bluuebunny/crossref_metadata_2025 huggingface dataset:
Heavy metal pollution in Manzala Lake sediments, Egypt: sources, variability, and assessment
Authors: Redwan Mostafa , Elhaddad Engy
Published: May 2022

The environmental pollution of lake systems due to anthropogenic factors is of growing concern worldwide. Manzala Lake is the largest northern coastal-deltaic lakes of Egypt and has socioeconomic impacts. In this study, the concentrations and origins of seven heavy metals (HMs) and the organic content in the Manzala Lake sediments were explored during the winter and summer. The concentration of the HMs and the organic content were quantified using inductively coupled plasma and loss-on-ignition techniques. Pearson’s correlation coefficient (PCC) and principal component analysis (PCA) were applied to evaluate the sources of the metals in the sediments. The HMs and organic matter were enriched during the winter season. The average concentrations of the HMs in the sediments conformed to the following sequence: Fe (14.13) > Mn (0.8) > Cu (0.11) > Zn (0.11) > Ni (0.06) > Pb (0.5) > Cd (0.002) (mg/kg). Sediment quality protocols showed that Mn, Cd, Cu, and Ni pose a significant threat to the aquatic environment in Manzala Lake. The geoaccumulation index (Igeo) values indicated pollution of the sediments with most metals, excluding Fe and Ni. The periodic mean Igeo pollution level followed the sequence Cd > Cu > Zn > Mn > Pb > Ni > Fe. The greatest pollution load index noted during the winter season was principally induced by Cd and Cu. The overall ecological risk index was moderate, with Cd being the most prominent HM. PCA combined with PCC showed that the HM enrichments in the southern (Bahr Al-Baqar Drain [S1], Bashteer [S3], Legan [S5], and Al-Ginka [S8]) and the extreme northeastern (El-Qapouti [S6]) parts of Manzala Lake sediments were mainly due to the discharge from different drains (industrial, agricultural, and municipal wastes) and the industrial region in Port Said, respectively. The lower HM concentrations from the extreme northern parts (Al-Boghaz [S2], Al-Temsah [S4], Al-Hamra [S7], and Al-Kowar [S9]) were due to their isolation from urban areas compared with the other localities. Extensive waste disposal was responsible for the HM pollution in the Manzala Lake sediments. Advanced treatment technologies and monitoring of the pollution in the water and sediments of Manzala Lake are required to decrease the accumulation of the heavy metals.
Using log analytics and process mining to enable self-healing in the Internet of Things
Authors: Singh Prasannjeet , Saman Azari Mehdi , Vitale Francesco , Flammini Francesco , Mazzocca Nicola , Caporuscio Mauro , Thornadtsson Johan
Published: May 2022

The Internet of Things (IoT) is rapidly developing in diverse and critical applications such as environmental sensing and industrial control systems. IoT devices can be very heterogeneous in terms of hardware and software architectures, communication protocols, and/or manufacturers. Therefore, when those devices are connected together to build a complex system, detecting and fixing any anomalies can be very challenging. In this paper, we explore a relatively novel technique known as Process Mining, which—in combination with log-file analytics and machine learning—can support early diagnosis, prognosis, and subsequent automated repair to improve the resilience of IoT devices within possibly complex cyber-physical systems. Issues addressed in this paper include generation of consistent Event Logs and definition of a roadmap toward effective Process Discovery and Conformance Checking to support Self-Healing in IoT.
An Adaptable and Scalable Generator of Distributed Massive MIMO Baseband Processing Systems
Authors: Dai Yue , Rasekh Maryam Eslami , Mirfarshbafan Seyed Hadi , Liew Harrison , Gallyas-Sanhueza Alexandra , Dunn James , Madhow Upamanyu , Studer Christoph , Nikolić Borivoje
Published: May 2022

This paper presents an algorithm-adaptable, scalable, and platform-portable generator for massive multiple-input multiple-output (MIMO) baseband processing systems. This generator is written in Chisel hardware construction language, and produces instances that implement distributed massive MIMO base station (BS) processing, including channel estimation and beamforming. The generator can be reused for different MIMO systems and hardware datapath designs by changing the parameters. The generator is paired with a Python-based system simulator, which incorporated together can emulate a system testing various baseband signal processing algorithms. The field programmable gate array (FPGA) emulation is performed with generated instances using various parameter values. To demonstrate the algorithmic adaptability, a Golay-sequence-based channel estimation method, a beamspace calibration method, and a channel denoising algorithm are evaluated across a range of channel models. The performance of the generator, necessity of the algorithmic adaptability, and ease of hardware generation are evaluated and discussed. The emulated register-transfer level (RTL) implementation with different system parameters shows that with beamspace methods, the demodulation error vector magnitude is improved by up to 29.8%.
Plattformen auf dem Arbeitsmarkt: Digitalisierung und Diversifizierung in der Beschäftigungsindustrie
Authors: Pongratz Hans J.
Published: May 2022

