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This study aims to examine the impact of human resource management strategies on gaining a competitive advantage in Jordanian commercial banks. Human resource strategies can help organizations achieve their goals by attracting and retaining skilled workers who contribute to the organization’s competitive advantage. A competitive environment requires effective human resource strategies. Thus, the study utilizes a descriptive analysis approach to analyze the data and test the hypotheses through SPSS and PLS-SEM-4. The study population comprises 13 banks, and the sample includes all employees of human resources departments. A total of 411 respondents joined a comprehensive survey, and 405 questionnaires were deemed valid. The findings reveal that human resource management strategies have a positive impact on competitive advantage (p = 0.000) and organizational climate (p = 0.000); organizational climate positively affects competitive advantage (p < 0.001). Furthermore, the study shows an indirect relationship between human resource management strategies and competitive advantage through organizational climate (p < 0.001).

This study investigates how key audit matter (KAM) characteristics influence financial statement understandability and subsequent investor decision making. Using Structural Equation Modeling-Variance Based (SEM-VB) through Partial Least Squares (PLS), the analysis was conducted on a diverse global sample of investors from Europe, North America, Asia-Pacific, Africa, and Latin America. The results indicate that KAM accuracy, reliability, audit quality, and financial reporting quality significantly enhance perceived financial statement understandability, which in turn positively impacts investor judgments. The mediating role of understandability is confirmed, emphasizing its crucial influence on investors’ decisions. Additionally, an importance-performance map analysis (IPMA) identified KAM reliability and accuracy as the most critical factors. This study contributes to the theoretical and managerial understanding of audit practices and investor behavior.

In today’s dynamic organizational landscape, characterized by rapid technological advancements and evolving workplace dynamics, understanding the factors influencing employee well-being is paramount. This study investigates the interplay between ethical leadership, organizational climate, role overload, and job burnout in public healthcare organizations across northern Jordan. By focusing on ethical leadership, organizational climate, and role overload as determinants of job burnout, this research provides insights into strategies for enhancing employee well-being. Drawing on ethical leadership theory, social exchange theory, and the job demands–resources model, this study employs PLS-SEM to analyze data collected from 260 employees working in Jordanian government hospitals. The findings reveal negative associations between ethical leadership and job burnout, highlighting the importance of ethical leadership behaviors in mitigating employee burnout. Additionally, a positive organizational climate is associated with lower levels of burnout, underscoring the impact of the broader organizational context on employee well-being. The study also explores the mediating role of organizational climate and the moderating effect of role overload in the relationship between ethical leadership and job burnout, providing insights into the complex dynamics at play in healthcare organizations. These findings enrich our understanding of the factors influencing employee well-being in healthcare contexts and underscore the importance of fostering ethical leadership and supportive organizational climates to mitigate job burnout.

This study investigate the effects of high involvement human resources on organizational performance. The study is accomplished through hypothesizing the effect of high involvement work sys-tems on performance as the main relationship. This effect is theorized to be mediated through knowledge-based capital. Additionally, leadership style is considered as the potential moderating force in the theorized model. Data is analyzed from 380 collected questionnaires distributed among hotel employees in Jordan using structural equation modelling techniques. The results show that high involvement work systems had a positive effect on performance, social and human capital. Human and social capital mediating role is also observed. Finally, leadership style is emerged as a moderating variable affecting the relationship between high involvement work systems and performance. The findings of this study show the importance of the role played by human and knowledge-based capital in achieving human resources performance goals.

