedimientos inadecuados tras la ingestión. El mejor tratamiento es una buena prevención (AU)


Objectives: analyze the clinical, epidemiological characteristics and the factors that may predict esophageal injuries in the child population admitted to our hospital due to intake of caustics. Material and methods: a retrospective study was done of the patients who required admission due to caustic intake in the last six years. Different variables were collected from the clinical history, the following standing out among them: age, gender, type of caustics, pH of the liquid, symptoms, evolution time and conduction of endoscopy. Results: since the year 2000 until the third quarter of 2006, 35 children were admitted to our hospital with the suspicion of having ingested a caustic substance. Of them,19 were male and 16 female. Mean age was 2.6 years. Ten of the patients had been referred from hospitals of other provinces. The caustics ingested were bleach (40.0%), ammonium (17.1%), soda (11.4%) and industrial dishwasher soap (11.4%). In 42.9% of the cases, the families rejected procedures that could worsen the injury. The most frequent symptoms were vomiting (11 patients), lip wounds (8 patients), genian mucosal lesions (9 patients), burns under tongue (12 patients). Endoscopy was indicated in 23 patients, that was carried out at a mean of 31.5 hours after intake. In 26,3 of the endoscopes, esophageal injuries were observed (type 2a 10.5% and type 2b 15.8%). The most aggressive caustics were soda, ammonium and industrial dishwashing soap. A tendency was observed to find a relationship between the number of symptoms present and the likelihood of an endoscopic lesion. Conclusions: bleach is the caustic agent most involved in this type of accident. Soda, ammonium and industrial dishwashing soap are the most dangerous liquids. Family members are continuing to perform inadequate procedures after intake. The best treatment is a good preventive one (AU)


Assuntos
Masculino , Feminino , Lactente , Pré-Escolar , Criança , Humanos , Acidentes Domésticos/estatística & dados numéricos , Cáusticos/efeitos adversos , Esôfago/lesões , Estudos Retrospectivos , Espanha/epidemiologia
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