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Acute Ataxia in Childhood Clinical Presentation, Etiology, and Prognosis of Single-Center Experience
(Lippincott Williams & Wilkins, 2021) Kirik, Serkan; Aslan, Mahmut; Ozgor, Bilge; Gungor, Serdal; Aslan, Neslihan
Background Acute ataxia is a common reason for presentation to the pediatric emergency department and the pediatric neurology clinic in childhood. Its incidence is between 1/100,000 and 1/500,000. Its most common reason is infections. Objective The aim of this study was to examine the clinical presentation, etiological factors, and prognosis of patients presenting to our regional tertiary pediatric neurology clinic with a diagnosis of acute ataxia. Methods An evaluation was made of patients younger than 18 years diagnosed with acute ataxia in our tertiary pediatric neurology clinic between 2009 and 2016. Results Thirty-nine children were included in the analysis. Sex, age, diagnoses, treatment options, and clinical and radiological findings were evaluated. Acute postinfectious cerebellar ataxia was the most common diagnosis (21/39 [51.2%]). No agent could be identified in viral serological examination in 34 patients (87.2%). Rotavirus was identified in 2 (10.5%) of the acute postinfectious cerebellar ataxia cases, and varicella-zoster virus, herpes simplex virus, and hepatitis A positivities were each identified in 1 case. In 20 (51.2%) of 39 patients, varying treatments were applied according to the primary etiology. Conclusions Acute ataxia is a significant neurological problem in childhood. In this study, Rotavirus was the most common infectious agent. It may be related to vaccination. This study can be considered of value as the most comprehensive study conducted to date on this subject in the eastern region of Turkey.
Analysis of magnetic resonance imaging findings of children with neurologic complications after liver transplantation
(Springer-Verlag Italia Srl, 2017) Ozturk, Mehmet; Akdulum, Ismail; Dag, Nurullah; Sigirci, Ahmet; Gungor, Serdal; Yilmaz, Sezai
Objective To analyze the magnetic resonance imaging findings in children diagnosed with neurologic complications after liver transplantation (LT). Materials and methods A total of 39 patients diagnosed with neurologic complications following LT between 2010 and 2016. Neuroradiologic imaging was performed using cranial magnetic resonance imaging (MRI). Descriptive statistics regarding age, gender, type of complication, diagnostic and therapeutic modalities were calculated and presented as number and percentage. Results Our series consisted of 18 girls and 21 boys. Cryptogenic hepatitis (n = 13, 32%), metabolic diseases (Wilson's disease, tyrosinemia and glycogen storage disease) (n = 7, 18%) and fulminant toxic hepatitis (n = 4, 11%) constitute the most frequent indications for LT. The indications for neuroradiological imaging were convulsion and alteration of mental status. Conclusion These central nervous system complications may present in a variable spectrum and convulsions and altered mental state were the most frequent clinical pictures. Imaging studies were normal in approximately one-third of cases; the most frequent pathologic findings were diffuse cerebral edema, atrophy, and PRES. Clinical history, careful examination and integrated analysis of radiologic data as well as close collaboration and multidisciplinary approach are of utmost importance for establishing the diagnosis rapidly and accurately.
Analysis of magnetic resonance imaging findings of children with neurologic complications after livertransplantation
(Sprınger-verlag ıtalıa srl, vıa decembrıo, 28, mılan, 20137, ıtaly, 2017) Ozturk, Mehmet; Akdulum, Ismail; Dag, Nurullah; Sigirci, Ahmet; Gungor, Serdal; Yilmaz, Sezai
Objective To analyze the magnetic resonance imaging findings in children diagnosed with neurologic complications after liver transplantation (LT). Materials and methods A total of 39 patients diagnosed with neurologic complications following LT between 2010 and 2016. Neuroradiologic imaging was performed using cranial magnetic resonance imaging (MRI). Descriptive statistics regarding age, gender, type of complication, diagnostic and therapeutic modalities were calculated and presented as number and percentage. Results Our series consisted of 18 girls and 21 boys. Cryptogenic hepatitis (n = 13, 32%), metabolic diseases (Wilson's disease, tyrosinemia and glycogen storage disease) (n = 7, 18%) and fulminant toxic hepatitis (n = 4, 11%) constitute the most frequent indications for LT. The indications for neuroradiological imaging were convulsion and alteration of mental status. Conclusion These central nervous system complications may present in a variable spectrum and convulsions and altered mental state were the most frequent clinical pictures. Imaging studies were normal in approximately one-third of cases; the most frequent pathologic findings were diffuse cerebral edema, atrophy, and PRES. Clinical history, careful examination and integrated analysis of radiologic data as well as close collaboration and multidisciplinary approach are of utmost importance for establishing the diagnosis rapidly and accurately.
