Knowledge and attitudes about newborn screening for Fabry disease

Newborn screening is a public health program that identifies newborns who are at risk of having a life-threatening condition that will affect their health in infancy or childhood. Fabry disease is an X-linked lysosomal storage disorder with a variable age of onset from childhood through adulthood that was recently added to a few states’ newborn screening panels. Research on patient attitudes towards newborn screening for Fabry disease has been limited and this qualitative study aimed to gain a more complete understanding of the reasoning of adults with Fabry disease regarding the appropriateness of newborn screening for Fabry disease, their knowledge of newborn screening, and their experiences with Fabry disease. Participants were recruited from Children’s Hospital of Pittsburgh of UPMC’s Lysosomal Storage Disorders Clinic and six adults who have Fabry disease were interviewed. These interviews were transcribed and thematic analysis revealed six themes: influences of clinical spectrum and severity of Fabry disease, support systems, family dynamics, impact of timing of diagnosis and treatment availability on attitudes towards newborn screening, knowledge and attitudes towards newborn screening for Fabry disease, and impact of earlier diagnosis. Based on their personal experiences with Fabry disease, all participants were in favor of newborn screening for Fabry disease. Participants’ experiences with Fabry disease also reflected aspects of their family dynamics. The results of this qualitative study can inform genetic counseling practice for Fabry disease and future studies on NBS for Fabry disease. The opinions of stakeholders, including patients affected by the condition, are of public health significance and the results of this study can inform public health decisions as state legislators and state newborn screening programs consider whether to include Fabry disease on their state’s newborn screening panel

Table_1_Publishing in English or Chinese: a qualitative analysis of Chinese researchers’ academic language choice.DOCX

Non-native language scholars often struggle to choose between English and their native language in scholarly publishing. This study aims to identify the mechanism by which journal attributes influence language choice by investigating the perspectives of 18 Chinese scholars through semi-structured interviews. Drawing on grounded theory, this study develops a model for how journal attributes influence researchers’ language preferences. We find that journal attributes influence researchers’ perceived value which, in turn, affects their particular language choice, with contextual factors playing a moderating role. By examining the motivations underlying Chinese scholars’ language choice, this study provides a critical understanding of the factors shaping their decision-making processes. These findings have significant implications for Chinese scholars, policymakers, and journal operators, shedding light on the issue of discrimination in academic publishing. Addressing these concerns is crucial for fostering a fair and inclusive academic environment.</p

Dewetting Effects in Poly(vinylidene fluoride-trifluoroethylene) Thin Films on Poly(3-hexylthiophene) Substrates

Bilayers of ferroelectric polymers [poly(vinylidene fluoride-trifluoroethylene), PVDF-TrFE] on semiconducting poly(3-hexylthiophene) (P3HT) substrates have been prepared by sequential spin coating. When creating thin layers of PVDF-TrFE from its solution in methyl ether ketone (MEK), they exhibit dewetting in the form of holes for thicker P3HT substrates, whereas they form continuous layers on thinner P3HT substrates. The dispersive and polar components of the surface tension of the different P3HT substrates were obtained through contact angle measurements. An estimation of the shape of the disjoining pressure as a function of thickness of a liquid film of MEK on top of the different P3HT substrates was obtained. Through these estimations, we observe that the stability region for continuous film formation shifts toward higher thicknesses for the samples where experimentally the holes are observed. This work provides understanding on the mechanism of stable film formation and effective tools to control the formation of holes, in functional polymer bilayers, of special importance in the fabrication of organic thin film-based devices

Cellulose bridged carbonate hydroxyapatite nanoparticles as novel adsorbents for efficient Cr(VI) removal

