keyword
https://read.qxmd.com/read/38183037/assessing-the-integrity-of-auditory-sensory-memory-processing-in-cln3-disease-juvenile-neuronal-ceroid-lipofuscinosis-batten-disease-an-auditory-evoked-potential-study-of-the-duration-evoked-mismatch-negativity-mmn
#21
JOURNAL ARTICLE
Tufikameni Brima, Edward G Freedman, Kevin D Prinsloo, Erika F Augustine, Heather R Adams, Kuan Hong Wang, Jonathan W Mink, Luke H Shaw, Emma P Mantel, John J Foxe
BACKGROUND: We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of "duration" processing. Given decrements in auditory processing abilities associated with later-stage CLN3 disease, we hypothesized that the duration-evoked mismatch negativity (MMN) of the event related potential (ERP) would be a marker of progressively atypical cortical processing in this population, with potential applicability as a brain-based biomarker in clinical trials...
January 6, 2024: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/38170785/intravitreal-enzyme-replacement-for-inherited-retinal-diseases
#22
JOURNAL ARTICLE
Ana Catalina Rodriguez-Martinez, James Wawrzynski, Robert H Henderson
PURPOSE OF REVIEW: This paper provides an update on intravitreal (IVT) enzyme replacement therapy (ERT) in metabolic retinal diseases; particularly neuronal ceroid lipofuscinosis type 2 (CLN2) also known as Batten disease. RECENT FINDINGS: ERT is being explored in CLN2 related Batten disease, a fatal neurodegenerative condition associated with retinopathy and blindness that is caused by the deficiency of lysosomal enzyme TPP1. Cerliponase alfa, a recombinant human tripeptidyl-peptidase1 (rhTPP1) administered by intraventricular infusions has been demonstrated to slow the rate of neurodegenerative decline but not retinopathy...
December 27, 2023: Current Opinion in Ophthalmology
https://read.qxmd.com/read/38166375/amine-based-mof-for-precious-metal-remediation
#23
JOURNAL ARTICLE
Jade Nadine S Ang, Ali Y Chahine, Thomas J Raeber, Stuart R Batten, David R Turner
Due to the continuous growth rate of the electronic industry, hi-tech companies depend on mining and extracting precious metals to meet the public demand. The high turnover of modern devices generates an alarming amount of electronic waste (e-waste), which contains more precious metals than mined ores and therefore needs efficient recovery procedures. A highly stable homopiperazine-derived Cd-MOF , poly -[Cd(H2 L)]·9H2 O, with a protonated amine ligand core, exists as a twofold interpenetrated 3D framework with 1D channels into which the N+ -H bond is directed...
January 3, 2024: Inorganic Chemistry
https://read.qxmd.com/read/38141358/characterization-of-two-human-induced-pluripotent-stem-cell-lines-derived-from-batten-disease-patient-fibroblasts-harbouring-cln5-mutations
#24
JOURNAL ARTICLE
Marisa Ofrim, Daniel Little, Mina Nazari, Christopher J Minnis, Michael J Devine, Sara E Mole, Paul Gissen, Maëlle Lorvellec
The neuronal ceroid lipofuscinoses (NCLs) are a group of common inherited neurodegenerative disorders of childhood. All forms of NCLs are life-limiting with no curative treatments. Most of the 13 NCL genes encode proteins residing in endolysosomal pathways, such as CLN5, a potential lysosomal enzyme. Two induced pluripotent stem cell lines (hiPSCs) were generated from skin fibroblasts of CLN5 disease patients via non-integrating Sendai virus reprogramming. They demonstrate typical stem cell morphology, express pluripotency markers, exhibit trilineage differentiation potential and also successfully differentiate into neurons...
December 18, 2023: Stem Cell Research
https://read.qxmd.com/read/38139295/molecular-mechanisms-linking-diabetes-with-increased-risk-of-thrombosis
#25
REVIEW
Lucy Batten, Thozhukat Sathyapalan, Timothy M Palmer
This review will provide an overview of what is currently known about mechanisms linking poor glycaemic control with increased thrombotic risk. The leading causes of death in people with diabetes are strokes and cardiovascular disease. Significant morbidity is associated with an increased risk of thrombosis, resulting in myocardial infarction, ischaemic stroke, and peripheral vascular disease, along with the sequelae of these events, including loss of functional ability, heart failure, and amputations. While the increased platelet activity, pro-coagulability, and endothelial dysfunction directly impact this risk, the molecular mechanisms linking poor glycaemic control with increased thrombotic risk remain unclear...
