bluuebunny/crossref_metadata_2025_split huggingface dataset:
Implementation and implications for polygenic risk scores in healthcare
Authors: Slunecka John L. , van der Zee Matthijs D. , Beck Jeffrey J. , Johnson Brandon N. , Finnicum Casey T. , Pool René , Hottenga Jouke-Jan , de Geus Eco J. C. , Ehli Erik A. 
Published: July 2021

AbstractIncreasing amounts of genetic data have led to the development of polygenic risk scores (PRSs) for a variety of diseases. These scores, built from the summary statistics of genome-wide association studies (GWASs), are able to stratify individuals based on their genetic risk of developing various common diseases and could potentially be used to optimize the use of screening and preventative treatments and improve personalized care for patients. Many challenges are yet to be overcome, including PRS validation, healthcare professional and patient education, and healthcare systems integration. Ethical challenges are also present in how this information is used and the current lack of diverse populations with PRSs available. In this review, we discuss the topics above and cover the nature of PRSs, visualization schemes, and how PRSs can be improved. With these tools on the horizon for multiple diseases, scientists, clinicians, health systems, regulatory bodies, and the public should discuss the uses, benefits, and potential risks of PRSs.
Preventive behaviours and family inequalities during the COVID-19 pandemic: a cross-sectional study in China
Authors: Ye Yisheng , Wu Ruijun , Ge Yao , Wang Tao , Yao Xin , Yang Yao , Long Chengxu , Chen Fangfei , Tang Shangfeng , Huang Rui 
Published: July 2021

Abstract
Background
The coronavirus disease 2019 (COVID-19) pandemic is an international public health threat, and people's participation in disease-related preventive behaviours is the key to controlling infectious diseases. This study aimed to assess the differences in adopting preventive behaviours among populations to explore potential individual and household factors and inequalities within families.

Methods
This online survey was conducted in April 2020. The directional stratified convenient sampling method was used to select 4704 participants from eight provinces in eastern, central, and western China. The questionnaire included demographic information, household variables, and five target prevention behaviours. The chi-squared test, binary multilevel model, and Mantel–Haenszel hierarchical analysis were used for data analysis in the study.

Results
Approximately 71.2% of the participants had appropriate outdoor prevention, and 32.9% of the participants had indoor protection in place. Sharing behaviours (P < 0.001) and education level (P < 0.001) were positively associated with adopting preventive measures. The inhibiting effect of household crowding and stimulating effect of high household income on preventive behaviours were determined in this study. Household size was negatively associated with living area (β = -0.057, P < 0.05) and living style (β = -0.077, P < 0.05). Household income was positively associated with age (β = 0.023, P < 0.05), and relationship with friends (β = 0.053, P < 0.05). Vulnerable groups, such as older adults or women, are more likely to have inadequate preventive behaviours. Older adults (OR = 1.53, 95% CI 1.09–2.15), women (OR = 1.37, 95% CI 1.15–1.64), and those with more than 2 suspected symptoms (OR = 1.85, 95% CI 1.07–3.19) were more likely to be affected by the inhibiting effect of household crowding, while the stimulating effect of high household income was limited in these groups.

Conclusions
Inequalities in COVID-19 prevention behaviours exist between families and inadequate adoption of prevention by vulnerable groups are noteworthy. This study expands the research perspective by emphasizing the role of household factors in preventive behaviours and by focusing on family inequalities. The government should use traditional media as a platform to enhance residents’ public health knowledge. Targeted additional wage subsidies, investments in affordable housing, financial support for multigenerational households, and temporary relocation policies may deserve more attention. Communities could play a critical role in COVID-19 prevention.

Graphical abstract
Characterization of point-spread function specification error on Geometric Transfer Matrix partial volume correction in [11C]PiB amyloid imaging
Authors: Laymon Charles M. , Minhas Davneet S. , Royse Sarah K. , Aizenstein Howard J. , Cohen Ann D. , Tudorascu Dana L. , Klunk William E. 
Published: July 2021

Abstract
Purpose
Partial-volume correction (PVC) using the Geometric Transfer Matrix (GTM) method is used in positron emission tomography (PET) to compensate for the effects of spatial resolution on quantitation. We evaluate the effect of misspecification of scanner point-spread function (PSF) on GTM results in amyloid imaging, including the effect on amyloid status classification (positive or negative).

