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  1. Article ; Online: Postpartum Extended-Release Buprenorphine Tissue Necrosis.

    Kurtz, Theresa / Charles, Jasmin E / Schwartz, Megan / Smid, Marcela C

    Obstetrics and gynecology

    2023  Volume 142, Issue 6, Page(s) 1504–1508

    Abstract: Background: Extended-release buprenorphine (XRB) may improve medication for opioid use disorder continuation among postpartum individuals. However, obstetric clinicians have relatively little experience with XRB. We describe two cases of XRB-related ... ...

    Abstract Background: Extended-release buprenorphine (XRB) may improve medication for opioid use disorder continuation among postpartum individuals. However, obstetric clinicians have relatively little experience with XRB. We describe two cases of XRB-related tissue necrosis in postpartum individuals to highlight recommended injection technique and management strategies for this rare complication.
    Cases: One patient developed tissue necrosis after her initial injection. Her wound was expectantly managed. Another patient on long-term XRB developed tissue necrosis within 1 day of injection. General surgery excised the depot. Both instances were attributed to injection of XRB intradermally rather than subcutaneously. Both patients continued monthly XRB without recurrence, suggesting that this complication is not an allergy.
    Conclusion: Clinicians should be able to prevent, recognize, and manage tissue necrosis, a rare complication of XRB injection.
    MeSH term(s) Humans ; Female ; Buprenorphine/therapeutic use ; Delayed-Action Preparations/adverse effects ; Opioid-Related Disorders/drug therapy ; Opiate Substitution Treatment ; Injections ; Analgesics, Opioid/therapeutic use ; Narcotic Antagonists
    Chemical Substances Buprenorphine (40D3SCR4GZ) ; Delayed-Action Preparations ; Analgesics, Opioid ; Narcotic Antagonists
    Language English
    Publishing date 2023-11-02
    Publishing country United States
    Document type Journal Article
    ZDB-ID 207330-4
    ISSN 1873-233X ; 0029-7844
    ISSN (online) 1873-233X
    ISSN 0029-7844
    DOI 10.1097/AOG.0000000000005425
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  2. Article ; Online: In search of the earliest images of symmelia in works of art.

    Schwartz, Charles E / Stevenson, Roger E

    American journal of medical genetics. Part C, Seminars in medical genetics

    2021  Volume 187, Issue 2, Page(s) 151–156

    Abstract: Symmelia (alias sirenomelia, mermaid malformation) is one of the most distinctive malformations which, not surprisingly, has attracted the attention of many artists, writers and other observers of the human condition. Works of art depicting symmelia date ...

    Abstract Symmelia (alias sirenomelia, mermaid malformation) is one of the most distinctive malformations which, not surprisingly, has attracted the attention of many artists, writers and other observers of the human condition. Works of art depicting symmelia date back at least two millennia. Some are anatomically based while others are more fanciful creations intended to stir the imagination. The figure of Atargatis as a mermaid on a first century BC coin is one of the earliest known images of symmelia. A nearly 2000-year-old Native American pottery figure representing an infant with symmelia is another.
    MeSH term(s) Ectromelia ; Humans ; Infant
    Language English
    Publishing date 2021-05-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.31856
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  3. Book: Atlas of X-linked intellectual disability syndromes

    Stevenson, Roger E. / Schwartz, Charles E. / Rogers, Richard Curtis

    2012  

    Author's details Roger E. Stevenson ; Charles E. Schwartz ; R. Curtis Rogers
    Keywords Mental Retardation, X-Linked
    Language English
    Size XVII, 344 S. : zahlr. Ill.
    Edition 2. ed.
    Publisher Oxford Univ. Press
    Publishing place Oxford u.a.
    Publishing country Great Britain
    Document type Book
    Note Includes bibliographical references and index
    Old title 1. Aufl. u.d.T. Stevenson, Roger E. : X-linked mental retardation
    HBZ-ID HT017320227
    ISBN 978-0-19-981179-3 ; 0-19-981179-2
    Database Catalogue ZB MED Medicine, Health

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    2012 A 3079 order for loan Magazin

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  4. Article ; Online: The Future of Clinical Diagnosis: Moving Functional Genomics Approaches to the Bedside.

    Pauly, Rini / Schwartz, Charles E

    Clinics in laboratory medicine

    2020  Volume 40, Issue 2, Page(s) 221–230

    MeSH term(s) Diagnostic Techniques and Procedures ; Genomics ; Humans ; Metabolomics ; Point-of-Care Systems ; RNA-Seq ; Whole Genome Sequencing
    Language English
    Publishing date 2020-05-20
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 604580-7
    ISSN 1557-9832 ; 0272-2712
    ISSN (online) 1557-9832
    ISSN 0272-2712
    DOI 10.1016/j.cll.2020.02.006
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  5. Article ; Online: Skewed X-inactivation and Females with Intellectual Disability.

    Schwartz, Charles E

    Human mutation

    2016  Volume 37, Issue 8, Page(s) 717

    Language English
    Publishing date 2016-08
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.23030
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  6. Article ; Online: Defining the 3'Epigenetic Boundary of the

    Godler, David E / Inaba, Yoshimi / Bui, Minh Q / Francis, David / Skinner, Cindy / Schwartz, Charles E / Amor, David J

    International journal of molecular sciences

    2023  Volume 24, Issue 13

    Abstract: This study characterizes the DNA methylation patterns specific to fragile X syndrome (FXS) with a full mutation (FM > 200 CGGs), premutation (PM 55-199 CGGs), and X inactivation in blood and brain tissues at the 3' boundary of ... ...

