Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.

Retracted: Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort.

Aycan Ünalp, Yiğithan Güzin, Bülent Ünay, Ayşe Tosun, Dilek Çavuşoğlu, Hande Gazeteci Tekin, Semra Hız Kurul, Ebru Arhan, Selvinaz Edizer, Gülten Öztürk, Uluç Yiş, Ünsal Yılmaz, Turkish Rare Epilepsies Study Group, Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort, Epileptic Disorders, 2023, (https://doi.org/10.1002/epd2.

Association Between Vitamin D Levels and COVID-19 Infection in Children: A Case-Control Study.

Objective: Coronavirus disease 2019 (COVID-19) infection is seen in all age groups, and its symptoms are very variable. The course of the disease can be asymptomatic or mortal. In pediatric patients, vitamin D is thought to be protective against (COVID-19) with its immunomodulator, antiviral, anti-inflammatory, and epithelial integrity properties.

The significance of MUAC z-scores in diagnosing pediatric malnutrition: A scoping review with special emphasis on neurologically disabled children.

This review by a panel of pediatric gastroenterology-hepatology-nutrition and pediatric neurology experts aimed to address the significance of mid-upper arm circumference (MUAC) assessment in diagnosis of pediatric malnutrition. Specifically, the potential utility of recently developed MUAC z-score tape in clinical practice for larger patient populations was addressed including the neurologically disabled children. In accordance with the evidence-based data, four statements were identified by the participating experts on the utility of MUAC z-score tape, including (1) MUAC z-scores correlate with body mass index (BMI) and weight for height/length (WFH/l) z-scores in diagnosing malnutrition; (2) MUAC -score tape offers a higher sensitivity to diagnose the mild and moderate malnutrition and better ability to track the changes in nutritional status over time than the other single datapoint measurements; (3) Using single-step MUAC -score tape in children with cerebral palsy (CP) seems to provide more reliable data on anthropometry; and (4) The clinical value of the tool in classifying secondary malnutrition in CP should be investigated in large-scale populations.

Valproic acid-induced DRESS in a child responding to cyclosporine with HLA analysis.

Drug reaction with eosinophilia and systemic symptoms (DRESS), also known as drug-induced hypersensitivity syndrome, is a potentially life-threatening rare reaction that causes a severe rash and can lead to multiorgan failure. As in other severe drug eruptions, drug-specific T lymphocytes play a crucial role in DRESS. The hapten/pro-hapten model, pharmacological interaction model, and altered peptide repertoire model are three different models developed to describe the relationship/interaction between a medication or its metabolites and the immune system.

The impact of initial hematocrit values after birth on peri-/intraventricular hemorrhage in extremely low birth weight neonates.

Aim: Peri-/intaventricular hemorrhage (P/IVH) is a common condition in preterm neonates and is responsible for substantial adverse neurological outcome especially in extremely low birth weight infants. As hematocrit after birth is a surrogate marker for blood volume, this study aimed to evaluate the effect of initial hematocrit values after birth on P/IVH development in extreme low birth weight (ELBW) neonates.

Patients And Methods: A prospective cohort analysis of 92 eligible ELBW neonates was performed.

Evaluation of micronutrient levels in children with cerebral palsy.

Background: Many studies evaluating the nutritional status of children with cerebral palsy (CP) have focused on energy requirements and protein intake. The present work aimed to assess nutritional status and micronutrient levels of children with (CP).

Methods: This multicenter, cross-sectional and observational study was conducted in 10 different cities in Turkey.

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome.

Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the gene, whereas KS 2 is an X-linked disorder caused by mutations in the gene. In the majority of KS patients who present with hypoglycemia, is the defective gene.

Type 4 hypersensitivity development in a case due to mifamurtide.

Background: This report aims to discuss the mechanism of pleural and pericardial effusion related to mifamurtide which is an immunological agent used as adjuvant chemotherapy in osteosarcoma.

Case: Mifamurtide (2 mg/m < sup > 2 < /sup > ) and European and American Osteosarcoma Studies (EURAMOS) protocol were used together intravenously after complete surgical resection. No side effects occurred except for fever after the first dose.

Posterior Reversible Encephalopathy Syndrome in a Normotensive Child after Allogeneic Hematopoietic Stem Cell Transplantation.