INTRODUCTION[|]To evaluate to changes and the reasons of the changes in intraocular pressure (IOP) and central corneal thickness (CCT) in the first 24 hours of life of full-term newborns.[¤]METHODS[|]IOP,CCT measurements were determined by using Tono-Pen XL tonometer,portable pachymeter.In this prospective study we evaluate IOP and CCT of the 32right eyes of 32 newborn infants by vaginal delivery.The data was included.IOP and CCTmeasurements taken at 5th minutes just after the delivery and 24th h of the first day of the post partum period.Infant weights,heights,gender APGAR scores and gestational ages were also obtained.[¤]RESULTS[|]The mean IOP and CCT of right eyes was decreased significantly from18.67 +- 3.28 mmHg and684.72 +- 58.79 µm at the fifth minute after delivery to16.10 +- 2.87 mmHg and 611.28 +- 49.41 µm at the 24th hour of the postpartum period(p < 0.0001).There was no statistically difference between right-left eyes in terms of IOP and CCT at any measurement point. [¤]DISCUSSION AND CONCLUSION[|]We found that the mean IOP and CCT was decreased significantly between the values at the fifth minute after delivery and the 24th hour of the postpartum period.There is a need for more research to investigate the changes and the causes in IOP and CCT of newborns.[¤]

This study is aimed at verifying the conception that a strong corporate culture supported with a positive ethical environment is central for directing and guiding the behavior of individuals toward achieving organizational objectives. The rationale for this study stems from the circumstance that formal controls systems suffer from consecutive failures, as the performance of organizations is still suffering from financial collapses. Reasons behind such failures might be related to the insufficient appreciation of the culture-based controls given that formal controls are influenced by the human nature of employees and the affixed moral side.Data subject to analysis are obtained from a judgmental sampling method using a self-completion questionnaire covering the listed companies at Jordan Securities Commission. A factor analysis and a standard multiple regression analysis have been conducted with the aim of proving the hypotheses of the research. The research results show that strong corporate culture supported with a positive ethical environment can direct the behavior of employees for the good of organizations. Results also support the importance of involvement of top management considering its role in filling the gap between the embraced and the workable values and beliefs of an entity.

Orbital inflammatory syndrome (OIS) or orbital pseudotumor is the most frequent cause of an orbital mass. Most cases are steroid responsive, but treatment of patients with refractory OIS may also include radiotherapy. Presently described are 3 cases of orbital pseudotumor that had a partial steroid response or recurrence and were treated successfully with CyberKnife (Accuray Inc., Sunnyvale, CA, USA).

Objective. Acute mercury intoxication among children can occur through unintentional exposure, and neurotoxicity is one of the main findings in acute exposures. In this study, we aimed to study the central nerve system markers, namely neuron-specific enolase (NSE), S100B, and glutamate receptor (GRIA 1) levels and discuss the mechanisms of central nerve system damage and whether these parameters could be used as markers of acute elemental mercury intoxication neurotoxicity. Materials and methods. This is a case-control study which includes 169 children with acute elemental mercury intoxication, who were exposed to mercury in the school laboratory from a broken jar, and 45 sex- and age-matched controls without mercury exposure. Patient group were divided into three subgroups according to the neurological examination performed during the admission. Neuropathy Group included the children with neurological symptoms including peripheral neuropathy and decreased muscle strength ( n = 39) (with or without dilated pupils). Dilated Pupil Group included the children who had mid-dilated/dilated pupils ( n = 52). Asymptomatic Exposure Group included the children who did not have any neurological symptoms ( n = 78). Serum NSE, S100B, GRIA 1, blood, and urine mercury levels were determined. Results. NSE, S100B, GRIA 1, and blood mercury levels were significantly higher in exposed group than the nonexposed subjects (Median values NSE 22.4 ng/mL, 17.2 ng/mL; S100B 0.09 ng/mL, 0.08 ng/mL; GRIA 1 70.6 pg/mL, 54.1 pg/mL, and blood mercury 15.2 μg/L, 0.23 μg/L for exposed and nonexposed groups, respectively). GRIA 1 levels found to differ between exposed and nonexposed groups and it has also been found to be increased in the subgroups with positive neurological findings compared to that in neurological finding negative groups. S100B levels were found to be increased in exposed and having neurological symptom groups. There was not a significant difference between exposed-not having neurological symptom patients and control group. NSE levels were found to be higher in all subgroups when compared to those in controls, however there was not a significant difference between the subgroups. Conclusion. Serum NSE, GRIA 1, and S100B were increased with mercury exposure. GRIA 1 and S100B levels were observed to have the power to discriminate neurological symptom positive and negative groups. The increase in S100B levels are thought to be protecting the neurons and preventing further NSE elevations. [ABSTRACT FROM AUTHOR]