Antibodies to Borna Disease Virus in Children with Attention Deficit-Hyperactivity Disorder Borna disease virus serology in Attention Deficit-Hyperactivity Disorder
(Universitatsverlag Ulm Gmbh, 2009) Ozcan, Ozlem; Gungor, Serdal; Helps, Chris R.; Turan, Nuri; Tabel, Yilmaz; Saget, Hasan; Yilmaz, Hueseyin
Borna disease virus (BDV) causes behavioral disorders in rats infected in the newborn period. We investigated BDV serology in children with attention deficit hyperactivity disorder (ADHD). Method: Ninety-nine children with ADHD (mean age: 8.7 +/- 2.5) and 104 control children (mean age: 8.4 +/- 2.8) were included in the study. All sera were investigated using the Enzyme-Linked Immunosorbent Assay (ELISA) method for BDV antibodies. Results: The rate of sero-positivity was 2% (2 of 99) in ADHD and 3.8% (4 of 104) in the control group. There was no significant difference between ADHD and control group for BDV sero-positivity. Conclusion: Our results do not support a role of BDV infections in the pathogenesis of ADHD.
Autosomal recessive variants in TUBGCP2 alter the ?-tubulin ring complex leading to neurodevelopmental disease
(Cell Press, 2021) Gungor, Serdal; Oktay, Yavuz; Hiz, Semra; Aranguren-Ibanez, Alvaro; Kalafatcilar, Ipek; Yaramis, Ahmet; Karaca, Ezgi
Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (gamma-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consanguineous Turkish familywith dysmorphic features, developmental delay, brain malformation, and epilepsy carrying a homozygous mutation (p.Glu311Lys) in TUBGCP2 encoding the gamma-tubulin complex 2 (GCP2) protein. This variant is predicted to disrupt the electrostatic interaction of GCP2 with GCP3. In primary fibroblasts carrying the variant, we observed a faint delocalization of gamma-tubulin during the cell cycle but normal GCP2 protein levels. Through mass spectrometry, we observed dysregulation of multiple proteins involved in the assembly and organization of the cytoskeleton and the extracellular matrix, controlling cellular adhesion and of proteins crucial for neuronal homeostasis including axon guidance. In summary, our functional and proteomic studies link TUBGCP2 and the gamma-tubulin complex to the development of the central nervous system in humans.
Brain MRS findings in neonates with hypothyroidism born to mothers living in iodine-deficient area
(Karger, 2006) Akinci, Aysehan; Sarac, Kaya; Gungor, Serdal; Mungan, Ilke; Aydyn, Ozgur
[Abstract Not Available]
Brusellaya Bagli Trombositopenik Purpura
(Aves Yayincilik, Ibrahim Kara, 2009) Ozen, Metehan; Ozgen, Unsal; Gungor, Serdal
Brucellar infections are still a major public health issue in Mediterranean countries. Brucellosis may cause hematological abnormalities, particularly cytopenias. Severe thrombocytopenia leading to mucosal bleeding and purpuric rash is relatively infrequent. We herewith present three patients who were admitted with mucosal bleeding and purpura, and were finally diagnosed as brucellosis. The severe isolated thrombocytopenia, purpuric rash and compatible bone marrow findings on admission suggested the presumed diagnosis of ITP in all cases. All three patients received different treatment regimens and finally recovered without complications. There is no consensus regarding the management of brucella-induced thrombocytopenic purpura in the literature. The hematological consequences of brucellosis should always be kept in mind in the differential diagnosis of isolated thrombocytopenia in endemic areas.
