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  1. Article ; Online: Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review.

    Lee, Stephanie G / Evans, Gareth / Stephen, Maddie / Goren, Rachel / Bondy, Melissa / Goodman, Steven

    American journal of medical genetics. Part A

    2024  

    Abstract: In 2002, heterozygous suppressor of fused variants ( ... ...

    Abstract In 2002, heterozygous suppressor of fused variants (SUFU
    Language English
    Publishing date 2024-01-28
    Publishing country United States
    Document type Journal Article ; Review
    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.63496
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1376/A: Show issues Location:
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  2. Article ; Online: Association Between SGLT2 Inhibitor Use and Change in Hemoglobin Among Adults with Diabetes: A Nationwide Cohort Study.

    Lassen, Mats C Højbjerg / Colacci, Michael / Pareek, Manan / Lee, Stephanie G / Gislason, Gunnar / Fralick, Michael / Biering-Sørensen, Tor

    Journal of general internal medicine

    2024  

    Language English
    Publishing date 2024-04-09
    Publishing country United States
    Document type Letter
    ZDB-ID 639008-0
    ISSN 1525-1497 ; 0884-8734
    ISSN (online) 1525-1497
    ISSN 0884-8734
    DOI 10.1007/s11606-024-08640-x
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    Zs.A 2205: Show issues Location:
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  3. Article: Sleep-related motor disorders.

    Wong, Stephanie G / Vorakunthada, Yuttiwat / Lee-Iannotti, Joyce / Johnson, Karin G

    Handbook of clinical neurology

    2023  Volume 195, Page(s) 383–397

    Abstract: Sleep-related motor disorders include non-rapid-eye movement (NREM) sleep parasomnias, rapid-eye movement (REM), sleep parasomnias including REM sleep behavior disorder (RBD), isolated motor phenomena in sleep, and periodic limb movement disorder. ... ...

    Abstract Sleep-related motor disorders include non-rapid-eye movement (NREM) sleep parasomnias, rapid-eye movement (REM), sleep parasomnias including REM sleep behavior disorder (RBD), isolated motor phenomena in sleep, and periodic limb movement disorder. Restless legs syndrome (RLS) occurs while awake but is closely related to sleep and has a circadian pattern. The pontine sublaterodorsal tegmental nucleus has an important role in aligning motor control with sleep states, and dysfunction in this region can explain motor activities including cataplexy and loss of REM atonia seen in REM sleep behavior disorder. This chapter begins with a review of motor control in sleep. The rest of the chapter summarizes the clinical presentation, epidemiology, differential and treatment of NREM, REM, and isolated sleep-related motor disorders as well as restless legs syndrome.
    MeSH term(s) Humans ; REM Sleep Behavior Disorder ; Restless Legs Syndrome/epidemiology ; Motor Disorders ; Sleep ; Parasomnias/epidemiology ; Parasomnias/therapy
    Language English
    Publishing date 2023-08-10
    Publishing country Netherlands
    Document type Review ; Journal Article
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/B978-0-323-98818-6.00012-1
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  4. Article ; Online: Differential RNA Expression Between Metastatic and Primary Neuroblastoma Cells.

    Lee, William G / Asuelime, Grace E / Asuelime-Smith, Matthew B T / Chen, Stephanie Y / Kim, Eugene S

    The Journal of surgical research

    2024  Volume 298, Page(s) 240–250

    Abstract: Introduction: Neuroblastoma (NB) is the most common extra-cranial malignancy in children. Poor survival in high-risk NB is attributed to recurrent metastatic disease. To better study metastatic disease, we used a novel mouse model to investigate ... ...

    Abstract Introduction: Neuroblastoma (NB) is the most common extra-cranial malignancy in children. Poor survival in high-risk NB is attributed to recurrent metastatic disease. To better study metastatic disease, we used a novel mouse model to investigate differential gene expression between primary tumor cells and metastatic cells. We hypothesized that metastatic NB cells have a different gene expression profile from primary tumor cells and cultured cells.
    Methods: Using three human NB cell lines (NGP, CHLA255, and SH-SY5Y), orthotopic xenografts were established in immunodeficient nod/scid gamma mice via subcapsular renal injection. Mice were sacrificed and NB cells were isolated from the primary tumor and from sites of metastasis (bone marrow, liver). RNA sequencing, gene set analysis, and pathway analysis were performed to identify differentially expressed genes and molecular pathways in the metastatic cells compared to primary tumor cells.
    Results: There were 266 differentially expressed genes in metastatic tumor cells (bone marrow and liver combined) compared to primary tumor cells. The top upregulated gene was KCNK1 and the top downregulated genes were PDE7B and NEBL. Top upregulated pathways in the metastatic cells were involved in ion transport, cell signaling, and cell proliferation. Top downregulated pathways were involved in DNA synthesis, transcription, and cellular metabolism.
    Conclusions: In metastatic NB cells, our study identified the upregulation of biologic processes involved in cell cycle regulation, cell proliferation, migration, and invasion. Ongoing studies aim to validate downstream translation of these genomic alterations, as well as target these pathways to more effectively suppress and inhibit recurrent metastatic disease in NB.
    Language English
    Publishing date 2024-04-16
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80170-7
    ISSN 1095-8673 ; 0022-4804
    ISSN (online) 1095-8673
    ISSN 0022-4804
    DOI 10.1016/j.jss.2024.03.032
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    Zs.A 178: Show issues Location:
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  5. Article: Perfusion Profiles May Differ Between Asymptomatic Versus Symptomatic Internal Carotid Artery Occlusion.