Posterior reversible encephalopathy syndrome (PRES) is an uncommon clinicoradiological syndrome that is characterized by acute neurological symptoms such as headache, convulsion, visual disturbance, and altered consciousness. The characteristic magnetic resonance (MR) finding is vasogenic edema, predominantly in the subcortical areas of the posterior parietal and occipital lobes on T2-weighted and fluid-attenuated inversion recovery (FLAIR) sequences. Herein, we described a rare case of PRES induced by cyclosporine (CsA) after an allogeneic hematopoietic stem cell transplantation (HSCT) from a sibling donor.

Latencies to first interictal epileptiform discharges in different seizure types during video-EEG monitoring.

Purpose: Interictal epileptiform discharges (IEDs) have high diagnostic value concerning patients with epilepsy and the instances of obtaining IEDs increase with longer recording times. However, the merit of a single, extended electroencephalography (EEG) recording in detecting IEDs has not been substantiated. We aimed to determine the optimal duration of an EEG required to diagnose epilepsy in different seizure types.

Relation of insulin resistance to neurocognitive function and electroencephalography in obese children.

Background: Childhood obesity may lead to neuronal impairment in both the peripheral and the central nervous system. This study aimed to investigate the impact of obesity and insulin resistance (IR) on the central nervous system and neurocognitive functions in children.

Methods: Seventy-three obese children (38 male and 35 female) and 42 healthy children (21 male and 21 female) were recruited.

Association of nerve conduction impairment and insulin resistance in children with obesity.

Aim: The objective of our study was to investigate nerve conduction in normoglycemic obese children.

Methods: A total of 60 children with obesity (30 female and 30 male) and 30 healthy children (15 female and 15 male) were enrolled in the study. Insulin resistance (IR) and other metabolic disturbances were investigated and nerve conduction was measured in all participants.

Cardiac troponin-I, brain natriuretic peptide and endothelin-1 levels in a rat model of doxorubicin-induced cardiac injury.

Background: Cardiotoxicity, during or after therapy, is the most serious side effect of doxorubicin (DXR). The risk of developing cardiac impairment increases concomitantly with an increase in the cumulative dose of DXR.

Aim: The aim was to evaluate the levels of cardiac troponin-I (cTnI), brain natriuretic peptide (BNP) and endothelin-1 (ET-1) in DXR induced cardiac injury.

Evaluation of Plasma Melatonin Levels in Children With Afebrile and Febrile Seizures.

Background: Melatonin modulates central nervous system neuronal activity. We compared the melatonin levels of patients with febrile and afebrile seizures during and after seizure with those of healthy controls.

Methods: We enrolled 59 individuals with afebrile and febrile seizures (mean age, 6.

Visual and brainstem auditory evoked potentials in children with obesity.

Aims: The aim of our study is to investigate alterations in visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) in children with obesity.

Methods: A total of 96 children, with a mean age of 12.1±2.

Breath-holding spells may be associated with maturational delay in myelination of brain stem.

Purpose: To evaluate possible contribution of maturational delay of brain stem in the etiology of breath-holding spells in children using brain stem auditory evoked potentials.

Methods: The study group included children who experienced breath-holding spells. The control group consisted of healthy age- and sex-matched children.

Acquired epileptiform opercular syndrome: F-18 fluorodeoxyglucose positron emission tomography (FDG-PET) findings and efficacy of levetiracetam therapy.

We report a five-year-old girl presenting with dysphagia, dysarthria, drooling, and generalized tonic convulsions in whom the final diagnosis was acquired epileptiform opercular syndrome. Levetiracetam monotherapy at a dosage of 40 mg/kg/day improved the clinical findings, and seizures were controlled at the end of the first month of treatment. Six months after the initial diagnosis, she presented with speech deterioration and dysarthria.

Ring chromosome 21 in the differential diagnosis of waddling gait.

Ring chromosome 21 syndrome is a rare clinical condition. Most of the patients have a recognizable phenotype and multisystem involvement is described. Structural neurologic anomalies have also been described, but waddling gait due to lower motor neuron involvement has not been previously reported in association with ring 21.

Osteopenia in children with cerebral palsy can be treated with oral alendronate.

Purpose: Cerebral palsy is one of the most common reasons of osteopenia in childhood. Patients have a significantly decreased bone mineral density, and painful fractures with minor traumas are common. Biphosphonates in the treatment of childhood osteoporosis are increasingly being used.