Digital Commons Network^™

Implicating Genes, Pleiotropy, And Sexual Dimorphism At Blood Lipid Loci Through Multi-Ancestry Meta-Analysis, Stavroula Kanoni, Adam E. Locke, E Warwick Daw, Mary F. Feitosa, Mary K. Wojczynski, Bernhard Banas, Carsten A. Boger, Bettina Jung, D C. Rao, Michael A. Province, Et Al.

2020-Current year OA Pubs

No abstract provided.

Clinical And Molecular Characteristics Of A Novel Rare De Novo Variant In Ppp2ca In A Patient With A Developmental Disorder, Autism, And Epilepsy, Iris Verbinnen, Sara S Procknow, Lisa Lenaerts, Sara Reynhout, Aujan Mehregan, Chris Ulens, Veerle Janssens, Katherine A King

2020-Current year OA Pubs

PP2A-related (neuro) developmental disorders are a family of genetic diseases caused by a heterozygous alteration in one of several genes encoding a subunit of type 2A protein phosphatases. Reported affected genes, so far, are

Donor Chimerism And Immune Reconstitution Following Haploidentical Transplantation In Sickle Cell Disease, Yaya Chu, Brenda Grossman, Shalini Shenoy, Et Al

2020-Current year OA Pubs

INTRODUCTION: We previously reported the initial results of a phase II multicenter transplant trial using haploidentical parental donors for children and aolescents with high-risk sickle cell disease achieving excellent survival with exceptionally low rates of graft-versus-host disease and resolution of sickle cell disease symptoms. To investigate human leukocyte antigen (HLA) sensitization, graft characteristics, donor chimerism, and immune reconstitution in these recipients.

METHODS: CD34 cells were enriched using the CliniMACS

RESULTS: HLA antibodies were detected in 7 of 11 (64%) evaluable patients but rarely were against donor antigens. Myeloid engraftment was rapid (100%) at a median of 9 days. At 30 …

Expression Variation Of Ogg1 And Hprt Gene And Dna Damage In Arsenic Exposed Industrial Workers, Zertashia Akram, Ishrat Mahjabeen, Muhammad Umair, Muhammad Fahim, Mahmood Akhter Kayani, Lulu Fatima, Malik Waqar Ahmad, Sarwat Jahan, Tayyaba Afsar, Ali Almajwal, Nawaf W. Alruwaili, Iftikhar Ali Khawar, Suhail Razak

2020-Current year OA Pubs

Arsenic exposure alters redox balance, induces DNA damage, and deregulates many genes. OGG1 gene involved in base repair mechanism, for excision of 8-oxoguanine (8-oxoG) from DNA formed as a result of accumulation of ROS in cell. HPRT gene encode transferase enzymes involved in purine recycling mechanism. The main focus of the study was to evaluate the expression variation in HPRT, OGG1 gene expression, and DNA damage of industrial workers. Blood samples of 300 occupational workers were collected from welding, brick kiln, furniture, pesticide, and paint industry (n = 60/industry) to evaluate the expression variation in HPRT, OGG1 gene expression, and …

A Conformational Variant Of P53 (U-P53az) As Blood-Based Biomarker For The Prediction Of The Onset Of Symptomatic Alzheimer's Disease, S Piccirella, L Van Neste, C Fowler, C L Masters, J Fripp, J D Doecke, C Xiong, D Uberti, P Kinnon

2020-Current year OA Pubs

BACKGROUND: Ongoing research seeks to identify blood-based biomarkers able to predict onset and progression of Alzheimer's disease (AD).

OBJECTIVE: The unfolded conformational variant of p53 (U-p53AZ), previously observed in AD individuals, was evaluated in plasma samples from individuals participating in the Australian Imaging, Biomarkers and Lifestyle (AIBL) cohort for diagnostic and prognostic assessment, validated on a neuropsychological-based diagnosis, over the course of six years.

DESIGN: Retrospective Longitudinal Prognostic biomarker study.

SETTING: Single-center study based on the AIBL cohort.

PARTICIPANTS: 482 participants of the AIBL cohort, aged 60-85 years, without uncontrolled diabetes, vascular disease, severe depression or psychiatric illnesses.

