Clinical significance of anti-desmoglein-1 and -3 circulating autoantibodies in Pemphigus Patients Measured by Area Index and Intensity Score.

Detection of anti-desmoglein-1 (anti-DSG-1) and anti-DSG-3 autoantibodies is widely used in the diagnosis of pemphigus. Two validated scoring systems, Pemphigus Disease Area Index (PDAI) and Autoimmune Bullous Skin Disorder Intensity Score (ABSIS), are used for the evaluation of clinical severity. The aim of this cross-sectional study was to interpret the titres of pemphigus autoantibodies in correlation with either total or location-dependent PDAI scores and ABSIS. A total of 35 pemphigus patients were selected and evaluated at 3 time points. Total PDAI and ABSIS seemed useful in pemphigus with cutaneous lesions or in the mucocutaneous form, while location-dependent PDAI and ABSIS scores were useful in the mucosal form. Anti-DSG-1 autoantibodies titres better showed the disease extent in pemphigus with cutaneous only or with mucocutaneous lesions. Anti-DSG-3 autoantibodies titres did not correlate to disease activity.

Association of autoantibodies to BP180 with disease activity in Greek patients with bullous pemphigoid.

39 bullous pemphigoid (BP) patients were studied to assess the clinical significance of anti-BP180 and anti-BP230 circulating autoantibodies of BP and correlate their titers with the clinical scores of the BP Disease Area Index (BPDAI) and the Autoimmune Bullous Skin Disorder Intensity Score (ABSIS) as well as with the intensity of pruritus measured by the BPDAI pruritus component. All parameters were evaluated by the time of diagnosis (baseline), month 3, and month 6. Titers of anti-BP180 autoantibodies were strongly correlated with BPDAI (r = 0.557, P value < 0.0001) and ABSIS (r = 0.570, P value < 0.0001) values, as well as with BPDAI component for the intensity of pruritus (rho = 0.530, P value = 0.001) at baseline. At month 3, titers of anti-BP180 autoantibodies were strongly correlated with BPDAI (rho = 0.626, P value = 0.000) and ABSIS (rho = 0.625, P value = 0.000) values, as well as with the BPDAI component for the intensity of pruritus (rho = 0.625, P value = 0.000). At month 6, titers of anti-BP180 autoantibodies were strongly correlated with BPDAI (rho = 0.527, P value = 0.001) and ABSIS (rho = 0.526, P value = 0.001) values, as well as with the BPDAI component for the intensity of pruritus (rho = 0.525, P value = 0.001). There was no statistically significant correlation between titers of anti-BP230 autoantibodies and the BPDAI, ABSIS, and BPDAI component for the intensity of pruritus at the same time points.

Molecular diagnosis and management of hereditary angioedema in a Greek family.

BACKGROUND: Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent angioedema episodes caused by a quantitative or functional defect of the plasma protein C1 esterase inhibitor (C1-INH). Relapsing skin swellings, abdominal pain attacks and upper airway obstruction constitute the typical clinical manifestations. The incidence and severity of angioedema attacks are highly variable among HAE patients. CASES: We report on 4 patients with HAE type I, members of the same family, originating from a Greek island. The patients, 2 males and 2 females (aged 8-45 years) suffer from recurrent edema episodes (1-2 attacks/month). Skin swellings at the extremities and the face, abdominal episodes and laryngeal edema are the classical clinical triad, with significant variation in the severity and frequency of symptoms among our patients. The new missense mutation in exon 2 of the C1-INH gene, c.1A>G; p.Met-22Val (p.Met1Val), in a heterozygous form was detected in all our patients. Acute and severe attacks are successfully treated with administration of C1-INH concentrate. CONCLUSION: Variability of phenotypic expression of HAE was observed among the affected family members, despite carrying identical mutation of the C1-INH gene. Acute exacerbations of the disease are safely and effectively treated with C1-INH concentrate.

Total serum insulin-like growth factor-1 and C-reactive protein in metabolic syndrome with or without diabetes.

There are only a few data on the relationship of insulin-like growth factor-1 (IGF-1), implicated in glucose homeostasis, and C-reactive protein (CRP), a measure of subclinical systemic inflammation, in patients with the metabolic syndrome (MetS). The authors investigated, in a cross-sectional design, the correlation between total IGF-1 and CRP in 170 subjects. Among them 123 had the MetS (National Cholesterol Program ATP III definition) and 47 did not, and 136 had type 2 diabetes mellitus (DM) and 34 did not. Anthropometric variables, clinical characteristics, as well as laboratory measurements, including total IGF-1 and CRP, were recorded. CRP levels showed a significant negative correlation with total IGF-1 concentrations, both in the whole study population (r = -0.252, p = 0.001) and the MetS group (r = -0.203, p = 0.025), regardless of the presence of DM. This correlation remained significant after adjusting for age, gender, smoking status, and waist circumference (r = -0.18, p = 0.05). Both low IGF-1 and high CRP levels had an almost linear relationship with the number of MetS components (p = 0.029 and p = 0.020, respectively), suggesting a close relationship of both variables with the cardiovascular disease (CVD) risk involved. The correlation between high CRP and low total IGF-1 might indicate that an increase in CRP levels may well be a key factor for the reduction in IGF-1 concentrations. Both factors are related to an increase in risk for MetS and CVD and this finding might have clinical implications in preventing or treating MetS, DM, and CVD. Given the cross-sectional design of the study, this finding should be confirmed by larger prospective and, it is hoped, interventional studies.

