Phenotypic diversity in NAXE mutations.

Background/aim: NAD(P)HX epimerase (NAXE) gene mutations have been associated with early onset progressive encephalopathy. We present three patients with NAXE gene mutations and different initial manifestations.

Cases: Patient(P)1 was a 30 month-old boy whose neurological regression started after an infection and progressed, ultimately leading to death one year later.

Knowledge and attitudes of preclinical and clinical medical students toward epilepsy: A cross-sectional study from Turkey.

Objective: The aim of this study is to evaluate the epilepsy-related knowledge and attitudes toward epilepsy in medical students. In addition, these parameters were evaluated according to national geographic regions, preclinical and clinical characteristics.

Methods: This study was a cross-sectional, observational design and it was conducted among medical students in a centrally located city, Turkey.

From attributes to communities: a novel approach in social network generation.

Generating networks with attributes would be useful in computer game development by enabling dynamic social interactions, adaptive storylines, realistic economic systems, ecosystem modelling, urban development, strategic planning, and adaptive learning systems. To this end, we propose the Attribute-based Realistic Community and Associate NEtwork (ARCANE) algorithm to generate node-attributed networks with functional communities. We have designed a numerical node attribute-edge relationship computation system to handle the edge generation phase of our network generator, which is a different method from our predecessors.

Task-dependent functional connectivity changes in response to varying levels of social support.

Background: Having social support improves one's health outcomes and self-esteem, and buffers the negative impact of stressors. Previous studies have explored the association between social support and brain activity, but evidence from task-dependent functional connectivity is still limited.

Aims: We aimed to explore how gradually decreasing levels of social support influence task-dependent functional connectivity across several major neural networks.

The Effect of Aging on Face-Name Recognition: An fMRI Study.

Objective: The aim of this study is to detect functional changes in the brain during the memory task with aging and the association between functional changes and memory performance.

Method: The study consisted of Young Adult Group (YAG, n=20) aged 20 to 25 and Late Adult Group (LAG, n=18) aged 60 to 70. Individuals with Montreal Cognitive Assessment (MoCA) scores above 21 and no family history of Alzheimer's Disease were included in the study.

Molecular Subgrouping Based on Immunohistochemistry in Medulloblastoma: A Single-Center Experience.

Aim: To investigate the efficacy of immunohistochemical methods to determine molecular subgroups and prognostic predictions of medulloblastomas (MBs).

Material And Methods: β-catenin, GAB1, YAP1, filamin A and p53 were immunohistochemically stained, and MYC and MYCN fluorescent in situ hybridization (FISH) procedures were applied to 218 cases in our series.

Results: Based on the histomorphological characteristics of the cases, 67.

Ictal Coprolalia: Three Cases with Nondominat Frontal Lobe Involvement and Review of the Literature.

Coprolalia is defined as the involuntary use of obscene, socially unacceptable, and derogatory words. Ictal coprolalia is a rare presentation of epilepsy. This study aimed to determine the localizing and lateralizing value and frequency of ictal coprolalia in epilepsy patients.

Predictors of Clinically Important Neuroimaging Findings in Children Presenting Pediatric Emergency Department.

Objective: The aim of the study is to evaluate predictors of clinically important neuroimaging results, that is, computed tomography and magnetic resonance imaging in children in an academic pediatric emergency department (PED) from 2015 to 2019.

Methods: This study was conducted in an academic PED. The patient's demographic and clinical characteristics of PED visits and neuroimaging findings requested at the PED were recorded for January 1, 2015, to December 31, 2019.

One model to unite them all: Personalized federated learning of multi-contrast MRI synthesis.

Curation of large, diverse MRI datasets via multi-institutional collaborations can help improve learning of generalizable synthesis models that reliably translate source- onto target-contrast images. To facilitate collaborations, federated learning (FL) adopts decentralized model training while mitigating privacy concerns by avoiding sharing of imaging data. However, conventional FL methods can be impaired by the inherent heterogeneity in the data distribution, with domain shifts evident within and across imaging sites.

The effect of emotional faces on reward-related probability learning in depressed patients.

Background: Existing research indicates that individuals with Major Depressive Disorder (MDD) exhibit a bias toward salient negative stimuli. However, the impact of such biased stimuli on concurrent cognitive and affective processes in individuals with depression remains inadequately understood. This study aimed to investigate the effects of salient environmental stimuli, specifically emotional faces, on reward-associated processes in MDD.

The effectiveness of organic vegetable oils with high biocompatibility in preventing epidural fibrosis: An experimental study.

Background And Purpose: Epidural fibrosis after all spinal surgeries is an important surgical issue. Various biological and non-biological materials have been tried to inhibit epidural fibrosis, which is deemed to be the most important cause of pain after spinal surgery. Olive oil, nigella sativa oil and soybean oil employed in oral nutrition in clinics involving liquid fatty acids, palmatic acid, linoleic acid, stearic acid and palmitoleic acid.

Gradual Loss of Social Group Support during Competition Activates Anterior TPJ and Insula but Deactivates Default Mode Network.

Group forming behaviors are common in many species to overcome environmental challenges. In humans, bonding, trust, group norms, and a shared past increase consolidation of social groups. Being a part of a social group increases resilience to mental stress; conversely, its loss increases vulnerability to depression.

The effect of SARS-CoV-2 virus on resting-state functional connectivity during adolescence: Investigating brain correlates of psychotic-like experiences and SARS-CoV-2 related inflammation response.

We first aimed to investigate resting-state functional connectivity (rs-FC) differences between adolescents exposed to SARS-CoV-2 and healthy controls. Secondly, the moderator effect of PLEs on group differences in rs-FC was examined. Thirdly, brain correlates of inflammation response during acute SARS-CoV-2 infection were investigated.

