bluuebunny/crossref_metadata_2025_split huggingface dataset:
Healthcare practitioners’ knowledge, attitudes and practices of genetics and genetic testing in low- or middle-income countries - A scoping review
Authors: Walters Sarah , Aldous Colleen , Malherbe Helen 
Published: February 2023

Abstract
Background
It is twenty years since the human genome was published. The role of the primary healthcare practitioner (pHCP) in diagnosing and caring for individuals with genetic conditions is envisioned to increase as this knowledge is applied to enable individualised treatment. It is imperative that their genetics knowledge and practices stay current and in line with local or international guidelines.
Method
This scoping review aimed to identify articles in the peer-reviewed, published literature to understand the knowledge, attitudes and practices of pHCP related to genetics, genetic testing and genetic services. Peer-reviewed, full text, journal articles in English focused on human genetics/genomics knowledge, attitudes and practices in low- or middle-income countries (LMIC) and published between January 1990 to April 2022 were included. Both quantitative and qualitative aspects of the literature were examined.
Results
Twenty-eight articles from 16 LMIC across five World Health Organisation (WHO) -defined regions met the inclusion criteria. The number of articles in LMIC has increased over the years and included articles ranged from 1991 to 2021. The South East Asia Region (SEAR) published the most articles (n=8; 29%) and the Western Pacific Region (WPR) the least (n=2; 7%). Ten countries published only one article each, whereas Brazil published the most (n=6; 22%). Eleven articles reported on single gene disorders (39%) and new technologies of pharmacogenomics and genome editing were reported once each (3%). Nineteen articles included aspects of attitude towards genetics, while eight included practices.
Primary HCP lack of knowledge was evident in genetic diseases, emerging technologies, referral of patients to genetic specialists and clinical guidelines for managing genetic conditions. Attitudes towards genetic services and new technologies were generally positive. Barriers to genetic services identified, included inadequate genetic services and required capacity, financial limitations and religious reasons.
Conclusions
Addressing and implementing education of pHCP is necessary to enable appropriate care for patients and families in need. There is a lack of published literature in LMIC regarding pHCP genetic knowledge, attitudes and practices. More research is required on educational interventions for practising pHCP and how to improve their ability to care for patients and families with genetic conditions.
Solar photo-Fenton optimization at neutral pH for microcontaminant removal at pilot plant scale
Authors: Hinojosa Mercedes , Oller Isabel , Quiroga José María , Malato Sixto , Egea-Corbacho Agata , Acevedo-Merino Asunción 
Published: February 2023

Abstract
The increasing occurrence of micropollutants in natural water bodies has medium to long-term effects on both aquatic life and human health. The aim of this study is to optimize the degradation of two pharmaceutical pollutants of emerging concern: amoxicillin and acetaminophen in aqueous solution at laboratory and pilot scale, by solar photo-Fenton process carried out at neutral pH using EDDS as a complexing agent to maintain iron in solution. The initial concentration of each compound was set at 1 mg/L dissolved in a simulated effluent from a municipal wastewater treatment plant (MWTP). A factorial experimental design and its surface response analysis were used to optimise the operating parameters to achieve the highest initial degradation rate of each target. The evolution of the degradation process was measured by Ultra Performance Liquid Chromatography (UPLC/UV), obtaining elimination rates above 90% for both contaminants. Statistical study showed the optimum concentrations of Fe(III) at 3 mg/L at an Fe-EDDS ratio of 1:2 and 2.75 mg/L H2O2 for the almost complete removal of the target compounds by solar photo-Fenton process. Validation of the experimental design was successfully carried out with actual MWTP effluent spiked with 100µg/L of amoxicillin and acetaminophen at pilot plant scale.
Ultrahigh performance and multifunctional flexible biomimetic electronic whiskers for intelligent perception
Authors: Chen Cheng , Li Xin-Lin , Zhao Shumi , Zhong Chuanyu , Song Yang , Chen Rui , Li Erqiang , Li Zhijun , Liu Jian-Wei 
Published: February 2023

