The role of nailfold capillaroscopy in interstitial lung diseases - Can it differentiate idiopathic cases from collagen tissue disease associated interstitial lung diseases?

Introduction: Nailfold capillaroscopy (NFC) is a non-invasive diagnostic test that is mostly used for early diagnosis of collagen tissue diseases (CTDs). We aimed to evaluate whether NFC findings could be a clue for discriminating idiopathic interstitial lung diseases (ILD) from CTD associated ILDs (CTD-ILD). Additionally it was aimed to determine whether NFC could be helpful in discriminating usual interstitial pneumonia (UIP) pattern from non-specific interstitial pneumonia (NSIP) pattern. Materials and Methods: We grouped patients into three main groups: 15 CTD-ILD, 18 idiopathic ILD, and 17 patients in the control group. The CTD-ILD group was split into two subgroups: 8 patients with Sjögren’s syndrome (SJS)-associated ILD and 7 with rheumatoid arthritis (RA)-associated ILD. The idiopathic-ILD group consisted of 10 idiopathic NSIP and 8 IPF patients. The control group consisted of 10 SJS and 7 RA patients without lung disease. None of the patients were on acute exacerbation at the time of examination, and none had Reynaud’s phenomenon. Results: Mean capillary density was significantly reduced only in the CTD-ILD group as compared to the control group (p= 0.006). In subgroup analysis, it was determined that RA-ILD, IPF, and SJSILD subgroups had more severe capillaroscopic abnormalities. Mean capillary density in patients with the UIP pattern was reduced compared to patients with the NSIP pattern and those in the control group; p values were 0.008 and < 0.001, respectively. Conclusion: This study is to be the first describing and comparing the nailfold capillaroscopic findings of patients with NSIP and UIP patterns. NFC findings can be helpful in discriminating UIP patterns from NSIP patterns. But to show its role in differentiating idiopathic disease, more studies with more patients are needed. © 2015, Ankara University. All rights reserved

Association of synaptosomal-associated protein 25 (SNAP-25) gene polymorphism with temperament and character traits in women with fibromyalgia syndrome

Background: Synaptosomal-associated protein 25 (SNAP-25) may be contribute to the pathogenesis of fibromyalgia Syndrome (FMS) by affecting the release of neurotransmitters. Objectives: We aimed to investigate the relationship between the SNAP-25 gen (DdeI = rs1051312 and MnlI = rs3746544) polymorphism and the temperament and character traits. Methods: A total of 85 female patients diagnosed with FMS and 70 age-matched healthy female subjects were enrolled into the study. The Temperament and Character Inventory (TCI) were performed on all the patients. SNAP-25 gene polymorphism was determined in the patients group and controls group. Results: No significant difference between groups was found regarding the distribution of SNAP-25 MnlI polymorphism (p &gt; 0.05), but it was seen that the frequency of TC genotype for DdeI gene was higher in the patients group (p &lt; 0.05). Increased hazard avoidance was found in the patients group (p &lt; 0.05). When TCI scores were assessed in terms of SNAP-25 gene polymorphism, no statistically significant relationship was detected between the TT, TG, GG genotypes for MnlI gen and TCI scores (p &gt; 0.05). However, increased hazard avoidance was detected in patients with TC genotype for DdeI gene compared to patients without such genotype. Discussion: SNAP-25 might be an etiological factor in FMS pathogenesis and might affect personality traits of FMS patients by mediating neurotransmitter release

Synaptosomal-associated protein 25 (Snap-25) gene polymorphism frequency in fibromyalgia syndrome and relationship with clinical symptoms.

BACKGROUND: SNAP-25 protein is contributory to plasma membrane and synaptic vesicle fusions that are critical points in neurotransmission. SNAP-25 gene is associated with behavioral symptoms, personality and psychological disorders. In addition, SNAP-25 protein can be related to different neurotransmitter functions due to its association with vesicle membrane transition and fusion. This is important because neurologic, cognitive, and psychologic disorders in fibromyalgia syndrome (FMS) can be related to this function. This relationship may be enlightening for etiopathogenesis of FMS and treatment approaches. We aimed to study a SNAP-25 gene polymorphism, which is related to many psychiatric diseases, and FMS association in this prospective study. METHODS: We included 71 patients who were diagnosed according to new criteria and 57 matched healthy women in this study. Both groups were evaluated regarding age, height, weight, BMI, education level, marital and occupational status. A new diagnosis of FMS was made from criteria scoring, SF-36, Beck depression scale, and VAS that were applied to the patient group. SNAP-25 gene polymorphism and disease activity score correlations were compared. RESULTS: Mean age was 38±5,196 and 38.12±4.939 in patient and control groups, respectively (p=0.542). No significant difference was found between groups regarding age, height, weight, BMI, education level, marital or occupational status (p > 0.05). Ddel T/C genotype was significantly higher in the patient group (p = 0.009). MnlI gene polymorphism did not show a correlation with any score whereas a significant correlation was found between Ddel T/C genotype and Beck depression scale and VAS score (p < 0.05). CONCLUSION: FMS etiopathogenesis is not clearly known. Numerous neurologic, cognitive and psychological disorders were found during studies looking at cause. Our study showed increased SNAP-25 Ddel T/C genotype in FMS patients compared to the control group, which is related to behavioral symptoms, personality and psychological disorders in FMS patients

