Analyzing language ability in first-episode psychosis and their unaffected siblings: A diffusion tensor imaging tract-based spatial statistics analysis study.

Schizophrenia (SZ) is a highly heritable mental disorder, and language dysfunctions play a crucial role in diagnosing it. Although language-related symptoms such as disorganized speech were predicted by the polygenic risk for SZ which emphasized the common genetic liability for the disease, few studies investigated possible white matter integrity abnormalities in the language-related tracts in those at familial high-risk for SZ. Also, their results are not consistent.

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.

Craniocervical junction involvement in inflammatory arthritis: a single-center radiologic study.

Background/aim: Craniocervical junction (CCJ) can be involved in inflammatory arthritis. We aimed to define types of CCJ involvement in rheumatoid arthritis (RA), spondyloarthritis (SpA), and psoriatic arthritis (PsA) and compare them with patients without inflammatory arthritides.

Materials And Methods: In this retrospective analysis, cervical CT or MRIs of patients with RA, SpA, or PsA, taken for any reason between 2010 and 2020, according to ICD-10 codes, were scanned.

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.

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).

Neural correlates of distorted body images in adolescent girls with anorexia nervosa: How is it different from major depressive disorder?

Body image disturbance is closely linked to eating disorders including anorexia nervosa (AN). Distorted body image perception, dissatisfaction and preoccupation with weight and shape are often key factors in the development and maintenance of these disorders. Although the pathophysiological mechanism of body image disorder is not yet fully understood, aberrant biological processes may interfere with perceptive, cognitive and emotional aspects of body image.

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.

Flocculus Herniation into the Internal Acoustic Canal in Incomplete Partition Type I: A Case Report.

In this study, we present the first case with cerebellar herniation into the internal acoustic canal in incomplete partition type I anomaly. Cerebellar herniation into the internal acoustic canal is very rare with only a few cases reported in the literature. Although it is a rare clinical situation, cerebellar herniation into the internal acoustic canal may be seen in patients with incomplete partition type I.

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).

Comparison of early- and late-phase CT angiography findings in brain death.

Background: Late-phase images on computed tomography angiography (CTA), traditionally used for assessing cerebral circulatory arrest in brain death, suffer from suboptimal diagnostic yield due to stasis filling. Herein, we assessed contrast filling in individual intracranial arteries and veins in the early and late phases of CTA in patients with clinically confirmed brain death.

Methods: Contrast opacification within 28 arterial/venous segments was evaluated in both phases of CTA in 79 patients.

The Effects of Respiratory Muscle Training on Resting-State Brain Activity and Thoracic Mobility in Healthy Subjects: A Randomized Controlled Trial.

Background: Although inspiratory muscle training (IMT) is an effective intervention for improving breath perception, brain mechanisms have not been studied yet.

Purpose: To examine the effects of IMT on insula and default mode network (DMN) using resting-state functional MRI (RS-fMRI).

Study Type: Prospective.

SMART syndrome: a case report.

Introduction: Stroke-like migraine attacks after radiation therapy (SMART) syndrome, is a late complication of brain radiotherapy (1). Symptoms are commonly subacute in onset and involve migraine type of headache, seizures, focal neurologic deficits (2). Magnetic resonance imaging (MRI) findings are usually unilateral and posterior predominant cortical-subcortical hyperintensity, swelling and prominent gyriform (cortical and leptomeningeal) gadolinium enhancement in the areas of the brain that underwent irradiation with or without diffusion restriction (1).

Discrimination between non-functioning pituitary adenomas and hypophysitis using machine learning methods based on magnetic resonance imaging‑derived texture features.

Purpose: Hypophysitis is a heterogeneous condition that includes inflammation of the pituitary gland and infundibulum, and it can cause symptoms related to mass effects and hormonal deficiencies. We aimed to evaluate the potential role of machine learning methods in differentiating hypophysitis from non-functioning pituitary adenomas.

Methods: The radiomic parameters obtained from T1A-C images were used.

Lesional resective epilepsy surgery in childhood: Comparison of two decades and long-term seizure outcome from a single center.

Objective: Epilepsy surgery has shown efficacy in children. We aimed to assess long-term seizure outcome in children who underwent epilepsy surgery and determine predictive factors for seizure freedom.

Methods: This is a retrospective study of 196 children who underwent epilepsy surgery between 1994 and 2015 and had a minimum postoperative follow-up of 5 years.

Group-Level Ranking-Based Hubness Analysis of Human Brain Connectome Reveals Significant Interhemispheric Asymmetry and Intraparcel Heterogeneities.

Graph theory applications are commonly used in connectomics research to better understand connectivity architecture and characterize its role in cognition, behavior and disease conditions. One of the numerous open questions in the field is how to represent inter-individual differences with graph theoretical methods to make inferences for the population. Here, we proposed and tested a simple intuitive method that is based on finding the correlation between the rank-ordering of nodes within each connectome with respect to a given metric to quantify the differences/similarities between different connectomes.

A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.

Recessive mutations in the genes encoding the four subunits of the tRNA splicing endonuclease complex (TSEN54, TSEN34, TSEN15, and TSEN2) cause various forms of pontocerebellar hypoplasia, a disorder characterized by hypoplasia of the cerebellum and the pons, microcephaly, dysmorphisms, and other variable clinical features. Here, we report an intronic recessive founder variant in the gene TSEN2 that results in abnormal splicing of the mRNA of this gene, in six individuals from four consanguineous families affected with microcephaly, multiple craniofacial malformations, radiological abnormalities of the central nervous system, and cognitive retardation of variable severity. Remarkably, unlike patients with previously described mutations in the components of the TSEN complex, all the individuals that we report developed atypical hemolytic uremic syndrome (aHUS) with thrombotic microangiopathy, microangiopathic hemolytic anemia, thrombocytopenia, proteinuria, severe hypertension, and end-stage kidney disease (ESKD) early in life.

Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.

ELFN1, a transmembrane leucine rich repeat protein, is involved in signal transduction in both neural cells and ROD ON-bipolar synaptogenesis. We present three siblings with developmental and epileptic encephalopathy and co-morbidities due to ELFN1 gene mutation; this is the first report in literature defining the human phenotype of ELFN1 gene mutation. Clinical, electrophysiological, and radiological findings along with comprehensive genetic studies of the patients and their family members are presented.