Zehra Serap Arıcı

Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification.

In order to evaluate the genetic epidemiology of deafness in Turkey, we first analyzed the pedigree data obtained from 2,169 families whose children were students of the schools for hearing loss/deafness in 31 cities of Turkey. Single major locus segregation analysis was performed after families were grouped according to hearing status of the parents. The results showed that sporadic phenocopies, autosomal dominant, and autosomal recessive transmission account for 18.2%, 4.9%, and 76.9% of the cases respectively, after exclusion of probands with unequivocal evidence for environmental etiologies. The high frequency of autosomal recessive transmission of this study differs from those of previous ones in Western populations. We subsequently analyzed the data from a subset of 574 unrelated families that were evaluated clinically, including mutation analysis of the GJB2 gene in 406 probands. Biallelic mutations were detected in 22.4% of all probands. They were present in 68.8% of probands whose parents were both deaf, yet in only 9.3% when both parents were hearing and consanguineous without a family history of deafness. Our study shows that GJB2 is the major gene for deafness in Turkey and was amplified in deaf by deaf matings, since assortative mating preferentially affects common genes. Deafness in the remaining families appears to result from mutations at many loci that are less frequent causes of deafness, because consanguinity has a proportionally greater effect on rare genes. Conclusions of this study may be relevant to other populations where consanguineous or assortative mating is present with various frequencies.

Comparing polyarteritis nodosa in children and adults: a single center study

Polyarteritis nodosa (PAN) is a necrotizing vasculitis of medium/small arteries. We aimed to examine the characteristics of adult‐ and childhood‐onset PAN.

Current therapeutic options for managing familial Mediterranean fever

Introduction: Familial Mediterranean fever (FMF) is a monogenic auto-inflammatory disease characterized by recurrent attacks of fever and serositis. Although colchicine prevents the recurrence of FMF attacks and the development of secondary amyloidosis, the major long-term complication of FMF in most of the patients; 5 – 10% of patients may have inadequate symptom control despite good adherence to colchicine in maximally tolerated doses. Areas covered: In this review, we summarize the treatment approaches for FMF patients to prevent and treat acute attacks, control chronic inflammation, and treat special manifestations and complications. Expert opinion: Colchicine remains the gold standard treatment of FMF. Although colchicine prevents the recurrence of FMF attacks and the development of secondary amyloidosis, 5 – 10% of patients do not respond to conventional colchicine treatment in maximally tolerated doses. Based on the findings of hypersecretion of IL-1β in auto-inflammatory diseases as FMF, IL-1 inhibitors have been proposed as a treatment for crFMF. Attack treatment is mainly supportive and biologic drugs such as anti-IL-1 and anti-IL-6 are added to colchicine therapy in secondary amyloidosis.

AB1447-HPR Biopsychosocial status of jia patients: perspectives of daily living activities, disease activity and family impact