The present research assesses the influence of globalization and technological innovation on CO2 emissions in South Korea as well as taking into account the role of renewable energy consumption and energy consumption utilizing datasets between 1980 and 2018. The autoregressive distributed lag (ARDL) bounds testing method is utilized to assess long-run cointegration. The outcome of the ARDL bounds test confirmed cointegration among the series. Furthermore, the ARDL reveals that economic growth, energy consumption and globalization trigger environmental degradation while technological innovation improves the quality of the environment. In addition, the study employed the frequency domain causality test to capture causal linkage among the series. The major advantage of this approach is that causal linkage between series can be captured at the short, medium and long term, respectively. The outcomes of the causality test revealed that globalization, technological innovation, economic growth and energy use can predict CO2 emissions in South Korea.

Comments on the article `Low serum C3, leucopenia and thrombocytopenia: unusual features of Henoch Schonlein purpura,' by I. Krause et al. that appeared in one of the 2001 issues of `European Journal of Pediatrics.' Evaluation of the data of children with acute HSP; Basis of the diagnosis of HSP; Data of a number of patients with HSP.

Introduction: Sleep disturbances are being increasingly recognized in association with autoimmune encephalitis (AIE). We investigated the prevalence of sleep-related symptoms and polysomnographic features of patients with AIE and the long-term outcomes in these patients in a multi-center, prospective study from Turkey., Methods: We prospectively evaluated patients with definite AIE in a common database including demographics, AIE-related and sleep-related symptomatology. Maximum and latest modified Rankin scores (mRS) and Liverpool Outcome Score (LOS) were noted., Results: Of 142 patients, 87 patients (61.3%) fulfilled the criteria for definite AIE (mean age, 46.8+18.8 years; 51.7% women; mean disease duration, 21.0+38.4 months). 78.9% of patients had at least one or more new onset or worsened sleep-related symptomatology: insomnia (55.3%), excessive daytime sleepiness (EDS, 28.0%), sleep apnea (18.7%), REM sleep behavior disorder (RBD, 17.3%), restless legs syndrome (10.7%) and oneiric stupor (9.3%). Sleep efficiency, N3 and REM sleep were decreased and N1 sleep was increased in patients with Ab[+] AIE. LOS points were highest in those with insomnia and sleep apnea, and lowest in those with EDS, RBD and oneiric stupor. RBD and sleep apnea were more common in anti-LG1 Ab[+] group than anti-NMDAR Ab[+] group. Index of periodic leg movements was highest in anti-LG1 Ab[+] group. Patients with EDS and oneiric stupor had more common memory problems. Maximum and latest mRS scores were positively correlated with EDS and oneiric stupor. EDS, RBD and oneiric stupor were negatively correlated with LOS points., Conclusion: Our study emphasizes the presence and importance of early diagnosis of sleep disturbances in AIE in regard to their deteriorative influences on disease prognosis., (© 2024. The Author(s).)

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patients with PCH in Turkey. The genetic analysis included the whole-exome sequencing (WES), targeted next-generation sequencing (NGS), or single gene analysis. Sixty-four patients with PCH were 28 female (43.8%) and 36 (56.3%) male. The patients revealed homozygous mutation in 89.1%, consanguinity in 79.7%, pregnancy at term in 85.2%, microcephaly in 91.3%, psychomotor retardation in 98.4%, abnormal neurological findings in 100%, seizure in 63.8%, normal biochemistry and metabolic investigations in 92.2%, and dysmorphic findings in 51.2%. The missense mutation was found to be the most common variant type in all patients with PCH. It was detected as CLP1 (n = 17) was the most common PCH related gene. The homozygous missense variant c.419G > A (p.Arg140His) was identified in all patients with CLP1. Moreover, all patients showed the same homozygous missense variant c.919G > T (p.A307S) in TSEN54 group (n = 6). In Turkey, CLP1 was identified as the most common causative gene with the identical variant c.419G > A; p.Arg140His. The current study supports that genotype data on PCH leads to phenotypic variability over a wide phenotypic spectrum., (© 2024. The Author(s).)