    Abstract This study characterizes the DNA methylation patterns specific to fragile X syndrome (FXS) with a full mutation (FM > 200 CGGs), premutation (PM 55-199 CGGs), and X inactivation in blood and brain tissues at the 3' boundary of the
    MeSH term(s) Male ; Humans ; Female ; Fragile X Syndrome/genetics ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism ; DNA Methylation ; Mutation ; X Chromosome Inactivation
    Chemical Substances Fragile X Mental Retardation Protein (139135-51-6) ; FMR1 protein, human
    Language English
    Publishing date 2023-06-27
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms241310712
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  7. Article ; Online: Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.

    Sahajpal, Nikhil / Ziats, Catherine / Chaubey, Alka / DuPont, Barbara R / Abidi, Fatima / Schwartz, Charles E / Stevenson, Roger E

    Clinical genetics

    2023  Volume 105, Issue 2, Page(s) 173–184

    Abstract: Duplication of all genes associated with X-linked intellectual disability (XLID) have been reported but the majority of the duplications include more than one XLID gene. It is exceptional for whole XLID gene duplications to cause the same phenotype as ... ...

    Abstract Duplication of all genes associated with X-linked intellectual disability (XLID) have been reported but the majority of the duplications include more than one XLID gene. It is exceptional for whole XLID gene duplications to cause the same phenotype as sequence variants or deletions of the same gene. Duplication of PLP1, the gene associated with Pelizaeus-Merzbacher syndrome, is the most notable duplication of this type. More commonly, duplication of XLID genes results in very different phenotypes than sequence alterations or deletions. Duplication of MECP2 is widely recognized as a duplication of this type, but a number of others exist. The phenotypes associated with gene duplications are often milder than those caused by deletions and sequence variants. Among some duplications that are clinically significant, marked skewing of X-inactivation in female carriers has been observed. This report describes the phenotypic consequences of duplication of 22 individual XLID genes, of which 10 are described for the first time.
    MeSH term(s) Humans ; Female ; Intellectual Disability/genetics ; Genes, X-Linked/genetics ; Gene Duplication ; X Chromosome Inactivation/genetics ; Mutation
    Language English
    Publishing date 2023-10-29
    Publishing country Denmark
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14445
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  8. Article ; Online: X-Linked intellectual disability update 2022.

    Schwartz, Charles E / Louie, Raymond J / Toutain, Annick / Skinner, Cindy / Friez, Michael J / Stevenson, Roger E

    American journal of medical genetics. Part A

    2022  Volume 191, Issue 1, Page(s) 144–159

    Abstract: Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate the list of 21 new genes associated with X-linked intellectual disability since the last update in 2017. The new genes were ...

    Abstract Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate the list of 21 new genes associated with X-linked intellectual disability since the last update in 2017. The new genes were identified by sequencing of candidate genes (2), the entire X-chromosome (2), the whole exome (15), or the whole genome (2). With these additions, 42 (21%) of the 199 named XLID syndromes and 27 (25%) of the 108 numbered nonsyndromic XLID families remain to be resolved at the molecular level. Although the pace of discovery of new XLID genes has slowed during the past 5 years, the density of genes on the X chromosome that cause intellectual disability still appears to be twice the density of intellectual disability genes on the autosomes.
    MeSH term(s) Humans ; Mutation ; Genes, X-Linked/genetics ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Exome ; Pedigree
    Language English
    Publishing date 2022-10-27
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63008
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  9. Article ; Online: Aberrant tryptophan metabolism: the unifying biochemical basis for autism spectrum disorders?

    Schwartz, Charles E

    Biomarkers in medicine

    2014  Volume 8, Issue 3, Page(s) 313–315

    MeSH term(s) Child Development Disorders, Pervasive/metabolism ; Child Development Disorders, Pervasive/pathology ; Humans ; Kynurenine/metabolism ; Mitochondria/metabolism ; Oxidative Stress ; Tryptophan/metabolism
    Chemical Substances Kynurenine (343-65-7) ; Tryptophan (8DUH1N11BX)
    Language English
    Publishing date 2014
    Publishing country England
    Document type Editorial
    ZDB-ID 2481014-9
    ISSN 1752-0371 ; 1752-0363
    ISSN (online) 1752-0371
    ISSN 1752-0363
    DOI 10.2217/bmm.14.11
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  10. Article ; Online: A Classical Molecular Dynamics Simulation Study of Interfacial and Bulk Solution Aggregation Properties of Dirhamnolipids.

    Luft, Charles M / Munusamy, Elango / Pemberton, Jeanne E / Schwartz, Steven D

    The journal of physical chemistry. B

    2020  Volume 124, Issue 5, Page(s) 814–827

    Abstract: The rhamnolipids are a unique class of biosurfactants produced by the ... ...

    Abstract The rhamnolipids are a unique class of biosurfactants produced by the bacteria
    MeSH term(s) Air ; Glycolipids/chemistry ; Hydrophobic and Hydrophilic Interactions ; Micelles ; Molecular Conformation ; Molecular Dynamics Simulation ; Surface-Active Agents/chemistry ; Water/chemistry
    Chemical Substances Glycolipids ; Micelles ; Surface-Active Agents ; rhamnolipid hemolysin, Pseudomonas aeruginosa ; Water (059QF0KO0R)
    Language English
    Publishing date 2020-01-28
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, Non-P.H.S.
    ISSN 1520-5207
    ISSN (online) 1520-5207
    DOI 10.1021/acs.jpcb.9b08800
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