Digital Commons Network^™

Diagnosis And Management Of Malignant Peripheral Nerve Sheath Tumors: Current Practice And Future Perspectives, Bethany C Prudner, Tyler Ball, Richa Rathore, Angela C Hirbe

2020-Current year OA Pubs

One of the most common malignancies affecting adults with the neurofibromatosis type 1 (NF1) cancer predisposition syndrome is the malignant peripheral nerve sheath tumor (MPNST), a highly aggressive sarcoma that typically develops from benign plexiform neurofibromas. Approximately 8-13% of individuals with NF1 will develop MPNST during young adulthood. There are few therapeutic options, and the vast majority of people with these cancers will die within 5 years of diagnosis. Despite efforts to understand the pathogenesis of these aggressive tumors, the overall prognosis remains dismal. This manuscript will review the current understanding of the cellular and molecular progression of MPNST, diagnostic …

Disease And Treatment Patterns Among Patients With Pouch-Related Conditions In A Cohort Of Large Tertiary Care Inflammatory Bowel Disease Centers In The United States, Edward L Barnes, Laura Raffals, Millie D Long, Gaurav Syal, Maia Kayal, Ashwin Ananthakrishnan, Benjamin Cohen, Joel Pekow, Parakkal Deepak, Jean-Frederic Colombel, Hans H Herfarth, Robert S Sandler

2020-Current year OA Pubs

BACKGROUND: Gaps exist in our understanding of the clinical course of pouch-related disorders.

METHODS: We evaluated baseline disease activity and longitudinal treatment patterns among patients with inflammatory conditions of the pouch.

RESULTS: Among 468 patients with an ileal pouch-anal anastomosis (IPAA), 94 (20%) had acute pouchitis, 96 (21%) had chronic pouchitis, and 192 (41%) had Crohn disease of the pouch. Following an IPAA, 38% of patients were treated with a biologic and 11% underwent inflammatory bowel disease- or bowel-related surgery.

CONCLUSIONS: Treatment patterns after IPAA indicate that pouch-related disorders have a significant impact on individual patients and the healthcare system.

Transcriptomes From German Shepherd Dogs Reveal Differences In Immune Activity Between Atopic Dermatitis Affected And Control Skin, K Tengvall, K Bergvall, M Olsson, B Ardesjö-Lundgren, F H G Farias, M Kierczak, Å Hedhammar, K Lindblad-Toh, G Andersson

2020-Current year OA Pubs

Canine atopic dermatitis (CAD) is an inflammatory and pruritic allergic skin disease with both genetic and environmental risk factors described. We performed mRNA sequencing of non-lesional axillary skin biopsies from nine German shepherd dogs. Obtained RNA sequences were mapped to the dog genome (CanFam3.1) and a high-quality skin transcriptome was generated with 23,510 expressed gene transcripts. Differentially expressed genes (DEGs) were defined by comparing three controls to five treated CAD cases. Using a leave-one-out analysis, we identified seven DEGs: five known to encode proteins with functions related to an activated immune system (CD209, CLEC4G, LOC102156842 (lipopolysaccharide-binding protein-like), LOC480601 (regakine-1-like), LOC479668 …

Utstein Recommendation For Emergency Stroke Care, A. Rudd, P. Panagos, Et Al

2020-Current year OA Pubs

BACKGROUND: Recent advances in treatment for stroke give new possibilities for optimizing outcomes. To deliver these prehospital care needs to become more efficient.

AIM: To develop a framework to support improved delivery of prehospital care. The recommendations are aimed at clinicians involved in prehospital and emergency health systems who will often not be stroke specialists but need clear guidance as to how to develop and deliver safe and effective care for acute stroke patients.

