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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 Management of hypoglycemia in newborn: Turkish Neonatal and Pediatric Endocrinology and Diabetes Societies consensus report(Turkish Pediatric Association, 2019) Aliefendioğlu, Didem; Çoban, Asuman; Hatipoğlu, Nihal; Ecevit, Ayşe; Arısoy, Ayşe Engin; Baş, Firdevs; Bideci, Aysun; Özek, Eren; N/A; Yeşiltepe Mutlu, Rahime Gül; Faculty Member; School of Medicine; 153511Hypoglycemia is one of the most important and most common metabolic problems of the newborn because it poses a risk of neurological injury, if it is prolonged and recurs. Therefore, newborns who carry a risk of hypoglycemia should be fed immediately after delivery and the blood glucose level should be measured with intervals of 2-3 hours from the 30th minute alter feeding. The threshold value for hypoglycemia is 40 mg/dL for the first 24 hours in symptomatic babies. In asymptomatic babies, this value is considered 25 mg/dL for 0-4 hours, 35 mg/dl for 4-24 hours, 50 mg/dL alter 24 hours and 60 mg/dL after 48 hours. Screening should be performed with bed-side test sticks. When values near the limit value are obtained, confirmation with laboratory method should be done and treatment should be initiated, if necessary. The level targeted with treatment is considered 50 mg/dL in the postnatal first 48 hours before feeding, 60 mg/dL after 48 hours in babies with high risk and above 70 mg/dL in babies with permanent hypoglycemia. In cases in which the blood glucose level is below the threshold value and can not be increased by feeding, a glucose infusion of 6-8 mg/kg/min should be initiated. If symptoms accompany, a mini bolus of 10% dextrose (2 ml/kg/min) should accompany. Incements (2 mg/kg/min) should be performed, if the target level can not be achieved and decrements (2 ml/kg/min) should be performed, if nutrition and stabilization is provided. The infusion should be discontinued, if the infusion rate decreases to 3-5 mg/kg/min. If necessary, blood samples should be obtained during hypoglycemia in terms of differential diagnosis and the investigation should be performed following a 6-hour fasting period in babies fed enterally and at any time when the plasma glucose is <50 mg/dL in babies receiving parenteral infusion. The hypoglycemic babies in the risk group whose infusions have been terminated can be discharged, if the plasma glucose level is found to be at the target level for two times before feeding and babies with permanent, severe or resistant hypoglycemia can be discharged, if the plasma glucose level is >60 mg/dL following a 6-hour fast. / Hipoglisemi, uzun sürmesi ve tekrarlaması durumunda nörolojik zedelenme riski nedeniyle, yenidoğanın en önemli ve en sık metabolik sorunlarından birisidir. Bu nedenle, hipoglisemi riski taşıyan yenidoğanlar, doğum sonrası hemen beslenmeli ve beslenme sonrası 30. dakikadan itibaren 2-3 saat aralıklarla kan glukozuna bakılmalıdır. Hipoglisemi eşik değerleri, ilk 24 saat için belirtisi olanlarda 40 mg/dL, belirtisiz olanlarda 0 - 4 saatte 25 mg/dL, 4-24 saat aralığında 35 mg/dL, 24 saatten sonra 50 mg/ dL, 48 saatten sonra ise 60 mg/dL olarak kabul edilebilir. Tarama hastabaşı test çubukları ile yapılmalı, sınıra yakın değerlerde, laboratuvar yöntemi ile doğrulama yapılırken, gerekliyse tedavi başlanmalıdır. Tedavi ile ulaşılması hedeflenen düzeyler, beslenme öncesi postnatal ilk 48 saatte 50 mg/dL, 48 saatten sonra riskli olanlarda 60 mg/dL, kalıcı hipoglisemili olgularda ise 70 mg/dL’nin üstü olarak kabul edilebilir. Kan glukozu eşik değerin altında olan ve beslenme ile yükseltilemeyen durumlarda, 6-8 mg/kg/dk glukoz infüzyonu başlanmalı, belirti eşlik etmesi durumunda ise 2 ml/kg %10 dekstroz minibolus eşlik etmelidir. Hedef düzeye ulaşılamaması durumunda artışlar ve beslenme ile stabilizasyonun sağlanması durumunda azaltmalar 2 mg/kg/dk olarak yapılmalı, infüzyon hızının 3-5 mg/kg/dk’ye inmesi durumunda ise infüzyon sonlandırılmalıdır. Gerekliyse ayırıcı tanı açısından kan örnekleri hipoglisemi sırasında alınmalı ve araştırma, enteral beslenen bebeklerde 6 saatlik beslenmeme periyodu sonrasında, parenteral infüzyon alanlarda ise plazma glukozunun 60 mg/dL olması durumunda taburcu edilebilirler.