Vermittlungsprozesse auf dem Arbeitsmarkt verlaufen zunehmend unter Mitwirkung von Plattformunternehmen: Online-Stellenbörsen, Karrierenetzwerken, Gigwork- und Crowdworking-Plattformen oder Arbeitgeberbewertungsportalen. Auf der Basis explorativer Internetrecherchen und Dokumentanalysen wird ein Überblick über die Plattformmodelle und ihre Verbindungen zu etablierten Akteuren der Beschäftigungsindustrie, vor allem Zeitarbeitsfirmen und Personalberatungen, gegeben. Mit Bezug auf Theoriekonzepte der Plattformforschung und der Arbeitsmarktanalyse (Infrastruktur, Intermediarität, Ökosystem, Feld) werden Thesen zur Rolle der Plattformen innerhalb der Beschäftigungsindustrie formuliert. In Anbetracht etablierter Strukturen und spezifischer Anforderungen des Arbeitsmarkts finden sich Plattformen in diesem Feld in komplexen Akteurskonstellationen wieder, die sie nicht in der Weise dominieren, wie das von Plattformkonzernen wie Amazon, Facebook oder Google angenommen wird. Privatwirtschaftliche Dienstleistungen der Arbeitskraftvermittlung gewinnen erheblich an Relevanz: Neben der Verfügung über die Daten stellen vor allem das Expertenwissen der Personalberatungen und der politische Einfluss der Zeitarbeitsfirmen maßgebliche Machtressourcen am Markt dar. Die Analyse lässt auf multiple Entwicklungspfade der Plattformökonomie schließen – und auf die Notwendigkeit stärker vergleichender Forschung.
Obstruktive Schlafapnoe und arterielle Hypertonie
Authors: Zagorski Tabea , Arzt Michael , Stadler Stefan
Published: May 2022

Hintergrund

In Deutschland leiden rund 19 Mio. Patienten an einer diagnostizierten arteriellen Hypertonie (aHT). Die Schnittmenge zwischen Menschen mit aHT und obstruktiver Schlafapnoe (OSA) ist groß. Aufwachreaktionen und Hypoxämie im Rahmen einer OSA können zu einem gesteigerten Sympathikotonus und endothelialer Dysfunktion und somit zu aHT führen.

Fragestellung

Der vorliegende Übersichtsartikel soll die Zusammenhänge zwischen OSA und aHT sowie Behandlungsmöglichkeiten darstellen.

Materialien und Methoden

Es erfolgte eine Literaturrecherche von Original- und Übersichtsartikeln, die bis 2021 in der PubMed-Datenbank veröffentlicht wurden.

Ergebnisse

Obstruktive Schlafapnoe kann sowohl die Entstehung als auch die Verschlechterung einer aHT verursachen. Betroffene profitieren von einer CPAP-Behandlung mit einer durchschnittlichen Senkung des systolischen Blutdrucks um −4,4 mm Hg sowie des diastolischen Blutdrucks um −2,9 mm Hg. Prädiktoren für eine Reduktion des Blutdrucks unter kontinuierlicher Positivdrucktherapie (CPAP) sind junges Alter, therapieresistente aHT, schwere OSA-bedingte Sauerstoffentsättigungen und ein „Non-Dipping-Blutdruckmuster“.

Schlussfolgerung

Die adäquate Behandlung einer aHT fordert häufig einen multimodalen Ansatz. Neben einer medikamentösen antihypertensiven Therapie und einer Modifikation des Lebensstils sollte auch die Diagnose und gegebenenfalls die Behandlung einer OSA berücksichtigt werden.
A review of Ghana’s planting for food and jobs program: implementation, impacts, benefits, and costs
Authors: Pauw Karl
Published: May 2022

Farm input subsidies are widely used in Sub-Saharan African countries as a response to low adoption of fertilizers and seeds. While subsidy programs traditionally focused on helping farmers access inputs, new generation market smart subsidies additionally emphasize careful targeting, development of input supply systems, and complementary production and marketing support mechanisms. Ghana’s Planting for Food and Jobs (PFJ) initiative, launched in 2017, is one example of such an evolved subsidy program; yet, despite its scale and prominence, the current government monitoring and evaluation system is not well equipped to accurately assess its impacts. This paper triangulates evidence from multiple public sources and independent evaluations to develop a simple and effective impact assessment model for PFJ that can easily be adopted by the government. It can also be adapted to other contexts with minimal adjustment. Model results reveal that maize and rice production levels are more than 40 percent higher than they would have been in the absence of PFJ, thus contributing significantly to food and calorie availability in Ghana. However, there is much room for efficiency improvements that would increase the return on investment-currently, program benefits roughly equal public and private costs of the program. In this regard, several recommendations are made relating to beneficiary targeting, crowding out of commercial input sales, input use efficiency, marketing support to farmers, and improvements in the monitoring and evaluation system, all of which have relevance for other countries implementing or considering similar programs.
Mathematics Students’ Characteristics of Basic Mental Models of the Derivative
Authors: Greefrath Gilbert , Oldenburg Reinhard , Siller Hans-Stefan , Ulm Volker , Weigand Hans-Georg
Published: May 2022

The concept of derivative is characterised with reference to four basic mental models. These are described as theoretical constructs based on theoretical considerations. The four basic mental models—local rate of change, tangent slope, local linearity and amplification factor—are not only quantified empirically but are also validated. To this end, a test instrument for measuring students’ characteristics of basic mental models is presented and analysed regarding quality criteria.

