Çocuk Sağlığı ve Hastalıkları Anabilim Dalı Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/20.500.12514/4204
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Article Citation - WoS: 8Citation - Scopus: 9Early puberty paradox: an investigation of anxiety levels of mothers and children, children's quality of life, and psychiatric diagnoses(SpringerLink, 2023-06-19) Kardaş, Burcu; Kardaş, Ömer; Demiral, Meliha; Özbek, Mehmet NuriEarly puberty signs lead to an increase in anxiety levels of parents and children. The aim of this study was to investigate the quality of life and anxiety levels of girls and their mothers who were admitted to a pediatric endocrinology clinic with concerns about early puberty. Girls and their mothers who were admitted to endocrinology outpatient clinic with concerns about early puberty were compared to healthy control group. Screen for Child Anxiety Related Emotional Disorders (SCARED) parent form, Quality of Life for Children Scale (PedsQL) parent form, and Beck Anxiety Inventory (BAI) were administered to the mothers. Children were evaluated with the Schedule for Afective Disorders and Schizophrenia for School-Age Children (Kiddie-SADS Lifetime Version) (K-SADS-PL). The study sample consisted of 92 girls and 62 of them were administered to clinic with concerns about early puberty. There were 30 girls in early puberty group (group 1), 32 girls were in the normal development group (group 2), and 30 were in the healthy control group (group 3). The anxiety level of group 1 and group 2 was signifcantly higher, and their quality of life was signifcantly lower when compared to group 3 (p<0.001). Mother’s anxiety level was found signifcantly higher in group 2 (p<0.001). It has shown that anxiety level and quality of life of children were associated with anxiety level of mothers and the current Tanner stage (r=0.302, p<0.005). Conclusion: Mothers and children who have concerns about early puberty are negatively afected when early puberty is a possibility. For this reason, educating parents will prevent negative impacts of this situation on children. At the same time, it will decrease health burden.Article Methemoglobinemia and acute ıntravascular hemolysis after naphthalene poisoning in a pediatric patient(SciELO Argentina, 2024-04-01) Orhan, Özhan; Talay, Mehmet NurPoisoning by naphthalene is uncommon in children. It is a type of poisoning brought on by ingesting, inhaling, or coming into touch with naphthalene-containing substances on the skin. Patients typically present with an initial onset of dark brown urine, watery diarrhea, and bile vomit. The signs include fever, tachycardia, hypotension, and low pulse oximetry readings even with oxygen support. Hemolytic anemia, methemoglobinemia, renal failure, and hyperbilirubinemia are all detected in blood tests. Erythrocyte transfusion, ascorbic acid, methylene blue, and N-acetylcysteine (NAC) therapies are provided to inpatients in addition to symptomatic treatment. We present a 23-month-old male patient who developed methemoglobinemia and acute ıntravascular hemolysis, who was followed up in the intensive care unit for five days due to naphthalene intoxication. Although naphthalene poisoning is very rare, it should be known that it has fatal consequences, and more care should be taken in its use and saleArticle Our Treatment Experience in Poisoning With Calcium Channel Blockers: a Series of Twelve Cases(Briefland, 2024-01-15) Talay, Mehmet Nur; Orhan, Ozhan; Ozbek, Mehmet Nuri; Kangin, Murat; Turanli, Ese EdaBackground: Intoxications with cardiovascular system drugs constitute a small percentage of all poisoning cases. Calcium Channel Blockers (CCBs) are the most common drug poisoning in this group. Objectives: We aimed to evaluate the effectiveness of treatments for CCB poisoning and add to the current body of literature by outlining the clinical treatments we employ for bradyarrhythmia, hypotension, and resistant vasodilation resulting from CCB poisoning, as well as sharing our clinical insights in this field. Methods: Twelve patients, ranging in age from 1 month to 18 years, were admitted to the Tertiary Paediatric Intensive Care Unit (PICU) for treatment of medication poisoning related to the CCB group. Patients who ingested several drugs that caused CCB were not allowed to participate in the trial. Results: Twelve patients were followed up in the PICU due to poisoning with CCB group drugs. Of the patients, 7 were male and 5 were female. Five of the patients had taken CCB medication with the purpose of committing suicide, and 7 of them accidentally. All of the patients who received