Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of neurological conditions. Lissencephaly ('smooth brain') spectrum disorders comprise a group of rare, genetically heterogeneous congenital brain malformations commonly associated with epilepsy and intellectual disability.

Salient magnetic resonance imaging findings in the differential diagnosis of benign, borderline and malignant ovarian mucinous tumors.

Purpose: In mucinous ovarian tumors, preoperative prediction of histological subgroup is important for treatment approach. Therefore, we aimed to determine salient magnetic resonance imaging (MRI) findings and estimate optimal cut off values for quantitative features in differential diagnosis of benign, borderline and malignant mucinous ovarian tumors.

Methods: Between January 2011 and December 2021, preoperative MRI scans of 50 patients with mucinous ovarian tumors (n = 54) were evaluated retrospectively.

Evaluation of Ophthalmic Artery Doppler Parameters in Preeclamptic and Normotensive Pregnant Women.

Objective:  Preeclampsia, whose pathophysiology is still not fully elucidated today, is a pregnancy-specific disease that affects most organ systems in pregnant women, including the central nervous system. In this context, we aimed to investigate the effects of preeclampsia on blood flow in the ophthalmic artery of the eye, which is considered a part of the central nervous system.

Materials And Methods:  This prospective, non-interventional cohort study was conducted between February 2022 and June 2022 at Umraniye Training and Research Hospital, Department of Obstetrics and Gynecology, Istanbul, Turkey.

Are the seizures under control or unnoticed? Electroclinical evaluation of epilepsy with eyelid myoclonia.

Purpose: In this study, patients with epilepsy with eyelid myoclonia (E-EM) were evaluated according to their EEG findings, seizure outcomes, and their consistency with the final ictal EEG findings. We also investigated the possible prognostic factors.

Methods: Patients with E-EM and at least two years of follow-up in our clinic were included in the study.

A Novel Homozygous Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.

Introduction: Acyl-CoA binding domain containing 5 (ACBD5) deficiency is a newly defined inborn peroxisomal disorder with only 7 patients reported to date. Herein, we report a patient with ACBD5 deficiency who was diagnosed after a complicated diagnostic process.

Case Presentation: A 6-year-old male patient was admitted with complaints of neuromotor regression and visual disturbances.

Serum Levels of Neuropeptides in Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep.

Background: Epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) is a syndrome of childhood, characterized by diffuse or generalized spike-wave activity in electroencephalography during non-rapid eye movement sleep. Neuropeptides have been demonstrated in several studies to function in the sleep-wake cycle and display convulsant and anticonvulsant features. In this study, we aimed to investigate the relationship between EE-SWAS and neuropeptides such as dynorphin, galanin, ghrelin, leptin, melatonin, and orexin.

Smooth muscle tumor of uncertain malignant potential (STUMP): a case-based analysis.

Objectives: The present study aimed to analyze of uterine smooth muscle tumors of uncertain malignant potential (STUMP) and the outcomes of patients with STUMP.

Material And Methods: In this retrospective study, the data of patients diagnosed with STUMP in a single tertiary center between January 2005-January 2020 were reviewed. We assessed the demographic variables, treatment outcomes, time until recurrence, disease-free and overall survival of the patients.

The seizures that wake up with the patient: The effect of sleep deprivation and short sleep on epilepsy with eyelid myoclonia.

Objective: In this study, our aim was to demonstrate the effect of sleep deprivation, short sleep, and awakening on photoparoxysmal responses (PPR) and eyelid myoclonia (EM) in patients with Epilepsy with Eyelid Myoclonia (E-EM).

Methods: E-EM patients with at least 1 year of follow-up in our clinic were included in the study. Video EEG(v-EEG) analyses were divided into three periods of wakefulness, sleep, and awakening.

Ocrelizumab in pediatric multiple sclerosis.

Background: Ocrelizumab is a recombinant humanized anti-CD20 monoclonal IgG1, approved by FDA and EMA for adult patients with multiple sclerosis (MS). The data on the efficacy and safety of Ocrelizumab for pediatric MS cases are limited.

Objective: Here, we describe pediatric relapsing-remitting MS (P-RRMS) cases who were treated with Ocrelizumab as a disease-modifying drug.

Analysis of determinants of treatment change in adult paediatric-onset MS patients.

Background: Paediatric-onset multiple sclerosis (POMS) is increasing worldwide and represents approximately 5% of all MS cases. Although this patient group has similar characteristics to the adult group, it is important for this patient group to receive effective treatment due to the early onset of cognitive involvement, higher lesion burden, and secondary progression at an earlier age than adults. In this study, we aimed to evaluate the factors that cause treatment change in POMS patients.

