ABSTRACT
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.
Subject(s)
Asthma/genetics , Lipopolysaccharide Receptors/genetics , Monocytes/metabolism , Polymorphism, Single Nucleotide , Adult , Asthma/blood , Asthma/pathology , Biomarkers/blood , Case-Control Studies , Female , Gene Expression Regulation , Humans , Leukocyte Count , Lipopolysaccharide Receptors/biosynthesis , Male , Middle Aged , Monocytes/pathologyABSTRACT
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.
Subject(s)
Eye Diseases/etiology , Fabry Disease/complications , alpha-Galactosidase/genetics , Aged , Carbohydrate Sequence , Cataract/etiology , Conjunctival Diseases/etiology , Corneal Diseases/etiology , Diagnostic Techniques, Ophthalmological , Eye Diseases/diagnosis , Fabry Disease/enzymology , Fabry Disease/genetics , Glycosphingolipids/analysis , Glycosphingolipids/metabolism , Humans , Male , Middle Aged , Molecular Sequence Data , Pedigree , Retinal Vessels/metabolism , Retinal Vessels/pathologyABSTRACT
Caso clínico: La enfermedad de Fabry es una enfermedad producida por una alteración en el catabolismo de los glucoesfingolípidos. Se muestran las alteraciones oftalmológicas de cuatro pacientes detectados tras evaluar desde el punto de vista analítico, cardiológico y genético a 113 enfermos. Discusión: La enfermedad de Fabry es una enfermedad infrecuente con afectación oftalmológica inconstante existiendo enfermos con Fabry sin afectación ocular y portadores sanos, con importantes alteraciones oculares. El depósito de glucoesfingolípidos produce afectación a nivel corneal, cristaliniano, vascular y retiniano. Las alteraciones vasculares afectan no sólo a las venas sino también a las arterias como mostramos en nuestros pacientes
Case report: Fabrys 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 (Arch Soc Esp Oftalmol 2008; 83: 713-718)
Subject(s)
Humans , Male , Middle Aged , Fabry Disease/complications , Fabry Disease/diagnosis , Graves Disease/complications , Graves Disease/diagnosis , Angiography/methods , alpha-Galactosidase , alpha-Galactosidase , alpha-Galactosidase/pharmacokinetics , alpha-Galactosidase/metabolism , Sclerosis/complications , Sclerosis/epidemiology , Cornea/pathology , CorneaABSTRACT
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.
Subject(s)
Choroid Neoplasms/drug therapy , Hemangioma/drug therapy , Photochemotherapy , Humans , Male , Middle AgedABSTRACT
Caso clínico: Varón de 45 años, que acude por escotoma de ojo izquierdo de 2 meses de evolución.Las exploraciones complementarias demuestran untumor yuxtapapilar de 7 mm x 3,4 mm que es diagnosticadocomo hemangioma circunscrito de coroides.Se decide tratarlo con terapia fotodinámica. Tras 4sesiones y 17 meses de seguimiento el paciente permaneceasintomático, su agudeza visual se mantieney la lesión presenta aspecto fibrótico sin exudación.Discusión: La terapia fotodinámica es una de lasmejores opciones terapéuticas en esta patología por el mínimo daño que causa sobre la retina (AU)
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. (Arch Soc Esp Oftalmol 2008; 83: 553-558)
