RESUMO
"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."
Assuntos
Insuficiência Cardíaca , Doença Crônica , Coração , HumanosRESUMO
"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."
Assuntos
Hormônio do Crescimento/sangue , Insuficiência Cardíaca/metabolismo , Resistência à Insulina , Doenças Metabólicas/etiologia , Testosterona/sangue , Hormônios Tireóideos/sangue , Biomarcadores/sangue , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/tratamento farmacológico , Terapia de Reposição Hormonal/métodos , Humanos , Doenças Metabólicas/tratamento farmacológico , Doenças Metabólicas/metabolismoRESUMO
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.
Assuntos
Braquidactilia/genética , Fatores de Transcrição Forkhead/genética , Trissomia/genética , Adulto , Cromossomos Humanos Par 6/genética , Feminino , Humanos , Lactente , Itália , Cariótipo , Ossos Metacarpais/anormalidades , Ossos do Metatarso/anormalidades , Pessoa de Meia-IdadeRESUMO
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.
Assuntos
Bloqueio Atrioventricular/induzido quimicamente , Dor/tratamento farmacológico , Pregabalina/efeitos adversos , Tuberculose do Sistema Nervoso Central/complicações , Bloqueio Atrioventricular/fisiopatologia , Bloqueadores dos Canais de Cálcio/administração & dosagem , Bloqueadores dos Canais de Cálcio/efeitos adversos , Bloqueadores dos Canais de Cálcio/uso terapêutico , Eletrocardiografia/instrumentação , Humanos , Masculino , Pregabalina/administração & dosagem , Pregabalina/uso terapêutico , Resultado do Tratamento , Tuberculose do Sistema Nervoso Central/diagnóstico por imagem , Tuberculose do Sistema Nervoso Central/tratamento farmacológico , Tuberculose do Sistema Nervoso Central/patologia , Adulto JovemRESUMO
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.