RESUMEN
"Chronic heart failure (CHF) is a complex syndrome characterized by symptoms and signs supported by different forms of cardiac impairment. The link between multiple hormonal and metabolic derangements and the development of CHF and the beneficial effects seen with hormonal replacement therapy suggest that a reduction of anabolic pathways might contribute to the onset of CHF. Therefore, an imbalance between anabolic and catabolic forces could be responsible for the development of CHF. There are sufficient evidence to support the screening in patients with CHF of hormonal deficiencies and their correction with replacement therapy."
Asunto(s)
Insuficiencia Cardíaca , Enfermedad Crónica , Corazón , HumanosRESUMEN
"Chronic heart failure (CHF) is a complex syndrome characterized by symptoms and signs supported by different forms of cardiac impairment. The link between multiple hormonal and metabolic derangements and the development of CHF and the beneficial effects seen with hormonal replacement therapy suggest that a reduction of anabolic pathways might contribute to the onset of CHF. Therefore, an imbalance between anabolic and catabolic forces could be responsible for the development of CHF. There are sufficient evidence to support the screening in patients with CHF of hormonal deficiencies and their correction with replacement therapy."
Asunto(s)
Hormona del Crecimiento/sangre , Insuficiencia Cardíaca/metabolismo , Resistencia a la Insulina , Enfermedades Metabólicas/etiología , Testosterona/sangre , Hormonas Tiroideas/sangre , Biomarcadores/sangre , Insuficiencia Cardíaca/complicaciones , Insuficiencia Cardíaca/tratamiento farmacológico , Terapia de Reemplazo de Hormonas/métodos , Humanos , Enfermedades Metabólicas/tratamiento farmacológico , Enfermedades Metabólicas/metabolismoRESUMEN
Brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Genetic causes of this anomaly are heterogeneous and only partially characterized. In this report we describe an Italian family in which four subjects share brachydactyly type E and a 3 Mb microduplication in region 6p25. The duplication involves the gene FOXC1, expressed during the osteoblast differentiation, which appears a potential candidate gene for brachydactyly.
Asunto(s)
Braquidactilia/genética , Factores de Transcripción Forkhead/genética , Trisomía/genética , Adulto , Cromosomas Humanos Par 6/genética , Femenino , Humanos , Lactante , Italia , Cariotipo , Huesos del Metacarpo/anomalías , Huesos Metatarsianos/anomalías , Persona de Mediana EdadRESUMEN
Pregabalin, widely used in the treatment of several pain disorders, is usually well tolerated. Uncommonly, the drug may induce cardiac side effects, rarely prolongation of the PR interval. The latter has never been described in patients with healthy heart or normal renal function. We characterize a unique case of a young man with extrapulmonary tuberculosis and no detectable or known cardiac or kidney diseases, treated with pregabalin to control the severe pain due to the involvement of the spinal cord by the tuberculosis, showing an atrioventricular (AV) block due to pregabalin administration. The reported case emphasizes the need of monitoring PR interval during treatment with pregabalin, even in patients without background of cardiac or renal diseases.
Asunto(s)
Bloqueo Atrioventricular/inducido químicamente , Dolor/tratamiento farmacológico , Pregabalina/efectos adversos , Tuberculosis del Sistema Nervioso Central/complicaciones , Bloqueo Atrioventricular/fisiopatología , Bloqueadores de los Canales de Calcio/administración & dosificación , Bloqueadores de los Canales de Calcio/efectos adversos , Bloqueadores de los Canales de Calcio/uso terapéutico , Electrocardiografía/instrumentación , Humanos , Masculino , Pregabalina/administración & dosificación , Pregabalina/uso terapéutico , Resultado del Tratamiento , Tuberculosis del Sistema Nervioso Central/diagnóstico por imagen , Tuberculosis del Sistema Nervioso Central/tratamiento farmacológico , Tuberculosis del Sistema Nervioso Central/patología , Adulto JovenRESUMEN
5q11.2 Deletion is a very rare genomic disorder, and its clinical phenotype has not yet been characterized. This report describes a patient with an 8.6 Mb deletion, showing hypotonia, mild developmental delay, short stature, and distinctive dysmorphic features (frontal bossing, square face, deep-set eyes, prominent columella, long philtrum, thin lips). © 2016 Wiley Periodicals, Inc.