MEASUREMENTS: The …

Effects Of Substrate Types On Nitrogen Removal Efficacy And Growth Of Canna Indica L., Arunothai Jampeetong, Pakawat Janyasupab

Applied Environmental Research

Constructed wetlands (CWs), a cost effective technology for wastewater treatment, consist of substrates and wetland plants, which should be selected carefully to gain highest treatment efficiency. However, studies on plant growth and responses to different types of substrates are very few. This study aims to assess the effects of substrate types on growth and root morphology of Canna indica L. and nitrogen (N) removal. Twenty-four similar sized approximately 1 month old C. indica plants were selected and grown on different substrates (gravel, pumice and biochar). All plants were supplied with a standard growth medium to which 14 mg L-1 NH4+, …

Petrogenic And Biogenic Inputs Of N-Alkanes Along Shoreline Of The Caspian Sea In The Mazandaran Province, North Of Iran, Seyed Raheb Hosseini Bizaki, Ahmad Reza Rabbani, Alireza Riyahi Bakhtiari, Mitra Cheraghi, Parisa Babaie

Applied Environmental Research

The Caspian Sea is the largest lake in the world and is facing an increasing risk of contamination. Sea-based and land-based hydrocarbons inputs are the most critical pollutants of the Caspian Sea. In the present study, n-alkanes and related diagnostic ratios were used to identify the sources of hydrocarbon contaminants in surface sediments along the southern coastal area of the Caspian Sea in Mazandaran province. 27 surface sediment samples were collected from a depth of 5 meters under sea level. Contaminant’s compositions were extracted by Soxhlet apparatus and analyzed by Gas Chromatography-Mass Spectrometry. According to the results, the total …

Risk Assessment Of Total Mercury (T-Hg) In Commercial Seafood Marketed In Bangkok, Thailand, Irwan Ramadhan Ritonga, Sujaree Bureekul, Penjai Sompongchaiyakul

Applied Environmental Research

Seafood is recognized as the high protein source of human consumption. However, it is hampered by mercury contamination. The objectives of this study are to determine total mercury (T-Hg) levels in edible portions of commercial seafood available in Bangkok’s supermarkets, and to evaluate the potential risks from mercury through seafood consumption. Total 32 species, including 22 fish, 4 cephalopod and 6 shellfish, were purchased from super-markets. Fish samples were dissected in 3 parts comprised of flesh, gill and viscera. While, cephalopod and shellfish were separated for edible tissues. The samples were digested in hot acid and were determined using cold-vapor …

Prediction Of Groundwater Quality Index In The Selected Divisions Of Srikakulam Using Artificial Neural Networks Approach, Santhosh Kumar Nadikatla, Mushini Venkata Subbarao, M.P.S. Murali Krishna

Applied Environmental Research

Applicability of artificial neural network (ANN) modelling in predicting the water quality index (WQI) and in turn to ascertain the suitability of the water for human consumption has been presented in the paper. In the light of the present study, seventy-nine (79) groundwater samples were collected from two mandals (divisions) Veeraghattam (VGT) and Palakonda (PLKD) and analyzed for physicochemical parameters during the pre-monsoon and post-monsoon seasons of 2015 and 2016. In computing the WQI, physicochemical parameters such as  pH, EC, TDS, TH, Ca, Mg, chlorine, fluoride, nitrite, DO and TA have been considered. From the results it was found that …

Groundwater Quality Assessment Using Groundwater Quality Index And Multivariate Statistical Methods And Human Health Risk Assessment In A Coastal Region Of The Vietnamese Mekong Delta, Nguyen Thanh Giao, Phan Kim Anh, Huynh Thi Hong Nhien

Applied Environmental Research

This study aimed to evaluate the suitability of groundwater for drinking purposes and assess the associated human health risks for different age groups in a coastal province of Mekong Delta, Vietnam. Twenty groundwater samples were collected in Soc Trang Province, and various water quality parameters were analyzed. The data were employed to calculate entropy-weighted groundwater quality index (EWQI), principal component analysis (PCA), cluster analysis (CA), and non-carcinogenic and carcinogenic risks for adult and children health. The results revealed that groundwater in some locations, especially in GW19, was polluted by hardness, total dissolved solids, NH4+, Cl-, Fe, total coliform, and E. …

