Çocuk Sağlığı ve Hastalıkları Anabilim Dalı Koleksiyonu

Bu koleksiyon için kalıcı URI

Güncel Gönderiler

Listeleniyor 1 - 16 / 16
  • Öğe
    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.
  • Öğe
    Our Treatment Experience in Poisoning With Calcium Channel Blockers: A Series of Twelve Cases
    (Brieflands, 2024) Talay, Mehmet Nur; Orhan, Özhan; Özbek, Mehmet Nuri; Kanğın, Murat; Turanlı, Eşe Eda
    Background: 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.
  • Öğe
    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.
  • Öğe
    Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children
    (IOS press, 2023 Sep) Gökçen Öz Tunçer , Aslıhan Sanri , Seren Aydin , Özlem M Hergüner , Nezir Özgün , Mustafa Kömür , Dilara F İçağasioğlu , Rabia Tütüncü Toker , Sanem Yilmaz , Elif Acar Arslan , Mesut Güngör , Gültekin Kutluk , İlknur Erol , Gülen Gül Mert , Burçin Gönüllü Polat , Ayşe Aksoy
    Background: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. Objective: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort. Methods: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Türkiye were retrospectively investigated. Results: Fifty-four patients (mean age:15.2 years (±5.5), 76% males, with 85% Becker, 15% Thomsen form) from 40 families were included. Consanguineous marriage rate was 67%. 70.5% of patients had a family member with Myotonia congenita. The mean age of disease onset was 5.7 (±4.9) years. Overall 23 different mutations (2/23 were novel) were detected in 52 patients, and large exon deletions were identified in two siblings. Thomsen and Becker forms were observed concomitantly in one family. Carbamazepine (46.3%), mexiletine (27.8%), phenytoin (9.3%) were preferred for treatment. Conclusions: The clinical and genetic heterogeneity, as well as the limited response to current treatment options, constitutes an ongoing challenge. In our cohort, recessive Myotonia congenita was more frequent and novel mutations will contribute to the literature.
  • Öğe
    The role of metabolic diseases in neonatal convulsions
    (European Review for Medical and Pharmacological Sciences, 2023 Feb) 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.
  • Öğe
    Effectiveness of Valproic Acid in the Treatment of Sydenham's Chorea and a Literature Review
    (SAGE PUBLICATIONS INC, 2023) Özgün, 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 ± 3.94 weeks and the mean duration of medication use was found as 17.96 ± 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.
  • Öğe
    Evaluation and management of neonatal onset hyperinsulinemic hypoglycemia: a single neonatal center experience
    (Taylor & Francis, 2023) Bezirganoğlu, Handan; Okur, Nilifer; Feryal Taş, Funda; Çelik, Kıymet; Özbek, Mehmet Nuri
    Objectives: 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.
  • Öğe
    (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.
  • Öğe
    Methemoglobinemia and acute ıntravascular hemolysis after naphthalene poisoning in a pediatric patient
    (SciELO Argentina, 2023) Orhan, Özhan; Talay, Mehmet Nur
    Poisoning 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 sale
  • Öğe
    Evaluation of breastfeeding behaviors and complementary feeding practices of Turkish and Syrian refugee mothers
    (SOC ARGENTINA PEDIATRIA, 2023) Orhan, Özhan; Elçi, Hüseyin
    Objectives: The purpose of this study was to compare breastfeeding and related factors (age, level of education, age at first pregnancy, etc.), and complementary feeding practices between Syrian refugee and native Turkish mothers. Material and methods: This descriptive-comparative study examined the nutritional characteristics of infants aged 9 to 60 months whose mothers were Turkish or Syrian refugees who attended Kızıltepe State Hospital between January 2022 and July 2022. Results: 204 mothers (126 Turkish and 78 Syrian) who had a child aged 9-60 months were included. The average age of the mothers was 27.60 ± 5.17 years for Turkish citizens and 28.91 ± 5.62 for Syrian refugees, without significant difference between the two groups (p: 0.091). Postpartum breastfeeding was 91.3% and breastfeeding duration was 12 (0-24) months in Turkish citizens; in Syrian refugees, breastfeeding was 84.6% and average breastfeeding time was 9 (0- 24) months (respectively, breast milk intake p: 0.144, uptake time p: 0.161; no statistical difference). Breastfeeding training was received by 23.8% of Turkish citizens and 5.1% of Syrian refugees; there was a significant difference between the two groups (p: 0.001). Conclusion: In refugee groups, infant and maternal nutrition practices are disrupted. Working in conjunction with local and international organizations and state agencies that give help to refugee groups, the appropriate interventions, initiatives, supports, and awareness-raising activities would strive to improve practices in mother and baby nutrition and narrow gaps.