Altered Expression of TLR2 and TLR4 on Peripheral CD14+ Blood Monocytes in Children with Urinary Tract Infection.

Urinary tract infection (UTI) is the second most common bacterial infection, after otitis media, in infants and children. The mechanisms of disease susceptibility and the role of immunity in the pathogenesis of UTI in children have been evaluated. In recent years, Toll-Like Receptors (TLRs) have been recognized as specific components of the innate immune system constituting important mediators in host immune recognition. The aim of the present study was to determine ΤLR2 and TLR4 expression during the acute phase of UTI in infants and children by measuring the CD14/TLR2 and CD14/TLR4 expression on monocytes. We also attempted to compare the TLRs expression with the immunological status of the patients to healthy children. The study group consisted of 60 children (36 females and 24 males) and the control group included 60 age-matched pediatric subjects (27 females and 33 males). In our study, no antibody deficiency was found either in the children with UTI or in healthy subjects. There might be a connection between low IgA, IgG, and IgG subclasses serum levels and UTI as there was a statistically significant difference between patients and healthy children. A higher expression of CD14/TLR2 was revealed in patients (90,07%) compared to controls (85,48%) as well as CD14/TLR4 in patients (90,53%) compared to controls (87,25%) (statistically significant difference, p < 0,05). The results of this study could provide new understanding of UTIs' pathogenesis in children.

Does the presence of anti-CCP autoantibodies and their serum levels influence the severity and activity in rheumatoid arthritis patients?

This study aims to investigate the association of the presence and of the titer of autoantibodies against cyclic citrullinated peptides (aCCP), with clinical manifestations and disease activity in a cohort of patients with rheumatoid arthritis (RA). From January 2000 through December 2005, 135 patients were diagnosed with RA at the Rheumatology Unit of our hospital. Demographic, clinical, laboratory, and therapeutic parameters were evaluated in all patients at study entry and at every follow-up visit. Positivity in aCCP and also their levels were determined for all patients. At the end of the study, we reevaluated the above parameters, dividing patients into aCCP positive and aCCP negative. From 135 patients, 53.3% were aCCP positive. The majority of aCCP-positive patients were males (p<0.001), positive to rheumatoid factor (p<0.001) and current smokers (p<0.05). At diagnosis, aCCP-positive patients presented with higher tender joint counts (p<0.001) and swollen joint counts (p<0.001), and exhibited more active disease, expressed by higher disease activity scores for 28 joints (DAS-28) (p<0.001). At the end of the study, aCCP-positive patients also displayed more active disease, with higher DAS-28 (p<0.001), and more severe disease, as this was indicated by the higher radiological Larsen score (p<0.001). The serum levels of aCCP were not found to be associated with disease activity and severity. In early RA, the presence of aCCP is associated with increased disease activity and severity. This was found to be independent of circulating levels of aCCP.

Clinical and biochemical manifestations of syndrome X in obese children.

UNLABELLED: The aim of this study was to investigate whether the clinical and metabolic characteristics of syndrome X had their onset in childhood in otherwise healthy but obese children of Greek origin. A group of 25 obese children and 18 age- and sex matched control subjects, aged 6-14 years, underwent an oral glucose tolerance test (OGTT), assessed for determination of plasma glucose and insulin levels. Insulin sensitivity and insulin resistance were estimated by mathematical models using calculations obtained during the OGTT. Body mass index (BMI) and blood pressure were measured, as well as serum lipoprotein and aminotransferase concentrations, after an overnight fast. The obese children had significantly higher blood pressure (systolic and diastolic) (P<0.001), triglycerides, lipoprotein(a) and alanine aminotransferase levels (P<0.05) and significantly lower HDL-cholesterol and apolipoprotein A-1 values (P<0.001). Plasma glucose levels during the OGTT were similar in both obese children and control subjects, while plasma insulin levels were significantly higher in obese children (P<0.01). In mathematical models, mean values of insulin sensitivity predictors: metabolic clearance rate and insulin sensitivity index were significantly lower in obese children (P<0.001). Predictors of beta-cell function: insulin resistance index and insulin release index were significantly higher in obese children (P<0.001). CONCLUSION: Childhood adiposity was associated with all traditional components of syndrome X. The early recognition of these factors as predisposing elements of the appearance of metabolic syndrome requires the development of strategies to manage excess weight gain during childhood, with the ultimate goal being the prevention of type 2 diabetes and cardiovascular disease in adulthood.