bluuebunny/crossref_metadata_2025_split huggingface dataset:
Two different presentations of de novo variants of CSNK2B: two case reports
Authors: Wilke Matheus V. M. B , Oliveira Bibiana M. , Pereira Alessandra , Doriqui Maria Juliana R. , Kok Fernando , Souza Carolina F. M. 
Published: January 2022

Abstract
Background
Poirier–Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by early-onset seizures, hypotonia, and mild dysmorphic features. Craniodigital syndrome is a recently described disorder also related to CSNK2B, with a single report in the literature.

Objective
To report two unrelated cases of children harboring CSNK2B variants (NM_001320.6) who presented with distinct diseases.

Case report
Case 1 is a 7-month-old, Caucasian, female patient with chief complaints of severe hypotonia and drug-refractory myoclonic epilepsy, with a likely pathogenic de novo variant c.494A>G (p.His165Arg). Case 2 is a 5-year-old male, Latino patient with craniodigital intellectual disability syndrome subjacent to a de novo, likely pathogenic variant c.94G>T (p.Asp32Tyr). His dysmorphic features included facial dysmorphisms, supernumerary nipples, and left-hand postaxial polydactyly.

Conclusion
This report suggest that the CSNK2B gene may be involved in the physiopathology of neurodevelopmental disorders and variable dysmorphic features.
How COVID-19 affects the use of evidence informed policymaking among iranian health policymakers and managers
Authors: Bastani Peivand , Bahmaei Jamshid , Kharazinejad Ebrahim , Samadbeik Mahnaz , Liang Zhanming , Schneider Carmen Huckel 
Published: January 2022

Abstract
Background
The COVID-19 pandemic increased the need for new valid scientific evidence to support urgent clinical and policy decision making; as well as improved processes for the rapid synthesis, uptake and application of that evidence. Evidence informed policymaking (EIPM) can be considered as a way to access and use the results of evidence in practice. This study aimed to determine what effects COVID-19 had on the way Iranian health managers and policymakers use evidence in their decisions.

Methods
This study was conducted in 2021 applying a qualitative research design. Data was collected through semi-structured interviews. Thirty health care managers, policy makers and medical university faculty members were recruited as the study participants, initially via a purposive sample, followed by snowballing. A conventional content analysis presented by Hsieh and Shannon (2005) was applied for data analysis.

Results
Ten main themes emerged from the data including: 1) roles and duties of knowledge brokers (KBs); 2-5) the roles, benefits, barriers and necessities of applying Knowledge Translation Exchange (KTE) tools; 6-8) the facilitators, benefits and barriers to the application of evidence during COVID-19; 9) challenges of rapid evidence production evidence during COVID-19 and 10) consequences of not applying evidence during COVID-19. According to the present conceptual framework, KBs act as an intermediator between the large amounts of knowledge produced and decision makers. KTE tools should be applied to enhance EIPM during COVID-19. Attention should be paid to the facilitators, barriers, benefits and necessities of evidence application during COVID-19 to avoid negative consequences for the health system.

Conclusions
Results of this study show that developing KTE tools and activating KBs can be among the main strategies to produce applied actionable messages for policymakers to move toward EIPM; and that this applies even when rapid decision making is required, such as during the COVID-19 pandemic. It is strongly recommended to reinforce the local capacities through supporting scientific networks and relationships between research centers and local and national policymakers. At the same time, attention to local barriers to and facilitators of the application of evidence while facing a pandemic can pave the way to better identification of health system`s problems and rapid responses.
Teaching radiology in Egyptian medical schools: Where do we stand and how can we start?
Authors: Badawy Mohamed , Rohren Scott , Elhatw Ahmed , Negm Ahmed S. , Ahmed Amr , Khalifa Islam , Shehata Mostafa Ahmed , ElHefnawi Yara , Saenz Florentino , Kamel Serageldin , Saad Mariam Ahmed , Fahmy Mohamed Ismael , Ghannam Sammar , Abusaif Abdelrahman , Hussein Mohamed Yasser , Elbatal Mariam , Shalaby Nada , Hammad Mahmoud F. , Elfeel Amany , Choucair Ferial , Patel Parth , Elsayes Khaled M. 
Published: January 2022

