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  1. Article ; Online: Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report.

    Donabedian, Patrick L / Walia, Jessica Y / Agarwal-Sinha, Swati

    BMC ophthalmology

    2022  Volume 22, Issue 1, Page(s) 100

    Abstract: Background: CHARGE syndrome is a relatively common cause of deafness and blindness resulting from failure to form the primordia of specific organs due to deficient contribution of neural crest cell derivatives. The majority of CHARGE syndrome cases are ... ...

    Abstract Background: CHARGE syndrome is a relatively common cause of deafness and blindness resulting from failure to form the primordia of specific organs due to deficient contribution of neural crest cell derivatives. The majority of CHARGE syndrome cases are caused by heterozygous mutations in CHD7 on chromosome 8q21. Those with CHARGE syndrome without CHD7 mutation typically do not have an identified genetic defect. 7q11.23 duplication syndrome is associated with mild facial dysmorphism, heart defects, language delay, and autism spectrum disorder. In the current literature, 7q11.23 duplication has not been associated with CHARGE syndrome, retinochoroidal colobomas, or significant ear abnormalities.
    Case presentation: We describe a patient with 7q11.23 duplication syndrome and clinical CHARGE syndrome with no variant in CHARGE-associated genes.
    Conclusions: This case highlights the still incomplete understanding of the pathogenesis of CHARGE syndrome and raises the possibility of a dose-sensitive effect of genes in the 7q11.23 critical region on neural crest differentiation and fate.
    MeSH term(s) Autism Spectrum Disorder ; CHARGE Syndrome/complications ; CHARGE Syndrome/diagnosis ; CHARGE Syndrome/genetics ; Coloboma/diagnosis ; Coloboma/genetics ; DNA-Binding Proteins/genetics ; Humans ; Mutation
    Chemical Substances DNA-Binding Proteins
    Language English
    Publishing date 2022-03-04
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 2050436-6
    ISSN 1471-2415 ; 1471-2415
    ISSN (online) 1471-2415
    ISSN 1471-2415
    DOI 10.1186/s12886-022-02298-x
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  2. Article: Cecal Metastasis of Clear Cell Renal Cell Carcinoma After Previous Nephrectomy.

    Lin, Rick Y / Shen, Steve / Donabedian, Patrick L / Kiani, Calvin / Kresak, Jesse L / Chatzkel, Jonathan A / Dakhoul, Lara

    ACG case reports journal

    2024  Volume 11, Issue 5, Page(s) e01352

    Abstract: Metastasis of renal cell carcinoma (RCC) to the gastrointestinal (GI) tract is exceedingly rare. We present a case of a man in his 40s with a history of RCC that had metastasized to his abdominal wall and brain who then presented with abdominal pain and ... ...

    Abstract Metastasis of renal cell carcinoma (RCC) to the gastrointestinal (GI) tract is exceedingly rare. We present a case of a man in his 40s with a history of RCC that had metastasized to his abdominal wall and brain who then presented with abdominal pain and melena. On presentation, imaging showed new bone metastases and a colonic mass in the ascending colon. The biopsy of the mass from colonoscopy demonstrated RCC primary. Although rare, this case report highlights the importance of a thorough evaluation of patients with a history of RCC and considers GI tract involvement in those presenting with GI bleeding.
    Language English
    Publishing date 2024-05-02
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2814825-3
    ISSN 2326-3253
    ISSN 2326-3253
    DOI 10.14309/crj.0000000000001352
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  3. Article ; Online: HDO production from [

    Mahar, Rohit / Donabedian, Patrick L / Merritt, Matthew E

    Scientific reports

    2020  Volume 10, Issue 1, Page(s) 8885

    Abstract: Increased glucose uptake and aerobic glycolysis are striking features of many cancers. These features have led to many techniques for screening and diagnosis, but many are expensive, less feasible or have harmful side-effects. Here, we report a ... ...

    Abstract Increased glucose uptake and aerobic glycolysis are striking features of many cancers. These features have led to many techniques for screening and diagnosis, but many are expensive, less feasible or have harmful side-effects. Here, we report a sensitive
    MeSH term(s) Aerobiosis ; Carcinoma, Hepatocellular/diagnosis ; Carcinoma, Hepatocellular/metabolism ; Cell Line, Tumor ; Culture Media/chemistry ; Deuterium Oxide/metabolism ; Early Detection of Cancer ; Glucose/metabolism ; Glycolysis ; Humans ; Lactic Acid/metabolism ; Liver Neoplasms/diagnosis ; Liver Neoplasms/metabolism ; Proton Magnetic Resonance Spectroscopy
    Chemical Substances Culture Media ; Lactic Acid (33X04XA5AT) ; Glucose (IY9XDZ35W2) ; Deuterium Oxide (J65BV539M3)
    Language English
    Publishing date 2020-06-01
    Publishing country England
    Document type Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-020-65839-8
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  4. Article ; Online: HDO production from [2H7]glucose Quantitatively Identifies Warburg Metabolism

