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Permanent URI for this collectionhttps://hdl.handle.net/20.500.14288/6
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Publication Open Access Recommendations for clinical decision-making in children with type 1 diabetes and celiac disease: type 1 diabetes and celiac disease joint working group report(Galenos Yayınevi, 2022) Dalgıç, B.; Gökşen, D.; Aydoğdu, S.; Savaş, Erdeve Ş.; Kuloğu, Z.; Doğan, Y.; Aycan, Z.; Keser, A.; Beşer, Ö.F.; Özbek, M.N.; Bideci, A.; Ertem, D.; Evliyaoğlu, O.; Eliüz Tipici, B.; Gökçe, T.; Muradoğlu, S.; Koca, T.; Tütüncüler, F.; Baş, F.; Darendeliler, F.; Selimoğlu, M.A.; Hatun, Şükrü; Yeşiltepe Mutlu, Rahime Gül; Kızılkan, Nuray Uslu; Taşkın, Orhun Çığ; Faculty Member; Faculty Member; Faculty Member; School of Medicine; Koç University Hospital; 153504; 153511; 221274; 166686It is well-known that in children with type 1 diabetes (T1D), the frequency of Celiac disease (CD) is increased due to mechanisms which are not fully elucidated but include autoimmune injury as well as shared genetic predisposition. Although histopathologic examination is the gold standard for diagnosis, avoiding unnecessary endoscopy is crucial. Therefore, for both clinicians and patients’ families, the diagnosis of CD remains challenging. In light of this, a joint working group, the Type 1 Diabetes and Celiac Disease Joint Working Group, was convened, with the aim of reporting institutional data and reviewing current international guidelines, in order to provide a framework for clinicians. Several controversial issues were discussed: For CD screening in children with T1D, regardless of age, it is recommended to measure tissue transglutaminase-immunoglobulin A (tTG-IgA) and/or endomysial-IgA antibody due to their high sensitivity and specificity. However, the decision-making process based on tTG-IgA titer in children with T1D is still debated, since tTG-IgA titers may fluctuate in children with T1D. Moreover, seronegativity may occur spontaneously. The authors’ own data showed that most of the cases who have biopsy-proven CD had tTG-IgA levels 7-10 times above the upper limit. The decision for endoscopy based solely on tTG-IgA levels should be avoided, except in cases where tTG-IgA levels are seven times and above the upper limit. A closer collaboration should be built between divisions of pediatric endocrinology and gastroenterology in terms of screening, diagnosis and follow-up of children with T1D and suspicious CD.Publication Open Access Mutations in AR or SRD5A2 genes: clinical findings, endocrine pitfalls, and genetic features of children with 46,XY DSD(Galenos Yayınevi, 2022) Akcan, Neşe; Uyguner, Oya; Baş, Firdevs; Toksoy, Güven; Karaman, Birsen; Abalı, Zehra Yavaş; Poyrazoğlu, Şükran; Aghayev, Agharza; Karaman, Volkan; Bundak, Ruveyde; Basaran, Seher; Darendeliler, Feyza; Altunoğlu, Umut; Avcı, Şahin; Faculty Member; Faculty Member; School of Medicine; 126174; N/AObjective: androgen insensivity syndrome (AIS) and 5 alpha-reductase deficiency (5 alpha-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period. The aim was to evaluate the clinical, hormonal and genetic findings of 46,XY DSD patients who were diagnosed as AIS or 5 alpha-RD. Methods: patients diagnosed as AIS or 5 alpha-RD according to clinical and hormonal evaluations were investigated. Sequence variants of steroid 5-alpha-reductase type 2 were analyzed in cases with testosterone/dihydrotestosterone (T/DHT) ratio of >= 20, whereas the androgen receptor (AR) gene was screened when the ratio was <20. Stepwise analysis of other associated genes were screened in cases with no causative variant found in initial analysis. For statistical comparisons, the group was divided into three main groups and subgroups according to their genetic diagnosis and T/DHT ratios. Results: a total of 128 DSD patients from 125 non-related families were enrolled. Birth weight SDS and gestational weeks were significantly higher in 5 alpha-RD group than in AIS and undiagnosed groups. Completely female phenotype was higher in all subgroups of both AIS and 5 alpha-RD patients than in the undiagnosed subgroups. In those patients with stimulated T/DHT <20 in the prepubertal period, stimulated T/DHT ratio was significantly lower in AIS than in the undiagnosed group, and higher in 5 alpha-RD. Phenotype associated variants were detected in 24% (n=18 AIS, n=14 5 alpha-RD) of the patients, revealing four novel AR variants (c.94G>T, p.Glu32*, c.330G>C, p.Leu110=; c.2084C>T, p.Pro695Leu, c.2585_2592delAGCTCCTG, p.