  • Öğe
    Early puberty paradox: an investigation of anxiety levels of mothers and children, children's quality of life, and psychiatric diagnoses
    (SpringerLink, 2023) Kardaş, Burcu; Kardaş, Ömer; Demiral, Meliha; Özbek, Mehmet Nuri
    Early 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.
  • Öğe
    Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey
    (ScienceDirect, 2023) Özbek, Mehmet Nuri; Ergül Bozaci, Ayse; Er, Esra; Ünal, Aysel Tekmenuray; Tas, Ibrahim; Ayaz, Ercan; Durmaz, Asude; Aykut , Ayçe; Kose, Melis
    Background: Cerebral organic acid disorders are progressive neurometabolic diseases characterized by neurologic dysfunction. Glutaric aciduria type I (GA-I) and L-2-hydroxyglutaric aciduria (L2HGA) are the main cerebral organic acid disorders. They are both classified as, and it is suggested that these two disorders may share a common metabolic pathway. Current treatment strategies are based on levocarnitine, vitamin B2, and diet. Recent guidelines recommend a lysine-restricted diet up to six years of age, but there is no consensus for patients over the age of six. Vitamin B2 is exists in the blood as riboflavin and its cofactors, flavin mononucleotide and flavin adenine dinucleotide (FAD). FAD, the cofactor of L2HGD, accelerates the conversion of L-2-hydoxy glutarate to alpha-ketoglutarate. Levocarnitine stimulates the formation and excretion of derivatives of glutaric acid. Also, lysine-associated organic acidurias some results provide principal proof for the beneficial effects of riboflavin in GA-I. It has been previously reported that combination therapy with riboflavin and levocarnitine is effective for L2HGA as well as GA-I. Riboflavin and levocarnitine have been reported to improve not only clinical symptoms but also urinary 2-HGA levels. In our study, we aimed to evaluate the effect of the current treatment strategies and genotype on urinary metabolites and IQ scores in GA-I and L2HGA patients. Methods: The presented retrospective multicenter study included patients followed up in Diyarbakir Children's Hospital and Izmir Katip Celebi University Faculty of Medicine, Division of Pediatric Metabolism. Between 2016 and 2021, we retrospectively evaluated 35 patients with confirmed diagnosis of GA-I and L-2HGA. We analyzed the clinical, biochemical, neuroradiological, molecular data and treatment of the patients. The follow-up period was every 2 months until 12 months old, every 3 months until 6 years of age, and every 6 months thereafter. Therapy monitoring was undertaken during follow-up visits that included evaluation of clinical parameters, laboratory parameters, and dietary consumption records. Denver II was applied in order to evaluate children aged 0–6 years in terms of development. Patients between 6 and 16 years of age were evaluated using the Wechsler Intelligence Scale for Children-Revised. Results: We identified 25 with GA-I and 10 with L2HGA. The most common clinical symptoms were developmental delay, intellectual disability, and movement disorders. Behavioural problems were more common in L2HGA than in GA-I patients. In the same family, there were patients with severe developmental delay despite early diagnosis and treatment and individuals with normal IQ scores. In our study group, we used diet (lysine restricted or protein controlled), levocarnitine and vitamin B2 for GA-I patients. The mean urinary glutaric acid levels were decreased with treatment in GA-I patients. Group I consisted of 14/25 patients receiving lysine restricted diet and levocarnitine, Group II (8/25) received protein-controlled diet and levocarnitine. Group III (3/25) patients whom had p.Pro248Leu (P248L) variant, received riboflavin in combination with protein-controlled diet and levocarnitine. When we evaluated according to the treatment groups, a significant decrease was observed in urinary glutaric acid levels in group I. But there were no significant difference in Group II and III. The patients with c.1018C > T variant in GCDH gene had higher pre-treatment urinary metabolites and significant reduction in urinary metabolites with treatment was detected. In L2HGA patients, we used levocarnitine and vitamin B2. In all L2HGA patients, there was a significant decrease in the mean urinary 2- hydoxy glutarate with treatment. However, there was no significant difference between the c.164G > A and c.1115delT variants. The mean pre- and post-treatment IQ scores of GA-I patients, no significant difference was observed. Relative neurologic improvement was seen in three L2HGA patients. We found two novel variants, including the c.221A > G (p.Tyr74Cys) in the GCDH gene and the c.738 + 5A > G splice variant in the L2HGDH gene. Conclusions: Glutaric aciduria type I and L2HGA are the most common cerebral organic acidurias. Early and correct diagnosis is crucial. Poor prognosis based on metabolic crises and progressive deterioration still appears. In countries where newborn screening is not performed, a clinical suspicion index is required for cerebral organic aciduria. GA-I and L-2HGA are difficult to examine by medical evidence standards because of the small sample size, regional differences in newborn screening, and medical care limits. More clinical studies are needed to identify effective treatments. However, the significant decrease in urinary glutaric acid levels after treatment in patients on lysine-restricted diet raises the question of whether lysine-restricted diet should be continued after six years of age. We also reported our experience in order to contribute to the literature.
