nils-herrmann/clean_scirepeval huggingface dataset:
GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease (ADPKD) typically results from a mutation in the PKD1 and PKD2 genes, which code for polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Mutations in these genes promote renal cystic dysplasia and are a significant cause of End-Stage Kidney Disease (ESKD). Polycystic kidney disease-3 (PKD3), another form of ADPKD, is caused by mutations in glucosidase II alpha subunit (GANAB) gene and present in mid- and late adulthood. We report a description of an ADPKD case in a 12-year-old female presented bilateral renal cysts in adolescence. Two mutations in two genes PKD1 and GANAB were identified by targeted capture and next-generation sequencing (NGS) on an Illumina sequencing system. The identified PKD1 mutation p.Pro61Leu: c.182C > T (CCC > CTC) a missense type of uncertain clinical significance. However, the identified PKD1 mutation can alter transcription factors motifs and consequently disturb the transcription process. The second mutation identified in GANAB locus, p.Arg61Ter: c.181C > T, a nonsense type, CGA > TGA. The mutation is unreported pathogenic variant can cause loss of the glucosidase II alpha subunit normal protein function. Both the patient father and paternal grandmother had a history of ADPKD but never were tested. This case is the first case of combine presentation on PKD1 and PKD3 in a pediatric patient with nephrolithiasis.

Field of study: Biology
A Framework for One-Bit and Constant-Envelope Precoding Over Multiuser Massive MISO Channels

Consider the following problem: A multi-antenna base station (BS) sends multiple symbol streams to multiple single-antenna users via precoding. However, unlike conventional multiuser precoding, the transmitted signals are subjected to binary, unit-modulus, or even discrete unit-modulus constraints. Such constraints arise in the one-bit and constant-envelope (CE) massive MIMO scenarios, wherein high-resolution digital-toanalog converters (DACs) are replaced by one-bit DACs and phase shifters, respectively, for cutting down hardware cost and energy consumption. Multiuser precoding under one-bit and CE restrictions poses significant design difficulty. In this paper we establish a framework for designing multiuser precoding under the one-bit, continuous CE and discrete CE scenarios all within one theme. We first formulate a precoding design that focuses on minimization of the symbol-error probabilities (SEPs), assuming quadrature amplitude modulation (QAM) symbol constellations. We then devise an algorithm for our SEP-based design. The algorithm combines i) a novel penalty method for handling binary, unit-modulus and discrete unit-modulus constraints; and ii) a first-order non-convex optimization recipe custom-built for the design. Specifically, the latter is an inexact majorizationminimization method via accelerated projected gradient, which, as shown by simulations, runs very fast and can handle a large number of decision variables. Simulation results indicate that the proposed design offers significantly better bit-error rate performance than the existing designs.

Field of study: Engineering
Effect of private health insurance on health care utilization in a universal public insurance system: a case of South Korea.

This study examined the effect of private health insurance (PHI) on health care utilization in South Korea using a nationally representative sample of 9512 adults participating in Korea Health Panel Survey (KHPS). We compared the health care utilization and subsequent expenditure according to whether or not and how many PHIs are purchased, controlling for the endogeneity of insurance purchase by propensity score matching method and Heckman-type treatment effect model. The results of this study show that the probability of any health care utilization, both outpatient care and inpatient care, is higher for the people who have PHI. For those who utilize health care, PHI has a positive impact on outpatient expenditure, but not on the number of outpatient visits. The effect of PHI on the number of inpatient days and expenditure is not statistically significant among the users of inpatient care. These results imply a need for policy options to mitigate the moral hazard effect of PHI in the outpatient care sector.

Field of study: Medicine, Political science
Plasmodesmatal pores in the torus of bordered pit membranes affect cavitation resistance of conifer xylem.

The pit membrane in bordered pits of conifer tracheids is characterized by a porous margo and central thickening (torus), which is traditionally considered to function as an impermeable safety valve against air-seeding. However, electron microscopy based on 33 conifer species, including five families and 19 genera, reveals that pores occur in the torus of 13 of the species studied. The pores have a plasmodesmatal origin with an average diameter of 51 nm and grouped arrangement. Evidence for embolism spreading via pores in tori is supported by the pore sizes, which correspond relatively well with the pressure inducing cavitation. Predictions based on earlier correlations between pit structure and cavitation resistance were only weakly supported for species with punctured tori. Moreover, species with punctured tori are significantly less resistant to cavitation than species with non-punctured tori. Nevertheless, absolute pore diameters must be treated with caution and correlations between theoretical and measured air-seeding pressures are weak. Because most pores appear not to traverse the torus but are limited to one torus pad, only complete pores would trigger air-seeding. Embolism spreading through a leaky torus is not universal across gymnosperms and unlikely to represent the only air-seeding mechanism.