December 14, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/38116252/adolescent-cancer-prevention-in-rural-pediatric-primary-care-settings-in-the-united-states-a-scoping-review
#26
JOURNAL ARTICLE
Grace W Ryan, Paula Whitmire, Annabelle Batten, Melissa Goulding, Becky Baltich Nelson, Stephenie C Lemon, Lori Pbert
Adolescence is a critical period for establishing habits and engaging in health behaviors to prevent future cancers. Rural areas tend to have higher rates of cancer-related morbidity and mortality as well as higher rates of cancer-risk factors among adolescents. Rural primary care clinicians are well-positioned to address these risk factors. Our goal was to identify existing literature on adolescent cancer prevention in rural primary care and to classify key barriers and facilitators to implementing interventions in such settings...
December 2023: Preventive Medicine Reports
https://read.qxmd.com/read/38109433/correction-low-serum-albumin-and-the-risk-of-hospitalization-in-covid-19-infection-a-retrospective-case-control-study
#27
Roshan Acharya, Dilli Poudel, Aakash Patel, Evan Schultz, Michael Bourgeois, Rishi Paswan, Scott Stockholm, Macylen Batten, Smita Kafle, Amanda Atkinson, Hafiz Sarwar
[This corrects the article DOI: 10.1371/journal.pone.0250906.].
2023: PloS One
https://read.qxmd.com/read/38083181/composite-biomarker-image-for-advanced-visualization-in-histopathology
#28
JOURNAL ARTICLE
Abubakr Shafique, Morteza Babaie, Ricardo Gonzalez, Adrian Batten, Soma Sikdar, H R Tizhoosh
Immunohistochemistry (IHC) biomarkers are essential tools for reliable cancer diagnosis and subtyping. It requires cross-staining comparison among Whole Slide Images (WSIs) of IHCs and hematoxylin and eosin (H&E) slides. Currently, pathologists examine the visually co-localized areas across IHC and H&E glass slides for a final diagnosis, which is a tedious and challenging task. Moreover, visually inspecting different IHC slides back and forth to analyze local co-expressions is inherently subjective and prone to error, even when carried out by experienced pathologists...
July 2023: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://read.qxmd.com/read/38074746/suicide-risk-communication-and-intervention-preferences-for-veterans-and-service-members
#29
JOURNAL ARTICLE
Abby E Beatty, John S Richardson, Sonja V Batten, Steven Weintraub, Karen Hogan, Keith Hotle
Despite the investment of public resources to fight staggering suicide rates among veterans, we know little about how veterans and service members in crisis communicate suicidal ideations, and what interventions they are willing to receive. We aim to identify communication and suicide intervention preferences of veterans and service members in times of crisis. Descriptive statistics were used to explore veterans communication of suicidal ideations. While 89.9% of participants indicated they were willing to speak to someone when having thoughts of suicide, less than 26% of participants indicated they were willing to bring up their thoughts with a crisis line or veterans organization...
2023: Frontiers in Public Health
https://read.qxmd.com/read/38055807/mechanistic-insights-into-s-depalmitolyse-activity-of-cln5-protein-linked-to-neurodegeneration-and-batten-disease-a-qm-mm-study
#30
JOURNAL ARTICLE
Yuvraj Dangat, Marek Freindorf, Elfi Kraka
Ceroid lipofuscinosis neuronal protein 5 (Cln5) is encoded by the CLN5 gene. The genetic variants of this gene are associated with the CLN5 form of Batten disease. Recently, the first crystal structure of Cln5 was reported. Cln5 shows cysteine palmitoyl thioesterase S -depalmitoylation activity, which was explored via fluorescent emission spectroscopy utilizing the fluorescent probe DDP-5. In this work, the mechanism of the reaction between Cln5 and DDP-5 was studied computationally by applying a QM/MM methodology at the ωB97X-D/6-31G(d,p):AMBER level...
