Hüseyin Balkarlı

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

BackgroundSNAP-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.MethodsWe 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.ResultsMean 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).ConclusionFMS 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.

An evaluation of the functional and radiological results of percutaneous vertebroplasty versus conservative treatment for acute symptomatic osteoporotic spinal fractures

PURPOSE This study aimed to compare the results of the two different treatment regimens (percutaneous vertebroplasty (PV) and conservative treatment (CT)) regarding to efficacy, quality of life, functional and radiological results in patients with acute osteoporotic vertebral compression fractures (OVF). METHODS The study comprised 83 patients who presented with complaints of OVF associated with osteoporosis and were treated with CT (37) or PV (46). All patients were evaluated according to preoperative and postoperative visual analogue scale (VAS), Oswestry disability index (ODI) and plain radiographs. RESULTS All patients in VP group reported a significant decrease in pain at 1st day postoperative. While Pain relief and functional outcomes were significantly better in PV group than CT at 1st and 3rd months according to VAS and ODI scores, there were no statistically significant differences between the groups at 6th months follow-up. The mean preoperative local sagittal Cobb angle (LSCA) and the mean vertebra corpus mid-level height (MVCH) were 42.3° and 14.6 mm in the PV group, while they were measured as 39.8° and 15.7 mm in CT group, respectively. 15.6° decreasing the LSCA and 10.2 mm increasing MVCH were noted in the PV group at the 6th month follow-up. While LSCA increased 19.1° and MVCH decreased 7.6mm in CT group at same time period (p<0.001). CONCLUSIONS Compared to the CT group, PV provides a rapid decrease of pain and an early return to daily life activities. Although improvement was observed on the radiological findings following treatment in the PV group, PV may not enhance the quality of life in patients with acute OVF at 6th months follow up.

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

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.

AB0656 Serum vitamin d and parathyroid hormone levels in premenopausal women with fibromyalgia syndrome

Background Fibromyalgia syndrome (FMS) is a common chronic musculoskeletal disorder characterized by the presence of widespread pain and multiple tender points on physical examination. Deficiency of vitamin D can cause similar musculoskeletal symptoms. Studies regarding vitamin D and FMS relationship have been done in the recent years. Although some studies determined this relationship, other have failed to do so. Objectives We aimed to evaluate the relationship between serum vitamin D and parathyroid hormone (PTH) levels and clinical findings in premenopausal FMS patients. Methods 77 patients diagnosed with FMS according to new criteria and 60 healthy women were included in this study. We did not include smokers and obese patients. Both groups were questioned for age, height, weight, BMI, education level, working status, number of children, menarche age, living condition (urban, rural), dressing style and sun exposure. Both groups were checked for serum calcium, phosphor, alkaline phosphatase, vitamin D, and PTH levels. FMS new diagnosis criteria scoring, sleep symptom scale, SF-36, Beck depression scale, BASDAI, VAS, revised fibromyalgia impact (FIQR) questionnaires were done to the patient group, and scores were recorded. Serum vitamin D deficiency was described as ≤20 ng/mL, insufficient vitamin D as 21-29 ng/mL and adequate vitamin D as ≥30 ng/mL. Results Mean age was 38,68±5,196 and 38,12±4.939 years for patient and control group, respectively. No significant difference was found between the groups for age, height, weight, BMI, education level, working status, number of children, menarche age, living condition (urban, rural), dressing style and sun exposure (p>0.05). Hemoglobin, calcium, phosphor, and alkaline phosphatase were similar in both groups. Serum vitamin D levels were found lower in the patient group when compared with controls (p=0.000). Parathyroid hormone levels were significantly higher in the patient group (p=0.000). Vitamin D levels were ≤20 ng/mL for 32 (42.7%), 21-29 ng/mL for 14 (18.7%) and >30 ng/mL for 29 (38.7) patients. No significant difference between scores were found when patients who had serum vitamin D levels ≤20 ng/mL and >20 ng/mL compared. SF-36, new diagnosis criteria score and FIQR scores were correlated. Patient serum PTH levels and serum vitamin D levels showed negative correlation, and it was significantly higher than in the control group (p=0.000). Conclusions We determined an increase in vitamin D deficiency and insufficiency in FMS patients. However, pain and quality of life scores did now show any significant difference when patient who had vitamin D deficiency and patients who did not have were compared. We highly think that receptor inactivity must be investigated before stating that vitamin D levels and FMS disease scores do not show any correlation. Disclosure of Interest None Declared

Neuraxial anesthesia after local anesthesia for management of percutaneous vertebroplasty complication during vertebroplasty

Percutaneous vertebroplasty is a relatively safe, simple and commonly performed interventional procedure for the management of vertebral compression fractures. However, serious complications are rarely reported in the procedure. Those are pulmonary embolism, severe infection, paraplegia and an occurrence of a new fracture in an adjacent vertebra after vertebroplasty. Acute complications are generally associated with the procedure. We present the case of neuraxial anesthesia, developed after local anesthesia with 8mL of 2% prilocaine, in a 68-year-old woman who underwent percutaneous vertebroplasty after an osteoporotic collapsed fracture in the L1 vertebra due to trauma. To our knowledge, this is the first case in the literature.

Bloqueio neuroaxial após anestesia local para manejo de complicação de vertebroplastia percutânea durante vertebroplastia

Percutaneous vertebroplasty is a relatively safe, simple and commonly performed interventional procedure for the management of vertebral compression fractures. However, serious complications are rarely reported in the procedure. Those are pulmonary embolism, severe infection, paraplegia and an occurrence of a new fracture in an adjacent vertebra after vertebroplasty. Acute complications are generally associated with the procedure. We present the case of neuraxial anesthesia, developed after local anesthesia with 8mL of 2% prilocaine, in a 68-year-old woman who underwent percutaneous vertebroplasty after an osteoporotic collapsed fracture in the L1 vertebra due to trauma. To our knowledge, this is the first case in the literature.