Field of study: Environmental science
Zonal differences in ethanol-induced impairments in fluid-phase endocytosis in rat hepatocytes.

We have previously shown that ethanol administration impairs the processes of fluid-phase endocytosis (FPE) and receptor-mediated endocytosis (RME) in isolated rat hepatocytes after as early as 1 week of ethanol administration. The defects in RME were most prominent in the perivenule (PV) region of the liver lobule, the area wherein alcoholic liver disease has been shown to start and predominate. We undertook the present study to see if changes in FPE were likewise more apparent in the PV versus the periportal (PP) region of the liver. For these studies, we fed male Sprague-Dawley rats with an ethanol-supplemented liquid diet or an isocaloric control diet for 1 or 5 weeks. PV and PP hepatocytes were isolated using a digitonin-collagenase perfusion method. Internalization and efflux of the marker dye, Lucifer Yellow, was then examined in the cell populations. After as early as 1 week of feeding, cells from the PV region in ethanol-fed animals showed dramatic impairments in the net internalization of dye, compared with PV cells from the pair-fed controls, and these changes persisted throughout the 5-week feeding period. In contrast, internalization of Lucifer Yellow in cells from the PP region of the liver were not different between control and ethanol animals. Because net internalization represents the balance between uptake into the cells versus efflux from the cells, we examined these components individually. Early uptake of the dye into the cell was not altered by ethanol treatment. The decreased net internalization seemed to be caused by enhanced efflux of the dye, which was significantly increased in PV cells, compared with the same cell type in control animals. Cells from the PP region of the ethanol-fed animals did not exhibit altered efflux after either 1 or 5 weeks of feeding. These results indicate that ethanol-induced impairments in FPE are more dramatic in the PV region of the liver, and these impairments seem to result from an ethanol-induced enhancement of efflux.

Field of study: Medicine
Evaluation of Electromigration Behaviors of Pb-Free Microbumps in Three-Dimensional Integrated Circuit Packaging

This study investigated electromigration (EM) behaviors of Pb-free microbumps in three-dimensional integrated circuit (3D IC) packaging under electrical current stressing from 1 × 104 A/cm2 to 1 × 105 A/cm2 at ambient temperature of 150°C. EM-induced fast under bump metallization consumption at the cathode of the microbumps was observed when the current density was higher than 8 × 104 A/cm2, whereas no EM-induced damage of the microbumps was found after 14,416 h when the current density was below 1.5 × 104 A/cm2. We propose that the different EM behaviors of the microbumps were mainly due to the effect of back stress. The critical microbump height to trigger EM for different current densities is discussed, and the resistance evolution of samples during current stressing was found to be correlated with the microstructure of the samples. When the resistance was stable through the whole test period, microscopic inspection of the 3D IC samples indicated that the whole microbumps were transformed to intermetallic compounds without significant EM-induced damage. However, the resistance evolution of some misaligned microbumps exhibited a feature of an early spike along with a huge resistance fluctuation during current stressing. When the resistance abruptly increased after lengthy stressing, EM-induced void formation was observed at the cathode side of the Al trace.

Field of study: Materials science
Alex, the toolmaker: Tool-and-result activity in the L2 learning context

The L2 field has seen recurrent calls for pedagogical approaches that, on the one hand, emphasize learner communicative needs as a starting point, and that, on the other hand, reexamine the importance of dialogic support offered to learners as they employ instructional materials during authentic tasks. Particular attention has been paid to overcoming this methodological gap within the L2 Vygotskian tradition, particularly through concept-based approaches. More recently, Poehner & Infante, 2015 , Poehner & Infante, 2017 have proposed Mediated Development (MD), a framework for guiding dialogic interaction with learners intended to render concept-based instructional materials as cognitive tools to regulate learner L2 use. The present paper extends this work by examining a particular aspect of learner development: self-generated representations of an abstract linguistic concept. Analysis of recorded and transcribed interactions between a mediator and secondary school and university ESL learners reveals how modeling and controlled practice activities of the instructional materials, informed by the MD framework, were critical to participant ability to create original conceptual representations of the English tense-aspect system that elaborated the concepts presented by the mediator. We discuss this finding in relation to Newman and Holzman's (1993) proposal of tool-and-result as a Vygotskian methodology.

