24 results on '"Koyun AN"'
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2. POS1221 EFFECT OF COVID-19 ON CHILDREN WITH RHEUMATIC DISEASE
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T. Limon, G. Kaya Aksoy, S. Akman, M. Koyun, G. Öngüt, D. Mutlu, E. Çomak, T. Tural Kara, and Ö. Koyuncu Özyurt
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Rheumatology ,Immunology ,Immunology and Allergy ,General Biochemistry, Genetics and Molecular Biology - Abstract
BackgroundPediatric patients with a diagnosis of rheumatic disease are at increased risk for infectious diseases due to immune dysregulation arising fromthe disease itself, as well as immunoregulatory or immunosuppressive drugs they use. However, there are studies reporting that COVID-19 disease has a moderate course in children with rheumatic disease.ObjectivesThis study aims to determine the seroprevalence of SARS-CoV-2 in children with rheumatic disease during the COVID-19 pandemic, to evaluate the effects of immunosuppressive drugs and biological agents on seroprevalence of COVID.MethodsBetween September 2020 and September 2021, patients aged 2-18 years with a diagnosis of and with a follow-up period of more than 6 months were included in the study. Patients were selected by “simple random sampling” method.Anti-SARS-CoV-2 antibodies (IgG and IgA) against the S1 domain of the SARS-CoV-2 spike protein were investigated with a micro ELISA kit.Results170 patients, 92 (54.1%) girls, with a mean age of 12.16±4.18 years, were included. The median age at diagnosis was 7.59 (IQR 4.33-11.30) years, and the median follow-up time after diagnosis was 3.24 (IQR 1.87-5.99) years. Primary disease distribution was presented on Figure 1. The co-morbid diseases as obesity, hypertension and chronic kidney disease was present in 4.7%, 9.4% and 5.3% of patients, respectively. The distribution of medications was as follows; colchicine 101 patients (59.4%), Disease Modifying Anti-Rheumatism Drugs 49 (28.8%), steroid 25 (14.7%), and biological agents 28 (16.5%).Figure 1.Distribution of patients according to primary rheumatologic diagnosisAnti-SARS-CoV-2 Ig G antibody was positive in 40 (23.5%) of the patients. Demographic characteristics and treatment-related variables were similar between SARS-CoV-2 IgG seropositive and seronegative patients (Table 1).Table 1.Characteristics of patients who are seropositive and seronegative for anti-SARS-CoV-2 Ig GVariableAnti-SARS-CoV-2 IgG negative patients (n=130)Anti-SARS-CoV-2 IgG positive patients (n=40)pAge (years)11.96±4.1912.80±4.140.528Sex (%)Female67 (%72.8)25 (%27.2)0.150Median age at diagnosis (years)7.56±4.038.69±4.750.195Median follow-up time after diagnosis (years)4.39±3.274.11±3.190.891Diagnosis (%) FMF and other autoinflammatory disease62 (%78.5)17 (%21.5)0.166 Juvenile idiopathic arthritis39 (%78.0)11 (%22.0) SLE ve other autoantibody related diseases16 (%80.0)4 (%20.0) Behçet’s disease8 (%66.7)4 (%33.3) Vasculitis5 (%55.6)4 (%44.4)MEFV mutation Homozygous30 (%75.0)10 (%25.0)0.991 Heterozygous33 (%76.7)10 (%23.3) No mutation36 (%75.0)12 (%25.0)Presence of colchicine usageYes76 (%75.2)25 (%24.8)0.396No54 (%78.2)15 (%21.7)Median colchicine dose (mg/day)1.09±0.441.13±0.420.842Presence of DMARD usageYes37 (%75.5)12 (%24.5)0.499No93 (%76.9)28 (%23.1)Presence of steroid usageYes17 (%68.0)8 (%32.0)0.202No113 (%77.9)32 (%22.1)Median steroid dose (mg/day)10.50±8.9114.71±11.950.333Presence of biological agent usageYes21 (%75.0)7(%25.0)0.505No109 (%76.8)33(%23.2)Thirty-eight (22.4%) of the patients had close contact with an individual diagnosed with COVID-19. Thirty two (18.9%) patients underwent PCR testing for SARS-CoV-2; only 4 (2.4%) had positive. Of these 32 patients, 28.1% were positive for IgG. IgG seropositivity was observed in 3 (75.0%) of 4 patients with PCR positivity.ConclusionWe found the SARS-CoV-2 seroprevalence of 23.5% in children with a diagnosis of rheumatic disease. It seems that primary rheumatological diagnosis does not affect COVID seropositivity in children.Disclosure of InterestsNone declared
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- 2022
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3. THU0573 Semen Analysis in Adolescent with Familial Mediterranian Fever
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Aksoy, G.K., primary, Usta, M.F., additional, Koyun, M., additional, Comak, E., additional, Gemici, A., additional, and Akman, S., additional
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- 2016
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4. SAT0270 Subclinical Inflammation in Children with Familial Mediterranean Fever: Measurement of Serum Amyloid A Levels: Table 1.