Background: Proprioceptive neuromuscular facilitation (PNF) is generally used for the lower limbs in children with Cerebral Palsy (CP). This study aimed to determine the effect of PNF and Neurodevelopmental Therapy (NDT) on functional abilities, muscle strength, and trunk control in children with CP., Methods: Thirty spastic CP children classified as either level I-II in the Gross Motor Function Classification System (GMFCS) or level I-II in the Manual Ability Classification System (MACS) were included. The PNF (n = 15) and the NDT group (n = 15) had physiotherapy for six weeks. The ABILHAND-Kids scale, the Purdue Pegboard Test (PBPT), the Nine-Hole Peg Test (9-HPT), and the Jebson-Taylor Hand Function Test (JTHFT) were employed. Pinch meters, Jamar handheld dynamometers, and digital muscular strength assessments were used., Results: The PNF group increased shoulder flexion (p < 0.05), adduction (p < 0.05), elevation (p < 0.05), scapular abduction (p < 0.05), elbow extension (right) (p < 0.05), grip (p < 0.05), and pinch strengths (left p < 0.05, right p < 0.05). The PNF group had significantly lower 9-HPT (p < 0.05), JTHFT (card turning), JTHFT (simulated feeding), JTHFT (lifting light cans), and JTHFT (lifting weight cans) durations (p < 0.05), and significantly higher PBPT (right-left) PBPT (bimanual), PBPT (assembly). (p < 0.05), ABILHAND (p < 0.05), and TCMS total scores (p < 0.001). While JTHFT (simulated feeding-left), JTHFT (stacking checkers-left), JTHFT (lifting light cans-left), and JTHFT (lifting weight cans-right/left) (p < 0.05) durations decreased in the NDT group, PBPT (right) (p < 0.05) had an increase in duration., Conclusion: PNF improves trunk control, upper extremity functional skills, selective proximal muscle strength, and distal upper extremity muscle and grip strength., Competing Interests: Declaration of competing interest No conflict of interest was declared by the authors., (Copyright © 2024 Elsevier B.V. All rights reserved.)

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., Competing Interests: None declared., (Thieme. All rights reserved.)

Objectives: Developmental and epileptic encephalopathies (DEEs) are heterogeneous severe neurodevelopmental disorders characterized by recurrent clinical seizures that begin in the neonatal period and early childhood and regression or delay in cognitive, sensory and motor skills in the context of accompanying epileptiform abnormalities. Adaptor-related protein complex 3 beta-2 subunit (AP3B2) gene variants are thought to cause disruption of neuron-specific neurotransmitter release., Methods: In this case report, whole exome sequencing (WES) was performed on two of the four pediatric patients who came from two unrelated families and were affected by DEE. As a result of WES, previously unreported variants, that is, p.Ala149Serfs* 34 and p.Pro993Argfs* 5, were detected in the AP3B2 gene. These variants were studied using Sanger sequencing in the siblings affected by DEE of the said pediatric patients and in their healthy parents., Results: Autosomal recessive variants of the AP3B2 are associated with the development of DEE. To date, only 14 cases of AP3B2 mutations have been reported in the literature. Consequentially, DEE phenotype involving severe global developmental delay emerged, which is characterized by early-onset infantile epileptic encephalopathy, severe hypotonia, postnatal microcephaly, poor eye contact, speech retardation, abnormal involuntary movements, stereotypical hand movements, progressive intellectual disability, and behavioral and neuropsychiatric findings., Conclusion: Given the limited number of patients reported in the literature, detailed studies of the specific clinical and molecular features of AP3B2 gene variants, will shed light on the genotype-phenotype correlation., Competing Interests: Declaration of Competing Interest The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Therapeutic plasma exchange (TPE) can be applied as an effective therapeutic option in children with hematological, neurological, nephrological, and autoimmune/rheumatic disorders. We aimed to report our TPE experience in pediatric patients. In this article, we retrospectively reviewed the records of pediatric patients who underwent TPE between 2019 and 2021. A total of 128 TPE sessions were performed in 25 patients (13 males,12 females; mean age 59.6 ± 11.7 [3-198] months). The TPE indications were sepsis with/without multiorgan dysfunction syndrome in five patients, acute liver failure, hemolytic uremic syndrome caused by Shiga toxin, and autoimmune hemolytic anemia in three patients, respectively, multiple sclerosis, autoimmune encephalitis, and multisystem inflammatory syndrome in children (MIS-C) in two patients each, and myasthenia gravis crisis, meningococcemia, hemolytic uremic syndrome caused by coronavirus disease 2019, hemophagocytic lymphohistiocytosis, autoimmune encephalitis, and metabolic disease (fatty acid oxidation defect, liver failure) in one patient each. Based on our findings, we proposed that the American Society for Apheresis criteria should be updated according to newly described clinical conditions such as MIS-C., Competing Interests: Conflict of Interest None declared., (Thieme. All rights reserved.)