Field of study: Education, Linguistics
The formation and significance of polyconjugated systems in thermal and thermo-oxidative processes

The processes of formation of polyconjugatcd fragments during thermal oxidation of polymers and the reactions of low molecular compounds yielding polymers with an extended system of conjugation are considered. It is shown from the experimental data that the polyconjugated system (PCS) formed during thermal oxidation and thermolysis exerts initiating or activating action during the process. The cause of such properties of the PCS is the existence in macromolecules of stable biradicals capable of complex formation with diamagnetic molecules. in this complex the radical reactivity is enhanced due to an increased probability of ST transfer (effect of local activation). Initiation of hydroperoxide decomposition caused by the PCS explains the high synergetic action of mixtures of polyconjugated polymers formed during thermal oxidation or thermolysis of monomeric inhibitors (bisphenols, aromatic amines, etc.) and initial monomers not subjected to such treatment. It is shown that during thermolysis along with paramagnetic centres (PMC), the active radicals are formed due to the rupture of valence bonds. These a-radicals stabilized by a rigid matrix diminish the thermal-oxidative stability when molecular mobility is 'frozen'. The activity of a-radicals, under proper conditions, can suppress the inhibiting effect of stable PMC complexes and cause transition from oxidation to burning. The probability of purposeful regulation of PCS action is associated with the information about the PMC formation mechanism during the growth of polyconjugated chain. The author's attitude concerning the existence of paramagnetic branched chains resulting from local ic-bonds unpairing in PCS is considered. Due to this fact a paramagnetic avalanche is formed because of ST transition activation in a complex with other macromolecules by PMC formed during the preceding step. The advanced theory is in excellent agreement with known experimental data and may be useful for interpretation and prediction of the results of future investigations. By means of thermodynamic calculations it is easy to show that in many cases the propagation of a polyconjugated chain is the most probable process in the thermal and thermo-oxidative destruction of organic compounds1. The reason for this is connected with the decrease in internal energy for the transition from 'saturated' compounds to substances with a system of

Field of study: Chemistry
RETRACTED: Pattern and timing of the Early Jurassic calcareous nannofossil crisis

April 2014Received in revised form 12 June 2014Accepted 23 June 2014Available online 30 June 2014Keywords:Early ToarcianCalcareous nannofossilsBiocalciﬁcation crisisCarbonate production TheToarciancalcareousnannofossilcrisisassociatedwiththeearlyToarcianOceanicAnoxicEvent(T-OAE)intheEarlyJurassicperiodisthoughttorepresentoneofthemostimportantbiocalciﬁcationcrisesduringtheMesozo-ic,occurringsimultaneouslywithaprofounddisturbanceofthecarboncycle.However,thecausesarestillunderdebate, particularly with regard to the pattern, timing of the biocalciﬁcation crisis, relative roles of intrinsic andextrinsic processes as drivers of the crisis, and also causal mechanisms of the T-OAE.In this study, a new quantiﬁcation of Toarcian calcareous nannofossil abundance and size is presented for theSancerre borehole (Paris Basin, France). Beyond the recognition of a severe biocalciﬁcation crisis deﬁned bythe major drop in abundance, and the reduction in size of the most important pelagic carbonate producerSchizosphaerella punctulata, for the ﬁrst time, this study proposes an insight into the pace and timing of thenannoplanktoncrisis.AtSancerre,thecarbonateproductionofthelowerToarciansedimentspreviouslyattribut-ed to obliquity forcing of climate allows to estimate a duration of ~210 kyr for the biocalciﬁcation crisis andof ~120 kyr for the shift towards lower carbon isotope values. The onset of the biocalciﬁcation crisis marked bya fertility event lasted~60kyr,andthe calciumcarbonate valuesremainedlow for ~150 kyr;thesubsequent re-covery of carbonate and nannoplankton lasted ~60 kyr and N550 kyr, respectively. Additionally, a link betweenthe biocalciﬁcation crisis, the seawater palaeotemperature, and the carbon isotope steps can be demonstrated.This covariance provides compelling evidence of fundamental change in the response of the climatic warmingand the carbon cycle systems triggering the biocalciﬁcation crisis. These observations indicate that thebiocalciﬁcation crisis can be regarded as a direct or indirect consequence of a global warming. Moreover, a deﬁ-ciency of the biological pump is proposed here as a complementary casual mechanism for explaining thenegative carbon-isotope excursion.  Analyticalanalysis 584.  Calcareousnannofossilpreservation 594.2. Stratigraphicdistributionofthecalcareousnannoplankton 594.3. Clusterandprincipalcomponentanalyses 594.4. Evolution of Schizosphaerella size 605.   Patternsinnannofossilassemblageswithinpre-eventstableenvironmentalconditions 605.1.2. TheT-OAEperturbationasrecordedbynannofossilassemblages 605.1.3. Theenvironmentalrecoveryasrecordedbynannofossilassemblages 605.2. Expressionandevolutionofthebiogeniccarbonateproduction 615.3.

