Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations.

Human induced pluripotent stem cell (iPSC) lines TRNDi037-A and TRNDi038-A were generated from the lymphoblastoid cell lines (LCL) of two patients with different heterozygous JAG1 variants resulting in Alagille syndrome (ALGS). ALGS is a rare genetic disease of haploinsufficiency that affects the formation of the bile duct, in addition to other symptoms. These ALGS iPSC lines can be used to model ALGS and aid in the identification of therapeutics to treat patients with ALGS.

Neuromodulation and Disorders of Consciousness: Systematic Review and Pathophysiology.

Introduction: Disorders of consciousness (DoC) represent a range of clinical states, affect hundreds of thousands of people in the United States, and have relatively poor outcomes. With few effective pharmacotherapies, neuromodulation has been investigated as an alternative for treating DoC. To summarize the available evidence, a systematic review of studies using various forms of neuromodulation to treat DoC was conducted.

Reappraisal of the Previously Described False Localizing Sign at C1-2 in Cases of Spontaneous Intracranial Hypotension.

Background And Objectives: We present an illustrative case of spontaneous intracranial hypotension (SIH) in the setting of a suspected C1-2 cerebrospinal fluid (CSF) leak that was successfully treated with muscle, collagen, and epidural blood patch. We examined the literature to identify similar cases reporting Cl-2 retrospinal fluid collections identified on imaging in the setting of SIH and quantified the success of targeted treatment to this area despite previous reports that caution about a "C1-2 false localizing sign."

Methods: A systematic search was performed identifying cases of SIH resulting from CSF leak with C1-2 fluid collection observed on imaging.

Cell-in-cell phenomena of intracellular neutrophils in a recurrent pleomorphic xanthoastrocytoma.

We describe a case of a young patient with a recurrent pleomorphic xanthoastrocytoma (PXA) showing unusual cell-in-cell (CiC) phenomena. We observed mostly viable but also necrotic neutrophils engulfed within tumor cells. The recurrent tumor was immunopositive for BRAFV600E mutant protein and showed CDKN2 homozygous deletions typical of PXA.

Comparison of CT-Guided needle biopsy versus percutaneous endoscopic debridement and drainage in pathogen identification and pain outcomes for spondylodiscitis patients: A systematic review and literature review.

Introduction: Spondylodiscitis (SD) is an infection of the intervertebral disc with involvement of the adjacent vertebral bodies. Diagnostic tests with CT-guided biopsy only provide a positive yield in 14%-48% of cases. Percutaneous endoscopic debridement and drainage (PEDD) has recently shown promise in the treatment of spondylodiscitis.

Friedman's Gradient-Boosting Algorithm Predicts Lactate-Pyruvate Ratio Trends in Cases of Intracerebral Hemorrhages.

Objective: The local effects of an intracerebral hemorrhage (ICH) on surrounding brain tissue can be detected bedside using multimodal brain monitoring techniques. The aim of this study is to design a gradient boosting regression model using the R package boostmtree with the ability to predict lactate-pyruvate ratio measurements in ICH.

Methods: We performed a retrospective analysis of 6 spontaneous ICH and 6 traumatic ICH patients who underwent surgical removal of the clot with microdialysis catheters placed in the perihematomal zone.

Outcome of Percutaneous Endoscopic Lumbar Discectomy in Relation to the Surgeon's Experience: Propensity Score Matching.

Percutaneous endoscopic lumbar discectomy (PELD) presents a challenging learning curve, and the correlation between surgeon experience and clinical outcomes remains contentious. This retrospective study aimed to compare the outcomes of PELD performed by a single surgeon at beginner and experienced stages. Propensity score matching selected 150 patients (75 per group) with a minimum 3-year follow-up.

What is the Philosophy of Neurosurgery? Systematic Review and Defining the Discipline.

Introduction: Despite centuries of joint investigation of philosophy and neurological interventions, a founding account for the philosophy of neurosurgery has yet to be rigorously constructed or defended. This paper reviews recent work on the philosophy of neurosurgery, spanning metaphysics, epistemology, and value theory, to establish a framework and clinical relevance for study in the philosophy of neurosurgery.

Methods: A systematic review of an online database was conducted using the broad search terms, "Philosophy AND (Neurosurgery OR Neurological Surgery).

Comparative kinetics of humans and non-human primates during vertical climbing.

Climbing represents a critical behavior in the context of primate evolution. However, anatomically modern human populations are considered ill-suited for climbing. This adaptation can be attributed to the evolution of striding bipedalism, redirecting anatomical traits away from efficient climbing.

Deep Brain Stimulation as an Emerging Therapy for Cognitive Decline in Alzheimer Disease: Systematic Review of Evidence and Current Targets.

Objective: With no cure for Alzheimer disease (AD), current efforts involve therapeutics that prevent further cognitive impairment. Deep brain stimulation (DBS) has been studied for its potential to mitigate AD symptoms. This systematic review investigates the efficacy of current and previous targets for their ability to slow cognitive decline in treating AD.

Endoscopic Anterior Lumbar Interbody Fusion: Systematic Review and Meta-Analysis.

Laparoscopic anterior lumbar interbody fusion (L-ALIF), which employs laparoscopic cameras to facilitate a less invasive approach, originally gained traction during the 1990s but has subsequently fallen out of favor. As the envelope for endoscopic approaches continues to be pushed, a recurrence of interest in laparoscopic and/or endoscopic anterior approaches seems possible. Therefore, evaluating the current evidence base in regard to this approach is of much clinical relevance.

Structural brain differences in essential tremor and Parkinson's disease deep brain stimulation patients.

