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Öğe Diagnostic Approach in Cystinuria: A Case Report(Galenos Publ House, 2021) Bulbul, Selda; Gulbahce, Aliye; Kocagozoglu, Sevim GoncaCystinuria is an, inherited metabolic disorder progressing with recurrent kidney stones due to impaired reabsorption of dibasic amino acids and arises from mutations in the SLC3A1 and SLC7A9 on chromosome 2. Cystine crystals were detected in the urinalysis of a 17 -year -old male patient who was investigated for recurrent kidney stones. Because of demonstration of cystine excretion in the urinary amino acid analysis and having positive family history, we suspected Cystinuria Type B and initiated supportive therapy. However, based on the results of molecular analyses his diagnosis was changed as Cystinuria Type A. In conclusion, our final diagnosis was changed according to the molecular analyses but our treatment approach did not change. Therefore we would like to emphasize that, prominent physical examination findings and supportive laboratory test results will be sufficient for the diagnosis of cystinuria.Öğe Difficulties in Diagnosing Sexual Abuse in Children with Condyloma Acuminata in Turkey(Routledge Journals, Taylor & Francis Ltd, 2010) Bulbul, Selda; Demirceken, Fulya; Cakir, Baris; Cakir, Elif Pinar; Unlu, Erdal; Soyer, TutkuHuman papillomavirus is responsible for anogenital warts and could be regarded as an indicator of possible sexual abuse in children. A genital wart was detected during an investigation of anti-hepatitis C virus positivity in a four-year-old male patient. No pathological findings of another sexually transmitted disease were found except complete cleft palate and circumferential lesions in the perianal region. No family member was anti-hepatitis C virus positive, but the patient's uncle and his wife had genital condylomata. Although detailed physical examination uncovered no other findings indicative of sexual abuse, suspicion of abuse could not be eliminated. Therefore, we wanted to draw the attention of health professionals to the association of anogenital warts and sexual abuse.Öğe Domestic Lifestyle and Nutritional Status of Children During Covid-19 Pandemics(Galenos Publ House, 2021) Bulbul, Selda; Gulbahce, Aliye; Goksen, Nil Koc; Ata, Ali Emrecan; Kocagozoglu, Sevim GoncaObjective: After Covid-19 pandemic was declared, a number of restrictions have been imposed all over the world. We aimed to detect changes in eating habits of children and adults during Covid-19 pandemic when lifestyle changes were inevitable due to these restrictions. Methods: This is a descriptive cross-sectional study. The data collection process was completed by online questionnaire forms sent via mail system. There were questions about demographic characteristics of the participants and their children, lifestyle changes during the pandemic period and awareness of the pandemic. Participants with more than one child were asked to use the information of their youngest children. In statistical analyzes we used Statistical Package for Social Science (SPSS) 20.0 for Windows. Pearson Chi-square test was used for comparisons of categorical variables. The significance level was accepted as p <= 0.05 in all statistical processes. Results: A total of 327 people between 19-65 years of age participated in this study, and 174 of them had children with a mean age of 6.8 years, including 96 (55.7%) boys and 78 (44.3%) girls. Among all children, physical activity decreased in 101 (58%), screen time increased in 87 (50%) and 40 (23%) of them consumed their meals in front of the screen. The snacking habits of 130 (74.8%) children increased, 34 (19.5%) started consuming too much junk food and 12 of them (6.9%) gained weight. We observed that boys consumed more food than girls during their stay at home when compared to usual prerestriction days as they felt anxious and troubled (p=0.02). Conclusion: Pandemics do not affect our lives not only with disease burden but also, have effects on daily lives of families and children. During this period, besides precautions against infection, special interest should be given to feeding, sleeping habits and physical activities that would boost immune system and measures should be taken to prevent harmful habits.