THU0552 Haplotypes of Vitamin D Receptor Gene: Both Risky and Protective for Fibromiyalgia (FMS): Table 1.

Background Clinical observations suggest that vitamin D may influence fibromyalgia etiology. FMS and vitamin D deficiency share a similar symptom profile; the relationship between these conditions is unclear. Vitamin D receptor is a crucial mediator of the symptoms of vitamin D deficiency. Thus, vitamin D receptor gene polymorphisms or haplotypes may contribute to vitamin D resistance. Objectives This study evaluated the clinical relationship between FMS and vitamin D gene among Turkish FMS patients. Methods 73 patients with FMS were diagnosed according to the ACR 2010 criteria; the control group included 61 healthy unrelated volunteers. The rs2228570 (Fok I), rs1544410 (Bsm I), rs7975232 (Apa I) and (rs731236) Taq I polymorphisms were examined using PCR-RFLP. Results In individual SNP analyses, none of the snps have been found to be associated with FMS (p values are 0.491, 0.477, 0.207, and 0.736 respectively). However, it has been detected that there is a strong association between haplotypes of VDR gene polymorphisms and FMS. As a result of this study, the effect of haplotypes is shown to be both risky and protective. P value of risk haplotypes ATC (rs2228570, rs1544410, rs7975232) is 0,015 (26,5%) and TTT is 0,0068 (12,8%). The p value of collected risk haplotypes (ATC, TTT) is 0,006 (39,3%) and (ATC, TGT, and TTT) 0,000009 (58,7%). Frequent protective haplotype TTC is 0,0385 (6,8%). The p value of collected protective haplotypes (ATT, TCG, and TTC) is 0,008 (38%).Table 1. Haplotype analysis of VDR gene polymoprhisms (1 = Bsm1, 2 = Fok1, 3 = Taq1) Haplo No. Haplotype Control Case P OR RR Risk/Protective Bsm1-Apa1-Fok1 (%) (%) (95% CI) (95% CI) 1 ATT 31.7 38.4 0.327 0.74 0.83 R (1.33–0.42) (1.21–0.56) 2 ATC 26.5 14.5 0.015 2.37 2.01 P (4.82–1.17) (3.59–1.13) 3 TGT 19.4 10.5 0.077 2.05 1.85 P (4.61–0.91) (3.71–0.92) 4 TTT 12.8 2.6 0.0068 5.50 4.92 P (21.52–1.41) (18.4–1.34) 5 TGC 5.2 12.3 0.075 0.39 0.39 R (1.14–0.13) (1.13–0.16) 6 TTC 1.1 6.8 0.0385 0.15 0.16 R (1.17–0.02) (1.19–0.02) 2+4 ATC+TTT 39.3 17.1 0.006 3.1 2.28 P (5.99–1.61) (3.73–1.39) 2+3+4 ATC+TGT+TTT 58.7 27.6 0.000009 3.73 2.13 P (6.74–2.06) (3.04–1.49) 1+5+6 ATT+TGC+TTC 38 57.5 0.0008 0.39 0.60 R (0.68–0.22) (0.82–0.44) Conclusions The present study is the first study evaluating VDR gene in patients with FMS. Our results suggest that haplotypes in VDR are strongly associated with fibromyalgia expressing both risk and protective effect. Our findings may help guide future research needed to define the role of vitamin D in FMS. Disclosure of Interest None declared

AB0655 Relationship between synaptosomal-associated protein 25 (snap-25) gene polymorphism and fibromyalgia syndrome

Background SNAP-25 protein is a protein contributory to plasma membrane and synaptic vesicle fusions which is a critical point in neurotransmission. SNAP-25 gene is associated with personality disorders, behavioral symptoms and psychological disorders that can develop later in life. In addition, SNAP-25 protein can be related to different neurotransmitter functions because it is associated with vesicle membrane transition and fusion. This is important because neurologic, cognitive, psychologic disorders in fibromyalgia syndrome (FMS) can be related to this. Such relation will be enlightening for etiopathogenesis of FMS and treatment approaches. Objectives We aimed to investigate SNAP-25 gene polymorphism and FMS relation 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 in age, height, weight, BMI, education level, marital status and working conditions. FMS new diagnosis criteria scoring, sleep symptom scale, SF-36, Beck depression scale, BASDAI, VAS, revised fibromyalgia impact (FIQR) questionnaires were done 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 in age, height, weight, BMI, education level, marital status and working condition (p>0,05). We determined MnlI T/G genotype in 34 (47.9%), MnlI G/G genotype in 7 (9.9%), Ddel T/C genotype in 40 (56.3%), and Ddel C/C genotype in 2 (2.8%) patients. 19 (33.3%) MnlI T/G genotype, 11 (19.3%) MnlI G/G genotype, 17 (29.8%) Ddel T/C genotype and 4 (7%) Ddel C/C genotypes were found in the control group. Ddel T/C genotype was significantly higher in the patient group (p=0,009). MnlI gene polymorphism did not show any correlation with any score whereas significant correlation was found between Ddel T/C genotype and lethargy score (p=0.042). Conclusions FMS etiopathogenesis is not clearly known. Numerous neurologic, cognitive and psychological disorders were found during cause intended studies. Our study showed increased SNAP-25 Ddel T/C genotype which is related with personality disorders, behavioral symptoms and psychological disorders that can develop later in life in FMS patients when compared with the control group. However larger population is needed with temperament and character inventory in order to explain this relationship. Disclosure of Interest None Declared