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  1. Artikel ; Online: Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.

    Stephens, Sara B / Novy, Tyler / Spurzem, Gabrielle N / Jacob, Benjamin / Beecroft, Taylor / Soludczyk, Emily / Kozel, Beth A / Weigand, Justin / Morris, Shaine A

    Journal of the American Heart Association

    2024  Band 13, Heft 8, Seite(n) e034048

    Abstract: Background: We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams-Beuren syndrome (WS).: Methods and results: This retrospective cohort study included patients ...

    Abstract Background: We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams-Beuren syndrome (WS).
    Methods and results: This retrospective cohort study included patients with SVAS at our institution who had a negative evaluation for WS from May 1991 to September 2021. SVAS was defined as (1) peak supravalvar velocity of ≥2 meters/second, (2) sinotubular junction or ascending aortic
    Conclusions: When WS is excluded, gene sequencing for SVAS is high yield, with the highest yield for the
    Mesh-Begriff(e) Humans ; Williams Syndrome/diagnosis ; Williams Syndrome/genetics ; Williams Syndrome/surgery ; Aortic Stenosis, Supravalvular/diagnosis ; Aortic Stenosis, Supravalvular/genetics ; Aortic Stenosis, Supravalvular/congenital ; Retrospective Studies ; Genetic Testing ; Aorta
    Sprache Englisch
    Erscheinungsdatum 2024-04-09
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 2653953-6
    ISSN 2047-9980 ; 2047-9980
    ISSN (online) 2047-9980
    ISSN 2047-9980
    DOI 10.1161/JAHA.123.034048
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Cooperative Adsorption of Trehalose to DPPC Monolayers at the Water–Air Interface Studied with Vibrational Sum Frequency Generation

    Link, Katie A / Spurzem, Gabrielle N / Tuladhar, Aashish / Chase, Zizwe / Wang, Zheming / Wang, Hongfei / Walker, Robert A

    Journal of physical chemistry. 2019 Sept. 25, v. 123, no. 42

    2019  

    Abstract: A combination of surface tension, surface-specific vibrational spectroscopy, and differential scanning calorimetry experiments was performed to examine the ability of lipid films to enrich interfacial organic content by attracting soluble, neutral ... ...

    Abstract A combination of surface tension, surface-specific vibrational spectroscopy, and differential scanning calorimetry experiments was performed to examine the ability of lipid films to enrich interfacial organic content by attracting soluble, neutral saccharides from bulk aqueous solution. This “cooperative adsorption” hypothesis has been proposed as a possible source of the high organic fractions found in sea spray aerosols and is believed to be responsible for cryoprotection in some organisms. Experiments described in this work show that the neutral disaccharide trehalose (Tre) is drawn to lipid films composed of dipalmitoylphosphatidylcholine (DPPC), a saturated lipid that is a major component of most eukaryotic cells. The effects of Tre on DPPC monolayer structure and organization were tested with tightly packed monolayers in the two-dimensional solid phase (40 Ų/molecule) and more expanded monolayers in the two-dimensional liquid condensed phase (55 Ų/molecule). Surface tension data show that DPPC monolayer behavior remains largely unchanged until Tre bulk concentrations are sufficiently high (≥50 mM). In contrast, surface-specific vibrational sum frequency spectra show that when Tre bulk concentrations are ≥10 mM, DPPC monolayers in their liquid condensed state (55 Ų/molecule) became more ordered, implying relatively strong noncovalent interactions between the two species. Tre also induces changes in DPPC bilayer behavior as evidenced by a gel-to-liquid crystalline phase transition temperature that increases with increasing Tre concentration. This result suggests that Tre associates with the DPPC headgroups in very specific ways leading to partial dehydration. Together, these results support the cooperative adsorption mechanism under some circumstances, namely, that there is a minimum aqueous phase Tre concentration required to induce observable structural changes in a lipid monolayer and that these effects are most pronounced with DPPC monolayers in their liquid condensed state compared to those of a tightly packed two-dimensional solid.
    Schlagwörter adsorption ; aerosols ; aqueous solutions ; differential scanning calorimetry ; eukaryotic cells ; lipids ; liquid-air interface ; liquids ; phase transition ; spectroscopy ; surface tension ; temperature ; trehalose
    Sprache Englisch
    Erscheinungsverlauf 2019-0925
    Umfang p. 8931-8938.
    Erscheinungsort American Chemical Society
    Dokumenttyp Artikel
    ISSN 1520-5207
    DOI 10.1021/acs.jpcb.9b07770
    Datenquelle NAL Katalog (AGRICOLA)

