nils-herrmann/clean_scirepeval huggingface dataset:
A Novel Compound Heterozygous CYP17A1 Variant Causes 17α-Hydroxylase/17, 20-Lyase Deficiency

Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive diseases characterized by enzyme deficiencies, within steroid hormone anabolism, which lead to disorders in cortisol synthesis. The 17α-hydroxylase/17,20-lyase deficiency (17-OHD) is an uncommon form of CAH caused by variants in the CYP17A1 gene.  We report a novel compound heterozygous CYP17A1 variant and its association with the pathogenesis of 17-OHD.  The patient was assessed for medical history, clinical manifestations, physical examination, laboratory examination, karyotype analysis, and adrenal computed tomography. Mutation screening was conducted using whole-exome sequencing (WES) and Sanger sequencing. The wild-type and mutant CYP17A1 complementary DNAs (cDNAs) were amplified and cloned into a pcDNA3.1(+) vector. These plasmids were transfected transiently into HEK-293T cells. Quantitative PCR and Western blotting analysis were performed to measure the expression level of P450c17. An enzymatic activity assay was conducted to measure the content of 17-hydroxyprogesterone (17-OHP) and dehydroepiandrosterone (DHEA) in medium using liquid chromatography–tandem mass spectrometry (LC-MS/MS).  The proband was characterized by 17-OHD with rhabdomyolysis, hypokalemia, and adrenal insufficiency. Novel compound heterozygous variants of the CYP17A1 gene (c.1304T > C/p.Phe435Ser and c.1228delG/p.Asp410Ilefs*9) were identified. The enzymatic activity assay revealed that this variant resulted in a complete deficiency of 17α-hydroxylase and 17,20-lyase activity. This was consistent with the hormonal characteristics of the proband’s blood.  These results suggest that the compound heterozygous variant of c.1304T > C and c.1228delG of the CYP17A1 gene can lead to 17-OHD. Our findings thus provide a novel insight into the clinical evaluations and molecular basis of 17-OHD.

Field of study: Biology
Embeddings of semisimple complex Lie groups and cohomological components of modules

Let G↪G˜ be an embedding of semisimple complex Lie groups, B⊂B˜ a pair of nested Borel subgroups and G/B↪G˜/B˜ the associated embedding of flag manifolds. Let O˜(λ˜) be an equivariant invertible sheaf on G˜/B˜ and O(λ)O(λ) be its restriction to G/BG/B. Consider the G-equivariant pullback 
 
πλ˜:H(G˜/B˜,O˜(λ˜))→H(G/B,O(λ)). 
 
The Borel–Weil–Bott theorem and Schurʼs lemma imply that πλ˜ is either surjective or zero. If πλ˜ is nonzero, the image of the dual map (πλ˜)⁎ is a G  -irreducible component in a G˜-irreducible module, called a cohomological component. 
 
We establish a necessary and sufficient condition for nonvanishing of πλ˜. Also, we prove a theorem on the structure of the set of pairs of dominant weights (μ,) with V(μ)⊂V˜(μ˜) cohomological. Here V(μ)V(μ) and V˜(μ˜) denote the respective highest weight modules. Simplified specializations are formulated for regular and diagonal embeddings. In particular, we give an alternative proof of a recent theorem of Dimitrov and Roth. Beyond the regular and diagonal cases, we study equivariantly embedded rational curves and we also show that the generators of the algebra of ad-invariant polynomials on a semisimple Lie algebra can be obtained as cohomological components. Our methods rely on Kostantʼs theory of Lie algebra cohomology.

Field of study: Mathematics
Women's Experience of Modernity 1875-1945 (review)

British culture clearly exemplify Kingsbury's conception of peculiar sanity, and her work on Ford goes far to help readers understand a writer whose career seems troubling and contradictory. Though Ford may be the most complex figure in this study, Kingsbury also looks at several authors whose prowar stances were less equivocal. Wells, Wharton, and Kipling all publicly supported the war against Germany and wrote novels and propaganda that overtly supported the British and American campaigns. Through Wells and Wharton in particular, Kingsbury asks the important question: does support of the war necessarily indicate peculiar sanity, or can such a position be the result of reasoned action? One of the most striking aspects of this book is its inadvertent timeliness. Reading The Peculiar Sanity of War during the summer of 2003, I found the title particularly apt for describing not only British and American culture during World War I, but also the current geopolitical situation. Just as Kingsbury describes the renaming of hamburgers and sauerkraut as "liberty sandwiches" and "victory cabbage" respectively, we have "freedom fries." And just as rumor and gossip were used to mobilize public support for the war effort in 1914, debates now rage in the American media over the accuracy of intelligence reports used to generate similar support. This timeliness demonstrates the usefulness of a concept like "peculiar sanity" to understand not only the Great War, but also the wars that have followed.

