Presence of Auditory Pathway Abnormalities in Children With Neurofibromatosis Type 1 With Brainstem Focal Areas of Abnormal Signal Intensity: Diffusion Tensor Imaging Features.

To investigate whether there is a difference in mean diffusivity (MD) and fractional anisotropy (FA) values in the auditory pathways of neurofibromatosis type 1 patients with and without focal areas of abnormal signal intensity (FASI) compared to healthy controls by using diffusion tensor imaging (DTI). Patients were classified as group 1 with focal areas of abnormal signal intensity in the brainstem, group 2 without focal areas of abnormal signal intensity, and healthy control group 3 according to the MRI findings. Mean diffusivity and fractional anisotropy values of lateral lemniscus, inferior colliculus, corpus geniculatum mediale, Heschl gyrus, and brainstem were compared between groups.

Importance of Thalamostriatal Pathway Associated With Neurocognitive Dysfunctions in Children With Neurofibromatosis Type 1: Diffusion Tensor Imaging Findings.

Objective: To determine whether there is a difference between healthy control group and children with neurofibromatosis type 1 (NF1) in terms of apparent diffusion coefficient (ADC) and fractional anisotropy (FA) values in different regions of the brain associated with neurocognitive functions and to investigate the correlation between diffusion tensor imaging parameters and neurocognitive dysfunctions.

Methods: The study included 28 children with NF1 and 21 controls. Nine distinct areas related to cognitive functions were selected for the analysis.

A Snapshot of Pediatric Patients with COVID-19 in a Pandemic Hospital.

Aim: Reports describing coronavirus disease 2019 (Covid-19) in children are fewer than adult studies due to milder clinical picture. We aimed to share our experience at a single center with an emphasis on collective decision making.

Materials And Methods: A suspected case was defined as the presence of symptoms suggestive of COVID-19 and/or positive contact history.

Development of Antiarrhythmic Therapy-Resistant Ventricular Tachycardia, Ventricular Fibrillation, and Premature Ventricular Contractions in a 15-Year-Old Patient.

Sudden cardiac arrest (SCA) is the sudden cessation of regular cardiac activity so that the victim becomes unresponsive, with no signs of circulation and no normal breathing. Asystole, ventricular tachycardia (VT), ventricular fibrillation (VF), and pulseless electrical activity are the underlying rhythm disturbances in the pediatric age group. If appropriate interventions (cardiopulmonary resuscitation-CPR and/or defibrillation or cardioversion) are not performed rapidly, this condition progresses to sudden death.

Pontine Tegmentum Lesions Accompanying Myelitis During an Enterovirus Outbreak: Differential Diagnosis and Outcome.

Aim: To investigate etiology and prognostic significance of pontine tegmentum lesions accompanying a cluster of acute flaccid myelitis.

Method: We retrospectively examined patients from 6 centers in Turkey who manifested encephalitis or myelitis associated with dorsal pontine lesions on magnetic resonance imaging (MRI) between July 2018 and February 2019.

Results: Twenty-two patients were evaluated.

Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.

Biallelic mutations in the gene are responsible for early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS). To date, three different allelic variants have been reported. Next-generation sequencing allowed discovery of unique alternations in this gene with different phenotypes.

The acute effects of physiotherapy on general movement patterns in preterm infants: A single-blind study.

Background: The General Movement Assessment (GMA) is a video analysis method developed by Heinz Prechtl that examines the infant's spontaneous movements. In recent years, although many studies have been performed in preterm infants by applying GMA, few studies have shown the effects of early intervention on GMA.

Aims: Current study was planned to determine the acute effects of a single-session early physiotherapy approach on preterm infants' general spontaneous movements, and to reveal the change in Motor Optimality Scale (MOS) score including FMs.

Oxidant and antioxidant levels and DNA damage in tuberous sclerosis.

Objective: The pathogenesis of inherited diseases is thought to involve oxidative stress and the associated DNA damage, which are also implicated in many other conditions including cancer. Tuberous sclerosis is a genetic disease with autosomal dominant inheritance pattern that is characterized by the development of hamartomas in multiple organ systems. Oxidative stress and the related DNA damage are also likely to play a significant role in the pathogenesis of this condition.

Onychomadesis: A rare adverse effect in early-period valproic acid therapy.

Valproic acid is an effective, frequently used anticonvulsant drug. Typical adverse effects include weight gain, hair loss, and nausea. Hyperpigmentation, onycholysis, and onychomadesis are nail changes that can be seen after valproic acid use.