Chanarin-Dorfman Syndrome: Clinical Features of a Rare Lipid Metabolism Disorder
(Wiley-Blackwell Publishing, Inc, 2009) Selimoglu, Mukadder Ayse; Esrefoglu, Mukaddes; Gul, Mehmet; Gungor, Serdal; Yildirim, Cigdem; Seyhan, Muammer
Chanarin-Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. In order to not underdiagnose the cases, screening of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma is needed. Few case reports revealing ultrastructural findings of skin and especially liver in that disorder were observed. Here we discuss clinical and electron microscopic findings of two siblings with CDS.
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort
(Wiley-Hindawi, 2024) Sonmezler, Ece; Stuani, Cristiana; Hiz Kurul, Semra; Gungor, Serdal; Buratti, Emanuele; Oktay, Yavuz
Although they are rare in the population, rare neurodevelopmental disorders (RNDDs) constitute a significant portion of all rare diseases. While advancements in sequencing technologies led to improvements in diagnosing and managing rare neurodevelopmental diseases, accurate pathogenicity classification of the identified variants is still challenging. Sequence variants altering pre-mRNA splicing make up a significant part of pathogenic variants. Despite advances in the in silico prediction tools, noncanonical splice site variants are one of the groups of variants that pose a challenge in their clinical interpretation. In this study, we analyzed the effects of seven splicing variants we had previously proposed as disease-causing and demonstrated that all but one of the seven variants had a strong or moderate effect on splicing, as assessed by a minigene assay. Next, applying U1 snRNAs engineered for different splicing variants in the corresponding genes and expressed with minigene plasmids in HeLa cells provided a partial correction in four of the studied genes to varying degrees. Findings from our study highlight the importance of in vitro minigene-based assays for the reclassification of putative splice-altering variants of uncertain significance and the therapeutic potential of modified U1 snRNAs in RNDDs.
Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey
(Wiley, 2021) Daimagueler, Huelya-Sevcan; Akpulat, Ugur; Oezdemir, Oezkan; Yis, Uluc; Gungor, Serdal; Talim, Beril; Diniz, Gulden
Congenital myopathies (CMs) are a heterogeneous group of inherited muscle disorders characterized by muscle weakness at birth, while limb-girdle muscular dystrophies (LGMD) have a later onset and slower disease progression. Thus, detailed clinical phenotyping of genetically defined disease entities are required for the full understanding of genotype-phenotype correlations. A recently defined myopathic genetic disease entity is caused by bi-allelic variants in a gene coding for pyridine nucleotide-disulfide oxidoreductase domain 1 (PYROXD1) with unknown substrates. Here, we present three patients from two consanguineous Turkish families with mild LGMD, facial weakness, normal CK levels, and slow progress. Genomic analyses revealed a homozygous known pathogenic missense variant (c.464A>G, p.Asn155Ser) in family 1 with two affected females. In the affected male of family 2, we found this variant in a compound heterozygous state together with a novel frameshift variant (c.329_332delTCTG, p.Leu112Valfs*8), which is the second frameshift variant known so far in PYROXD1. We have been able to define a large homozygous region in family 1 sharing a common haplotype with family 2 in the critical region. Our data suggest that c.464A>G is a Turkish founder mutation. To gain deeper insights, we performed a systematic review of all published PYROXD1-related myopathy cases. Our analysis showed that the c.464A > G variant was found in 87% (20/23) of the patients and that it may cause either a childhood- or adult-onset phenotype, irrespective of its presence in a homozygous or compound heterozygous state. Interestingly, only four patients had elevated CK levels (up to 1000 U/L), and cardiac involvement was found in few compound heterozygous cases.
