bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next‐generation sequencing
Authors: Nasirshalal Mahzad , Panahi Mohammad , Javanshir Nahid , Salmani Hamzeh 
Published: May 2021

AbstractBackgroundWaardenburg syndrome (WS) is a genetically heterogeneous syndrome with both autosomal recessive and dominant inheritance. WS causes skin and iris pigmentation accumulation and sensorineural hearing loss, in varying degrees. There are four WS types with different characteristics. WS1 and WS2 are the most common and have a dominant inheritance. WS2 is caused by mutations in the microphthalmia‐associated transcription factor (MITF) gene.MethodsAn Iranian couple with hearing loss was recruited in the present study. First, they were screened for GJB2 and GJB6 gene mutations, and then whole‐exome sequencing 100X was performed along with bioinformatics analysis.ResultsA novel pathogenic heterozygous mutation, c.425T>A; p.L142Ter, was detected in the MITF gene's exon 4. Bioinformatics analysis predicted c.425T>A; p.L142Ter as a possible pathogenic variation. It appears that the mutated transcript level declines through nonsense‐mediated decay. It probably created a significantly truncated protein and lost conserved and functional domains like basic helix‐loop‐helix‐zipper proteins. Besides, the variant was utterly co‐segregated with the disease within the family.ConclusionsWe investigated an Iranian family with congenital hearing loss and identified a novel pathogenic variant c.425T>A; p. L142Ter in the MITF gene related to WS2. This variant is a nonsense mutation, probably leading to a premature stop codon. Our data may be beneficial in upgrading gene mutation databases and identifying WS2 causes.
Performance of HIV detection in Zhejiang province in China: The Pareto principle at work
Authors: Zhang Jiafeng , Ding Xiaobei , Zhou Xin , Chen Wanjun , Yao Jiaming , Guo Zhihong , Chen Lin , Xia Yan , Fan Qin 
Published: May 2021

AbstractBackgroundTimely detection of HIV infection is critical for curbing the AIDS epidemic, and building an extensive and effective HIV laboratory network is of great importance. Therefore, improving quality management of the laboratory network and optimizing detection strategies are desirable research issues.MethodsWe assessed the applicability of the Pareto principle to HIV detection performance. We conducted a retrospective review of basic information and numbers of screening tests among an HIV laboratory network (1,452 laboratories) in Zhejiang province in 2014 and statistically analyzed HIV testing data for different population categories.ResultsApproximately, 80% of the cumulative HIV screening tests and positive screening tests originated from 17.3% (251/1,452) and 11.7% (170/1,452) of the laboratories in the whole province, respectively, and similar patterns were observed at the prefectural level. We found that the top five population screening categories (25%, 5/20) had the highest contribution (approximately 80%) to not only the number of screening tests (77.2%) but also the numbers of positive (76.4%) and confirmed positive tests (81.5%).ConclusionsThe Pareto principle provides a method for identifying noteworthy laboratories to deliver prior quality supervision and developing highly efficient screening strategies that best suit local needs.
Application of Physiologically Based Pharmacokinetic‐Pharmacodynamic Modeling in Preterm Neonates to Guide Gentamicin Dosing Decisions and Predict Antibacterial Effect
Authors: Neeli Harshith , Hanna Nazeeh , Abduljalil Khaled , Cusumano Jaclyn , Taft David R. 
Published: May 2021

AbstractClinical studies in preterm neonates are rarely performed due to ethical concerns and difficulties associated with trials and recruitment. Consequently, dose selection in this population is primarily empirical. Scaling neonatal doses from adult doses does not account for developmental changes and may not accurately predict drug kinetics. This is especially important for gentamicin, a narrow therapeutic index aminoglycoside antibiotic. While gentamicin's bactericidal effect is associated with its peak plasma concentration, keeping trough concentrations below 1 µg/mL prevents toxicity and also helps to counteract adaptive resistance in bacteria such as Escherichia coli. In this study, physiologically based pharmacokinetic‐pharmacodynamic (PBPK‐PD) modeling was used to support and/or guide dosing decisions and to predict the antibacterial effect in preterm neonates. A gentamicin PBPK model was successfully verified in healthy adults and preterm neonates across all gestational ages. Clinical data from a neonatal intensive care unit at NYU Langone Hospital–Long Island was used to identify dosing regimens associated with increased incidence of elevated gentamicin trough concentrations in different preterm patient cohorts. Model predictions demonstrated that a higher dose with an extended‐dosing interval (every 36 hours) in neonates with a postmenstrual age of 30 to 34 weeks and ≥35 weeks, with postnatal age 8 to 28 days and 0 to 7 days, respectively, were more likely to have a trough <1 µg/mL when compared with once‐daily (every 24 hours) dosing. PBPK‐PD modeling suggested that a higher dose administered every 36 hours may provide effective antibacterial therapy.
Using learning management software data to compare students' actual and self‐reported viewing of video lectures
Authors: Scott JoAnna M. , Bohaty Brenda S. , Gadbury‐Amyot Cynthia C. 
Published: May 2021

