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Item Whole-Exome Sequencing For Genetic Diagnosis Of Idiopathic Liver Injury In Children(Başkent Üniversitesi Fen Edebiyat Fakültesi, 2024-06-17) Lulecioglu, Aysima Atilgan; Yazici, Yilmaz Yucehan; Baran, Alperen; Warasnhe, Khaled; Beyaz, Sengul; Aytekin, Caner; Ozcay, Figen; Aydemir, Yusuf; Baris, Zeren; Belkaya, SerkanGenome-wide approaches, such as whole-exome sequencing (WES), are widely used to decipher the genetic mechanisms underlying inter-individual variability in disease susceptibility. We aimed to dissect inborn monogenic determinants of idiopathic liver injury in otherwise healthy children. We thus performed WES for 20 patients presented with paediatric-onset recurrent elevated transaminases (rELT) or acute liver failure (ALF) of unknown aetiology. A stringent variant screening was undertaken on a manually-curated panel of 380 genes predisposing to inherited human diseases with hepatobiliary involvement in the OMIM database. We identified rare nonsynonymous variants in nine genes in six patients (five rELT and one ALF). We next performed a case-level evaluation to assess the causal concordance between the gene mutated and clinical symptoms of the affected patient. A genetic diagnosis was confirmed in four rELT patients (40%), among whom two carried novel mutations in ACOX2 or PYGL, and two had previously-reported morbid variants in ABCB4 or PHKA2. We also detected rare variants with uncertain clinical significance in CDAN1, JAG1, PCK2, SLC27A5 or VPS33B in rELT or ALF patients. In conclusion, implementation of WES improves diagnostic yield and enables precision management in paediatric cases of liver injury with unknown aetiology, in particular recurrent hypertransaminasemia.Item Development And Psychometric Analysis Of Care Needs Scale For Mothers Of Children With Congenital Heart Disease(Başkent Üniversitesi Sağlık Bilimleri Fakültesi, 2024-07-02) Ay, Ayse; Semerci, Remziye; Savas, Eyan Hanzade; Saridag, Kuebra Nur KabakciPurpose: This cross-sectional study aimed to create and evaluate a care needs scale for mothers of children with congenital heart disease (CHD) to determine its psychometric properties. Design and methods: This methodological research was conducted with 155 mothers whose children were diagnosed with CHD and were treated at a university hospital. The study's methodology included scale development, specialist opinions, and a pilot test. Data analysis involved descriptive statistics, exploratory and con firmatory factor analyses, and reliability assessments. Results: The 11 -item scale was created using component analysis, expert comments, and pilot testing. It was divided into two categories: Information Needs Regarding Disease and Treatment and Needs Regarding Care. The Exploratory Factor Analysis revealed a 2 -factor structure, explaining 41.5% of the variance. Reliability analysis showed reliable dimensions, and Tukey's scalability test indicated the scale requires separate dimension evaluation. The model fi t indices were obtained as CMIN/DF (72.751/41) =1.774, GFI = 0.925, IFI = 0.923, TLI = 0.893, CFI = 0.920, RMSEA = 0.071, SRMR = 0.063. The Cronbach's alpha coef ficient for subdimension 1 was 0.758, and for subdimension 2 was 0.678, indicating reliable dimensions. Conclusion: The developed scale provides a valuable tool for assessing the care needs of mothers of children with CHD, contributing to enhancing maternal support programs in pediatric cardiology clinics. Practice implications: Assessment of the care needs of mothers who have children with CHD is promising for the development of educational programs on this subject and to ensure the competence of mothers for care. (c) 2024 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.Item Subcortical Auditory Processing and Speech Perception in Noise Among Individuals With and Without Extended High-Frequency Hearing Loss(JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH, 2024-05-16) Colak, Hasan; Aydemir, Berfin Eylul; Sakarya, Merve Deniz; Cakmak, Eda; Alniacik, Asuman; Turkyilmaz, Meral DidemPurpose: The significance of extended high -frequency (EHF) hearing (> 8 kHz) is not well understood so far. In this study, we aimed to understand the relationship between EHF