Reciprocal Regulation Of Mitofusin 2-Mediated Mitophagy And Mitochondrial Fusion By Different Pink1 Phosphorylation Events, Jiajia Li, Xiawei Dang, Antonietta Franco, Gerald W Dorn

2020-Current year OA Pubs

Mitochondrial repair is essential to metabolic homeostasis. Outer mitochondrial membrane mitofusin (MFN) proteins orchestrate mitochondrial fusion that opposes mitochondrial degeneration caused by senescence. Depending upon physiological context, MFN2 can either mediate mitochondrial fusion or recruit cytosolic Parkin to initiate mitophagic elimination. Because it is not clear how these events are counter-regulated we engineered and expressed MFN2 mutants that mimic phosphorylated or non-phosphorylatable MFN2 at its PINK1 phosphorylation sites: T111, S378, and S442. By interrogating mitochondrial fusion, polarization status, and Parkin binding/mitophagy as a function of inferred MFN2 phosphorylation, we discovered that individual MFN2 phosphorylation events act as a biological "bar-code", …

Understanding The Contribution Of Metabolism To Mycobacterium Tuberculosis Drug Tolerance, Amanda N Samuels, Erin R Wang, Gregory A Harrison, Joy C Valenta, Christina L Stallings

2020-Current year OA Pubs

Treatment of

Analysis Of Neuronal Injury Transcriptional Response Identifies Ctcf And Yy1 As Co-Operating Factors Regulating Axon Regeneration, Oshri Avraham, Jimmy Le, Kathleen Leahy, Tiandao Li, Guoyan Zhao, Valeria Cavalli

2020-Current year OA Pubs

Injured sensory neurons activate a transcriptional program necessary for robust axon regeneration and eventual target reinnervation. Understanding the transcriptional regulators that govern this axon regenerative response may guide therapeutic strategies to promote axon regeneration in the injured nervous system. Here, we used cultured dorsal root ganglia neurons to identify pro-regenerative transcription factors. Using RNA sequencing, we first characterized this neuronal culture and determined that embryonic day 13.5 DRG (eDRG) neurons cultured for 7 days are similar to e15.5 DRG neurons

A Role For An Htlv-1 Vaccine?, Lee Ratner

2020-Current year OA Pubs

HTLV-1 is a global infection with 5-20 million infected individuals. Although only a minority of infected individuals develop myelopathy, lymphoproliferative malignancy, or inflammatory disorders, infection is associated with immunosuppression and shorter survival. Transmission of HTLV-1 is through contaminated blood or needles, mother-to-child exposure through breast-feeding, and sexual intercourse. HTLV-1 is a delta retrovirus that expresses immunogenic Gag, Envelope, TAX, and Hbz proteins. Neutralizing antibodies have been identified directed against the surface envelope protein, and cytotoxic T-cell epitopes within TAX have been characterized. Thus far, there have been few investigations of vaccines directed against each of these proteins, with limited responses, …

Toward A Fully Implantable Ecosystem For Adaptive Neuromodulation In Humans: Preliminary Experience With The Cortec Braininterchange Device In A Canine Model, Gerwin Schalk, Samuel Worrell, Filip Mivalt, Alexander Belsten, Inyong Kim, Jonathan M Morris, Dora Hermes, Bryan T Klassen, Nathan P Staff, Steven Messina, Timothy Kaufmann, Jörn Rickert, Peter Brunner, Gregory A Worrell, Kai J Miller

2020-Current year OA Pubs

This article describes initial work toward an ecosystem for adaptive neuromodulation in humans by documenting the experience of implanting CorTec's BrainInterchange (BIC) device in a beagle canine and using the BCI2000 environment to interact with the BIC device. It begins with laying out the substantial opportunity presented by a useful, easy-to-use, and widely available hardware/software ecosystem in the current landscape of the field of adaptive neuromodulation, and then describes experience with implantation, software integration, and post-surgical validation of recording of brain signals and implant parameters. Initial experience suggests that the hardware capabilities of the BIC device are fully supported by …