    Chang, Ting-Yu / Christensen, Soren / Mlynash, Michael / Heit, Jeremy J / Marks, Michael P / Lee, Sarah / McCullough-Hicks, Margy E / Ostojic, Lili Velickovic / Kemp, Stephanie / Albers, Gregory W / Srivatsan, Aditya / Lee, Tsong-Hai / Lansberg, Maarten G

    Journal of stroke

    2024  Volume 26, Issue 1, Page(s) 108–111

    Language English
    Publishing date 2024-01-30
    Publishing country Korea (South)
    Document type Journal Article
    ZDB-ID 2814366-8
    ISSN 2287-6405 ; 2287-6391
    ISSN (online) 2287-6405
    ISSN 2287-6391
    DOI 10.5853/jos.2023.02768
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  6. Article ; Online: Integration of pan-cancer cell line and single-cell transcriptomic profiles enables inference of therapeutic vulnerabilities in heterogeneous tumors.

    Zhang, Weijie / Maeser, Danielle / Lee, Adam / Huang, Yingbo / Gruener, Robert F / Abdelbar, Israa G / Jena, Sampreeti / Patel, Anand G / Huang, R Stephanie

    Cancer research

    2024  

    Abstract: Single-cell RNA-sequencing (scRNA-seq) greatly advanced the understanding of intratumoral heterogeneity by identifying distinct cancer cell subpopulations. However, translating biological differences into treatment strategies is challenging due to a lack ...

    Abstract Single-cell RNA-sequencing (scRNA-seq) greatly advanced the understanding of intratumoral heterogeneity by identifying distinct cancer cell subpopulations. However, translating biological differences into treatment strategies is challenging due to a lack of tools to facilitate efficient drug discovery that tackles heterogeneous tumors. Developing such approaches requires accurate prediction of drug response at the single-cell level to offer therapeutic options to specific cell subpopulations. Here, we developed a transparent computational framework (nicknamed scIDUC) to predict therapeutic efficacies on an individual-cell basis by integrating single-cell transcriptomic profiles with large, data-rich pan-cancer cell line screening datasets. This method achieved high accuracy in separating cells into their correct cellular drug response statuses. In three distinct prospective tests covering different diseases (rhabdomyosarcoma, pancreatic ductal adenocarcinoma, and castration-resistant prostate cancer), the predicted results using scIDUC were accurate and mirrored biological expectations. In the first two tests, the framework identified drugs for cell subpopulations that were resistant to standard-of-care (SOC) therapies due to intrinsic resistance or tumor microenvironmental effects, and the results showed high consistency with experimental findings from the original studies. In the third test using newly generated SOC therapy resistant cell lines, scIDUC identified efficacious drugs for the resistant line, and the predictions were validated with in vitro experiments. Together, this study demonstrates the potential of scIDUC to quickly translate scRNA-seq data into drug responses for individual cells, displaying the potential as a tool to improve treatment of heterogenous tumors.
    Language English
    Publishing date 2024-04-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1432-1
    ISSN 1538-7445 ; 0008-5472
    ISSN (online) 1538-7445
    ISSN 0008-5472
    DOI 10.1158/0008-5472.CAN-23-3005
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  7. Article: Coherence in Polycrystalline Thin Films of Twisted Molecular Crystals.

    Yang, Yongfan / Shtukenberg, Alexander G / Zhou, Hengyu / Ruzie, Christian / Geerts, Yves Henri / Lee, Stephanie S / Kahr, Bart

    Chemistry of materials : a publication of the American Chemical Society

    2024  Volume 36, Issue 2, Page(s) 881–891

    Abstract: Helicoidal crystallites in rhythmically banded spherulites manifest spectacular optical patterns in small molecules and polymers. It is shown that concentric optical bands indicating crystallographic orientations typically lose coherence (in-phase ... ...

