bluuebunny/crossref_metadata_2025_split huggingface dataset:
Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss
Authors: Hu Sijing , Zhang Hao , Liu Yunqiang , Liu Mohan , Li Jingjing , Liao Shunyao 
Published: August 2021

Background: We examined the genetic variants of a Chinese family with a 22-month-old infant with sporadic non-syndromic sensorineural hearing loss (NSHL). Methods: The whole-exome sequence data in the family, especially the de novo variants presented in the patient, were analyzed and the effect of the disease-causing genetic variants on the protein expression level and cellular localization were examined by cell-based functional assay. Results: The infant had no known NSHL-causing variants, except two compound heterozygous variants in connexin26 gene GJB2; one was the c.79G>A, c.341A>G haplotype from the asymptomatic mother who was benign, and the other was a de novo pathogenic c.262G>C (p.A88P). In vitro, GJB2 with c.262G>C was weakly expressed and displayed a punctate distribution in the cytoplasm and cytomembrane, while wild type GJB2 was robustly expressed in the cytomembrane. We deduced that the de novo pathogenic GJB2 c.262G>C exacerbated loss-of-function in the context of leaky variants c.79G>A, c.341A>G in the patient. Interestingly, further analysis of exome sequences revealed that the occurrence of de novo pathogenic variants in the infant was frequent. Among the total~47,000 variants, 143 were de novo in the patient, whereas among all 74 variants predicted to be pathogenic/likely pathogenic, 21 were heterozygous and two were homozygous de novo. The occurrence rate of de novo deleterious variants was much higher (31.1%, 23/74) than that in total (0.34%, 143/47,000). It is notable that most genes with de novo deleterious variants were environment-sensitive, such as GJB2, MNK1, MNK2, MUC4, RAD21 and DNA copy number variations. Conclusions: The full picture of genetic variants in the exome might help us to interpret the NSHL-causing variants. More research is needed into the causes of de novo deleterious variants and gene-environment interactions in congenital NSHL.
Pre-pregnancy and pregnancy cohorts: a scoping review protocol
Authors: Maxwell Lauren , Gilyan Regina , Chavan Sayali Arvind , Al-Zumair Marwah , Akter Shaila , Jaenisch Thomas 
Published: August 2021

Introduction: Recent research in life course epidemiology has demonstrated the importance of evaluating how pre-pregnancy and pregnancy exposures affect later life developmental outcomes. While the fields of nutrition, non-communicable disease, and social epidemiology have examined a diversity of birth- and longer-term outcomes related to different exposures during pregnancy, little information exists on other types of exposures, including infectious, medication, and vaccine-related exposures. In this review, we describe completed or ongoing pregnancy and pre-pregnancy cohorts to assess gaps in the exposures and outcomes measured in these initiatives to inform future research investments. Methods and analysis: We will apply the Arskey and O’Malley scoping review methodology and use the National Institutes of Health quality assessment tool for cohort studies. The systematic search strategy was developed and tailored for Ovid Medline and Embase, LILACs, and Web of Science with the assistance of an information scientist. We selected a scoping review rather than a systematic review methodology because this review is meant to provide a comprehensive overview of pregnancy and pre-pregnancy cohorts, rather than to focus on the findings from related research. The title-abstract and full text screening and data charting will be conducted independently by two reviewers. Discrepancies will be resolved by a third reviewer and results will be summarised in narrative form. Ethics and dissemination: This scoping review summarizes findings from existing publications in peer reviewed journals and does not require ethics review. Findings will be disseminated through an open access publication.
Association of smoking status with hospitalisation for COVID-19 compared with other respiratory viruses a year previous: a case-control study at a single UK National Health Service trust
Authors: Simons David , Perski Olga , Shahab Lion , Brown Jamie , Bailey Robin 
Published: August 2021