Clinical and Imaging Findings in Childhood Posterior Reversible Encephalopathy Syndrome
(Iranian Child Neurology Soc, 2018) Gungor, Serdal; Kilic, Betul; Tabel, Yilmaz; Selimoglu, Ayse; Ozgen, Unsal; Yilmaz, Sezai; Sigirci, Ahmet
Objective Posterior reversible encephalopathy syndrome (PRES) is characterized by typical radiologic findings in the posterior regions of the cerebral hemispheres and cerebellum. The symptoms include headache, nausea, vomiting, visual disturbances, focal neurologic deficits, and seizures. The aim of this study is to evaluate the clinical and radiological features of PRES in children and to emphasize the recognition of atypical features. Materials & Methods We retrospectively examined 23 children with PRES from Mar 2010-Apr 2015 in Inonu University Turgut Ozal Medical Center in Turkey. We compared the clinical features and cranial MRI findings between underlying diseases of PRES. Results The most common precipitating factors were hypertension (78.2%) and medications, namely immunosuppressive and antineoplastic agents (60.8%). Manifestations included mental changes (100%), seizures (95.6%), headache (60.8%), and visual disturbances (21.7%) of mean 3.6 (range 1-10) days' duration. Cranial magnetic resonance imaging (MRI) showed bilateral occipital lesions in all patients, associated in 82.6% with less typical distribution of lesions in frontal, temporal or parietal lobes, cerebellum, corpus callosum, basal ganglia, thalamus, and brain stem. Frontal involvement was predominant, observed in 56.5% of patients. Clinical recovery was followed by radiologic resolution in all patients. Conclusion PRES is often unsuspected by the clinician, thus radiologists may be the first to suggest this diagnosis on an MRI obtained for seizures or encephalopathy. Atypical MRI finding is seen quite often. Rapid diagnosis and treatment are required to avoid a devastating outcome.
Clinical evaluation of cerebral MRI findings in children with cerebral palsy
(Bayrakol Medical Publisher, 2022) Durmaz, Sevda Canbay; Karabulut, Ahmet Kagan; Gungor, Serdal; Fazliogullari, Zeliha; Uysal, Ismihan Ilknur; Unver Dogan, Nadire
Aim: In this study, we aimed to investigate the frequency of lesions, which show the hypoxic-ischemic brain damage, their anatomical localization, the timing of the occurrence of the lesions and the causes using the magnetic resonance imaging (MRI) method.Material and Methods: MRI findings of 150 patient with cerebral palsy (CP) were analyzed. MRI findings, patients' ages, gender, type of birth, birth ages, relationship of parents, additional diseases to CP and clinical type of CP were evaluated. As a control group, 100 healthy children with normal MRI findings of the same age, their gender, types of birth, birth ages, parents relationship and data were compared with the data of children with CPResults: When etiological factors of CP and the control group were compared, male children were found to be more affected than female. In the age groups, children aged 1-5 were determined to have cerebral palsy more than in the other groups. Related with CP ethiogenesis, prematurity and low birth weight play important roles. On the other hand, negative hospital conditions during and after the birth as well as the curative effect of rapidly developing medical technologies on the babies with high mortality, also have important effects on CP ethiogenesis.Discussion: Our results show that there are some similarities and differences between the cerebral palsy group and the controls. It was also determined that the MRI method is important in CP diagnosis. Anatomical localisations of the lesions in the brain support the relevant clinical symptoms and thus play an important role in the differential diagnosis.
Clinical features and the role of magnetic resonance imaging in pediatric patients with intracranial hypertension
(Springer Heidelberg, 2021) Kilic, Betul; Gungor, Serdal
Increased intracranial hypertension (IIH) is a defined clinical condition; however, an unsolved pathophysiologic background usually creates problems in its diagnosis and proper approach. The aim of this study was to emphasize the clinical conditions and brain magnetic resonce imaging (MRI) clues of pediatric patients, especially this clinical entity with high morbidity. Here, we review the etiology, clinical presentation, brain MRI findings, and prognosis of IIH in children. The symptoms' onset age ranged from 9 months to 16 years. Headache (81%), vomiting (37%), and diplopia (33.3%) were the most frequent symptoms. The most common etiologic factors were found to be obesity and dural venous sinus thrombosis. Cerebrospinal fluid (CSF) opening pressure had mean a mean value of 615.2 +/- 248 mm H2O. A significant relationship was found between visual field impairment and height of CSF pressure (p < 0.001). Optic nerve sheath enlargement (88.8%) and optic nerve tortuosity (85.1%) were found as the most common brain MRI findings. Slit-like ventricle (37%), venous sinus thrombosis (29.6%), posterior globe sclera flattening (29.6%), empty sella (25.9%), and intraocular protrusion of the optic nerve (14.8%) were the other findings. A significant relationship was found between CSF opening pressure and the presence of optic nerve tortuosity (p = 0.002), and distension of the optic nerve sheath (p = 0.006). All patients received acetazolamide, only one patient underwent lumboperitoneal shunt, and only one received steroids. In children, IIH can present with different etiologies and symptoms. Brain MRI provides crucial clues in diagnosis. Urgent diagnosis and treatment planning are required to protect vision functions.