Background Juvenile Idiopathic Arthritis (JIA) is the most frequent chronic rheumatic disease during childhood. It can result in disabilities, loss of quality of life and mood changes.1 Furthermore, literature reviewing the effects of arthritis on children and family is inonsistent, with studies showing significant difference or not, compared to healthy children.2 Objectives The purpose of this study is to present results regarding the functional status, psychosocial status and disease activity of children with JIA and their effects on the child’s family. The second aim is to present the correlations between these parameters. Methods The study included children diagnosed with JIA who applied to Hacettepe University İhsan Doğramacı Children’s Hospital Rheumatology Department. After demographic data was collected, all children were assessed with Child Health Assessment Questionnaire (CHAQ) for daily living activities, with the Juvenile Arthritis Disease Activity Score (JADAS) for disease activity and with a newly developed scale from Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation for children with rheumatism by Edibe Ünal(3 for functional and psychosocial status. Cut-off point was accepted as ≤2.7 for disease activity.4 The Family Impact Scale (FIS) was used to assess perspective of parents. Results A hundred and ninety-six children were included in the study. The mean age of children was 12,44±3,97 and female/male ratio was 55,6/44,4. Although the mean JADAS score was 3,33±4,21, it only detected active disease in 81 children. There was a moderate correlation between CHAQ (Pain) and functional scores of Ünal’s scale and JADAS score. CHAQ total score was well correlated with function and psychosocial scores. The correlation between FIS and other scales was very low.Abstract AB1447HPR – Table 1 Descriptives Mean±SD JADAS 3,33±4,21 CHAQ (Total) 0,32±0,38 CHAQ (Pain) 2,31±3,01 CHAQ (General VAS) 3,52±2,99 Function (range: 0–30) 4,09±5,85 Psychosocial (range: 0–30) 13,25±5,76 FIS 43,6±10.12 Function; Psychosocial; Functional and Psychosocial subscales of Ünal’s scale.3 Abstract AB1447HPR – Table 2 Correlations Conclusions Our results show that pain and function alter disease activity in children with JIA. It is seen that psychosocial states of children and their functional states expressed by their own knowledges also affect their daily life. These changes did not affect the wievpoint of the family. References [1] Spiegel L, Kristensen KD, et al. Juvenile idiopathic arthritis characteristics: Etiology and pathophysiology. Seminars in Orhodontics2015, 21(2); 77–83 [2] Susan T. Reisine. Arthritis and the Family. Arthritis Rheum1995, 8(4);265–271. [3]. Kısacık Pınar,Ünal Edibe, et al. Juvenil İdiyopatik Artritli Hastalarda Çok Yönlü Bir Değerlendirme SistemiOluşturulması Delphi Çalışması. 2016, Annals Of Paediatric Rheumatology. [4] Bulasovic Calasan M, De Vries LD, et al. Interpretation of the Juvenile Arthritis Disease Activity Socre: responsiveness, clinically important differences and levels of disease activity in prospective cohorts of patients wiht juvenile idiopathic arhritis. Rheumatology(Oxford)2014, 53(2); 307–312. Disclosure of Interest None declared

Predictors of methotrexate response in turkish children with oligoarticular and polyarticular juvenile idiopathic arthritis

Batu ED, Sönmez HE, Gülhan B, Arıcı ZS, Topaloğlu R, Bilginer Y. Predictors of methotrexate response in Turkish children with oligoarticular and polyarticular juvenile idiopathic arthritis. Turk J Pediatr 2017; 59: 6-12. Methotrexate (MTX) is the most commonly used disease modifying anti-rheumatic drug in juvenile idiopathic arthritis (JIA). We aimed to define predictor factors for response to MTX in Turkish children with oligo- and polyarticular JIA. We reviewed the medical files of 59 oligo- and 57 polyarticular JIA patients seen in the clinic between May 2008 and May 2013 and who received MTX for ≥6 months. MTX responders were defined as having no/low disease activity according to juvenile arthritis disease activity score 71 (JADAS71) at 6 months after MTX initiation. Median age at JIA diagnosis/MTX initiation was 70/78 months. Involvement of the small or upper extremity joints at disease diagnosis and MTX initiation was more frequent; antinuclear antibody (ANA) positivity was less frequent; acute phase reactants, JADAS71 at MTX initiation, and the frequency of polyarticular subtype were higher in MTX non-responders. In multiple logistic regression, oligoarticular JIA subtype and ANA positivity were independent predictors of MTX response.

AB0562 Demographic Characteristics and Distribution of The Vasculitides Frequencies: A Real- Life Experience of Vasculitis Center from Eastern Mediterranean