Background: It is unclear whether smoking increases the risk of COVID-19 hospitalisation. We first examined the association of smoking status with hospitalisation for COVID-19 compared with hospitalisation for other respiratory viral infections a year previous. Second, we examined the concordance between smoking status recorded on the electronic health record (EHR) and the contemporaneous medical notes. Methods: This case-control study enrolled adult patients (446 cases and 211 controls) at a single National Health Service trust in London, UK. The outcome variable was type of hospitalisation (COVID-19 vs. another respiratory virus a year previous). The exposure variable was smoking status (never/former/current smoker). Logistic regression analyses adjusted for age, sex, socioeconomic position and comorbidities were performed. The study protocol and analyses were pre-registered in April 2020 on the Open Science Framework. Results: Current smokers had lower odds of being hospitalised with COVID-19 compared with other respiratory viruses a year previous (ORadj=0.55, 95% CI=0.31-0.96, p=.04). There was no significant association among former smokers (ORadj=1.08, 95% CI=0.72-1.65, p=.70). Smoking status recorded on the EHR (compared with the contemporaneous medical notes) was incorrectly recorded for 168 (79.6%) controls (χ2(3)=256.5, p=<0.001) and 60 cases (13.5%) (χ2(3)=34.2, p=<0.001). Conclusions: In a single UK hospital trust, current smokers had reduced odds of being hospitalised with COVID-19 compared with other respiratory viruses a year previous, although it is unclear whether this association is causal. Targeted post-discharge recording of smoking status may account for the greater EHR-medical notes concordance observed in cases compared with controls.
Country perspectives on improving technical assistance in the health sector
Authors: Kanagat Natasha , Chauffour Jeanne , Ilunga Jean-Fidèle , Yuma Ramazani Sylvain , Ovuoraye Ajiwohwodoma John J.P. , Ibrahim Anas-Kolo Salma , Maryjane Oleka , Onuekwusi Nkeiru , Ezombe Toto , Dominion James , Sunday Joseph , Kasongo Joseph , Ngambwa Gavial , Asala Christy , Nsibu Célestin , Williams Abimbola , Wendland Melanie , Klimiuk Emilia , LaFond Anne , Orobaton Nosa , Kasungami Dyness 
Published: August 2021

Background: This paper presents learnings from the Re-Imagining Technical Assistance for Maternal, Neonatal, and Child Health and Health Systems Strengthening (RTA) project implemented in the Democratic Republic of the Congo and Nigeria from April 2018 to September 2020 by JSI Research & Training Institute, Inc. and Sonder Collective and managed by the Child Health Task Force. The first of RTA’s two phases involved multiple design research activities, such as human-centered design and co-creation, while the second phase focused on secondary analysis of interviews and reports from the design research. This paper explores the limitations of current technical assistance (TA) approaches and maps opportunities to improve how TA is planned and delivered in the health sector. Methods: We analyzed project reports and 68 interviews with TA funders, providers, and consumers to explore in greater detail their perspectives on TA, its characteristics and drawbacks as well as opportunities for improvement. We used qualitative content analysis techniques for this study. Results: The issues surrounding TA included the focus on donor-driven agendas over country priorities, poor accountability between and within TA actors, inadequate skill transfer from TA providers to government TA consumers, an emphasis on quick fixes and short-term thinking, and inadequate governance mechanisms to oversee and manage TA. Consequently, health systems do not achieve the highest levels of resilience and autonomy. Conclusions: Participants in project workshops and interviews called for a transformation in TA centered on a redistribution of power enabling governments to establish their health agendas in keeping with the issues that are of greatest importance to them, followed by collaboration with donors to develop TA interventions. Recommended improvements to the TA landscape in this paper include nine critical shifts, four domains of change, and 20 new guiding principles.
Impact of Different Pairings of Respondents on Scores on the Supports Intensity Scale—Adult Version (SIS-A)
Authors: Hagiwara Mayumi , Rifenbark Graham G. , Shogren Karrie A. , Thompson James R. 
Published: August 2021

Abstract
This secondary analysis examined the impact of respondent-level factors on scores on the Supports Intensity Scale–Adult Version (SIS-A) to determine if there were patterns of differences in SIS-A scores based on the number of respondents and the pairings of respondents that were included in SIS-A interviews. Results indicated that having fewer respondents led to a greater variability in SIS-A scores whereas having more respondents led to higher mean, overall support need scores. When respondents included an adult with intellectual disability (ID) the mean score was significantly lower. However, there were complex influences of pairing an adult with ID with either a professional or family member on SIS-A scores. Implications for administering and using the SIS-A are discussed.
Direct Measures of Medication Effects: Exploring the Scientific Utility of Behavior-Analytic Assessments
Authors: Lloyd Blair P. , Weaver Emily S. , Torelli Jessica N. , Pollack Marney S. , Fareed Sunya A. , Maxwell-Horn Angela C. 
Published: August 2021