  • Öğe
    Clinical features of generalized lipodystrophy in Turkey: a cohort analysis
    (Wiley Online Library, 2023) Özbek, Mehmet Nuri; Yildirim Simsir, Ilgin; Tuysuz, Beyhan; Tanrikulu, Seher; Celik Guler, Merve; Akinci, Baris
    Aim: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up. Methods: This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months. Results: The Kaplan-Meier estimate of the median time to diagnosis of diabetes and/or prediabetes was 16 years. Hyperglycaemia was not controlled in 37 of 45 patients (82.2%) with diabetes. Hypertriglyceridaemia developed in 65 patients (90.3%). The Kaplan-Meier estimate of the median time to diagnosis of hypertriglyceridaemia was 14 years. Hypertriglyceridaemia was severe (≥ 500 mg/dl) in 38 patients (52.8%). Seven (9.7%) patients suffered from pancreatitis. The Kaplan-Meier estimate of the median time to diagnosis of hepatic steatosis was 15 years. Liver disease progressed to cirrhosis in nine patients (12.5%). Liver disease was more severe in congenital lipodystrophy type 2 (CGL2). Proteinuric chronic kidney disease (CKD) developed in 32 patients (44.4%) and cardiac disease in 23 patients (31.9%). Kaplan-Meier estimates of the median time to diagnosis of CKD and cardiac disease were 25 and 45 years, respectively. Females appeared to have a more severe metabolic disease, with an earlier onset of metabolic abnormalities. Ten patients died during the follow-up period. Causes of death were end-stage renal disease, sepsis (because of recurrent intestinal perforations, coronavirus disease, diabetic foot infection and following coronary artery bypass graft surgery), myocardial infarction, heart failure because of dilated cardiomyopathy, stroke, liver complications and angiosarcoma. Conclusions: Standard treatment approaches have only a limited impact and do not prevent the development of severe metabolic abnormalities and early onset of organ complications in GL.
  • Öğe
    Evaluation of Clinical, Biochemical, and Demographic Characteristics of Paediatric COVID-19 Patients Admitted to Dicle University Hospital
    (Cureus, 2023) Orhan, Özhan; Akay, Cihan; Şen, Velat
    Introduction and aim: In this study, we aim to determine how laboratory parameters were related to the clinical courses of patients admitted to the Dicle University Faculty of Medicine Department of Paediatrics and Paediatric Intensive Care Unit with COVID-19 diagnoses from March 2020 to November 2021. Materials and method: Clinical, biochemical and demographic characteristics of 220 patients between 0 and 16 years old with COVID-19 diagnoses at admission were analysed retrospectively. Results: We found that 57.3% of patients were male and 42.7% female, with a mean age of 107.8 ± 65.5 (range 1-192) months. Of the cases, 48.6% (n = 107) were asymptomatic, 35.5% (n = 78) were mild, 11.8% (n = 26) were moderately severe and 3.6% (n = 8) were severe. The patients’ site of admission, mortality rates, C reactive protein (CRP), lactate dehydrogenase (LDH), ferritin, and fibrinogen levels differed significantly (p < 0.001). Conclusion: It is important to learn about the clinical course of the disease by accurately interpreting the results of blood parameters and appropriate imaging studies.
  • Öğe
    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.
  • Öğe
    Investigation 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
    Objective: 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.