hearing loss (EHFHL) and speech perception in noise (SPIN) and the associated physiological signatures using the speech-evoked frequency-following response (sFFR). Method: Sixteen young adults with EHFHL and 16 age- and sex-matched individuals with normal hearing participated in the study. SPIN performance in right speech-right noise, left speech-left noise, and binaural listening conditions was evaluated using the Turkish Matrix Test. Additionally, subcortical auditory processing was assessed by recording sFFRs elicited by 40 -ms /da/ stimuli. Results: Individuals with EHFHL demonstrated poorer SPIN performances in all listening conditions (p < .01). Longer latencies were observed in the V (onset) and O (offset) peaks in these individuals (p <= .01). However, only the V/A peak amplitude was found to be significantly reduced in individuals with EHFHL (p < .01). Conclusions: Our findings highlight the importance of EHF hearing and suggest that EHF hearing should be considered among the key elements in SPIN. Individuals with EHFHL show a tendency toward weaker subcortical auditory processing, which likely contributes to their poorer SPIN performance. Thus, routine assessment of EHF hearing should be implemented in clinical settings, alongside the evaluation of standard audiometric frequencies (0.25-8 kHz).Item Determinants of Unmet Need For Family Planning: Evidence From The 2018 Turkey Demographic and Health Survey(JOURNAL OF BIOSOCIAL SCIENCE, 2024) Okem, Zeynep Guldem; Pekkurnaz, DidemUnmet need for family planning is a valuable concept to indicate the discrepancy between women's fertility preferences and contraceptive use. Unmet need may lead to unintended pregnancies and unsafe abortions. These may result in health deterioration and reduced employment opportunities for women. The 2018 Turkey Demographic and Health Survey report indicated that the estimated unmet need for family planning doubled from 2013 to 2018, returning to the high levels of the late 1990s. Considering this unfavourable change, this study aims to investigate the determinants of unmet need for family planning among married women of reproductive age in Turkey by using the 2018 Turkey Demographic and Health Survey data. Logit model estimations revealed that women who were at older ages, more educated, wealthier, and had more than one child were less likely to have unmet need for family planning. Employment statuses of women and their spouses and place of residence were significantly associated with unmet need. Results emphasised that training and counselling to enhance the use of family planning methods should effectively target young, less educated, and poor women.Item Literature Review and 2 Cases of Isolated Chylothorax After Pediatric Living-Donor Liver Transplant(2023) Tirnova, Ismail; Alim, Altan; Vehbi, Sezan; Demir, Baris; Akbulut, Akin; Karatas, Cihan; Kanmaz, Turan; 0000-0003-4488-1607; 37503801; ISB-9235-2023Objectives: Chylothorax without chylous ascites after liver transplant is rare. We present 2 cases of isolated chylothorax after liver transplant and a literature review. Materials and Methods: We compiled a literature review of chylothorax cases after abdominal surgery and analyzed the cases related to liver transplant. The demographic information, follow-up results, and treatment details of our 2 cases of chylothorax after living-donor pediatric liver transplant were discussed. Results: An 8-month-old child and a 15-month-old child with cholestatic liver disease and urea cycle defect, respectively, underwent living-donor left lateral segment liver transplant. Patients who presented with chylothorax after discharge were treated conservatively. Conclusions: Isolated chylothorax is rare complication after abdominal surgery, which is mostly possible to treat with conservative methods. Interventional procedures and a surgical approach should only be performed in resistant cases when conservative treatment has failed.Item Determining the Factors Affecting Chemotherapy-Induced Nausea and in Children with Cancer(2023) Ay, Ayse; Boztepe, Handan; Ozbay, Sevil Cinar; Yilmaz, Pinar; Karadavut, Burcu; Burhanogullari, Dilek; Akyuz, Canan; 37845092Purpose: We evaluated the factors affecting chemotherapy-induced nausea and vomiting (CINV) in