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    Evaluation of Osteoarticular Involvement Associated with Brucellosis in Children
    (Duzce Univ, Fac Medicine, 2025) Kutlu Beseren, Tugba Nur; Bekis Bozkurt, Hayrunnisa; Erguven, Mueferet; Bicakci, Zafer
    Aim: Brucellosis is a significant public health problem with high morbidity. Its most frequent complication is osteoarticular involvement. The study aimed to evaluate the relationship of osteoarticular involvement with clinical features and prognosis in children with brucellosis. Material and Methods: This retrospective study included pediatric patients between the ages of 1 and 18 years who were hospitalized and diagnosed with brucellosis between 2015 and 2020, and were regularly followed up. Aand all their findings and osteoarticular involvement data within the last two years were recorded. Clinical features, laboratory findings, osteoarticular involvement, and relapse rates of the patients were evaluated. Results: A total of 80 patients were included study. During the follow-up period, relapse developed in 14 (17.5%) patients. The most commonly affected joints were right (40%, n=32) and left (26.3%, n=21) hips, then right (27.5%, n=22) and left (23.8%, n=19) knees. Shoulder joint involvement rates and C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), alanine transaminase (ALT), and aspartate aminotransferase (AST) levels were statistically significantly higher in the relapse group (p=0.016, p=0.003, p=0.001, p<0.001, p<0.001, respectively). There was no significant difference in demographic characteristics, clinical features, and treatment responses of the patients between age groups, except weakness and sweating complaints that were high among older children (p=0.036). Conclusion: High admission ALT, AST, CRP, and ESR levels in brucellosis cases with osteoarticular involvement and the presence of shoulder joint involvement, albeit rarely, can be a warning sign in terms of relapse. Patients should be closely followed up in terms of brucellosis complications.
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    Increasing Importance of Genotype-Phenotype Correlations Associated with Common and Rare MEFV Gene Mutations in FMF Patients in the Last Thirty Years
    (Mdpi, 2025) Yildirim, Sema; Bekis Bozkurt, Hayrunnisa; Erguven, Muferet
    Background/Objectives: Studies have shown that some mutations, especially M694V, are correlated with renal RI and/or AA. There are limited data about rare mutations on severity of the disease and RI. Today, evaluating genotype-phenotype correlations in rare mutations is important to better understand FMF. We aimed to evaluate clinical, demographic and genetic changes and genotype-phenotype correlations in pediatric patients with FMF over thirty years as well as the importance of the rare mutations. Methods: A total of 2765 pediatric patients with FMF were included in this study. Genetic results were firstly divided into ten groups including rare mutations. Rare mutations were seen in 2% of all patients and divided into eight groups. Results: There was a significant increase in compound heterozygous mutations, E148Q het/hom, R202Q het/hom, complex mutations and rare mutations in the last decade. RI wo AA was 5.8% and AA was 1% in the patients with rare mutations. While M694V and compound het with M694V were positively correlated with severe PRAS, E148Q and V726A were negatively correlated with severe PRAS (p < 0.05, R = 0.137, R = -0.077, R= -0.05, respectively). Although K695R mutation was negatively correlated with severe PRAS (p < 0.05, R = -0.04), the rate of RI was 20%. Although the rare mutation R761H was negatively correlated with severe PRAS (p < 0.05, R = -0.051), the colchicine resistance rate was 8.3%. Conclusions: It may be misleading for clinicians that mutations which have increased in frequency over the years are clinically mild. RI and AA rates in rare mutations are not less than the related rates in common mutations.
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    Renal involvement, presence of amyloidosis, and genotype-phenotype relationship in pediatric patients with Familial Mediterranean fever: a single center study
    (Springer, 2023) Bekis Bozkurt, Hayrunnisa; Yıldırım, Sema; Ergüven, Mueferet
    The aim of the study is to investigate how renal involvement is correlated with frequency of amyloidosis, risk factors, and demographic and clinical characteristics in pediatric patients with Familial Mediterranean fever (FMF). Demographic and clinical characteristics and laboratory data of the pediatric patients diagnosed with FMF between 1990 and 2018 were recorded from their files. The diagnosis of patients with amyloidosis (AA) was proven by renal biopsy, and as for patients with non-amyloidosis renal involvement (RI wo AA), amyloidosis could not be detected but they were followed up with the diagnosis of proteinuria and/or hematuria. A total of 1929 FMF pediatric patients were included in the study. About 962 (49.9%) participants were male. There were 134 (6.9%) patients with RI wo AA and 23 (1.2%) patients with AA diagnosed by biopsy. The most common M694V heterozygous/homozygous(het/hom) (31%) mutation was observed. Delay in diagnosis and presence of colchicine resistance were more in patients with RI wo AA and AA (p < 0.05). M694V het/hom mutation was high in both RI wo AA and AA, while the presence of compound heterozygous with M694V mutation was high in RI wo AA (p < 0.01, p = 0.02, p = 0.048, respectively). There was a positive correlation between M694V mutation and monoarthritis/polyarthritis, between compound heterozygous with M694V mutations and presence of chest pain, and between V726A mutation and constipation. Also a negative correlation was found between E148Q and chest pain and between R202Q mutation and monoarthritis/polyarthritis. While M694V mutation increased the risk 2.6 times for AA and 1.7 times for RI wo AA, colchicine resistance increased the risk 33 times for AA and 25 times for RI wo AA.Concluson: It was concluded in the present study that M694V mutation and colchicine resistance were two important risk factors for RI wo AA (6.9%) and amyloidosis (1.2%) in FMF patients. It should be kept in mind that compound heterozygous with M694V mutations may be associated with chest pain and R202Q mutation may be negatively correlated with arthritis, unlike M694V. The genetic results and clinical findings of the patients should be evaluated together and followed up closely.