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families
(Ios Press, 2020) Oktay, Yavuz; Gungor, Serdal; Zeltner, Lena; Wiethoff, Sarah; Schoels, Ludger; Sonmezler, Ece; Yilmaz, Elmasnur
Background: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease. Objective: In this report, we describe two independent consanguineous families carrying pathogenic variants in TACO1, confirming the phenotype. Methods: Detailed clinical investigations and whole exome sequencing with haplotype analysis have been performed in several members of the two reported families. Results: Clinical phenotype of the patients confirms the originally reported phenotype of a childhood-onset progressive cerebellar and pyramidal syndrome with optic atrophy and learning difficulties. Brain MRI showed periventricular white matter lesions with multiple cystic defects, suggesting leukoencephalopathy in both patients. One patient carried the previously described homozygous TACO1 variant (p.His158ProfsTer8) and haplotype analysis suggested that this variant is a rare founder mutation. The second patient from another family carried a homozygous novel frame shift variant (p.Cys85PhefsTer15). Conclusions: The identification of two Turkish families with similar characteristic clinical presentation and an additional homozygous nonsense mutation confirms that TACO1 is a human mitochondrial disease gene. Although most patients with this clinical presentation undergo next generation sequencing analysis, screening for selected founder mutations in the Turkish population based on the precise clinical presentation may reduce time and cost of finding the genetic diagnosis even in the era of massively parallel sequencing.
Early and late neurological complications of liver transplantation in pediatric patients
(Wiley, 2017) Gungor, Serdal; Kilic, Betul; Arslan, Mujgan; Selimoglu, M. Ayse; Karabiber, Hamza; Yilmaz, Sezai
NCs occur commonly after solid organ transplantation and affect 15%-30% of liver transplant recipients. The aim of this retrospective study was to evaluate the type and incidence of neurologic events in pediatric patients following LT. Between May 2006 and June 2015, 242 patients (118 females, 124 males) requiring LT for different etiologies at the nonu University Liver Transplantation Institute were included. The incidence, types, and risk factors of NCs that occurred following LT were evaluated retrospectively. Neurologic events occurred in 57 (23.5%) of the patients. Early NCs were encephalopathy (12.4%), seizures (11.5%), and PRES (7%). Of 57 patients, five (8.7%) experienced NCs at least 1 month after LT; these late NCs included tremor, headaches, encephalopathy, ataxia, and neuropathy. The psychiatric symptoms after LT were noted in 42 patients (17.4%). The mortality rate after LT in those with or without neurological events was not significantly different (P=.73). There was a high incidence of serious neurologic events after LT. The major neurologic manifestation in our patients was encephalopathy followed by seizures.
