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  1. Article: Secondary Pure Red Cell Aplasia During Daratumumab/ Hyaluronidase Therapy for Multiple Myeloma.

    Saba, Ludovic / Landau, Kevin S / Bunting, Silvia / Chaulagain, Chakra P

    Oncology (Williston Park, N.Y.)

    2023  Volume 37, Issue 10, Page(s) 419–424

    Abstract: Predominantly autoimmune in origin, severe normochromic, normocytic anemia with reticulocytopenia in the setting of the normal production of leukocytes and megakaryocytic lineages is known as pure red cell aplasia (PRCA), which is unlike aplastic anemia ... ...

    Abstract Predominantly autoimmune in origin, severe normochromic, normocytic anemia with reticulocytopenia in the setting of the normal production of leukocytes and megakaryocytic lineages is known as pure red cell aplasia (PRCA), which is unlike aplastic anemia in which all lineages are affected due to a stem cell defect. PRCA can be primary (such as autoimmune) or acquired, which can be an acute self-limited illness or a chronic disease that may be induced by medications, including immunotherapy such as monoclonal antibodies (mAbs). Daratumumab is a mAb directed against CD38 used for the treatment of multiple myeloma and systemic amyloid light-chain amyloidosis. The intravenous formulation of daratumumab received initial FDA approval, and later approval was received for the subcutaneous formulation daratumumab and hyaluronidase-fihj. The subcutaneous version increases patient convenience and has become the preferred route of administration since its approval. We herein present the case of a patient with multiple myeloma who developed acquired DNMT3A-positive PRCA while transitioning to daratumumab/hyaluronidase after initial treatment with daratumumab.
    MeSH term(s) Humans ; Multiple Myeloma/drug therapy ; Hyaluronoglucosaminidase ; Red-Cell Aplasia, Pure/chemically induced ; Red-Cell Aplasia, Pure/drug therapy ; Antibodies, Monoclonal/adverse effects ; Antineoplastic Agents
    Chemical Substances daratumumab (4Z63YK6E0E) ; Hyaluronoglucosaminidase (EC 3.2.1.35) ; Antibodies, Monoclonal ; Antineoplastic Agents
    Language English
    Publishing date 2023-10-25
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1067950-9
    ISSN 0890-9091
    ISSN 0890-9091
    DOI 10.46883/2023.25921006
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Real world analysis on the determinants of survival in primary plasma cell leukemia in the United States.

    Saba, Ludovic / Landau, Kevin S / Liang, Hong / Fu, Chieh-Lin / Chaulagain, Chakra P

    Leukemia

    2023  Volume 38, Issue 2, Page(s) 435–437

    MeSH term(s) Humans ; United States/epidemiology ; Leukemia, Plasma Cell ; Leukemia, Lymphocytic, Chronic, B-Cell ; SEER Program ; Retrospective Studies
    Language English
    Publishing date 2023-12-04
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 807030-1
    ISSN 1476-5551 ; 0887-6924
    ISSN (online) 1476-5551
    ISSN 0887-6924
    DOI 10.1038/s41375-023-02100-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Renal Papillary Necrosis Following Mesenteric Artery Stenting.

    Glusman, Zachary A / Sample, Kenneth J / Landau, Kevin S / Vigo, Ronald B

    Cureus

    2020  Volume 12, Issue 10, Page(s) e10824

    Abstract: A 62-year-old man presented with left flank pain and hematuria four days after undergoing mesenteric artery balloon angioplasty and stent placement. Imaging revealed left renal infarction with associated papillary necrosis and a thrombus in the left ... ...

    Abstract A 62-year-old man presented with left flank pain and hematuria four days after undergoing mesenteric artery balloon angioplasty and stent placement. Imaging revealed left renal infarction with associated papillary necrosis and a thrombus in the left collecting system causing acute renal obstruction. Complete obstruction was confirmed using MAG3 Renal Scan with Lasix. A nephrostomy tube was inserted under CT guidance by interventional radiology with complete resolution of obstruction and hematuria.
    Keywords covid19
    Language English
    Publishing date 2020-10-06
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.10824
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Engineering Organ-on-a-Chip Systems for Vascular Diseases.

