RESUMEN
A 45-year-old woman with short stature and primary amenorrhoea was admitted during a health-screening programme. Physical examination revealed a shortness of proximal legs and arms, short stature and other clinical properties of achondroplasia. Secondary sexual characteristics assessment showed axillary hair stage 5, breast stage 4 and pubic hair stage 5 (Tanner staging). Chromosomal analysis showed a 46XX karyotype. Skeletal X-ray showed small iliac wings and narrow sciatic notches. On pelvic ultrasound examination, the uterus appeared infantile and the ovaries were not visualized. Physical examination and laboratory parameters revealed a diagnosis of hypergonadotrophic hypogonadism. To the authors' knowledge, this is the first case of achondroplasia with gonadal dysgenesis discussed in the literature.
Asunto(s)
Acondroplasia/complicaciones , Disgenesia Gonadal/complicaciones , Amenorrea/complicaciones , Estatura , Femenino , Hormonas/sangre , Humanos , Persona de Mediana EdadRESUMEN
OBJECTIVE: The study was performed to investigate the level of serum cardiac troponin I (cTnI), a specific marker for myocardial cell damage, in the acute rheumatic carditis (RC). METHODS: Twenty seven consecutive patients with acute RC and 23 healthy children were enrolled. RESULT: cTnI level in both groups showed no statistical difference (p > 0.05). CONCLUSION: Serum cTnI level did not gain clinical use.
Asunto(s)
Cardiopatía Reumática/sangre , Troponina I/sangre , Biomarcadores/sangre , Niño , Preescolar , Creatina Quinasa/sangre , Humanos , Inmunoensayo/métodos , Mioglobina/análisis , Estudios ProspectivosRESUMEN
We have investigated the relationship between oxygen free radicals and acute rheumatic fever with regard to diagnosis of the disease process. At the time of diagnosis, we measured the levels of reactive oxygen molecules in the plasma, this being a parameter for oxygen free radicals, and discovered the levels to be significantly higher when compared with those measured in a control group (P<0.05). The levels measured in the plasma, however, were not statistically different among patients with and without carditis. We found a progressive decrease in the levels measured in the plasma when patients with acute rheumatic fever were tested on the 15th, 30th and 90th days subsequent to diagnosis. By the 90th day, levels measured in the plasma were still higher, but no longer significantly elevated, when compared with the control group. The present study is preliminary, but raises the possibility that measurement of oxygen free radicals in the plasma could be used as a laboratory test for active state of acute rheumatic fever. Further investigations will be needed, nonetheless, to determine the clinical application of this technique.