The Role Of Endogenous Opioid Neuropeptides In Neurostimulation-Driven Analgesia, Susan T Lubejko, Robert D Graham, Giulia Livrizzi, Robert Schaefer, Matthew R Banghart, Meaghan C Creed

2020-Current year OA Pubs

Due to the prevalence of chronic pain worldwide, there is an urgent need to improve pain management strategies. While opioid drugs have long been used to treat chronic pain, their use is severely limited by adverse effects and abuse liability. Neurostimulation techniques have emerged as a promising option for chronic pain that is refractory to other treatments. While different neurostimulation strategies have been applied to many neural structures implicated in pain processing, there is variability in efficacy between patients, underscoring the need to optimize neurostimulation techniques for use in pain management. This optimization requires a deeper understanding of the mechanisms …

Systematic Review With Meta-Analysis: Safety And Effectiveness Of Combining Biologics And Small Molecules In Inflammatory Bowel Disease, Quazim A Alayo, Osama Altayar, Matthew A Ciorba, Deborah Thomas, Parakkal Deepak, Et Al.

2020-Current year OA Pubs

BACKGROUND: Combining biologics and small molecules could potentially overcome the plateau of drug efficacy in inflammatory bowel disease (IBD). We conducted a systematic review and meta-analysis to assess the safety and effectiveness of dual biologic therapy (DBT), or small molecule combined with a biologic therapy (SBT) in IBD patients.

METHODS: We searched MEDLINE, EMBASE, Scopus, Web of Science, Cochrane Database of Systematic Reviews, and Clinical trials.gov until November 3, 2020, including studies with 2 or more IBD patients on DBT or SBT. Main outcome was safety assessed as pooled rates of adverse events (AEs) and serious AEs (SAEs) for each …

All-Cause And In-Hospital Mortality After Aspirin Use In Patients Hospitalized With Covid-19: A Systematic Review And Meta-Analysis, Nischit Baral, Joshua D Mitchell, Pramod K Savarapu, Maxwell Akanbi, Bandana Acharya, Soumya Kambalapalli, Amith Seri, Krishna P Bashyal, Arvind Kunadi, Niranjan Ojha, Annabelle Santos Volgman, Tripti Gupta, Timir K Paul

2020-Current year OA Pubs

BACKGROUND: With the results of the largest randomized controlled trial (RECOVERY) and the most extensive retrospective cohort study on coronavirus disease 2019 (COVID-19) recently published, we performed a meta-analysis on the association of aspirin with mortality of COVID-19. We aimed to investigate the role of aspirin in COVID-19 hospitalizations.

MATERIALS AND METHODS: We searched PubMed, EMBASE and Cochrane databases for studies from 1 January 2020 until 20 July 2022, that compared aspirin versus non-aspirin use in hospitalized COVID-19 patients. We excluded case reports, review articles and studies on non-hospitalized COVID-19 infections. We used the inverse variance method and random effects …

Antibodies In Healthcare Personnel Following Severe Acute Respiratory Syndrome Coronavirus Virus 2 (Sars-Cov-2) Infection, Rachel E Bosserman, Christopher W Farnsworth, Caroline A O'Neil, Candice Cass, Daniel Park, Claire Ballman, Meghan A Wallace, Emily Struttmann, Henry Stewart, Olivia Arter, Kate Peacock, Victoria J Fraser, Philip J Budge, Margaret A Olsen, Carey-Ann D Burnham, Hilary M Babcock, Jennie H Kwon, Cdc Prevention Epicenters

2020-Current year OA Pubs

In a prospective cohort of healthcare personnel (HCP), we measured severe acute respiratory syndrome coronavirus virus 2 (SARS-CoV-2) nucleocapsid IgG antibodies after SARS-CoV-2 infection. Among 79 HCP, 68 (86%) were seropositive 14-28 days after their positive PCR test, and 54 (77%) of 70 were seropositive at the 70-180-day follow-up. Many seropositive HCP (95%) experienced an antibody decline by the second visit.

Creation Of Philadelphia Chromosome By Crispr/Cas9-Mediated Double Cleavages On Bcr And Abl1 Genes As A Model For Initial Event In Leukemogenesis, Minori Tamai, Kenji Kamimoto, Kohei Omachi, Et Al.

