RESUMEN
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.
Asunto(s)
Arritmias Cardíacas/complicaciones , Arritmias Cardíacas/genética , Muerte Súbita Cardíaca/etiología , Mutación , Receptor Tipo II de Factor de Crecimiento Transformador beta/genética , Adolescente , Electrocardiografía , Femenino , Humanos , Adulto JovenAsunto(s)
Oftalmopatías/inducido químicamente , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Enfermedad Arterial Periférica/inducido químicamente , Pirimidinas/efectos adversos , Xantomatosis/inducido químicamente , Oftalmopatías/diagnóstico por imagen , Humanos , Leucemia Mielógena Crónica BCR-ABL Positiva/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Enfermedad Arterial Periférica/diagnóstico por imagen , Pirimidinas/administración & dosificación , Radiografía , Xantomatosis/diagnóstico por imagenAsunto(s)
Fosfatasa Alcalina/genética , Caries Dental/genética , Tamización de Portadores Genéticos , Hipofosfatasia/genética , Mutación , Enfermedades Dentales/genética , Adulto , Fosfatasa Alcalina/sangre , Fosfatasa Alcalina/deficiencia , Animales , Células COS , Línea Celular , Niño , Preescolar , Chlorocebus aethiops , Caries Dental/sangre , Caries Dental/enzimología , Femenino , Humanos , Hipofosfatasia/sangre , Hipofosfatasia/enzimología , Masculino , Modelos Moleculares , Mutagénesis Sitio-Dirigida/genética , Mutación Missense/genética , Especificidad de Órganos/genética , Linaje , Estructura Cuaternaria de Proteína/genética , Enfermedades Dentales/sangre , Enfermedades Dentales/enzimologíaRESUMEN
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.
Asunto(s)
Fosfatasa Alcalina/genética , Hipofosfatasia/enzimología , Hipofosfatasia/genética , Mutación , Femenino , Humanos , Hipofosfatasia/diagnóstico , Recién Nacido , Masculino , Tamizaje Neonatal , Embarazo , Diagnóstico PrenatalRESUMEN
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.
Asunto(s)
Cardioversión Eléctrica/efectos adversos , Cardiopatías/enzimología , Miocardio/enzimología , Mioglobina/sangre , Troponina I/sangre , Anciano , Análisis de Varianza , Biomarcadores/sangre , Creatina Quinasa/sangre , Cardiopatías/terapia , Humanos , Isoenzimas , L-Lactato Deshidrogenasa/sangre , Masculino , Persona de Mediana Edad , Infarto del Miocardio/sangre , Infarto del Miocardio/diagnóstico , Factores de TiempoRESUMEN
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.