Field of study: Art
Die relativistische Quantentheorie des idealen Gases

ZusammenfassungDie kinetische Theorie des idealen einatomigen Gases wurde mittels der Mechanik der speziellen Relativitätstheorie im Jahre 1911 vom Verfasser behandelt, und zwar mit Hilfe der Boltzmann-Planckschen Statistik und ohne Berücksichtigung der Quantentheorie. In der gegenwärtigen Arbeit wird neben der relativistischen Mechanik auch die Quantentheorie benutzt und dabei einerseits die Statistik von Bose Einstein, andererseits diejenige von Fermi-Dirac, die wellenmechanisch Gegenstücke von einander bilden, angewandt. Da hier im Gegensatz zur älteren Theorie die Maxwellsche Geschwindigkeitsverteilung nicht mehr gilt, treten jetzt nicht mehwr wie früher nur einzelne Besselsche Funktionen auf, sondern unendliche Reihen von solchen. Auch die Behandlung des bewegten Gases wird angedeutet, indem sein kinetisches Potential angegeben wird.

Field of study: Physics
When You Operate on Friends and Relatives: Results of a Survey among Surgeons

We designed a questionnaire to collect data on surgeons' views and experiences of operating on friends or relatives.  A link to a 38-item online survey was sent to all 16,849 members of the Professional Board of German Surgeons (Bund Deutscher Chirurgen, BDC) several times. Standard interview software was used. The questionnaire collected a wide variety of information concerning how surgeons have experienced, think about, and deal with the situation when they operate on friends or relatives.  Of the 16,849 BDC members notified of the survey, 1,643 completed the questionnaires (9.8%). Of these, 1,275 (77.6%) had previously performed surgery on friends or relatives. Overall, the surgeons willingly accepted doing so without experiencing any difficulties. However, the surgeons frequently used different techniques when operating on friends and relatives (123 [10%] when self-assessed compared to 527 [35%] when observed by others). Out of the whole sample, 506 (30.8%) would appreciate having a guideline or ethical code and 370 (41.2%) of those who have not yet operated on friends and relatives would like to have such an ethical code.  Most of the surgeons who responded accepted the task of operating on friends or relatives. Performing surgery on friends or relatives was a complex matter because objectivity was not guaranteed. Negative implications on personal relationships were rare. We recommend that this matter should be well considered and discussed with the patient and an ethical guideline or code should be created.

Field of study: Medicine
Leichte RacemisierbarkeitN-acylierter a-Amino-?-lactone

Lactone von L-γ-Hydroxyaminosauren sind wesentliche Bausteine samtlicher Toxine des grunen Knollenblatterpilzes (Amanita phalloides). Als N-acylierte Derivate (2a-g) racemisieren diese α-Amino-γ-lactone vom Typ 1 am α-C-Atom bereits unter schwach basischen Bedingungen bei der Lactonringoffnung und Bildung der Carboxylatanionen (. Entsprechendes gilt fur die N-Alkoxycarbonylabkommlinge, nicht dagegen fur N-geschutzte Derivate ohne Carbonylgruppe am Aminostickstoff (z. B. Trityl, Tosyl u. a.). Als Erklarung fur dieses Verhalten wird die durch Nachbarstellung der Acyl- und Lactoncarbonylgruppen begunstigte intermediare Bildung eines Azlactons (1,3-Oxazolin-5-ons) angenommen. 
 