AbstractPurposeStudent engagement is typically measured by class attendance and questionnaires. Learning management systems (LMS) provide additional sources of objective data that can evaluate student performance. This study compared dental students’ self‐report of course video viewing with LMS data.MethodsDental students in a 2018 flipped pediatric dentistry course were given a questionnaire after course completion that captured self‐reported course video viewing. Student data and time spent on videos were extracted from the LMS and matched to the questionnaire. McNemar's test evaluated differences between self‐reported and matching LMS data.ResultsOf the 109 enrolled students, 99 (91%) completed the questionnaire. Most students self‐reported that they watched more than half of the videos (71%), re‐watched at least once (89%), and watched at times other than 8 a.m.–5 p.m. (80%). Of the 104 students with data from the LMS, 40% of students watched more than half of the videos, 49% re‐watched at least one video, and 60% watched between 8 a.m.–5 p.m. LMS data showed 14 (13%) students did not watch any videos. Significant differences were found between self‐reported video viewing and matched LMS video data in (1) percentage of videos watched, (2) number of times videos were re‐watched, and (3) most frequent time for watching the videos (p < 0.001 for all).ConclusionTechnology is a tool that helps instructors more accurately track students’ study habits compared to observation or self‐report. When evaluating time spent watching videos via an LMS, students tend to overestimate the amount of viewing time.
Sleep disorders during pregnancy and postpartum depression: A systematic review and meta‐analysis
Authors: Maghami Mahboobeh , Shariatpanahi Seyyed Payam , Habibi Danial , Heidari‐Beni Motahar , Badihian Negin , Hosseini Mohsen , Kelishadi Roya 
Published: May 2021

AbstractBackgroundPostpartum depression (PPD) is one of the most important mental disorders in recent years. However, the effects of prenatal sleep disorders on the development of PPD among pregnant women have not been elucidated. This review aims to provide a summary of the literature evaluating the relation between sleep disorders during pregnancy and PPD.MethodA systematic literature search was conducted in PubMed, Web of Science, Scopus, Google Scholar, and Embase up to September 2020. All observational studies (cross‐sectional, case–control, and cohort) and studies that assessed the association between sleep disorders during pregnancy and PPD were included. Total sample of 36,873 women from 13 studies was entered to meta‐analysis. An aggregate effect size estimate (odds ratio) was generated using the comprehensive meta‐analysis software. A random effects model was set a priori. Heterogeneity and publication bias were examined using the standard meta‐analytic approaches.ResultWe found maternal sleep disorder increased odds of PPD (point estimate, 3.300; 95% confidence interval [CI], 2.136–5.098;p < .001;n = 13). However, there was significant heterogeneity (Q, 131.250;df, 12;p < .001;I2, 90.857%). The estimated effect size was significant for all categorical studies. According to meta‐regression, no moderating factor (age and publication year) significantly mediated the estimated effect size.ConclusionWe found a significant relationship between sleep disturbances during pregnancy and PPD. Women with sleep disorders are at an increased risk of developing PPD, which warrants screening pregnant mothers for sleep disturbances. Also, we found that the increasing age in pregnancy was associated with increased risk of PPD.
Oral health‐related quality of life is associated with physical frailty: A cross‐sectional study of Japanese community‐dwelling older adults
Authors: Motoishi Yuya , Yamanashi Hirotomo , Kitamura Masayasu , Hayashida Hideaki , Kawasaki Koji , Nobusue Kenichi , Nonaka Fumiaki , Honda Yukiko , Shimizu Yuji , Kawashiri Shin‐ya , Tamai Mami , Nagata Yasuhiro , Saito Toshiyuki , Maeda Takahiro 
Published: May 2021