Methods
Twenty-nine subjects with Pittsburgh Compound B ([11C]PiB) PET and structural T1 MR imaging were analyzed. FreeSurfer 5.3 (FS) was used to parcellate MR images into regions-of-interest (ROIs) that were used to extract radioactivity concentration values from the PET images. GTM PVC was performed using our “standard” PSF parameterization [3D Gaussian, full-width at half-maximum (w) of approximately 5 mm]. Additional GTM PVC was performed with “incorrect” parameterizations, taken around the correct value. The result is a set of regional activity values for each of the GTM applications. For each case, activity values from various ROIs were combined and normalized to produce standardized uptake value ratios (SUVRs) for nine standard [11C]PiB quantitation ROIs and a global region. GTM operating-point characteristics were determined from the slope of apparent SUVR versus w curves.

Results
Errors in specification of w on the order of 1 mm (3D) mainly produce only modest errors of up to a few percent. An exception was the anterior ventral striatum in which fractional errors of up to 0.29 per millimeter (3D) of error in w were observed.

Conclusion
While this study does not address all the issues regarding the quantitative strengths and weakness of GTM PVC, we find that with reasonable caution, the unavoidable inaccuracies associated with PSF specification do not preclude its use in amyloid quantitation.
PTD-mediated delivery of α-globin chain into Κ-562 erythroleukemia cells and α-thalassemic (HBH) patients’ RBCs ex vivo in the frame of Protein Replacement Therapy
Authors: Miliotou Androulla N. , Papagiannopoulou Dionysia , Vlachaki Efthymia , Samiotaki Martina , Laspa Dimitra , Theodoridou Stamatia , Tsiftsoglou Asterios S. , Papadopoulou Lefkothea C. 
Published: July 2021

Abstract
Background
α-Thalassemia, a congenital hemoglobinopathy, is characterized by deficiency and/or reduced levels of α-globin chains in serious forms of α-thalassemia (HbH disease/Hb Bart’s). This research work deals with a Protein Replacement Therapy approach in order to manage α-thalassemia manifestations, caused by the excess of β-globin chain into HbH RBCs. The main goal was to produce the recombinant human α-globin chain in fusion with TAT, a Protein Transduction Domain, to ex vivo deliver it into HbH patients RBCs, to replace the endogenous missing α-globin chain.

Results
Cloning of the α-globin coding sequence, fused to the nucleotide sequence of TAT peptide was conducted and the human recombinant fusion proteins, 10xHis-XaSITE-α-globin-HA and 10xHis-XaSITE-TAT-α-globin-HA were produced. The ability of human recombinant 10xHis-XaSITE-α-globin-HA to interact in vitro with the previously produced 10xHis-XaSITE-TAT-β-globin-HA and form α-/β-globin heterodimers, was assessed and confirmed by size exclusion chromatography. The recombinant 10xHis-XaSITE-TAT-α-globin-HA was successfully delivered into human proerythroid K-562 cells, during the preliminary transduction evaluation experiments. Finally, the recombinant, TAT-fused α-globin was successfully transduced into RBCs, derived from HbH patients and reduced the formation of HbH-Inclusion Bodies, known to contain harmful β4-globin chain tetramers.

Conclusions
Our data confirm the successful ex vivo transduction of recombinant α-globin chains in HbH RBCs to replace the missing a-globin chain and reduce the HbH-inclusion bodies, seen in α-thalassemias. These findings broaden the possibility of applying a Protein Replacement Therapy approach to module sever forms of α-thalassemia, using recombinant α-globin chains, through PTD technology.
Biochemical and molecular characterization of Alternaria alternata isolates highly resistant to procymidone from broccoli and cabbage
Authors: Wang Bingran , Lou Tiancheng , Wei Lingling , Chen Wenchan , Huang Longbing , Ding Lei , Zhao Weicheng , Zhang Pengcheng , Sun Patrick , Chen Changjun , Wang Kai 
Published: July 2021