METHODS: Building on the successful implementation program from the Global Resuscitation Alliance and the Resuscitation Academy, the Utstein methodology was used to define a generic chain …

Test-Retest Reliability Of Fmri-Measured Brain Activity During Decision Making Under Risk, Ozlem Korucuoglu, Michael P. Harms, Serguei V. Astafiev, James T. Kennedy, Semyon Golosheykin, Deanna M. Barch, Andrey P. Anokhin

2020-Current year OA Pubs

Neural correlates of decision making under risk are being increasingly utilized as biomarkers of risk for substance abuse and other psychiatric disorders, treatment outcomes, and brain development. This research relies on the basic assumption that fMRI measures of decision making represent stable, trait-like individual differences. However, reliability needs to be established for each individual construct. Here we assessed long-term test-retest reliability (TRR) of regional brain activations related to decision making under risk using the Balloon Analogue Risk Taking task (BART) and identified regions with good TRRs and familial influences, an important prerequisite for the use of fMRI measures in genetic …

A Domain-General Cognitive Core Defined In Multimodally Parcellated Human Cortex, Moataz Assem, Matthew F Glasser, David C Van Essen, John Duncan

2020-Current year OA Pubs

Numerous brain imaging studies identified a domain-general or "multiple-demand" (MD) activation pattern accompanying many tasks and may play a core role in cognitive control. Though this finding is well established, the limited spatial localization provided by traditional imaging methods precluded a consensus regarding the precise anatomy, functional differentiation, and connectivity of the MD system. To address these limitations, we used data from 449 subjects from the Human Connectome Project, with the cortex of each individual parcellated using neurobiologically grounded multimodal MRI features. The conjunction of three cognitive contrasts reveals a core of 10 widely distributed MD parcels per hemisphere that …

Prevalence, Incidence, And Clearance Of Human Papillomavirus Types Covered By Current Vaccines In Men With Human Immunodeficiency Virus In The Sun Study, Pragna Patel, Tim Bush, Lois Conley, Elizabeth R Unger, Teresa M Darragh, Keith Henry, Gerome Escota, John T Brooks, Erna Milunka Kojic

2020-Current year OA Pubs

BACKGROUND: High-risk anal human papillomavirus (HPV) infection is prevalent among men living with human immunodeficiency virus (HIV); the association between 9-valent (9v) high-risk HPV (HR-HPV) vaccine types and abnormal cytology has not been well characterized.

METHODS: We followed a prospective cohort study of persons with HIV at 7 HIV clinics in 4 US cities from March 2004 through June 2012. Annually, providers collected separate anal swabs for HPV detection and cytopathologic examination. Among men, we examined prevalence, incidence, and clearance of 9v HR-HPV vaccine types, compared with other HR types, and associations with abnormal cytology to assess potential vaccine impact. …

Quantitative Measures Of Health Policy Implementation Determinants And Outcomes: A Systematic Review, Peg Allen, Meagan Pilar, Callie Walsh-Bailey, Cole Hooley, Stephanie Mazzucca, Cara C Lewis, Kayne D Mettert, Caitlin N Dorsey, Jonathan Purtle, Maura M Kepper, Ana A Baumann, Ross C Brownson

2020-Current year OA Pubs

BACKGROUND: Public policy has tremendous impacts on population health. While policy development has been extensively studied, policy implementation research is newer and relies largely on qualitative methods. Quantitative measures are needed to disentangle differential impacts of policy implementation determinants (i.e., barriers and facilitators) and outcomes to ensure intended benefits are realized. Implementation outcomes include acceptability, adoption, appropriateness, compliance/fidelity, feasibility, penetration, sustainability, and costs. This systematic review identified quantitative measures that are used to assess health policy implementation determinants and outcomes and evaluated the quality of these measures.