AbstractBackgroundPhysical frailty is related to adverse outcomes, and poor oral health has been linked to malnourishment. Subjective measures of oral health‐related quality of life (OHRQoL) have been used as indicators of the oral health problems of older adults, and they have been associated with malnourishment. This study aimed to assess OHRQoL's association with physical frailty.MethodsCross‐sectional study was conducted using data from the Nagasaki Islands Study that enrolled participants aged ≥60 years at Japanese national medical check‐ups from 2014 to 2019. Physical frailty phenotype criteria were determined using the modified Fried frailty phenotype model. OHRQoL was assessed using the Geriatric Oral Health Assessment Index (GOHAI). Dentists conducted clinical dental examinations. Simple correlation and linear regression analyses were performed to investigate the associations of number of physical frailty phenotype criteria with GOHAI and other oral health indicators.ResultsAmong 1341 participants with a mean age of 72 years, GOHAI score was significantly associated with number of physical frailty phenotype criteria (B = −0.01, 95% confidence interval: −0.02 to −0.01, p < 0.001). The association remained significant after adjustment for age, sex, body mass index, history of hypertension, history of diabetes mellitus, smoking status, Kessler‐6 score, and number of remaining teeth.ConclusionsOral health‐related quality of life was associated with physical frailty in Japanese community‐dwelling older adults.
Is there a role for doravirine in African HIV treatment programmes? A large observational resistance study in South Africa
Authors: Steegen Kim , Moorhouse Michelle , Wensing Annemarie MJ , Venter Willem DF , Hans Lucia 
Published: May 2021

AbstractIntroductionDolutegravir has replaced efavirenz in most low‐ and middle‐income countries, due to better tolerability and formidable resistance profile, but dolutegravir side effects suggest alternatives are needed. We evaluated doravirine resistance in South Africa as a first step to assess whether doravirine may replace dolutegravir.MethodsA retrospective dataset was analysed for predicted doravirine susceptibility, including sequences obtained from three patient groups. First, data from 277 patients initiating antiretroviral treatment (ART) were collected between February 2013 and October 2014 as part of a national survey. Second, data from 788 patients experiencing NNRTI‐based ART failure were obtained between February 2013 and October 2014 as part of a national survey. Third, data derived from 584 patients who had genotypic drug resistance testing requested after NNRT‐based failure as part of individual patient management between January 2016 and December 2019. Pol sequences were generated using validated population‐based in‐house genotyping and submitted to Stanford HIVdb v8.9.Results and discussionLess than 5% of patients initiating ART presented with genotypic doravirine resistance, whereas most patients experiencing NNRTI‐based ART failure presented with predicted intermediate (41.0%) or high‐level resistance (43.8%) to doravirine. High‐level resistance to doravirine was commonly predicted by the presence of at least three DRMs (79.7%). The predicted resistance profile to doravirine in ART‐naïve patients is promising, but less so in those experiencing failure to first‐generation NNRTIs. Accumulation of NNRTI DRMs seems to be an important factor in the poor resistance prediction for doravirine.ConclusionsAlthough doravirine is approved as initial therapy in patients who are ART‐naïve, it is currently recommended to obtain a genotype prior to the initiation of ART. Clinical studies are needed to ascertain whether predicted resistance profiles in ART naïve and NNRTI‐treated patients translate into poor clinical outcomes, especially in settings where genotypic resistance testing is not available.
A vital technology: Review of the literature on mobile phone use among pastoralists
Authors: Parlasca Martin C. 
Published: May 2021