 
 
Facile Racemization of N-Acylated α-Amino-γ-lactones 
 
 
 
The lactones of L-γ-hydroxyamino acids are essential components of all toxins of the green death-cap mushroom, Amanita phalloides. N-Acylated derivatives (2a-g), as α-amino-γ-lactones (type 1), racemize at the α-C atom even under weakly basic conditions on opening the lactone ring and forming the corresponding carboxylate anions (Table 1). Also N-alkoxycarbonyl derivatives racemize under the same conditions, however, N-protected derivatives without a carbonyl group at the amino nitrogen (e. g. trityl, tosyl, etc.) do not. As an explanation for this behaviour, the formation of an intermediate azlactone (1,3-oxazolin-5-one), favoured by the juxtaposition of the acyl and lactone carbonyl groups, is assumed.

Field of study: Chemistry
FINITE ELEMENTANALYSIS OF DEBONDINGAT THE INTERFACE BETWEEN FRPSHEETAND CONCRETE

The debonding behavior at the interface between FRP sheet and concrete is a key problem for the application of FRP in concrete structure strengthening. The difficulties of finite element analysis of this interface problem are discussed and suggestions are given for the FEA modeling. From the numerical tests with FEA software, the requirements for the constitutive relationship model of concrete are discussed. Based on the analysis, an improved planar concrete constitutive relationship mode is developed and the interface debonding between FRP sheet and concrete under shear force is simulated. The numerical results are found consistent with the test results. The parameter values in the model are suggested. Based on the numerical results, the mechanism of interface is discussed.

Field of study: Engineering
A life well lived: Bruce Halliday MD, CCFP(LM), FCFP (1926–2011).

![Figure][1] 

If one sign of a life well lived is how many other lives you have touched, then Ontario family physician Bruce Halliday truly lived his life exceedingly well.

Dr Halliday passed away at his home in Tavistock, Ont, on January 1, 2011, surrounded by his family. A devoted husband,

Field of study: Medicine
The value of a statistical life in Sweden: a review of the empirical literature.

Recent focus on cost-benefit/socio-economic assessment of government "life-saving" programmes within public health, pharmaceutics, transport, and civil contingencies has spurred a wave of empirical research on the value of a statistical life (VSL) in Sweden. This paper provides an overview of the received evidence from a range of studies in one country and over a relatively short time period. A literature search was conducted in Econlit, Pubmed, Google Scholar and in bibliographies of published papers. Twelve studies on VSL with a total of 48 VSL estimates, published with data from Sweden from 1996 onwards, were identified. Among all estimates VSL varies from 9 to 1121 million SEK (€0.9-121 million). Based on a set of additional quality inclusion criteria, as used also in a recent global review of VSL studies, the sample is restricted to 9 studies with a total of 29 VSL estimates with VSL varying from 9 to 98 million SEK (€0.9-10.6 million). The raw mean among these estimates is 34.6 million SEK (€3.7 million) and the median is 23 million SEK (€2.5 million). Currently, official authorities in Sweden recommend a VSL of 22 million Swedish kronor (€2.4 million). We also point out important concerns regarding validity of these estimates: primarily the problem that VSL is significantly related to the size of the mortality risk reduction showing significant scale insensitivity, in contrast to theoretical assumptions but in line with previous empirical findings.

Field of study: Medicine, Political science
Childhood Abuse and its Relationship with Family Status, Gender, and Age in some Jordanian Schools

is the period for children to confident and grow strong and with encouragement and love of their family and an extended society of caring adults.This study examined the relationships between childhood abuse, family status, gender and age in Amman, Jordan.  sample of the study consisting 198 children (123 boys and 75 girls), aged between 8 and 16 years. Some of the participants were living with their fathers and mothers’ others were living in special houses, with a single parent, or with relatives.   results indicated that the children living with their parents reported significantly less than those not living with their parents. No significant effects of gender were found on any of (CTQ) domains except the physical neglect. There were significant differences between children with age range (14-16) and children with smaller ages in all domains of (CTQ) in favor of older ages.  the findings suggest that living far away from a normal family atmosphere is a strong variable affecting on developing childhood trauma.  Childhood abuse, gender, family status, Jordanian schools.  10.7176/JEP/11-33-07 Publication date: November 30 th 2020

Field of study: Education
Method for testing the fault tolerance of MapReduce frameworks

A MapReduce framework abstracts distributed system issues, integrating a distributed file system with an application’s needs. However, the lack of determinism in distributed system components and reliability in the network may cause applications errors that are difficult to identify, find, and correct. This paper presents a method to create a set of fault cases, derived from a Petri net (PN), and a framework to automate the execution of these fault cases in a distributed system. The framework controls each MapReduce component and injects faults according to the component’s state. Experimental results showed the fault cases are representative for testing Hadoop, a MapReduce implementation. We tested three versions of Hadoop and identified bugs and elementary behavioral differences between the versions. The method provides network reliability enhancements as a byproduct because it identifies errors caused by a service or system bug instead of simply assigning them to the network.

