RESUMO
A 30-year-old female patient with 12 weeks of gestation was admitted to our hospital due to dizziness and amaurosis fugax. Moreover, 24 h Holter monitoring showed paroxysmal atrioventricular block (P-AVB) and ventricular arrest. The heart block in the patient was likely a vagally mediated heart block based on the "vagal score." She was not given a pacemaker, and the symptoms and AV nodal conduction were improved following the delivery.
Assuntos
Bloqueio Atrioventricular , Marca-Passo Artificial , Adulto , Bloqueio Atrioventricular/complicações , Bloqueio Atrioventricular/diagnóstico , Bloqueio Atrioventricular/terapia , Nó Atrioventricular , Eletrocardiografia , Feminino , Humanos , Gravidez , GestantesRESUMO
A recent study has shown that FBXO7 is a causative gene for PARK15-linked autosomal recessive early-onset Parkinsonism which was described by Davison for the first time in 1954 and known as Pallido-Pyramidal Disease or Parkinsonia-Pyramidal Syndrome in the past. In order to investigate the characteristics of FBXO7 gene mutations in Chinese early-onset Parkinsonism patients, we performed polymerase chain reaction and DNA direct sequencing on 135 patients and 200 controls. In this study, we found 10 polymorphisms including two novel polymorphisms (-274G-->C, c.A155G), but no pathogenetic mutations in the FBXO7 gene were detected. This suggests that FBXO7 mutations may be rare in Chinese early-onset Parkinsonism patients.
Assuntos
Proteínas F-Box/genética , Transtornos Parkinsonianos/genética , Adulto , Idade de Início , Povo Asiático , China , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Mutação , Polimorfismo GenéticoRESUMO
Early-onset familial Alzheimer's disease (EOFAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent. Here we report a novel PSEN1 mutation in a Chinese family with autosomal dominant Alzheimer's disease with an onset age in the early 40s. Molecular genetic analysis showed a 507-509delATC mutation at codon 169, leading to the deletion of serine in residue 169 (Ser169del). The amnestic presentation and absence of other features contrast with the other two mutations at codon 169 which have been associated with myoclonic jerks and seizures.
