RESUMO
Mutations in the TGFßR2 gene have been associated with a life threatening risk of aortic dissection but no arrhythmic death has been previously reported. Two young females carrying a TGFßR2 mutation, initially diagnosed as Marfan syndrome or Loeys Dietz syndrome, presented sudden death with autopsy ruling out dissection. The ECGs of the 2 Sudden Cardiac Deaths revealed profound ventricular repolarization abnormalities with a sinusoidal T-U morphology associated with normal left ventricular ejection fraction. These data strongly suggest sudden cardiac arrhythmic deaths and prompted us to systematically study the repolarization pattern in the patients with TGFßR2 mutations. ECG findings from 58 mutation carriers patients (TGFßR2 group) were compared with those of 46 non-affected first degree relatives (control group). TGFßR2 mutation was associated with ventricular repolarization abnormalities in 47% of patients (p < 0.001 vs. controls), including a 19.6 ms (95%CI 8.7; 30.5) QTc interval prolongation compared to the non-affected first degree relatives (p < 0.001), higher prevalence of abnormal U waves (16% vs. 2%), and sinusoidal T-U morphology (10% vs. 0%). TGFßR2 mutations can be associated with abnormal ventricular repolarization pattern, longer QT interval than non-carrier relatives and an increased risk for sudden death.
Assuntos
Arritmias Cardíacas/complicações , Arritmias Cardíacas/genética , Morte Súbita Cardíaca/etiologia , Mutação , Receptor do Fator de Crescimento Transformador beta Tipo II/genética , Adolescente , Eletrocardiografia , Feminino , Humanos , Adulto JovemAssuntos
Oftalmopatias/induzido quimicamente , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Doença Arterial Periférica/induzido quimicamente , Pirimidinas/efeitos adversos , Xantomatose/induzido quimicamente , Oftalmopatias/diagnóstico por imagem , Humanos , Leucemia Mielogênica Crônica BCR-ABL Positiva/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Doença Arterial Periférica/diagnóstico por imagem , Pirimidinas/administração & dosagem , Radiografia , Xantomatose/diagnóstico por imagemAssuntos
Fosfatase Alcalina/genética , Cárie Dentária/genética , Triagem de Portadores Genéticos , Hipofosfatasia/genética , Mutação , Doenças Dentárias/genética , Adulto , Fosfatase Alcalina/sangue , Fosfatase Alcalina/deficiência , Animais , Células COS , Linhagem Celular , Criança , Pré-Escolar , Chlorocebus aethiops , Cárie Dentária/sangue , Cárie Dentária/enzimologia , Feminino , Humanos , Hipofosfatasia/sangue , Hipofosfatasia/enzimologia , Masculino , Modelos Moleculares , Mutagênese Sítio-Dirigida/genética , Mutação de Sentido Incorreto/genética , Especificidade de Órgãos/genética , Linhagem , Estrutura Quaternária de Proteína/genética , Doenças Dentárias/sangue , Doenças Dentárias/enzimologiaRESUMO
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia. Sixteen distinct mutations were found, fifteen of them not previously reported: M45V, G46R, 388-391delGTAA, 389delT, T131I, G145S, D172E, 662delG, G203A, R255L, 876-881delAGGGGA, 962delG, E294K, E435K, and A451T. This confirms that severe hypophosphatasia is due to a large spectrum of mutations in Caucasian populations.
Assuntos
Fosfatase Alcalina/genética , Hipofosfatasia/enzimologia , Hipofosfatasia/genética , Mutação , Feminino , Humanos , Hipofosfatasia/diagnóstico , Recém-Nascido , Masculino , Triagem Neonatal , Gravidez , Diagnóstico Pré-NatalRESUMO
The results of this study, conducted in 25 patients without myocardial infarction, showed that all the biologic markers of myocardial infarction, except the highly cardiospecific cardiac troponin I, increased in some patients after electrical cardioversion. These results allow us to conclude that electrical cardioversion, even preceded by a mechanical resuscitation of short duration, does not result in myocardial damage, and that cardiac troponin I is more accurate than creatine kinase-MB activity and creatine kinase-MB mass determination for the diagnosis of myocardial damage in patients who have undergone electrical cardioversion.
Assuntos
Cardioversão Elétrica/efeitos adversos , Cardiopatias/enzimologia , Miocárdio/enzimologia , Mioglobina/sangue , Troponina I/sangue , Idoso , Análise de Variância , Biomarcadores/sangue , Creatina Quinase/sangue , Cardiopatias/terapia , Humanos , Isoenzimas , L-Lactato Desidrogenase/sangue , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/sangue , Infarto do Miocárdio/diagnóstico , Fatores de TempoRESUMO
Bone and joint infections due to Haemophilus parainfluenzae are unusual. We describe a case of hematogenous vertebral osteomyelitis caused by this commensal microorganism of nose and oropharynx. Early diagnosis and therapy were possible within a week using sensitive radiologic methods: technetium bone scanning, computed tomography and magnetic resonance imaging.