METHODS: Three frameworks guided the review: Implementation Outcomes Framework (Proctor et al.), Consolidated …

25-Hydroxycholesterol Amplifies Microglial Il-1Β Production In An Apoe Isoform-Dependent Manner, Man Ying Wong, Michael Lewis, James J Doherty, Yang Shi, Anil G Cashikar, Anna Amelianchik, Svitlana Tymchuk, Patrick M Sullivan, Mingxing Qian, Douglas F Covey, Gregory A Petsko, David M Holtzman, Steven M Paul, Wenjie Luo

2020-Current year OA Pubs

BACKGROUND: Genome-wide association studies of Alzheimer's disease (AD) have implicated pathways related to lipid homeostasis and innate immunity in AD pathophysiology. However, the exact cellular and chemical mediators of neuroinflammation in AD remain poorly understood. The oxysterol 25-hydroxycholesterol (25-HC) is an important immunomodulator produced by peripheral macrophages with wide-ranging effects on cell signaling and innate immunity. Cholesterol 25-hydroxylase (CH25H), the enzyme responsible for 25-HC production, has also been found to be one of the disease-associated microglial (DAM) genes that are upregulated in the brain of AD and AD transgenic mouse models.

METHODS: We used real-time PCR and immunoblotting to examine …

Recurrent Takotsubo Cardiomyopathy In A Patient With Hypertrophic Cardiomyopathy Leading To Cardiogenic Shock Requiring Va-Ecmo, Mustafa Husaini, Joshua N Baker, Sharon Cresci, Richard Bach, Shane J Larue

2020-Current year OA Pubs

Providing hemodynamic support for patients with hypertrophic cardiomyopathy and cardiogenic shock can be challenging because inotropic medications worsen intraventricular obstruction, and the effect of appropriate mechanical support remains undefined. We report a patient with hypertrophic cardiomyopathy in shock because of takotsubo cardiomyopathy requiring venoarterial extracorporeal membrane oxygenation and septal reduction for full recovery. (

Implications Of New Understandings Of Gliomas In Children And Adults With Nf1: Report Of A Consensus Conference, Roger J Packer, David H Gutmann, Et Al.

2020-Current year OA Pubs

Gliomas are the most common primary central nervous system tumors occurring in children and adults with neurofibromatosis type 1 (NF1). Over the past decade, discoveries of the molecular basis of low-grade gliomas (LGGs) have led to new approaches for diagnosis and treatments. However, these new understandings have not been fully applied to the management of NF1-associated gliomas. A consensus panel consisting of experts in NF1 and gliomas was convened to review the current molecular knowledge of NF1-associated low-grade "transformed" and high-grade gliomas; insights gained from mouse models of NF1-LGGs; challenges in diagnosing and treating older patients with NF1-associated gliomas; and …

Ccdc61/Vfl3 Is A Paralog Of Sas6 And Promotes Ciliary Functions, Takashi Ochi, Huawen Lin, Susan K Dutcher, Et Al.

2020-Current year OA Pubs

Centrioles are cylindrical assemblies whose peripheral microtubule array displays a 9-fold rotational symmetry that is established by the scaffolding protein SAS6. Centriole symmetry can be broken by centriole-associated structures, such as the striated fibers in Chlamydomonas that are important for ciliary function. The conserved protein CCDC61/VFL3 is involved in this process, but its exact role is unclear. Here, we show that CCDC61 is a paralog of SAS6. Crystal structures of CCDC61 demonstrate that it contains two homodimerization interfaces that are similar to those found in SAS6, but result in the formation of linear filaments rather than rings. Furthermore, we show …

Evaluation Of Mavacamten In Symptomatic Patients With Nonobstructive Hypertrophic Cardiomyopathy, Carolyn Y Ho, Richard G Bach, Et Al.

2020-Current year OA Pubs

BACKGROUND: Patients with nonobstructive hypertrophic cardiomyopathy (nHCM) often experience a high burden of symptoms; however, there are no proven pharmacological therapies. By altering the contractile mechanics of the cardiomyocyte, myosin inhibitors have the potential to modify pathophysiology and improve symptoms associated with HCM.

OBJECTIVES: MAVERICK-HCM (Mavacamten in Adults With Symptomatic Non-Obstructive Hypertrophic Cardiomyopathy) explored the safety and efficacy of mavacamten, a first-in-class reversible inhibitor of cardiac-specific myosin, in nHCM.