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Comak, E., primary, Isıyel, E., additional, Kılıcbay, F., additional, Kaya Aksoy, G., additional, Gemici, A., additional, Koyun, M., additional, and Akman, S., additional
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- 2016
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5. SAT0271 Hepatosplenomegaly: A Complication of Persistent Subclinical Inflammation in Children with Familial Mediterranean Fever?: Table 1.
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Comak, E., primary, Duygulu, G., additional, Isıyel, E., additional, Kılıçbay, F., additional, Koyun, M., additional, and Akman, S., additional
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- 2016
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6. SAT0270 Subclinical Inflammation in Children with Familial Mediterranean Fever: Measurement of Serum Amyloid A Levels: Table 1
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G. Kaya Aksoy, E. Isıyel, Elif Çomak, Atilla Gemici, F. Kilicbay, Mustafa Koyun, and Sema Akman
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myalgia ,medicine.medical_specialty ,Abdominal pain ,Proteinuria ,medicine.diagnostic_test ,business.industry ,Immunology ,Familial Mediterranean fever ,medicine.disease ,MEFV ,Asymptomatic ,Gastroenterology ,General Biochemistry, Genetics and Molecular Biology ,Surgery ,Rheumatology ,Internal medicine ,Erythrocyte sedimentation rate ,medicine ,Immunology and Allergy ,Serum amyloid A ,medicine.symptom ,business - Abstract
Background Familial Mediterranean Fever (FMF) is an autosomal recessive, inherited, autoinflammatory disease characterized by recurrent, self-limited febrile episodes of inflammation of serous membranes and marked elevation of acute phase proteins. In some patients with FMF, the laboratory markers of inflammation do not return to normal levels during attack-free periods, and complications related with persistent subclinical inflammation may occur. Objectives The aim of this study was to evaluate the clinical role of serum amyloid A (SAA) and other acute-phase proteins during the treatment and follow-up of children with FMF. Methods The children with the diagnosis of FMF were enrolled in the study. Information including clinical and laboratory findings, erythrocyte sedimentation rate (ESR), SAA and C-reactive protein (CRP) levels, type of MEFV mutation were collected from the hospital9s records following approval by the local ethics committee. Children were divided into four groups according to the time of SAA determination: group I during diagnostic evaluation (before colchicine treatment), group II asymptomatic children treated with low-dose colchicine, group III asymptomatic compliant children treated with adequate dose colchicine according to the their body weight, group IV non-compliant children with colchicine treatment. Results A total of 141 children, 73 (51.8%) girls with a median age of 11 years (1.5–18) and a median follow-up period of 12 months (3–135) were included in the study. Thirty two children, (22.7%) had parental consanguinity and 79 children (56.0%) had family history of FMF. Thirty three children (23.4%) were homozygous, 66 children (46.8%) were compound heterozygous and 42 children (29.8%) were heterozygous for MEFV gene. Colchicine treatment was started in all patients. The main clinical characteristics of the children were: abdominal pain in 87.2%, fever in 61.7%, arthralgia/myalgia in 52.5%, arthritis in 15.6%, chest pain in 10.6%, erysipelas-like erythema in 4.3%, history of appendectomy in 6.2%, microalbuminuria in 15.6% and proteinuria 6.4%. There were 21 children in group I, 9 in group II, 84 in group III and 27 in group IV. Elevated SAA levels (>10 mg/L) found in 55 children (39.0%), elevated CRP levels (>0.5 mg/dl) in 45 children (31.9%) and elevated ESR (>20 mm/hour) in 42 children (29.8%). Comparison of the acute-phase proteins revealed significant differences between four groups as expected (Table 1). In group II, number of children who had elevated SAA levels was higher than the number of children with elevated CRP levels (88.9% vs 44.4%) and none of these children had elevated ESR. Conclusions Our findings suggest that SAA level is important laboratory parameter for determination of subclinical inflammation especially in asymptomatic children treated with low-dose colchicine. Monitoring of SAA levels should be part of routine follow-up of children with FMF for the prevention of the development of FMF-related complications. Disclosure of Interest None declared
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- 2016
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7. THU0573 Semen Analysis in Adolescent with Familial Mediterranian Fever
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Atilla Gemici, Elif Çomak, Mustafa Koyun, Sema Akman, Mustafa F. Usta, and Gülşah Kaya Aksoy
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medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Immunology ,Familial Mediterranean fever ,Semen analysis ,Compound heterozygosity ,medicine.disease ,Gastroenterology ,Sperm ,General Biochemistry, Genetics and Molecular Biology ,chemistry.chemical_compound ,Rheumatology ,chemistry ,Pleurisy ,Internal medicine ,Erythrocyte sedimentation rate ,Immunology and Allergy ,Medicine ,Colchicine ,business ,Sperm motility - Abstract
