Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

Free sialic acid storage disorder (FSASD) is a rare autosomal recessive lysosomal storage disease caused by pathogenic SLC17A5 variants with variable disease severity. We performed a multidisciplinary evaluation of an adolescent female with suspected lysosomal storage disease and conducted comprehensive studies to uncover the molecular etiology. The proband exhibited intellectual disability, a storage disease gestalt, and mildly elevated urine free sialic acid levels.

Analgesia After Vestibular Schwannoma Surgery in Europe-Potential for Reduction of Postoperative Opioid Usage.

Objective: Excessively prescribed opioids promote chronic drug abuse and worsen a highly prevalent public health problem in the era of the opioid epidemic. This study aimed to (a) determine general analgesic prescription patterns after surgery for vestibular schwannoma (VS) with a focus on opioid prescription rates, (b) identify risk factors for receiving narcotics for postoperative pain management, and (c) highlight the feasibility of opioid-free analgesic treatment strategies.

Study Design: Retrospective chart review.

Alternative lengthening of telomere-based immortalization renders H3G34R -mutant diffuse hemispheric glioma hypersensitive to PARP inhibitor combination regimens.

Background: Diffuse hemispheric glioma, H3G34R/V-mutant (DHG-H3G34) is characterized by poor prognosis and lack of effective treatment options. DHG-H3G34R further harbor deactivation of Alpha-Thalassemia/Mental Retardation Syndrome X-linked protein (ATRX; DHG-H3G34R_ATRX) suggesting a unique interaction of these two oncogenic alterations. In this study, we dissect their cell biological interplay, investigate the impact on telomere stabilization and, consequently, validate a targeted therapy approach.

Predictors of explicit and implicit anthropomorphism in house facades.

Anthropomorphism describes the tendency to endow objects with human characteristics, with some individuals being more inclined to do this than others. In an ambiguous environment, this phenomenon can offer guidance. This study investigates the relationship between self-reported attribution and evoked anthropomorphism when viewing house facades.

Markers of tumor-associated macrophages and microglia exhibit high intratumoral heterogeneity in human glioblastoma tissue.

Background: Human glioblastoma multiforme (GBM) is a highly aggressive tumor with insufficient therapies available. Especially, novel concepts of immune therapies fail due to a complex immunosuppressive microenvironment, high mutational rates, and inter-patient variations. The intratumoral heterogeneity is currently not sufficiently investigated.

Predictors of Surgical Failure in Pediatric Lesional Temporal Lobe Epilepsy Surgery.

Background: Epilepsy surgery can potentially cure pharmacoresistant temporal lobe epilepsy (TLE) in children. However, surgical failures, where patients continue to experience seizures, still exist. We evaluated outcomes in pediatric patients after resective temporal lobe surgery to identify risk factors for failure.

Seizure outcome in surgically treated pediatric gangliogliomas and dysembryoplastic neuroepitheliomas according to imaging and resection strategies.

Purpose: Imaging and resection strategies for pediatric gangliogliomas (GG) and dysembryoplastic neuroepitheliomas (DNET) presenting with epilepsy were retrospectively analyzed in a consecutive institutional series of surgically treated patients.

Methods: Twenty-two children (median 8 years, 3-18 years) presented with seizures for 30 months median (14-55.2 months) due to a histologically verified GG/DNET.

Long-Term Follow-Up After Translabyrinthine IAC Tumor Removal With Simultaneous Cochlear Implantation.

Objective: To evaluate the long-term hearing outcome after translabyrinthine resection of tumors within the internal auditory canal (IAC) with simultaneous cochlear implantation (CI).

Study Design: Prospective study.

Setting: Tertiary referral center.

isolated from the Berkeley Pit, Butte, MT, is a metal-specific extremophile.

A yeast-like extremophile organism, , has been isolated from the superfund site the Berkeley Pit Lake in Butte, Montana. Studies demonstrate growth in some of the known Berkeley Pit Lake solutes. Microbial growth dynamics under controlled conditions were compared of for multiple metal concentrations.

Feasibility, tolerability, and first experience of intracystic treatment with peginterferon alfa-2a in patients with cystic craniopharyngioma.

Background: Children with craniopharyngiomas (CPs) typically suffer from a life-long chronic disease. The younger the child, the more vulnerable the maturing brain is to invasive therapies such as surgery or radiotherapy. Therefore, treatment modalities facilitating avoidance or delay of invasive therapies are beneficial for these patients.

A navigated, robot-driven laser craniotomy tool for frameless depth electrode implantation. An recovery animal study.

We recently introduced a frameless, navigated, robot-driven laser tool for depth electrode implantation as an alternative to frame-based procedures. This method has only been used in cadaver and non-recovery studies. This is the first study to test the robot-driven laser tool in an recovery animal study.

Negative Acts in the Courtroom: Characteristics, Distribution, and Frequency among a National Cohort of Danish Prosecutors.

Danish prosecutors report exposure to negative acts from professional counterparts in courtrooms, which is associated with an increased risk of burnout. However, knowledge of the characteristics of these acts is limited. Based on existing theoretical frameworks, this study aims to characterize these negative acts.

Self-Perceived Interpersonal Problems Among Long-Term Unemployed Individuals, and Vocational Rehabilitation Programs (In)ability to Change Them.

Objective: Self-perceived interpersonal problems can challenge one's access to the work market, making it harder to attain and keep a job while adding to the distress of being outside of the labor market.