Field of study: Environmental science, Geography
Nearly Optimal Robust Secret Sharing against Rushing Adversaries

Robust secret sharing is a strengthening of standard secret sharing that allows the shared secret to be recovered even if some of the shares being used in the reconstruction have been adversarially modified. In this work, we study the setting where out of all the n shares, the adversary is allowed to adaptively corrupt and modify up to t shares, where \(n = 2t+1\) (Note that if the adversary is allowed to modify any more shares, then correct reconstruction would be impossible.). Further, we deal with rushing adversaries, meaning that the adversary is allowed to see the honest parties’ shares before modifying its own shares.

Field of study: Computer science, Mathematics
Monocyte chemoattractant protein‐1 (MCP‐1) inhibits the intestinal‐like differentiation of monocytes

Monocytes (MO) migrating into normal, non‐inflamed intestinal mucosa undergo a specific differentiation resulting in a non‐reactive, tolerogenic intestinal macrophage (IMAC). Recently we demonstrated the differentiation of MO into an intestinal‐like macrophage (MAC) phenotype in vitro in a three‐dimensional cell culture model (multi‐cellular spheroid or MCS model). In the mucosa of patients with inflammatory bowel disease (IBD) in addition to normal IMAC, a reactive MAC population as well as increased levels of monocyte chemoattractant protein 1 (MCP‐1) is found. The aim of this study was to investigate the influence of MCP‐1 on the differentiation of MO into IMAC. MCS were generated from adenovirally transfected HT‐29 cells overexpressing MCP‐1, macrophage inflammatory protein 3 alpha (MIP‐3α) or non‐transfected controls and co‐cultured with freshly elutriated blood MO. After 7 days of co‐culture MCS were harvested, and expression of the surface antigens CD33 and CD14 as well as the intracellular MAC marker CD68 was determined by flow‐cytometry or immunohistochemistry. MCP‐1 and MIP‐3α expression by HT‐29 cells in the MCS was increased by transfection at the time of MCS formation. In contrast to MIP‐3α, MCP‐1 overexpression induced a massive migration of MO into the three‐dimensional aggregates. Differentiation of IMAC was disturbed in MCP‐1‐transfected MCS compared to experiments with non‐transfected control aggregates, or the MIP‐3α‐transfected MCS, as indicated by high CD14 expression of MO/IMAC cultured inside the MCP‐1‐transfected MCS, as shown by immunohistochemistry and FACS analysis. Neutralization of MCP‐1 was followed by an almost complete absence of monocyte migration into the MCS. MCP‐1 induced migration of MO into three‐dimensional spheroids generated from HT‐29 cells and inhibited intestinal‐like differentiation of blood MO into IMAC. It may be speculated that MCP‐1 could play a role in the disturbed IMAC differentiation in IBD mucosa.

Field of study: Biology, Medicine
The extent of uremic malnutrition at the time of initiation of maintenance hemodialysis is associated with subsequent hospitalization.