Background Familial Mediterranean Fever (FMF) is a genetic disease that has characteristics like fever, sterile peritonitis, pleurisy, joint pain and rashes that are similar to erysipelas. In male patients, scrotal involvement is seen especially in children and adolescents with the frequency being below 5%. 1 Colchicine is an agent which regulates microtubules in cell9s structure, pauses metaphase stage in cell division and stops microtubule dependent cell movement 2 . Colchicine is principal for treatment of FMF. Colchicine has a negative effect on sperm count and motility as it effects microtubules. Objectives We aimed to observe the relationship between sperm count and function with disease activity and colchicine usage in adolescent male patients with FMF. Methods Male patients between the age of 14–19 years old with FMF investigated retrospectively. Tel Hashomer and Turkish FMF Pediatric Criteria were used for diagnosis of FMF. Genetic screening was performed in all patients at the time of diagnosis. Sperm analysis was performed in 19 patients on treatment with colchicine. Demographic and clinical parameters of patients were analyzed. Results Mean age at the diagnosis was 11.13±3.82 years old, mean age at the study was 14.50±0.70 and mean follow-up period was 4.68±3.94 years. Homozygote, compound heterozygote and heterozygote mutations were found in eight, seven and one patients, respectively; no mutations in 3 patients. Mean colchicine dose was 1.16 mg/day at the start of treatment and 1.47 mg/day when sperm samples were collected. Mean sperm concentration was found as 66.26±41.02 million/ml (N>15), sperm count 113.42±132.39 million (N>35) and motility %51.78±23.70 (N>50%). Only 8 patients out of 19 had normal sperm parameters. Sperm concentration was reduced in two cases; sperm count was reduced in four patients whereas motility was reduced in nine cases. No relation was determined between sperm volume, count, concentration and motility results with age at diagnosis, follow-up period, symptoms on admission and inflammatory markers (CRP and erythrocyte sedimentation rate). Patients that had sedimentation values above 30 mm/hour during follow-up had sperm count below Conclusions A high number of adolescents with FMF had abnormal sperm parameters, mostly sperm motility. It seems that both colchicine and uncontrollable attacks of FMF may be the reason of abnormal sperm parameters. We suggest that all adolescents with FMF should be screened for semen analysis. Disclosure of Interest None declared
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- 2016
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8. SAT0271 Hepatosplenomegaly: A Complication of Persistent Subclinical Inflammation in Children with Familial Mediterranean Fever?: Table 1
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F. Kilicbay, Mustafa Koyun, E. Isıyel, G. Duygulu, Elif Çomak, and Sema Akman
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medicine.medical_specialty ,Anemia ,business.industry ,Amyloidosis ,Immunology ,Hepatosplenomegaly ,Familial Mediterranean fever ,MEFV ,medicine.disease ,Compound heterozygosity ,Gastroenterology ,General Biochemistry, Genetics and Molecular Biology ,Rheumatology ,Internal medicine ,medicine ,Immunology and Allergy ,Family history ,medicine.symptom ,Complication ,business - Abstract
Background Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder characterized by attacks of painful inflammation. Some patients with FMF have subclinical inflammation persisting between the attacks. This subclinical inflammation may leads to many important clinical complications such as anemia, splenomegaly, decreased bone density, and amyloidosis. Objectives The aims of this study were to evaluate sonographic findings in patients with familial Mediterranean fever (FMF) during attack-free periods and examine whether there is an association between hepatosplenomegaly and inflammatory markers in FMF. Methods Medical records of children with FMF were reviewed during attack-free periods. Demographic features, clinical and laboratory findings, hematological data (leukocyte, hemoglobin and platelet counts),er ythrocyte sedimentation rate (ESR), SAA and C-reactive protein (CRP) levels, type of MEFV mutation, family history of FMF were collected from the hospital9s computerized database following approval by the local ethics committee. Results A total of 136 patients, 74 (54.4%) girls were included in this cross sectional study during non-attack period. Median age of 11.25 years (2–18 years) and median follow-up period were 18 months (3–129 months) at time of sonographic evaluation. Thirty one patients (22.8%) had parental consanguinity and 472 (52.9%) patients had family history of FMF. Thirty three patients (24.3%) patients were homozygous, 61 (44.9%) patients were compound heterozygous and 42 (30.9%) patients were heterozygous for MEFV gene. Hepatomegaly and splenomegaly were found in 22 (16.2%) and 32 patients (23.5%), respectively. Ten patients had both hepatomegaly and splenomegaly. Spleen size had a negative correlation with platelet count and a positive correlation with ESR, CRP and SAA (all p Conclusions Hepatomegaly and splenomegaly are not uncommon in FMF, which might be due to the chronic inflammatory characteristics of the disease. We speculate that FMF is a chronic inflammatory disease rather than episodic illness. Disclosure of Interest None declared
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- 2016
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9. AB0890 Effect of Colchicine Treatment on Hematological Parameters in Children with Familial Mediterranean Fever