METHODS: The MAVERICK-HCM trial was a multicenter, double-blind, placebo-controlled, dose-ranging phase II study in adults with symptomatic nHCM (New York Heart Association functional class II/III), left ventricular ejection fraction (LVEF) ≥55%, …

Epigenomic Programming In Early Fetal Brain Development, Luolan Li, Ting Wang, Et Al

2020-Current year OA Pubs

No abstract provided.

The Wrinkling Of Time: Aging, Inflammation, Oxidative Stress, And The Circadian Clock In Neurodegeneration, Brian V Lananna, Erik S Musiek

2020-Current year OA Pubs

A substantial body of research now implicates the circadian clock in the regulation of an array of diverse biological processes including glial function, metabolism, peripheral immune responses, and redox homeostasis. Sleep abnormalities and other forms of circadian disruption are common symptoms of aging and neurodegeneration. Circadian clock disruption may also influence the aging processes and the pathogenesis of neurodegenerative diseases. The specific mechanisms governing the interaction between circadian systems, aging, and the immune system are still being uncovered. Here, we review the evidence supporting a bidirectional relationship between aging and the circadian system. Further, we explore the hypothesis that age-related …

Tfeb Is A Master Regulator Of Tumor-Associated Macrophages In Breast Cancer, Yong Li, Johnie Hodge, Qing Liu, Junfeng Wang, Yuzhen Wang, Trent D Evans, Diego Altomare, Yongzhong Yao, E. Angela Murphy, Babak Razani, Daping Fan

2020-Current year OA Pubs

BACKGROUND: Tumor-associated macrophages (TAMs) play key roles in the development of many malignant solid tumors including breast cancer. They are educated in the tumor microenvironment (TME) to promote tumor growth, metastasis, and therapy resistance. However, the phenotype of TAMs is elusive and how to regulate them for therapeutic purpose remains unclear; therefore, TAM-targeting therapies have not yet achieved clinical success. The purposes of this study were to examine the role of transcription factor EB (TFEB) in regulating TAM gene expression and function and to determine if TFEB activation can halt breast tumor development.

METHODS: Microarrays were used to analyze the …

Phase 2 Study Of Cemiplimab In Patients With Metastatic Cutaneous Squamous Cell Carcinoma: Primary Analysis Of Fixed-Dosing, Long-Term Outcome Of Weight-Based Dosing, Danny Rischin, Leonel Hernandez-Aya, Et Al

2020-Current year OA Pubs

BACKGROUND: Cemiplimab, a high-affinity, potent human immunoglobulin G4 monoclonal antibody to programmed cell death-1 demonstrated antitumor activity in a Phase 1 advanced cutaneous squamous cell carcinoma (CSCC) expansion cohort (NCT02383212) and the pivotal Phase 2 study (NCT02760498). Here we report the primary analysis of fixed dose cemiplimab 350 mg intravenously every 3 weeks (Q3W) (Group 3) and provide a longer-term update after the primary analysis of weight-based cemiplimab 3 mg/kg intravenously every 2 weeks (Q2W) (Group 1) among metastatic CSCC (mCSCC) patients in the pivotal study (NCT02760498).

METHODS: The primary objective for each group was objective response rate (ORR) per …

Natural History Of Geographic Atrophy Secondary To Age-Related Macular Degeneration: Results From The Prospective Proxima A And B Clinical Trials, Nancy Holekamp, Charles C Wykoff, Steffen Schmitz-Valckenberg, Jordi Monés, Eric H Souied, Hugh Lin, Melvin D Rabena, Ronald A Cantrell, Erin C Henry, Fan Tang, Balakumar Swaminathan, Jillian Martin, Daniela Ferrara, Giovanni Staurenghi

2020-Current year OA Pubs

PURPOSE: To better characterize visual function decline and geographic atrophy (GA) progression secondary to age-related macular degeneration (AMD).

DESIGN: Proxima A (NCT02479386)/Proxima B (NCT02399072) were global, prospective, noninterventional, observational clinical trials.