Frequency of fibromyalgia syndrome in patients with central serous chorioretinopathy

ABSTRACT Purpose: To &#305;nvestigate frequency of fibromyalgia syndrome (FMS) among patients with central serous chorioretinopathy (CSCR). Methods: The study included 83 patients with CSCR and 201 age- and sex-matched healthy controls; the mean age was 47.5 ± 11.3 years in the CSCR group (18 women; 21.7%) and 47.2 ± 11.2 years in the control group (44 women; 21.9%). All participants were assessed for FMS based on 2010 American College of Rheumatology diagnostic criteria and for depression and anxiety with the Beck Anxiety Inventory (BAI) and Beck Depression Inventory (BDI). Results: FMS was diagnosed in 35 patients (42.2%) from the CSCR group and in 21 individuals (10.4%) from the control group (p<0.001). It was found in 77.77% of the women (14/18) and 32.3% of the men (21/65) in the CSCR group and in 22.7% of the women (10/44) and 7.0% of the men (11/157) in the control group. Familial stress, BDI and BAI scores were higher in the patients with FMS than in those without. When independent risk factors were evaluated by logistic regression analysis, it was found that only the presence of familial stress was a significant risk factor for FMS. Conclusions: Patients with CSCR should be assessed for the presence of FMS, and this should be taken into consideration when developing a treatment plan. Further studies with a larger sample size are needed to clarify the relationship between FMS and CSCR

A variant allele of the Mediterranean-fever gene increases the severity of gout

Background: Gout is a clinical syndrome that occurs as an inflammatory response to increased concentration of uric acid and monosodium urate crystals. Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance. The Mediterranean fever (MEFV) gene is responsible for FMF and encodes pyrin that suppresses the inflammatory response. Most of the FMF-related mutations have been identified in exon 2 (e.g., E148Q and R202Q) and exon 10 (M680I, M694V, M694I and V726A) of the MEFV gene, and each missense mutation is known to increase production of interleukin-1, a proinflammatory cytokine. Our aim was to investigate effects of MEFV variant alleles on the manifestations of gout. Methods: Seventy-one patients diagnosed with gout (age: 61.73 ± 11.73 years, F/M: 14/57) and 50 healthy subjects (age: 61.48 ± 11.97, F/M: 10/40) as controls were included in this study. Results: MEFV variant alleles were found in 24 (33.8%) of the gout patients and in 13 (26%) of the control subjects; the difference was not statistically significant. In the gout patients with a MEFV variant allele, the interval between the first two attacks was shorter (P = 0.014), and the platelet count was higher (P = 0.026), compared to the patients without a variant allele. In addition, the patients with a MEFV variant allele showed the higher incidence of tophus (8.5% vs. 1.4%) (P = 0.005) and the higher number of attacks per year (P = 0.001). Conclusion: We propose that a variant allele of the MEFV gene may be responsible for the severity of gout. © 2016 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Lt

A variant allele of the Mediterranean-fever gene increases the severity of gout.

BACKGROUND: Gout is a clinical syndrome that occurs as an inflammatory response to increased concentration of uric acid and monosodium urate crystals. Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance. The Mediterranean fever (MEFV) gene is responsible for FMF and encodes pyrin that suppresses the inflammatory response. Most of the FMF-related mutations have been identified in exon 2 (e.g., E148Q and R202Q) and exon 10 (M680I, M694V, M694I and V726A) of the MEFV gene, and each missense mutation is known to increase production of interleukin-1, a proinflammatory cytokine. Our aim was to investigate effects of MEFV variant alleles on the manifestations of gout. METHODS: Seventy-one patients diagnosed with gout (age: 61.73 ± 11.73 years, F/M: 14/57) and 50 healthy subjects (age: 61.48 ± 11.97, F/M: 10/40) as controls were included in this study. RESULTS: MEFV variant alleles were found in 24 (33.8%) of the gout patients and in 13 (26%) of the control subjects; the difference was not statistically significant. In the gout patients with a MEFV variant allele, the interval between the first two attacks was shorter (P = 0.014), and the platelet count was higher (P = 0.026), compared to the patients without a variant allele. In addition, the patients with a MEFV variant allele showed the higher incidence of tophus (8.5% vs. 1.4%) (P = 0.005) and the higher number of attacks per year (P = 0.001). CONCLUSION: We propose that a variant allele of the MEFV gene may be responsible for the severity of gout