The impact of epilepsy on preschool children and their families.

This study investigated the possible presence of sensory-motor developmental impairments in preschool children with epilepsy and explored epilepsy impact on their activities and quality of life and on the stress load of their family. Study participants were children aged 2-6years diagnosed with epilepsy without any other comorbidities (epi-only children). The instruments used for assessment included the Neurological, Sensory, Motor, Developmental Assessment (NSMDA) scale for sensory-motor development, the Impact of Childhood Neurologic Disability Scale (ICNDS), and the Impact of Pediatric Epilepsy Scale (IPES) for disease impact on disability and Quality of Life (QoL), as well as the Pediatric Outcomes Data Collection Instrument (PODCI) for functional health status, and the Parental Stress Scale (PSS) for the family stress load.

Visual and brainstem auditory evoked potentials in infants with severe vitamin B12 deficiency.

Background/aim: Vitamin B12 plays an important role in the development of mental, motor, cognitive, and social functions via its role in DNA synthesis and nerve myelination. Its deficiency in infants might cause neuromotor retardation as well as megaloblastic anemia. The objective of this study was to investigate the effects of infantile vitamin B12 deficiency on evoked brain potentials and determine whether improvement could be obtained with vitamin B12 replacement at appropriate dosages.

Clinical Significance of Human Metapneumovirus in Refractory Status Epilepticus and Encephalitis: Case Report and Review of the Literature.

Encephalitis is a complex neurological disease that is associated with significant morbidity and mortality, and the etiology of the disease is often not identified. Human metapneumovirus (hMPV) is a common cause of upper and lower respiratory tract infections in children. Few reports are available showing possible involvement of hMPV in development of neurologic complications.

A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family.

A consanguineous family from Turkey having two children with intellectual disability exhibiting myoclonic, febrile and other generalized seizures was recruited to identify the genetic origin of these phenotypes. A combined approach of SNP genotyping and exome sequencing was employed both to screen genes associated with Dravet syndrome and to detect homozygous variants. Analysis of exome data was extended further to identify compound heterozygosity.

MRS features during encephalopathic crisis period in 11 years old case with GA-1.

Glutaric aciduria type-1 (GA-1) is a disorder of amino acid metabolism. The usual clinical-onset is an acute encephalopathic crisis in early childhood. There are only a few cases diagnosed in older age groups.

Prognosis and demographic characteristics of SSPE patients in Istanbul, Turkey.

Aim: SSPE is a rare progressive, invariably fatal long-term complication of measles infection. In this study, we assessed the demographic and prognostic characteristics of 64 consecutive SSPE patients diagnosed at a tertiary center.

Methods: The study had a retrospective design; data were obtained from patient records.

An evaluation of serum paraoxonase together with arylesterase activities and oxidative stress in children with intractable epilepsy: a cross-sectional study.

Epilepsy is the most common chronic neurological illness in childhood and adolescence. The aim of this study was to investigate paraoxonase and arylesterase activities along with oxidative status parameters in children with intractable epilepsy. The study comprised 42 subjects with intractable epilepsy and a control group of 35 healthy subjects.

May TLR4 Asp299Gly and IL17 His161Arg polymorphism be associated with progression of primary measles infection to subacute sclerosing panencephalitis?

SSPE is a progressive neurological disorder of children. Only some of the children who are infected with measles virus develop SSPE, which supports individual variation. TLR-2 and TLR-4 play an important role in innate immunity by recognizing envelope proteins of MV.

Interictal serum S-100B protein levels in intractable epilepsy: a case-control study.

Epilepsy is the most common neurologic disorder of childhood. In approximately 6-14% of all patients with epilepsy, complete seizure control is difficult to achieve with current antiepileptic treatments. Several current studies have shown in both animals and people that the lengthening of epileptic seizures and frequent recurrence increases the likelihood of neuronal damage.

Association of interleukin 18, interleukin 2, and tumor necrosis factor polymorphisms with subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a progressive inflammatory and degenerative disorder of the central nervous system. The measles virus (MV) and host and environmental factors are involved in the development of SSPE, but the precise mechanism by which the MV causes SSPE is still unknown. Studies have indicated that in SSPE patients, specific polymorphisms of certain genes are most likely involved in impairing the host's ability to eradicate the MV.

PD-1 gene polymorphism in children with subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a progressive inflammatory and degenerative disorder of the central nervous system. Several factors influence the risk of chronic brain infection with the mutant measles virus. However, to date, no pathogenic mechanism that may predispose to SSPE has been determined.