Abstract
The humanoid robots that can operate in complex and extreme environments are capable of detecting and discerning various stimuli by the sensors mimicking the human skin sensory system. Herein, we report a flexible biomimetic electronic whisker that greatly expands the diversity of perception in an extremely simple design, including proximity, temperature, pressure, wind, and vibration, which can also discriminate these perception signals. Notably, the biomimetic whisker fabricated using scalable processes possesses a wide-range measurements of bimodal temperature (-189 oC to 150 oC for object, -85 oC to 60 oC for surroundings) and wind speed (1 m s-1 to 20.4 m s-1), with bending stability (250000 cycles), the response of slight pressure (0.07 mN), and the sense of vibration (1000 Hz). In the frame of machine learning, we finally exploit the sensor to demonstrate the outstanding potential in robotics and human-machine interfaces.
Non-Syndromic Cone-Predominant Retinal Degeneration Associated with Homozygosity for the M390R Mutation in BBS1 Gene
Authors: Neves Emmanuel Rebelo , Carvalho Ana Luísa , Raimundo Miguel , Murta Joaquim Neto , Saraiva Jorge , Silva Rufino , Marques João Pedro 
Published: February 2023

Abstract
Introduction: Bardet-Biedl syndrome (BBS) is ciliopathy characterized by retinal degeneration, truncal obesity, post-axial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities (e.g., renal cysts). BBS has an autosomal recessive inheritance pattern, and the most common disease-causing gene is BBS1, with M390R being the most prevalent mutation. Retinal degeneration in BBS is usually a rod-cone degeneration. Nevertheless, phenotypic variability exists, and cone-rod degeneration has also been reported in BBS1-related disease, as well as non-syndromic retinitis pigmentosa (RP). We present a case of a patient with homozygous M390R mutations and non-syndromic cone-predominant retinal degeneration.
Methods: Case-report conducted at a tertiary-care academic hospital.
Results: A 36-year-old male patient with homozygous M390R BBS1 mutations and no family history of retinal disease or consanguinity began follow-up at age 19, after noticing photophobia. Best-corrected visual acuity (BCVA) was 20/32 OD and 20/25 OS. The fundus showed bilateral temporal wedge-shaped pallor of the optic disc and atrophic maculopathy with foveal depigmentation, which translated to hypoautofluorescence on fundus autofluorescence (FAF). Electroretinography revealed cone-rod dysfunction and center-involving maculopathy. Seventeen years later, BCVA was 20/100 OD and 20/80 OS, and the fundus changes overlapped those at baseline. Nevertheless, a slight enlargement of the atrophic lesions was observed on FAF. Despite a thorough systemic evaluation, including abdominal and renal ultrasound, no other major or secondary features of BBS were found.
Discussion: To the extent of our knowledge, this is the first reported case of non-syndromic cone-predominant retinal degeneration in a patient harboring homozygous M390R BBS1mutations.
Trade Agreements and Tobacco Control Policy: Analysis of the Regulatory Patterns and the Influence of FCTC on Trade agreements from 2001 to 2019
Authors: Chen Tzu-ying , Lin Ying-Jun , Chiang Tung-Liang , Tsai Feng-jen 
Published: February 2023

Abstract
Background: This study aims to analyze the influence of Framework of Convention of Tobacco Control (FCTC) on regulatory patterns of trade agreements from 2001 to 2019.
Methods: A search of trade agreements from‘WTO Regional Free Trade Agreement Database’ using keywords as “tobacco”, “cigarette”, “smoking” and “FCTC” from May to August 2020 resulted in a total sample of 268 trade agreements, from which 69 trade agreements were coded and analyzed. The keywords-located provisions in the trade agreements were categorized as 6 trade measures. The word counts of the provisions containing keyword as FCTC were calculated. Chi-square tests were applied to analyze the differences of regulatory patterns between different time frames. The import and export values (USD) of tobacco products under trade agreements containing the term “FCTC” were further collected from the “International Trade Statistics 2001-2020” for a preliminary understanding of trade flow impacted by FCTC.
Results: Among 69 agreements, the percentage of trade agreements containing keyword as “FCTC” increased significantly from 0% before 2011 to 12% after 2011. A significant decrease of using trade measures as “the exclusion list” was found after 2011 (from 10% to 0). The word counts of provisions containing keyword as FCTC increased from 24 words in 2011 to 164 words in 2018, and the content of the provisions became more concrete over time. There are six trade agreements containing the keyword as “FCTC”, and all these 6 agreements were ratified by European Union (EU). Despite EU ratified trade agreements with “FCTC”, the import and export values of tobacco products between EU and the other party countries increased with time. But the gap of average trade values between trade agreements with and without “FCTC” being widened with time.
Conclusions: As a first study evaluated the impact of FCTC on regulatory patterns of trade agreements, our study results showed that after countries signed trade agreements containing keyword FCTC, the regulatory patterns changed significantly. Further studies are recommended to understand the reason and criteria for incorporating FCTC provisions into trade agreements, especially in the EU.
Genome-wide association study for growth traits in Blanco Orejinegro and Romosinuano cattle
Authors: BEJARANO DIEGO , MARTINEZ RODRIGO , Rocha Juan Felipe Martinez 
Published: February 2023