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Comak, E., primary, Tufekci, O., additional, Kilicbay, F., additional, Dortbas, F., additional, Melek, E., additional, Koyun, M., additional, and Akman, S., additional
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- 2014
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10. FRI0534 Immunization Status of Vaccine-Preventable Diseases in Children with Juvenile Idiopathic Arthritis
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Comak, E., primary, Akman, S., additional, Koyun, M., additional, and Tufekci, O., additional
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- 2014
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11. FRI0534 Immunization Status of Vaccine-Preventable Diseases in Children with Juvenile Idiopathic Arthritis
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Sema Akman, Elif Çomak, Mustafa Koyun, and O. Tufekci
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Pediatrics ,medicine.medical_specialty ,business.industry ,Immunology ,Hepatitis A ,Hepatitis B ,medicine.disease ,Measles ,Rubella ,General Biochemistry, Genetics and Molecular Biology ,Vaccination ,Rheumatology ,Immunology and Allergy ,Medicine ,Outpatient clinic ,Polyarthritis ,Vaccine-preventable diseases ,business - Abstract
Background Immunization is the least invasive and most cost-effective approach to reduce the incidence of infections and morbidity and mortality in children. Since patients with juvenile idiopathic arthritis (JIA) are at increased risk of infections, immunisations are important. However, despite a literature about on the safety and immunogenicity of individual vaccines in the JIA patients, parental or physician9s reluctance to vaccinate because of fear of inducing flare of the disease or avoidance of vaccination during periods of active disease. Objectives To evaluate the vaccination antibody titers of patients with JIA followed at our paediatric rheumatology clinic and to determine the immunization status of vaccine-preventable diseases. Methods During the period from 1 November 2012 to 31 March 2013, consecutive patients with JIA visited at our pediatric rheumatology outpatient clinic were included. Demographic data, disease duration, physical examination findings and medications used for JIA treatment were documented. The antibody titers against measles, mumps, rubella, varicella, hepatitis A and hepatitis B were determined. Results The study included 72 children, 42 girls (58.3%), with a median age of 11.0±4.1 years and a mean follow-up period of 37.6±31.0 months. Patients were classified according to JIA subgroups as oligoarthritis in 28 (38.9%), rheumatoid factor-negative polyarthritis in 11 (15.3%), rheumatoid factor-positive polyarthritis in 1 (1.4%), systemic arthritis in 12 (16.7%), enthesitis-related arthritis in 18 (25.0%) and psoriatic arthritis in 2 (2.8%) patients. Seropositivity rate was 95.8% for rubella, 86.1% for measles, 83.3% for varicella, 73.6% for mumps and hepatitis B, and only 12.5% for hepatitis A. Median antibody titers were 169.3 IU/mL (range:15.7-1000) for hepatitis B, 87.4 IU/mL (range: 8.8-440) for rubella, 6.5 IU/mL (range: 1.2-13.7) for varicella, 4.2 IU/mL for measles (range: 1.2-12.7 IU/mL) and 2.7 IU/mL (range: 1.2-7.9) for mumps. None of the patients had protective antibodies against all tested pathogens. Only 25 (34.7%) patients showed protective antibodies against tested pathogens excluding hepatitis A. The lowest individual vaccination rate was for hepatitis A (12.5%). Conclusions Monitoring for immunization status should be a part of primary care of children with JIA. According to EULAR recommendation, JIA patients can be vaccinated safely. Our results showed the demand for continuous surveillance of specific antibody titers against vaccine-preventable diseases in children with JIA. Disclosure of Interest None declared DOI 10.1136/annrheumdis-2014-eular.5204
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- 2014
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12. AB0890 Effect of Colchicine Treatment on Hematological Parameters in Children with Familial Mediterranean Fever
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E. Melek, O. Tufekci, Elif Çomak, F. Dortbas, F. Kilicbay, Mustafa Koyun, and Sema Akman
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medicine.medical_specialty ,Leukopenia ,Side effect ,business.industry ,Immunology ,Familial Mediterranean fever ,Neutropenia ,medicine.disease ,MEFV ,Compound heterozygosity ,Gastroenterology ,General Biochemistry, Genetics and Molecular Biology ,chemistry.chemical_compound ,Rheumatology ,chemistry ,Internal medicine ,Absolute neutrophil count ,medicine ,Immunology and Allergy ,Colchicine ,medicine.symptom ,business - Abstract
