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Öğe Anormal Uterin Kanamalı Adölesanların Multidisipliner Yaklaşım ile Yönetiminin Değerlendirilmesi(2024) Ertekin, Mehtap; Evin, Ferda; Ayrancı, İlkayAnormal uterin kanama (AUK), uterus korpusundan süre, miktar, sıklık ve/veya düzen açısından anormal olan kanama olarak tanımlanır. Adölesan dönemde en sık karşılaşılan jinekoendokrinolojik problemdir. Çalışmamızda AUK olan 40 adölesanın verileri retrospektif olarak incelendi. Hemoglobin 10-12 gr/dL hafif AUK; hemoglobin 8-9,9 gr/dL orta AUK; hemoglobin <8 gr/dL ağır AUK olarak sınıflandırıldı. Olguların yaş ortalaması 14,38±2,1 (11-17,8) yıldı. Olguların ortanca menstrual siklus aralığı 25 (10-45) gün, ortanca kanama süresi 10 (4-35) gün, ortalama ped sayısı 6,2 ped/gün idi. Olguların %17.5’inde (n=7) ağır AUK, %20’sinde (n=8) orta AUK, %62,5’inde (n=25) hafif AUK mevcuttu. 2 (%5) olguda hafif Von Willebrand Hastalığı saptandı. Kanama etiyolojisinde saptanan en sık etken anovulasyondu (n=34). Hafif AUK olan olgularda kanamaya yönelik tedavide ilk seçenek olarak non-steroid antiinflamatuar ilaçlar (NSAİİ) başlandı. Orta AUK olan adölesanlara (n=8) ve hafif AUK olup NSAİİ ile kanamaları kontrol altın alınamayan olgulara (n=6) 3mg drospirenon ve 30 mcg etinilöstradiol içeren kombine oral kontraseptif (KOK) başlandı. Bu olguların kanamaları KOK ile kontrol altına alındı. Ağır AUK olan olgulara, 3mg drospirenon ve 30 mcg etinilöstradiol içeren KOK günde 2-3 tablet olacak şekilde başlandı. Bu olguların kanamalarının kontrol altına alınamaması nedeniyle tedavilerine traneksamik asit oral olarak eklendi. Ağır AUK olan tüm olgularda kombine tedavi ile kanamalar kontrol altına alındı. Sonuç olarak; adölesan dönemde aşırı ve uzun süreli kanama sadece jinekolojik bir sorun değil, aynı zamanda sosyal bir sorundur. Bu nedenle hastalar çocuk endokrinoloji ve çocuk hematoloji tarafından kapsamlı olarak değerlendirilmeli ve tedavileri multidisipliner olarak planlanmalıdır.Öğe Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta(Walter De Gruyter Gmbh, 2024) Evin, Ferda; Atik, Tahir; Onay, Huseyin; Goksen, Damla; Darcan, Sukran; Cogulu, Ozgur; Ozen, SamimObjectives Osteogenesis imperfecta (OI) is a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. This study aimed to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype in OI patients with whole exome sequencing (WES).Methods Multiplex-Ligation dependent Probe Amplification (MLPA) analysis of COL1A1 and COL1A2 and WES were performed on cases between the ages of 0 and 18 whose genetic etiology could not be determined before using a targeted next-generation sequencing panel, including 13 genes (COL1A1, COL1A2, IFITM5, SERPINF1, CRTAP, P3H1, PPIB, SERPINH1, FKBP10, SP7, BMP1, MBTPS2, PLOD2) responsible for OI.Results Twelve patients (female/male: 4/8) from 10 different families were included in the study. In 6 (50 %) families, consanguineous marriage was noted. The clinical typing based on Sillence classification; 3 (25 %) patients were considered to be type I, 7 (58.3 %) type III, and 2 (16.7 %) type IV. Deletion/duplication wasn't detected in the COL1A1 and COL1A2 genes in the MLPA analysis of the patients. Twelve patients were molecularly analyzed by WES, and in 6 (50 %) of them, a disease-causing variant in three different genes (FKBP10, P3H1, and WNT1) was identified. Two (33.3 %) detected variants in all genes have not been previously reported in the literature and were considered deleterious based on prediction tools. In 6 cases, no variants were detected in disease-causing genes.Results Twelve patients (female/male: 4/8) from 10 different families were included in the study. In 6 (50 %) families, consanguineous marriage was noted. The clinical typing based on Sillence classification; 3 (25 %) patients were considered to be type I, 7 (58.3 %) type III, and 2 (16.7 %) type IV. Deletion/duplication wasn't detected in the COL1A1 and COL1A2 genes in the MLPA analysis of the patients. Twelve patients were molecularly analyzed by WES, and in 6 (50 %) of them, a disease-causing variant in three different genes (FKBP10, P3H1, and WNT1) was identified. Two (33.3 %) detected variants in all genes have not been previously reported in the literature and were considered deleterious based on prediction tools. In 6 cases, no variants were detected in disease-causing genes.Conclusions This study demonstrates rare OI types' clinical and molecular features; genetic etiology was determined in 6 (50 %) 12 patients with the WES analysis. In addition, two variants in OI genes have been identified, contributing to the literature.