Background: Essential tremor (ET) and Parkinson's disease (PD) are the most common tremor disorders and are common indications for deep brain stimulation (DBS). In some patients, PD and ET symptoms overlap and diagnosis can be challenging based on clinical criteria alone. The objective of this study was to identify structural brain differences between PD and ET DBS patients to help differentiate these disorders and improve our understanding of the different brain regions involved in these pathologic processes.

External Validation of the Global Alignment and Proportion Score as Prognostic Tool for Corrective Surgery in Adult Spinal Deformity: A Systematic Review and Meta-Analysis.

Background: Since its proposal, the Global Alignment and Proportion (GAP) score has been the topic of several external validation studies, which have yielded conflicting results. Given the lack of consensus regarding this prognostic tool, the authors aim to assess the accuracy of GAP scores for predicting mechanical complications following adult spinal deformity correction surgery.

Methods: A systematic search was performed using PubMed, Embase, and Cochrane Library for the purpose of identifying all studies evaluating the GAP score as a predictive tool for mechanical complications.

A deep catalog of protein-coding variation in 985,830 individuals.

Coding variants that have significant impact on function can provide insights into the biology of a gene but are typically rare in the population. Identifying and ascertaining the frequency of such rare variants requires very large sample sizes. Here, we present the largest catalog of human protein-coding variation to date, derived from exome sequencing of 985,830 individuals of diverse ancestry to serve as a rich resource for studying rare coding variants.

Resident Training in Spine Surgery: A Systematic Review of Simulation-Based Educational Models.

Objective: With the increasing prevalence of spine surgery, ensuring effective resident training is becoming of increasing importance. Training safe, competent surgeons relies heavily on effective teaching of surgical indications and adequate practice to achieve a minimum level of technical proficiency before independent practice. American Council of Graduate Medical Education work-hour restrictions have complicated the latter, forcing programs to identify novel methods of surgical resident training.

Schizophrenia and neurosurgery: systematic review and theories.

Objective: Despite its relatively low prevalence, schizophrenia has a high burden of illness due to its lifelong effects and the fact that it is often refractory to psychotropic treatment. This review investigated how neurosurgical interventions, primarily neuromodulation through deep brain stimulation (DBS), can mitigate treatment-refractory schizophrenia. Pathophysiological data and ongoing clinical trials were reviewed to suggest which targets hold promise for neurosurgical efficacy.

A Chirality-Based Quantum Leap.

There is increasing interest in the study of chiral degrees of freedom occurring in matter and in electromagnetic fields. Opportunities in quantum sciences will likely exploit two main areas that are the focus of this Review: (1) recent observations of the chiral-induced spin selectivity (CISS) effect in chiral molecules and engineered nanomaterials and (2) rapidly evolving nanophotonic strategies designed to amplify chiral light-matter interactions. On the one hand, the CISS effect underpins the observation that charge transport through nanoscopic chiral structures favors a particular electronic spin orientation, resulting in large room-temperature spin polarizations.

Emergence of Floquet edge states in the coupled Su-Schrieffer-Heeger model.

The emergence of non equilibrium topological phases in low dimensional systems offers an interesting route for material properties engineering. We analyze the dynamical modulation of two coupled one-dimensional chains, described by the Su-Schrieffer-Heeger model. We find that the interplay of driving interactions and interchain coupling leads to the emergence of non-equilibrium edge states with nontrivial topological properties.

UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab.

Sarilumab is a human monoclonal antibody against interleukin (IL)-6Rα that has been approved for the treatment of adult patients with moderately to severely active rheumatoid arthritis (RA) and an inadequate response or intolerance to one or more disease-modifying antirheumatic drugs (DMARDs). Mild liver function test abnormalities have been observed in patients treated with sarilumab. We describe a genome-wide association study of bilirubin elevations in RA patients treated with sarilumab.

Radiation modulated spin coupling in a double-stranded DNA model.

The spin activity in macromolecules such as DNA and oligopeptides, in the context of the chiral induced spin selectivity has been proposed to be due to the atomic spin-orbit coupling (SOC) and the associated chiral symmetry of the structures. This coupling, associated with carbon, nitrogen and oxygen atoms in biological molecules, albeit small (meV), can be enhanced by the geometry, and strong local polarization effects such as hydrogen bonding. A novel way to manipulate the spin degree of freedom is by modifying the spectrum using a coupling to the appropriate electromagnetic radiation field.

Diffusion along perivascular spaces reveals evidence supportive of glymphatic function impairment in Parkinson disease.

Background: Reduced diffusion along perivascular spaces in adults with Alzheimer's-disease-related-dementias has been reported and attributed to reduced glymphatic function.

Objectives: To apply quantitative measures of diffusion along, and orthogonal to, perivascular spaces in a cohort of older adults with and without clinical symptoms of alpha-synuclein related neurodegeneration.

Methods: 181 adults with Parkinson disease (PD) or essential tremor (ET) additionally sub-classified by the presence of cognitive impairment underwent 3 T MRI.

Anatomical texture patterns identify cerebellar distinctions between essential tremor and Parkinson's disease.

Voxel-based morphometry is an established technique to study focal structural brain differences in neurologic disease. More recently, texture-based analysis methods have enabled a pattern-based assessment of group differences, at the patch level rather than at the voxel level, allowing a more sensitive localization of structural differences between patient populations. In this study, we propose a texture-based approach to identify structural differences between the cerebellum of patients with Parkinson's disease (n = 280) and essential tremor (n = 109).

Subthalamic Nucleus Subregion Stimulation Modulates Inhibitory Control.

Patients with Parkinson's disease (PD) often experience reductions in the proficiency to inhibit actions. The motor symptoms of PD can be effectively treated with deep brain stimulation (DBS) of the subthalamic nucleus (STN), a key structure in the frontal-striatal network that may be directly involved in regulating inhibitory control. However, the precise role of the STN in stopping control is unclear.