RESUMEN
Hyperlipidemia is an important risk factor for atherosclerosis and is frequently seen in patients with erectile dysfunction (ED). This study was designed to evaluate whether the acute effect of native low-density lipoprotein (nLDL) on intracavernosal pressure (ICP) is reversible and related to plasma asymmetrical dimethylarginine (ADMA), endogenous inhibition of endothelial nitric oxide synthase (eNOS) levels and eNOS expression in cavernous tissues. Hyperlipidemia was induced by a single dose of intravenous 4 mg kg-1 nLDL. Experiments were performed 72 h (72H), 2 weeks (2W) and 8 weeks (8W) after nLDL injection. Endothelium-dependent relaxations, the ratio of ICP to mean arterial pressure (MAP; ICP/MAP), plasma ADMA levels and eNOS mRNA and protein levels were evaluated. The ICP/MAP ratio decreased in both the 2W and 8W groups. Endothelium-dependent relaxation responses to acetylcholine in the rat thoracic aorta were damaged in the 8W group. Plasma ADMA levels increased in the 8W group. mRNA expression of eNOS decreased in a time-dependent manner, whereas the protein expression increased. These results suggest that acute nLDL injection-induced impairments in erectile functions during an 8-week period are irreversible and might be related to an increase in ADMA levels and changes in the regulation of the eNOS/NO pathway.
Asunto(s)
Arginina/análogos & derivados , Endotelio Vascular/fisiopatología , Disfunción Eréctil/etiología , Lipoproteínas LDL/efectos adversos , Óxido Nítrico Sintasa de Tipo III/metabolismo , Animales , Arginina/sangre , Modelos Animales de Enfermedad , Disfunción Eréctil/sangre , Disfunción Eréctil/fisiopatología , Hiperlipidemias/complicaciones , Lipoproteínas LDL/sangre , Masculino , Ratas Wistar , Factores de TiempoRESUMEN
Isochromosome 18p is a rare chromosomal disorder that occurs with a frequency of approximately one in every 180,000 live births, and affects both genders equally. MOst cases result from a de novo formation. In the literature, there are currently only a small number of reports that describe the phenotypic and clinical features of Isochromosome 18p. In this article, we report six cases that displayed the phenotypic and clinical features of Isochromosome 18p, and which were subsequently confirmed by conventional karyotyping and fluorescence in situ hybridization. We also discuss the clinical features of these patients in the context of the cases previously reported in the literature.
Asunto(s)
Aneuploidia , Trastornos de los Cromosomas , Isocromosomas , Niño , Preescolar , Trastornos de los Cromosomas/genética , Trastornos de los Cromosomas/patología , Trastornos de los Cromosomas/fisiopatología , Cromosomas Humanos Par 18 , Femenino , Humanos , Lactante , MasculinoRESUMEN
The clinical, radiologic, histopathologic, and genetic features of a sclerosing bone dysplasia found in three members of a family are described. The bone disorder affected all metaphyseal-diaphyseal regions of all long bones, the skull, and three metacarpals. All affected members also had ichthyosis vulgaris and premature ovarian failure. These features have not been reported before, indicating a new syndrome.