December 6, 2023: Journal of the American Chemical Society
https://read.qxmd.com/read/38049626/first-in-man-study-of-intravitreal-tripeptidyl-peptidase-1-for-cln2-retinopathy
#31
JOURNAL ARTICLE
James Wawrzynski, Ana Rodriguez Martinez, Dorothy Ann Thompson, Dipak Ram, Richard Bowman, Rebecca Whiteley, Chin Gan, Louise Harding, Amanda Mortensen, Philippa Mills, Paul Gissen, Robert H Henderson
BACKGROUND/OBJECTIVES: CLN2 Batten Disease is a fatal neurodegenerative condition of childhood associated with retinal dystrophy and blindness. Intracerebroventricular infusion of rhTPP1 greatly slows the rate of neurodegenerative decline but not retinopathy. Intravitreal rhTPP1 is known to slow retinal degeneration in a canine model of CLN2. We report a first-in-man controlled clinical trial of intravitreal rhTPP1 for CLN2 associated retinal dystrophy. SUBJECTS/METHODS: 8 children aged 5-9 with CLN2 Batten Disease were prospectively enroled...
December 4, 2023: Eye
https://read.qxmd.com/read/38029629/overlap-between-ophthalmology-and-psychiatry-a-narrative-review-focused-on-congenital-and-inherited-conditions
#32
REVIEW
Chelsea Kiely, Konstantinos A A Douglas, Vivian Paraskevi Douglas, John B Miller, Paulo Lizano
A number of congenital and inherited diseases present with both ocular and psychiatric features. The genetic inheritance and phenotypic variants play a key role in disease severity. Early recognition of the signs and symptoms of those disorders is critical to earlier intervention and improved prognosis. Typically, the associations between these two medical subspecialties of ophthalmology and psychiatry are poorly understood by most practitioners so we hope to provide a narrative review to improve the identification and management of these disorders...
January 2024: Psychiatry Research
https://read.qxmd.com/read/38012786/application-of-patient-derived-induced-pluripotent-stem-cells-and-organoids-in-inherited-retinal-diseases
#33
REVIEW
Yuqin Liang, Xihao Sun, Chunwen Duan, Shibo Tang, Jiansu Chen
Inherited retinal diseases (IRDs) can induce severe sight-threatening retinal degeneration and impose a considerable economic burden on patients and society, making efforts to cure blindness imperative. Transgenic animals mimicking human genetic diseases have long been used as a primary research tool to decipher the underlying pathogenesis, but there are still some obvious limitations. As an alternative strategy, patient-derived induced pluripotent stem cells (iPSCs), particularly three-dimensional (3D) organoid technology, are considered a promising platform for modeling different forms of IRDs, including retinitis pigmentosa, Leber congenital amaurosis, X-linked recessive retinoschisis, Batten disease, achromatopsia, and best vitelliform macular dystrophy...
November 27, 2023: Stem Cell Research & Therapy
https://read.qxmd.com/read/37992454/defining-pathologic-upstaging-in-ct1b-esophageal-cancer-should-we-consider-neoadjuvant-therapy
#34
JOURNAL ARTICLE
David R Mann, Kathryn E Engelhardt, Barry C Gibney, Macelyn E Batten, Eric C Klipsch, Rupak Mukherjee, Ian C Bostock
INTRODUCTION: Neoadjuvant chemoradiation therapy (NCRT) for cT1b esophageal cancer is not recommended despite the risk of pathologic upstaging with increased depth of penetration. We aimed to (1) define the rate of and factors associated with pathologic upstaging, (2) describe current trends in treatments, and (3) compare overall survival (OS) with and without NCRT for surgically resected cT1b lesions. METHODS: We used the 2020 National Cancer Database to identify patients with cT1b N0 esophageal cancer with or without pathologic upstaging who underwent removal of their tumor...
November 21, 2023: Journal of Surgical Research
https://read.qxmd.com/read/37971348/the-authors-reply
#35
JOURNAL ARTICLE
Nicholas A Hakes, Vaishali Mittal, David C Magnus, Jason N Batten
No abstract text is available yet for this article.