Abstract
Background
Radiology serves in the diagnosis and management of many diseases. Despite its rising importance and use, radiology is not a core component of a lot of medical school curricula. This survey aims to clarify current gaps in the radiological education in Egyptian medical schools. In February–May 2021, 5318 students enrolled in Egyptian medical schools were recruited and given a 20-multiple-choice-question survey assessing their radiology knowledge, radiograph interpretation, and encountered imaging experiences. We measured the objective parameters as a percentage. We conducted descriptive analysis and used Likert scales where values were represented as numerical values. Percentages were graphed afterwards.

Results
A total of 5318 medical students in Egypt answered our survey. Gender distribution was 45% males and 54% females. The results represented all 7 class years of medical school (six academic years and a final training year). In assessing students’ knowledge of radiology, most students (75%) reported that they received ‘too little’ education, while 20% stated the amount was ‘just right’ and only 4% reported it was ‘too much.’ Sixty-two percent of students stated they were taught radiology through medical imaging lectures. Participants’ future career plans were almost equally distributed. Near half of participants (43%) have not heard about the American College of Radiology Appropriateness Criteria (ACR-AR), while 39% have heard about it but are not familiar with.

Conclusions
Radiology is a novel underestimated field. Therefore, medical students need more imaging exposure. To accomplish this, attention and efforts should be directed toward undergraduate radiology education to dissolve the gap between radiology and other specialties during clinical practice. A survey answered by medical students can bridge between presence of any current defect in undergraduate radiology teaching and future solutions for this topic.
Revisiting Horizontal Stratification in Higher Education: College Prestige Hierarchy and Educational Assortative Mating in China
Authors: Feng Acton Jiashi 
Published: January 2022

Abstract
Existing research on assortative mating has examined marriage between people with different levels of education, yet heterogeneity in educational assortative mating outcomes of college graduates has been mostly ignored. Using data from the 2010 Chinese Family Panel Study and log-multiplicative models, this study examines the changing structure and association of husbands' and wives' educational attainment between 1980 and 2010, a period in which Chinese higher education experienced rapid expansion and stratification. Results show that the graduates of first-tier institutions are less likely than graduates of lower-ranked colleges to marry someone without a college degree. Moreover, from 1980 to 2010, female first-tier-college graduates were increasingly more likely to marry people who graduated from similarly prestigious colleges, although there is insufficient evidence to draw the same conclusion about their male counterparts. This study thus demonstrates the extent of heterogeneity in educational assortative mating patterns among college graduates and the tendency for elite college graduates to marry within the educational elite.
Preventive tract embolization with gelatin sponge slurry is safe and considerably reduces pneumothorax after CT-guided lung biopsy with use of large 16–18 coaxial needles
Authors: Grange Rémi , Sarkissian Robin , Bayle-Bleuez Sophie , Tissot Claire , Tiffet Olivier , Barral Fabrice-Guy , Flaus Anthime , Grange Sylvain 
Published: January 2022