Abstract
Growth traits are economically important characteristics for the genetic improvement of local cattle breeds. Genome-wide association studies (GWAS) provide valuable information to enhance the understanding on the genetics of complex traits. The aim of this study was to perform a GWAS to identify genomic regions and genes associated to birth weight, weaning weight adjusted for 240 days, 16-months and 24-months weight in Romosinuano (ROMO) and Blanco Orejinegro (BON) cattle. A single-step genomic-BLUP was implemented using 596 BON and 569 ROMO individuals that were genotyped with an Illumina BovineSNP50 BeadChip. There were 25 regions of interest identified on different sets of chromosomes depending on the breed, with few of them simultaneously associated with two or more growth traits and some were common to both breeds. A total of 173 annotations were found during the gene mapping, with 50 of them being potential candidate genes with known growth-related functions in cattle and other species. On BTA14, a region at 24 – 27 MB where important candidate genes such as LYPLA1, XKR4, TMEM68 and PLAG1 are located, was associated with several growth traits. Another region of interest at 0.40-0.77 MB of BTA23 was identified in both breeds, containing KHDRBS2 as a potential candidate gene influencing body weight. Future studies targeting these areas could provide more knowledge to uncover the genetic architecture underlying growth traits in BON and ROMO cattle. The genomic regions and genes identified in this study could be used to improve the prediction of genetic merit for growth traits in this creole cattle breeds.
Assessing total erythrocyte count as a potential attribute for estimating hemoglobin in Cholistani cattle
Authors: Farooq Umer , Idris Musadiq , Sajjad Nouman , Afzal Muhammad Abrar 
Published: February 2023

Abstract
The present study was devised with an aim of assessing an interrelationship between Total Erythrocyte Count (TEC) and Hemoglobin (Hb) concentration, and assessing the potential of TEC for estimating Hb level in Cholistani cattle (n = 264). The TEC and Hb (HbD) estimation was carried out through veterinary hematology analyzer. The Hb was also calculated as TEC × 3 and was termed as HbC. Scatter-plots were drawn and linear regression was carried out between TEC, HbD, HbC and CHB. The regression prediction equation hence attained was used to deduce corrected hemoglobin (CHb). A significant (P ≤ 0.05) difference was noticed between HbD and HbC. A non-significant (P ≥ 0.05) difference was noticed, however, between HbD and CHb. Tests of level of agreement indicated a higher Cronbach Alpha and Interclass Correlation Coefficient (0.682 for average measures) for HbD and CHb as compared to that for HbD and HbC (0.559 for average measures). A convention of Hb concentration as three times of TEC (×3) is not valid for Cholistani cattle. A different pen-side hematological formula i.e. Hb (g/dL) = 0.66(TEC) + 6.1, however, may provide reliable results for Hb estimation from the TEC in cattle. Using hemocytometry for TEC in the field, all the stakeholders associated with veterinary research, academics and practice may benefit from this formula in resource-poor countries.
Antitumor activity of DABA-containing carboxylate Zn complexes on breast cancer cell line MCF-7
Authors: Liu Wei , Lu Hongmei , Xu Xun , Yuan Kangrui , Yang Xinyi , Tan Xiaojun , Zhang Xueyang , Kun Liu , Wu Dudu , Lu Chengyu , Ruan Yongdui , chen zhi 
Published: February 2023