    Shakeri, Amid / Wang, Ying / Zhao, Yimu / Landau, Shira / Perera, Kevin / Lee, Jonguk / Radisic, Milica

    Arteriosclerosis, thrombosis, and vascular biology

    2023  Volume 43, Issue 12, Page(s) 2241–2255

    Abstract: Vascular diseases, such as atherosclerosis and thrombosis, are major causes of morbidity and mortality worldwide. Traditional in vitro models for studying vascular diseases have limitations, as they do not fully recapitulate the complexity of the in vivo ...

    Abstract Vascular diseases, such as atherosclerosis and thrombosis, are major causes of morbidity and mortality worldwide. Traditional in vitro models for studying vascular diseases have limitations, as they do not fully recapitulate the complexity of the in vivo microenvironment. Organ-on-a-chip systems have emerged as a promising approach for modeling vascular diseases by incorporating multiple cell types, mechanical and biochemical cues, and fluid flow in a microscale platform. This review provides an overview of recent advancements in engineering organ-on-a-chip systems for modeling vascular diseases, including the use of microfluidic channels, ECM (extracellular matrix) scaffolds, and patient-specific cells. We also discuss the limitations and future perspectives of organ-on-a-chip for modeling vascular diseases.
    MeSH term(s) Humans ; Microphysiological Systems ; Lab-On-A-Chip Devices ; Microfluidics ; Extracellular Matrix/metabolism ; Vascular Diseases/therapy ; Vascular Diseases/metabolism
    Language English
    Publishing date 2023-10-12
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1221433-4
    ISSN 1524-4636 ; 1079-5642
    ISSN (online) 1524-4636
    ISSN 1079-5642
    DOI 10.1161/ATVBAHA.123.318233
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Highly Disordered Proteins in Prostate Cancer.

    Uversky, Vladimir N / Na, Insung / Landau, Kevin S / Schenck, Ryan O

    Current protein & peptide science

    2017  Volume 18, Issue 5, Page(s) 453–481

    Abstract: Prostate cancer is one of the major threats to the man's health. There are several mechanisms of the prostate cancer development characterized by the involvement of various androgen-related and androgen-unrelated factors in prostate cancer pathogenesis ... ...

    Abstract Prostate cancer is one of the major threats to the man's health. There are several mechanisms of the prostate cancer development characterized by the involvement of various androgen-related and androgen-unrelated factors in prostate cancer pathogenesis and in the metastatic carcinogenesis of prostate. In all these processes, proteins play various important roles, and the KEGG database has information on 88 human proteins experimentally shown to be involved in prostate cancer. It is known that many proteins associated with different human maladies are intrinsically disordered (i.e., they do not have stable secondary and/or tertiary structure in their unbound states). The goal of this review is to consider several highly disordered proteins known to be associated with the prostate cancer pathogenesis in order to better understand the roles of disordered proteins in this disease. We also hope that consideration of the pathology-related proteins from the perspective of intrinsic disorder can potentially lead to future experimental studies of these proteins to find novel pathways associated with prostate cancer.
    MeSH term(s) Amino Acid Sequence ; Gene Expression Regulation, Neoplastic ; Gene Regulatory Networks ; Humans ; Intrinsically Disordered Proteins/chemistry ; Intrinsically Disordered Proteins/genetics ; Intrinsically Disordered Proteins/metabolism ; Male ; Models, Molecular ; Neoplasm Proteins/chemistry ; Neoplasm Proteins/genetics ; Neoplasm Proteins/metabolism ; Prostatic Neoplasms/genetics ; Prostatic Neoplasms/metabolism ; Prostatic Neoplasms/pathology ; Protein Conformation ; Protein Interaction Mapping ; Protein Processing, Post-Translational ; Proteome/chemistry ; Proteome/genetics ; Proteome/metabolism ; Sequence Alignment ; Sequence Homology, Amino Acid
    Chemical Substances Intrinsically Disordered Proteins ; Neoplasm Proteins ; Proteome
    Language English
    Publishing date 2017
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2045662-1
    ISSN 1875-5550 ; 1389-2037
    ISSN (online) 1875-5550
    ISSN 1389-2037
    DOI 10.2174/1389203717666161028145848
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Unfoldomics of prostate cancer: on the abundance and roles of intrinsically disordered proteins in prostate cancer.