Background Familial Mediterranean Fever (FMF) is an inherited autosomal recessive disorder, caused by MEditerraneanFeVer gene (MEFV) mutations. Colchicine therapy leads to remission of the symptoms in the majority of the FMF patients. Some hematological side effects, particulary leukopenia has been reported with the use of colchicine. On the other hand, a few recent reports suggested that leukopenia apart from a side effect of colchicine treatment may be caused by FMF itself. Objectives To evaluate hematological features of children with FMF at the time of diagnosis and during the treatment period. Methods The medical records of patients with FMF were reviewed retrospectively. The following variables were evaluated: demographic characteristics, dosage of colchicine, and the presence of attacks despite colchicine, mutation analysis, hematological parameters (leukocyte, neutrophil, lymphocyte, monocytes, hemoglobin and platelet counts) at the time of diagnosis, and in the first and third month. Children were divided into two groups according to their age: group I Results A total of 51 children, 25 girls (49.0%), with a mean age of 7.47±9.87 years at diagnosis and disease duration of 13.12±9.87 months, were included. Thirteen (25.5%) patients had parental consanguinity and 18 (35.3%) patients had family history of FMF. Seven (13.7%) patients were homozygous, 18 (35.3%) patients were compound heterozygous and 18 (35.3%) patients were heterozygous for MEFV gene. Eight (15.7%) patients had complex allele mutations (≥3 mutations). Colchicine treatment was started in all patients. The dosage of colchicine needed to control the disease symptoms was 0.95±0.31 mg/day. Comparison of the leukocyte, neutrophil, lymphocyte, monocyte and platelet counts at the time of diagnosis and in the first and third months of controls, revealed no significant differences (p>0.05 for all). But, mean hemoglobin level at time of diagnosis was significantly lower than the value in the third month of colchicine treatment (p=0.001). Hemoglobin levels of Group I were significantly lower than the group II; on the other hand lymphocyte count were significantly higher in the Group I at time of diagnosis (p=0.03, p=0.02, respectively). In group I, lymphocyte counts were higher than the third month of colchicine treatment compared to time of diagnosis (p=0.01).We did not observe leukopenia in any of the patients but one patient was found to have neutropenia (neutrophil count: 1200x10 3 /μL) at the time of diagnosis. Conclusions Hemoglobin levels were found to be increased in all FMF patients during colchicine treatment, which might be due to the chronic inflammatory characteristics of the disease. Colchicine treatment seems to have favourable effects on hematological parameters, particularly in young children ( Disclosure of Interest None declared DOI 10.1136/annrheumdis-2014-eular.5219
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- 2014
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13. AB1138 Vitamin D levels and disease activity in children with systemic lupus erythematosus
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Comak, E., primary, Koyun, M., additional, Akbas, H., additional, Dogan, C.S., additional, Uslu Gokceoglu, A., additional, and Akman, S., additional
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- 2013
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14. SAT0437 Mediterranean Fever Gene: Evaluation of Clinical Presentations in Turkish Children
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Comak, E., primary, Dogan, S. C., additional, Uslu Gokceoglu, A., additional, Keser, I., additional, Artan, R., additional, Yilmaz, A., additional, Bilgen, T., additional, Sayar, E., additional, İslek, A., additional, Koyun, M., additional, and Akman, S., additional
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- 2013
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15. AB0680 Prevelance of mefv gene mutations in children with celiac disease
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Comak, E., primary, Dogan, S. C., additional, Uslu Gokceoglu, A., additional, Keser, I., additional, Artan, R., additional, Yilmaz, A., additional, Bilgen, T., additional, Sayar, E., additional, İslek, A., additional, Koyun, M., additional, and Akman, S., additional
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- 2013
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16. FRI0339 Prevelance of MEFV gene mutations in chidren with juvenil idiopathic arthritis
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Comak, E., primary, Koyun, M., additional, Bilgen, T., additional, Dogan, C.S., additional, Uslu Gokceoglu, A., additional, and Akman, S., additional
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- 2013
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17. AB1137 Association between vitamin d deficiency and disease activity in juvenile idiopathic arthritis
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Comak, E., primary, Koyun, M., additional, Özdem, S., additional, Dogan, C.S., additional, Uslu Gokceoglu, A., additional, and Akman, S., additional
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- 2013
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18. AB1139 Chronic recurrent ostemomyelitis in three siblings
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Uslu Gökceoglu, A., primary, Durmaz, E., additional, Dogan, C.S., additional, Comak, E., additional, Koyun, M., additional, and Akman, S., additional
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- 2013
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19. AB1137 Association between vitamin d deficiency and disease activity in juvenile idiopathic arthritis
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Sema Akman, Mustafa Koyun, A. Uslu Gokceoglu, Cagla Serpil Dogan, Sebahat Ozdem, and Elif Çomak
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medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Immunology ,Arthritis ,Physical examination ,Disease ,medicine.disease ,Gastroenterology ,General Biochemistry, Genetics and Molecular Biology ,vitamin D deficiency ,Disease activity ,Endocrinology ,Rheumatology ,Internal medicine ,Vitamin D supplement ,medicine ,Vitamin D and neurology ,Immunology and Allergy ,Juvenile ,business - Abstract