children with cancer.Design and methods: This cross-sectional study was conducted with 62 children aged 9 to 18 years old with a solid tumor who received chemotherapy for the first time, and their parents. Data were collected using a data collection form, the State-Trait Anxiety Inventory for Children, the Beck Anxiety Inventory, the Spielberger StateTrait Anxiety Inventory, and the Baxter Retching Faces Scale. Data were analyzed using Spearman's correlation and logistic regression analyses.Results: Risk factors related to the child, treatment, and parent were examined. Child-related factors were determined as diagnosis (odds ratio [OR] = 5.5), time since diagnosis (OR = 1.9, OR = 4.7), pretreatment anxiety of the child (r = 0.439, r = 0.422), and past experience of nausea and vomiting before treatment (OR = 1.2). Treatment-related factors involved anti-emetic prophylaxis (OR = 4.9, OR = 9.2). Parent-related factors included pretreatment anxiety of the parent (r = 0.271, r = 0.287), accommodation (OR = 5.5), not eating (OR = 1.2, OR = 1.3), and bad smell (OR = 1.2), which were described amongst parents' as factors that trigger CINV.Conclusions: The occurrence of CINV is significantly affected by child-, treatment-, and parent-related risk factors. Practice implications: Pediatric nurses should create an environment for children and their parents to reduce their anxiety and provide basic knowledge and skills about the management of CINV.Item The Middle Ear Functions and Vestibular-Evoked Potentials in Springboard-Platform Diving Children(2023) Borisova, Natalia; Ozer, Fulya; Kuntman, Berna Deniz; Erbek, Seyra H.; 0000-0002-8453-6069; 0000-0003-0038-8167; AAJ-2445-2021; JNE-6747-2023Objective: To examine the middle ear and Eustachian tube functions of children who perform springboard and platform diving sports professionally and to evaluate the vestibulospinal and vestibuloocular reflexes of these athletes with evoked myogenic potentials.Methods: Two groups consist of athletes and a control group. Pure tone audiometry and speech audiometry, Eustachian tube function test and resonance frequency in multifrequency tympanometry, and ocular/cervical vestibular-evoked myogenic potentials were performed in all participants.Results: Forty-five ears in 25 athletes were evaluated as non-patent Eustachian tube. In athlete girls, resonance frequency mean value was measured lower than the control group in both ears. Cervical vestibular-evoked myogenic potentials amplitude mean values were statistically lower in athlete girls in the left ear (P = .031), and ocular vestibular-evoked myogenic potentials amplitude mean values were statistically higher in athlete boys in the left ear (P = .024). Conclusions: Repeated diving from very high meters platform did not cause significant difference on resonance frequency of the middle ear, but cause frequently common Eustachian tube dysfunction. Acrobatic movements on the air before the diving caused changes in ocular/cervical vestibular-evoked myogenic potentials amplitude values of athletes. Eustachian tube function should be followed at different times of the year to see any effect on the performance of this sport. The importance of the vestibular system and the medial vestibulospinal tract in spring-board and platform diving athletes was emphasized first in this study. To monitor health of vestibular system and middle ear with different and more specific test materials may be important for their longer professional careers. However, this issue should be proven with future studies.Item An Infrequent Case of Sudden Flushing: Infantile Cutaneous Mastocytosis(2023) Gultekingil, A.; Olcay, L.; Togral, A. Karatas; Ayva, E. S.; 0000-0001-7955-5735; AAR-9945-2020Introduction: Sudden flushing is a common symptom in infants but it can be a manifestation of lifethreatening disease, therefore differential diagnosis is crucial for an infant with flushing. Case Description: Here, we describe a two-month-old boy who presented to the Paediatric Emergency Department with four sudden attacks of flushing with accompanying fatigue, especially after feedings. Upon physical examination, a 5x7 cm brown lesion on his left hypochondra was noted. His laboratory tests were unremarkable. Pathological examination