2020-Current year OA Pubs

The Philadelphia (Ph) chromosome was the first translocation identified in leukemia. It is supposed to be generated by aberrant ligation between two DNA double-strand breaks (DSBs) at the BCR gene located on chromosome 9q34 and the ABL1 gene located on chromosome 22q11. Thus, mimicking the initiation process of translocation, we induced CRISPR/Cas9-mediated DSBs simultaneously at the breakpoints of the BCR and ABL1 genes in a granulocyte-macrophage colony-stimulating factor (GM-CSF) dependent human leukemia cell line. After transfection of two single guide RNAs (sgRNAs) targeting intron 13 of the BCR gene and intron 1 of the ABL1 gene, a factor-independent subline was …

Estimation Of Intrafamilial Dna Contamination In Family Trio Genome Sequencing Using Deviation From Mendelian Inheritance, Christopher J Yoon, Brian Wiley, Malachi Griffith, Obi L Griffith, Et Al.

2020-Current year OA Pubs

With the increasing number of sequencing projects involving families, quality control tools optimized for family genome sequencing are needed. However, accurately quantifying contamination in a DNA mixture is particularly difficult when genetically related family members are the sources. We developed TrioMix, a maximum likelihood estimation (MLE) framework based on Mendel's law of inheritance, to quantify DNA mixture between family members in genome sequencing data of parent-offspring trios. TrioMix can accurately deconvolute any intrafamilial DNA contamination, including parent-offspring, sibling-sibling, parent-parent, and even multiple familial sources. In addition, TrioMix can be applied to detect genomic abnormalities that deviate from Mendelian inheritance patterns, …

A Comparison Of 64cu-Labeled Bi-Terminally Pegylated A20fmdv2 Peptides Targeting Integrin Ανβ6, Truc T Huynh, Sreeja Sreekumar, Cedric Mpoy, Buck E Rogers

2020-Current year OA Pubs

Expression of epithelial-specific integrin α

Hand Transplants, Daily Functioning, And The Human Capacity For Limb Regeneration, Susan M Fitzpatrick, David Brogan, Prateek Grover

2020-Current year OA Pubs

Unlike some of our invertebrate and vertebrate cousins with the capacity to regenerate limbs after traumatic loss, humans do not have the ability to regrow arms or legs lost to injury or disease. For the millions of people worldwide who have lost a limb after birth, the primary route to regaining function and minimizing future complications is

Epithelial Abnormalities In The Small Intestine Of Zambian Children With Stunting, Chola Mulenga, Sanja Sviben, Kanta Chandwe, Beatrice Amadi, Violet Kayamba, James A J Fitzpatrick, Victor Mudenda, Paul Kelly

2020-Current year OA Pubs

BACKGROUND: Environmental enteropathy (EE) contributes to impaired linear growth (stunting), in millions of children worldwide. We have previously reported that confocal laser endomicroscopy (CLE) shows fluorescein leaking from blood to gut lumen

METHODS: We performed confocal laser endomicroscopy (CLE) in 75 children and collected intestinal biopsies for histology in 91 children. CLE videos were evaluated, employing the Watson score to determine severity of leakiness. Morphometry was carried out on well-orientated mucosa and 3 biopsies were examined by electron microscopy.

RESULTS: Confocal laser endomicroscopy demonstrated substantial leakage from circulation to gut lumen in 73 (97%) children. Histology consistently showed characteristic changes …

Functional And Phylogenetic Characterization Of Bacteria In Bovine Rumen Using Fractionation Of Ruminal Fluid, Ruth Hernández, Maryam Chaib De Mares, Hugo Jimenez, Alejandro Reyes, Alejandro Caro-Quintero

2020-Current year OA Pubs

Cattle productivity depends on our ability to fully understand and manipulate the fermentation process of plant material that occurs in the bovine rumen, which ultimately leads to the improvement of animal health and increased productivity with a reduction in environmental impact. An essential step in this direction is the phylogenetic and functional characterization of the microbial species composing the ruminal microbiota. To address this challenge, we separated a ruminal fluid sample by size and density using a sucrose density gradient. We used the full sample and the smallest fraction (5%), allowing the enrichment of bacteria, to assemble metagenome-assembled genomes (MAGs). …