Removal of Cr(VI) from aquatic environment is crucial due to its bioaccumulation, high mobility and strong toxicity. In this work, a novel nano-adsorbent consisting of carbonate hydroxyapatite (CHAP) and carboxymethyl cellulose (CMC) was designed and successfully synthesized by a simple route for the uptake of Cr(VI). The synthetic CMC bridged CHAP (CMC-CHAP) material exhibited higher surface area (122.90 m2/g) and adsorption capacity for Cr(VI) (13.45 mg/g) than other apatite based adsorbents. The adsorption process of Cr(VI) by CMC-CHAP was in line with the Langmuir isotherm model and pseudo-second-order kinetic model. The calculated thermodynamic parameters showed that the adsorption of Cr(VI) on CMC-CHAP was a spontaneously endothermic process. In addition, CMC-CHAP had good ability to remove Cr(VI) under the interference of coexisting ions, and possessed remarkable reusability. Based on the pH-effect experiment and x-ray photoelectron spectroscopy characterization, the removal of Cr(VI) by CMC-CHAP was considered to be synergistic processes of electrostatic attraction, reduction reaction and chelation. This work provided new insights into performance optimization and application potential of CMC-CHAP on Cr(VI) removal from water.</p

DBU-Promoted Cyclization of <i>ortho</i>-(3-Hydroxy-1-alkynyl)benzamide: Synthesis of <i>trans</i>-3,4-Dihydroisoquinolin-1(2<i>H</i>)-ones and (<i>E</i>)-4-(1-Alkenyl)isoquinolin-1(2<i>H</i>)-ones

DBU-promoted cyclization of <i>ortho</i>-(3-hydroxy-1-alkynyl)­benzamide is presented, providing an efficient method for the synthesis of <i>trans</i>-3,4-dihydroisoquinolin-1­(2<i>H</i>)-ones and (<i>E</i>)-4-(1-alkenyl)­isoquinolin-1­(2<i>H</i>)-ones under mild conditions

Growth curve of passaged mouse IECs in culture.

<p>The log phase started after day 2 of the lag phase with a sharper inclination.</p

Observations on invasion of IECs by <i>Trichinella spiralis</i> infective larvae.

<p>(A) When <i>T. spiralis</i> infective larvae were inoculated onto monolayers of mouse IECs <i>in vitro</i>, the larvae invaded the cells, and their head and body resided in the cytoplasm of the syncytia composed of numerous IECs (showed as arrow). (B) After the removal of agarose, the cell monolayer was stained with propidium iodide (PI) and observed under a fluorescence microscope. Nuclei of the damaged cells were stained intensely and uniformly red, showing the serpentine trail left by the parasite. In contrast, nuclei of the live cells not invaded by the larvae were not stained. (C) After being stained with PI, the cell monolayer was fixed and reacted with rabbit immune sera against <i>T. spiralis</i> ES antigens and FITC-conjugated secondary antibody as described in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0027010#s2" target="_blank">Materials and Methods</a>. Green fluorescence was found in the cytoplasm of the damaged cells. (D) No fluorescence was found in the cells which were not invaded by the non-activated larvae.</p

Morphological characteristic and Immunofluorescence staining of fetal mouse IECs.

<p>(A) The IECs formed a tightly packed monolayer with typical cobblestone morphology (passage 8). (B) HE staining of IECs. (C) Immunofluorescence staining of IEC cytokeratins, cytokeratin 18 was clearly detected in the cytoplasm of IECs with a green color. (D) No green fluorescence in the cytoplasm of IECs was found and only the nucleus was stained red with propidium iodide (PI) in the negative controls.</p

Hematoxylin-and-eosin (HE) staining and immunofluorescence test (IFT) on the small intestines of mice infected with <i>Trichinella spiralis</i>.

<p>(A) The Kunming mice were orally infected with 300 <i>Trichinella spiralis</i> muscle larvae. After 18 hours, they were killed by anaesthetic inhalation with isoflurane, and their small intestines were fixed in 10% formaldehyde solution. HE staining showed that the larvae located at the crypt-villus junction (showed as arrow). (B and C) Different sections of the larvae at the crypt-villus junction were recognized by sera of the rabbits infected with <i>T. spiralis</i>, and exhibited green fluorescence (showed as arrows). The mouse small intestines exhibited only background red fluorescence (propidium iodide). (D) Longitudinal sections of the larvae (showed as arrows) were found in intestinal crypts (green fluorescence).</p

Cultured mouse primary intestinal epithelial cells under an inverted phase-contrast microscope.

<p>(A) The single crypts obtained with collagenase-hyaluronidase dissociation of mouse small intestine. (B) A few cells gradually migrated out around the crypts after 24 h. (C) The epithelial cells started to grow rapidly after 48 h, and multiple large colonies were formed at day 5. (D) Cells continued to grow until confluence was reached after 9 days.</p