End-stage renal disease (ESRD) patients with signs of uremic malnutrition at the time of initiation of maintenance hemodialysis (MHD) are likely to remain malnourished over the subsequent year. Because poor nutritional status is associated with worse clinical outcomes in MHD patients, we hypothesized that ESRD patients with evidence of uremic malnutrition at the time of initiation of MHD would have more hospitalization events compared with patients initiating MHD without signs of malnutrition during the first year of therapy.



This was an observational cohort of incident MHD patients, with no specific nutritional intervention.



Vanderbilt University Outpatient Dialysis Unit.



All newly initiated MHD patients at Vanderbilt University Outpatient Dialysis Unit were recruited for study purposes. A total of 149 patients were included in the study.



The following parameters were recorded at the time of initiation of MHD: age; race; gender; serum concentrations of albumin, creatinine, cholesterol, and transferrin; and whether the patient had insulin-dependent diabetes mellitus. The number of hospital admissions and length of stay in the hospital were recorded for all study patients during the first year of MHD. Associated hospital charges were obtained for a subgroup of 52 patients.



Study variables were associated with hospitalization in the subsequent year, the number of hospital admissions, and the length of stay in the hospital. Patients who initiated MHD in the lowest quartile of serum albumin had a significantly greater average of admissions compared with patients who initiated in the highest quartile (1.77 +/- 1.82 versus 0.72 +/- 0.96 admissions, P =.002). The length of stay in the hospital was also higher in the lowest quartile of serum albumin (8.96 +/- 9.96 versus 3.83 +/- 5.68 days, P =.006). Serum creatinine was also inversely associated with greater average number of admissions (2.27 +/- 2.41 versus 0.83 +/- 1.68 admissions, P =.004) and longer length of stay (12.43 +/- 15.15 versus 4.72 +/- 11.57 days, P =.017) in lowest compared with the highest quartile. In addition, the costs associated with hospitalizations were higher in the group of patients initiating MHD with lower concentrations of serum albumin and serum creatinine.



In this study of incident MHD patients, the concentrations of 2 nutritional parameters, serum albumin and serum creatinine at the time of initiation of MHD, were significantly and negatively associated with hospitalization events. There was also a trend for greater hospital charges in patients with lower concentrations of serum albumin and creatinine.

Field of study: Medicine
Relationship between Oncomelania hupensis fausti Bartsch distribution and land types with herbs in the low hill area along the Changjiang River in Chizhou City

The characteristics of snail distribution in six land use types, and the relationship between Oncomelania hupensis fausti Bartsch distribution and characteristics of herb in different land use types were investigated in the low hill area. The results were as follows. Firstly, snails were found in bottomland poplar forest land,dry land, beach, wasteland, irrigation canal and paddy field, while there was no snail in other forest land types.Especially, the occurrence rate of snail frame and the density of snail exhibited the same regularity that was beach﹥irrigation canal﹥paddy field﹥dry land﹥wasteland﹥bottomland poplar forest land. Secondly, on the whole,the suitable conditions including height, cover degree and species richness of herbs for snails' propagation were16-20 cm, 80%-90%, 6-7, respectively. The relation between density of snail and height of herb showed y=-0.024 8x2+0.220 9x-0.235 2, y=-0.172 5x2+0.959 5x-0.807 5, y=-0.090 2x2+0.405 5x+1.714 3, y=-0.066 7x2+0.458 3x-0.074 3, y=-0.285 0x2+1.549 0x-0.955 0, respectively in bottomland poplar forest land, dry land, beach,wasteland, irrigation canal, and the relation between density of snail and cover degree of herb were y =- 0.095 0x2+ 0.365 0 x + 0.155 0, y=- 0.335 0 x2+ 1.921 0 x-1.705 0 in dry land, wasteland, respectively. In addition, the relation between density of snail and species richness of herb were y =-0.021 2x2+ 0.205 7x- 0.178 1, y =-0.058 1x2+0.424 8x- 0.300 0, y=-0.479 3x2+ 3.060 7x-2.456 0, y=- 0.043 6x2+0.270 4x + 0.208 0, y=-0.067 5x2+ 0.778 8x-0.942 0, y=-0.128 2x2+ 0.8186x- 0.4240 in bottomland poplar forest land, dry land, beach, wasteland, irrigation canal and paddy field, respectively.

Field of study: Agricultural and Food sciences