(Lys862Argfs*16), of these c.330G>C with silent status remained undefined in terms of its causative effects. Conclusion: T/DHT ratio is an important hormonal criterion, but in some cases, T/DHT ratio may lead to diagnostic confusion. Molecular is for the robust of 46,XY DSD Four novel AR variants were identified in our study.Publication Open Access Being a pediatrician and living in the world of children(Aves, 2022) Hatun, Şükrü; Faculty Member; School of Medicine; 153504Publication Open Access Fucosidosis: clinical and molecular findings of Turkish patients(Turkish National Pediatric Society, 2022) Şanlı, Merve Emecen; Uysal, Serap; Other; School of MedicineBackground: Fucosidosis is a rare, autosomal recessive lysosomal storage disease caused by alpha L-fucosidase enzyme deficiency in all tissues. Here, we identify a patient with a novel homozygous pathogenic variant and atypical clinical findings and summarized the clinical and molecular features of Turkish patients reported in the literature and present. Case: the patient was born to consangineous parents at the 28th week of gestation. He had developmental delay that was attributed to prematurity. At he age of 2.5 years, brain magnetic resonans imaging revealed hyperintensities of symmetrical periventricular, subcortical, centrum semiovale and corona radiata regions on T2 and FLAIR weighted images. He developed seizures and showed developmental regression at he age of 3,5 years. Beside, coarse facial features and hepatomegaly were detected on phsyical examination. Lysosomal enzyme analysis revelaed alfa fucosidase deficiency and molecular genetic analysis identified a novel homozygous pathogenic p. Lys431 fs variant in FUCA1 gene. Conclusions: in Turkish patients no distinguishable clinical and radiologic finding could be established. Molecular analysis was performed in few patients. Increasing of molecular and biochemical facilities might enable to make diagnosis and increase the prevalence of the disease in countries with high rate of consanguineous marriages. Moreover, it will provide genetic counseling, and enlighten the therapeutic effects of hematopoietic stem cell transplantation.Publication Open Access An evaluation of glucagon injection anxiety and its association with the fear of hypoglycemia among the parents of children with type 1 diabetes(Galenos Yayınevi, 2021) Muradoğlu, Serra Küpçüoğlu; Gökçe, Tuğba; Can, Ecem; Yeşiltepe Mutlu, Rahime Gül; Hatun, Şükrü; Faculty Member; School of Medicine; Graduate School of Health Sciences; Koç University Hospital; N/A; N/A; N/A; 153511; 153504Objective: Hypoglycemia is a common acute complication of type 1 diabetes (T1D), which may cause seizure, loss of consciousness, and temporary motor or sensory impairment. Glucagon administration is an effective way of treating severe hypoglycemia, especially in a free-living setting. Nonetheless, families have difficulties in managing severe hypoglycemia due to their anxiety and challenges with current glucagon administration techniques. The aim of the current study was to explore the associations between parental fear of hypoglycemia (FoH) and their general anxiety level, and in particular, their attitudes towards and thoughts on glucagon administration. Methods: Parents of children with T1D completed questionnaires assessing background and clinical information, FoH, generalized anxiety disorder (GAD) and parental anxiety for glucagon administration (PAGA). Results: sixty-eight parents participated. Positive correlations were found between parental GAD-7 score and both FoH and the number of night-time blood glucose measurements and there was a negative correlation with the child's