Background Vasculitides are a heterogeneous group of diseases. The distribution of the type of vasculitis changes not only with age and sex but according to the geographic area as well. The prevalence of each vasculitis is important in guiding the local medical education and raising awareness of doctors and policy makers etc. Objectives This study is aimed to present the distribution of vasculitides in the Pediatric and Adult Vasculitis patient Groups. Methods Hacettepe University is one of the main referral centers in the country. Executive committee of our Vasculitis center consist of physicians from Pediatric and Adult Rheumatology, Nephrology, Radiology and Pathology Departments. Multidisciplinary approach improves management of our patients. All patients starting from October 2014 have been included and defined according to the 2012 revised Chapel Hill nomenclature criteria. Results A total of 882 patients had been newly diagnosed/followed in this period. 205 (23.2%) of them were pediatric patients. The leading vasculitis among adult patients was Behcets Disease whereas in pediatric patients it was HSP (Figure). More than half of the adult Behcets patients (58.4%) had uveitis/neurologic/vascular involvement. Takayasu arteritis was more frequent than giant cell arteritis among the adult patients. There was a female predominance in patients with large vessel vasculitis. Granulomatous polyangiitis was the most common small vessel vasculitis in adults. Finally 23 adult cases of Immunglobulin G4 related disease have been seen.Table 1. Demographic characteristics of each vasculitis Adult patients Pediatric patients Mean age (SD) Mean age (SD) Behçets disease 42.8 (12.9) 11.8 (4.0) Female, % 52.5% 46.1% Takayasus arteritis 38.9 (14.2) 14.3 (4.1) Female, % 91.6% 100% Giant cell (temporal) arteritis 69.5 (8.2) – Female, % 74.2% Poliarteritis nodosa 40.1 (15.3) 11.3 (7.3) Female, % 39.1% 50.0% Kawasaki disease – 4.7 (3.0) Female, % 26.4% Eosinophilic granulomatosis with polyangiitis 52.9 (19.3) 10 Female, % 60% 100% Granulomatosis with polyangiitis 54.1 (15.9) 8.5 Female, % 46.5% 50% IgA Vasculitis (Henoch-Schoenlein purpura) 38.3 (18.5) 7.3 (4.9) Female, % 46.1% 47.7% IgG4related disease 47.8 (17.8) – Female, % 52.2% Others (secondary vasculitis, Buerger, cryoglobulinemic vasculitis, aortitis, etc.) 47.4 (15.6) 13 (5.1) Female, % 50% 50% Conclusions We describe the demographic characteristics and distribution of vasculitides in the eastern Mediterranean. Behcets disease has a high frequency as expected. Also Takayasu arteritis is more frequent than Giant cell arteritis. Microscopic polyangiitis is very rare. Among children Kawasaki was less and Behçet disease markedly more when compared to western Europe figures. The observed differences may be due to genetic modifiers or environmental factors. Disclosure of Interest None declared

AB1062 Investigation of Interaction between Hand Dexterity and Parental Attitude in Children with Juvenile Idiopathic Arthritis

Background There was a gap in the literature about the reason of high prevalence of hand- and wrist-related symptoms in children with juvenile idiopathic arthritis (1). Objectives This study was planned for investigate hand dexterity and the relationship between childrens hand dexterity and parental attitude in children with Juvenil Idiopathic Arthritis (JIA). Methods 34 children with JIA (according to International League Aganist Rheumatism (ILAR) Classification) and 38 healthy children that matched according to age, sex and hand dominance. 9 Hole Peg Test (9PHT) and Functional Dexterity Test (FDT) were used to evaluate hand dexterity for both groups (2,3). Childhood Health Assessment Questionnaire (CHAQ) was applied for assessing daily living activities (4). Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI) and State and Trait Anxiety Inventory (STAI) were applied to investigate parental attitude. Results There was no difference between hand dexterity values of two groups (p>0.05). There was no relationship between Hand Dexterity Scores and CHAQ, BDI, BAI, STAI. Conclusions Consequently, the result of the tests we used have shown that hand dexterity was not affected by parental attitude. References Hoeksma, A.F., Van Rossum, M.A.J., Zinger, W.G.W., Dolman, K.M., Dekker, J.,Roorda, L.D. (2014) High prevalence of hand- and wrist-related symptoms, impairments, activity limitations and participation restrictions in children with juvenile idiopathic arthritis. Journal of Rehabilitation Medicine, 46 (10), 991–996. Gogola, G.R., Velleman, P.F., Xu, S., Morse, A.M., Lacy, B.,Aaron, D. (2013) Hand dexterity in children: Administration and normative values of the functional dexterity test. Journal of Hand Surgery, 38 (12), 2426–2431. Poole, J.L., Burtner, P.A., Torres, T.A., McMullen, C.K., Markham, A., Marcum, M.L. et al. (2005) Measuring Dexterity in Children Using the Nine-hole Peg Test. Journal of Hand Therapy, 18 (3), 348–351. Ozdogan, H., Ruperto, N., Kasapcopur, O., Bakkaloglu, A., Arisoy, N., Ozen, S. ve diğerleri. (2001) The Turkish version of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ). Clin Exp Rheumatol, 19 (4 Suppl 23), S158–162. Disclosure of Interest None declared