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 A systematic review of recent and ongoing clinical trials in patients with the neurofibromatoses(Elsevier, 2022) Bedolla, Edwin Nieblas; Armstrong, Amy E.; Hirbe, Angela C.; Acar, Simge; Undergraduate Student; School of MedicineIntroduction: the neurofibromatoses comprise three different genetic conditions causing considerable morbidity and mortality: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). This review summarizes recent and ongoing clinical trials involving patients with neurofibromatoses to better understand the current state of clinical trial research centered around these conditions and inform areas of need. Methods: a search was conducted using the Cochrane Central Register of Controlled Trials and clinicaltrials.gov databases. Inclusion and exclusion criteria were designed to identify clinical trials focused on patients with NF1, NF2, or SWN completed in or after 2010 and in process as of December 31, 2021. Information was collected using standardized guidelines. Results: a total of 134 clinical trials were included, with 75 (56%) completed and 59 (44%) in process. For completed trials, 74% (n = 56) involved patients with NF1, and of those based on specific tumors (n = 26, 46%), the majority focused on plexiform neurofibromas (PNs) (n = 12, 46%). For ongoing trials, 79% (n = 47) involve patients with NF1, and of those based on specific tumors (n = 29, 61%), the majority are focused on PNs (n = 13, 45%). Conclusion: both recent and ongoing clinical trials have primarily focused on patients with NF1 and the treatment of PNs. This research has led to the first FDA-approved drug for NF1-PN and has changed management of these tumors, allowing for systemic therapy rather than reliance on only a surgical modality. Trials evaluating comorbid psychiatric conditions and quality of life among patients with any of the neurofibromatoses appear less common. These areas may warrant focus in future studies to improve clinical management.Publication Open Access Effects of preeclampsia on the amplitude integrated electroencephalography activity in preterm infants(De Gruyter, 2016) Topçuoğlu, Sevilay; Kolsuz, Leyla Daban; Ovalı, Fahri; Karatekin, Güner; N/A; Gürsoy, Tuğba; Faculty Member; School of Medicine; 214691Objective: Preeclampsia leads to chronic intrauterine hypoxia by interfering with placental blood supply. The aim of this study was to investigate whether preeclampsia exposure has an influence on the central nervous system of infants, as monitored by amplitude integrated electro-encephalography (aEEG).Publication Open Access Clinical presentation in a series of eight children with abdominal tuberculosis: experience of a single-center in Turkey(Kowsar Publishing Corporation, 2017) Usta, Merve; Urgancı, Nafiye; Dalgıç, Nazan; Kurtaraner, Tuğce; Karadağ, Çetin Ali; N/A; Kızılkan, Nuray Uslu; Faculty Member; School of MedicineBackground: Abdominal tuberculosis, the sixth commonest extrapulmanory tuberculosis, is easily misdiagnosed due to nonspecific gastrointestinal symptoms. The diagnosis is highly dependent on clinician's suspicion of the disease; therefore to increase awareness we retrospectively reviewed clinical features of eight children in a four year-period. Methods: The medical records of children with abdominal TB were retrospectively reviewed. The diagnosis of abdominal TB was defined as Mycobacterium tuberculosis infection of gastrointestinal tract along with peritoneal or solid organ involvement. Results: There were six girls and two boys with a mean age of 13.6 +/- 2.8 years (range, 7 - 16 years). Abdominal pain and weight loss were common complaints in all patients (100%) at presentation; fever was present in four (50%) patients and abdominal distension in two (25%) patients. Mean duration of symptoms before diagnosis was 2.5 +/- 1 months. Laparotomy performed in six patients, and the peritoneum was the most common infection site (in 5 patients). Chest X-rays of 7 patients indicated lung involvement. The most common abdominal computed tomography and ultrasonography finding was ascites. Bowel wall thickening was recorded in 2 patients and ileal thickening in 1 patient. Inguinal lymphadenopathy and multiple mesenteric lymphadenitis were present as single cases. Conclusions: The abdominal tuberculosis should be suspected in children with ongoing abdominal pain, fever, and abdominal distension, laparoscopy or laparotomy could be useful in the differential diagnosis and utilizing imaging techniques, invasive methods with clinical suspicion may prevent delay of the diagnosis.