Objective: To evaluate the clinical impact of the tract embolization technique using gelatin sponge slurry after percutaneous CT-guided lung biopsy. Methods: We retrospectively compared coaxial needle CT-guided lung biopsies performed without embolization (100 patients) and with the tract embolization technique using a mixture of iodine and gelatin sponge slurry (105 patients) between June 2012 and July 2020. Uni- and multivariate analyses were performed between groups to determine risk factors of pneumothorax. Results: Patients with gelatin sponge slurry tract embolization had statistically lower rates of pneumothorax ((17.1% vs 39%, p < 0.001). In univariate analysis, tract embolization (OR = 0.32, CI = 0.17–0.61 p<0.001) and nodule size >2 cm (OR = 0.33 CI = 0.14–0.8 p = 0.013) had a protective effect on pneumothorax. The puncture path lengths > 2–20 mm and >20 mm were risk factors for pneumothorax (OR = 3.35 IC = 1.44–8.21 p = 0.006 and OR = 4.36 CI = 1.98–10.29 p<0.001, respectively). In multivariate regression analysis, tract embolization had a protective effect of pneumothorax (OR = 0.25, CI = 0.12–0.51, p < 0.001). The puncture path lengths > 2–20 mm and >20 mm were risk factors for pneumothorax (p = 0.030 and p = 0.002, respectively). Conclusions: The tract embolization technique using iodinated gelatin sponge slurry is safe and considerably reduces pneumothorax after percutaneous CT-guided lung biopsy. Our results suggest that it could be use in clinical routine. Advances in knowledge: The systemic use of gelatin sponge slurry is safe and reduces considerably the rate of pneumothorax upon needle removal when CT-guided core biopsies are performed using large 16–18G coaxial needles.
Autonomic and endocrine accompaniments of quantitative-qualitative blood pressure clusters in patients of Truskavets’ spa
Authors: Kozyavkina Nataliya , Voronych-Semchenko Nataliya , Vovchyna Yuliya , Zukow Walery , Popovych Igor 
Published: January 2022

Background. Earlier we showed that profile patients of Truskavets’ spa are characterized by a wide range of blood pressure (BP) - from low norm to arterial hypertension III that correspond to the hemodynamics parameters. The purpose of this study is to clarify the autonomic and endocrine accompaniments of quantitative-qualitative BP clusters in the same contingent. Materials and methods. Under an observations were 44 patients with chronic pyelonephritis and cholecystitis in the phase of remission. Testing was performed twice - on admission and after 7-10 days of standard balneotherapy. The main object of the study was BP (tonometer “Omron M4-I”, Netherlands). The parameters of HRV ("CardioLab+HRV", Ukraine), plasma levels of Cortisol, Aldosterone, Testosterone, Triiodothyronine and Calcitonin (ELISA) as well as Ca-P marker of parathyroid hormone were determined. Results. In order to identify among the registered parameters, those for which the BP clusters differ from each other, a discriminant analysis was performed. The program forward stepwise included in the discriminant model 29 parameters. The most informative among them are HRV-markers of sympathetic tone and sympathetic-vagal balance as well as testosterone and cortisol, whose levels are maximal in patients with hypertension II, while minimal in patients with low norm BP, on the one hand, and markers of vagal tone and Kerdoe vegetative index, the levels of which are polar, on the other hand. The accuracy of patient classification is 98,9%. Conclusion. Autonomic and endocrine accompaniments of quantitative-qualitative blood pressure clusters corresponding to the existing ideas about the regulation of blood pressure.
Product Ranking on Online Platforms
Authors: Derakhshan Mahsa , Golrezaei Negin , Manshadi Vahideh , Mirrokni Vahab 
Published: January 2022

On online platforms, consumers face an abundance of options that are displayed in the form of a position ranking. Only products placed in the first few positions are readily accessible to the consumer, and she needs to exert effort to access more options. For such platforms, we develop a two-stage sequential search model where, in the first stage, the consumer sequentially screens positions to observe the preference weight of the products placed in them and forms a consideration set. In the second stage, she observes the additional idiosyncratic utility that she can derive from each product and chooses the highest-utility product within her consideration set. For this model, we first characterize the optimal sequential search policy of a welfare-maximizing consumer. We then study how platforms with different objectives should rank products. We focus on two objectives: (i) maximizing the platform’s market share and (ii) maximizing the consumer’s welfare. Somewhat surprisingly, we show that ranking products in decreasing order of their preference weights does not necessarily maximize market share or consumer welfare. Such a ranking may shorten the consumer’s consideration set due to the externality effect of high-positioned products on low-positioned ones, leading to insufficient screening. We then show that both problems—maximizing market share and maximizing consumer welfare—are NP-complete. We develop novel near-optimal polynomial-time ranking algorithms for each objective. Further, we show that, even though ranking products in decreasing order of their preference weights is suboptimal, such a ranking enjoys strong performance guarantees for both objectives. We complement our theoretical developments with numerical studies using synthetic data, in which we show (1) that heuristic versions of our algorithms that do not rely on model primitives perform well and (2) that our model can be effectively estimated using a maximum likelihood estimator. This paper was accepted by Gabriel Weintraub, revenue management and market analytics.
The Important Role of Time Limits When Consumers Choose Their Time in Service
Authors: Feldman Pnina , Segev Ella 
Published: January 2022

