Assuntos
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
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/embriologiaRESUMO
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.