age. Parents mean self-evaluation score of their competence in glucagon administration was 6 (standard deviation +/- 2.9) on a scale of 0 to 10. Unsurprisingly, this score was negatively correlated with the PAGA scores. There was no significant difference between children using continuous glucose monitoring system and self-monitoring of blood glucose in terms of parental FoH, anxiety and misconceptions about glucagon administration. Conclusion: the results showed that parents of children with T1D had anxiety and fear connected with hypoglycemia and glucagon administration. Structured and practical training should be implemented to increase parents' self-confidence including annual refresher training for home glucagon administration.Publication Open Access Could plasma based therapies still be considered in selected cases with atypical hemolytic uremic syndrome?(Turkish National Pediatric Society, 2021) Özlü, Sare Gülfem; Gülhan, Bora; Aydoğ, Özlem; Atayar, Emine; Delibaş, Ali; Parmaksız, Gönül; Özdoğan, Elif Bahat; Çomak, Elif; Acar, Banu; Özçakar, Zeynep Birsin; Topaloğlu, Rezan; Söylemezoğlu, Oğuz; Özaltın, Fatih; Taşdemir, Mehmet; Doctor; School of MedicineBackground: atypical hemolytic uremic syndrome (aHUS) occurs due to defective regulation of the alternative complement pathway (ACP) on vascular endothelial cells. Plasma based therapy (PT) was the mainstay of the treatment for aHUS for many years until the introduction of therapies targeting blockage of the complement system. The aim of this study was to evaluate patients with aHUS who had been treated with plasma based therapies alone. Methods: the outcomes of seven genetically confirmed aHUS patients (2 girls, 5 males) were evaluated by means of clinical presentation, response to plasma therapy, course of the disease during the follow-up period and last status. Results: the median age of the patients at admission was 6.7 years (IQR 0.7-7.8). Three patients received plasma exchange therapy and the other four patients were treated with plasma infusions. One patient was lost to follow-up after one year; the median duration of follow-up for other patients was 3.7 years (IQR 2.7-6.5). During the follow up, two patients from our historical records when complement blocking therapies had not been in clinical use yet in Turkey, underwent kidney transplantation. One transplant patient experienced an acute rejection episode without graft loss. The remaining five patients had a glomerular filtration rate of more than 90 ml/min./1.73 m(2) at the last visit. Conclusion: although we had a relatively small patient population, our findings indicate that PT might still be considered in selected patients particularly in countries where complement blocking therapies are difficult to reach due to their unavailability or costs that are not covered by the health care systems.Publication Open Access Birth weight reference percentiles by gestational age for Turkish twin neonates(Aves, 2021) İmamoğlu, Ebru Yalın; Hayran, Mutlu; Kayıran, Sinan Mahir; Zeybek, Gözde; Özumut, Sibel Sevuk; Karatekin, GÜner; Ovalı, Fahri; Gürsoy, Tuğba; Faculty Member; School of Medicine; 214691Aims: in clinical practice, birth weight reference percentiles for singletons are used to evaluate twin births. The utilization of singleton reference percentiles for twins is not appropriate as they experience different growth trajectories. However, Turkey still lacks such references. Our aim was to create gestational age-specific birth weight references for female and male Turkish twins. Materials and methods: this is a hospital-based, multi-centered, retrospective study. In total, 2544 live-born twins between 2010 and 2019 were included in the study. Gestational age, birth weight, mode of delivery, gender, birth order, chorionicity, maternal age, pregnancy resulting from assisted reproduction techniques, APGAR (Appearance, Pulse, Grimace, Activity, and Respiration) score at 5 minutes, admission to the neonatal intensive care unit (NICU), length of stay in NICU, and death during the NICU stay were recorded. Results: smoothed reference curves for birth weight