Field of study: Computer science
Biomolecules from Plants as an Adaptogen

In present scenario, stress is a common problem which affects not only elders, but also to older and youngster. Long term stress can be detrimental and causes various diseases related to CNS, immune system, neuro-endocrine system, liver, blood, learning, memory defeat and irregular sleeping pattern. A combined approach of traditional and modern system i.e., adaptogens help to overcome the stress and stress related problems. Adaptogens are generally the plant-derived biologically active substances that help to increase the body resistance against physical, biological, emotional and environmental stressors in nonspecific manner through maintenance of internal homeostasis. Adaptogenic herbs exhibit neuro-protective, anxiolytic, anti-fatigue, nootropic, anti-depressive, and CNS stimulating activity. Non-specific action of the adaptogenic herbs decreases the targeted phenomenon and efficiency so that more study, research and clinical trials are required to find the targeted action of adaptogens. In recent years, focus has been shifted towards the adaptogens due to its safety, cost effectiveness and efficacy for maintaining and improving the quality of life. The present review focuses on the mechanism of stress induction, its relation with anxiety, depression and immune system. It also highlights the different herbal biomolecules as an adaptogens that are used in either Ayurveda or Traditional Chinese Medicine [TCM].

Field of study: Agricultural and Food sciences
The Chediak-Higashi gene in humans. III. Studies on the mechanisms of NK impairment.

Lymphocytes from six Chediak-Higashi (CH) patients were markedly depressed in their ability to lyse tumour cell targets in both 51Cr release and single cell cytotoxicity assays. The frequency of lymphocytes bearing the OKM1 marker and the frequency of T3+, T4+, T8+, Ia+, Mo1+, Mo2+ and B1+ cells was normal among sheep erythrocyte rosetting (E+) and non-rosetting (E-) peripheral blood leucocytes analysed by flow cytofluorography. Cells expressing the NK shared markers, OKM1, mac-1, FcR, and the characteristic large granular lymphocyte (LGL) morphology of NK cells were also present in normal numbers in the highly enriched NK fraction separated on Percoll density gradients. This fraction did not contain detectable numbers of cells expressing the Mo2 marker of human monocytes. Therefore most of the cells stained by monoclonal OKM1 and mac-1 in this fraction are likely NK cells, rather than monocytes, and we conclude that the size of the NK pool in CH patients is probably normal. The capacity of CH lymphocytes to recognize and bind to tumour cells was also normal as was the subsequent burst of oxygen intermediates produced by the NK cells in a chemiluminenscence assay. We have shown elsewhere that O2- generation is directly involved in activating subsequent steps in the NK cytolytic pathway. These results suggest that NK cells in CH patients are present in normal frequency but are blocked at some post-recognition, post-activation step in the cytolytic pathway subsequent to the burst of oxygen intermediates but preceding the lethal hit.

Field of study: Biology, Medicine
House Arrest: A Viable Alternative for Sex Offenders?

This article reported on the efficiency of a community-based corrections program, namely, house arrest, presently being implemented in the state of Florida. Primarily, prison over-crowding has served as an impetus to enacting viable detention options for minor offenses. The authors discuss the usefulness and rehabilitative aspects of a house arrest program offered as an alternative to incarceration for sex offenders. The advantages and drawbacks of the program are discussed and two case studies are presented.