Background Beyond its traditional metabolic effects, vitamin D also have immunomodulatory and anti-inflammatory properties. Serum levels of vitamin D have been found to be low in several autoimmune or immune-mediated diseases. Objectives The aims of this study were to evaluate the vitamin D status in patients with juvenile idiopathic arthritis (JIA), and also to examine whether there is an association between serum levels of 25-hydroxyvitamin D (vitamin D) and disease activity in JIA. Methods The children withJIA who had an outpatient visit between March and April 2011 were evaluated retrospectively. Demographic data, disease duration, treatment modalities, physical examination findings, disease activity, sedimentation, and vitamin D levels were evaluated. Disease activitywas calculatedwithJADAS-27. Serum vitamin D levels were measured by high-performance liquid chromatography (HPLC) method. Results A total of 47 patients, 29 (61.7%) girls with a mean age of 9.3±3.9 years and median follow-up period of 28 months, were included in the study. 12 patients(25.5%) wereusing vitamin D supplement at the time of the study. The mean serum vitamin D level of all patients was 17.74 ng/ml ±11.66. Vitamin D insufficiency (serum vitamin D: 15-20 ng/ml) and deficiency (serum vitamin D level 20 ng/ml). There is a significant negative correlation between Vitamin D levels and disease activity (p=0.01, r=-0,37). Conclusions Vitamin D deficiency is common in children with JIA. There is a relationship between vitamin D levels and disease activity. Clinicians should be aware of vitamin D deficiency in patients with JIA. Disclosure of Interest None Declared
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- 2013
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20. AB1139 Chronic recurrent ostemomyelitis in three siblings
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Cagla Serpil Dogan, Elif Çomak, Mustafa Koyun, Sema Akman, A. Uslu Gokceoglu, and E. Durmaz
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myalgia ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Osteomyelitis ,Immunology ,Osteoporosis ,Physical examination ,Cushingoid ,Sequela ,Osteopetrosis ,medicine.disease ,General Biochemistry, Genetics and Molecular Biology ,Surgery ,Rheumatology ,medicine ,Immunology and Allergy ,Femur ,medicine.symptom ,business - Abstract
Background Chronic recurrent osteomyelitis(CRMO) is an autoinflammatory disease.The disease is mostly benign,but there is a few case reports with sequela, growth retardation and bone deformities.The disease is characterised by osteolytic and sclerotic bone lesions,multifocal bone involvement,high acute phase reactants, chronic duration and sterile bone biopsy. Three siblings with the diagnosis of CRMO will be presented. Objectives CASE 1:A girl at 11,5 years old had admitted to our hospital with swelling of mandibula, restriction of multiple joints during 5 years and no ability to walk during 8 months.Biopsy of the lesion at the mandibula was done at a different hospital and there were nonspecific findings in the pathology specimens.She had antibiotic therapies for infection at different times. At admission, she had diffuse mandibular swelling bilaterally, artritis in ankle, knees, elbows and wrists bilaterally.There was sclerotic bone lesions at tibia and diffuse osteoporosis at extremity graphies.There was diffuse activity of mandibula and focal activity at right femur at total body bone scintigraphy.Erytrocyte sedimentation rate(ESR) was 120 mm/hour.Antinuclear antibody tests were negative.She had osteoporosis at bone densitometry.Temporomandibular joint MR and extremity MR findings were related to the findings seen in CRMO.Oral corticosteroid 20mg/day and colchicine treatment with intravenous pamidronate infusion were started. After 3 months of therapy she had begun to walk with support.At that time as she had osteoporosis, corticosteroid dose was reduced to 10 mg/day and azathiopurine was started.After therapy during 6 months, she had begun to walk without any support. With immunosupressive therapy she had pamidronate infusions 5 times in every 3 months. After 1 year of therapy she is in clinical and laboratory remission. Methods CASE 2:Nine years old brother had myalgia at lower extremities during four years. His physical examination was normal.ESR was 120 mm/hour.He had osteopetrosis and sclerotic bone lesions of femur at lower extremity graphies.The findings of lower extremity MR was related to the findings seen in CRMO.Nonsteroidal antiinflammatory(NSAID) treatment and later corticosteroid 20mg/day and pamidronate therapy were started.After 1.5 months of therapy,he had no complaint and ESR was normal.As he had cushingoid apperance, corticosteroid dose was decreased to 10mg/day and cyclophosphamide was started. With immunosupressive treatment he had pamidronate infusion 5 times in every 3 months.After 3 months of therapy,he is in clinical and laboratory remission. Results CASE 3:13 years old brother had pain in lower extremity during 6 months.His physical examination was normal.ESR was 90 mm/hour.There was sclerotic bone lesions on X ray of foot.The findings on lower extremity MR were related to the findings in CRMO. NSAID and later corticosteroid therapy(20mg/day) were started.He had cushingoid apperance, so corticosteroid was stopped and azathiopurine was started.After 1 months of therapy he had clinical and laboratory remission.LPIN 2 mutation was negative in three siblings. Conclusions CRMO should be thought when chronic and sclerotic bone lesions were confirmed.The family members should be assesed for symptoms.As an initial therapy, pamidronat and corticosteroid were effective and as maintanance therapy low dose corticosteroid and azathiopurine were effective. Disclosure of Interest None Declared