PARTICIPANTS: Eligible patients were aged ≥50 years. Patients in Proxima A had bilateral GA without choroidal neovascularization (CNV) in either eye (N = 295). Patients in Proxima B had GA without CNV in the study eye and CNV±GA in the fellow eye (fellow eye CNV cohort, n = 168) or GA without CNV in the study eye, no CNV/GA in the fellow eye (fellow eye intermediate AMD cohort, n …

Effects Of Ruxolitinib Cream On Pruritus And Quality Of Life In Atopic Dermatitis: Results From A Phase 2, Randomized, Dose-Ranging, Vehicle- And Active-Controlled Study, Brian S Kim, Kang Sun, Kim Papp, May Venturanza, Adnan Nasir, Michael E. Kuligowski

2020-Current year OA Pubs

BACKGROUND: Atopic dermatitis (AD), a chronic, highly pruritic skin disorder, impairs quality of life (QoL). Janus kinase inhibitors suppress inflammatory and pruritus-associated cytokine signaling in AD.

OBJECTIVE: To report the effects of ruxolitinib (RUX) cream on itch and QoL in AD.

METHODS: A total of 307 adult patients with an Investigator's Global Assessment (score of 2 or 3) and 3% to 20% affected body surface area were randomly assigned for 8 weeks to receive double-blind treatment with RUX (1.5% twice daily, 1.5% once daily, 0.5% once daily, or 0.15% once daily), vehicle twice daily, or triamcinolone cream (0.1% twice daily …

Dupilumab Treatment Results In Early And Sustained Improvements In Itch In Adolescents And Adults With Moderate To Severe Atopic Dermatitis: Analysis Of The Randomized Phase 3 Studies Solo 1 And Solo 2, Ad Adol, And Chronos, Jonathan I. Silverberg, Gil Yosipovitch, Eric L. Simpson, Brian S. Kim, Jashin J. Wu, Laurent Eckert, Isabelle Guillemin, Zhen Chen, Marius Ardeleanu, Ashish Bansal, Mandeep Kaur, Ana B. Rossi, Neil M. H. Graham, Naimish Patel, Abhijit Gadkari

2020-Current year OA Pubs

BACKGROUND: Pruritus (itch) is a cardinal symptom in atopic dermatitis (AD).

OBJECTIVE: To evaluate the timing and effect of dupilumab on itch.

METHODS: Analysis of data from 1505 patients with moderate to severe AD included in 4 randomized controlled studies, treated for up to 52 weeks. Adults received dupilumab 300 mg every 2 weeks or placebo monotherapy (SOLO 1: NCT02277743; SOLO 2: NCT02277769), with concomitant topical corticosteroids (CHRONOS: NCT02260986); adolescents (≥12 to <18 y) were treated with dupilumab monotherapy every 2 weeks (200 mg for baseline weight of <60 kg; 300 mg for baseline weight of ≥60 kg) or placebo (AD ADOL: NCT03054428).

RESULTS: Dupilumab showed significant rapid improvements from baseline in daily Peak Pruritus Numerical Rating Scale scores versus placebo, by day 2 in adults and day 5 in adolescents. …

A Randomized Controlled Phase Iii Study Of Vb-111 Combined With Bevacizumab Vs Bevacizumab Monotherapy In Patients With Recurrent Glioblastoma (Globe), Timothy F Cloughesy, Andrew Brenner, John F De Groot, Nicholas A Butowski, Leor Zach, Jian L Campian, Benjamin M Ellingson, Laurence S Freedman, Yael C Cohen, Noa Lowenton-Spier, Tamar Rachmilewitz Minei, Shifra Fain Shmueli, Globe Study Investigators, Patrick Y Wen

2020-Current year OA Pubs

BACKGROUND: Ofranergene obadenovec (VB-111) is an anticancer viral therapy that demonstrated in a phase II study a survival benefit for patients with recurrent glioblastoma (rGBM) who were primed with VB-111 monotherapy that was continued after progression with concomitant bevacizumab.