by gestational age and separate tables for female and male twin neonates for the 3rd, 10th, 50th, 90th, and 97th percentiles from 26 to 39 weeks of gestational age were constructed. Overall neonatal and infant mortality rates during NICU stay in our twin cohort were 12/1000 and 16/1000, respectively. Conclusion: twin-specific birth weight nomograms could be helpful as a reference for clinicians to identify high-risk neonates and fetuses who need specialized care. However, further studies with larger series are urgently needed for validation and use of these nomograms in clinical practice.Publication Open Access Comparison of intraoperative and postoperative analgesic properties of ilioinguinal/iliohypogastric and sacral epidural block in pediatric unilateral inguinal hernia operations(Kare Yayıncılık, 2022) Mahli, A.; Coşarcan, Sami Kaan; Doctor; Koç University HospitalObjectives: Central blocks such as caudal, spinal, and sacral epidural are frequently used in pediatric inguinal surgeries. Furthermore, peripheral blocks have been used and successful results have been obtained in pediatric inguinal surgeries. In this study, we aimed to compare the intraoperative and postoperative analgesic efficacy of the ilioinguinal/iliohypogastric (IL/IH) block under general anesthesia with the sacral epidural block. Methods: This study was carried out in Gazi University Faculty of Medicine, Department of Anesthesiology and Reanimation, after obtaining permission from the Ethics Committee of Gazi University Faculty of Medicine and the Central Ethics Committee of the General Directorate of Pharmaceuticals and Pharmacy of the Turkish Ministry of Health, numbered B.10.0.İEG.011.00.01. Sixty patients in the American Society of Anesthesiologists I-II group between the ages of 1 and 8 years who will undergo elective unilateral inguinal hernia operation under general anesthesia were randomly divided into two groups. Group S (n=30) sacral epidural block and group I (n=30) IL/IH nerve block were planned. Results: Hemodynamic values were found to be statistically significantly lower than control values in both groups. The minimum alveolar concentration values for sevoflurane were statistically significantly lower values in both groups at all surgery periods. In terms of additional analgesic requirement, the group I was found to be statistically significantly lower than the group s at the 8th-12th h. When the first analgesic intake hours were examined, no significant difference was found between the two groups. Conclusion: In our study, group I and group S analgesic efficacy was found to be similar. / Amaç: pediatrik inguinal girişimlerde kaudal, spinal ve sakral epidural gibi santral bloklar sıklıkla kullanılmaktadır. Bu girişimlerde periferik bloklar da kullanılmakta ve başarılı sonuçlar alınmaktadır. Bu çalışmada, genel anestezi altında ilioinguinal/ iliohipogastrik bloğunun intraoperatif ve postoperatif analjezik etkinliğini sakral epidural blok ile karşılaştırmayı amaçladık. Gereç ve yöntem: bu çalışma, Gazi Üniversitesi Tıp Fakültesi Anesteziyoloji ve Reanimasyon Anabilim Dalı’nda, Gazi Üniversitesi Tıp Fakültesi Etik Kurulu’ndan ve Sağlık Bakanlığı İlaç ve Eczacılık Genel Müdürlüğü Merkez Etik Kurulu’ndan B.10.0.İEG.011.00.01 numaralı izin alındıktan sonra gerçekleştirilmiştir. ASA I - II grubunda olup genel anestezi altında elektif tek taraflı inguinal herni ameliyatı olacak, yaşları 1-8 arasında olan 60 hasta randomize olarak iki gruba ayrıldı: Grup S (n=30) sakral epidural blok grubu ve Grup I (n=30) ilioinguinal / iliohipogastrik sinir bloğu grubu. Bulgular: hemodinamik değerler her iki grupta da kontrol değerlerinden istatistiksel olarak anlamlı derecede düşük bulundu. Sevofluran için MAC değerleri, tüm cerrahi periyotlarda her iki grupta da istatistiksel olarak anlamlı derecede düşüktü. Ek analjezik gereksiniminin Grup I’da, 8. ve 12. saatlerde Grup S’ye göre istatistiksel olarak anlamlı derecede düşük olduğu gözlendi. İlk analjezik alım saatleri açısından iki grup arasında anlamlı fark bulunmadı. Sonuç: çalışmamızda Grup I ve Grup S’de analjezik etkinlikleri benzer bulundu.