Çocuk Sağlığı ve Hastalıkları Anabilim Dalı Koleksiyonu

Permanent URI for this collectionhttps://hdl.handle.net/20.500.12514/4204

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Clinical 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
Background 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.
Effectiveness of Valproic Acid in the Treatment of Sydenham's Chorea and a Literature Review
(Sage Publications inc, 2024) Ozgun, Nezir; Akdeniz, Osman
There is still no evidence-based guideline and consensus on the treatment Sydenham's Chorea (SC). The first-line medication preference of specialists depends on personal experience and is variable. In this study, we evaluate the treatment results of pediatric patients who were treated with valproic acid (VPA). The medical records of 17 patients diagnosed with SC were reviewed retrospectively. The mean time to clinical improvement was found as approximately 5 days, the mean duration of remission as 13.60 & PLUSMN; 3.94 weeks and the mean duration of medication use was found as 17.96 & PLUSMN; 3.81 weeks. No side effects were observed in any of the patients and relapse occurred in 2 patients. A positive correlation was found between the initial C-reactive protein (CRP) level and the duration of medication use. Until evidence-based guidelines are established, VPA can be used as an effective, safe, and inexpensive first-line treatment option, especially in pediatric patients.
MOLECULAR DIAGNOSIS IN PATIENTS WITH MONOGENIC DIABETES MELLITUS, AND DETECTION OF A NOVEL CANDIDATE GENE
(Elsevier, 2023) Gökşen, Damla; Evin, Ferda; Işık, Esra; Özen, Samim; Atık, Tahir; Özkınay, Ferda; Akcan, Neşe; Özkan, Behzat; Büyükinan, Muammer; Özbek, Mehmet Nuri; Darcan, Şükran; Onay, Hüseyin
Aim: 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.
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 Tüzün
Objective: 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.
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study
(Neuropediatrics, 2023) Özgün, Nezir; Günay , Çağatay; Aykol, Duygu; Özsoy, Özlem; Sönmezler, Ece; Hiz Kurul, Semra
Background: 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.
Thirteen-year surveillance results of acute flaccid paralysis cases in Southeast Turkey and the effect of refugee movements on surveillance results
(National Institute of Public Health, 2024) Özgün, Nezir; Kubat, Gülnaz; Turan, Birgül; Özgün, Mert; Toktaş, İzzettin; Korukluoğlu, Gülay
Objective: 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-Barré 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.

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