Methods: In this study, we compared the self-perceived interpersonal problems among long-term unemployed individuals taking part in vocational rehabilitation programs (VRPs) (N = 220) with those of the general population. In addition, we examined whether their self-perceived interpersonal problems changed while taking part in the VRPs.

Current state of the art of traditional and minimal invasive epilepsy surgery approaches.

Introduction: Open resective surgery remains the main treatment modality for refractory epilepsy, but is often considered a last resort option due to its invasiveness.

Research Question: This manuscript aims to provide an overview on traditional as well as minimally invasive surgical approaches in modern state of the art epilepsy surgery.

Materials And Methods: This narrative review addresses both historical and contemporary as well as minimal invasive surgical approaches in epilepsy surgery.

Concordance between an FDA-approved companion diagnostic and an alternative assay kit for assessing homologous recombination deficiency in ovarian cancer.

Objective: Authors evaluated the performance of a commercially available next-generation sequencing assay kit; this was based on genomic content from Illumina's TruSight™ Oncology 500 research assay that identifies BRCA variants and proprietary algorithms licensed from Myriad and, with additional genomic content, measures the homologous recombination deficiency (HRD) genomic instability score (GIS) in tumor tissue (TSO 500 HRD assay).

Methods: Data from the TSO 500 HRD assay were compared with data from the Myriad MyChoice®CDx PLUS assay (Myriad assay). Prevalence rates for overall HRD status and BRCA mutations (a deleterious or suspected deleterious BRCA1 or BRCA2 mutation or both) and assay agreement rates for HRD GIS and BRCA analysis were assessed in ovarian tumor samples.

Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue.

Background And Objective: Patients with presumed nonlesional focal epilepsy-based on either MRI or histopathologic findings-have a lower success rate of epilepsy surgery compared with lesional patients. In this study, we aimed to characterize a large group of patients with focal epilepsy who underwent epilepsy surgery despite a normal MRI and had no lesion on histopathology. Determinants of their postoperative seizure outcomes were further studied.

Microsurgical Clipping of Unruptured Anterior Circulation Aneurysms-A Global Multicenter Investigation of Perioperative Outcomes.

Background And Objectives: Microsurgical aneurysm repair by clipping continues to be highly important despite increasing endovascular treatment options, especially because of inferior occlusion rates. This study aimed to present current global microsurgical treatment practices and to identify risk factors for complications and neurological deterioration after clipping of unruptured anterior circulation aneurysms.

Methods: Fifteen centers from 4 continents participated in this retrospective cohort study.

Predicting the need for cerebrospinal fluid shunt implantation after spontaneous intracerebral hemorrhage: a challenging task.

Objectives: The development of persistent hydrocephalus in patients after spontaneous intracerebral hemorrhage (ICH) is still poorly understood, and many variables predicting the need for a cerebrospinal fluid (CSF)-shunt have been described in the literature with varying results. The aim of this study is to find predictive factors for shunt dependency.

Methods: We performed a retrospective, single-center study of 99 neurosurgically treated patients with spontaneous ICH.

Current Aspects of Intraoperative High-Field (3T) Magnetic Resonance Imaging in Pediatric Neurosurgery: Experiences from a Recently Launched Unit at a Tertiary Referral Center.

Objective: To evaluate the neurosurgical and economic effectiveness of a newly launched intraoperative high-field (3T) magnetic resonance imaging (MRI) suite for pediatric tumor and epilepsy neurosurgery.

Methods: Altogether, 148 procedures for 124 pediatric patients (mean age, 8.7 years; range, 0-18 years) within a 2.

Tracking cell turnover in human brain using N-thymidine imaging mass spectrometry.

Microcephaly is often caused by an impairment of the generation of neurons in the brain, a process referred to as neurogenesis. While most neurogenesis in mammals occurs during brain development, it thought to continue to take place through adulthood in selected regions of the mammalian brain, notably the hippocampus. However, the generality of neurogenesis in the adult brain has been controversial.

Implementation of a 7T Epilepsy Task Force consensus imaging protocol for routine presurgical epilepsy work-up: effect on diagnostic yield and lesion delineation.

Objective: Recently, the 7 Tesla (7 T) Epilepsy Task Force published recommendations for 7 T magnetic resonance imaging (MRI) in patients with pharmaco-resistant focal epilepsy in pre-surgical evaluation. The objective of this study was to implement and evaluate this consensus protocol with respect to both its practicability and its diagnostic value/potential lesion delineation surplus effect over 3 T MRI in the pre-surgical work-up of patients with pharmaco-resistant focal onset epilepsy.

Methods: The 7 T MRI protocol consisted of T1-weighted, T2-weighted, high-resolution-coronal T2-weighted, fluid-suppressed, fluid-and-white-matter-suppressed, and susceptibility-weighted imaging, with an overall duration of 50 min.

Imaging brain tissue architecture across millimeter to nanometer scales.

Mapping the complex and dense arrangement of cells and their connectivity in brain tissue demands nanoscale spatial resolution imaging. Super-resolution optical microscopy excels at visualizing specific molecules and individual cells but fails to provide tissue context. Here we developed Comprehensive Analysis of Tissues across Scales (CATS), a technology to densely map brain tissue architecture from millimeter regional to nanometer synaptic scales in diverse chemically fixed brain preparations, including rodent and human.