    Rohit Mahar / Patrick L. Donabedian / Matthew E. Merritt

    Scientific Reports, Vol 10, Iss 1, Pp 1-

    2020  Volume 10

    Abstract: Abstract Increased glucose uptake and aerobic glycolysis are striking features of many cancers. These features have led to many techniques for screening and diagnosis, but many are expensive, less feasible or have harmful side-effects. Here, we report a ... ...

    Abstract Abstract Increased glucose uptake and aerobic glycolysis are striking features of many cancers. These features have led to many techniques for screening and diagnosis, but many are expensive, less feasible or have harmful side-effects. Here, we report a sensitive 1H/2H NMR method to measure the kinetics of lactate isotopomer and HDO production using a deuterated tracer. To test this hypothesis, HUH-7 hepatocellular carcinoma and AML12 normal hepatocytes were incubated with [2H7]glucose. 1H/2H NMR data were recorded for cell media as a function of incubation time. The efflux rate of lactate-CH3, lactate-CH2D and lactate-CHD2 was calculated as 0.0033, 0.0071, and 0.0.012 µmol/106cells/min respectively. Differential production of lactate isotopomers was due to deuterium loss during glycolysis. Glucose uptake and HDO production by HUH-7 cells showed a strong correlation, indicating that monitoring the HDO production could be a diagnostic feature in cancers. Deuterium mass balance of [2H7]glucose uptake to 2H-lactate and HDO production is quantitatively matched, suggesting increasing HDO signal could be used to diagnose Warburg (cancer) metabolism. Measuring the kinetics of lactate isotopomer and HDO production by 1H and 2H MR respectively are highly sensitive. Increased T1 of 2H-lactate isotopomers indicates inversion/saturation recovery methods may be a simple means of generating metabolism-based contrast.
    Keywords Medicine ; R ; Science ; Q
    Subject code 670
    Language English
    Publishing date 2020-06-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Selective In Vitro and Ex Vivo Staining of Brain Neurofibrillary Tangles and Amyloid Plaques by Novel Ethylene Ethynylene-Based Optical Sensors.

    Monge, Florencia A / Fanni, Adeline M / Donabedian, Patrick L / Hulse, Jonathan / Maphis, Nicole M / Jiang, Shanya / Donaldson, Tia N / Clark, Benjamin J / Whitten, David G / Bhaskar, Kiran / Chi, Eva Y

    Biosensors

    2023  Volume 13, Issue 2

    Abstract: The identification of protein aggregates as biomarkers for neurodegeneration is an area of interest for disease diagnosis and treatment development. In this work, we present novel super luminescent conjugated polyelectrolyte molecules as ex vivo sensors ... ...

    Abstract The identification of protein aggregates as biomarkers for neurodegeneration is an area of interest for disease diagnosis and treatment development. In this work, we present novel super luminescent conjugated polyelectrolyte molecules as ex vivo sensors for tau-paired helical filaments (PHFs) and amyloid-β (Aβ) plaques. We evaluated the use of two oligo-p-phenylene ethynylenes (OPEs), anionic OPE
    MeSH term(s) Mice ; Humans ; Rats ; Animals ; Neurofibrillary Tangles/metabolism ; Neurofibrillary Tangles/pathology ; Plaque, Amyloid ; tau Proteins ; Alzheimer Disease/diagnosis ; Brain/metabolism ; Amyloid beta-Peptides ; Staining and Labeling ; Ethylenes/metabolism
    Chemical Substances tau Proteins ; Amyloid beta-Peptides ; Ethylenes
    Language English
    Publishing date 2023-01-18
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662125-3
    ISSN 2079-6374 ; 2079-6374
    ISSN (online) 2079-6374
    ISSN 2079-6374
    DOI 10.3390/bios13020151
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  6. Article: Substituent, Charge, and Size Effects on the Fluorogenic Performance of Amyloid Ligands: A Small-Library Screening Study.

    Donabedian, Patrick L / Evanoff, Mallory / Monge, Florencia A / Whitten, David G / Chi, Eva Y

    ACS omega

    2017  Volume 2, Issue 7, Page(s) 3192–3200

    Abstract: Developing new molecular ligands for the direct detection and tracking of amyloid protein aggregates is key to understanding and defeating myriad neurodegenerative and other disorders including Alzheimer's and Parkinson's diseases. A crucial factor in ... ...