Abstract
The purpose of the current study was to explore the scientific utility of two behavior analytic assessments (i.e., progressive ratio and demand assessments) for psychotropic medication evaluation. For a sample of 23 children with disabilities who were prescribed medication, we conducted a series of generalizability and optimization studies to identify sources of score variance and conditions in which stable estimates of behavior can be obtained. To inform construct validity, we calculated correlations between scores from each assessment and those from a standardized behavior rating scale (Aberrant Behavior Checklist-Second Edition; ABC-2). Results offer initial support for the scientific utility of progressive ratio scores. More research is needed to evaluate sensitivity to change and construct validity of scores from these and other behavior analytic assessments.
Behavioral Inflexibility Across Two Neurogenetic Conditions: Down Syndrome and Fragile X Syndrome
Authors: Harrop Clare , Dallman Aaron R. , Lecavalier Luc , Bodfish James W. , Boyd Brian A. 
Published: August 2021

Abstract
Behavioral inflexibility (BI) has been highlighted to occur across genetic and neurodevelopmental disorders. This study characterized BI in two common neurogenetic conditions: Fragile X syndrome (FXS) and Down syndrome (DS). Caregivers of children with FXS (N = 56; with ASD = 28; FXS only = 28) and DS (N = 146) completed the Behavioral Inflexibility Scale (BIS) via an online survey. Total BIS scores were higher in FXS+ASD than both FXS only and DS (p &lt;.001). Most endorsed items were similar across the three groups, but scores were higher in the FXS+ASD group. In all groups, BI associated with other clinical variables (receptive behaviors, anxiety, social communication). The current data suggest that BI is variable across neurogenetic conditions and higher in individuals with comorbid ASD.
Highly efficient achromatic subdiffraction focusing lens in the near field with large numerical aperture
Authors: Chen Jin , Chu Hongchen , Lai Yun , Chen Huanyang , Song Weili , Chen Mingji , Fang Daining 
Published: August 2021

The achromatic subdiffraction lens with large numerical aperture (NA) is of significant importance in optical imaging, photolithography, spectroscopy, and nanophotonics. However, most of the previous research on subdiffraction lenses has been restricted by limited bandwidth and efficiency as well as severe chromatic aberrations. In this paper, a semicircular gradient index lens (sGRIN) with a modified refractive index profile originated from a Maxwell fish-eye lens is put forward to achieve highly efficient (above 81%) achromatic (4–20 GHz) subdiffraction focusing at the focusing line (around

0.28
λ

) with large NA of 1.3 and broadband diffraction-limited far-field radiation (4–16 GHz) theoretically, which overcomes the drawbacks of previous works. The presented lens is designed by gradient dielectric metamaterials. Evanescent waves ignited at the lens/air interface and transformation of electromagnetic (EM) waves with high spatial frequency in sGRIN to EM waves with low spatial frequency in air are responsible for subdiffraction focusing and diffraction-limited far-field radiation, respectively. Experimental results demonstrate the excellent performance of achromatic subdiffraction focusing and diffraction-limited far-field radiation. The presented lens has great potential to be applied in subdiffraction imaging systems.
Ultra-compact, high-numerical-aperture achromatic multilevel diffractive lens via metaheuristic approach
Authors: Yildırım Bumın K. , Kurt Hamza , Turduev Mirbek 
Published: August 2021

Recently, multilevel diffractive lenses (MDLs) have attracted considerable attention, mainly due to their superior wave-focusing performance; however, efforts to reduce chromatic aberration are still ongoing. Here, we present a numerical design and experimentally demonstrate a high-numerical aperture (

∼
0.99

), diffraction-limited achromatic multilevel diffractive lens (AMDL), operating in the microwave range of 10–14 GHz. A multi-objective differential evolution (MO-DE) algorithm was incorporated with the three-dimensional (3D) finite-difference time-domain method to optimize the heights and widths of each concentric ring (zone) of the AMDL structure. To the best of our knowledge for the first time, in this study, the desired focal distance was also treated as an optimization parameter in addition to the structural parameters of the zones. Thus, MO-DE diminishes the necessity of predetermined focal distance and center wavelength by also providing an alternative method for phase profile tailoring. The proposed AMDL can be considered an ultra-compact and flat lens since it has the radius of