Effect of curing regime on the immobilization of municipal solid waste incineration fly ash in sustainable cement mortar.

Stabilizing/solidificating municipal solid waste incineration fly ash (MIFA) with cement is a common strategy, and it is critical to study the high-value utilization of MIFA in ordinary Portland cement (OPC) components. With this aim, binary-binding-system mortar was produced by partially replacing OPC (∼50%) with MIFA, and the effects of different curing regimes (steam curing and carbonation curing) on the properties of the cement mortar were studied. The results showed that the setting time of the cement paste was shorten with the increase of MIFA content, and steam curing accelerated the hardening of the mixture.

ADCY5 gene mutation: a case report.

Background: ADCY5 mutation is a clinical condition that has been described in limited numbers in the literature, causing hyperkinetic movement disorder, and may be sporadic or familial.

Patient Description: This report looks at the involuntary movements that started early in life in a 5-year-old girl.

Results: Patient's electroensephalogram and cranial magnetic resonance imaging were normal.

Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome.

Objective: To describe the clinical presentation and long-term clinical features of a molecularly confirmed cohort with Cohen syndrome.

Study Design: Twelve patients with Cohen syndrome aged 0.2-13.

Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM.

Objective: The study aimed to show the clinical characteristics and prognosis of the L1 syndrome in patients with L1CAM mutations in the extracellular region.

Materials And Methods: Three affected boys and their siblings and parents from a large family were included in this study. Genetic etiology was investigated by whole-exome sequencing in the index patient.

Is there still a necessity for awareness and information about HPV infection and vaccine for adolescent in developing countries?

Increasing awareness of human papilloma virus (HPV) and vaccines among the target population is an important factor for decreasing the rate of malignancies related to HPV. The aim of this cross-sectional study was to determine Turkish high school and college students' knowledge level of HPV and vaccines via a survey. The HPV knowledge scale (HPV-KS) has been developed to measure the level of knowledge about HPV and vaccination.

Recycling coral waste into eco-friendly UHPC: Mechanical strength, microstructure, and environmental benefits.

On islands far away from the mainland, the raw materials for concrete production are often more difficult to obtain. Converting the coral waste generated during the island construction process into a marine ultra-high performance concrete (UHPC) mixture is an eco-friendly strategy. Coral powder (CP) is used to partially replace cement and silica fume (SF), and its mechanical strength, microstructure and environmental benefits are evaluated.

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.

Heterozygous mutations in Bicaudal D2 Drosophila homolog 2 (BICD2) gene, encodes a vesicle transport protein involved in dynein-mediated movement along microtubules, are responsible for an exceedingly rare autosomal dominant spinal muscular atrophy type 2A which starts in the childhood and predominantly effects lower extremities. Recently, a more severe form, type 2B, has also been described. Here, we present a patient born to a consanguineous union and who suffered from intellectual disability, speech delay, epilepsy, happy facial expression, truncal obesity with tappering fingers, and joint hypermobility.

Electrical status epilepticus in sleep: The role of thalamus in etiopathogenesis.

Purpose: In patients diagnosed with epilepsy, decreased ratio of N-acetyl aspartate to creatine (NAA/Cr) measured in magnetic resonance spectroscopy (MRS) has been accepted as a sign of neuronal cell loss or dysfunction. In this study, we aimed to determine whether a similar neuronal cell loss is present in a group of encephalopathy with electrical status epilepticus in sleep (ESES) patients METHODS: We performed this case-control study at a tertiary pediatric neurology center with patients with ESES. Inclusion criteria for the patient group were as follows: 1) a spike-wave index of at least 50%, 2) acquired neuropsychological regression, 3) normal cranial MRI.

COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1.

Objectives: The impact of coronavirus disease-19 (COVID-19) on metabolic outcome in patients with inborn errors of metabolism has rarely been discussed. Herein, we report a case with an acute encephalopathic crisis at the course of COVID-19 disease as the first sign of glutaric aciduria type 1 (GA-1).

Case Presentation: A 9-month-old patient was admitted with encephalopathy and acute loss of acquired motor skills during the course of COVID-19 disease.

mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy.

To date, less than 10 pedigrees have been reported with mutations since it was discovered in 2012 and little is known about ZNF335-related clinical spectrum. We describe a 12 years old male patient who is only child of nonconsanguineous Turkish parents. Trio whole genome sequencing identified previously unreported compound heterozygous variants in , namely, c.