bluuebunny/crossref_metadata_2025 huggingface dataset:
Carrier frequency of SMN1‐related spinal muscular atrophy in north Indian population: The need for population based screening program
Authors: Nilay Mayank , Moirangthem Amita , Saxena Deepti , Mandal Kausik , Phadke Shubha R.
Published: October 2020

Chromosome 5q related Spinal muscular atrophy (SMA) is an autosomal recessive, progressive, neuromuscular disorder most commonly caused by homozygous deletion of exon 7 or exon 7 and 8 of SMN1 gene. Being the leading genetic cause of infant mortality, studies of its prevalence and incidence are necessary. Carrier testing for the common pathogenic variant for SMA is offered to the couples visiting our tertiary care hospital in North India. Subjects were tested for SMA carrier status by Multiplex Ligation‐dependent Probe amplification (MLPA) technique for deletion of exons 7 and 8 of SMN1 gene. The retrospective data of individuals tested for SMA carrier status in last 4 years (2016–2019) was evaluated. Six hundred and six individuals without family history of SMA or carrier of SMA who were subjected to MLPA based screening for SMA carrier status were included in the study. The carrier frequency of SMN1 deletion (deletion of exon 7 and/or exon 8) was found to be 1 in 38 (16 out of 606). The catchment area of our medical genetics clinic covering the state of Uttar Pradesh (16.5% of Indian population according to censusindia.gov.in, 2011) and neighboring states, showing SMA carrier frequency of 1:38 in a cohort with no prior positive family history has important significance for policy making.
Synthesis of 2‐Substituted Tryptamines via Cyanide‐Catalyzed Imino‐Stetter Reaction
Authors: Kim Hyung Joo , Cheon Cheol‐Hong
Published: October 2020

Herein, we describe the development of a two‐step protocol for the synthesis of 2‐substituted tryptamine derivatives from 2‐aminocinnamyl nitriles and aldehydes. The cyanide‐catalyzed imino‐Stetter reaction of 2‐aminocinnamyl nitriles and aldehydes provided 2‐substituted indole‐3‐acetonitrile derivatives. Subsequent reduction of the nitrile group afforded the desired 2‐substituted tryptamine derivatives. The utility of this protocol was demonstrated in the synthesis of a potential inhibitor of 15‐lipoxygenase. Furthermore, the resulting 2‐substituted indole‐3‐acetonitriles were converted to several 2,3‐disubstituted indole derivatives upon transformation of the nitrile group into other functional groups.
Rh(III)‐Catalyzed N‐Nitroso Directed C‐H Arylation for Facile Construction of Diverse N‐Hetero Biaryl Compounds
Authors: Wang Pei‐Long , Wang Yan , Li Yan , Wang Xi‐Sheng
Published: October 2020

A Rh(III)‐catalyzed C−H arylation reaction of N‐nitrosoanilines has been developed in which arylboronic acids were used as arylation reagents. It provides an efficient strategy for the synthesis of N‐nitroso‐[1,1′‐biphenyl]‐2‐amine, which is an important starting material for the synthesis of N‐hetero biaryl compounds, such as 2‐amine‐1,1′‐biphenyl, carbazole, phenanthridone. This protocol can be applied to various N‐alkyl substituted N‐nitrosoanilines and N‐nitrosoanilines with substituents on the phenyl ring. Arylboronic acids with both electron‐donating and electron‐withdrawing groups are tolerated.
Investigating the interaction of mitoxantrone with anionic surfactants by spectrofluorimetry and its application for the feasible analysis of pharmaceutical preparation and biological fluids
Authors: Hamad Ahmed Abdulhafez , Ali Ramadan , Derayea Sayed M.
Published: October 2020