December 1, 2023: Critical Care Medicine
https://read.qxmd.com/read/37942487/efficacy-of-dual-intracerebroventricular-and-intravitreal-cln5-gene-therapy-in-sheep-prompts-the-first-clinical-trial-to-treat-cln5-batten-disease
#36
JOURNAL ARTICLE
Samantha J Murray, Martin P Wellby, Graham K Barrell, Katharina N Russell, Ashley R Deane, John R Wynyard, Steven J Gray, David N Palmer, Nadia L Mitchell
Mutations in the CLN5 gene cause the fatal, pediatric, neurodegenerative disease CLN5 neuronal ceroid lipofuscinosis. Affected children suffer progressive neuronal loss, visual failure and premature death. Presently there is no treatment. This study evaluated dual intracerebroventricular (ICV) and intravitreal (IVT) administration of a self-complementary adeno-associated viral vector encoding ovine CLN5 (scAAV9/oCLN5) into CLN5 affected sheep (CLN5-/- ) at various disease stages. CLN5 disease progression was slowed in pre-symptomatic sheep who received a moderate dose of scAAV9/oCLN5, whilst a higher ICV dose treatment in early and advanced symptomatic animals delayed or halted disease progression...
2023: Frontiers in Pharmacology
https://read.qxmd.com/read/37932327/acidified-drinking-water-improves-motor-function-prevents-tremors-and-changes-disease-trajectory-in-cln2-r207x-mice-a-model-of-late-infantile-batten-disease
#37
JOURNAL ARTICLE
Attila D Kovács, Jose L Gonzalez Hernandez, David A Pearce
Batten disease is a group of mostly pediatric neurodegenerative lysosomal storage disorders caused by mutations in the CLN1-14 genes. We have recently shown that acidified drinking water attenuated neuropathological changes and improved motor function in the Cln1R151X and Cln3-/- mouse models of infantile CLN1 and juvenile CLN3 diseases. Here we tested if acidified drinking water has beneficial effects in Cln2R207X mice, a nonsense mutant model of late infantile CLN2 disease. Cln2R207X mice have motor deficits, muscle weakness, develop tremors, and die prematurely between 4 and 6 months of age...
November 6, 2023: Scientific Reports
https://read.qxmd.com/read/37923119/determinants-of-developability-and-evolvability-of-synthetic-miniproteins-as-ligand-scaffolds
#38
JOURNAL ARTICLE
Adam McConnell, Sun Li Batten, Benjamin J Hackel
Binding ligands empower molecular therapeutics and diagnostics. Despite an array of protein scaffolds engineered for binding, the biophysical elements that drive developability and evolvability are not fully understood. In particular, engineering novel function while maintaining biophysical integrity within the context of small, single-domain proteins is challenged by integration of the structural framework and the evolved binding site. Miniproteins present a challenge to our limits of protein engineering capability and provide advantages in physiological targeting, modularity for multi-functional constructs, and unique binding modes...
November 1, 2023: Journal of Molecular Biology
https://read.qxmd.com/read/37919814/disulfiram-induced-mania-a-case-report
#39
JOURNAL ARTICLE
Jessica Batten, Vijay Gorrepati, Tawny Smith, David Spelber, Jorge Almeida
No abstract text is available yet for this article.
November 2, 2023: Bipolar Disorders
https://read.qxmd.com/read/37891564/assessing-implementation-fidelity-of-an-on-site-pharmacist-intervention-within-australian-residential-aged-care-facilities-a-mixed-methods-study
#40
JOURNAL ARTICLE
Miranda Batten, Jane Koerner, Sam Kosari, Mark Naunton, Joanne Lewis, Karen Strickland
BACKGROUND: An on-site pharmacist (OSP) intervention was implemented which sought to improve medication management within residential aged care facilities (RACFs) in the Australian Capital Territory, Australia. The objectives of this mixed methods study were to evaluate the implementation fidelity of the OSP intervention and to determine the moderating factors which influenced delivery of this intervention. METHODS: This convergent parallel mixed methods study was underpinned by Hasson's conceptual framework for implementation fidelity...
October 27, 2023: BMC Health Services Research
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