    Landau, Kevin S / Na, Insung / Schenck, Ryan O / Uversky, Vladimir N

    Asian journal of andrology

    2016  Volume 18, Issue 5, Page(s) 662–672

    Abstract: Prostatic diseases such as prostate cancer and benign prostatic hyperplasia are highly prevalent among men. The number of studies focused on the abundance and roles of intrinsically disordered proteins in prostate cancer is rather limited. The goal of ... ...

    Abstract Prostatic diseases such as prostate cancer and benign prostatic hyperplasia are highly prevalent among men. The number of studies focused on the abundance and roles of intrinsically disordered proteins in prostate cancer is rather limited. The goal of this study is to analyze the prevalence and degree of disorder in proteins that were previously associated with the prostate cancer pathogenesis and to compare these proteins to the entire human proteome. The analysis of these datasets provides means for drawing conclusions on the roles of disordered proteins in this common male disease. We also hope that the results of our analysis can potentially lead to future experimental studies of these proteins to find novel pathways associated with this disease.
    MeSH term(s) Databases, Protein ; Humans ; Intrinsically Disordered Proteins/metabolism ; Male ; Prostate/metabolism ; Prostate/pathology ; Prostatic Hyperplasia/metabolism ; Prostatic Hyperplasia/pathology ; Prostatic Neoplasms/metabolism ; Prostatic Neoplasms/pathology ; Protein Folding ; Proteome
    Chemical Substances Intrinsically Disordered Proteins ; Proteome
    Language English
    Publishing date 2016-09
    Publishing country China
    Document type Journal Article
    ZDB-ID 2075824-8
    ISSN 1745-7262 ; 1008-682X
    ISSN (online) 1745-7262
    ISSN 1008-682X
    DOI 10.4103/1008-682X.184999
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Epithelial TLR4 Signaling Activates DUOX2 to Induce Microbiota-Driven Tumorigenesis.

    Burgueño, Juan F / Fritsch, Julia / González, Eddy E / Landau, Kevin S / Santander, Ana M / Fernández, Irina / Hazime, Hajar / Davies, Julie M / Santaolalla, Rebeca / Phillips, Matthew C / Diaz, Sophia / Dheer, Rishu / Brito, Nivis / Pignac-Kobinger, Judith / Fernández, Ester / Conner, Gregory E / Abreu, Maria T

    Gastroenterology

    2020  Volume 160, Issue 3, Page(s) 797–808.e6

    Abstract: Background & aims: Chronic colonic inflammation leads to dysplasia and cancer in patients with inflammatory bowel disease. We have described the critical role of innate immune signaling via Toll-like receptor 4 (TLR4) in the pathogenesis of dysplasia ... ...