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- 2013
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21. SAT0437 Mediterranean Fever Gene: Evaluation of Clinical Presentations in Turkish Children
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Turker Bilgen, A. Uslu Gokceoglu, Aygen Yilmaz, Mustafa Koyun, Ali Islek, Elif Çomak, Reha Artan, Ersin Sayar, S. C. Dogan, Sema Akman, and Ibrahim Keser
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Pediatrics ,medicine.medical_specialty ,business.industry ,Polyarteritis nodosa ,Immunology ,Familial Mediterranean fever ,Disease ,Gene mutation ,medicine.disease ,MEFV ,Compound heterozygosity ,General Biochemistry, Genetics and Molecular Biology ,Rheumatology ,medicine ,Immunology and Allergy ,Allele ,Family history ,business - Abstract
Background Familial Mediterranean Fever (FMF) is an inherited autosomal recessive disorder, caused by MEditerranean FeVer gene (MEFV) mutations. Recent studies suggest that MEFV gene mutations may be related to some clinical situations and rheumatologic diseases other than FMF. Objectives The purpose of the present study was to review the clinical findings and demographic features of children with MEFV gene mutations. Methods The medical records of patients with MEFV mutations who were analyzed between 2003 and 2012 in the department of Medical Biology at Akdeniz University, Antalya, Turkey were reviewed retrospectively. Each sample was screened for the mutations located in exon 2 and exon 10 of the MEFV gene by direct sequencing. Results A total of 559 children, 264 girls (47.2 %), with a mean age of 8.22±4.64 years (1-18 years) were included. 72 patients (12.9%) had parental consanguinity and 198 (35.4%) had a family history of FMF in first-degree relatives. 179 patients (32%) were homozygous, 87 (%15.6) were compound heterozygous and 289 (%51.7) heterozygous for the MEFV gene. Four patients (0.7%) had complex allele mutations (M694V/M694V-E148Q in 3 patients, M694I- E148Q/ E148Q in one patient). Patiens were classified according to final diagnosis as FMF in 334 patients (59.7%), juvenil idiopathic arthritis in 29 (5.2%), Henoch-Schonlein purpura in 25 (4.5%), polyarteritis nodosa in 2 (0.4%), celiac disease in 6 (1.1%), Chron’s disease in 3 (0.5%), Behcet disease in 2(0.4%) and uveitis in 2 (0.4%). 36 patients (6.44%) were classified as normal as they did not have any specific complaints, 12 of whom had homozygous, 21 heterozygous and 3 compound heterozygous for MEFV gene. 132 (23.6%) heterozygous mutation carriers may suffer from a mild or incomplete form of FMF, also called ‘FMF-like’ disease. But none of them not have accurrate FMF diagnosis. Conclusions These data suggest that mutations of the MEFV gene may present with varied distinct clinical presentations, other than FMF. And also clinicians should be aware of higher rate of homozygous or compound heterozygous MEFV mutations identified by chance, such as during family screenings, in individuals who do not present with typical manifestations of FMF especially in countries where FMF is frequent. Disclosure of Interest None Declared
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- 2013
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22. FRI0339 Prevelance of MEFV gene mutations in chidren with juvenil idiopathic arthritis
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Elif Çomak, Mustafa Koyun, Turker Bilgen, Cagla Serpil Dogan, A. Uslu Gokceoglu, and Sema Akman
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Genetics ,education.field_of_study ,business.industry ,Immunology ,Population ,Arthritis ,Familial Mediterranean fever ,Gene mutation ,Compound heterozygosity ,MEFV ,medicine.disease ,General Biochemistry, Genetics and Molecular Biology ,Exon ,Rheumatology ,medicine ,Immunology and Allergy ,education ,business ,Allele frequency - Abstract
Background Mutations of the MEFV gene, which encodes pyrin protein, a negative regulator of inflammation, leads to Familial Mediterranean Fever (FMF). Recent studies with adults suggest that MEFV gene mutations may have a risk factor for other rheumatic diseases. Objectives In this study, we aimed to study the frequency of MEFV gene mutations in children with Juvenile Idiopathic Arthritis (JIA). Methods Children with JIA who had no typical symptoms of familial Mediterranean fever (FMF) were screened for the mutations in exon 2 and exon 10 of the MEFV gene. Each sample was screened for the mutations located in exon 2 and exon 10 of the MEFV gene by direct sequencing. Results A total of 52 children, 29 girls (55.8%), with a mean age of 9.6±4.4 years (2-16.6 years) were included. Patients were classified according to JIA subgroups as oligoarthritisin 26 (50%), polyarthritisin 13 (24.8%), systemic arthritis in11 (21.2%) patients and arthritis related with enthesitis and with inflammatory bowel disease one each. Eleven patients (21.2%) were heterozygous, two (3.8%) were homozygous and another two were compound heterozygous for MEFV gene. The allele frequency of MEFV mutations was found to be 18.2%, which is higher than the general population. No significant difference was found between the subgroups of JIA. Conclusions These finding suggest that mutations of the MEFV gene may present with varied distinct clinical presentations other than FMF. The MEFV gene may be responsible for diseases other than FMF. Disclosure of Interest None Declared