Abstract
The coordination polymer [Zn2(DABA)3(CH3OH)] (DABA=4-dimethylaminobenzoic acid) (ZP) was obtained by hydrothermal synthesis using DABA and Zn(NO3)2·6H2O as substrates. The exact structure of ZP was confirmed by thermogravimetric analysis (TGA), Fourier transforms infrared spectroscopy (FTIR)， and single-crystal X-ray diffraction. The Cell Counting Kit-8 (CCK-8) assay was used to detect the cytotoxicity of ZP on the following cell types (A549, HepG2, Huh-7, MCF-7, LO2 cells), and the results showed that the complex was significantly toxic to MCF-7 cell line and less toxic to normal hepatocytes LO2. In addition, the cell cycle and mitochondrial membrane potential of the MCF-7 cell line were further measured by flow cytometry, and the experimental results indicated that different concentrations of the drug blocked the cell cycle in the S phase and significantly reduced the mitochondrial membrane potential. Western Blot experiments illustrated that ZP was able to upregulate the expression levels of cleaved PARP, cleaved caspase and bax protein and downregulate the expression level of bcl-2. These results suggest that ZP inhibits tumor cell apoptosis through a mitochondria-mediated pathway, accompanied by the regulation of bcl-2 and caspase family proteins.
Moving Upstream: Health System Partnerships Addressing Social Determinants of Health through Community Wealth Building
Authors: Gusoff Geoffrey M. , Zuckerman David , Pham Bich Ha , Ryan Gery W. 
Published: February 2023

Abstract
Background
Health system interventions addressing social needs such as food and housing generally fail to impact the upstream wealth and power inequities underlying those needs. However, a small number of health systems have begun addressing these upstream inequities by partnering with community wealth building initiatives. These initiatives include community land trusts, resident-owned communities, and worker cooperatives, which provide local residents ownership and control over their housing and workplaces. While these partnerships represent a novel, upstream approach to the social determinants of health, no research has yet evaluated them.
Methods
To assess the current state and key aspects of health system-community wealth building partnerships, we conducted semi-structured interviews with thirty-eight key informants across ten partnerships identified through the Healthcare Anchor Network. To analyze the interviews, we used a two-stage coding process. First, we coded responses based on the phase of the intervention to which they corresponded. Then we assessed responses within each aspect for common themes and variation on salient topics.
Results
We identified themes across four phases of the partnerships – motivation, initiation, implementation, and evaluation. Partnerships were generally motivated by a combination of community needs, such as affordable housing and living wage jobs, and health system interests, such as workforce housing and supply chain resilience. Initiating projects required educating leadership and utilizing de-risking strategies to obtain health system buy-in as well as conducting a health system landscape analysis to identify both internal capacities and external partners. Implementation took various forms, with health systems providing financial capital in the form of grants and loans, social capital in the form of convening funders and other stakeholders, and/or capacity building support in the form of strategic planning or technical assistance resources. To evaluate projects, health systems used process and community-level metrics rather than metrics based on individual health outcomes or returns on investment. Based on best practices from each partnership phase, we provide a road map for health systems to develop effective community wealth building partnerships.
Conclusions
Our findings suggest community wealth building represents a promising and largely untapped approach for health systems to address the upstream causes of poor health.
Quantifying and Mapping the Realized Value of Ecosystem Services in Megacities
Authors: Xu Liyan , Li Jue , Li Yipu 
Published: February 2023

Abstract
Spatial mechanisms significantly influence the delivery of ecosystem services (ES) from the provision to the benefiting parties, and their specific impacts on the realized value of ecosystem services (RVES) are yet to be clarified. In this paper, by introducing distance-decay and landscape configuration variables into a real estate hedonic price model and taking Beijing as an example, we systematically examine the effects of various spatial mechanisms on RVES in an urban setting. Results show that the contribution of ES to real property values is 20.4%, two thirds of which is contributed by spatial factors at various scales. Moreover, the RVES yielded in this paper is about two orders of magnitude higher than that assessed using the conventional “per unit-area ES value” approach, which hints at a very different picture of ES value distribution when the realization, rather than the sole provision of ES values is concerned.
Long-lived Quantum State Storage Based on Coherent Mechanical Excitations
Authors: Liu Yulong , Liu Qichun , Sun Huanying , Chen Mo , Wang Shuai-Peng , Li Tie-Fu 
Published: February 2023

