RESUMO
Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous disorder showing variability in age of onset and clinical features. Chilblain lesions have been described in AGS patients and recent papers have discussed the clinical, molecular and cutaneous histopathological overlap with chilblain lupus. Here we report on 2 unrelated children with AGS and chilblain lesions, whose clinical histories and examination findings well illustrate the wide phenotypic variability that can be seen in this pleiotropic disorder. Although both patients show remarkable similarity in the histopathology of their associated skin lesions, with thrombi formation, fat necrosis and hyalinization of the subcutaneous tissue, we note that the histopathology reported in other AGS cases with chilblains does not necessarily demonstrate this same uniformity. Our findings highlight the significant role of the characteristic chilblain skin lesions in the diagnosis of AGS, and variability in the associated histopathology which may relate to the stage and severity of the disease.
Assuntos
Doenças dos Gânglios da Base/complicações , Doenças dos Gânglios da Base/diagnóstico , Pérnio/etiologia , Oftalmopatias/complicações , Lúpus Eritematoso Sistêmico/complicações , Doenças dos Gânglios da Base/genética , Calcinose/genética , Calcinose/patologia , Pérnio/genética , Criança , Consanguinidade , Análise Mutacional de DNA , Oftalmopatias/etiologia , Oftalmopatias/genética , Feminino , Humanos , Lactente , Lúpus Eritematoso Sistêmico/genética , Masculino , Proteínas Monoméricas de Ligação ao GTP/genética , Proteína 1 com Domínio SAM e Domínio HD , Convulsões/complicações , Convulsões/genética , Pele/patologia , Tomografia Computadorizada por Raios X/métodosRESUMO
The aim of our study was to evaluate changes in awareness of blood pressure during transition into a market economy in Poland. Thus, in 1994, we conducted a cross-sectional survey based on a questionnaire interview on a sample of 2080 men (M) and women (F) aged 18 years and over. The subjects were selected from a Polish population by stratified and cluster random sampling with quotas by the Center for Social Research in Sopot. They were asked if they were aware of blood pressure. The results were analysed according to age, sex, education level, income and place of living. In September 1997 we carried out the same investigation on a new group of 1664 adults. In addition to the questionnaire, the blood pressure (three recordings at home) measurements were completed. The interviewers were well-trained medical students. Awareness of blood pressure has declined (P < 0.001) from 71% in 1994 to 65.5% in 1997. The highest decrease in awareness of blood pressure was observed among less educated people, as well as among people living in smaller cities and villages. The overall prevalence of hypertension was 25.9% by 'older' WHO criteria (BP > or =160/95 mm Hg or taking antihypertensive medication) and 44.5% by JNC VI criteria (BP > or =140/90 mm Hg or taking antihypertensive medication). Forty-six percent of hypertensive subjects classified by JNC VI criteria were previously known to be hypertensives and 54% were newly detected (F: 39%, M: 69%). Low awareness of blood pressure in Poland is the crucial factor of insufficient detectability of hypertension. Decline of awareness of blood pressure being the most significant among people representing lower social status, emphasises the need for urgent preventive measures.