    Abstract Helicoidal crystallites in rhythmically banded spherulites manifest spectacular optical patterns in small molecules and polymers. It is shown that concentric optical bands indicating crystallographic orientations typically lose coherence (in-phase twisting) with growth from the center of nucleation. Here, coherence is shown to increase as the twist period decreases for seven molecular crystals grown from the melt. This dependence was correlated to crystallite fiber thickness and length, as well as crystallite branching frequency, a parameter that was extracted from scanning electron micrographs, and supported by numerical simulations. Hole mobilities for 2,5-didodecyl-3,6-di(thiophen-2-yl)pyrrolo[3,4-c]pyrrole-1,4(2H,5H)-dione (DPP-C12) measured by using organic field-effect transistors demonstrated that more incoherent boundaries between optical bands in spherulites lead to higher charge transport for films with the same twist period. This was rationalized by combining our growth model with electrodynamic simulations. This work illustrates the emergence of complexity in crystallization processes (spherulite formation) that arises in the extra variable of helicoidal radial twisting. The details of the patterns analyzed here link the added complexity in crystal growth to the electronic and optical properties of the thin films.
    Language English
    Publishing date 2024-01-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1500399-1
    ISSN 1520-5002 ; 0897-4756
    ISSN (online) 1520-5002
    ISSN 0897-4756
    DOI 10.1021/acs.chemmater.3c02740
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  8. Article ; Online: Optimizing the Postoperative Management of Children Undergoing Resection of High-Risk Abdominal Neuroblastoma.

    Lee, William G / Lascano, Danny / Palmer, Samiza B / Chen, Stephanie Y / Mack, Shale J / Sudharshan, Rasika / Han, Jane S / Kim, Eugene S

    The American surgeon

    2024  , Page(s) 31348241227199

    Abstract: Background: Surgical resection is a mainstay of treatment in high-risk neuroblastoma (HR-NB), but there exists wide variability in perioperative management practices. The aim of this study was to evaluate two standardized adult perioperative enhanced ... ...

    Abstract Background: Surgical resection is a mainstay of treatment in high-risk neuroblastoma (HR-NB), but there exists wide variability in perioperative management practices. The aim of this study was to evaluate two standardized adult perioperative enhanced recovery practices (ERPs) in pediatric patients undergoing open resection of abdominal HR-NB.
    Methods: All patients with abdominal HR-NB surgically resected at a free-standing children's hospital between 12/2010 and 7/2020 were retrospectively reviewed. Perioperative ERPs of interest included avoidance of routine nasogastric tube (NGT) use and the use of neuraxial anesthesia. Primary outcomes included time to enteral intake, urinary catheter use, opioid utilization, and length of stay (LOS).
    Results: Overall, 37 children, median age 33 months (IQR: 20-48 months), were identified. Avoidance of an NGT allowed for earlier feeding after surgery (
    Conclusion: Children undergoing open resection of abdominal HR-NB initiated diet sooner when an NGT was not left postoperatively, and the need for a urinary catheter was significantly higher in patients who received neuraxial anesthesia. However, these two ERP components did not decrease postoperative LOS. To optimize the postoperative management of NB patients, postoperative NGTs should be avoided, while the benefit of neuraxial anesthesia is less clear as it necessitates the placement of a urinary catheter without decreasing opioid utilization.
    Language English
    Publishing date 2024-01-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 202465-2
    ISSN 1555-9823 ; 0003-1348
    ISSN (online) 1555-9823
    ISSN 0003-1348
    DOI 10.1177/00031348241227199
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  9. Article ; Online: Coagulopathy associated with COVID-19.

    Lee, Stephanie G / Fralick, Michael / Sholzberg, Michelle

    CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne

    2020  Volume 192, Issue 21, Page(s) E583

    MeSH term(s) Blood Coagulation Disorders/etiology ; Blood Coagulation Disorders/therapy ; COVID-19 ; Coronavirus Infections/complications ; Humans ; Pandemics ; Pneumonia, Viral/complications
    Keywords covid19
    Language English
    Publishing date 2020-05-01
    Publishing country Canada
    Document type Journal Article
    ZDB-ID 215506-0
    ISSN 1488-2329 ; 0008-4409 ; 0820-3946
    ISSN (online) 1488-2329
    ISSN 0008-4409 ; 0820-3946
    DOI 10.1503/cmaj.200685
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  10. Article ; Online: [No title information]

    Lee, Stephanie G / Fralick, Michael / Sholzberg, Michelle

    CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne

    2020  Volume 192, Issue 45, Page(s) E1424

    Title translation Coagulopathie associée à la COVID-19.
    MeSH term(s) Betacoronavirus ; Blood Coagulation Disorders/diagnosis ; Blood Coagulation Disorders/therapy ; Blood Coagulation Disorders/virology ; COVID-19 ; Coronavirus Infections/complications ; Coronavirus Infections/diagnosis ; Coronavirus Infections/therapy ; Humans ; Pandemics ; Pneumonia, Viral/complications ; Pneumonia, Viral/diagnosis ; Pneumonia, Viral/therapy ; Prognosis ; SARS-CoV-2
    Keywords covid19
    Language French
    Publishing date 2020-11-09
    Publishing country Canada
    Document type Journal Article
    ZDB-ID 215506-0
    ISSN 1488-2329 ; 0008-4409 ; 0820-3946
    ISSN (online) 1488-2329
    ISSN 0008-4409 ; 0820-3946
    DOI 10.1503/cmaj.200685-f
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