AbstractAlternaria alternata, a causal agent of leaf blights and spots on a wide range of hosts, has a high risk of developing resistance to fungicides. Procymidone, a dicarboximide fungicide (DCF), has been widely used in controlling Alternaria leaf blights in China for decades. However, the resistance of A. alternata against DCFs has rarely been reported from crucifer plants. A total of 198 A. alternata isolates were collected from commercial fields of broccoli and cabbage during 2018–2019, and their sensitivities to procymidone were determined. Biochemical and molecular characteristics were subsequently compared between the high-level procymidone-resistant (ProHR) and procymidone-sensitive (ProS) isolates, and also between ProHR isolates from broccoli and cabbage. Compared with ProS isolates, the mycelial growth rate, sporulation capacity and virulence of most ProHR isolates were reduced; ProHR isolates displayed an increased sensitivity to osmotic stresses and a reduced sensitivity to sodium dodecyl sulfate (SDS); all ProHR isolates showed a reduced sensitivity to hydrogen peroxide (H2O2) except for the isolate B102. Correlation analysis revealed a positive cross-resistance between procymidone and iprodione, or fludioxonil. When treated with 10 μg/mL of procymidone, both mycelial intracellular glycerol accumulations (MIGAs) and relative expression of AaHK1 in ProS isolates were higher than those in ProHR isolates. Sequence alignment of AaHK1 from ten ProHR isolates demonstrated that five of them possessed a single-point mutation (P94A, V612L, E708K or Q924STOP), and four isolates had an insertion or a deletion in their coding regions. No significant difference in biochemical characteristics was observed among ProHR isolates from two different hosts, though mutations in AaHK1 of the cabbage-originated ProHR isolates were distinct from those of the broccoli-originated ProHR isolates.
Missed nursing care, non-nursing tasks, staffing adequacy, and job satisfaction among nurses in a teaching hospital in Egypt
Authors: Hammad Marwa , Guirguis Wafaa , Mosallam Rasha 
Published: July 2021

Abstract
Background
Missed nursing care (MNC) has been linked to patient harm in a growing body of literature. However, this issue is still not adequately investigated in developing countries. The aim of the study is to measure the extent of missed nursing care, to identify its types, and to determine factors contributing to missed nursing care.

Methods
A cross-sectional design was used. The study was conducted among 50 units at 1762-beds teaching Hospital in Alexandria that employs 1211 nurses in inpatient areas. A sample of 553 nurses were interviewed using the MISSCARE and the N4CAST survey. The MISSCARE survey measured the amount of missed nursing care (MNC) that was experienced on the last worked shift by each nurse. The N4CAST survey was used to collect data about level of non-nursing work carried out by nurses and the nurses’ job satisfaction.

Results
The overall mean score for the missed nursing care was 2.26 ± 0.96 out of 5, with highest mean score attributed to “Planning” and lowest mean score attributed to “Assessment and Vital Signs” (2.64 and 1.96, respectively). Missed nursing care was significantly associated with number of patients admitted and cared for in the last shift and perceived staffing adequacy. Almost all non-nursing care tasks and most of satisfaction elements showed negative weak correlation with overall missed nursing care.

Conclusion
Missed Nursing Care is common in study hospital which may endanger patient safety. MNC Missed Nursing Care is positively associated with nursing adequacy. There is no association between MNC and neither nurses’ job satisfaction nor non-nursing tasks. Nursing leaders should monitor missed nursing care and the environmental and staffing conditions associated with it in order to design strategies to reduce such phenomena.
Prevalence and risk factors of autism spectrum disorders in preschool children in Sharkia, Egypt: a community-based study
Authors: Yousef Amira Mohamed , Roshdy Eman H. , Abdel Fattah Nelly R. , Said Randa M. , Atia Maha M. , Hafez Elham M. , Mohamed Amany Elshabrawy 
Published: July 2021

Abstract
Background
Lateness in the diagnosis of autism spectrum disorders (ASD) results in significant disability and pressure on affected children and their families. We aimed to detect the preschool children who have high-risk criteria for ASD in Sharkia Governorate in Egypt and assess the prevalence and risk factors of ASD. A cross-sectional community-based study was done in 39 kindergartens throughout Sharkia Governorate, Egypt, using a multi-stage random sampling technique. The study included two phases, the screening phase, where 3722 preschool children were screened by Modified Check List for Toddlers/Revised (M-CHAT-R), and the diagnostic phase where the diagnosis of ASD among the high-risk children was made according to the research diagnostic criteria of Diagnostic and Statistical Manual of Mental Disorders 5th edition (DSM-5) of ASD administrated by experienced psychiatrists and the Childhood Autism Rating Scale (CARS).