Introduction: Very few studies have evaluated the association between mercury exposure and oxidative stress in humans, particularly in children., Aim: This is the first report where we aimed to determine the oxidative stress status of children who were accidentally exposed to elemental mercury., Materials and Methods: In the present study, the study group was composed of 86 randomly selected children poisoned by mercury; the control group was composed of 78 children who had no history of mercury exposure. At admission, blood samples were collected. Blood superoxide dismutase activity, catalase enzyme activity, and glutathione peroxidase activity were measured by Fridovich, Beutler, and Lawrence Burk methods respectively, and the results were given as U/g Hb. Malondialdehyde level was measured by Ohkawa methods, and the results were given as mmol/ml., Results: Catalase activity was significantly lower in the patient group compared to the control group (1.28±0.62 vs. 3.90±0.86 U/g Hb, p=0.010). In exposed children, SOD activity was significantly higher than the controls (5936±810 vs. 2226±464 U/g Hb, p=0.03), while the GSH-Px activity was significantly lower (13.01±3.21 vs. 34.97±7.32 U/g Hb, p=0.013). The MDA levels of the mercury group were significantly higher than the MDA levels of the control group (2.85±0.84 vs. 2.05±0.79 mmol/ml, p=0.04)., Conclusions: The results of the present study showed that acute mercury poisoning causes an alteration of oxidative stress status in children exposed to elemental mercury., (This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Background and Aim: Occasionally, children with COVID-19 may develop arrhythmia, myocarditis, and cardiogenic shock involving multisystemic inflammatory syndrome in children (MIS-C). This study aimed to identify the laboratory parameters that may predict early cardiovascular involvement in these patients., Materials and Methods: Data of 320 pediatric patients, aged 0-18 years (average age, 10.46 ± 5.77 years; 156 female), with positive COVID-19 reverse transcription-polymerase chain reaction test and with cardiac biomarkers at the time of admission to the pediatric emergency department were retrospectively scanned. The age, sex, COVID-19-associated symptoms, pro-brain natriuretic peptide (proBNP), CK-MB, and troponin I levels of the patients were recorded., Results: Fever was noted in 58.1% of the patients, cough in 29.7%, diarrhea in 7.8%, headache in 14.7%, sore throat in 17.8%, weakness in 17.8%, abdominal pain in 5%, loss of taste in 4.1%, loss of smell in 5.3%, nausea in 3.4%, vomiting in 3.8%, nasal discharge in 4.4%, muscle pain in 5%, and loss of appetite in 3.1%. The proBNP value ≥282 ng/L predicted the development of MIS-C with 100% sensitivity and 93% specificity [AUC: 0.985 (0.959-1), P < 0.001]; CK-MB value ≥2.95 with 80% sensitivity and 77.6% specificity [AUC: 0.792 (0.581-1), P = 0.026]; and troponin I value ≥0.03 with 60% sensitivity and 99.2% specificity [AUC: 0.794 (0.524-1)]., Conclusions: Cardiac markers (proBNP and troponin I), especially proBNP, could be used to detect early diagnosis of cardiac involvement and/or MIS-C in pediatric patients with COVID-19 and to predict related morbidity and mortality., Competing Interests: Declaration of Competing Interest The authors declare that they have no conflict of interest., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Purpose: The goal of this study was to better understand vanishing white matter (VWM) disease, which is one of the most common hereditary white matter disorders, and its relationship to radiologic features, genetic analyses, and clinical findings., Methods: We performed a study on 11 patients to describe the clinical and neuroimaging features of VWM. Patients were grouped into "infantile," "early childhood," and "juvenile" based on their onset age. EIF2B1-5 genes encoding five subunits of eukaryotic translation initiation factor 2B (eIF2B) were analyzed in all patients with clinically suspected VWM disease., Results: In brain magnetic resonance imaging (MRI), all patients showed white matter abnormalities with various degrees. The initial clinical presentation in five of patients was ataxia, with severe refractory epilepsy in three patients. In children with infantile-onset VWM, a rapid deterioration of motor function was detected, and the frequency of epilepsy was higher. Two patients showed manifestations of end-stage VWM disease, and one of them had chronic subdural hematoma. One of our patients and his father were diagnosed with Brugada syndrome. Sequencing of the exons and exon-intron boundaries of the EIF2B1-5 genes revealed mutations in the genes EIF2B5 (5 cases), EIF2B3 (3 cases), and EIF2B4 (2 cases). We also found a novel mutation in one patient: c.323&#95;325delGAA in the EIF2B1 gene., Conclusions: In this study, in addition to classical clinical and radiological findings, we wanted to emphasize that we may be confronted with refractory epilepsy (early infancy), cardiac problems, and intracranial complications that may occur in advanced stages.