CCB to commit suicide had taken verapamil. Five patients whose hypotension and bradycardia continued were administered inotropes. In addition to PI, calcium gluconate, intravenous lipid, glucagon, insulin, bicarbonate, and methylene blue were given as therapy to our symptomatic patients. Plasmapheresis was applied to a patient who was hospitalized in the PICU due to a sudden loss of consciousness. Conclusions: In the management of patients with CCB poisoning, the use of hyperinsulinemia euglycemia, intravenous lipid emulsion treatment, glucagon treatments, and treatments including methylene blue and extracorporeal life support should be considered in cases of resistant hypotension, bradycardia, and coma in the early period.Article Citation - Scopus: 1MOLECULAR DIAGNOSIS IN PATIENTS WITH MONOGENIC DIABETES MELLITUS, AND DETECTION OF A NOVEL CANDIDATE GENE(Elsevier, 2023-11-01) Gökşen, Damla; Evin, Ferda; Işık, Esra; Özen, Samim; Atık, Tahir; Özkınay, Ferda; Akcan, Neşe; Özkan, Behzat; Büyükinan, Muammer; Özbek, Mehmet Nuri; Darcan, Şükran; Onay, HüseyinAim: We aimed to investigate molecular genetic basis of monogenic diabetes (DM) and novel responsible candidate genes with targeted Next Generation Sequencing (NGS) and Whole Exome Sequencing (WES). Methods: A hundred cases presenting with clinical findings and a family history of monogenic DM were included in the study. Molecular analysis was performed using an NGS panel including 14 genes. Following targeted NGS, WES was planned in cases in whom no variant was detected. Results: Thirty different disease-causing variants in seven different genes were detected in thirty-five (35%) cases with targeted NGS approach. Most common pathogenic variant was found in GCK gene in 25 (25%) cases. Four different variants were detected in 4 (4%) patients in ABCC8 gene. In 45 of 65 cases; WES analyses were done. A heterozygous c.2635C>T(p.Gln879Ter) variant was detected in IFIH1 gene in a patient with incidental hyperglycemia. In the segregation analysis affected mother was shown to be heterozygous for the same variant. Conclusion: Molecular etiology was determined in 35% cases with the NGS targeted panel. Seventeen novel variants in monogenic DM genes have been identified. A candidate gene determined by WES analysis in a case that could not be diagnosed with NGS panel in this study.Article Citation - WoS: 1Citation - Scopus: 1Thirteen-Year Surveillance Results of Acute Flaccid Paralysis Cases in Southeast Turkey and the Effect of Refugee Movements on Surveillance Results(Natl Inst Public Health, 2024-03-31) Turan, Birgul; Ozgun, Mert; Toktas, Izzettin; Korukluoglu, Gulay; Ozgun, Nezir; Kubat, GulnazObjective: Acute flaccid paralysis (AFP) is a major neurological problem. Turkey has accepted over 4 million refugees since 2011 due to the wars in neighbouring countries. In the long term, refugees can have adverse effects on the limited resources of health, sanitation, water supply, foodstuff, and shelter services of host countries, precipitating the transmission and spread of enteroviruses causing AFP. This study examines the 13-year surveillance and incidence of AFP cases in southeast Turkey, and questions possible impact of refugee movements on these parameters, comparing the periods before (2007-2010) and after (2011-2019) 2011, when the refugee movements emerged. Methods: The records of cases reported from southeast part of Turkey with suspected AFP between January 2007 and December 2019 were reviewed retrospectively. Results: Of the patients, 121 (58.5%) were male. Mean age was 80.36 +/- 46.67 months. Eighty-five (41.1%) were aged 60 months or younger. The number of patients under 60 months increased significantly after 2011. Mean incidence was calculated as 0.88 cases/100,000 person years versus 1.58 cases/100,000 person years in the period before and after 2011, respectively. Guillain-Barr & eacute; syndrome (GBS) was the most common cause of AFP in both periods. As of 2011, however, the incidence of acute transverse myelitis increased approximately 4 times and GBS decreased proportionally. Non-polio enteroviruses were the most frequent isolates, detected from 9.1% of stool samples. Conclusion: Although refugee movements appear to may have adverse effects on AFP incidence and surveillance outcomes, larger studies involving the whole country, particularly at places where no refugees settled, are needed to achieve more conclusive evidence.Article Citation - Scopus: 1Investigation of the effect of comorbid psychopathologies on glycemic control in children and adolescents with type 1 diabetes mellitus(Turkish J Clinical