AbstractMobile phones fit well into the lives of pastoralists in low‐income countries. The technology is firmly integrated into most pastoralist communities, affecting and transforming several core activities. Most studies concerned with this relationship, however, have narrow regional and thematic foci. The complementarity or discrepancy between relevant research is unknown, and a critical assessment of the current state of research is lacking. This study identifies, summarizes, and analyzes relevant studies, showing that the literature attests generally positive influences of mobile phones although some negative effects also occur. Effects on pastoralists' income, environmental externalities, and gender roles are not yet sufficiently understood.
SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion
Authors: Aldosary Mazhor , Baselm Shahad , Abdulrahim Maha , Almass Rawan , Alsagob Maysoon , AlMasseri Zainab , Huma Rozeena , AlQuait Laila , Al‐Shidi Tarfa , Al‐Obeid Eman , AlBakheet Albandary , Alahideb Basma , Alahaidib Lujane , Qari Alya , Taylor Robert W. , Colak Dilek , AlSayed Moeenaldeen D. , Kaya Namik 
Published: May 2021

AbstractSLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi‐allelic homozygous missense variants in the SLC25A42 as the cause of mitochondrial encephalomyopathy, of which 14 of them were of Saudi origin and share the same founder variant, c.871A > G:p.Asn291Asp. The other subject was of German origin with a variant at canonical splice site, c.380 + 2 T > A. Here, we describe the clinical manifestations and the disease course in additional six Saudi patients from four unrelated consanguineous families. While five patients have the Saudi founder p.Asn291Asp variant, one subject has a novel deletion. Functional analyses on fibroblasts obtained from this patient revealed that the deletion causes significant decrease in mitochondrial oxygen consumption and ATP production compared to healthy individuals. Moreover, extracellular acidification rate revealed significantly reduced glycolysis, glycolytic capacity, and glycolytic reserve as compared to control individuals. There were no changes in the mitochondrial DNA (mtDNA) content of patient fibroblasts. Immunoblotting experiments revealed significantly diminished protein expression due to the deletion. In conclusion, we report additional patients with SLC25A42‐associated mitochondrial encephalomyopathy. Our study expands the molecular spectrum of this condition and provides further evidence of mitochondrial dysfunction as a central cause of pathology. We therefore propose that this disorder should be included in the differential diagnosis of any patient with an unexplained motor and speech delay, recurrent encephalopathy with metabolic acidosis, intermittent or persistent dystonia, lactic acidosis, basal ganglia lesions and, especially, of Arab ethnicity. Finally, deep brain stimulation should be considered in the management of patients with life altering dystonia.
Use of continuous cranial shape variation in the identification of divergent crocodile species of the genus Mecistops
Authors: Carr Amanda N. , Nestler Jennifer H. , Vliet Kent A. , Brochu Christopher A. , Murray Christopher M. , Shirley Matthew H. 
Published: May 2021

AbstractThe discovery of cryptic biodiversity has blossomed under the advancements of genetic techniques, but species identification via morphology remains crucial to effective conservation efforts. In this study, we tested the use of continuous cranial shape variation in distinguishing the two living species of Mecistops: the West African slender‐snouted crocodile (M. cataphractus) and the Central African slender‐snouted crocodile (M. leptorhynchus). Using a combination of geometric morphometric characters and ratios of linear measurements, we identified statistically significant variation in cranial bone and overall skull shape of mature individuals that corroborates existing molecular and discrete morphological evidence for two distinct, extant species within Mecistops. Specifically, variation in the shape of the nasal appears particularly diagnostic, while ratios involving metrics of snout length to snout width at the premaxillary notch offer distinguishing features easily measured in the field. Because of the complementary results and applications of the morphometric and cranial ratio analyses, we argue that both methodologies remain relevant to species identification. Moreover, we recommend continued cooperation between geneticists and morphologists in diagnosing species of conservation concern.
Plants control soil gas exchanges possibly via mucilage
Authors: Haupenthal Adrian , Brax Mathilde , Bentz Jonas , Jungkunst Hermann F. , Schützenmeister Klaus , Kroener Eva 
Published: May 2021