A main challenge that service providers face when managing service systems is how to generate value and regulate congestion at the same time. To this end, classical queueing models suggest managers charge per-use fees and invest in capacity to speed up the service. However, in discretionary services, in which consumers value time in service and choose how long to stay, per-use fees result in suboptimal performance and speeding up does not apply. We study a queueing model of a service provider and rational consumers who are heterogenous in their requirements for service duration. Consumers incur disutility from waiting and choose whether to join and how long to spend in service. We consider time limits as a novel mechanism that may help in controlling congestion. Time limits put a cap on the maximum time that customers can spend in service. We analyze their effectiveness when combined with two price schemes: per-use fees and price rates. Time limits are effective because they reduce time in service and impact waiting times and joining behavior. Revenue maximizing firms and social planners who maximize social welfare benefit from implementing time limits in addition to price rates. Social planners who seek to maximize consumer welfare, however, focus on regulating congestion and should, therefore, offer the service for free but implement time limits if congestion levels are high. The attractiveness of time limits goes further. We show that time limits are not only a useful lever that works well when combined with simple price mechanisms, but they are in fact optimal when congestion is high. Service providers can achieve the first-best outcome and extract all customer surplus by coupling a time limit with an optimal price mechanism. The attractiveness of time limits stems from their ability to reduce not only the average time spent in service, but also its variance. This is highly effective in settings in which customers’ service times impose externalities on others’ waiting times. Thus, we conclude that providers of discretionary services should set time limits when congestion is an issue. This paper was accepted by Vishal Gaur, operations management.
Development of the simulation-based German albuminuria screening model (S-GASM) for estimating the cost-effectiveness of albuminuria screening in Germany
Authors: Kairys Paul , Frese Thomas , Voigt Paul , Horn Johannes , Girndt Matthias , Mikolajczyk Rafael 
Published: January 2022

Background
Chronic kidney disease is often asymptomatic in its early stages but constitutes a severe burden for patients and causes major healthcare systems costs worldwide. While models for assessing the cost-effectiveness of screening were proposed in the past, they often presented only a limited view. This study aimed to develop a simulation-based German Albuminuria Screening Model (S-GASM) and present some initial applications.

Methods
The model consists of an individual-based simulation of disease progression, considering age, gender, body mass index, systolic blood pressure, diabetes, albuminuria, glomerular filtration rate, and quality of life, furthermore, costs of testing, therapy, and renal replacement therapy with parameters based on published evidence. Selected screening scenarios were compared in a cost-effectiveness analysis.

Results
Compared to no testing, a simulation of 10 million individuals with a current age distribution of the adult German population and a follow-up until death or the age of 90 shows that a testing of all individuals with diabetes every two years leads to a reduction of the lifetime prevalence of renal replacement therapy from 2.5% to 2.3%. The undiscounted costs of this intervention would be 1164.10 € / QALY (quality-adjusted life year). Considering saved costs for renal replacement therapy, the overall undiscounted costs would be—12581.95 € / QALY. Testing all individuals with diabetes or hypertension and screening the general population reduced the lifetime prevalence even further (to 2.2% and 1.8%, respectively). Both scenarios were cost-saving (undiscounted, - 7127.10 €/QALY and—5439.23 €/QALY).