Öğe Exposure to domestic violence and its effects on adolescents: A survey among Turkish students(Wiley, 2019) Oguzturk, Omer; Demir, Nefise; Bulbul, Selda; Turkel, Yakup; Unlu, ErdalProblemExposure to domestic violence is an important social problem. What remains unknown are the effects of domestic violence on Turkish adolescents. MethodsThis study was performed in Krkkale, Turkey, to determine the state of verbal and/or physical domestic violence and its effects on adolescent behavior. A total of 1,807 students (44.4% female and 55.6% male) with a mean age of 15.11.6 years at two high schools and five elementary schools were enrolled in the study and completed questionnaires that surveyed their exposure to domestic violence and its possible relationship to their disruptive behaviors. FindingsTwenty-three percent of the students were exposed to violence. Among those, 75% had been exposed to violence within the family, 53% by their friends and 17% by their teachers. Of those exposed to domestic violence, 70% were exposed only verbally and 24% only physically. The economic level of the family, gender, marital status of the parents, and education level of the father were significant factors on violence exposure within the family. The results showed that the rates of being involved in a fight, getting injured at a fight, using a gun, bringing knives (mostly pocket knives) to school and using it were higher in children exposed to domestic violence than with the children who were not. ConclusionsTo address the impact of domestic violence on teens and possibly decrease the adolescent's violent behavior and its consequences, policies aiming to reduce violence in the social environments of adolescents are needed.Öğe First manifestation of citrullinemia type I as Sandifer syndrome(Turkish J Pediatrics, 2017) Kilic, Mustafa; Altinel-Acoglu, Esma; Zorlu, Pelin; Yuksel, Deniz; Bulbul, Selda; Haeberle, JohannesWe report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis. Despite the fact that many patients are already known in the literature, this is the first report of a Sandifer syndrome-like presentation of citrullinemia type I. This paper suggests that suspicion of Sandifer syndrome should also lead to inclusion of urea cycle disorders in the list of differential diagnoses.Öğe Identification of three novel mutations in fourteen patients with citrullinemia type 1(Pergamon-Elsevier Science Ltd, 2017) Kose, Engin; Unal, Ozlem; Bulbul, Selda; Gunduz, Mehmet; Haeberle, Johannes; Arslan, NurObjectives: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASST) gene, which encodes for the argininosuccinate synthetase enzyme. Here, we report genetic and clinical characterizations of 14 patients with citrullinemia type 1. Design & methods: The study group consisted of 14 patients (4 females, 10 males) diagnosed with citrullinemia type 1 from three centers in Turkey. Age of onset, clinical presentation, initial citrulline and ammonia levels, family history and molecular genetic analysis were retrospectively evaluated. Results: The mean age of the cohort and the mean age at the time of diagnosis were 483 +/- 36.5 months (min: 12 days, max: 10 years) and 11.6 +/- 26.2 months (min: 3 days, max: 8 years), respectively. In four patients, a homozygous p.Gly390Arg pathogenic variant was detected. All patients homozygous for p.Gly390Arg were diagnosed during the newborn period with the clinical presentation of classical citrullinemia. In each two patients, homozygous p.Arg86His, c.773 + 49C>T and p.Gly362Val pathogenic variants were detected. Clinical presentation was compatible with the mild form of the disease in patients homozygous for c.773 + 49C>T and for Gly362Val. Novel compound heterozygous genotypes (p.A1a164Pro/p.Gly390Arg; p.Leu290Pro/p.Gly390Arg; p.Thr389Pro/p.Gly390Arg) were identified in five patients. Of these, three siblings with CTLN1 were diagnosed with the compound heterozygous genotype p.A1a164Pro/p.Gly390Arg at the age of 4 days, 5 days and 2 years, respectively. The other two patients with novel compound heterozygous genotypes (p.Leu290Pro/p.Gly390Arg; p.Thr389Pro/p.Gly390Arg) were identified in the first month of life as neonatal onset form and were born to non-consanguineous parents. Conclusion: In our study, consistent with the literature, a correlation was found between homozygous p.Gly390Arg mutation and the classic neonatal onset form. Mild citrullinemia was detected in patients with c.773 + 49C>T or p.Gly362Val pathogenic variants. This study adds to our understanding of the molecular genetic background of patients with CTLN1, and allows to infer on the correlation between the genotype and phenotype of the disease. (C) 2017 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.Öğe Intrascrotal Extratesticular Neurofibroma as a Possible Cause of Failed Descent in Ipsilateral Testis(All India Inst Medical Sciences, 2012) Soyer, Tutku; Vargel, Ibrahim; Ayva, Sebnem; Cavusoglu, Tarik; Cesur, Ozkan; Bulbul, Selda; Cakmak, MuratIntrascrotal extratesticular neurofibromas (IEN) often originate from genitofemoral nerve (GFN) and present as a paratesticular mass. Synchronous presence of IEN and undescended testis has not been reported previously. A 12-year-old boy with neurocutaneous syndrome and congenital giant melanocytic nevi along with IEN and ipsilateral undescended testis is presented, to discuss the underlying pathophysiology of failed testicular descent in the presence of IEN.Öğe Novel approach for Newborn Errors in Metabolism Screening (NEMS) by NMR: Clinical NEMS-by-NMR Study in Turkey(Pergamon-Elsevier Science Ltd, 2014) Bulbul, Selda…