Psychiatry, 2022) Kardaş, Burcu; Kardaş, Ömer; Demiral, Meliha; Özbek, Mehmet Nuri; Unal, EdipObjective: The presence of comorbid psychiatric conditions in chronic diseases makes the management of the disease difficult. Our study, we aimed to examine the relationship between psychiatric comorbid conditions and glycemic control in children and adolescents with Type 1 Diabetes. Method: In our study, depending on the number of patients, good and moderate controls were evaluated as a single group, and HbA1c levels of 8.5 and below were included in this group. Children for Depression Inventory (CDI), Screen for Child Anxiety-Related Emotional Disorders (SCARED), Turgay Child and Adolescent Behavioral Disorders Based on DSM-IV Screening and Evaluation Scale were applied. The case and parents were evaluated with K-SADS-PL.Among 778 diabetic patients who were followed up in the pediatric endocrinology clinic, 73 cases between the ages of 8 and 17 who were followed up regularly, who did not have any comorbidities and who accepted to participate in the study were evaluated psychiatrically. Results: Of the 73 cases included in the study, 29 were accepted as the patients with good glycemic control (HbA1c <= 8.5 mg / dl), and 44 as with poor glycemic control (HbA1c>8.5mg / dl). In cases with poor glycemic control, parents' education level and income level were significantly lower, while the rate of attention deficit and hyperactivity disorder, major depressive disorder, social anxiety disorder and psychopathology was significantly higher. Discussion: The findings of this study revealed that there are many factors affecting glycemic control and there is a strong relationship between glycemic control and psychopathologies.Article Citation - WoS: 2Citation - Scopus: 2Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study(Neuropediatrics, 2023-02-14) Özgün, Nezir; Günay , Çağatay; Aykol, Duygu; Özsoy, Özlem; Sönmezler, Ece; Hiz Kurul, Semra; Kara, Bulent; Hanci, Yaren SenaBackground: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. Methods: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. Results: Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively. Conclusion: Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.Article Citation - WoS: 3Citation - Scopus: 3Evaluation and management of neonatal onset hyperinsulinemic hypoglycemia: a single neonatal center experience(Taylor & Francis, 2023-10-20) Bezirganoğlu, Handan; Okur, Nilifer; Feryal Taş, Funda; Çelik, Kıymet; Özbek, Mehmet Nuri; Tas, Funda FeryalObjectives: To evaluate the clinical characteristics and treatment options of neonates requiring prolonged hospitalization due to persistent hyperinsulinemic hypoglycemia (HH). Methods: This retrospective cohort study included infants >34 weeks of gestation at birth who were born in our hospital between 2018 and 2021, diagnosed with HH, and required diazoxide within the first 28 days of life. The baseline clinical characteristics, age at the time of diagnosis and treatment options in diazoxide resistance cases were recorded. Genetic mutation analysis, if performed, was also included. Results: A total of 32 infants diagnosed with neonatal HH were followed up. Among the cohort, 25 infants were classified as having transient form of HH and seven infants were classified as having congenital hyperinsulinemic hypoglycemia (CHI). Thirty-one percent of the infants had no risk factors. The median birth weight was significantly higher in the CHI group, whereas no differences were found in other baseline characteristics. Patients diagnosed with CHI required higher glucose infusion rate, higher doses, and longer duration of diazoxide treatment than those in the transient HH group. Eight patients were resistant to diazoxide, and six of them required treatment with octreotide and finally sirolimus. Sirolimus prevented the need of pancreatectomy in five of six patients without causing major side effects. Homozygous mutations in the ABCC8 gene were found in four patients with CHI. Conclusions: The risk of persistent neonatal hyperinsulinism should be considered in hypoglycemic neonates particularly located in regions with high rates of consanguinity. Our study demonstrated sirolimus as an effective treatment option in avoiding pancreatectomy in severe cases.Article The role of metabolic diseases in neonatal convulsions(European Review for Medical and Pharmacological Sciences, 2023) Serhat Samancı, Muhittin Çelik, Osman Aldeniz, İbrahim Değer, Nezir Özgün, Berat Kanar, Heybet TüzünObjective: The neonatal period is the most vulnerable time for the development of seizures, particularly