RESUMO
No disponible
Assuntos
Humanos , Artropatias/diagnóstico , Nefropatias Diabéticas/diagnóstico , Retinopatia Diabética/diagnóstico , Neuropatias Diabéticas/diagnóstico , Diabetes Mellitus Tipo 1/epidemiologia , Hipoglicemia/diagnóstico , Artropatias/epidemiologia , Nefropatias Diabéticas/epidemiologia , Retinopatia Diabética/epidemiologia , Neuropatias Diabéticas/epidemiologia , Doença Crônica , Incidência , Fatores de Tempo , Diabetes Mellitus Tipo 1/complicações , Hipoglicemia/epidemiologiaRESUMO
The XYY syndrome presents with a wide variation in the clinical features, both of the physical and behavioral nature. We report two new cases which illustrate this statement. The first case presented with aggressive behaviour and cryptorchidism. The second case was associated with pathological short height, pubertal delay and cardiac features (extrasystoles and short PR interval). We revise some of the aspects of XYY syndrome.
Assuntos
Aberrações dos Cromossomos Sexuais/genética , Cariótipo XYY/genética , Adolescente , Agressão , Estatura , Complexos Cardíacos Prematuros , Criança , Criptorquidismo , Humanos , Hipercinese , Masculino , Polimorfismo Genético , Puberdade Tardia , Aberrações dos Cromossomos Sexuais/fisiopatologia , Aberrações dos Cromossomos Sexuais/psicologia , SíndromeRESUMO
We report three patients presenting symptoms of tetany at eleven months, five years and seven years. They had hypocalcemia hypomagnesemia, hyperphosphatemia and elevated phosphate tubular reabsorption. PTH serum levels were decreased and cAMP urinary excretion was very low. Clinical and biological findings suggest hypoparathyroidism, but due to peculiar phenotype of one patient differential diagnosis is established.
Assuntos
Cálcio/análise , AMP Cíclico/urina , Hipoparatireoidismo/metabolismo , Magnésio/sangue , Fósforo/análise , Criança , Diagnóstico Diferencial , Feminino , Humanos , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/tratamento farmacológico , Lactente , Masculino , Hormônio Paratireóideo/deficiência , Hormônio Paratireóideo/uso terapêutico , Pseudo-Hipoparatireoidismo/diagnóstico , Vitamina D/uso terapêuticoRESUMO
A Von Willebrand's disease associated to Von Recklinghausen's disease is described. A an common alteration in the mesenchima is suggested as pathogenic mechanism. DDAVP was used as supportive treatment for bleeding, in preparation for surgery.
Assuntos
Neurofibromatose 1/complicações , Neoplasias Cutâneas/complicações , Doenças de von Willebrand/complicações , Vasos Sanguíneos/embriologia , Criança , Endotélio/embriologia , Feminino , Humanos , Neurofibromatose 1/embriologia , Neoplasias Cutâneas/embriologia , Estrabismo/complicações , Doenças de von Willebrand/embriologiaRESUMO
The endocrinological study of the cryptorchid testicle was carried out using a HCG and LH-RH tests to stimulate the hypophysis. Stimulation with LH-RH demonstrated a low hypophysis reserve in some cases which made suspect the presence of a hypo-stimulated testicle. One is led to believe in the heterogeneous nature of the endocrinological response.
Assuntos
Criptorquidismo/metabolismo , Hormônio Foliculoestimulante , Hormônio Luteinizante , Gonadotropina Coriônica/farmacologia , Criptorquidismo/diagnóstico , Humanos , Hipotálamo/fisiologia , Masculino , Hipófise/fisiologia , Estimulação Química , Testículo/fisiologiaRESUMO
A patient with precoucious puberty, caused by the secretion of ecthopic gonadotrophin, due to a teratoma of mediastinal localization accompanied by cellular immunodeficiency is described. A review of literature several cases have been from different hospitals, showing a low frequency of the intrathoratic localization of these teratomas and it is exceptional functional characteristics is made.
Assuntos
Gonadotropinas Hipofisárias/metabolismo , Neoplasias do Mediastino/metabolismo , Puberdade Precoce/etiologia , Teratoma/metabolismo , Criança , Humanos , Imunidade Celular , Masculino , Neoplasias do Mediastino/complicações , Neoplasias do Mediastino/imunologia , Teratoma/complicações , Teratoma/imunologiaRESUMO
Two patients affected with Alport's syndrome belonging respectively to two families with a high incidence of urinary, auditive and ocular symtoms, are described. The most relevant features are commented pointing out that Alport's syndrome could be a structural malformation of the whole or only one part of a type of colagen probably specific of the basal membrane of the glomerulus which could be more easily affected forming toxic metabolites. Finally a reference to the histologic study is made.