Objective: Elemental mercury is a toxic liquid element that is used widely in the home, medicine, agriculture, and industry. It is readily vaporized and inhaled at room temperature. Thereby, inhalation can cause acute or chronic poisoning. Mercury can be found in environmental naturally find but some dangers sources give rise to contaminations. It can be very dangerous to all living organisms, especially children., Methods: This study presents the features of mercury poisoning in a group of pediatric cases. Data were obtained for 29 pediatric cases exposed to elemental mercury in a high school chemistry laboratory in Turkey. Patients with a blood mercury level exceeding 10 μg/L or a urine mercury level exceeding 15 μg/L were considered to have mercury poisoning. The patients were treated with 2,3-dimercaptopropane sulfonic acid or D-penicillamine., Results: Twenty-nine children with mercury poisoning were admitted to the hospital. The median duration of exposure was 58 (range, 15-120) minutes. Ten (29%) children were asymptomatic. Physical and neurological examinations were normal in 19 (65.5%) children. The most common presenting complaint was headache. The most common neurological abnormality, partly dilated/dilated pupils, was present in 9 (31%) children. Mercury levels were measured in blood samples every 5 days, and the median blood mercury level was 51.98 (range, 24.9-86.4) μg/L. There was a positive correlation between the duration of exposure and maximum blood/urine mercury levels (P = 0.001)., Conclusions: Elemental mercury exposure is potentially toxic; its symptomatology varies, especially in children. Secure storage of mercury and other toxic substances and provision of information about this subject to individuals who might be exposed to mercury and their families might help to prevent mercury poisoning.

Objectives: The aim of this study was to investigate the clinical and laboratory findings of patients followed up with a diagnosis of Duchenne muscular dystrophy (DMD)., Methods: This retrospective study included 15 boys diagnosed with muscular dystrophy at the Pediatric Neurology Department between July 2008 and July 2016. The presenting symptoms; level of aspartate aminotransferase (AST), alanine aminotransferase (ALT), and creatine kinase (CK); ophthalmological findings; echocardiography (ECHO) results; findings on brain magnetic resonance imaging (MRI); genetic analysis results; and muscular biopsy findings were evaluated., Results: The mean age of the patients was 5.2±2.3 years (range: 11 months-8 years) and the mean age at the onset of DMD was 4.1±2.2 years (range: 10 months-6 years). The ALT level ranged between 67 and 527 IU/L, the AST between 44 and 455 IU/L, and the CK between 931 and 19,595 IU/L. The genetic analysis determined deletions in 12 (80%) and duplications in 2 (13%) patients., Conclusion: Parents with a DMD-affected child should be provided with genetic counseling in order to make decisions about future pregnancies., Competing Interests: Conflict of Interest: There are no known conflicts of interest associated with this publication and there has been no significant financial support for this work that could have influenced its outcome., (Copyright: © 2018 by The Medical Bulletin of Sisli Etfal Hospital.)

Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual impairment, and premature death. Based on the country of origin of the patients, the clinical features/courses, and the molecular genetics background of the disorder, 14 distinct NCL subtypes have been described to date. CLN8 mutation was first identified in Finnish patients, and the condition was named Northern Epilepsy (NE); however, the severe phenotype of the CLN8 gene was subsequently found outside Finland and named 'variant late-infantile' NCL. In this study, five patients and their six healthy relatives from a large Turkish consanguineous family were enrolled. The study involved detailed clinical, radiological and molecular genetic evaluations. Whole-exome sequencing and homozygosity mapping revealed a novel homozygous CLN8 mutation, c.677T>C (p.Leu226Pro). We defined NE cases in Turkey, caused by a novel mutation in CLN8. WES can be an important diagnostic method in rare cases with atypical courses.

Mitochondrial glutamyl-tRNA synthetase is a major component of protein biosynthesis that loads tRNAs with cognate amino acids. Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we present a case of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) presenting a biphasic clinical course characterized by delayed psychomotor development and seizure. High-throughput sequencing revealed a novel compound heterozygous mutation in mitochondrial glutamyl-tRNA synthetase 2 (EARS2), which appears to be causative of disease symptoms., (Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2)-related mitochondrial DNA depletion syndrome is caused by mutations affecting the ADP-using isoform of the beta subunit in succinyl-CoA synthase, which is involved in the Krebs cycle. The SUCLA2 protein is found mostly in heart, skeletal muscle, and brain tissues. SUCLA2 mutations result in a mitochondrial disorder that manifests as deafness, lesions in the basal ganglia, and encephalomyopathy accompanied by dystonia. Such mutations are generally associated with mildly increased plasma methylmalonic acid, increased plasma lactate, elevated plasma carnitine esters, and the presence of methylmalonic acid in urine. In this case report, we describe a new mutation in a patient with a succinyl-CoA synthase deficiency caused by an SUCLA2 defect., (© 2016 Japan Pediatric Society.)

Headache is one of the common symptoms of intracranial aneursym. A 5-year-old child lately presented to our pediatric emergency department with persistent headache. Brain magnetic resonance imaging revealed a 7×8 mm rounded lesion with slowly heterogeneous low signal in T2 sequence consistent with a partial occluded aneurysm, in the right medial frontal lobe that close to anterior cerebral artery. Intracranial aneurysms are rare in children and they are noncommon without complications as our case., (© The Author(s) 2014.)

A 12-month old boy presented with intractable seizures present since 3-month of age. He had, previously, been admitted numerous times to the pediatric emergency room for intractable and prolonged seizures during the course of his disease. Differential diagnosis was made to exclude several inborn metabolic disorders, including vitamin B6 deficiency, biotinidase deficiency and nonketotic hyperglycinemia. Although the initial brain MRI revealed a mild cerebral and cerebellar white matter involvement, follow-up images showed diffuse cerebral and cerebellar white matter dysmyelination, progressive rarefaction and cystic degeneration. A genetic analysis was performed for vanishing white matter (VWM) disease and a homozygote c. 1091G>A mutation was detected at the EIF2B4 gene. This case emphasizes the fact that VWM disease may present with refractory seizures since early infancy.