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- 2013
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23. AB0680 Prevelance of mefv gene mutations in children with celiac disease
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Ersin Sayar, Aygen Yilmaz, Mustafa Koyun, Sema Akman, S. C. Dogan, Ali Islek, Elif Çomak, Turker Bilgen, A. Uslu Gokceoglu, Ibrahim Keser, and Reha Artan
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medicine.medical_specialty ,Pathology ,education.field_of_study ,business.industry ,Immunology ,Population ,Familial Mediterranean fever ,Autoimmune enteropathy ,Gene mutation ,MEFV ,medicine.disease ,Gastroenterology ,General Biochemistry, Genetics and Molecular Biology ,Exon ,Rheumatology ,Internal medicine ,medicine ,Immunology and Allergy ,Mutation frequency ,business ,education ,Allele frequency - Abstract
Background Celiac disease is an autoimmune enteropathy caused by permanent sensitivity to gluten in genetically susceptible individuals. Mutations of the MEFV gene, which encodes pyrin protein, a negative regulator of inflammation, leads to Familial Mediterranean Fever. A large number of diseases have been reported to be associated with MEFV mutations, many with a probable immunological pathogenesis. Familial Mediterranean Feverand celiac disease had some similar clinical features including abdominal pain, diarrhea, arthralgia, and arthritis. Objectives In this study, we aimed to determine whether there is any relationship between children with celiac disease and MEFV gene mutations. Methods Children who had fulfilled the criteria of European Society of Paediatric Gastroenterology, Hepatology, and Nutrition for the diagnosis of celiac disease, were screened for the mutations in exon 2 and exon 10 of the MEFV gene. No children had any typical symptom of Familial Mediterranean Fever. Each sample was screened for the mutations located in exon 2 and exon 10 of the MEFV gene by direct sequencing. Results A total of 38 children, 22 girls (57.8 %), with a mean age of 9.44±4.58 years (2-17 years) were included. Five patients (13.15%) were heterozygous for MEFV gene, two of whom (5.3%) had p.M694Vmutation, one (%2.6) had p.E148Q mutation, one (%2.6) p.P646L mutation, and one (%2.6) p.V726A mutation. Only one patient (2.6%) was homozygous for MEFV gene (homozygous p.E148Q mutation). The allele frequency and carrier rate of MEFV mutations was found to be 9.2% and 15.8, respectively, which were similar to the general population (11% and 20%; p=0.75, p=0.83, respectively). Conclusions MEFV mutation frequency in patients with celiac disease was similar to the normal population in Turkey. We do not recommend screening for MEFV mutations in every patient with celiac disease even in countries where FMF is frequent. Disclosure of Interest None Declared
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- 2013
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24. AB1138 Vitamin D levels and disease activity in children with systemic lupus erythematosus
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Cagla Serpil Dogan, Halide Akbas, Mustafa Koyun, A. Uslu Gokceoglu, Elif Çomak, and Sema Akman
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medicine.medical_specialty ,Vitamin d supplementation ,business.industry ,Immunology ,Disease ,medicine.disease ,Gastroenterology ,General Biochemistry, Genetics and Molecular Biology ,vitamin D deficiency ,Rheumatology ,Disease activity ,Immune system ,Endocrinology ,Internal medicine ,Cohort ,medicine ,Vitamin D and neurology ,Immunology and Allergy ,skin and connective tissue diseases ,business - Abstract
Background 25 (OH) D3 (vitamin D) has an important role in preserving immune homoeostasis. Several surveys of rheumatology populations found reduced levels of vitamin D and association between vitamin D deficiency and disease activity. Objectives To assess whether low serum vitamin D concentrations are related to disease activity of children with systemic lupus erythematosus (SLE). Methods We retrospectively evaluated medical records of children with SLE retrospectively. Disease activitywas calculatedwithSLE disease activity (SLEDAI) score on the day the serum samples were drawn. Serum vitamin D level was measured by high-performance liquid chromatography (HPLC) method. Results The study included 13 children,9 females (84.6%), with a mean age of 14.45±3.79 years and mean follow-up period of 24.1±20.34 months. The average level of serum vitamin D level was 23.92±16.7 ng/ml and SLEDAI score was 6.53±5.91. 4 children, whohave significantly lower vitamin D levels ( Conclusions In a cohort of patients with SLE originating from Turkey, vitamin D serum concentrations were found to be inversely related to disease activity. Vitamin D levels of children with SLE should be evaluated regularly and vitamin D supplementation should be given if necessary. Disclosure of Interest None Declared
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- 2013
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