Mathematics students (n = 266) were tested with this instrument. The test results show that the four basic mental models of the derivative can be reconstructed among the students with different characteristics. The tangent slope has the highest agreement values across all tasks. The agreement on explanations based on the basic mental model of rate of change is not as strongly established among students as one would expect due to framework settings in the school system by means of curricula and educational standards. The basic mental model of local linearity plays a rather subordinate role. The amplification factor achieves the lowest agreement values. In addition, cluster analysis was conducted to identify different subgroups of the student population. Moreover, the test results can be attributed to characteristics of the task types as well as to the students’ previous experiences from mathematics classes by means of qualitative interpretation. These and other results of students’ basic mental models of the derivative are presented and discussed in detail.
Attractor Reconstruction for Quantifying the Arterial Pulse Wave Morphology During Device-Guided Slow Breathing
Authors: Hörandtner Carina , Bachler Martin , Sehnert Walter , Mikisek Ines , Mengden Thomas , Wassertheurer Siegfried , Mayer Christopher C.
Published: May 2022

Attractor reconstruction is a new way to quantify the morphology of a cardiovascular waveform by plotting all data points in the three-dimensional phase space, generating a trajectory of overlapping loops. The aim of this study is to show the feasibility of an automatic approach to quantify pulse wave attractors from a device-guided breathing study, and to link attractor features to pulse waveform features. The recently developed feature extraction technique is applied to arterial pulse waveform data of 30 patients with treated hypertension. The patients performed a device-guided slow breathing exercise. The generated attractors were categorized into three different shapes: triangular attractors, bent attractors and attractors with overlapping arms. The average height of the attractors continuously and progressively dropped from 41.8 [35.4, 55.1] AU to 34.5 [25.4, 47.3] AU (p < 0.001) during the breathing exercise. We have shown that the novel approach to quantify pulse wave attractors is feasible and can be used to detect changes in the morphology of arterial pulse waveforms. Device-guided slow breathing exercise has a shrinking effect on the average height of the attractors, which may indicate a reduction in blood pressure.
Extracellular polysaccharides purified (Polycan) from Aureobasidium pullulans SM‑2001 improves pathophysiology of dystrophin-deficient mdx mice
Authors: Kim Young-Suk , Lim Jong-Min , Shin Jae Suk , Kim Hyun Jun , Park Kwang-Il , Oh Tae Woo
Published: May 2022

Background

Duchenne muscular dystrophy is a hereditary muscular disease involving degeneration (i.e. atrophy and loss of muscle fibres) of skeletal muscles, including the diaphragm, and progressively severe functional decline. A previous study shows Polycan, a type of β-glucan derived from the black yeast Aureobasidium pullulans (SM-2001), promotes osteogenicity and bone loss, and possesses anti-inflammatory activity to induce inflammatory cytokines in human immune and cancer cells.

Objective

In this study, we evaluated changes in exercise load behaviour measurements and changes in muscle-related physiological indicators following oral administration of Polycan in mdx mice, an experimental animal model of Duchenne muscular dystrophy.

Result

In mdx mice, Polycan prevented weight loss and thickness of skeletal muscle. In addition, by monitoring increases in running time of mice on treadmills and performing a grip strength test, we confirmed reduced muscle function was recovered to some extent after administering Polycan to mdx mice. In addition, we confirmed that Polycan significantly altered mRNA expression in a concentration-dependent manner, whereby myogenic transcription factors (MyoD, Myf5 and Myogenin) increased and FoxO3α, MuRF1 and Atrogin-1 decreased. We aimed to investigate the mechanism of action in Polycan on energy metabolism of p-AMPK, SIRT1 and PGC1α with apoptosis expression levels as factors related to signalling pathways. Expression ratios of cleaved-caspase-3/caspase-3 and Bax/Bcl-2 in the Polycan extract-administered group increased compared with the control group.

Conclusion

These results demonstrate that Polycan can improve and protect muscle atrophy by preventing apoptosis via pathway regulation related to myogenic transcription factors and energy metabolism in mdx mice.
Phenotypes of prediabetes and metabolic risk in Caucasian youths with overweight or obesity
Authors: Di Bonito P. , Licenziati M. R. , Corica D. , Wasniewska M. G. , Di Sessa A. , del Giudice E. Miraglia , Morandi A. , Maffeis C. , Faienza M. F. , Mozzillo E. , Calcaterra V. , Franco F. , Maltoni G. , Valerio G.
Published: May 2022

Purpose

To assess the prevalence of pre-diabetes phenotypes, i.e., impaired fasting glucose (IFG), impaired glucose tolerance (IGT), increased HbA1c (IA1c), and their association with metabolic profile and atherogenic lipid profile in youths with overweight/obesity (OW/OB).

Methods

This cross-sectional study analyzed data of 1549 youths (5–18 years) with OW/OB followed in nine Italian centers between 2016 and 2020. Fasting and post-load measurements of glucose, insulin, and HbA1c were available. Insulin resistance (IR) was estimated by HOMA-IR and insulin sensitivity (IS) by reciprocal of fasting insulin. The atherogenic lipid profile was assessed by triglycerides-to-HDL ratio or cholesterol-to-HDL ratio. Insulinogenic index was available in 939 youths, in whom the disposition index was calculated.

Results

The prevalence of overall pre-diabetes, IFG, IGT and IA1c was 27.6%, 10.2%, 8% and 16.3%, respectively. Analyzing each isolated phenotype, IGT exhibited two- to three-fold higher odds ratio of family history of diabetes, and worse metabolic and atherogenic lipid profile vs normoglycemic youths; IFG was associated only with IR, while IA1c showed a metabolic and atherogenic lipid profile intermediate between IGT and IFG.