Abstract
Mechanical resonators, their capability to host ultralong-lived phonon modes, are particularly attractive for quantum state storage and as memory elements in conjunction with quantum computing and communication devices. Here, we demonstrate mechanical quantum memory based on a high-stressed silicon nitride (SiN) membrane which is sideband cooled down to its ground state. We investigate an itinerant microwave field captured, stored, and retrieved from a mechanical oscillator based on write and readout pulses that have exponential envelopes. By projecting the retrieval transfer pulse to orthogonal and damped oscillatory functions, we determine two quadrature amplitudes and yield a single point in the quadrature phase space that represents the best estimate of the mechanical resonator. The phase space distribution allows us to distinguish between coherent and thermal components and their evolution as a function of the storage time. Benefitting from the long coherence property of the SiN mechanical oscillator, we demonstrate that such mechanical quantum memory performs attractive functions with an energy decay time of T1= 15.9 s, and acquires less than one quantum noise during the Τcoh = 55.7 ms storage period. These results suggest that high-Q mechanical resonators and long coherence time phonons could be ideal candidates for the construction of microwave quantum memories
Metal Organic Framework Template-Guided Electrochemical Lithography
Authors: Lu Youyou , Zhang Xuan , Zhao Liyan , Mochizuki Kenji , Yang Shikuan 
Published: February 2023

Abstract
The templating method is promising in fabrication of surface nanopatterns. Exploring new functions of the templates besides the masking and the molding function are important to strengthen their manufacturing capability towards complex surface nanopatterns. Here, we employed the metal organic framework (MOF) octahedra assembled monolayer as a template to perform metal electrodeposition and revealed the previously unidentified guiding growth mode capable of growing metallic films exactly underneath the MOF octahedra. The fast ion transport within the nanochannels of the MOF octahedral accounted for the guiding growth mode proven by the experimental measurements and the molecular dynamics simulations. The MOF template could be repeatedly used to create the same metallic surface nanopatterns on different substrates. The recyclability and the feasibility to create fine MOF nanopatterns using sophisticated lithographic methods endow the MOF’s guiding growth mode with great potentials in creating complex metallic surface nanopatterns at a low cost.
Structure-evolution-designed amorphous oxides for dielectric energy storage
Authors: Yu Yahui , Zhang Qing , Xu Zhiyu , Zheng Weijie , Xu Jibo , Xi Zhongnan , Zhu Lin , Ding Chunyan , Cao Yanqiang , Zheng Chunyan , Qin Yalin , Li Shandong , Li Ai-Dong , Wu Di , Rabe Karin , Liu Xiaohui , Wen Zheng 
Published: February 2023

Abstract
Dielectric capacitors are fundamental for electric power systems due to the fast charging/discharging rate and high-power density.[1,2] Recently, rapidly increased demands of miniaturization and integration continuously challenge energy storage density of dielectric capacitors, especially for that could be compatible with the complementary metal-oxide-semiconductor (CMOS) technology, for developing energy-autonomous systems and implantable/wearable electronics, where high-κ capacitors become increasingly desirable in the next-generation applications.[3-5] However, their recoverable energy storage densities (Urec) are low in emerging capacitive energy storage materials. Here, by structure evolution between fluorite HfO2 and perovskite hafnate who have similar metal sublattices, we create an amorphous hafnium-based oxide that exhibits a giant Urec of ~155 J/cm3 with an efficiency (η) of 87%, which is record-high in high-κ materials and state-of-the-art in dielectric energy storage. The improved energy density is owing to the strong structure disordering in both short and long ranges induced by oxygen instability in between the two energetically-favorable crystalline forms. As a result, the carrier avalanche is impeded and an ultrahigh breakdown strength (Eb) up to 12 MV/cm is achieved, which, accompanying with a large permittivity (εr), remarkably enhances the dielectric energy storage. Our study provides a new and widely applicable playground for designing high-performance dielectric energy storage with the strategy exploring the boundary among different categories of materials.