    Abstract Background & aims: Chronic colonic inflammation leads to dysplasia and cancer in patients with inflammatory bowel disease. We have described the critical role of innate immune signaling via Toll-like receptor 4 (TLR4) in the pathogenesis of dysplasia and cancer. In the current study, we interrogate the intersection of TLR4 signaling, epithelial redox activity, and the microbiota in colitis-associated neoplasia.
    Methods: Inflammatory bowel disease and colorectal cancer data sets were analyzed for expression of TLR4, dual oxidase 2 (DUOX2), and NADPH oxidase 1 (NOX1). Epithelial production of hydrogen peroxide (H
    Results: Activation of epithelial TLR4 was associated with up-regulation of DUOX2 and NOX1 in inflammatory bowel disease and colorectal cancer. DUOX2 was exquisitely dependent on TLR4 signaling and mediated the production of epithelial H
    Conclusions: Increased TLR4 signaling in colitis drives expression of DUOX2 and epithelial production of H
    MeSH term(s) Animals ; Azoxymethane/administration & dosage ; Azoxymethane/toxicity ; Carcinogenesis/chemically induced ; Carcinogenesis/immunology ; Carcinogenesis/pathology ; Colitis, Ulcerative/chemically induced ; Colitis, Ulcerative/complications ; Colitis, Ulcerative/immunology ; Colitis, Ulcerative/microbiology ; Colitis-Associated Neoplasms/immunology ; Colitis-Associated Neoplasms/microbiology ; Colitis-Associated Neoplasms/pathology ; Colon/drug effects ; Colon/immunology ; Colon/microbiology ; Colon/pathology ; Datasets as Topic ; Dextran Sulfate/administration & dosage ; Dextran Sulfate/toxicity ; Disease Models, Animal ; Dual Oxidases/metabolism ; Gastrointestinal Microbiome/immunology ; Germ-Free Life ; Humans ; Hydrogen Peroxide/metabolism ; Intestinal Mucosa/drug effects ; Intestinal Mucosa/immunology ; Intestinal Mucosa/microbiology ; Intestinal Mucosa/pathology ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Mice ; Mice, Knockout ; NADPH Oxidase 1/metabolism ; Toll-Like Receptor 4/genetics ; Toll-Like Receptor 4/metabolism
    Chemical Substances DUOXA2 protein, mouse ; Membrane Proteins ; TLR4 protein, human ; Tlr4 protein, mouse ; Toll-Like Receptor 4 ; Dextran Sulfate (9042-14-2) ; Hydrogen Peroxide (BBX060AN9V) ; Dual Oxidases (EC 1.11.1.-) ; NADPH Oxidase 1 (EC 1.6.3.-) ; NOX1 protein, human (EC 1.6.3.-) ; Duox2 protein, mouse (EC 1.6.3.1) ; Azoxymethane (MO0N1J0SEN)
    Language English
    Publishing date 2020-10-24
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 80112-4
    ISSN 1528-0012 ; 0016-5085
    ISSN (online) 1528-0012
    ISSN 0016-5085
    DOI 10.1053/j.gastro.2020.10.031
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.

    Maj, Mary / Taylor, Christie L / Landau, Kevin / Toriello, Helga V / Li, Dong / Bhoj, Elizabeth J / Hakonarson, Hakon / Nelson, Beverly / Gluschitz, Sarah / Walker, Ruth H / Sobering, Andrew K

    Molecular genetics & genomic medicine

    2022  Volume 11, Issue 1, Page(s) e2064

    Abstract: Background: SYNJ1 encodes Synaptojanin-1, a dual-function poly-phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle dynamics. Biallelic SYNJ1 variants cause a spectrum of clinical manifestations, from early ... ...

    Abstract Background: SYNJ1 encodes Synaptojanin-1, a dual-function poly-phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle dynamics. Biallelic SYNJ1 variants cause a spectrum of clinical manifestations, from early onset parkinsonism to developmental and epileptic encephalopathy.
    Methods: Proband-only exome sequencing was used to identify a homozygous SYNJ1 pathogenic variant in an individual with epileptic encephalopathy. Sanger sequencing was used to confirm the variant.
    Results: We present an Afro-Caribbean female who developed uncontrollable seizures shortly after birth, accompanied by developmental delay and severe generalized dystonia. She had homozygosity for a novel c.242-2A > G variant in SYNJ1 with both parents being heterozygous carriers. An older sister was reported to have had a similar presentation but was not examined. Both siblings died at an approximate age of 16 years.
    Conclusions: We report a novel pathogenic variant in SYNJ1 present in homozygosity leading to developmental and epileptic encephalopathy. Currently, there are only 4 reports describing 10 individuals with SYNJ1-related developmental and epileptic encephalopathy. This case expands the clinical knowledge and the allelic heterogeneity associated with SYNJ1 variants.
    MeSH term(s) Humans ; Female ; Adolescent ; Epilepsy, Generalized ; Homozygote ; Brain ; Seizures ; Caribbean Region
    Language English
    Publishing date 2022-09-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.2064
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Standards for the care of people with cystic fibrosis; establishing and maintaining health.