Conclusion

Prevalence of pre-diabetes was high and IA1c was the most prevalent phenotype in Italian youths with OW/OB. The IGT phenotype showed the worst metabolic and atherogenic lipid profile, followed by IA1c. More studies are needed to assess whether HbA1c may help improving the prediction of diabetes.
The emergence of temporality in attitudes towards cryo-fertility: a case study comparing German and Israeli social egg freezing users
Authors: Rimon-Zarfaty Nitzan , Schicktanz Silke
Published: May 2022

Assistive reproductive technologies are increasingly used to control the biology of fertility and its temporality. Combining historical, theoretical, and socio-empirical insights, this paper aims at expanding our understanding of the way temporality emerges and is negotiated in the contemporary practice of cryopreservation of reproductive materials. We first present an historical overview of the practice of cryo-fertility to indicate the co-production of technology and social constructions of temporality. We then apply a theoretical framework for analysing cryobiology and cryopreservation technologies as creating a new epistemic perspective interconnecting biology and temporality. Thereafter, we focus on the case of ‘social egg freezing’ (SEF) to present socio-empirical findings illustrating different reproductive temporalities and their connection to the social acceptance of and expectations towards the practice. SEF is a particularly interesting case as it aims to enable women to disconnect their reproductive potential from their biological rhythms. Based on 39 open interviews with Israeli and German SEF users, the cross-cultural comparative findings reveal three types of attitudes: postponing motherhood/reproductive decisions (German users); singlehood and “waiting” for a partner (Israeli and German users); and the planning of and hope for multiple children (Israeli users). For theory building, this analysis uncovers temporality formations embedded in gender and reproductive moral values; including the ‘extended present’, ‘waiting’, and ‘reproductive futurism’. We conclude by discussing the contribution of our findings by advancing the theoretical framework of ‘cryopolitics’ highlighting the theoretical implications and importance of gendered and cultural imaginaries (re)constructing medical technological innovations and related temporalities.
Häufigkeit von Schlafproblemen bei Intensivpflegenden: Eine Post-hoc-Analyse einer Querschnittstudie
Authors: Möckel Luis , Hönl Ann-Kathrin , Gräfe Samantha , Jantz Florian , Werner Natalie S.
Published: May 2022

Hintergrund

Intensivpflegende haben durch den Schichtdienst unregelmäßige und ungewöhnliche Arbeitszeiten, welche den natürlichen Hell-Dunkel-Rhythmus stören und somit ein Risiko für Schlafstörungen darstellen können.

Ziele der Arbeit

Ziel dieser Post-hoc-Analyse war es, die Prävalenz selbstberichteter Schlafprobleme sowie damit assoziierte Faktoren bei in Deutschland tätigen Intensivpflegenden zu untersuchen.

Methoden

Hierbei handelte es sich um eine Post-hoc-Analyse der Daten einer Querschnittstudie, welche als Online-Befragung durchgeführt wurde. Es wurden soziodemografische, arbeitsbezogene sowie gesundheitsbezogene Daten erhoben. Mithilfe der Daten wurden die Prävalenz und das dazugehörige 95 %-Konfidenzintervall (95 %-KI) von Schlafproblemen berechnet sowie mittels Chi2-Tests, Fisher’s Exact Tests und logistischer Regression Faktoren identifiziert, welche mit diesen assoziiert waren.

Ergebnisse

Der Befragungslink wurde insgesamt 1163-mal angeklickt, und 490 nahmen an der Befragung teil. In die finale Analyse eingeschlossen wurden 432 Intensivpflegende, von denen 82,87 % Frauen waren. Insgesamt berichteten 57,64 % (95 %-KI: 52,83 %; 62,35 %) von Schlafproblemen. Signifikant mit Schlafproblemen assoziiert waren unter anderem das Alter (50 bis 59 Jahre Odds Ratio [OR]: 2,05 [95 %-KI: 1,00; 4,21], p = 0,047 vs. 20 bis 29 Jahre) sowie das Leben in einer Familie (OR: 0,50 [95 %-KI: 0,27; 0,93], p = 0,029 vs. Single/alleinlebend). Außerdem waren das Depressions- (OR: 1,09 [95 %-KI: 1,06; 1,12], p ≤ 0,001), Angst- (OR: 1,10 [95 %-KI: 1,06; 1,14], p ≤ 0,001) und Stresslevel (OR: 1,09 [95 %-KI: 1,06; 1,12], p ≤ 0,001) signifikant mit Schlafproblemen assoziiert.

Schlussfolgerung

Schlafprobleme lagen bei jeder zweiten teilnehmenden Intensivpflegekraft vor, und insbesondere die mentale Gesundheit war mit Schlafproblemen assoziiert.
Indigenous cultural considerations during disclosures of child abuse
Authors: Ettinger Tara
Published: May 2022

What are cultural considerations for Indigenous children involved within the Canadian child welfare system and what challenges do they pose during disclosures of abuse within child abuse investigations? A literature search was used to find resources relevant to the research question; this was obtained through Google Scholar and the University of British Columbia (UBC) library. A review of the literature was summarized to reveal themes regarding cultural considerations for Indigenous children during disclosures of abuse. Culture is a very deeply rooted phenomenon with multiple layers. We know from research that culture is a factor that can have an influence on children’s disclosures of abuse during investigations. Involved professionals who work with children from a different culture than their own, need to ensure culturally aware and safe practices. Especially when cultures have traumatic histories, such as with Indigenous Peoples in Canada.But what does this really mean during investigations of child abuse? And how does one know if a culturally safe practice is being achieved?The Eurocentric origins of the Canadian child welfare system needs to be acknowledged in order to understand how it continues to be visible in practice today. Even though Canadian provinces have recognized the need for reconciliation and culturally safe practices with Indigenous communities, literature is still lacking on specific knowledge about Indigenous children’s needs and safe approaches during their disclosures of abuse within investigations. Directly involving Indigenous communities to understand specific cultural factors and collaboration with multidisciplinary work within Child Advocacy Centres is a step in the right direction and another step toward reconciliation. It may hold the key to creating an understanding for what Indigenous children need during disclosures of abuse.
Role of CCUS in carbon neutral power system
Authors: Zheng Yawen , Gao Lin , Dong Rui , He Song
Published: May 2022

