RESUMO
Introducción: La enfermedad de moyamoya es una enfermedad estenooclusiva progresiva de las principales arterias intracraneales. Los individuos afectados corren el riesgo de sufrir un accidente cerebrovascular hemorrágico o isquémico intracraneal, deterioro cognitivo y retrasos en el desarrollo. Se han identificado varios genes de susceptibilidad. La variante p.R4810K en el gen RNF213 se ha identificado en el 95% de los pacientes con enfermedad de moyamoya familiar. Caso clínico: Presentamos el caso de una adolescente de 15 años que se presentó con quejas principales de disgrafía y falta de coordinación en la mano derecha con dos meses de evolución. La resonancia magnética cerebral reveló varias lesiones isquémicas con diferentes ritmos de evolución y la angiorresonancia magnética mostró múltiples estenosis suboclusivas. En el estudio de las secuencias de las regiones codificantes y de las regiones intrónicas flanqueantes (±8 pb) del gen RNF213, se detectó la variante c.12185G>A, p.(Arg4062Gln) en heterocigosidad en el gen RNF213. Este resultado indica que la paciente es heterocigota para la variante c.12185G>A, p.(Arg4062Gln) en el gen RNF213. La variante detectada ya ha sido descrita en la bibliografía como una variante fundadora en la población asiática, asociada a síndrome de moyamoya. Esta variante está descrita en ClinVar como una variante de significado clínico desconocido. Además, no está descrita en las bases de datos poblacionales (dbSNP, ESP y gnomAD). Conclusión: Hasta donde sabemos, la variante p.(Arg4062Gln) se ha notificado en tres pacientes japoneses con enfermedad de moyamoya y en uno europeo. Por lo tanto, nuestro paciente fue el segundo europeo con enfermedad de moyamoya con esta variante identificada.(AU)
Introduction: Moyamoya disease is a progressive steno-occlusive disease of the major intracranial arteries. Affected individuals are at risk for intracranial hemorrhagic or ischemic stroke, cognitive impairment, and developmental delays. Several susceptibility genes have been identified. The p.R4810K variant in the RNF213 gene has been identified in 95% of patients with familial moyamoya disease. Case report: We present the case of a 15-year-old adolescent girl who presented with chief complaints of dysgraphia, lack of coordination in the right hand, with two months of evolution. Cerebral magnetic resonance imaging revealed several ischemic lesions with different rates of evolution and magnetic resonance angiography showed multiple subocclusive stenoses. In the study of the sequences of the coding regions and intronic flanking regions (±8 bp) of the RNF213 gene, the variant c.12185G>A, p.(Arg4062Gln) was detected in heterozygosity in the RNF213 gene. This result indicates that the patient is heterozygous for the c.12185G>A, p.(Arg4062Gln) variant in the RNF213 gene. The detected variant has already been reported in the literature as a founder variant in the Asian population, associated with moyamoya syndrome. This variant is described in ClinVar as a variant of unknown clinical significance? Furthermore, it is not described in population databases (dbSNP, ESP, gnomAD). Conclusion: To our knowledge, the p.(Arg406262Gln) variant has been reported in three Japanese moyamoya disease patients and one European. Therefore, our patient was the second European moyamoya disease patient with this variant identified.(AU)
Assuntos
Humanos , Masculino , Adolescente , Doença de Moyamoya , Variação Genética , Arteriopatias Oclusivas , Angiografia por Ressonância Magnética , Bases de Dados Genéticas , Neurologia , Doenças do Sistema NervosoRESUMO
INTRODUCTION: Moyamoya disease is a progressive steno-occlusive disease of the major intracranial arteries. Affected individuals are at risk for intracranial hemorrhagic or ischemic stroke, cognitive impairment, and developmental delays. Several susceptibility genes have been identified. The p.R4810K variant in the RNF213 gene has been identified in 95% of patients with familial moyamoya disease. CASE REPORT: We present the case of a 15-year-old adolescent girl who presented with chief complaints of dysgraphia, lack of coordination in the right hand, with two months of evolution. Cerebral magnetic resonance imaging revealed several ischemic lesions with different rates of evolution and magnetic resonance angiography showed multiple subocclusive stenoses. In the study of the sequences of the coding regions and intronic flanking regions (±8 bp) of the RNF213 gene, the variant c.12185G>A, p.(Arg4062Gln) was detected in heterozygosity in the RNF213 gene. This result indicates that the patient is heterozygous for the c.12185G>A, p.(Arg4062Gln) variant in the RNF213 gene. The detected variant has already been reported in the literature as a founder variant in the Asian population, associated with moyamoya syndrome. This variant is described in ClinVar as a variant of unknown clinical significance? Furthermore, it is not described in population databases (dbSNP, ESP, gnomAD). CONCLUSION: To our knowledge, the p.(Arg406262Gln) variant has been reported in three Japanese moyamoya disease patients and one European. Therefore, our patient was the second European moyamoya disease patient with this variant identified.