METHODS: This pivotal phase III randomized, controlled trial compared the efficacy and safety of upfront combination of VB-111 and bevacizumab versus bevacizumab monotherapy. Patients were randomized 1:1 to receive VB-111 1013 viral particles every 8 weeks in combination with bevacizumab 10 mg/kg every 2 weeks (combination arm) or bevacizumab monotherapy (control arm). The primary endpoint was overall survival (OS), and secondary …

The Gossypium Longicalyx Genome As A Resource For Cotton Breeding And Evolution, Corrinne E Grover, Mengqiao Pan, Daojun Yuan, Mark A Arick, Guanjing Hu, Logan Brase, David M Stelly, Zefu Lu, Robert J Schmitz, Daniel G Peterson, Jonathan F Wendel, Joshua A Udall

2020-Current year OA Pubs

Cotton is an important crop that has made significant gains in production over the last century. Emerging pests such as the reniform nematode have threatened cotton production. The rare African diploid species

No Difference In Strength And Clinical Outcome Between Early And Late Repair After Achilles Tendon Rupture, Michael R Carmont, Jennifer A Zellers, Annelie Brorsson, Karin Grävare Silbernagel, Jón Karlsson, Katarina Nilsson-Helander

2020-Current year OA Pubs

PURPOSE: This retrospective study aimed to determine the patient-reported and functional outcome of patients with delayed presentation, who had received no treatment until 14 days following injury of Achilles tendon rupture repaired with minimally invasive surgery and were compared with a group of sex- and age-matched patients presenting acutely. Based on the outcomes following delayed presentation reported in the literature, it was hypothesized that outcomes would be inferior for self-reported outcome, tendon elongation, heel-rise performance, ability to return to play, and complication rates than for acutely managed patients.

METHODS: Repair was performed through an incision large enough to permit mobilisation …

Late Effects Of Clubfoot Deformity In Adolescent And Young Adult Patients Whose Initial Treatment Was An Extensive Soft-Tissue Release: Topic Review And Clinical Case Series, Jeffrey E Johnson, Thomas A Fortney, Pamela C Luk, Sandra E Klein, Jeremy J Mccormick, Matthew B Dobbs, J Eric Gordon, Perry L Schoenecker

2020-Current year OA Pubs

Children with congenital clubfoot often have residual deformity, pain, and limited function in adolescence and young adulthood. These patients represent a heterogeneous group that often requires an individualized management strategy. This article reviews the available literature on this topic while proposing a descriptive classification system based on a review of patients at our institution who underwent surgery for problems related to previous clubfoot deformity during the period between January 1999 and January 2012. Seventy-two patients (93 feet) underwent surgical treatment for the late effects of clubfoot deformity at an average age of 13 years (range 9 to 19 years). All …

Three-Dimensional Facial Morphology In Cantú Syndrome, Helen I Roessler, Kathleen Shields, Dorothy K Grange, Nine V A M Knoers, Gijs Van Haaften, Peter Hammond, Mieke M Van Haelst

2020-Current year OA Pubs

Cantú syndrome (CS) was first described in 1982, and is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP-sensitive potassium (K

Hypoglycaemia Is Reduced With Use Of Inhaled Technosphere ® Insulin Relative To Insulin Aspart In Type 1 Diabetes Mellitus, E R Seaquist, L Blonde, J B Mcgill, S R Heller, D M Kendall, J B Bumpass, F M Pompilio, M L Grant

2020-Current year OA Pubs

AIM: To evaluate the effect of final HbA

METHODS: In the randomized, phase 3, multicentre AFFINITY-1 study, adults (N = 375) who had type 1 diabetes for ≥ 12 months and an HbA

RESULTS: Participants treated with Technosphere Insulin experienced statistically significantly fewer level 1 and 2 hypoglycaemic events and a lower incidence of level 3 hypoglycaemia than participants treated with insulin aspart. The lower rate of hypoglycaemia with Technosphere Insulin was observed across the range of end-of-treatment HbA