Achieving carbon neutrality by 2060 is an ambitious goal to promote the green transition of economy and society in China. Highly relying on coal and contributing nearly half of CO2 emission, power industry is the key area for reaching carbon-neutral goal. On basis of carbon balance, a criterial equation of carbon neutral for power system is provided. By means of the equation, the different effects of three technical approaches to achieve carbon neutrality, including energy efficiency improvement, shifting energy structure and CO2 capture, utilization and storage (CCUS) technology, had been evaluated. The results indicate that building a carbon-neutral power system requires comprehensive coordination between energy efficiency, renewable energy and CCUS technology. In particular, the unique role of CCUS in achieving carbon neutral target was investigated. For any power systems with fossil energy input, CCUS and negative emission technologies is indispensable to reach carbon neutrality. However, rather high energy consumption and costs is the critical gas deterring the large scale deployment of CCUS. Considering the specific conditions of China’s power industry, before the time window between 2030 and 2040 being closed, CCUS would either be ready for large scale deployment by reducing energy consumption and costs, or be phased out along with the most coal power plants. Conclusively, carbon neutral scenario will give CCUS the last chance to decarbonize the fossil fuel, which has great significance for China.
Formal leadership training among orthopaedic surgeons in leadership positions
Authors: Huang Carrie , Kale Nisha N. , Samora Julie B. , Mulcahey Mary K.
Published: May 2022

Purpose

To determine what formal leadership training orthopaedic leaders had pursued to develop the leadership skills necessary to be in their current leadership roles, and what perceptions they have on including formal leadership training in medical education.

Methods

An anonymous survey was distributed via email to 255 orthopaedic surgeons in leadership positions. Statistical analysis focused on differences in leadership training between different demographic groups, their formal leadership experience, and perception about the importance of formal leadership training.

Results

The survey was distributed to 247 potential recipients, of which 76 responded (response rate = 30.8%). Sixty-five of 76 (85.5%) current orthopaedic surgeons in leadership positions have received formal leadership training. The three most common types of leadership training included: institutional leadership training (n = 36; 54.5%); AOA Kellogg Leadership Series (n = 25; 37.9%); and AOA Emerging Leaders Program (n = 13; 19.7%). 77% of respondents agreed that this training helped prepare them to become a more effective leader. 79.7% of respondents agreed that formal leadership training should be incorporated, with the majority (50.8%), indicating that they believed it should be included during medical school, orthopaedic residency, and fellowship.

Conclusion

The majority of orthopaedic surgeons in leadership positions have received formal leadership training and believe that this helped them become a more effective leader. Providing formal leadership opportunities for a more diverse set of surgeons could catalyze an increase in minority representation. Informal leadership training, such as mentoring throughout medical school and residency, could also be beneficial, especially for minorities.
A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development
Authors: Cocchetti Carlotta , Baldinotti Fulvia , Romani Alessia , Ristori Jiska , Mazzoli Francesca , Vignozzi Linda , Maggi Mario , Fisher Alessandra Daphne
Published: May 2022

Introduction

Deficiency of the 17β-hydroxysteroid dehydrogenase type 3 (17 β-HSD3) is a rare autosomal recessive 46,XY Difference of sex development (DSD), resulting from pathogenetic variants in the HSD17B3 gene, which lead to absent or reduced ability to convert Δ4-androstenedione to testosterone in the fetal testes.

Aim

This study aimed to present the clinical and genetic characteristics of an Italian patient receiving a diagnosis of 17 β-HSD3 deficiency in adulthood. The patient was raised as female and underwent early surgical interventions to correct virilized genitalia, leading to a significant sexual distress.

Methods

At the time of the referral, a 20-gene Next Generation Sequencing custom-panel for DSD was performed on patient's genomic DNA.

Results

A novel compound heterozygous mutation in HSD17B3 gene was identified, detecting a new variant (c.257_265delAGGCCATTG, p.)

Conclusion

Novel genotype causing 17 β-HSD3 deficiency is presented. Furthermore, the patient's clinical history stresses the importance to actively involve these individuals in the decision-making process avoiding surgical intervention when the patient is not able to give fully informed consent.
Public Policy and Universities
Authors: Gunn Andrew , Mintrom Michael
Published: May 2022

Higher education is undergoing unprecedented transformation. In the global knowledge economy universities are of paramount importance to governments worldwide. This creates a strong rationale for an element exploring how the interactions between universities and the state are being reconfigured, while highlighting the role policy analysis can play in explaining these dynamics. Specifically, this element draws on four theoretical approaches – New-Institutionalism, the Advocacy Coalition Framework, the Narrative Policy Framework, and Policy Diffusion and Transfer – to inform the analysis. Examples are drawn from a range of countries and areas of potential research informed by policy theory are identified. This element features a section dedicated to each of the three main missions of the university followed by an analysis of the institution as a whole. This reveals how universities, while typically seeking greater autonomy, remain subject to a multifaceted form of nation state oversight as they continue to globalise in an uncertain world.
Coupled electrohydrodynamic transport in rough fractures: a generalized lubrication theory
Authors: Dewangan Mainendra Kumar , Ghosh Uddipta , Le Borgne Tanguy , Méheust Yves
Published: May 2022