TITLE: Variante rara de RNF213 en adolescente con enfermedad de moyamoya.Introducción. La enfermedad de moyamoya es una enfermedad estenooclusiva progresiva de las principales arterias intracraneales. Los individuos afectados corren el riesgo de sufrir un accidente cerebrovascular hemorrágico o isquémico intracraneal, deterioro cognitivo y retrasos en el desarrollo. Se han identificado varios genes de susceptibilidad. La variante p.R4810K en el gen RNF213 se ha identificado en el 95% de los pacientes con enfermedad de moyamoya familiar. Caso clínico. Presentamos el caso de una adolescente de 15 años que se presentó con quejas principales de disgrafía y falta de coordinación en la mano derecha con dos meses de evolución. La resonancia magnética cerebral reveló varias lesiones isquémicas con diferentes ritmos de evolución y la angiorresonancia magnética mostró múltiples estenosis suboclusivas. En el estudio de las secuencias de las regiones codificantes y de las regiones intrónicas flanqueantes (±8 pb) del gen RNF213, se detectó la variante c.12185G>A, p.(Arg4062Gln) en heterocigosidad en el gen RNF213. Este resultado indica que la paciente es heterocigota para la variante c.12185G>A, p.(Arg4062Gln) en el gen RNF213. La variante detectada ya ha sido descrita en la bibliografía como una variante fundadora en la población asiática, asociada a síndrome de moyamoya. Esta variante está descrita en ClinVar como una variante de significado clínico desconocido. Además, no está descrita en las bases de datos poblacionales (dbSNP, ESP y gnomAD). Conclusión. Hasta donde sabemos, la variante p.(Arg4062Gln) se ha notificado en tres pacientes japoneses con enfermedad de moyamoya y en uno europeo. Por lo tanto, nuestro paciente fue el segundo europeo con enfermedad de moyamoya con esta variante identificada.
Assuntos
Doença de Moyamoya , Feminino , Humanos , Adolescente , Doença de Moyamoya/diagnóstico por imagem , Doença de Moyamoya/genética , Doença de Moyamoya/complicações , Predisposição Genética para Doença , Fatores de Transcrição/genética , Angiografia por Ressonância Magnética , Ubiquitina-Proteína Ligases/genética , Adenosina Trifosfatases/genéticaRESUMO
TITLE: Dolor torácico y paraplejía de aparición súbita: un caso de infarto medular.
Assuntos
Dor no Peito/etiologia , Infarto/complicações , Paraplegia/etiologia , Medula Espinal/irrigação sanguínea , Criança , Feminino , HumanosRESUMO
TITLE: Asociación genotipo-fenotipo en un niño con neurofibromatosis tipo 1.
Assuntos
Estudos de Associação Genética , Neurofibromatose 1/genética , Criança , Humanos , MasculinoRESUMO
No disponible
Assuntos
Humanos , Masculino , Criança , Meningite Viral/diagnóstico , Herpes Zoster/complicações , Imunocompetência , Meningite Viral/etiologia , Meningite Viral/patologia , Aciclovir/administração & dosagem , Diagnóstico PrecoceRESUMO
TITLE: Mielitis transversa parainfecciosa aguda con radiculitis en una niña con disrafismo espinal cerrado.
Assuntos
Infecções por Campylobacter/complicações , Campylobacter jejuni , Mielite Transversa/microbiologia , Radiculopatia/microbiologia , Disrafismo Espinal/complicações , Doença Aguda , Humanos , LactenteRESUMO
TITLE: Distonia temprana poco frecuente (DYT16) en una niña portuguesa.
Assuntos
Distúrbios Distônicos/genética , Mutação de Sentido Incorreto , Mutação Puntual , Proteínas de Ligação a RNA/genética , Idade de Início , Brasil/etnologia , Criança , Consanguinidade , Progressão da Doença , Éxons/genética , Feminino , Homozigoto , Humanos , PortugalAssuntos
Aciclovir/administração & dosagem , Antivirais/administração & dosagem , Herpesvirus Humano 3/isolamento & purificação , Meningite/tratamento farmacológico , Criança , Cefaleia/etiologia , Humanos , Masculino , Meningite/líquido cefalorraquidiano , Meningite/virologia , Portugal , Vômito/etiologiaRESUMO
Disclosure of the diagnosis of cancer to the patients affected has always been a controversial issue in the doctor-patient relationship. Undoubtedly this is so not only because of differences between countries and cultures, but also because there have been changes of opinion over the years. The aim of this study was to evaluate the quality and quantity of information desired by Portuguese cancer patients, and how and from whom they want to hear this information. Our sample comprised a total of 193 cancer patients, 87 men and 106 women. We found that 68.9% knew what their diagnosis was. In our sample, 74% wanted "as much information as possible, good or bad"; 85% said they wanted to know if their disease was cancer; 95% wanted to know the best or worst likely outcome of their disease; and 96.4% wanted to know the chances of getting cured. Most patients said they would prefer to be informed by physicians (92.7%) and have access to a telephone help-line, books and television. In conclusion, most patients wanted to know as much as possible about their illness and treatment, and the majority preferred to be involved in treatment decisions.