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 Effects of antenatal magnesium exposure on intestinal blood flow and outcome in Preterm Neonates(Thieme Medical Publishers, 2015) İmamoğlu, Ebru Yalın; Ovalı, Fahri; Karatekin, Güner; N/A; Gürsoy, Tuğba; Faculty Member; School of Medicine; 214691Objective This study aims to investigate the effects of antenatal magnesium sulfate on intestinal blood flow in preterm neonates. Study Design In this prospective case-match study, 25 preterm neonates exposed to magnesium sulfate antenatally were included (study group). Overall, 25 gestational age-matched neonates who had no exposure to magnesium constituted the control group. Serial daily Doppler flow measurements of superior mesenteric artery (SMA) were performed. The time to reach full feeds, first meconium passage were assessed. Presence of feeding intolerance or necrotizing enterocolitis was recorded. Results Blood flow velocities of SMA were not different between the groups during the first five postnatal days. However, SMA blood flow showed an increasing trend in the control group unlike the study group (control group, p < 0.001; study group, p = 0.29). There was no significant difference between the two groups regarding the time to reach full feeds or first meconium passage and presence of feeding intolerance. No case of necrotizing enterocolitis was seen. Conclusion Antenatal magnesium does not significantly affect intestinal blood flow, but it seems to attenuate the increasing trend of the intestinal blood flow in the early postnatal days. However, this study failed to show any impact of this finding on clinical outcomes.Publication Open Access The survivorship bias in congenital diaphragmatic hernia(Multidisciplinary Digital Publishing Institute (MDPI), 2022) Aydın, Emrah; Haberman, Beth; Lim, Foong-Yen; Peiro, Jose L.; Torlak, Nilhan; Graduate School of Health SciencesCurrent literature for congenital diaphragmatic hernia (CDH) focuses on the comparison of the overall mortality in CDH patients. Only a few studies concentrate on analyzing the unstable patients who could not achieve surgical repair, as well as those who could but did not survive after. Hence, this study aimed to analyze the effects of various parameters on the timing of death. A retrospective analysis was performed by using the data of all CDH patients from 2003 to 2016 at a single tertiary center. Patients who were diagnosed with left-sided CDH and expired were included in the study regardless of the cause. Of the 66 expired patients, 5 were excluded due to right-sided CDH. The study population constituted a total of 61 patients, of which 31 patients expired prior to CDH repair, and 30 patients expired at different times after CDH repair. Multinomial regression analysis identified that the ECMO need (B = 20.257, p = 0.000, OR: 62.756, 95% CI 10.600-371.384) and O/E LHR (B = 20.376, p = 0.000, OR: 70.663, 95% CI 48.716-102.415) values were the independent predictors that influenced mortality in this cohort. Prenatal pulmonary measurements are the major predictors determining the severity of the disease in patients with CDH.Publication Open Access Diffusion MRI features of acute encephalopathy due to stopping steroid medication abruptly in congentila adrenal hyperplasia(Medknow Publications, 2015) Serter, Aslı; Alkan, Alpay; N/A; Demirkol, Demet; Faculty Member; School of MedicineCongenital adrenal hyperplasia (CAH) is characterized by adrenal steroid biosynthesis defect. Steroid replacement therapy should be performed regularly in these patients. Adrenal crisis may be present in acute stress due to increased cortisol requirements or in steroid deficiency due to stopping steroid medication abruptly. In patients with acute adrenal insufficiency, severe hypotension or hypovolemic shock occurs typically. Acute encephalopathy can be seen due to hypoxia, hypervolemia, or hypoglycemia. Diffusion restriction can be seen in cortical-subcortical regions of frontal and parieto-occipital lobes and in splenium of corpus callosum. In CAH patients with neurologic symptoms, Diffusion weighted images (DWI) is very important in the diagnosis and follow-up of acute encephalopathy.