Field of study: Psychology
Toughness, Ductility, Flexural, and Compressive Behavior of Metallic Aggregate Concrete

This research investigated the possibility of initiating and developing new materials that can be used in the production of high-performance concrete, which maximizes strength, increases durability, and is suitable for practical applications. The paper documents the feasibility and the structural benefits of the use of some metallic aggregates in the production of stronger, more durable, and more ductile concrete than the concrete made from conventional stone coarse aggregates. The use of these metallic aggregates, in the right proportions, may provide the much-needed improvements in concrete structural performance and in the development of mechanical properties without substantially increasing the unit weight of the resulting mix over that of an equivalent conventional aggregate concrete. Tests were performed on 28-day-old specimens to determine compressive strength, modulus of rupture, splitting tensile strength, and the general stress-strain behavior of concrete containing metallic aggregates. From the test data for concrete with metallic aggregates, appreciable increases in the measured property parameters were observed at 28 days. In general, and as expected, the ascending portion of the stress-strain curves was steeper for concrete with metallic aggregates than for the control mix. Measured mechanical property increases of up to 37% were reported for the compressive strength and up to 37% for the modulus of rupture. The stiffness of concrete was also considerably improved by the use of metallic aggregates. The measured increase in the flexural strength varied from 32% to 73%, while an increase in toughness of up to approximately 25% was observed. Improvements in the measured ductility varied between 21% and 60% of the yield deflection, resulting in an increase of up to 47% in the ductility ratio.

Field of study: Materials science
Forest biodiversity gradients and the human impact in Annapurna Conservation Area, Nepal

Patterns of biodiversity, environment and human impact were studied in 57 sample plots in an 1,178 ha forest area in a rural mountain area of Nepal that is administrated by the Annapurna Conservation Area Project. Alpha-, beta- and gamma-diversity was measured or estimated for six groups of organisms: trees, shrubs, climbers, herbs, polypores and mycorrhizal fungi, and the recorded patterns were correlated with a set of environmental variables. Human impact in terms of fuelwood collection, selective cutting and grazing was found to influence species diversity patterns in all organism groups. Species richness of trees, climbers and polypores at plot level (alpha-diversity) generally responded negatively to human impact, whereas species richness of herbs and shrubs showed a positive relation. Species turnover (beta-diversity), measured as length of the DCA first axis, was significantly correlated to distance to village for all species groups. This indicates that the human impact is very important for the biodiversity patterns in the study area, and that biodiversity connected to undisturbed forest habitats are potentially threatened in the area. The results are discussed in the context of practical conservation. A proposal for future management zones addressing protection of biodiversity without limiting the local use of the forest resource is put forward.

Field of study: Environmental science
Fathers who care and those that don’t: Men and childcare in South Africa

Fathers have an important role to play in childcare and when they are not involved, the children, mothers and fathers themselves are the poorer for it. Yet in many contexts we do not actually know either the extent or nature of father involvement. This article reports on a study that drew on data from a randomised survey of 18–49-year-old men in South Africa to explore levels of childcare participation and to analyse which particular activities men are involved in. The study showed that more than half of fathers take their parental responsibilities seriously. Over 80%, for example, help their children with school homework. A smaller majority (54%) of fathers talk to their children about personal matters and wash their clothes. Despite resource scarcity due to poverty, many seek to be present in their children’s lives. But this is not true for all men. Men who have good communication with their wives; who perceive their own fathers as kind; and who are generally more egalitarian in their gender attitudes are more likely to be caring fathers. Conversely, fathers who are violent towards women; who abuse alcohol; and who do not have gender equitable views are least likely to care for their children.

Field of study: Sociology
Depolarization-induced signaling to Ras, Rap1 and MAPKs in cortical neurons.

In neurons, membrane depolarization triggers pleiotropic signaling which includes the activation of the small GTPases, Ras and Rap1, and the mitogen-activated protein kinases (MAPKs) Erk1/2. We have studied the intracellular signaling mechanisms which regulate these events in mouse-cultured cortical neurons. We show that depolarization induces activation of both Ras and Rap1, although with different kinetics: Ras activation is strong and fast while Rap1 activation is slower and weaker. Blockade of calmodulin affects the GTP-loading of Ras and Rap1 and prevents the MAPK response. Moreover, protein kinase A (PKA) activity is required for depolarization-induced Rap1 activation and full Erk stimulation, but is not involved in that of Ras. This PKA-dependent Rap1 activation does not require Src family kinases, but, in contrast to Ras, is sensitive to genistein, indicating the involvement of a tyrosine kinase-dependent mechanism. Our data provide new insights into the regulation of Ras and Rap1 activation in neurons.

Field of study: Biology