in the first weeks after birth. These seizures often signify serious malfunction or damage to the immature brain and constitute a neurological emergency, necessitating urgent diagnosis and management. This study was performed to identify the etiology of convulsions during the neonatal period and to determine the rate of congenital metabolic disease. Patients and methods: A total of 107 term and preterm infants 0-28 days old who were treated and followed-up in the neonatal intensive care unit of our hospital between January 2014 and December 2019 were analyzed retrospectively based on data obtained by scanning the hospital information system and patient files. Results: The study population included 54.2% male infants, and 35.5% of infants were born by caesarean section. Birth weight was 3,016 ± 560 (1,300-4,250) g, mean length of gestation was 38 (29-41) weeks, and mean maternal age was 27.4 ± 6.1 (16-42) years. Of the infants, 26 (24.3%) were preterm and 81 (75.7%) were term deliveries. Examination of family history revealed 21 (19.6%) cases with consanguineous parents and 14 (13.1%) cases with a family history of epilepsy. Hypoxic ischemic encephalopathy was the most common etiology of the seizures (34.5%). Burst suppression was detected on amplitude integrated electroencephalography in 21 (56.7%) monitored cases. Although subtle convulsions were most common, myoclonic, clonic, tonic and unclassified convulsions were also observed. The convulsions appeared during the first week of life in 66.3% of cases and during the second week or later in 33.7%. Fourteen (13.1%) patients examined by metabolic screening due to suspected congenital metabolic disease had a different congenital metabolic diagnosis. Conclusions: Although hypoxic ischemic encephalopathy was the most common cause of neonatal convulsions in our study, congenital metabolic diseases with autosomal recessive inheritance were detected at a high rate.Conference Object Citation - WoS: 1Clinical characteristics of patients presented with primary adrenal insufficiency due to a p.R451W mutation in the CYP11A1 gene(Karger, 2023) Çayır, Atilla; Demirbilek, Hüseyin; Özbek, Mehmet Nuri; Kurt, İlknur; Karaoğlan, Murat; Albayrak, Serpil; Dündar, Bumin Nuri; Güran, Tülay; Kurt, LknurBackground and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC deficiency due to CYP11A1 gene mutation have been reported so far. The most common mutation is the c.1351C>T (p.R451W) mutation, which has been detected in 12 cases. We, herein, present the clinical characteristics of 14 cases presented with adrenal insufficiency due to p.R451W mutation in the CYP 11A1 gene. Design and method: Data were retrospectively collected from tertiary pediatric endocrine centers using a standardized proforma. Family history, presenting age, clinical, biochemical, and hormonal characteristics, treatment options, and the follow-up characteristics obtained during their latest follow-up visits were recorded. Results: 14 patients (M/F:7/7) from 10 consanguineous Turkish families were recruited. The mean age of the diagnosis was 3.8±2.4(Range: 1.04-8.5 years). All of the male subjects were completely virilized with no sign of DSD. The main presenting complaints were signs and symptoms of primary adrenal insufficiency. However, despite having signs and symptoms 3 subjects were diagnosed when investigated due to the history of their affected siblings. While glucocorticoid deficiency (elevated ACTH, low cortisol) was present in all cases, none of the male cases had undervirilization excluding androgen deficiency. Mild mineralocorticoid (MC) deficiency was detected in 10/14 of the cases which were recovered in 2 subjects during follow-up. More strikingly, one patient with no MC deficiency at presentation had developed a salt-wasting adrenal crisis during acute illness. Although a deterioration was detected in height SDS, there was not a statistically significant difference between height SDS at presentation (-0.64±1.4), at the latest follow-up visit(-0.90±1.4), and target height SDS (-0.63±0.6). Conclusion: In the present largest case series with a p.R451W mutation in the CYP11A1 gene our results confirmed a milder phenotype for all steroid hormones. Particularly lack of virilization defect in male subjects, and lack of salt-wasting crisis until a relatively late age of diagnosis suggested mild MC and androgen deficiency. Nevertheless, lack of MC deficiency at presentation does not exclude the risk of developing a salt-wasting adrenal crisis. Therefore special caution requires for patients with no MC replacement, particularly during acute illnesses.