    Abstract Developing new molecular ligands for the direct detection and tracking of amyloid protein aggregates is key to understanding and defeating myriad neurodegenerative and other disorders including Alzheimer's and Parkinson's diseases. A crucial factor in the performance of an amyloid dye is its ability to detect the amyloid structural motif independent of the sequence of the amyloid-forming protomer. The current study investigates structure-function relationships of a class of novel phenyleneethynylene (PPE)-based dyes and fluorescent polymers using amyloid fibrils formed by two model proteins: lysozyme and insulin. A small library of 18 PPE compounds that vary in molecular weights, charge densities, water solubilities, and types and geometries of functional groups was tested. One compound, the small anionic oligo(
    Language English
    Publishing date 2017-07-06
    Publishing country United States
    Document type Journal Article
    ISSN 2470-1343
    ISSN 2470-1343
    DOI 10.1021/acsomega.7b00231
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  7. Article ; Online: Oligo(p-phenylene ethynylene) Electrolytes: A Novel Molecular Scaffold for Optical Tracking of Amyloids.

    Donabedian, Patrick L / Pham, Thao K / Whitten, David G / Chi, Eva Y

    ACS chemical neuroscience

    2015  Volume 6, Issue 9, Page(s) 1526–1535

    Abstract: Finding new optical probes to detect and track amyloid protein aggregates is key to understanding and defeating the myriad of neurodegenerative and other diseases associated with these misfolded proteins. Herein we report that a series of fluorescent, ... ...

    Abstract Finding new optical probes to detect and track amyloid protein aggregates is key to understanding and defeating the myriad of neurodegenerative and other diseases associated with these misfolded proteins. Herein we report that a series of fluorescent, soluble oligo(p-phenylene ethynylene)s (OPEs) are able to detect amyloids in vitro by massive binding-activated superluminescence, with low micromolar affinity and high selectivity for the amyloid conformer. The OPEs track the kinetics of amyloid fibril formation from native hen egg white lysozyme (HEWL) similarly to thioflavin T (ThT), and the dependence of binding affinity on OPE length supports the theory of a linear binding groove. We hypothesize, based on spectral properties, induced circular dichroism, and previous work in analogous systems, that the fluorescence turn-on mechanism is a combination of the reduction of static solvent-mediated quenching at the ethyl ester end groups of the phenylene ethynylene fluorophore and the formation of chiral J-type aggregates templated on the amyloid fibril surface.
    MeSH term(s) Amyloid/chemistry ; Amyloid/metabolism ; Circular Dichroism ; Electrolytes/chemical synthesis ; Electrolytes/chemistry ; Fluorescent Dyes/chemical synthesis ; Fluorescent Dyes/chemistry ; Kinetics ; Microscopy, Atomic Force ; Microscopy, Electron, Transmission ; Molecular Structure ; Muramidase/chemistry ; Muramidase/metabolism ; Optical Imaging/instrumentation ; Optical Imaging/methods ; Polymers/chemical synthesis ; Polymers/chemistry ; Spectrophotometry ; Thiazoles/chemistry ; Thiazoles/metabolism
    Chemical Substances Amyloid ; Electrolytes ; Fluorescent Dyes ; Polymers ; Thiazoles ; poly(phenylene ethynylene) ; thioflavin T (2390-54-7) ; hen egg lysozyme (EC 3.2.1.-) ; Muramidase (EC 3.2.1.17)
    Language English
    Publishing date 2015-09-16
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ISSN 1948-7193
    ISSN (online) 1948-7193
    DOI 10.1021/acschemneuro.5b00086
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  8. Article ; Online: Substituent, Charge, and Size Effects on the Fluorogenic Performance of Amyloid Ligands

    Patrick L. Donabedian / Mallory Evanoff / Florencia A. Monge / David G. Whitten / Eva Y. Chi

    ACS Omega, Vol 2, Iss 7, Pp 3192-

    A Small-Library Screening Study

    2017  Volume 3200

    Keywords Chemistry ; QD1-999
    Language English
    Publishing date 2017-07-01T00:00:00Z
    Publisher American Chemical Society
    Document type Article ; Online
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  9. Article ; Online: Highly Effective Inactivation of SARS-CoV-2 by Conjugated Polymers and Oligomers.