CONCLUSIONS: Participants using Technosphere Insulin experienced clinically non-inferior glycaemic control and lower hypoglycaemia rates across a range of HbA

Neural Circuit Dynamics For Sensory Detection, Sruti Mallik, Srinath Nizampatnam, Anirban Nandi, Debajit Saha, Baranidharan Raman, Shinung Ching

2020-Current year OA Pubs

We consider the question of how sensory networks enable the detection of sensory stimuli in a combinatorial coding space. We are specifically interested in the olfactory system, wherein recent experimental studies have reported the existence of rich, enigmatic response patterns associated with stimulus onset and offset. This study aims to identify the functional relevance of such response patterns (i.e., what benefits does such neural activity provide in the context of detecting stimuli in a natural environment). We study this problem through the lens of normative, optimization-based modeling. Here, we define the notion of a low-dimensional latent representation of stimulus identity, …

Rna-Induced Conformational Switching And Clustering Of G3bp Drive Stress Granule Assembly By Condensation, Jordina Guillén-Boixet, Alex S. Holehouse, Rohit V. Pappu, Et Al.

2020-Current year OA Pubs

Stressed cells shut down translation, release mRNA molecules from polysomes, and form stress granules (SGs) via a network of interactions that involve G3BP. Here we focus on the mechanistic underpinnings of SG assembly. We show that, under non-stress conditions, G3BP adopts a compact auto-inhibited state stabilized by electrostatic intramolecular interactions between the intrinsically disordered acidic tracts and the positively charged arginine-rich region. Upon release from polysomes, unfolded mRNAs outcompete G3BP auto-inhibitory interactions, engendering a conformational transition that facilitates clustering of G3BP through protein-RNA interactions. Subsequent physical crosslinking of G3BP clusters drives RNA molecules into networked RNA/protein condensates. We show that …

Prevalence Of Clinically Actionable Disease Variants In Exceptionally Long-Lived Families, Paige Carlson, Mary K Wojczynski, Todd Druley, Joseph H Lee, Joseph M Zmuda, Bharat Thyagarajan

2020-Current year OA Pubs

BACKGROUND: Phenotypic expression of pathogenic variants in individuals with no family history of inherited disorders remains unclear.

METHODS: We evaluated the prevalence of pathogenic variants in 25 genes associated with Mendelian-inherited disorders in 3015 participants from 485 families in the Long Life Family Study (LLFS). Boot-strapping and Fisher's exact test were used to determine whether allele frequencies in LLFS were significantly different from the allele frequencies reported in publicly available genomic databases.

RESULTS: The proportions of pathogenic autosomal dominant mutation carriers in BRCA1 and SDHC in LLFS study participants were similar to those reported in publicly available genomic databases (0.03% …

Laser Ablation Of Abnormal Neurological Tissue Using Robotic Neuroblate System (Laantern): Procedural Safety And Hospitalization, Robert C. Rennert, Usman Khan, Jiri Bartek, Stephen B. Tatter, Melvin Field, Brian Toyota, Peter E. Fecci, Kevin Judy, Alireza M. Mohammadi, Patrick Landazuri, Andrew E. Sloan, Albert H. Kim, Eric C. Leuthardt, Clark C. Chen

2020-Current year OA Pubs

BACKGROUND: Stereotactic laser ablation (SLA) has demonstrated potential utility for a spectrum of difficult to treat neurosurgical pathologies in multiple small and/or retrospective single-institutional series. Here, we present the safety profile of SLA of intracranial lesions from the Laser Ablation of Abnormal Neurological Tissue using Robotic NeuroBlate System (LAANTERN; Monteris Medical) multi-institutional, international prospective observational registry.

OBJECTIVE: To determine the procedural safety of SLA for intracranial lesions.

METHODS: Prospective procedural safety and hospitalization data from the first 100 treated LAANTERN patients was collected and analyzed.

RESULTS: Mean age and baseline Karnofsky Performance Status (KPS) were 51(± 17) yr and 83(± …