Fractures provide pathways for fluids and solutes through crystalline rocks and low permeability materials, thus playing a key role in many subsurface processes and applications. In small aperture fractures, solute transport is strongly impacted by the coupling of electrical double layers at mineral–fluid interfaces to bulk ion transport. Yet, most models of flow and transport in fractures ignore these effects. Solving such coupled electrohydrodynamics in realistic three-dimensional (3-D) fracture geometries poses computational challenges which have so far limited our understanding of those electro-osmotic effects’ impact. Starting from the Poisson–Nernst–Planck–Navier–Stokes (PNPNS) equations and using a combination of rescaling, asymptotic analysis and the Leibniz rule, we derive a set of nonlinearly coupled conservation equations for the local fluxes of fluid mass, solute mass and electrical charges. Their solution yields the fluid pressure, solute concentration and electrical potential fields. The model is validated by comparing its predictions to the solutions of the PNPNS equations in 3-D rough fractures. Application of the model to realistic rough fracture geometries evidences several phenomena hitherto not reported in the literature, including: (i) a dependence of the permeability and electrical conductivity on the fracture walls’ charge density, (ii) local (sometimes global) flow reversal, and (iii) spatial heterogeneities in the concentration field without any imposed concentration gradient. This new theoretical framework will allow systematically addressing large statistics of fracture geometry realizations of given stochastic parameters, to infer the impact of the geometry and various hydrodynamic and electrical parameters on the coupled transport of fluid and ions in rough fractures.
A retrospective on claims regarding clinical mastitis in the subsequent lactation, after use of an internal teat sealant in the dry period
Authors: Hillerton J Eric , Berry Elizabeth A
Published: May 2022

Infusion of an internal teat sealant into the mammary gland of the dairy cow at drying off has been claimed to reduce the incidence of clinical mastitis over many months in the subsequent lactation, despite the absence of any ingredient of the sealant remaining for that long. However, these claims have been poorly substantiated, often by lack of identification on when the infection occurred in the period from calving to disease, if the infection was present at post calving sampling and if the pathogen causing the disease was that causing an earlier infection. Moreover, no hypothesis on how any effect on clinical mastitis might occur has been advanced in any of the publications claiming the effect. That the effect might occur is only reported in a minority of publications, and the possibility that this is relatively specific to Gram-negative pathogens is reviewed.
Improper handling of vomitus as a risk factor in the human norovirus outbreak in a kindergarten in Wuyi County, Zhejiang Province, China
Authors: Sun Wanwan , Pang Zhifeng , He Yuanyuan , Chen Yijuan , Pan Jinren , Gao Jian , Miao Ziping
Published: May 2022

This study investigated an outbreak in a kindergarten in Wuyi County of acute gastroenteritis concerning a large number of students and teachers. We performed a case-control study, and collected information on the layout of the school, symptoms, onset time of all cases and vomiting sites. A total of 62 individuals fit the definition of probable cases; among these, there were 19 cases of laboratory-confirmed norovirus infection. Nausea and vomiting were the most common symptoms in the outbreak. Seven student norovirus patients vomited in the school. The odds ratio (OR) of norovirus illness was 15.75 times higher among teachers who handled or interacted with student vomitus without respiratory protection than compared to those without this type of exposure (OR 15.75, 95% CI 1.75–141.40). Nine samples were successfully genotyped; eight samples were norovirus GII.2[P16], one sample was norovirus GII.4 Sydney[P16]. This study revealed that improper handling of vomitus is a risk factor of norovirus infection. Therefore, more attention should be given to train school staff in knowledge of disinfection.
A Polish Invention or a Copy of the Soviet Model? Electoral Practices during Parliamentary Elections in Poland under the Communist Rule (1944–1980)
Authors: Siedziako Michał
Published: May 2022

One of the main characteristics of the Soviet domination sphere in Europe after the Second World War was the unification of political systems of the countries within the Soviet Union. This paper examines the Soviet impact on the electoral system of the People's Republic of Poland, a country often considered to have been the most unique among the Eastern European states. This article argues that although there were some important differences between the electoral codes in the USSR and communist-led Poland, the effects of the elections in both countries were the same: popular voting could not pose any threat to the power of their communist parties. This resulted from practices – similar in both countries – not included in the electoral law. This leads to the conclusion that the differences between the elections in the Soviet Union and post-war Poland were rather illusory.
Arrhythmogenic right ventricular cardiomyopathy presenting as heart failure in a child
Authors: Truong Terence , Herron Christopher , Lawrence David , Galas James
Published: May 2022

Arrhythmogenic right ventricular cardiomyopathy is an uncommon diagnosis in the paediatric population, most commonly presenting with arrhythmia. We report an 11-year-old male presenting with right heart failure due to biventricular systolic dysfunction found to have arrhythmogenic right ventricular cardiomyopathy with de novo Desmin and MYH7 mutations.
Phenotypic characterization of Amaro coffee (Coffea arabica L.) local accessions using multi-variate techniques at Awada, Southern Ethiopia
Authors: Alemayehu Desalegn , Garedew Weyessa , Tesfaye Abebe Abush
Published: May 2022

