RESUMO
Apolipoprotein E plays an important role in neurodegenerative processes in adulthood, whereas its neurodevelopmental role is uncertain. We aimed to study the effect of apolipoprotein E on neurodevelopment in a cohort liable to neurodevelopmental changes. The cohort consisted of very preterm (<32 gestational weeks) and/or very low birth weight (<1500 g) children, and the longitudinal follow-up protocol included sequential cranial ultrasounds during infancy, brain magnetic resonance imaging at term-equivalent age, neurological and cognitive assessment (Mental Developmental Index) at the corrected age of 2 years and cognitive and neuropsychological assessments (Wechsler Preschool and Primary Scale of Intelligence and Developmental NEuroPSYchological Assessment) at the chronological age of 5 years. Apolipoprotein E genotypes were determined from 322 children. Ultrasound and magnetic resonance imaging data were available for 321 (99.7%) and 151 (46.9%) children, respectively. Neurodevelopmental assessment data were available for 138 (42.9%) to 171 (53.1%) children. Abnormal findings in ultrasounds and magnetic resonance imaging were found in 163 (50.8%) and 64 (42.4%) children, respectively. Mild cognitive delay at the corrected age of 2 years and the chronological age of 5 years was suspected in 21 (12.3%) of 171 and 19 (13.8%) of 138 children, respectively. In the Developmental NEuroPSYchological Assessment, 47 (32.6%) of 144 children had significantly impaired performances in more than one study subtest. No associations between the apolipoprotein E genotypes and imaging findings or measured neurodevelopmental variables were found. Apolipoprotein E genotypes do not appear to have major impact on brain vulnerability or neurodevelopment in children.
Assuntos
Apolipoproteínas E/genética , Lesões Encefálicas/genética , Desenvolvimento Infantil , Transtornos Psicomotores/genética , Lesões Encefálicas/diagnóstico por imagem , Feminino , Genótipo , Humanos , Lactente Extremamente Prematuro , Recém-Nascido , Recém-Nascido de muito Baixo Peso , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Transtornos Psicomotores/diagnóstico por imagem , UltrassonografiaAssuntos
Agonistas de Dopamina/farmacologia , Agonistas de Dopamina/uso terapêutico , Indóis/farmacologia , Indóis/uso terapêutico , Mioclonia/etiologia , Mioclonia/prevenção & controle , Equilíbrio Postural/efeitos dos fármacos , Desempenho Psicomotor/efeitos dos fármacos , Síndrome de Unverricht-Lundborg/complicações , Síndrome de Unverricht-Lundborg/tratamento farmacológico , Adulto , Feminino , Humanos , Gravação de VideoteipeRESUMO
Blood blister-like aneurysms (BBAs) are among the most hazardous cerebrovascular aneurysms to treat; microsurgical treatment of these small, wide-necked, and exceptionally fragile aneurysms place patients at significant risk of morbidity or mortality. We report two cases of ruptured BBAs attempted to be treated for the first time with stent-assisted coil embolization solely and review the current literature on treatment options. Our patients underwent stent-assisted coil embolization of the aneurysms in the acute stage of subarachnoid hemorrhage (SAH). One patient was successfully treated without procedure-related complications. The other patient died after surgical internal carotid artery (ICA) occlusion, carried out after intraoperative rerupture of the aneurysm during the endovascular treatment. In the successful case, 8-month and 19-month follow-up angiograms demonstrated incomplete (>90%) occlusion with residual filling of the aneurysm neck, which did not need additional coil embolization. Even though stent-assisted coil embolization of ruptured BBAs in the acute stage appears to be a technically feasible treatment option, the present stent-related endovascular technology has potentially hazardous drawbacks.
Assuntos
Aneurisma Roto/terapia , Doenças das Artérias Carótidas/terapia , Embolização Terapêutica/métodos , Aneurisma Intracraniano/terapia , Stents , Hemorragia Subaracnóidea/terapia , Aneurisma Roto/complicações , Aneurisma Roto/diagnóstico , Angiografia Digital , Isquemia Encefálica/etiologia , Doenças das Artérias Carótidas/complicações , Doenças das Artérias Carótidas/diagnóstico , Artéria Carótida Interna/diagnóstico por imagem , Evolução Fatal , Feminino , Seguimentos , Humanos , Aneurisma Intracraniano/complicações , Aneurisma Intracraniano/diagnóstico , Complicações Intraoperatórias , Masculino , Pessoa de Meia-Idade , Ruptura Espontânea , Acidente Vascular Cerebral/etiologia , Hemorragia Subaracnóidea/diagnóstico , Hemorragia Subaracnóidea/etiologia , Resultado do TratamentoAssuntos
Osso Frontal/patologia , Hiperostose Frontal Interna/diagnóstico , Hiperostose Frontal Interna/genética , Síndrome de Unverricht-Lundborg/complicações , Adulto , Remodelação Óssea/genética , Catepsina K , Catepsinas/metabolismo , Cistatina B , Cistatinas/genética , Feminino , Osso Frontal/fisiopatologia , Humanos , Hiperostose Frontal Interna/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Mutação/genética , Síndrome de Unverricht-Lundborg/genética , Síndrome de Unverricht-Lundborg/fisiopatologiaRESUMO
AIMS: Neuroblastic tumours (NTs) have been shown to respond to imatinib treatment in vivo and in vitro, possibly via inactivating the c-kit receptor. The purpose of this study was to identify gastrointestinal stromal tumour (GIST)-type c-kit gene associated mutations in exons 9, 11, 13, and 17 in NTs to recognise a subset of tumours that would probably respond to imatinib treatment. METHODS: Expression of the c-kit protein was detected immunohistochemically in a total of 37 archival paraffin wax embedded NTs using polyclonal rabbit antihuman c-kit antibody. After immunohistochemistry, c-kit gene associated chromosomal mutations in all cases of NT were detected with denaturing high performance liquid chromatography (HPLC). RESULTS: Denaturing HLPC analysis did not reveal GIST-type mutations in four immunohistochemically detected c-kit positive or in 33 c-kit negative NTs. CONCLUSIONS: c-kit receptor expression and GIST-type c-kit gene mutations are rare events in NTs. Oncogenic activation of c-kit in NTs presumably differs from that of GISTs, which may influence their responsiveness to imatinib treatment. Whether c-kit has an essential role in the pathogenesis of NTs remains to be investigated.