Öğe Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation(Galenos Publ House, 2024) Ozen, Samim; Goksen, Damla; Evin, Ferda; Isik, Esra; Onay, Huseyin; Akgun, Bilcag; Ata, AysunObjective: Osteogenesis imperfecta (OI) consists of a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. The aim was to investigate the molecular genetic etiology and determine the relationship between genotype and phenotype in OI patients using targeted next-generation sequencing (NGS). Methods: A targeted NGS analysis panel (Illumina TruSight One) containing genes involved in collagen/bone synthesis was performed on the Illumina Nextseq550 platform in patients with a confirmed diagnosis of OI. Results: Fifty-six patients (female/male: 25/31) from 46 different families were included. Consanguinity was noted in 15 (32.6%) families. Based on Sillence classification 18 (33.1%) were type 1 OI, 1 (1.7%) type 2, 26 (46.4%) type 3 and 11 (19.6%) type 4. Median body weight was -1.1 (-6.8, - 2.5) standard deviation scores (SDS), and height was -2.3 (-7.6, - 1.2) SDS. Bone deformity affected 30 dentinogenesis imperfecta (DI), and 2 (3.6%) had hearing loss. Disease-causing variants in COL1A1 and COL1A2 were found in 24 (52.1%) and 6 (13%) families, respectively. In 8 (17.3%) of the remaining 16 (34.7%) families, the NGS panel revealed disease-causing variants in three different genes ( FKBP10, SERPINF1, and P3H1). Nine (23.6%) of the variants detected by NGS panel had not previously been reported and were also classified as pathogenic based on American College of Medical Genetics guidelines pathogenity scores. In ten (21.7%) families, a disease-related variant was not found in any of the 13 OI genes on the panel. Conclusion: Genetic etiology was found in 38 (82.6%) of 46 families by targeted NGS analysis. Furthermore, nine new variants were identified in known OI genes which were classified as pathogenic by standard guidelines.Öğe The Relationship Between Premature Adrenarche and Markers of Inflammation in Complete Blood Count(Galenos Publ House, 2024) Evin, Ferda; Ayranci, Ilkay; Ertekin, MehtapAim: Premature adrenarche (PA) has been associated with metabolic and polycystic ovary syndrome (PCOS) and, thus, with an increased risk for type 2 diabetes and cardiovascular diseases in later life. Mean platelet volume (MPV), neutrophil/lymphocyte ratio (NLR), and platelet/ lymphocyte ratio (PLR) are parameters used to show inflammation. This study planned to evaluate systemic inflammation in children with PA using MPV, NLR, and PLR. Materials and Methods: The study included 40 female patients diagnosed with PA and 40 healthy female individuals as a control group. The patient and control groups' MPV, NLR, and PLR values were compared. Results: The mean age of the PA group was 7.18 +/- 0.66 years, and the mean age of the control group was 7.09 +/- 1.08 years. The mean MPV and platelet distribution width (PDW) values in the PA group were significantly higher than those in the control group (10.25 +/- 0.87 vs 9.52 +/- 0.79, p<0.001 and 15.43 +/- 1.31 vs 14.35 +/- 1.84, p=0.04, respectively). However, in the PA group, NLR and PLR were not significantly different from the values in the control group (p>0.05). The results of multivariate logistic regression analysis revealed that the MPV [odds ratio (OR); 95% confidence interval (CI): 0.331 (0.174-0.630); p=0.001], and PDW [OR; 95%: CI: 0.612 (0.425-0.884); p=0.008] were associated with PA in the patient group. Conclusion: Our results demonstrated that PA patients had significantly higher MPV levels and PDW than the healthy controls. Hence, recognition of early markers in adolescence might reveal primary pathogenetic alterations predictive of the later development of PCOS and/or metabolic syndrome.