of a biopsy of the lesion revealed diffuse mast cell infiltration. The patient was diagnosed with cutaneous mastocytosis. Conclusion: This case underscores the importance of the detailed examination of children with sudden attacks of flushing to make a correct diagnosis and to prevent future life-threatening complications of infrequent clinical entities.Item Results of Pediatric Liver Transplant: A Single-Center Experience(2015) Moray, Gokhan; Tezcaner, Tugan; Akdur, Aydincan; Ozcay, Figen; Sezgin, Atilla; Kirnap, Mahir; Yildirim, Sedat; Arslan, Gulnaz; Haberal, Mehmet; 0000-0002-3641-8674; 0000-0002-8726-3369; 0000-0002-3462-7632; 0000-0002-5735-4315; 0000-0002-5214-516X; 0000-0003-2498-7287; 25894129; AAH-9198-2019; AAD-9865-2021; AAA-3068-2021; AAJ-8097-2021; AAF-4610-2019; ABG-5684-2020; AAE-1041-2021Objectives: Liver transplant is an established curative therapy for children with chronic end-stage liver disease or acute liver failure. In this study, we aimed to evaluate pediatric liver transplant in terms of outcomes, complications, and long-term follow-up results. Materials and Methods: Pediatric patients who had liver transplant in our institution were included. We retrospectively evaluated demographic features including body weight, Child-Pugh score, etiology of liver disease, graft source, perioperative outcomes, perioperative complications, postoperative complications, and long-term results. Outcomes of treatment of complications and revision transplant were evaluated. Results: Between September 2001 and December 2013, there were 188 pediatric liver transplants performed in our institution. Most grafts (90.9%) were obtained from living-related donors. There were 13 patients (6.9%) who had an intervention because of a hemorrhage postoperatively. Biliary leakage was observed in 33 patients (17.5%) and biliary stricture during follow-up was observed in 32 patients (17%). Thrombosis rates in the hepatic artery and portal vein were 12.3% and 0.5%. Revision transplant was performed in 11 patients (5.8%); reason for revision transplant was rejection in 50% patients. The remaining children were alive with good graft functioning after treatment of complications and revision transplant. The overall 5- and 10-year survival rates were 82.3% and 78.9%. Conclusions: The overall outcomes of pediatric liver transplant at our center are very promising. With improved care of younger children and the combined efforts of the parents and medical team, the number of the children receiving transplants will increase in the future.Item HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction(2015) Bulum, Burcu; Ozcakar, Z. Birsin; Duman, Duygu; Cengiz, Filiz Basak; Kavaz, Asli; Burgu, Berk; Baskin, Esra; Cakar, Nilgun; Soygur, Tarkan; Ekim, Mesiha; Tekin, Mustafa; Yalcinkaya, Fatos; 0000-0003-4361-8508; 25924634; B-5785-2018Background: Urofacial syndrome (UFS) is characterised by congenital bladder dysfunction accompanied by a characteristic abnormal grimace upon smiling and crying. In recent years, biallelic mutations of HPSE2 and LRIG2 have been reported in UFS patients. Non-neurogenic neurogenic bladder (NNNB) has a bladder identical to UFS without typical facial features. The aim of this study was to analyse HPSE2 mutations in patients with UFS and NNNB or severe lower urinary tract dysfunction (LUTD) without abnormal facial expression. Methods: Patients with UFS, NNNB and severe LUTD were enrolled in the study. We examined a total of 35 patients from 33 families. There were seven UFS patients from five different families, 21 patients with NNNB and seven with LUTD. HPSE2 gene mutation analysis was performed using the polymerase chain reaction protocol followed by Sanger sequencing in these patients. Results: A twin pair with UFS was found to be homozygous for c.457C>T (p.Arg153*) mutation. No other pathogenetic variant was detected. Conclusion: HPSE2 mutations were found in one UFS family but not detected in patients with NNNB and severe LUTD. Considering the increasingly recognised cases of NNNB that were diagnosed in early childhood period, genetic factors appear to be responsible. Thus, further genetic studies are needed to discover novel associated gene variants in these bladder anomalies. (C) 2015 S. Karger AG, Basel