AbstractBackground: Gaseous matter exchanges in soil are determined by the connectivity of the pore system which is easily clogged by fresh root exudates. However, it remains unclear how a hydrogel (e.g., mucilage) affects soil pore tortuosity and gas diffusion properties when drying.Aims: The aim of this viewpoint study is to extend the understanding of gas exchange processes in the rhizosphere by (a) relating it to the patterns formed by drying mucilage within pore space and (b) to give a concept of the effect of drying mucilage on soil gas diffusivity using the combination of experimental evidence and simulations.Methods: To describe the effect of mucilage on soil gas exchanges, we performed gas diffusion experiments on dry soil–mucilage samples and took images of glass beads mixed with mucilage to visualize the formation of mucilage after drying, using Environmental Scanning Electron Microscopy. Finally, we set up simulations to characterize the geometric distribution of mucilage within soil during the drying process.Results: Experiments of gas diffusion show that mucilage decreases gas diffusion coefficient in dry soil without significantly altering bulk density and porosity. Electron microscopy indicates that during drying mucilage forms filaments and interconnected structures throughout the pore space reducing gas phase connectivity. The evolution of these geometric structures is explained via pore scale modelling based on identifying the elastic strength of rhizodeposition during soil drying.Conclusion: Our results suggest that releasing mucilage may be a plant adaption strategy to actively alter gas diffusion in soil.
Tourist inspiration and its consequences: The moderating role of neuroticism
Authors: Khoi Nguyen Huu , Le Angelina Nhat‐Hanh , Tran Mai Dong 
Published: May 2021

AbstractDrawing on the cognitive appraisal theory, this study contributes by investigating how and why tourist inspiration elicits emotional responses of delight and transcendence, which in turn affect the intention to revisit a particular destination under the moderating effect of neuroticism. This study uses PLS‐SEM to test the proposed hypotheses on a dataset of 238 international tourists traveling to Vietnam. The results indicate that the states of inspired‐by and inspired‐to have positive effects on delight and transcendence, which in turn exert a positive influence on the intention to revisit. Neuroticism has negative moderating effects on the relationship between tourist inspiration and emotional responses.
Hearing loss in inner ear and systemic autoimmune disease: A systematic review of post‐cochlear implantation outcomes
Authors: Lee Jonathan , Biggs Kirsty , Muzaffar Jameel , Bance Manohar , Monksfield Peter 
Published: May 2021

AbstractObjectivesTo assess outcomes following cochlear implantation (CI) in patients with hearing loss secondary to primary or secondary autoimmune inner ear disease (AIED).MethodsA systematic review and narrative synthesis was completed according to PRISMA guidelines. Databases searched included MEDLINE, PubMed, EMBASE, Web of Science, Cochrane Collection, and ClinicalTrials.gov. No limits were placed on year of publication or language.ResultsA total of 551 studies were identified, of which 29 were included after removal of duplicates, and screening the title, abstract, and full text. All except one study were OCEBM grade IV. 114 of 115 patients displayed improvement in hearing following cochlear implantation. With implant use, roughly a third of these patients had hearing that improved over time, a third improved and plateaued, and a third remained stable. There was no additional risk of perioperative complications found in AIED patients compared what is generally accepted in general cochlear implantation, although two episodes of device failure after 6 months were noted, and four patients with secondary AIED displayed poor initial audiological outcomes.ConclusionCI in both primary and secondary AIED provides marked improvement in hearing. Early CI may be a valid management option, provide long‐lasting hearing in patients and reduce the side effects of long‐term systemic immunosuppressants. However, patients should be counseled residual hearing may be lost if there is cochlear ossification or fibrosis which may make implant insertion more traumatic.Level of EvidenceNA.
Self‐Assembly or Coassembly of Multiresponsive Histidine‐Containing Elastin‐Like Polypeptide Block Copolymers
Authors: Abdelghani Mona , Shao Jingxin , Le Duc H. T. , Wu Hanglong , van Hest Jan C. M. 
Published: May 2021

AbstractIn this study a histidine containing elastin‐like polypeptide (ELP) diblock copolymer is described with multiresponsive assembly behavior. Self‐assembly into micelles is examined by two methods. First, the self‐assembly is triggered by the addition of divalent metal ions, with Zn2+ being the most suitable one. Increasing the Zn2+ concentration stabilizes the nanoparticles over a large temperature window (4–45 °C). This diblock exhibits furthermore pH‐responsiveness, and particles disassemble under mildly acidic conditions. Second, the coassembly of this ELP with a diblock ELP is examined, which is not responsive to pH and metal ions. Coassembly is triggered by heating the ELPs quickly above the transition temperature of the less hydrophobic block, which results in stable nanoparticles without the need to add metal ions. This novel ELP system offers a versatile modular nanocarrier platform that can respond to different stimuli and can be tuned effectively.