3.7

λ

c

and a thickness of

∼

λ

c

, where

λ

c

is the center wavelength of 24.98 mm (i.e., 12 GHz). The numerically calculated full width at half maximum values are

<
0.554
λ

and focusing efficiency values are varying between 28% and 45.5%. To experimentally demonstrate the functionality of the optimized lens, the AMDL composed of polylactic acid material polymer is fabricated via 3D-printing technology. The numerical and experimental results are compared, discussed in detail, and observed to be in good agreement. Moreover, the verified AMDL in the microwave regime is scaled down to the visible wavelengths to observe achromatic and diffraction-limited focusing behavior between 380 and 620 nm wavelengths.
Highly stable full-color display device with VLC application potential using semipolar μLEDs and all-inorganic encapsulated perovskite nanocrystal
Authors: Wu Tingzhu , Lin Yue , Huang Yu-Ming , Liu Meng , Singh Konthoujam James , Lin Wansheng , Lu Tingwei , Zheng Xi , Zhou Jianyang , Kuo Hao-Chung , Chen Zhong 
Published: August 2021

A promising approach for the development of effective full-color displays is to combine blue microLEDs (μLEDs) with color conversion layers. Perovskite nanocrystals (PNCs) are notable for their tolerance to defects and provide excellent photoluminescence quantum yields and high color purity compared to metal chalcogenide quantum dots. The stability of PNCs in ambient conditions and under exposure to blue light can be improved using a

SiO

2

coating. This study proposes a device that could be used for both display and visible light communication (VLC) applications. The semipolar blue μLED array fabricated in this study shows a negligible wavelength shift, indicating a significant reduction in the quantum confined Stark effect. Owing to its shorter carrier lifetime, the semipolar μLED array exhibits an impressive peak 3 dB bandwidth of 655 MHz and a data transmission rate of 1.2 Gb/s corresponding to an injection current of 200 mA. The PNC–μLED device assembled from a semipolar μLED array with PNCs demonstrates high color stability and wide color-gamut features, achieving 127.23% and 95.00% of the National Television Standards Committee standard and Rec. 2020 on the CIE 1931 color diagram, respectively. These results suggest that the proposed PNC–μLED device is suitable for both display-related and VLC applications.
Dynamically reconfigurable subwavelength optical device for hydrogen sulfide gas sensing
Authors: Wen Zhengji , Lu Jialiang , Yu Weiwei , Wu Hao , Xie Hao , Pan Xiaohang , Xu Qianqian , Zhou Ziji , Tan Chong , Zhou Dongjie , Liu Chang , Sun Yan , Dai Ning , Hao Jiaming 
Published: August 2021

The importance of tunable subwavelength optical devices in modern electromagnetic and photonic systems is indisputable. Herein, a lithography-free, wide-angle, and reconfigurable subwavelength optical device with high tunability operating in the near-infrared regions is proposed and experimentally demonstrated, based on a reversible nanochemistry approach. The reconfigurable subwavelength optical device basically comprises an ultrathin copper oxide (CuO) thin film on an optical thick gold substrate by utilizing the reversible chemical conversion of CuO to sulfides upon exposure to hydrogen sulfide gas. Proof-of-concept experimental results show that the maximal modulation depth of reflectance can be as high as 90% at the wavelength of 1.79 μm with the initial thickness of CuO taken as 150 nm. Partially reflected wave calculations combined with the transfer matrix method are employed to analytically investigate the optical properties of the structure, which show good agreement with experimental results. We believe that the proposed versatile approaches can be implemented for dynamic control management, allowing applications in tunable photonics, active displays, optical encryption, and gas sensing.
Incidence of and predisposing factors for pseudoaneurysm formation in a high-volume cardiovascular center
Authors: Sarkadi Hunor , Csőre Judit , Veres Dániel Sándor , Szegedi Nándor , Molnár Levente , Gellér László , Bérczi Viktor , Dósa Edit 
Published: August 2021

Purpose
To evaluate factors associated with pseudoaneurysm (PSA) development.

Methods
Between January 2016 and May 2020, 30,196 patients had invasive vascular radiological or cardiac endovascular procedures that required arterial puncture. All patients with PSA were identified. A matched (age, gender, and type of the procedure) control group of 134 patients was created to reveal predictors of PSA formation.