    Southern, Kevin W / Addy, Charlotte / Bell, Scott C / Bevan, Amanda / Borawska, Urzula / Brown, Catherine / Burgel, Pierre-Régis / Button, Brenda / Castellani, Carlo / Chansard, Audrey / Chilvers, Mark A / Davies, Gwyneth / Davies, Jane C / De Boeck, Kris / Declercq, Dimitri / Doumit, Michael / Drevinek, Pavel / Fajac, Isabelle / Gartner, Silvia /
    Georgiopoulos, Anna M / Gursli, Sandra / Gramegna, Andrea / Hansen, Carina Me / Hug, Martin J / Lammertyn, Elise / Landau, Edwina Eddie C / Langley, Ross / Mayer-Hamblett, Nicole / Middleton, Anna / Middleton, Peter G / Mielus, Monika / Morrison, Lisa / Munck, Anne / Plant, Barry / Ploeger, Maarten / Bertrand, Dominique Pougheon / Pressler, Tacjana / Quon, Bradley S / Radtke, Thomas / Saynor, Zoe L / Shufer, Ilan / Smyth, Alan R / Smith, Chris / van Koningsbruggen-Rietschel, Silke

    Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

    2023  Volume 23, Issue 1, Page(s) 12–28

    Abstract: This is the second in a series of four papers updating the European Cystic Fibrosis Society (ECFS) standards for the care of people with CF. This paper focuses on establishing and maintaining health. The guidance is produced using an evidence-based ... ...

    Abstract This is the second in a series of four papers updating the European Cystic Fibrosis Society (ECFS) standards for the care of people with CF. This paper focuses on establishing and maintaining health. The guidance is produced using an evidence-based framework and with wide stakeholder engagement, including people from the CF community. Authors provided a narrative description of their topic and statements, which were more directive. These statements were reviewed by a Delphi exercise, achieving good levels of agreement from a wide group for all statements. This guidance reinforces the importance of a multi-disciplinary CF team, but also describes developing models of care including virtual consultations. The framework for health is reinforced, including the need for a physically active lifestyle and the strict avoidance of all recreational inhalations, including e-cigarettes. Progress with cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy is reviewed, including emerging adverse events and advice for dose reduction and interruption. This paper contains guidance that is pertinent to all people with CF regardless of age and eligibility for and access to modulator therapy.
    MeSH term(s) Humans ; Cystic Fibrosis/drug therapy ; Electronic Nicotine Delivery Systems ; Mutation ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Respiratory System Agents/therapeutic use
    Chemical Substances Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6) ; Respiratory System Agents
    Language English
    Publishing date 2023-12-21
    Publishing country Netherlands
    Document type Review ; Journal Article
    ZDB-ID 2084724-5
    ISSN 1873-5010 ; 1569-1993
    ISSN (online) 1873-5010
    ISSN 1569-1993
    DOI 10.1016/j.jcf.2023.12.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

    Vogel, Georg F / Mozer-Glassberg, Yael / Landau, Yuval E / Schlieben, Lea D / Prokisch, Holger / Feichtinger, René G / Mayr, Johannes A / Brennenstuhl, Heiko / Schröter, Julian / Pechlaner, Agnes / Alkuraya, Fowzan S / Baker, Joshua J / Barcia, Giulia / Baric, Ivo / Braverman, Nancy / Burnyte, Birute / Christodoulou, John / Ciara, Elzbieta / Coman, David /
    Das, Anibh M / Darin, Niklas / Della Marina, Adela / Distelmaier, Felix / Eklund, Erik A / Ersoy, Melike / Fang, Weiyan / Gaignard, Pauline / Ganetzky, Rebecca D / Gonzales, Emmanuel / Howard, Caoimhe / Hughes, Joanne / Konstantopoulou, Vassiliki / Kose, Melis / Kerr, Marina / Khan, Aneal / Lenz, Dominic / McFarland, Robert / Margolis, Merav Gil / Morrison, Kevin / Müller, Thomas / Murayama, Kei / Nicastro, Emanuele / Pennisi, Alessandra / Peters, Heidi / Piekutowska-Abramczuk, Dorota / Rötig, Agnès / Santer, René / Scaglia, Fernando / Schiff, Manuel / Shagrani, Mohmmad / Sharrard, Mark / Soler-Alfonso, Claudia / Staufner, Christian / Storey, Imogen / Stormon, Michael / Taylor, Robert W / Thorburn, David R / Teles, Elisa Leao / Wang, Jian-She / Weghuber, Daniel / Wortmannd, Saskia

    Genetics in medicine : official journal of the American College of Medical Genetics

    2023  Volume 25, Issue 6, Page(s) 100828

    Language English
    Publishing date 2023-04-13
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2023.100828
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