Results
This study showed that 2.8% of children were at high risk for ASD. The prevalence of ASD in Sharkia Governorate was 5.4/1000. The significant risk factors for the disorder were the presence of factories near the house, first and middle child order, congenital anomalies, child medication during the first year of life, child chronic medical condition, child attachment to TV, a medical condition affecting mother during pregnancy, and psychiatric disorders history in the family.

Conclusion
Autism spectrum disorder is prevalent in preschool children in Sharkia, Egypt, and multiple risk factors contribute to this prevalence.
Physiologic Frailty and Neurocognitive Decline Among Young-Adult Childhood Cancer Survivors: A Prospective Study From the St Jude Lifetime Cohort
Authors: Williams AnnaLynn M. , Krull Kevin R. , Howell Carrie R. , Banerjee Pia , Brinkman Tara M. , Kaste Sue C. , Partin Robyn E. , Srivastava Deokumar , Yasui Yutaka , Armstrong Gregory T. , Robison Leslie L. , Hudson Melissa M. , Ness Kirsten K. 
Published: July 2021

PURPOSE Eight percent of young-adult childhood cancer survivors meet criteria for frailty, an aging phenotype associated with poor health. In the elderly general population, frailty is associated with neurocognitive decline; this association has not been examined in adult survivors of childhood cancer. METHODS Childhood cancer survivors 18-45 years old (≥ 10 years from diagnosis) were clinically evaluated for prefrailty or frailty (respectively defined as ≥ 2 or ≥ 3 of: muscle wasting, muscle weakness, low energy expenditure, slow walking speed, and exhaustion [Fried criteria]) and completed neuropsychologic assessments at enrollment (January 2008-June 2013) and 5 years later. Weighted linear regression using inverse of sampling probability estimates as weights compared differences in neurocognitive decline in prefrail and frail survivors versus nonfrail survivors, adjusting for diagnosis age, sex, race, CNS–directed therapy (cranial radiation, intrathecal chemotherapy, and neurosurgery), and baseline neurocognitive performance. RESULTS Survivors were on average 30 years old and 22 years from diagnosis; 18% were prefrail and 6% frail at enrollment. Frail survivors declined an average of 0.54 standard deviation (95% CI, −0.93 to −0.15) in short-term verbal recall, whereas nonfrail survivors did not decline (β = .22; difference of βs = −.76; 95% CI, −1.19 to −0.33). Frail survivors declined more than nonfrail survivors on visual-motor processing speed (β = −.40; 95% CI, −0.67 to −0.12), cognitive flexibility (β = −.62; 95% CI, −1.02 to −0.22), and verbal fluency (β = −.23; 95% CI, −0.41 to −0.05). Prefrail and frail survivors experienced greater declines in focused attention (prefrail β = −.35; 95% CI, −0.53 to −0.17; frail β = −.48; 95% CI, −0.83 to −0.12) compared with nonfrail survivors. CONCLUSION Over approximately 5 years, prefrail and frail young-adult survivors had greater declines in cognitive domains associated with aging and dementia compared with nonfrail survivors. Interventions that have global impact, designed to target the mechanistic underpinnings of frailty, may also mitigate or prevent neurocognitive decline.
Obesity Is Strongly Associated With Low Testosterone and Reduced Penis Growth During Development
Authors: Mancini Mario , Pecori Giraldi Francesca , Andreassi Alice , Mantellassi Gianna , Salvioni Michela , Berra Cesare C , Manfrini Roberto , Banderali Giuseppe , Folli Franco 
Published: July 2021

Abstract

Context
Growth of male genitalia represents an important marker of sexual development. Testicle size is the primary measure and little is known regards penile length changes during puberty.

Objective
This work aims to assess penis growth and testosterone levels in obese vs normal-weight children and adolescents, to evaluate a possible influence of obesity on genital development in boys, and to establish a new method for measuring penis length that allows comparison of normal-weight and overweight boys.

