RESUMO
We report on 2 brothers with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and hypothalamo-pituitary insufficiency. Both had hypogonadotropic hypogonadism. One brother had partial TSH and prolactin deficiency, and the other had mild primary hypothyroidism, due most probably to irradiation therapy which he had undergone a few years earlier because of Hodgkin disease. The association of hypogonadotropic hypogonadism with EEC was reported once previously. Hypothalamopituitary dysfunction could be considered as yet another manifestation of EEC syndrome. This report reconfirms that EEC syndrome is a pleiotropic trait with reduced penetrance. Alternatively, we may be dealing with a (new) autosomal or X-linked recessive condition.
Assuntos
Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Displasia Ectodérmica/complicações , Displasia Ectodérmica/diagnóstico , Deformidades Congênitas do Pé/diagnóstico , Deformidades Congênitas da Mão/diagnóstico , Sistema Hipotálamo-Hipofisário/anormalidades , Adolescente , Adulto , Encéfalo/diagnóstico por imagem , Aberrações Cromossômicas/diagnóstico , Transtornos Cromossômicos , Humanos , Hipogonadismo/complicações , Hipogonadismo/diagnóstico , Hipotireoidismo/complicações , Hipotireoidismo/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Prolactina/deficiência , Radiografia , Aberrações dos Cromossomos Sexuais/diagnóstico , Síndrome , Tireotropina/deficiênciaRESUMO
We examined five members of a highly inbred kinship who had isolated microphthalmia associated with colobomatous cysts and various other ocular lesions. They were all offspring of consanguineous (first cousins) and unaffected parents. Microphthalmia in this kindred was transmitted as an autosomal recessive trait. Ultrasonography was effective for prenatal diagnosis in two pregnancies at risk.
Assuntos
Coloboma/genética , Cistos/genética , Microftalmia/genética , Órbita/anormalidades , Criança , Coloboma/diagnóstico , Consanguinidade , Cistos/diagnóstico , Feminino , Doenças Fetais/diagnóstico , Humanos , Recém-Nascido , Masculino , Microftalmia/diagnóstico , Linhagem , Gravidez , Diagnóstico Pré-Natal , Tomografia Computadorizada por Raios XRESUMO
Genetic disorders of the osseous skeleton constitute a challenging area of differential diagnosis. Three patients, 2 girls and 1 boy, were referred to our pediatric rheumatology clinic because of progressive stiffness of their hands and flexion contractures of fingers, accompanied by additional musculoskeletal changes. One of the girls had been diagnosed in early childhood as having juvenile rheumatoid arthritis, the other was suspected to have scleroderma, and the boy had been labelled with "Hurler's syndrome." On evaluation, all 3 patients had the clinical and roentgenographic features of mucolipidosis III; the diagnosis of mucolipidosis III was confirmed by enzymatic assays. We call for an awareness of pediatricians, rheumatologists and orthopedic surgeons to the "rheumatological" presentation of mucolipidosis III. The establishment of a precise diagnosis will lead to adequate management and will allow appropriate genetic counseling.
Assuntos
Mucolipidoses/diagnóstico , Doenças Reumáticas/diagnóstico , Artrografia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Mãos/patologia , Articulação do Quadril/diagnóstico por imagem , Humanos , Masculino , Mucolipidoses/genética , Linhagem , Coluna Vertebral/diagnóstico por imagemRESUMO
Although cardiac tamponade is a known complication of malignancy, it is rarely the initial manifestation. We report a 46-year-old male who presented with malignant cardiac tamponade 6 months prior to the definitive diagnosis of primary pericardial mesothelioma. A thorough literature search has not revealed a similar care.
Assuntos
Tamponamento Cardíaco/etiologia , Neoplasias Cardíacas/complicações , Mesotelioma/complicações , Ecocardiografia , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Mesotelioma/diagnóstico , Mesotelioma/patologia , Pessoa de Meia-Idade , Pericárdio , Tomografia Computadorizada por Raios XRESUMO
During the Lebanon War, 1982, over 80% of the wounded were sent from the triage area of the hospital directly to the radiology department. This article reports changes in the working pattern and organization of the department that were instituted for emergency treatment in wartime, and describes radiological examination methods for different organs. Computerized tomography is emerging as the most important diagnostic tool in addition to conventional radiological examinations.
Assuntos
Departamentos Hospitalares , Medicina Militar , Serviço Hospitalar de Radiologia , Guerra , Ferimentos e Lesões/diagnóstico por imagem , Traumatismos Abdominais/diagnóstico por imagem , Humanos , Líbano , Radiografia Torácica , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Carvedilol has improved the symptomatic status of patients with moderate to severe heart failure in single-center studies, but its clinical effects have not been evaluated in large, multicenter trials. METHODS AND RESULTS: We enrolled 278 patients with moderate to severe heart failure (6-minute walk distance, 150 to 450 m) and a left ventricular ejection fraction < or = 0.35 at 31 centers. After an open-label, run-in period, each patient was randomly assigned (double-blind) to either placebo (n = 145) or carvedilol (n = 133; target dose, 25 to 50 mg BID) for 6 months, while background therapy with digoxin, diuretics, and an ACE inhibitor remained constant. Compared with placebo, patients in the carvedilol group had a greater frequency of symptomatic improvement and lower risk of clinical deterioration, as evaluated by changes in the NYHA functional class (P = .014) or by a global assessment of progress judged either by the patient (P = .002) or by the physician (P < .001). In addition, treatment with carvedilol was associated with a significant increase in ejection fraction (P < .001) and a significant decrease in the combined risk of morbidity and mortality (P = .029). In contrast, carvedilol therapy had little effect on indirect measures of patient benefit, including changes in exercise tolerance or quality-of-life scores. The effects of the drug were similar in patients with ischemic heart disease or idiopathic dilated cardiomyopathy as the cause of heart failure. CONCLUSIONS: These findings indicate that, in addition to its favorable effects on survival, carvedilol produces important clinical benefits in patients with moderate to severe heart failure treated with digoxin, diuretics, and an ACE inhibitor.
Assuntos
Antagonistas Adrenérgicos beta/uso terapêutico , Carbazóis/uso terapêutico , Baixo Débito Cardíaco/tratamento farmacológico , Propanolaminas/uso terapêutico , Antagonistas Adrenérgicos beta/efeitos adversos , Idoso , Carbazóis/efeitos adversos , Baixo Débito Cardíaco/mortalidade , Baixo Débito Cardíaco/fisiopatologia , Carvedilol , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Morbidade , Placebos , Propanolaminas/efeitos adversos , Fatores de Risco , Índice de Gravidade de Doença , Volume Sistólico/efeitos dos fármacos , Resultado do TratamentoRESUMO
Diagnostic radiology in wartime: During the Lebanon war, 1982, over 80 percent of the wounded were sent from the triage area of the hospital directly to the radiology department. This article reports chances in the working pattern and organization of the department that were instituted for emergency treatment in wartime and describes radiological examinations methods for different organs. Computarized tomography is emerging as the most important diagnostic tool in addition to conventional radiological examinations (AU)