Effect of Piracetam and Iron Treatment on Heart Rate Variability in Patients With Breath-Holding Spell
(Elsevier Science Inc, 2024) Oncul, Mehmet; Elkiran, Ozlem; Karakurt, Cemsit; Gungor, Serdal; Maras, Serdar Akin; Bag, Harika Gozde Gozukara
Background: Breath-holding spells are a benign condition primarily seen in 3% to 5% of healthy children aged between six months and five years. Although no specific treatment is recommended due to its benign nature, iron and piracetam are used in severe or recurrent cases. We planned to compare the heart rate variability (HRV) before and after treatment with 24 -hour Holter monitoring in patients receiving iron and piracetam treatment and investigate the treatment's effectiveness. Methods: Twenty-five patients who applied to the outpatient clinic between 2013 and 2015 due to breath-holding spells were included in the study. The patients who received piracetam and iron therapy and underwent 24 -hour rhythm Holter monitoring were evaluated retrospectively. Results: Fourteen (56%) of these patients were evaluated as having cyanotic-type and 11 (44%) patients were assessed as having pale -type breath-holding spells. A significant difference was found only between hourly peak heart rate and total power in the group receiving iron treatment. Significant differences were also found among the minimum heart rate, mean heart rate, the standard deviation of RR intervals, the mean square root of the sum of the squares of their difference between adjacent RR intervals, spectpow, and low frequency before and after the treatment in the patients who started piracetam treatment ( P < 0.05). Conclusions: Our study is critical as it is the first to investigate the effects of treatment options on various HRV in patients with breath-holding spells. There were statistically significant changes in HRV parameters in patients receiving piracetam, and the number of attacks decreased significantly. Piracetam treatment contributes positively to the breath-holding spell with regard to efficacy and HRV, therefore it can be used to treat breath-holding spells. (c) 2024 Elsevier Inc. All rights reserved.
Effectiveness of zonisamide in childhood refractory epilepsy
(Springer, 2022) Aslan, Mahmut; Gungor, Serdal
Introduction Zonisamide (ZNS) is a new generation antiepileptic drug (AED) used in refractory epilepsy. This study assessed the effectiveness and reliability of ZNS in childhood refractory epilepsy. Method Sixty-eight epilepsy patients who were followed up in the paediatric neurology clinic, between 2013 and 2019, and in whom add-on therapy ZNS had been added as their seizures had continued despite multiple drugs being used, were included in this retrospective study. Their demographic findings, seizure aetiology, pre-treatment and post-treatment electroencephalography findings, treatment responses and any side effects of the drugs given were assessed in these patients. Results There were 46 (67.6%) patients in the refractory generalized epilepsy (RGE) group using multiple AEDs and 22 (32.35%) patients in the refractory focal epilepsy (RFE) group. Of these patients, 12 (17.65%) were being followed up for idiopathic epilepsy and 8 (11.76%) were being followed up for epilepsy of unknown aetiology. Twenty-two (32.36%) patients were followed up for structural abnormality, 8 patients (11.77%) were followed up for genetic disease, 4 patients (5.88%) were followed up for infectious sequel, 14 patients (20.59%) were followed up for metabolic reasons. In the RGE group, a more than 50% reduction was found in the seizures of 26 (56.5%) patients, while the seizures of 7 (15.2%) patients were found to have terminated completely. In the RFE group, a more than 50% reduction was found in the seizures of 19 (86.4%) patients, while the seizures of 2 (9.1%) patients were found to have terminated completely. The termination or a more than 50% reduction in seizures in 4 of the 6 patients followed up for a diagnosis of tuberous sclerosis complex (TSC) was significant. Conclusion ZNS is an effective and reliable option as an add-on therapy in paediatric refractory epilepsy, especially in focal epilepsy. It can also be considered for treatment in TSC patients.
The effects of iron and zinc status on prognosis in pediatric Wilson's disease
(Elsevier Gmbh, 2019) Gungor, Sukru; Selimoglu, Mukadder Ayse; Varol, Fatma Ilknur; Gungor, Serdal; Uremis, Muhammed Mehdi
Objectives: Wilson's disease (WD) is a metabolic disorder leading to hepatic and extrahepatic copper deposition. Several studies have reported that besides copper (Cu), iron (Fe) and zinc (Zn) are also accumulated at varying levels in various tissues in WD. However, there is not an adequate number of studies investigating the effects of Fe and Zn status on WD presentation and prognosis. We aimed to evaluate serum levels of ferritin (SFr), copper (SCu), and zinc (SZn) in WD and determine their role in disease presentation and prognosis. Materials-Method: We retrospectively reviewed the medical records of 97 pediatric patients with WD who were diagnosed and followed at Inonii University Pediatric Gastroenterology, Hepatology and Nutrition Department between January 2006 and May 2017. Serum Cu and Zn levels were analyzed by using flame atomic absorption spectrophotometer. Ferritin was analyzed by chemiluminescence immunoassay method. Results: Analysis of serum levels of the elements according to the type of presentation, there was no significant difference between the groups for ceruloplasmin. However, SCU, FSCu, SFr and 24 h urinary copper levels were significantly higher (p = 0.002, p = 0.003, p = 0.023 and p < 0.001, respectively) and SZn and CSZn levels were significantly lower (fulminant WD). p < 0.001, p < 0.001). There was a positive correlation between SFr, SCu serum levels and mortality scores (respectively, r: 0.501, 0.564 for PELD, r:0.490, 0.504 for MELD, r: 0.345, 0.374 for Dhwan), and a negative correlation between SZn level and mortality scores. (r:-0.650 for PELD, r:0.703 for MELD, r:-0.642 for Dhwan) We used the ROC curves to determine the worst prognosis for fulminant Wilson disease. According to these limit values, we found that the sensitivity and specificity of FWD development was significantly higher. (for SZn sensitivity of 91.5%, a specificity of 100%, p= < 0,001, for SCu predicted FWD development with a sensitivity of 100%, a specificity of 73.7%, p = < 0,001, for SFr predicted FWD development with a sensitivity of 92.9%, a specificity of 66.2%, p < 0,001) Conclusion: Our study suggests that SFr, SCu, SZn levels might have prognostic importance for WD.
