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.

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.

[Neuraxial anesthesia after local anesthesia for management of percutaneous vertebroplasty complication during vertebroplasty]. / 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.

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.

The determination of apoptosis rates on articular cartilages of ovariectomized rats with and without alendronate treatment.

Osteoporosis (OP) is a major health problem characterized by compromised bone strength. Osteoarthritis (OA) is a joint disease that progresses slowly and is characterized by breakdown of the cartilage matrix. Alendronate (ALN), a nitrogen-containing bisphosphonate (BIS), inhibits bone loss and increases bone mineralization, and has been used clinically for the treatment of OP. It is still controversial whether BIS is effective in inhibiting the progression of OA. Chondrocyte apoptosis has been described in both human and experimentally induced OA models. In our study we aimed to detect whether ALN could protect articular cartilage from degeneration and reduce apoptosis rates in experimentally OA induced rats. For this rats were ovariectomized (ovex), nine weeks after operation rats were injected 30 µg/kg/week ALN subcutaneously for six weeks. After six weeks articular cartilages were obtained. We did Safranin O staining and Mankin and Pritzker scorings to evaluate degeneration and investigated the expressions of p53, cleaved caspase 3, Poly ADP-ribose (PAR), Poly ADP-ribose polymerase 1 (PARP 1), and applied TUNEL technique to determine apoptotis rates. We found a significant decrease in glycosaminoglycan (GAG) amount and increased apoptosis which indicates damage on articular cartilages of ovex rats. GAG amount was higher and apoptosis rate was lower on articular cartilages of ALN treated ovex rats compared to the ovex group. In contrary to studies showing that early ALN treatment has a protective effect, our study shows late ALN treatment has a chondroprotective effect on articular cartilage since we treated rats nine weeks after ovariectomy.

Treatment of osteoporotic vertebral compression fractures with percutaneous vertebroplasty under local anesthesia: clinical and radiological results.

BACKGROUND: Vertebroplasty (VP) is a commonly used method for the treatment of osteoporotic vertebral fractures (OVF). The aim of this study is to analyze retrospectively the efficacy of PV in symptomatic osteoprotic spine fractures. METHODS: Patients with symptomatic osteoporotic spine fractures were included in our study. Visual analog scale and demographic characteristics were used for clinical examination, local wedge angle and the central height of the vertebral body were measured preoperatively and postoperatively. RESULTS: 95 patients (72 female, 23 male) were included and 118 level vertebroplasty were performed. There was statistical significance in the differences of preoperative VAS scores compared to postoperative first day, first month and sixth month. The radiologic assessment of the mean local wedge angle correction at the postoperative sixth month, was 13.9 and mean increase of mid height of vertebral body was 7.9 mm, but it was not statistically significant. CONCLUSION: VP is at an important point as a minimally invasive method, that provides rapid pain relief in symptomatic osteoporotic vertebral fractures and that prevents the patient being bed-dependent. It is a reliable surgical method, being an alternative to open surgery with minimal complications in patients with comorbidities, which can be arapidley applied and decreases the potential spinal deformity after the fracture and prevents the progression of deformity.

Gastrointestinal stromal tumor and isolated anterior tibial muscle metastasis as first recurrence.

In the presented case, we report gastrointestinal stromal tumor (GIST) in a patient using adjuvant imatinib in whom isolated metastasis to anterior tibial muscle as first recurrence was diagnosed. A 66-year-old woman was diagnosed with GIST on October 2012 and was followed up with adjuvant imatinib until June 2014. In this time, there was a nodular and fixed lesion with 1.5-2 cm of diameter in right lateral pre-tibial area. The lesion was resected, and it was reported as GIST metastasis by pathologist. GIST metastasis to muscle under knee is a generally unexpected area for any tumor metastasis. In modern treatment era, due to the increasing survival of the patients with GIST using targeted therapy, the metastatic pattern and behavior of GIST may be changing.

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.

[Does application time of alendronate sodium effect the spinal fusion in ovariectomized rats?]. / Alendronate sodyum uygulama zamani, ovariyektomi yapilmis siçanlarda spinal füzyon üzerine etkili midir?

OBJECTIVES: In this experimental study the effect of alendronate (Aln) sodium on spinal fusion, that was given preoperatively or postoperatively, was compared both mechanically and histologically in ovariectomized rats. The research question was "Does application time of alendronate sodium effect the spinal fusion in ovariectomized rats?''. MATERIALS AND METHODS: Fifty female Wistar rats with a mean weight of 200 g and an average age of 12 weeks were ovariectomized according to the standard procedure. The rats were randomized into three groups nine weeks after ovariectomy. Group 1: spinal arthrodesis and saline weekly for six weeks postoperatively; group 2: spinal arthrodesis and Aln sodium 1 µgr/kg/week for six weeks postoperatively; group 3: Aln sodium 1 µgr/kg/week for six weeks preoperatively, then one week later spinal arthrodesis was done. The rats were sacrificed six weeks after fusion surgery and their vertebrae were evaluated by manual palpation, mechanical testing machine and histomorphometric analysis. RESULTS: Fusion rates obtained by manual palpation were 50%, 17.6% and 55.5% in group 1, 2 and 3, respectively (p>0.05). Mean values of fusion tissues in mechanical evaluation were 498±20.7, 481±23.7 and 480±26.2 (MPa) accordingly (p>0.05). Compared with group 1, delayed endochondral ossification and more cartilage matrix among bone grafts were seen in group 2 and 3 in histological evaluation. CONCLUSION: Application time of the Aln sodium didn't significantly affect the lumbar spinal fusion rates in ovariectomized rats. In histological evaluation, delayed endochondral ossification was seen in Aln sodium-treated groups.