Cobalamin C (Cbl C) disease is an inborn error of intracellular cobalamin metabolism. Two distinct clinical types are defined according to the age of onset. We describe an 8 year old girl with late-onset Cbl C disease presenting with neuropsychiatric symptoms. Mutation analysis revealed homozygous c.394C>T (p.R132X) mutation in the MMACHC gene. Serial magnetic resonance imaging (MRI) before and after the treatment are provided. MRI of the brain before treatment showed bilateral patchy focal hyperintensities in the white matter and cortical atrophy. After treatment with intramuscular hydroxycobalamin, oral folinic acid, oral betaine, normalization of MRI findings can be achieved in addition to clinical improvement. We present this case to draw attention to the reversibility of clinical and MRI findings in the late onset Cbl C disease after treatment.

The Rett syndrome (RTT; OMIM #312750) is a rare genetic disease observed predominantly among girls that affects neurological development. The incidence of this disorder is approximately 1 in 10,000 female births. Diagnosis of the RTT is based on specific clinical criteria and the identification of a mutation in the methyl-CpG-binding protein (MECP), which mainly occurs on exons 3 and 4 of the gene. Mutations in the X-linked methyl-CpG binding protein 2 gene (MECP2) are observed in nearly 95% of RTT cases. RTT is associated with considerable genotypic and phenotypic heterogeneity. Recently, it has been observed that mutations in the genes Netrin G1 and cyclin-dependent kinase like 5 (CDKL5) also lead to clinical pictures resembling RTT. In this case report, we describe a 4-years-old female patient who met all the relevant criteria for the diagnosis of RTT. Sequence analyses performed on the patient identified a de novo, heterozygous c.489G>A mutation at exon 4 of the MECP2 gene.

Exome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin. Mitotic spindle formation is defective in patient-derived fibroblasts, a consequence of disrupted interactions of mutant KATNB1 with KATNA1, the catalytic subunit of Katanin, and other microtubule-associated proteins. Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. In the developing Drosophila optic lobe, kat80 loss specifically affects the asymmetrically dividing neuroblasts, which display supernumerary centrosomes and spindle abnormalities during mitosis, leading to cell cycle progression delays and reduced cell numbers. Furthermore, kat80 depletion results in dendritic arborization defects in sensory and motor neurons, affecting neural architecture. Taken together, we provide insight into the mechanisms by which KATNB1 mutations cause human cerebral cortical malformations, demonstrating its fundamental role during brain development., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Elemental mercury exposure occurs frequently and is potentially a toxic, particularly in children. Children are often attracted to elemental mercury because of its color, density, and tendency to form beads. Clinical manifestations of elemental mercury intoxication vary depending on its form, concentration, route of ingestion, and the duration of exposure. We present data on 179 pediatric cases of elemental mercury poisoning from exposure to mercury in schools in two different provinces of Turkey. Of all patients, 160 children had both touched/played with the mercury and inhaled its vapors, while 26 children had only inhaled the mercury vapor, two children reported having tasted the mercury. The median duration of exposure was 5 min (min 1-max 100), and 11 (6 %) children were exposed to the mercury for more than 24 h at home. More than half of the children (51.9 %) were asymptomatic at admission. Headache was the most common presenting complaint. The results of physical and neurological examinations were normal in 80 (44.6 %) children. Mid-dilated/dilated pupils were the most common neurological abnormality, and this sign was present in 90 (50.2 %) children. Mercury levels were measured in 24-h urine samples daily, and it was shown that the median urinary level of mercury was 29.80 μg/L (min, 2.40 μg/L; max, 4,687 μg/L). A positive correlation was also found between the duration of exposure and urinary mercury levels (r = 0.23, p = 0.001). All patients were followed up for 6 months. On the first follow-up visit performed 1 month after discharge, the neurological examinations of all patients were normal except for those patients with peripheral neuropathy and visual field defects. On the last follow-up visit at the sixth month, only two children still experienced visual field defects. In conclusion, this study is one of the largest case series of mercury intoxication of students in schools. Elemental mercury exposure can be potentially toxic, and its symptomatology is variable, particularly in children. Therefore, school staff and children should be aware of the risk of mercury toxicity. Pediatricians also need to warn parents and children about the hazards of playing with any chemical.