Browsing by Author "Kilic, Sara Sebnem"
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Publication Central nervous system variations and abnormalities in anhidrotic ectodermal dysplasia (aed): Neuroimaging findings(Sage Publications Ltd, 2020-01-30) Dusak, Abdurrahim; Hafizoglu, Demet; Kilic, Sara Sebnem; Yazici, Zeynep; 0000-0002-4363-5861; 0000-0001-8571-2581; AAH-1658-2021; AAI-2303-2021Background Anhidrotic ectodermal dysplasia (AED) is a rare, mostly X-linked recessive genodermatosis, characterized by congenital defects of ectodermal derivative structures as the central nervous system (CNS) is primarily ectodermal in origin. Purpose To evaluate CNS variations and abnormalities in AED. Material and Methods A retrospective analysis was made of the neurological and neuroimaging findings of 17 children (12 boys, 5 girls; median age = 8 years; age range = 2-14 years) diagnosed with AED in our pediatric clinics during 2008-2016. The pattern of CNS variation and abnormalities were evaluated by comparing of these findings with an age- and gender-matched healthy control group with no family history. Results Of the 17 AED cases identified on the basis of neuroimaging findings, 6 (35.3%) were seen to be normal. Associated CNS variation and abnormalities including cavum septum pellucidum (35.3%), callosal dysgenesis (11.8%), prominent Virchow-Robin spaces (64.7%), cortical sulcal dilation (41.1%), mega cisterna magna (35.3%), focal cortical dysplasia (11.8%), and delayed myelination (58.8%) were observed in 11 (64.7%) children with AED. Conclusion AED suggests a spectrum of CNS variation and abnormalities, presenting with neurological and neuroimaging findings, demonstrated in the embryonic surface- and neuro-ectoderm derived structures. The results of this study suggest that CNS variation and abnormalities might be associated with AED.Publication Clinical features of children with chronic non-bacterial osteomyelitis: A multicenter retrospective case series from Turkey(Turkish League Against Rheumatism, 2021-09-01) Acari, Ceyhun; Comak, Elif; Turkucar, Serkan; Dundar, Hatice Adiguzel; Akman, Sema; Makay, Balahan; Unsal, Sevket Erbil; Cekic, Sukru; ÇEKİÇ, ŞÜKRÜ; Kilic, Sara Sebnem; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; 0000-0002-9574-1842; 0000-0001-8571-2581; 0000-0001-7131-8911; ACH-9790-2022; L-1933-2017; C-1860-2016; JZU-0721-2024; AAH-1658-2021; HQZ-1577-2023; C-1642-2016Objectives: This study aims to evaluate demographic, clinical, and radiological characteristics of Turkish children with chronic non-bacterial osteomyelitis.Patients and methods: Between January 2008 and December 2018, a total of 28 patients (10 males, 18 females; median age: 12.5 years; range, 4.5 to 21 years) who were diagnosed with chronic non-bacterial osteomyelitis in three pediatric rheumatology centers were retrospectively analyzed. The demographic, clinical, and laboratory findings of the patients were recorded.Results: The median age at the time of diagnosis was 10.2 years. The median time from symptom onset to diagnosis was 6.5 months. The median follow-up was 18.5 months. The most frequent symptom at onset was arthralgia (75.0%). The most frequently involved bone was the femur (67.9%). Eight (63.6%) of 12 patients had at least one Mediterranean fever gene (MEFV) mutation, indicating a significantly higher prevalence than the Turkish population (14.8%). Five of these patients fulfilled the diagnostic criteria for familial Mediterranean fever (FMF). All patients received non-steroidal anti-inflammatory drugs. Other drugs were methotrexate (46.4%), sulfasalazine (39%), corticosteroids (25%), anti-tumor necrosis factor (anti-TNF) agents (32%), pamidronate (25%), and colchicine (21.4%). Six of eight patients with MEFV mutations were administered with colchicine, and all of them responded to treatment.Conclusion: Clinical evolution and imaging investigations should be carefully performed to prevent any delay in the diagnosis of patients with chronic non-bacterial osteomyelitis. Based on our study results, FMF coexistence is worth investigating in patients with chronic non-bacterial osteomyelitis, particularly in the Turkish population.Publication Consensus Middle East and North Africa registry on inborn errors of immunity(Springer/plenum Publishers, 2021-05-29) Aghamohammadi, Asghar; Rezaei, Nima; Yazdani, Reza; Delavari, Samaneh; Kutukculer, Necil; Topyildiz, Ezgi; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif; Kose, Hulya; Gulez, Nesrin; Genel, Ferah; Reisli, Ismail; Djenouhat, Kamel; Tahiat, Azzeddine; Boukari, Rachida; Ladj, Samir; Belbouab, Reda; Ferhani, Yacine; Belaid, Brahim; Djidjik, Reda; Kechout, Nadia; Attal, Nabila; Saidani, Khalissa; Barbouche, Ridha; Bousfiha, Aziz; Sobh, Ali; Rizk, Ragheed; Elnagdy, Marwa H.; Al-Ahmed, Mona; Al-Tamemi, Salem; Nasrullayeva, Gulnara; Adeli, Mehdi; Al-Nesf, Maryam; Hassen, Amel; Mehawej, Cybel; Irani, Carla; Megarbane, Andre; Quinn, Jessica; Marodi, Laszlo; Modell, Vicki; Modell, Fred; Al-Herz, Waleed; Geha, Raif S.; Abolhassani, Hassan; Kilic, Sara Sebnem; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 0000-0002-9454-1603; 0000-0001-6390-1074; 0000-0002-6338-6946; 0000-0002-8403-6128; 0000-0003-4150-5200; 0000-0001-8571-2581; 0000-0002-3343-6949; 0000-0001-8247-6405; 0000-0001-7047-076X; 0000-0002-7232-2629; 0000-0002-3051-3080; 0000-0001-9354-0214; 0000-0002-7209-9359; 0000-0002-7706-3910; 0000-0003-0714-2469; 0000-0002-6019-3751; 0000-0002-7394-1640; Q-6160-2016; IWD-5692-2023; B-4167-2009; R-6749-2017; ABD-5574-2021; HOF-7252-2023; AAH-1658-2021; ABF-5609-2020; AFU-4460-2022; JVE-0572-2024; GMX-2732-2022; IQU-2494-2023; KLE-3682-2024; HKN-1599-2023; B-3465-2014; HHT-0915-2022; IZE-1770-2023; P-3381-2019; T-7687-2017; AFF-7478-2022; M-4655-2018; F-5958-2017; N-5668-2017Background Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis. Methods We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers. Results We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG). Conclusions This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation.