bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel missense mutation in P4HB causes mild osteogenesis imperfecta
Authors: Li Lujiao , Zhao Dichen , Zheng Wenbin , Wang Ou , Jiang Yan , Xia Weibo , Xing Xiaoping , Li Mei 
Published: April 2019

Abstract
Osteogenesis imperfecta (OI) is a rare heritable bone disorder characterized by low bone mineral density (BMD), recurrent bone fractures, and progressive bone deformities. P4HB encodes protein disulfide isomerase (PDI) and is identified as a novel candidate gene of OI. The purposes of the present study are to detect pathogenic mutation, to evaluate the phenotypes of a Chinese family with mild OI, and to investigate the effects of bisphosphonates on bone of the proband. We detected the pathogenic mutation by next generation sequencing and Sanger sequencing. Laboratory and radiological investigations were conducted to evaluate the phenotypes. The proband was a 12-year-old girl with low BMD, history of recurrent non-traumatic fractures, slight scoliosis, with bluish grey sclera and ligamentous laxity. Her father suffered from one fragility fracture and slight wedge changes of vertebras, with bluish grey sclera. We identified a novel heterozygous missense mutation (c.692A&gt;C, p.His231Pro) in P4HB in the proband and her father. This mutation was predicted to affect the combination of PDI with type I procollagen and lead to the disorder of its triple helix formation. Bisphosphonates were effective in reducing bone resorption and increasing BMD of the proband with well tolerance. In conclusion, we identified a novel mutation in P4HB in a Chinese family with mild OI, which expanded the genotypic and phenotypic spectrum of OI. Bisphosphonates were effective to this extremely rare OI induced by P4HB mutation.
Two years with comet 67P/Churyumov-Gerasimenko: H2O, CO2, and CO as seen by the ROSINA/RTOF instrument of Rosetta
Authors: Hoang M. , Garnier P. , Gourlaouen H. , Lasue J. , Rème H. , Altwegg K. , Balsiger H. , Beth A. , Calmonte U. , Fiethe B. , Galli A. , Gasc S. , Jäckel A. , Korth A. , Le Roy L. , Mall U. , Rubin M. , Sémon T. , Tzou C.-Y. , Waite J. H. , Wurz P. 
Published: April 2019

Context. The ESA Rosetta mission investigated the environment of comet 67P/Churyumov-Gerasimenko (hereafter 67P) from August 2014 to September 2016. One of the experiments on board the spacecraft, the Rosetta Orbiter Spectrometer for Ion and Neutral Analysis (ROSINA) included a COmet Pressure Sensor (COPS) and two mass spectrometers to analyze the composition of neutrals and ions, the Reflectron-type Time-Of-Flight mass spectrometer (RTOF), and the Double Focusing Mass Spectrometer (DFMS).
Aims. RTOF species detections cover the whole mission. This allows us to study the seasonal evolution of the main volatiles (H2O, CO2, and CO) and their spatial distributions.
Methods. We studied the RTOF dataset during the two-year long comet escort phase focusing on the study of H2O, CO2, and CO. We also present the detection by RTOF of O2, the fourth main volatile recorded in the coma of 67P. This work includes the calibration of spectra and the analysis of the signature of the four volatiles. We present the analysis of the dynamics of the main volatiles and visualize the distribution by projecting our results onto the surface of the nucleus. The temporal and spatial heterogeneities of H2O, CO2, and CO are studied over the two years of mission, but the O2 is only studied over a two-month period.
Results. The global outgassing evolution follows the expected asymmetry with respect to perihelion. The CO/CO2 ratio is not constant through the mission, even though both species appear to originate from the same regions of the nucleus. The outgassing of CO2 and CO was more pronounced in the southern than in the northern hemisphere, except for the time from August to October 2014. We provide a new and independent estimate of the relative abundance of O2.
Conclusions. We show evidence of a change in molecular ratios throughout the mission. We observe a clear north-south dichotomy in the coma composition, suggesting a composition dichotomy between the outgassing layers of the two hemispheres. Our work indicates that CO2 and CO are located on the surface of the southern hemisphere as a result of the strong erosion during the previous perihelion. We also report a cyclic occurrence of CO and CO2 detections in the northern hemisphere. We discuss two scenarios: devolatilization of transported wet dust grains from south to north, and different stratigraphy for the upper layers of the cometary nucleus between the two hemispheres.
Extensive Embolization of Splanchnic Artery Aneurysms due to Segmental Arterial Mediolysis
Authors: Najafi Arash , Sheikh Gabriel Tobias , Binkert Christoph 
Published: April 2019

Aim Segmental arterial mediolysis (SAM) is a rare non-atherosclerotic, non-inflammatory, non-infectious arteriopathy in middle-aged patients that tends to affect medium-sized splanchnic arteries typically leading to dissecting aneurysms which in case of rupture have a high mortality. Treatment options include watchful waiting and endovascular or surgical intervention. There are no official treatment guidelines and to the best of our knowledge, there has not been any report of extensive exclusion of multiple splanchnic vessel regions in affected patients to date.
Materials and Methods We retrospectively examined the outcome of extensive splanchnic embolization in four patients suffering from SAM between 2011 and 2016 with follow-up periods of up to 7 years.
Results One patient presented with abdominal pain due to rupture of aneurysms of the pancreaticoduodenal arcade, one with abdominal pain due to dissection, and two were clinically asymptomatic but displayed rapidly progressing disease over the course of 12 months. All patients were treated with complete exclusion of the diseased vessel segments by coiling all branches to and from the diseased segment. In three cases the main hepatic artery was excluded completely. In one case, the complete vascular bed of the celiac axis was excluded by coiling the distal vessel branches and placing a stent graft over the orifice of the celiac trunk. During a follow-up period of a minimum of 2 and a maximum of 7 years after intervention, there were no immediate or long-term complications except for a temporary arterio-portal fistula. Interestingly, no new diseased areas of SAM were detected afterwards.
Conclusion Extensive endovascular exclusion of the entire diseased arterial segment with coils seems to be a safe and effective treatment option in patients with SAM presenting with ruptured or rapidly growing aneurysms. Provided that patients have normal liver function and proper portal venous flow, risk of hepatobiliary complications seems to be low even after extensive embolization.
Key points:
Citation Format
Legal Issues in Gamete and Embryo Cryopreservation: An Overview
Authors: Crockin Susan , Gottschalk Kathryn 
Published: April 2019

AbstractThis article provides an overview of existing and developing law surrounding IVF embryos and those who handle them. It discusses what law and legal theories of liability may apply to embryology labs, and gamete and embryo banks in the context of embryo loss, abandonment, shipping and implantation. It explores how often intertwined theories of law have been applied to this unique field, including contract, informed consent, health, tort and Constitutional law. Recent so-called “Personhood” initiatives are reviewed for their impact on ART practice. The article also explores how legal principles related to patient choice, autonomy, informed consent, and the various rights and responsibilities of providers and patients have been applied to this area of medicine which is unique both because it involves at least two patients and due to the singular nature and reproductive potential of ex-utero and cryopreserved embryos and gametes. Through an examination of largely US judicial and statutory perspectives and trends, the article assesses the complexities of the impact of the law on, and attempts to offers guidance to, those involved in this continually evolving and challenging field of medicine.
News translators’ para-textual visibility in South Korea
Authors: Hong Jungmin 
Published: April 2019

Abstract
This study aims to examine news translators’ para-textual visibility suggested through their names and other indicators of identity in TTs to gain clues to their status within media organizations. For this purpose, (1) whether translators’ identity is given in TTs, (2) what type of information, if any, is provided, and (3) how it is presented in terms of location, size, colour and space is explored. The corresponding data for ST writers, particularly reporters, are also analysed for comparison. The findings suggest that while more than half of the 11 organisations analysed present the translators’ identity in some form in the TTs, the full name is provided only by two organizations with one presenting the title of translators as a reporter and most of the identity indicators are visible only when readers scroll down several times to reach them. The identity indicators of reporters and other contributors, on the other hand, are provided in a very detailed and conspicuous manner. The findings show that translators, despite being one of the key contributors in news production, remain considerably invisible in the very texts they produce, indicating that they are denied the recognition and credit they deserve within media organisations, which can in turn reinforce their low status.
How should culture be rendered in subtitling and dubbing?
Authors: Božović Petar 
Published: April 2019

Abstract
Empirical reception research in audiovisual translation (AVT) has long been neglected as most previous studies focused primarily on features of AVT as a product and the producers of AVT, but not on end-users. The importance of these studies is emphasized by the fact that AV content is designed for target audiences. Knowing their preferences, expectations and needs can inform the industry and, thus, increase positive reception, placement and usability of the product. The present contribution aims at answering the question of whether there is a difference in preferences when it comes to translation strategies used for rendering the elements of culture (EC) in two different AVT modalities (subtitling and dubbing) and what could be the underlying reasons for it. For this purpose, we conducted an experiment with 136 participants among the undergraduate students at two universities in Montenegro. Results indicate that end-users have different general preferences and expectations for these modalities. We hypothesize that the observed differences are related to the “vulnerability” of subtitling. Furthermore, fluctuations from the general preference in subtitling have been noted in monocultural ECs in connection with encodedness of the EC in source text humor. This shows that industry’s translation guidelines should be modality-specific and that an over-simplistic approach to the treatment of such a complex issue as rendering culture within certain modalities should be avoided.
Metabolic signature of extracellular vesicles depends on the cell culture conditions
Authors: Palviainen Mari , Saari Heikki , Kärkkäinen Olli , Pekkinen Jenna , Auriola Seppo , Yliperttula Marjo , Puhka Maija , Hanhineva Kati , Siljander Pia R.‐M. 
Published: April 2019

ABSTRACTOne of the greatest bottlenecks in extracellular vesicle (EV) research is the production of sufficient material in a consistent and effective way using in vitro cell models. Although the production of EVs in bioreactors maximizes EV yield in comparison to conventional cell cultures, the impact of their cell growth conditions on EVs has not yet been established. In this study, we grew two prostate cancer cell lines, PC‐3 and VCaP, in conventional cell culture dishes and in two‐chamber bioreactors to elucidate how the growth environment affects the EV characteristics. Specifically, we wanted to investigate the growth condition‐dependent differences by non‐targeted metabolite profiling using liquid chromatography–mass spectrometry (LC–MS) analysis. EVs were also characterized by their morphology, size distribution, and EV protein marker expression, and the EV yields were quantified by NTA. The use of bioreactor increased the EV yield >100 times compared to the conventional cell culture system. Regarding morphology, size distribution and surface markers, only minor differences were observed between the bioreactor‐derived EVs (BR‐EVs) and the EVs obtained from cells grown in conventional cell cultures (C‐EVs). In contrast, metabolomic analysis revealed statistically significant differences in both polar and non‐polar metabolites when the BR‐EVs were compared to the C‐EVs. The results show that the growth conditions markedly affected the EV metabolite profiles and that metabolomics was a sensitive tool to study molecular differences of EVs. We conclude that the cell culture conditions of EV production should be standardized and carefully detailed in publications and care should be taken when EVs from different production platforms are compared with each other for systemic effects.
Effect of laser induced topography with moderate stiffness on human mesenchymal stem cell behavior
Authors: Gao Chenyuan , Tang Lin , Hong Jieyu , Liang Chunyong , Tan Lay Poh , Li Huaqiong 
Published: April 2019

Abstract
Though the effects of scaffold properties such as stiffness and topography on stem cell behavior was well known of, there were multiple theories that explain such behavior and there has been no common consensus thus far. This study deals with using polydimethylsiloxane (PDMS) to mimic a specific microenvironment that favors human mesenchymal stem cells (hMSCs) differentiation into myogenic lineages through the manipulation of specific surface topography and appropriate substrate stiffness. Femtosecond laser was applied to machine microchannels on PDMS substrates in this work. hMSCs were seeded and cultured on lasercut substrates, uncut substrates and controls. Quantitative and qualitative analyses of stem cell behavior were discussed herein with the use of Picogreen Assay for cell proliferation, staining of cytoskeleton for cell orientation, immunostaining of Myosin Heavy Chain for a myogenic biomarker, and quantitative real time polymerase chain reaction for gene expression analysis. It was found that both myogenic differentiation of hMSCs could be achieved by moderate stiffness or microchannels. And differentiation was further boosted by such PDMS substrates with additional microchannels.
Does Season of Reported Dietary Intake Influence Diet Quality? Analysis From the Women’s Health Initiative
Authors: Crane Tracy E , Latif Yasmin Abdel , Wertheim Betsy C , Kohler Lindsay N , Garcia David O , Rhee Jinnie J , Seguin Rebecca , Kazlauskaite Rasa , Shikany James M , Thomson Cynthia A 
Published: April 2019

