RESUMO
Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma. Prognosis depends on the extent of leptomeningeal involvement and the severity of the glaucoma.
Assuntos
Síndrome de Sturge-Weber , Anticonvulsivantes/uso terapêutico , Dano Encefálico Crônico/etiologia , Dano Encefálico Crônico/prevenção & controle , Diagnóstico Precoce , Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP/genética , Glaucoma/tratamento farmacológico , Glaucoma/etiologia , Humanos , Lasers de Corante/uso terapêutico , Meninges/irrigação sanguínea , Meninges/embriologia , Meninges/patologia , Neuroimagem , Mancha Vinho do Porto/etiologia , Mancha Vinho do Porto/cirurgia , Convulsões/tratamento farmacológico , Convulsões/etiologia , Síndrome de Sturge-Weber/diagnóstico , Síndrome de Sturge-Weber/genética , Síndrome de Sturge-Weber/patologia , Síndrome de Sturge-Weber/terapia , Veias/embriologiaAssuntos
Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP/genética , Neoplasias de Tecido Vascular/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Neoplasias Cutâneas/genética , Biópsia , Pré-Escolar , Análise Mutacional de DNA , Exoma/genética , Feminino , Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP/metabolismo , Mutação com Ganho de Função , Humanos , Neoplasias de Tecido Vascular/diagnóstico , Neoplasias de Tecido Vascular/patologia , Proteínas Proto-Oncogênicas p21(ras)/metabolismo , Pele/irrigação sanguínea , Pele/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologiaRESUMO
BACKGROUND AND PURPOSE: Several radiologic features such as hematoma volume are related to poor outcome following an intracerebral hemorrhage and can be measured with transcranial duplex sonography. We sought to determine the prognostic value of transcranial duplex sonography in patients with intracerebral hemorrhage. MATERIALS AND METHODS: We conducted a prospective study of patients diagnosed with spontaneous intracerebral hemorrhage. Transcranial duplex sonography examinations were performed within 2 hours of baseline CT, and we recorded the following variables: hematoma volume, midline shift, third ventricle and lateral ventricle diameters, and the pulsatility index in both MCAs. We correlated these data with the CT scans and assessed the prognostic value of the transcranial duplex sonography measurements. We assessed early neurologic deterioration during hospitalization and mortality at 1-month follow-up. RESULTS: We included 35 patients with a mean age of 72.2 ± 12.8 years. Median baseline hematoma volume was 9.85 mL (interquartile range, 2.74-68.29 mL). We found good agreement and excellent correlation between transcranial duplex sonography and CT when measuring hematoma volume (r = 0.791; P < .001) and midline shift (r = 0.827; P < .001). The logistic regression analysis with transcranial duplex sonography measurements showed that hematoma volume was an independent predictor of early neurologic deterioration (OR, 1.078; 95% CI, 1.023-1.135) and mortality (OR, 1.089; 95% CI, 1.020-1.160). A second regression analysis with CT variables also demonstrated that hematoma volume was associated with early neurologic deterioration and mortality. When we compared the rating operation curves of both models, their predictive power was similar. CONCLUSIONS: Transcranial duplex sonography showed an excellent correlation with CT in assessing hematoma volume and midline shift in patients with intracerebral hemorrhage. Hematoma volume measured with transcranial duplex sonography was an independent predictor of poor outcome.
Assuntos
Hemorragia Cerebral/diagnóstico por imagem , Ultrassonografia Doppler Transcraniana/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Hemorragia Cerebral/mortalidade , Feminino , Seguimentos , Hematoma/diagnóstico por imagem , Humanos , Ventrículos Laterais/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Reprodutibilidade dos Testes , Terceiro Ventrículo/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Ultrassonografia Doppler Dupla/métodosRESUMO
OBJECTIVE: To analyze the efficiency of the program of quick diagnosis and treatment (PDTR, programa de diagnóstico y tratamiento rápido) of lung cancer established in the Hospital de la Santa Creu i Sant Pau of Barcelona to review the epidemiology of lung cancer. METHODS AND MATERIALS: Fifty-eight patients with lung cancer were studied. Twenty-nine of them were included in the program between October 2005 and May 2006, and the remaining were randomly selected among those diagnosed the year before (control group). Time between first visit, diagnosis and treatment and other variables (age, sex, histological type and TNM stage) were compared between groups. RESULTS: Significant differences were found between the two groups. PDTR patients had a mean time between first visit and treatment of 26.7 days (Standard Deviation [SD]=13.6), whereas this was 84 days (SD=53) in the control group. The PDTR group had a lower TNM stage, but statistical significance was only found in N (lymph node involvement) (p=0.007). CONCLUSION: Most patients included in the PDTR program spend less than 30 days between first visit and treatment, which represents a significant reduction in time (p<0.001). The effect on prognosis is controversial and will need long term studies.