Muestra la distribución de disciplinas para esta publicación.
Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.
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| Año | 2009 | ||||||
| Tipo | artículo de investigación |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15(15q11-q13), often due to deletions or uniparental disomy. The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism. We present a 17 year-old woman, with a previous genetic diagnosis of Prader-Willi syndrome and BMI of 74 Kg/m(2), that was admitted in anasarca, with marked cyanosis, dyspnea and oliguria. She presented high levels of blood urea, creatinine and aminotransferases, in addition to hyperkalemia and hyperuricemia. She had been in regular use of fluoxetine during the last six months, and evolved with severe high blood pressure and respiratory failure, which needed intensive care support. Moreover, sequels and clear signs of recent self-injuries were observed in her trunk, forearms and bands. The findings of morbid obesity, anasarca, self-injury, hyperuricemia and hypoxemia in Prader-Willi syndrome are emphasized (Rev Med Chile 2009; 137: 264-8).
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | dos Santos, VM | Hombre |
Catholic Univ Med Course - Brasil
HFA - Brasil Catholic University - Brasil Armed Forces Hospital (HFA) - Brasil |
| 1 | Santos, Vitorino Modesto dos | Hombre |
Catholic University - Brasil
Armed Forces Hospital (HFA) - Brasil Hospital das Forças Armadas, Brasília - Brasil HFA - Brasil Catholic Univ Med Course - Brasil |
| 2 | de Paula, Fernando Henrique | Hombre |
HFA - Brasil
Armed Forces Hospital (HFA) - Brasil |
| 2 | Henrique de Paula, Fernando | Hombre |
Armed Forces Hospital (HFA) - Brasil
Hospital das Forças Armadas, Brasília - Brasil HFA - Brasil |
| 2 | Paula, Fernando Henrique de | Hombre |
Hospital das Forças Armadas, Brasília - Brasil
Armed Forces Hospital (HFA) - Brasil |
| 3 | Cintra Osterne, Ernesto Misael | Hombre |
HFA - Brasil
Armed Forces Hospital (HFA) - Brasil |
| 3 | Osterne, Ernesto Misael Cintra | Hombre |
Armed Forces Hospital (HFA) - Brasil
Hospital das Forças Armadas, Brasília - Brasil HFA - Brasil |
| 4 | Nery, Natalia Solon | Mujer |
HFA - Brasil
Armed Forces Hospital (HFA) - Brasil Hospital das Forças Armadas, Brasília - Brasil |
| 5 | Turra, Thiago Zavascki | - |
HFA - Brasil
Armed Forces Hospital (HFA) - Brasil Hospital das Forças Armadas, Brasília - Brasil |