The behaviour of mitoxantrone (MTX), an anthracenedione antineoplastic agent, in different types of organized medium was explored using molecular spectrofluorometry. The original fluorescence and quantum yield of MTX were augmented by about five‐fold in the aqueous buffered solution (Britton–Robinson, pH 3.0) by the addition of sodium dodecyl sulfate. Enhancement in the fluorescence intensity did not come from the boost in the ultraviolet (UV) light absorbance of the drug in the presence of micelles but due to shielding of the lowest excited singlet state of the drug from a radiationless process inside the cavity of the micelle. Accordingly, a versatile, sensitive, and feasible spectrofluorimetric method was constructed and evaluated for MTX determination. Fluorescence measurements were performed at 675 nm (λex 610 nm). A linear relationship was shown between fluorescence intensity and drug concentration within the range 0.01–2.0 μg ml−1 of MTX with a correlation coefficient of 0.9999 and a detection limit of 2 ng ml−1. The developed method was effectively used for analysis of MTX in biological samples and dosage forms. In addition, the method was expanded to study the stability of MTX exposed to different drastic degradations and the kinetic parameters of the degradation were calculated.
Vitamin D levels are associated with trait resilience but not depression in a general population sample
Authors: Terock Jan , Hannemann Anke , Janowitz Deborah , Müller Jasmin , Völzke Henry , Grabe Hans J.
Published: October 2020

Introduction

Insufficient vitamin D levels were found to be related to various psychiatric disorders and particularly depression. The functional polymorphisms rs4588 and rs7041 of the vitamin D‐binding protein (also group‐specific component or Gc) influence vitamin D level and activity. Resilience is considered the individual predisposition to maintain psychological functioning in the face of adversities. We sought to investigate whether associations of vitamin D levels and genotypes of rs4588 and rs7041 were associated with trait resilience and symptoms of depression.

Methods

Serum levels of total 25(OH)D were measured in a general population sample (n = 1,908) of the Study of Health in Pomerania (SHIP‐1). The Resilience Scale‐25 (RS‐25) was applied to assess trait resilience. Lifetime depressive symptoms were assessed using the CID‐S, while current depressive symptoms were measured using the Beck Depression Inventory II (BDI‐II). Study participants were genotyped for rs4588 and rs7041.

Results

Participants with vitamin D insufficiency had lower adjusted mean RS‐25 scores as compared to vitamin D replete subjects (p = .002). Linear regression analyses revealed a positive association between 25(OH)D and RS‐25 scores (ß = 2.782, p = .002). Additional adjustment for BDI‐II scores slightly attenuated this result (ß = 1.830 and p = .026). Symptoms of depression and the lifetime diagnosis of MDD were not significantly associated with vitamin D concentrations. rs4588 and rs7041 showed strong associations with vitamin D concentrations (both p < .001), but not RS‐25 scores.

Conclusions

In contrast with previous studies, our findings do not provide evidence for a strong role of vitamin D in the psychopathology of depression. However, considering the role of trait resilience as a common protective factor to different psychiatric disorders, our results support the concept of low vitamin D as a general risk factor to stress‐related psychopathologies.
Surgical redo versus transseptal or transapical transcatheter mitral valve‐in‐valve implantation for failed mitral valve bioprosthesis
Authors: Simonetto Federico , Purita Paola A. M. , Malerba Massimiliano , Barbierato Marco , Pascotto Andrea , Mangino Domenico , Zanchettin Chiara , Tarantini Giuseppe , Gerosa Gino , D'Onofrio Augusto , Cernetti Carlo , Favero Luca , Daniotti Alessandro , Minniti Giuseppe , Caprioglio Francesco , Erente Giovanna , Hinna Danesi Tommaso , Frigo Anna Chiara , Ronco Federico
Published: October 2020

Background

Redo surgical mitral valve replacement (SMVR) is the current standard of care for patients with failed bioprosthetic mitral valve (MV). Transcatheter mitral valve‐in‐valve replacement (TMViV) is arising as an alternative to SMVR in high risk patients. We sought to evaluate procedural safety, early and mid‐term outcomes of patients who underwent transseptal TMViV (TS‐TMViV), transapical TMViV (TA‐TMViV), or redo‐SMVR.

Methods

We identified patients with failed bioprosthetic MV who underwent TS‐TMViV, TA‐TMViV, or SMVR at four Italian Centers. Clinical and echocardiographic data were codified according to Mitral Valve Academic Research Consortium definition (MVARC), except for significant valve stenosis.