As a country of origin of coffee, Ethiopia is endowed with an immense diversity of the crop in its diverse coffee-growing agro-ecologies. Amaro Kelo is one of the major coffee production agro-ecologies in Ethiopia, where the genetic diversity of its landrace coffee germplasm was not properly characterized previously. The study aimed to characterize 64 Amaro Kelo local coffee accessions to understand the potential of the accessions for utilization in future coffee genetic improvement efforts. The experiment was laid out in an 8 × 8 simple lattice design with two replications at Awada Agricultural Research Sub-Center. Data were collected on 19 quantitative and 10 qualitative traits, and subjected to multivariate analyses, i.e. cluster and principal component analyses. The cluster analysis identified five clusters based on the quantitative characters, and the distances between most of the clusters were highly significant at P < 0.01. Principal component analysis revealed the first six principal components with Eigenvalues greater than one accounted for 77.7% of the total variation. The first two principal components with respective contributions of 23.32 and 18.85% cumulatively accounted for 42.2% of the total variation in the accessions. In addition, high values of Shannon-diversity index were found for the qualitative traits: branching habit, growth habit, fruit shape, overall appearance and stem habit. In general, the multivariate analyses confirmed the presence of high variation among the studied Amaro-Kelo coffee accessions that might serve as an important genetic resource for future coffee genetic improvement or conservation efforts.
Ceres’ Broad‐Scale Surface Geomorphology Largely Due To Asymmetric Internal Convection
Authors: King Scott D. , Bland Michael T. , Marchi Simone , Raymond Carol A. , Russell Christopher T. , Scully Jennifer E. C. , Sizemore Hanna G.
Published: May 2022

While we now know much about the volatile‐rich world of Ceres from the Dawn mission, the deep interior remains something of an enigma, shrouded by a crust composed of water ice, carbonates, phyllosilicates, salts and clathrate hydrates. While smaller than most active moons or planets, Ceres has many features commonly associated with active, icy bodies including: hydrothermal, cryovolcanic, and tectonic features. Yet on active icy moons tidal heating is a significant component of the thermal budget; it is unclear whether radiogenic heating alone would be sufficient to supply the heat necessary for Ceres' interior to undergo solid‐state convection. Here we show that transient asymmetric convection develops as the temperature within the body rises from heat generated by the decay of long‐lived radionuclides (e.g., U, Th, K). The onset of transient asymmetric convection may reconcile a number of puzzling features on Ceres including: the missing large craters, Hanami Planum—the region of thickened crust, the gravity and crustal thickness, and the lithospheric stress state represented by the Samhain Catenae. Hemispheric‐scale instabilities may also be important in the evolution of small bodies with small cores throughout the solar system, including the small icy moons of Saturn and Uranus as well as Kuiper belt objects.
Toluene NAPL Oxidation by Ferrous Activated Persulfate in a Fractured Rock Glass Replica
Authors: Kalogerakis Georgina C. , Liu Zhipeng , Furbacher Paul , Mondal Pulin K. , Sleep Brent E.
Published: May 2022

Non‐aqueous phase liquids (NAPLs), such as toluene, often contaminate the subsurface. In this study, we focus on the transformation of toluene NAPL trapped in a single glass replica of a rock fracture via in situ chemical oxidation (ISCO) with ferrous activated persulfate. The trapped toluene consisted of a main trapped blob surrounded by smaller blobs. Over 53 days, successive persulfate injections into the fracture were interspersed with periods of water flushing. During persulfate injections, effluent toluene concentrations were below 0.04 mM. The rebound toluene concentrations during intervening water flushing periods decreased from 0.9 to 0.3 mM over the study. The smaller toluene blobs were removed by dissolution and partial oxidation. The main toluene blob was reduced in area by 35.5% and in volume by 37.3% due to dissolution and partial oxidation. The main blob changed in shape with reduction in size and there was also formation of an oxidation by‐product zone around the blob. The reduction in toluene effluent concentrations with time over successive persulfate injections and periods of water flushing was attributed to reductions in the NAPL‐water interfacial area of the blob and the formation of the by‐product zone surrounding the blob, which resulted in limited toluene dissolution. Analysis of by‐products of toluene oxidation by ferrous activated persulfate suggests that oligomers were part of the by‐product zone formed in the fracture. Gas bubbles were also observed in the fracture and may have formed from toluene oxidation and persulfate decomposition.
Seasonality of Four Types of Baroclinic Instability in the Global Oceans
Authors: Feng Ling , Liu Chuanyu , Köhl Armin , Wang Fan
Published: May 2022

Distinct geographical distributions of four types of mesoscale baroclinic instabilities (BCIs) exist in the global oceans, implying preferences of surface or subsurface mesoscale eddies to specific regions. This study explores seasonal variations of global BCI types and their dependence on varying background ocean states with a focus on three representative regions. First, the regions of the Kuroshio Extension and Gulf Stream are representative for distinctive seasonal transition of BCI types: the Charney surface BCIs prevail in winter, while the Phillips BCIs prevail in summer, which is controlled by weak (strong) upper‐layer stratification in winter (summer) but is less impacted by the seasonal changes in the mean flow‐induced shear. Second, the region covering both the tropics and subtropics of the North Pacific (10°N–35°N) is representative for seasonal meridional migration of the border between the domains of the Phillips and the Charney surface BCIs; their border migrates equatorward (poleward) in spring and summer (autumn and winter), which is primarily caused by the equatorward (poleward) shift of both the North Equatorial Current and the Subtropical Countercurrent in spring and summer (autumn and winter), and is secondarily modulated by the variation in the upper‐layer stratification. Third, the Antarctic Circumpolar Current region is chosen to represent a weak seasonal variation of BCIs. Those seasonal variations in BCI types are further demonstrated as being associated with seasonal variations of baroclinic conversion rate, implying possible generation of corresponding eddies.
Association of arterial stiffness and heart failure with preserved ejection fraction in the elderly population – results from the CARLA study
Authors: Schott Artjom , Kluttig Alexander , Mikolajczyk Rafael , Greiser Karin Halina , Werdan Karl , Sedding Daniel , Nuding Sebastian
Published: May 2022