Methods
We assessed anthropometric and genital development in 1130 boys from birth to age 20 years. Testosterone levels were also measured. A new method for penile length measurement was employed to minimize errors when comparing obese and nonobese children. Penis length was measured with a gentle, painless, straight positioning on a centimetric ruler without stretching, which is doable from the first years of life until the end of adolescence.

Results
Penis length and testosterone are strongly related in children during puberty. Penile length growth is significantly decreased (by about 10%) in obese boys when compared to normal-weight boys, with concomitantly reduced testosterone levels, across puberal phases.

Conclusion
Childhood obesity represents an important determinant of lower testosterone level and reduced penis development. A new method should be employed to improve penis measurement in normal-weight and overweight/obese boys. The possible significance of these observations for adult genital development and reproductive potential will require large longitudinal studies.
Patient Satisfaction Through an Immersive Experience Using a Mobile Phone–Based Head-Mounted Display During Arthroscopic Knee Surgery Under Spinal Anesthesia: A Randomized Clinical Trial
Authors: Tharion Joseph G. , Kale Suniti 
Published: July 2021

BACKGROUND:
Patient satisfaction is an important element of high-quality health care. Virtual reality has been studied for its sedative and analgesic effects, as it immerses the patient into an artificial interactive environment. Deriving from this concept, we hypothesized that an immersive experience that engulfs the senses with noninteractive visual and auditory stimuli would have a positive effect on satisfaction and anxiety in patients undergoing spinal anesthesia.

METHODS:
We enrolled and randomized 90 patients undergoing spinal anesthesia for arthroscopic knee surgery into an immersive experience arm and an intravenous midazolam sedation arm. The immersive experience was provided through a mobile phone–based head-mounted display showing binocular monoscopic video and noise-canceling headphones playing audio. The primary outcome measure was postoperative satisfaction, measured using a visual analog scale and compared using the Mann-Whitney U test; secondary outcomes included anxiety score (measured using the 6-item State-Trait Anxiety Inventory), hemodynamic stability, and additional sedative requirement.

RESULTS:
The visual analog scale satisfaction score with immersive experience was significantly higher than with midazolam (median [interquartile range {IQR}] of 93 [82–98] and 80 [73–93], respectively, P = .004), with Hodges-Lehmann median difference estimate of 7 (95% confidence interval, 3–14). The change in anxiety scores from the preoperative to postoperative period between the groups was not significantly different (P = .08), with a Hodges-Lehmann median difference estimate of 3.3 (95% confidence interval, 0–6.7). All patients were hemodynamically stable, were without significant adverse events, and did not require additional sedatives.

CONCLUSIONS:
We have found that an immersive experience is an effective and acceptable intraoperative alternative to pharmacological sedation in patients undergoing arthroscopic knee surgery under spinal anesthesia, with higher satisfaction levels and no detected difference in preoperative to postoperative anxiolytic effect.
B1 lymphocytes develop independently of Notch signaling during mouse embryonic development
Authors: Azevedo Portilho Nathalia , Scarfò Rebecca , Bertesago Elisa , Ismailoglu Ismail , Kyba Michael , Kobayashi Michihiro , Ditadi Andrea , Yoshimoto Momoko 
Published: July 2021

ABSTRACT
B1 lymphocytes are a small but unique component of the innate immune-like cells. However, their ontogenic origin is still a matter of debate. Although it is widely accepted that B1 cells originate early in fetal life, whether or not they arise from hematopoietic stem cells (HSCs) is still unclear. In order to shed light on the B1 cell origin, we set out to determine whether their lineage specification is dependent on Notch signaling, which is essential for the HSC generation and, therefore, all derivatives lineages. Using mouse embryonic stem cells (mESCs) to recapitulate murine embryonic development, we have studied the requirement for Notch signaling during the earliest B-cell lymphopoiesis and found that Rbpj-deficient mESCs are able to generate B1 cells. Their Notch independence was confirmed in ex vivo experiments using Rbpj-deficient embryos. In addition, we found that upregulation of Notch signaling induced the emergence of B2 lymphoid cells. Taken together, these findings indicate that control of Notch signaling dose is crucial for different B-cell lineage specification from endothelial cells and provides pivotal information for their in vitro generation from PSCs for therapeutic applications.
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