RESUMO
LPS-ligation to CD14/TLR-4 on monocytes/macrophages triggers the production of IL-12-family cytokines. IL12/18 promote TH1-differentiation, counteracting the TH2-driven asthma. Therefore, CD14 modulation could alter the TH2-differentiation and should be taken into account when studying asthma. To analyse the alteration in CD14 levels and its association with CD14 (-159 C/T) SNP (rs2569190) in Caucasian adults with stable allergic asthma, we performed a cross-sectional study (277 healthy subjects vs. 277 patients) where clinical parameters, CD14 values and the CD14 (-159 C/T) SNP were studied. Apart from typical biomarkers, we found an increment of neuron-specific enolase (NSE) in allergic asthma, probably linked to monocyte activity. Indeed, we evidenced increased monocyte numbers, but lower CD14 expression and normalised sCD14 values in patients. Moreover, we noticed an association of the T allele (P = 0.0162) and TT genotype (P = 0.0196) of the CD14 SNP with a decreased risk of allergic asthma and augmented sCD14 levels. In conclusion, monocyte CD14 expression and normalized sCD14 values were reduced in stable state asthmatics, and this could be related to the presence of an expanded CD14low monocyte subset. This study also demonstrates that the CD14 (-159 C/T) polymorphism is a risk factor for moderate-severe allergic asthma in adult Caucasians.
Assuntos
Asma/genética , Receptores de Lipopolissacarídeos/genética , Monócitos/metabolismo , Polimorfismo de Nucleotídeo Único , Adulto , Asma/sangue , Asma/patologia , Biomarcadores/sangue , Estudos de Casos e Controles , Feminino , Regulação da Expressão Gênica , Humanos , Contagem de Leucócitos , Receptores de Lipopolissacarídeos/biossíntese , Masculino , Pessoa de Meia-Idade , Monócitos/patologiaRESUMO
CASE REPORT: Fabry's disease is an illness produced by an alteration in the catabolism of the glycosphingolipids. We report ophthalmologic findings in 4 people, detected after 113 patient evaluations from an analytical, cardiological and genetic point of view. DISCUSSION: Fabry's disease is uncommon and shows variable ophthalmologic affectation. Some patients with Fabry's disease do not present ocular affectation, while, on the other hand, healthy carriers with important ocular alterations have been described. The deposit of glycosphingolipids produces affectation at the corneal, crystalline, vascular and retinal levels. The vascular alterations affect not only the veins but also the arteries, as we report in our patients.
Assuntos
Oftalmopatias/etiologia , Doença de Fabry/complicações , alfa-Galactosidase/genética , Idoso , Sequência de Carboidratos , Catarata/etiologia , Doenças da Túnica Conjuntiva/etiologia , Doenças da Córnea/etiologia , Técnicas de Diagnóstico Oftalmológico , Oftalmopatias/diagnóstico , Doença de Fabry/enzimologia , Doença de Fabry/genética , Glicoesfingolipídeos/análise , Glicoesfingolipídeos/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , Vasos Retinianos/metabolismo , Vasos Retinianos/patologiaRESUMO
CLINICAL CASE: A 45-year-old male referred with a scotoma in the left eye of 2 months' evolution. A peripapillary tumor was found, with a basal diameter of 7 mm and thickness 3.4 mm. It was diagnosed as a circumscribed choroidal hemangioma. It was decided to treat the patient using photodynamic therapy. After 4 sessions and 17 months follow-up, the patient remained asymptomatic and visual acuity was stable. There was evidence of subretinal fibrosis and no subretinal fluid was found. DISCUSSION: Photodynamic therapy is a good option for the treatment of circumscribed choroidal hemangioma given the minimal damage is causes to the adjacent retina.