Abstract
We evaluated the role of seasonality in self-reported diet quality among postmenopausal women participating in the Women’s Health Initiative (WHI). A total of 156,911 women completed a food frequency questionnaire (FFQ) at enrollment (1993–1998). FFQ responses reflected intake over the prior 3-month period, and seasons were defined as spring (March–May), summer (June–August), fall (September–November), and winter (December–February). FFQ data were used to calculate the Alternate Healthy Eating Index (AHEI), a measure of diet quality that has a score range of 2.5–87.5, with higher scores representing better diet quality. In multivariable linear regression models using winter as the reference season, AHEI scores were higher in spring, summer, and fall (all P values < 0.05); although significant, the variance was minimal (mean AHEI score: winter, 41.7 (standard deviation, 11.3); summer, 42.2 (standard deviation, 11.3)). Applying these findings to hypothesis-driven association analysis of diet quality and its relationship with chronic disease risk (cardiovascular disease) showed that controlling for season had no effect on the estimated hazard ratios. Although significant differences in diet quality across seasons can be detected in this population of US postmenopausal women, these differences are not substantial enough to warrant consideration in association studies of diet quality.
The Impact of Human Immunodeficiency Virus Exposure on Respiratory Syncytial Virus–associated Severe Respiratory Illness in South African Infants, 2011–2016
Authors: McMorrow Meredith L , Tempia Stefano , Walaza Sibongile , Treurnicht Florette K , Moyes Jocelyn , Cohen Adam L , Pretorius Marthi , Hellferscee Orienka , Wolter Nicole , von Gottberg Anne , Nguweneza Arthemon , McAnerney Johanna M , Naby Fathima , Mekgoe Omphile , Venter Marietjie , Madhi Shabir A , Cohen Cheryl 
Published: April 2019

Abstract
From 2011 through 2016, we conducted surveillance for severe respiratory illness in infants. Human immunodeficiency virus exposure significantly increased the risk of respiratory syncytial virus (RSV)–associated hospitalization in infants aged <5 months. More than 60% of RSV-associated hospitalizations occurred in the first 4 months of life and may be preventable through maternal vaccination or birth-dose monoclonal antibody.
Aminoglycoside-induced Hearing Loss Among Patients Being Treated for Drug-resistant Tuberculosis in South Africa: A Prediction Model
Authors: Hong Hyejeong , Dowdy David W , Dooley Kelly E , Francis Howard W , Budhathoki Chakra , Han Hae-Ra , Farley Jason E 
Published: April 2019

Abstract

Background
Individuals treated for drug-resistant tuberculosis (DR-TB) with aminoglycosides (AGs) in resource-limited settings often experience permanent hearing loss, yet there is no practical method to identify those at higher risk. We sought to develop a clinical prediction model of AG-induced hearing loss among patients initiating DR-TB treatment in South Africa.

Methods
Using nested, prospective data from a cohort of 379 South African adults being treated for confirmed DR-TB with AG-based regimens we developed the prediction model using multiple logistic regression. Predictors were collected from clinical, audiological, and laboratory evaluations conducted at the initiation of DR-TB treatment. The outcome of AG-induced hearing loss was identified from audiometric and clinical evaluation by a worsened hearing threshold compared with baseline during the 6-month intensive phase.

Results
Sixty-three percent of participants (n = 238) developed any level of hearing loss. The model predicting hearing loss at frequencies from 250 to 8000 Hz included weekly AG dose, human immunodeficiency virus status with CD4 count, age, serum albumin, body mass index, and pre-existing hearing loss. This model demonstrated reasonable discrimination (area under the receiver operating characteristic curve [AUC] = 0.71) and calibration (χ2[8] = 6.10, P = .636). Using a cutoff of 80% predicted probability of hearing loss, the positive predictive value of this model was 83% and negative predictive value was 40%. Model discrimination was similar for ultrahigh-frequency hearing loss (frequencies &gt;9000 Hz; AUC = 0.81) but weaker for clinically determined hearing loss (AUC = 0.60).

Conclusions
This model may identify patients with DR-TB who are at highest risk of developing AG-induced ototoxicity and may help prioritize patients for AG-sparing regimens in clinical settings where access is limited.
Effects of Water, Sanitation, Handwashing, and Nutritional Interventions on Environmental Enteric Dysfunction in Young Children: A Cluster-randomized, Controlled Trial in Rural Bangladesh
Authors: Lin Audrie , Ali Shahjahan , Arnold Benjamin F , Rahman Md Ziaur , Alauddin Mohammad , Grembi Jessica , Mertens Andrew N , Famida Syeda L , Akther Salma , Hossen Md Saheen , Mutsuddi Palash , Shoab Abul K , Hussain Zahir , Rahman Mahbubur , Unicomb Leanne , Ashraf Sania , Naser Abu Mohd , Parvez Sarker M , Ercumen Ayse , Benjamin-Chung Jade , Haque Rashidul , Ahmed Tahmeed , Hossain Md Iqbal , Choudhury Nuzhat , Jannat Kaniz , Alauddin Sarah T , Minchala Sandra G , Cekovic Rabije , Hubbard Alan E , Stewart Christine P , Dewey Kathryn G , Colford John M , Luby Stephen P 
Published: April 2019

Abstract

Background
We hypothesized that drinking water, sanitation, handwashing (WSH), and nutritional interventions would improve environmental enteric dysfunction (EED), a potential contributor to stunting.

Methods
Within a subsample of a cluster-randomized, controlled trial in rural Bangladesh, we enrolled pregnant women in 4 arms: control, WSH, child nutrition counseling plus lipid-based nutrient supplements (N), and nutrition plus WSH (N+WSH). Among the birth cohort, we measured biomarkers of gut inflammation (myeloperoxidase, neopterin), permeability (alpha-1-antitrypsin, lactulose, mannitol), and repair (regenerating gene 1β) at median ages 3, 14, and 28 months. Analysis was intention-to-treat.

Results
We assessed 1512 children. At age 3 months, compared to controls, neopterin was reduced by nutrition (–0.21 log nmol/L; 95% confidence interval [CI], –.37, –.05) and N+WSH (–0.20 log nmol/L; 95% CI, –.34, –.06) interventions; similar reductions were observed at 14 months. At 3 months, all interventions reduced lactulose and mannitol (–0.60 to –0.69 log mmol/L). At 28 months, myeloperoxidase was elevated in the WSH and nutrition arms (0.23–0.27 log ng/mL) and lactulose was higher in the WSH arm (0.30 log mmol/L; 95% CI, .07, .53).

Conclusions
Reductions in permeability and inflammation at ages 3 and 14 months suggest that the interventions promoted healthy intestinal maturation; however, by 28 months, the WSH and nutrition arms showed elevated EED biomarkers. These results underscore the importance of developing a better understanding of EED pathophysiology and targeting interventions early in childhood, when they are likely to have the largest benefit to intestinal health.

Clinical Trials Registration
NCT01590095.
Rationale for a Neisseria gonorrhoeae Susceptible–only Interpretive Breakpoint for Azithromycin
Authors: Kersh Ellen N , Allen Vanessa , Ransom Eric , Schmerer Matthew , Cyr Sancta , Workowski Kim , Weinstock Hillard , Patel Jean , Ferraro Mary Jane 
Published: April 2019

Abstract

Background
Azithromycin (AZI) is recommended with ceftriaxone (CRO) for treatment of uncomplicated gonococcal urethritis and cervicitis in the United States, and an AZI-susceptibility breakpoint is needed. Neither the Food and Drug Administration (FDA) nor the Clinical and Laboratory Standards Institute (CLSI) has set interpretive breakpoints for AZI susceptibility. As a result, AZI antimicrobial susceptibility testing (AST) cannot be interpreted using recognized standards. This has contributed to increasingly unavailable clinical laboratory AST, although gonorrhea is on the rise with &gt;550 000 US gonorrhea cases reported to the Centers for Disease Control and Prevention in 2017, the highest number of cases since 1991.

Methods
This article summarizes the rationale data reviewed by the CLSI in June 2018.

Results
The CLSI decided to set a susceptible-only interpretive breakpoint at the minimum inhibitory concentration of ≤1 µg/mL. This is also the epidemiological cutoff value (ECV) (ie, the end of the wild-type susceptibility distribution). This breakpoint presumes that AZI (1-g single dose) is used in an approved regimen that includes an additional antimicrobial agent (ie, CRO 250 mg, intramuscular single dose).

Conclusions
Having a breakpoint can improve patient care and surveillance and allow future development and FDA regulatory approval of modernized AST to guide treatment. The breakpoint coincides with a European Committee on AST decision to remove previously established, differing AZI breakpoints and use the ECV as guidance for testing. The CLSI breakpoint is now the recognized standard that defines AZI susceptibility for gonococcal infections.