Efficacy of Levetiracetam Monotherapy in Childhood Epilepsy
(Kare Publ, 2017) Arslan, Mujgan; Gungor, Serdal; Kilic, Betul
Objectives: Levetiracetam (LEV) is an antiepileptic drug approved particularly for treatment of focal seizures. The aim of this study was to investigate efficacy and tolerability of LEV monotherapy in pediatric patients. Methods: In the present study, records of 225 children (aged 1 month-18 years) treated with LEV and with follow-up for at least 1 year were evaluated. Diagnosis of epilepsy included history of 2 or more unprovoked seizures. Demographic characteristics, reason for antiepileptic treatment, dosage of levetiracetam, duration of treatment, antiepileptic drugs used previously, seizure type, seizure duration, cranial magnetic resonance images, electroencephalogram results, seizure etiology, and side effects of the drug were documented. Results: Total of 225 patients, 95 girls and 130 boys, were enrolled in the study. Of those, 125 (55.6%) patients had generalized seizures, 90 (40%) had focal seizures, and 10 (4.4%) had other type of seizures. In treatment, 186 (82.7%) patients remained seizure-free. There was no difference in effectiveness of LEV on partial or generalized epilepsy. Overall, 8 (18%) patients had adverse events. Most common side effects observed were irritability and nervousness. There was no relationship between drug dosage and side effects. Conclusion: LEV monotherapy is effective in childhood epilepsy with focal or generalized seizures. It is well tolerated in spite of mild and transient side effects, which do not require drug discontinuation.
Emotional Dysregulation and Temperament-Character Traits in Adolescents With Functional Neurological Symptom Disorder (Conversion Disorder)
(Lippincott Williams & Wilkins, 2024) Ucuz, Ilknur; Cicek, Ayla Uzun; Celik, Merve Komurcu; Akan, Mustafa; Kesriklioglu, Esma; Gungor, Serdal; Ozcan, Ozlem Ozel
The purpose of this study was to evaluate emotion dysregulation and temperament-character traits in adolescents with functional neurological symptom disorder (FNSD). Forty adolescents with FNSD and 40 healthy adolescents were evaluated by a semiconstructed diagnosis interview, Temperament and Character Inventory (TCI), Difficulties in Emotion Regulation Scale (DERS), Regulation of Emotions Questionnaire (REQ), and Children's Somatization Inventory-24 (CSI-24). The external and internal dysfunctional emotion regulation scores of REQ, all subscales of DERS, except the awareness subscale, and CSI-24 scores were significantly higher in FNSD patients compared with healthy controls. There were significant differences between the groups in terms of harm avoidance and reward dependence subscale scores of TCI. Multiple logistic regression analysis showed that the external dysfunctional emotion regulation strategy, somatization, and reward dependence are significant predictors of FNSD. Our results provide evidence that adolescents with FNSD experience emotional dysregulation and that the differential value of some temperament-character traits in the diagnosis of FNSD.

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