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  3. Artikel ; Online: Cooperative Adsorption of Trehalose to DPPC Monolayers at the Water-Air Interface Studied with Vibrational Sum Frequency Generation.

    Link, Katie A / Spurzem, Gabrielle N / Tuladhar, Aashish / Chase, Zizwe / Wang, Zheming / Wang, Hongfei / Walker, Robert A

    The journal of physical chemistry. B

    2019  Band 123, Heft 42, Seite(n) 8931–8938

    Abstract: A combination of surface tension, surface-specific vibrational spectroscopy, and differential scanning calorimetry experiments was performed to examine the ability of lipid films to enrich interfacial organic content by attracting soluble, neutral ... ...

    Abstract A combination of surface tension, surface-specific vibrational spectroscopy, and differential scanning calorimetry experiments was performed to examine the ability of lipid films to enrich interfacial organic content by attracting soluble, neutral saccharides from bulk aqueous solution. This "cooperative adsorption" hypothesis has been proposed as a possible source of the high organic fractions found in sea spray aerosols and is believed to be responsible for cryoprotection in some organisms. Experiments described in this work show that the neutral disaccharide trehalose (Tre) is drawn to lipid films composed of dipalmitoylphosphatidylcholine (DPPC), a saturated lipid that is a major component of most eukaryotic cells. The effects of Tre on DPPC monolayer structure and organization were tested with tightly packed monolayers in the two-dimensional solid phase (40 Å
    Mesh-Begriff(e) 1,2-Dipalmitoylphosphatidylcholine/chemistry ; Adsorption ; Air ; Calorimetry, Differential Scanning ; Nonlinear Optical Microscopy ; Trehalose/chemistry ; Water
    Chemische Substanzen Water (059QF0KO0R) ; 1,2-Dipalmitoylphosphatidylcholine (2644-64-6) ; Trehalose (B8WCK70T7I)
    Sprache Englisch
    Erscheinungsdatum 2019-10-11
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ISSN 1520-5207
    ISSN (online) 1520-5207
    DOI 10.1021/acs.jpcb.9b07770
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Organic Enrichment at Aqueous Interfaces: Cooperative Adsorption of Glucuronic Acid to DPPC Monolayers Studied with Vibrational Sum Frequency Generation.

    Link, Katie A / Spurzem, Gabrielle N / Tuladhar, Aashish / Chase, Zizwe / Wang, Zheming / Wang, Hongfei / Walker, Robert A

    The journal of physical chemistry. A

    2019  Band 123, Heft 26, Seite(n) 5621–5632

    Abstract: Surface tension, surface-specific vibrational spectroscopy and differential scanning calorimetry measurements were all used to test cooperative adsorption of glucuronic acid (GU) to DPPC monolayers adsorbed to the aqueous/vapor interface. Experiments ... ...

    Abstract Surface tension, surface-specific vibrational spectroscopy and differential scanning calorimetry measurements were all used to test cooperative adsorption of glucuronic acid (GU) to DPPC monolayers adsorbed to the aqueous/vapor interface. Experiments were performed using GU solutions prepared in Millipore water and in carbonate/bicarbonate solutions buffered to a pH of 9.0. The effects of GU on DPPC monolayer structure and organization were carried out with tightly packed monolayers (40 Å
    Sprache Englisch
    Erscheinungsdatum 2019-06-24
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ISSN 1520-5215
    ISSN (online) 1520-5215
    DOI 10.1021/acs.jpca.9b02255
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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