Parallel-stream fusion of scan-specific and scan-general priors for learning deep MRI reconstruction in low-data regimes.

Magnetic resonance imaging (MRI) is an essential diagnostic tool that suffers from prolonged scan times. Reconstruction methods can alleviate this limitation by recovering clinically usable images from accelerated acquisitions. In particular, learning-based methods promise performance leaps by employing deep neural networks as data-driven priors.

ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia.

Background: A clinical presentation similar to severe combined immunodeficiency (SCID) with defective T cell activation but normal lymphocyte development occurs due to certain molecule defects including ORAI1- and STIM1.

Case: A four-month-old girl sufferd from fever, restlessness, diarrhea, and poor weight gain following the neonatal period. There was consanguinity and a positive family history.

Extracellular-Vesicle-Based Cancer Panels Diagnose Glioblastomas with High Sensitivity and Specificity.

Glioblastoma is one of the most devastating neoplasms of the central nervous system. This study focused on the development of serum extracellular vesicle (EV)-based glioblastoma tumor marker panels that can be used in a clinic to diagnose glioblastomas and to monitor tumor burden, progression, and regression in response to treatment. RNA sequencing studies were performed using RNA isolated from serum EVs from both patients ( = 85) and control donors ( = 31).

IgG4-related pachymeningitis-Long term follow up and outcome of six patients.

Objective: Our understanding of IgG4-RD and pachymeningitis has grown substantially, but the optimal approach for diagnosis, management, and long-term outcomes is still an area of uncertainty.

Methods: HUVAC is a database for IgG4-RD patients, this database was retrospectively evaluated for pachymeningeal disease. Demographic, clinical, serological, imaging, histopathological data, and treatment details were re-interpreted in patients with pachymeningitis.

Rhombencephalitis and longitudinal extensive myelitis associated with dinutuximab use in high-risk neuroblastoma.

Background: Dinutuximab is a monoclonal antibody that targets the GD2 antigen used in the treatment of high-risk neuroblastoma. Dinutuximab-associated rhombencephalitis and myelitis is a rare, steroid-responsive, serious, but reversible pathology. To date, three transverse myelitis cases and one rhombencephalitis case due to dinutuximab have already been reported.

Imaging Cancer in Neuroradiology.

Neuroimaging plays a pivotal role in the diagnosis, management, and prognostication of brain tumors. Recently, the World Health Organization published the fifth edition of the WHO Classification of Tumors of the Central Nervous System (CNS5), which places greater emphasis on tumor genetics and molecular markers to complement the existing histological and immunohistochemical approaches. Recent advances in computational power allowed modern neuro-oncological imaging to move from a strictly morphology-based discipline to advanced neuroimaging techniques with quantifiable tissue characteristics such as tumor cellularity, microstructural organization, hemodynamic, functional, and metabolic features, providing more precise tumor diagnosis and management.

Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in associated with beta-propeller protein-associated neurodegeneration.

Objectives: Beta-propeller protein-associated neurodegeneration (BPAN) is a rare X-linked dominant neurodegenerative disease, which is characterized by iron accumulation in the basal ganglia. BPAN is associated with pathogenic variation in , which has been reported almost exclusively in females most probably due to male lethality in the hemizygous state.

Methods: Whole exome sequencing (WES) and targeted deep sequencing were performed for a male with a clinical diagnosis of BPAN at the age of 37.

The right ventricle systolic force ratio could predict the severity of the tricuspid regurgitation-RIVIERA ratio.

Purpose: For assessing the severity of tricuspid regurgitation (TR), there is no gold standard. We developed a parameter, the right ventricular systolic force ratio-RIVIERA, using the continious wave Doppler analysis of TR and pulsed-wave analysis of the right ventricle outflow tract. We hypothesized that the RIVIERA would facilitate the ability to identify severe TR in clinical settings.

Comparative analysis of freezing of gait in distinct Parkinsonism types by diffusion tensor imaging method and cognitive profiles.

Freezing of gait (FOG) is an episodic gait pattern that is common in advanced Parkinson's disease (PD) and other atypical parkinsonism syndromes. Recently, disturbances in the pedunculopontine nucleus (PPN) and its connections have been suggested to play a critical role in the development of FOG. In this study, we aimed to demonstrate possible disturbances in PPN and its connections by performing the diffusion tensor imaging (DTI) technique.

Clinically important intracranial abnormalities in children presenting with first focal seizure.

Background: Management of pediatric patients presenting with first seizure is challenging, especially with regards to emergent neuroimaging. The rate of abnormal neuroimaging findings is known to be higher in focal seizures than in generalized seizures, but those intracranial abnormalities are not always clinically emergent. In this study, we aimed to determine the rate and indicators for clinically important intracranial abnormalities that change acute management in children presenting with a first focal seizure to the pediatric emergency department (PED).

Claude Syndrome in Childhood Associated with Probable Neuro-Behcet Disease.

Claude syndrome is a rare midbrain stroke syndrome characterized by ipsilateral third cranial nerve palsy and contralateral hemiataxia. So far, only a few cases have been reported in childhood. We present two children with Claude syndrome at 9 and 15 years of age.

Assessment of glymphatic function in narcolepsy using DTI-ALPS index.

Introduction: Sleep is a modulator of glymphatic activity which is altered in various sleep disorders. Narcolepsy is a sleep disorder characterized by excessive daytime sleepiness (EDS), rapid onset of rapid eye movement (REM) sleep, cataplexy, disturbed night sleep with fragmentation. It is categorized into two types, type 1 (NT1) and type 2 (NT2) depending on the presence of cataplexy and/or absence of orexin.