Arterial stiffness has been suspected as a cause of left ventricular diastolic dysfunction and may thereby contribute to the development of heart failure with preserved ejection fraction (HFpEF). However, this association is derived from a small number of studies and application of outdated criteria to diagnose HFpEF. This study aimed to investigate the association of arterial stiffness measured by the augmentation index (AIx) and criteria for diagnosing HFpEF according to the recommended HFA-PEFF score. Our analysis based on data from the first follow-up of the CARdiovascular Disease, Living and Ageing in Halle study. The current analysis included participants with available information about comorbidities and risk factors for HFpEF, parameters for calculation of the HFA-PEFF and noninvasive AIx estimated by applanation tonometry. The association of AIx and HFA-PEFF was investigated through descriptive and inductive statistics. A total of 767 participants were included in the analysis. AIx was associated with E/eʼ, left ventricular wall thickness (LVWT), relative wall thickness, left ventricular mass index (LVMI) and NT-proBNP but not with eʼ or left atrial volume index. However, after adjustment for confounders, only LVMI and LVWT remained associated with AIx. Males with a high AIx had a 3.2-fold higher likelihood of HFpEF than those with a low AIx. In contrast, that association was not present in females. In summary, AIx is associated with the morphological domain of the HFA-PEFF score represented by LVMI and LVWT. Higher values of AIx are associated with a higher likelihood for HFpEF in elderly males but not in females.
Mutant IL7R collaborates with MYC to induce T-cell acute lymphoblastic leukemia
Authors: Oliveira Mariana L. , Veloso Alexandra , Garcia Elaine G. , Iyer Sowmya , Pereira Clara , Barreto Vasco M. , Langenau David M. , Barata João T.
Published: May 2022

T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive pediatric cancer. Amongst the wide array of driver mutations, 10% of T-ALL patients display gain-of-function mutations in the IL-7 receptor α chain (IL-7Rα, encoded by IL7R), which occur in different molecular subtypes of this disease. However, it is still unclear whether IL-7R mutational activation is sufficient to transform T-cell precursors. Also, which genes cooperate with IL7R to drive leukemogenesis remain poorly defined. Here, we demonstrate that mutant IL7R alone is capable of inducing T-ALL with long-latency in stable transgenic zebrafish and transformation is associated with MYC transcriptional activation. Additionally, we find that mutant IL7R collaborates with Myc to induce early onset T-ALL in transgenic zebrafish, supporting a model where these pathways collaborate to drive leukemogenesis. T-ALLs co-expressing mutant IL7R and Myc activate STAT5 and AKT pathways, harbor reduced numbers of apoptotic cells and remake tumors in transplanted zebrafish faster than T-ALLs expressing Myc alone. Moreover, limiting-dilution cell transplantation experiments reveal that activated IL-7R signaling increases the overall frequency of leukemia propagating cells. Our work highlights a synergy between mutant IL7R and Myc in inducing T-ALL and demonstrates that mutant IL7R enriches for leukemia propagating potential.
High resolution multispectral spatial light modulators based on tunable Fabry-Perot nanocavities
Authors: Mansha Shampy , Moitra Parikshit , Xu Xuewu , Mass Tobias W. W. , Veetil Rasna Maruthiyodan , Liang Xinan , Li Shi-Qiang , Paniagua-Domínguez Ramón , Kuznetsov Arseniy I.
Published: May 2022

Spatial light modulators (SLMs) are the most relevant technology for dynamic wavefront manipulation. They find diverse applications ranging from novel displays to optical and quantum communications. Among commercial SLMs for phase modulation, Liquid Crystal on Silicon (LCoS) offers the smallest pixel size and, thus, the most precise phase mapping and largest field of view (FOV). Further pixel miniaturization, however, is not possible in these devices due to inter-pixel cross-talks, which follow from the high driving voltages needed to modulate the thick liquid crystal (LC) cells that are necessary for full phase control. Newly introduced metasurface-based SLMs provide means for pixel miniaturization by modulating the phase via resonance tuning. These devices, however, are intrinsically monochromatic, limiting their use in applications requiring multi-wavelength operation. Here, we introduce a novel design allowing small pixel and multi-spectral operation. Based on LC-tunable Fabry-Perot nanocavities engineered to support multiple resonances across the visible range (including red, green and blue wavelengths), our design provides continuous 2π phase modulation with high reflectance at each of the operating wavelengths. Experimentally, we realize a device with 96 pixels (~1 μm pitch) that can be individually addressed by electrical biases. Using it, we first demonstrate multi-spectral programmable beam steering with FOV~18° and absolute efficiencies exceeding 40%. Then, we reprogram the device to achieve multi-spectral lensing with tunable focal distance and efficiencies ~27%. Our design paves the way towards a new class of SLM for future applications in displays, optical computing and beyond.