Further Evidence That Inhibition Of Neuronal Voltage-Gated Calcium Channels Contributes To The Hypnotic Effect Of Neurosteroid Analogue, 3Β-Oh, Tamara Timic Stamenic, Francesca M Manzella, Stefan Maksimovic, Kathiresan Krishnan, Douglas F Covey, Vesna Jevtovic-Todorovic, Slobodan M Todorovic

2020-Current year OA Pubs

We recently reported that a neurosteroid analogue with T-channel-blocking properties (3β,5β,17β)-3-hydroxyandrostane-17-carbonitrile (3β-OH), induced hypnosis in rat pups without triggering neuronal apoptosis. Furthermore, we found that the inhibition of the Ca

Gardnerella Exposures Alter Bladder Gene Expression And Augment Uropathogenic Escherichia Coli Urinary Tract Infection In Mice, Nicole M Gilbert, Valerie P O'Brien, Chevaughn Waller, Ekatherina Batourina, Cathy Lee Mendelsohn, Amanda L Lewis

2020-Current year OA Pubs

The anaerobic actinobacterium

Altered Peroxisome Proliferator-Activated Receptor Alpha Signaling In Variably Diseased Peripheral Arterial Segments, Connor Engel, Rodrigo Meade, Nikolai Harroun, Amanda Penrose, Mehreen Shafqat, Xiaohua Jin, Gayan Desilva, Clay Semenkovich, Mohamed Zayed

2020-Current year OA Pubs

OBJECTIVE: Peripheral atherosclerosis that accumulates in the extracranial carotid and lower extremity arteries can lead to significant morbidity and mortality. However, atherosclerotic disease progression is often not homogenous and is accelerated by diabetes. We previously observed increased phospholipid content in minimally (Min)-diseased arterial segments compared to maximally (Max)-diseased segments. Since Peroxisome Proliferator-Activated Receptor alpha (PPARα) is a key regulator of lipid metabolism, we hypothesized that it may have differential expression and signaling in Min vs. Max-diseased peripheral arterial segments.

METHODS: Eighteen patients who underwent carotid endarterectomy (CEA), and 34 patients who underwent major lower extremity amputation were prospectively enrolled into …

Diabetic Retinopathy As A Predictor Of Cardiovascular Morbidity And Mortality In Subjects With Type 2 Diabetes, Joan Barrot, Jordi Real, Bogdan Vlacho, Pedro Romero-Aroca, Rafael Simó, Didac Mauricio, Manel Mata-Cases, Esmeralda Castelblanco, Xavier Mundet-Tuduri, Josep Franch-Nadal

2020-Current year OA Pubs

This study aimed to evaluate the predictive value of diabetic retinopathy (DR) and its stages with the incidence of major cardiovascular events and all-cause mortality in type 2 diabetes mellitus (T2DM) persons in our large primary healthcare database from Catalonia (Spain). A retrospective cohort study with pseudo-anonymized routinely collected health data from SIDIAP was conducted from 2008 to 2016. We calculated incidence rates of major cardiovascular events [coronary heart disease (CHD), stroke, or both-macrovascular events] and all-cause mortality for subjects with and without DR and for different stages of DR. The proportional hazards regression analysis was done to assess the …

The Longitudinal Impact Of Maternal Depression And Neighborhood Social Context On Adolescent Mental Health, Daphne Lew, Hong Xian, Travis Loux, Enbal Shacham, Darcell Scharff

2020-Current year OA Pubs

PURPOSE: Maternal depression and neighborhood characteristics are known to be associated both with each other and with adolescent mental health outcomes. These exposures are also subject to change throughout the life of a child. This study sought to identify multi-trajectories of maternal depression (MD) and self-reported neighborhood collective efficacy (NCE) over a 12-year period and determine whether these trajectories are differentially associated with adolescent mental health.

METHODS: Data from the Fragile Families and Child Wellbeing study, a longitudinal cohort study of new parents and their children, were used. Maternal depression (MD) and self-reported NCE when the child was 3, 5, …