Conclusions
The S-GASM can be used for the comparison of various albuminuria testing strategies. The exemplary analysis demonstrates cost savings through albuminuria testing for individuals with diabetes, diabetes or hypertension, and for population-wide screening.
Improved biomechanics in experimental chronic rotator cuff repair after shockwaves is not reflected by bone microarchitecture
Authors: Feichtinger Xaver , Heimel Patrick , Tangl Stefan , Keibl Claudia , Nürnberger Sylvia , Schanda Jakob Emanuel , Hercher David , Kocijan Roland , Redl Heinz , Grillari Johannes , Fialka Christian , Mittermayr Rainer 
Published: January 2022

Purpose
The aim of this study was to investigate the effect of extracorporeal shockwave therapy (ESWT) on bone microstructure as well as the bone-tendon-interface and the musculo-tendinous transition zone to explain the previously shown improved biomechanics in a degenerative rotator cuff tear animal model. This study hypothesized that biomechanical improvements related to ESWT are a result of improved bone microstructure and muscle tendon properties.

Methods
In this controlled laboratory study unilateral supraspinatus (SSP) tendon detachment was performed in 48 male Sprague-Dawley rats. After a degeneration period of three weeks, SSP tendon was reconstructed transosseously. Rats were randomly assigned into three groups (n = 16 per group): control (noSW); intraoperative shockwave treatment (IntraSW); intra- and postoperative shockwave treatment (IntraPostSW). Eight weeks after SSP repair, all rats were sacrificed and underwent bone microstructure analysis as well as histological and immunohistochemical analyses.

Results
With exception of cortical porosity at the tendon area, bone microstructure analyses revealed no significant differences between the three study groups regarding cortical and trabecular bone parameters. Cortical Porosity at the Tendon Area was lowest in the IntraPostSW (p≤0.05) group. Histological analyses showed well-regenerated muscle and tendon structures in all groups. Immunohistochemistry detected augmented angiogenesis at the musculo-tendinous transition zone in both shockwave groups indicated by CD31 positive stained blood vessels.

Conclusion
In conclusion, bone microarchitecture changes are not responsible for previously described improved biomechanical results after shockwave treatment in rotator cuff repair in rodents. Immunohistochemical analysis showed neovascularization at the musculo-tendinous transition zone within ESWT-treated animals. Further studies focusing on neovascularization at the musculo-tendinous transition zone are necessary to explain the enhanced biomechanical and functional properties observed previously.

Clinical relevance
In patients treated with a double-row SSP tendon repair, an improvement in healing through ESWT, especially in this area, could prevent a failure of the medial row, which is considered a constantly observed tear pattern.
Evaluation of nocturnal vs. morning measures of heart rate indices in young athletes
Authors: Mishica Christina , Kyröläinen Heikki , Hynynen Esa , Nummela Ari , Holmberg Hans-Christer , Linnamo Vesa 
Published: January 2022

Purpose
The purpose of this study was to compare heart rate (HR) and heart rate variability in young endurance athletes during nocturnal sleep and in the morning; and to assess whether changes in these values are associated with changes in submaximal running (SRT) and counter-movement jump (CMJ) performance.

Methods
During a three-week period of similar training, eleven athletes (16 ± 1 years) determined daily HR and heart rate variability (RMSSD) during sleep utilizing a ballistocardiographic device (Emfit QS), as well as in the morning with a HR monitor (Polar V800). Aerobic fitness and power production were assessed employing SRT and CMJ test.

Results
Comparison of the average values for week 1 and week 3 revealed no significant differences with respect to nocturnal RMSSD (6.8%, P = 0.344), morning RMSSD (13.4%, P = 0.151), morning HR (-3.9 bpm, P = 0.063), SRT HR (-0.7 bpm, P = 0.447), SRT blood lactate (4.9%, P = 0.781), CMJ (-4.2%, P = 0.122) or training volume (16%, P = 0.499). There was a strong correlation between morning and nocturnal HRs during week 1 (r = 0.800, P = 0.003) and week 3 (r = 0.815, P = 0.002), as well as between morning and nocturnal RMSSD values (for week 1, r = 0.895, P<0.001 and week 3, r = 0.878, P = 0.001).

Conclusion
This study concluded that HR and RMSSD obtained during nocturnal sleep and in the morning did not differ significantly. In addition, weekly changes in training and performance were small indicating that fitness was similar throughout the 3-week period of observation. Consequently, daily measurement of HR indices during nocturnal sleep provide a potential tool for long-term monitoring of young endurance athletes.