Results
Single PSAs were found in 134 patients. Fifty-three PSAs developed after radiological procedures (53/6555 [0.8%]), 31 after coronary artery procedures (31/18038 [0.2%]), 25 after non-coronary artery cardiac procedures (25/5603 [0.4%]), and 25 due to procedures in which the arterial puncture was unintended. Thirty-four PSAs (25.4%) were localized to the upper extremity arteries (vascular closure device [VCD], N = 0), while 100 (74.6%) arose from the lower extremity arteries (VCD, N = 37). The PSA prevalence was 0.05% (10/20478) in the radial artery, 0.1% (2/1818) in the ulnar artery, 1.2% (22/1897) in the brachial artery, and 0.4% (99/22202) in the femoral artery. Treatments for upper and lower limb PSAs were as follows: bandage replacement (32.4% and 14%, respectively), ultrasound-guided compression (11.8% and 1%, respectively), ultrasound-guided thrombin injection (38.2% and 78%, respectively), and open surgery (17.6% and 12%, respectively). Reintervention was necessary in 19 patients (14.2%). The prevalence of PSA for the punctured artery with and without VCD use was 37/3555 (1%) and 97/27204 (0.4%), respectively (OR, 2.94; 95% CI, 1.95–4.34; P<0.001). The effect of red blood cell (RBC) count (P<0.001), hematocrit value (P<0.001), hemoglobin value (P<0.001), international normalized ratio (INR; P<0.001), RBC count—INR interaction (P = 0.003), and RBC count—VCD use interaction (P = 0.036) on PSA formation was significant.

Conclusion
Patients in whom the puncture site is closed with a VCD require increased observation. Preprocedural laboratory findings are useful for the identification of patients at high risk of PSA formation.
A unique double tango: Construct validation and reliability analysis of risk perception, attitude and practice (RPAP) questionnaire on dengue infection
Authors: Zamzuri Mohd ‘Ammar Ihsan Ahmad , Jamhari Mohd Nazrin , Faisal Ghazi Hasanain , Muhamad Hasani Muhamad Hazizi , Mohd Ali Noor Khalili , Abd. Rashid Mohammad Faid , Hod Rozita , Dapari Rahmat , Hassan Mohd Rohaizat 
Published: August 2021

Introduction/backgroundDengue fever remains a public health threat despite being preventable. A solution to the constant problem of dengue infection will require active intervention and a paradigm shift. Assessing perceived risk and correlating it with the attitude and practice of the community will help in designing appropriate measures. However, possible instruments for these assessments come with limitations.ObjectiveThe aim is to develop and validate a new scoring-based questionnaire, using dual statistical approaches to measure risk perception, attitude, and practices (RPAP) related to dengue in the community.MethodsThe RPAP questionnaire was developed bilingually using the International Society for Pharmacoeconomics and Outcome Research (ISPOR) guidelines. Content analysis was reviewed scrupulously by four expert panels. The initial 35-item scale was tested among 253 Malaysian respondents recruited non-probabilistically via multiple online platforms. Two statistical methods were employed to measure the construct validity: Exploratory Factor Analysis (EFA) as part of the Classical Test Theory (CTT) measurement, while Rasch Measurement Analysis (Rasch) was performed for the Item Response Theory (IRT) measurement. All results were cross-validated with their counterpart to ensure stability. Confirmatory Factor Analysis (CFA) was used to obtain a model fit index.Results29 questions were retained after the final analysis. Both EFA and Rasch analysis detect multidimensionality. Nine latent factors were extracted from EFA, while only eight factors remained in the final model following CFA: 1) perceived susceptibility; 2) perceived severity; 3) perceived barrier; 4) perceived benefit; 5) cues to action; 6) self-efficacy; 7) attitude; and 8) practice. All items had adequate factor loadings and showed good internal consistency. The final model after CFA achieved a good fit with an RMSEA value of 0.061, SRMR of 0.068, PNFI of 0.649, and GFI of 0.996.ConclusionThe RPAP questionnaire contains 29 items and is a reliable and accurate psychometric instrument for measuring the risk perception of dengue fever, attitude, and practice of the community in dengue prevention. The Rasch measurement provides additional rigour to complement the CTT analysis. This RPAP questionnaire is suitable for use in studies related to dengue prevention in the community.