Acute phase reactants in the follow-up of patients with FMF

Familial Mediterranean Fever (FMF) is the most common periodic fever syndrome. FMF characterized by recurrent fever, serositis attacks and chronic subclinical inflammation in attack-free periods.

Comorbidities in patients with Familial Mediterranean Fever

Familial Mediterranean Fever (FMF) is the most common periodic fever syndrome, characterized by recurrent fever, serositis attacks. There are limited data on comorbidities seen in patients with FMF.

AB0626 The Impact of Cyclophosphamide Exposure on Menstrual Cycle in Systemic Lupus Erythematosus Patients

Background Systemic lupus erythematosus (SLE) is about 10 times more common in females s and during cytotoxic treatment with cyclophosphamide (CYC) is often used for renal involvement. CYC has significant gonadotoxic effects increasing the risk for primary ovarian insufficiency (POI). Objectives In this study, we aim to assess symptoms of ovarian failure in females with SLE who underwent CYC therapy and to compare menstrual parameters with SLE patients who did not use CYC previously. Methods Eighteen female SLE patients with and without prior CYC exposure were included in the study group. The patients had been followed at the Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey. They all received six pulses of IV CYC. The parameters about menstrual cycles and fertility of patients were evaluated retrospectively. SPSS 15.0 for Windows is used for statistical analysis. Results We enrolled 18 SLE patients, 10 of whom had received CYC therapy previously. Among females with prior CYC exposure (median current age 21 years), the median age at SLE diagnosis was 11 (10-13) years and the median age at initiation of CYC therapy was 11 (10.5-15) years. All had received CYC intravenously with a median cumulative dose of 94 (62-109) mg/kg. Six out of 10 patients had received CYC before menarche. Only one patient had irregular menses after CYC therapy; she had a cumulative dose of 95 mg/kg and CYC was given to her three years before menarch. In the control group (n=7), the median age at SLE diagnosis was 11.5 (9-17.5) years and median current age was 18.25 (14.5-24) years. One patient in the control group also had irregular menses. The patients were interviewed median 10 years (2-14.5) years later. Two pregnancies were reported, one (live birth) in CYC group and the other one (however resulted in abortus) in the control group. There was no significant difference between two groups according to the current age, age at SLE diagnosis, age at menarche, regularity of menses, and number of pregnancies. Conclusions In our study there was no significant difference between two groups of SLE patients (CYC versus CYC-naïve). Previous studies have shown the cumulative dose of CYC and patient age at initiation of CYC therapy determine ovarian toxicity. The young age at onset of CYC therapy in our patients (which is before menarche in six) may be the factor limiting the extent of ovarian damage. References Harward LE, Mitchell K, Pieper C, et al. The impact of cyclophosphamide on menstruation and pregnancy in women with rheumatologic disease. Lupus 2013;22(1):81-6. Marder W, Fisseha S, Ganser MA, Somers EC. Ovarian Damage During chemotherapy in Autoimmune Diseases: Broad Health Implications beyond Fertility. Clin Med Insights Reprod Health 2012;2012(6):9-18. Disclosure of Interest None declared