    Monge, Florencia A / Jagadesan, Pradeepkumar / Bondu, Virginie / Donabedian, Patrick L / Ista, Linnea / Chi, Eva Y / Schanze, Kirk S / Whitten, David G / Kell, Alison M

    ACS applied materials & interfaces

    2020  Volume 12, Issue 50, Page(s) 55688–55695

    Abstract: In the present study, we examined the inactivation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) by synthetic conjugated polymers and oligomers developed in our laboratories as antimicrobials for bacteria, fungi, and nonenveloped ... ...

    Abstract In the present study, we examined the inactivation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) by synthetic conjugated polymers and oligomers developed in our laboratories as antimicrobials for bacteria, fungi, and nonenveloped viruses. The results show highly effective light-induced inactivation with several of these oligomers and polymers including irradiation with near-UV and visible light. In the best case, one oligomer induced a 5-log reduction in pfu/mL within 10 min. In general, the oligomers are more active than the polymers; however, the polymers are active with longer wavelength visible irradiation. Although not studied quantitatively, the results show that in the presence of the agents at concentrations similar to those used in the light studies, there is essentially no dark inactivation of the virus. Because three of the five materials/compounds examined are quaternary ammonium derivatives, this study indicates that conventional quaternary ammonium antimicrobials may not be active against SARS-CoV-2. Our results suggest several applications involving the incorporation of these materials in wipes, sprays, masks, and clothing and other personal protection equipment that can be useful in preventing infections and the spreading of this deadly virus and future outbreaks from similar viruses.
    MeSH term(s) Animals ; COVID-19/virology ; Chlorocebus aethiops ; Humans ; Light ; Polymers/pharmacology ; Polymers/radiation effects ; SARS-CoV-2/drug effects ; SARS-CoV-2/pathogenicity ; SARS-CoV-2/radiation effects ; Ultraviolet Rays ; Vero Cells ; Virus Inactivation/drug effects ; Virus Inactivation/radiation effects ; COVID-19 Drug Treatment
    Chemical Substances Polymers
    Language English
    Publishing date 2020-12-02
    Publishing country United States
    Document type Journal Article
    ISSN 1944-8252
    ISSN (online) 1944-8252
    DOI 10.1021/acsami.0c17445
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  10. Article ; Online: [

    Pirovano, Giacomo / Roberts, Sheryl / Brand, Christian / Donabedian, Patrick L / Mason, Christian / de Souza, Paula Demétrio / Higgins, Geoff S / Reiner, Thomas

    Molecular imaging and biology

    2018  Volume 21, Issue 4, Page(s) 705–712

    Abstract: Purpose: Lymphokine-activated killer T cell-originated protein kinase (TOPK) is a fairly new cancer biomarker with great potential for clinical applications. The labeling of a TOPK inhibitor with F-18 can be exploited for positron emission tomography ( ... ...

    Abstract Purpose: Lymphokine-activated killer T cell-originated protein kinase (TOPK) is a fairly new cancer biomarker with great potential for clinical applications. The labeling of a TOPK inhibitor with F-18 can be exploited for positron emission tomography (PET) imaging allowing more accurate patient identification, stratification, and disease monitoring.
    Procedures: [
    Results: [
    Conclusions: [
    MeSH term(s) Animals ; Brain Neoplasms/blood ; Brain Neoplasms/diagnostic imaging ; Brain Neoplasms/drug therapy ; Cell Line, Tumor ; Glioblastoma/blood ; Glioblastoma/diagnostic imaging ; Glioblastoma/drug therapy ; Half-Life ; Humans ; Mice ; Mitogen-Activated Protein Kinase Kinases/metabolism ; Positron-Emission Tomography ; Protein Kinase Inhibitors/pharmacology ; Protein Kinase Inhibitors/therapeutic use ; Quinolones/blood ; Quinolones/pharmacology ; Quinolones/therapeutic use ; Radiopharmaceuticals/chemical synthesis ; Radiopharmaceuticals/chemistry ; Small Molecule Libraries/pharmacology ; Small Molecule Libraries/therapeutic use ; Xenograft Model Antitumor Assays
    Chemical Substances OTS964 ; Protein Kinase Inhibitors ; Quinolones ; Radiopharmaceuticals ; Small Molecule Libraries ; Mitogen-Activated Protein Kinase Kinases (EC 2.7.12.2) ; TOPK protein, mouse (EC 2.7.12.2)
    Language English
    Publishing date 2018-10-24
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2079160-4
    ISSN 1860-2002 ; 1536-1632
    ISSN (online) 1860-2002
    ISSN 1536-1632
    DOI 10.1007/s11307-018-1288-6
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