Results

Between December 2012 and September 27, 2019 patients underwent TS‐TMViV, 22 TA‐TMViV, and 29 redo‐SMVR. TS‐TMViV and TA‐TMViV patients presented higher mean age and surgical risk scores compared with SMVR group (77.8 ± 12 years, 77.3 ± 7.3 years, 67.8 ± 9.4 years, p < .001; STS PROM 8.5 ± 7.2; 8.9 ± 4.7; 3.6 ± 2.6, p < .001). TS‐TMViV procedure was associated with shorter intensive care unit time and total length of stay (LOS) compared with TA‐TMViV and SMVR group. There were no differences in MVARC procedural success at 30‐days (74.1, 72.7, and 51.7%, p = .15) and one‐year all‐cause mortality between groups (14.8, 18.2, and 17.2%, p = 1.0). MV mean gradient was similar between TS‐TMViV, TA‐TMViV, and SMVR groups at 30 days and 12 months.

Conclusions

For the selected patients, TS‐TMViV and TA‐TMViV are to be considered a valid alternative to redo‐SMVR with comparable 1‐year survival. TS‐TMViV is the less invasive strategy and has the advantage of shortening the LOS compared with TA‐TMViV.
Sex and age differences in locomotor and anxiety‐like behaviors in rats: From adolescence to adulthood
Authors: Bishnoi Indra R. , Ossenkopp Klaus‐Peter , Kavaliers Martin
Published: October 2020

Risk‐taking behaviors are a primary contributor to elevated adolescent injury and mortality. Locomotor and anxiety‐like behaviors in rodents have been used to examine risk‐taking. Here, we examined risk‐taking behavior (i.e., changes in locomotor and anxiety‐like behaviors) from early to late adolescence and adulthood in male and female rats in the open‐field (OF) apparatus and the light–dark (LD) test. We also examined whether these behaviors are affected by an early adolescent immune stressor, lipopolysaccharide (LPS). Long‐Evans male and female rats were injected with LPS (200 μg/kg) or vehicle control in early adolescence (postnatal day [PND] 30 and 32). Anxiety‐like behavior and locomotor activity were measured in early (PND 38–40), late adolescence (PND 50), and adulthood (PND 88 and 98) in the OF and in early adolescence (PND 42) and adulthood (PND 90) in the LD test. Early and late adolescent rats displayed significantly greater locomotor and anxiety‐like behaviors than adult rats in the OF and LD test. Sex differences were also found, with adolescent and adult females displaying greater locomotor and anxiety‐like behaviors than male rats in the OF and LD tests. LPS administered two times in early adolescence did not have a significant impact on either locomotor or anxiety‐like behaviors suggesting minimal impact of the immune stressor.
Photo‐electrochemical activity and selectivity of nanocrystalline BaTiO3 electrodes in water oxidation
Authors: Klusáčková Monika , Nebel Roman , Krtil Petr , Krýsová Hana , Pittkowski Rebecca K. , Macounová Kateřina Minhová
Published: October 2020

Nanocrystalline BaTiO3 photocatalysts were prepared by spray‐freeze/freeze‐drying procedure in presence of structure directing gelatin. The synthetic approach yields materials with particle sizes ranging between 20 and 60 nm conforming to cubic perovskite structure. Regardless of the structural differences, the materials show particle size independent bandgap energy of ca. 3.27 eV. All prepared materials are photo‐electrochemically active in water oxidation with intrinsic activity decreasing with decreasing particle size. The photo‐electrochemical activity of BaTiO3 in water oxidation is pH dependent with the hole charge transfer processes being significantly suppressed in alkaline media. Such a behavior can be ascribed to deprotonation of surface OH groups encountered in alkaline media that promotes surface state catalyzed electron transfer reactions at the illuminated BaTiO3 surface. The barium titanate shows the ability to oxidize water with formation of oxygen and ozone. The ozone formation is pronounced on large nanocrystals particularly in acid media. No ozone formation was observed in alkaline solutions.
Structural characteristics and porosity estimation of organic matter‐hosted pores in gas shales of Jiaoshiba Block, Sichuan Basin, China
Authors: He Chencheng , He Sheng , Zhang Tongwei , Yang Rui , Shu Zhiguo , Han Yuanjia
Published: October 2020

Nanoscale organic matter‐hosted pores (OM pores) are the dominant pore type in the marine, organic‐rich shales of the Upper Ordovician Wufeng Formation and the Lower Silurian Longmaxi Formation's first member in the Jiaoshiba Block, which provide important reservoir space for shale gas accumulation. In this study, field emission scanning electron microscopy (FE‐SEM), statistical analysis using ImageJ software, and gas adsorption tests were conducted to investigate the characteristics of OM pores, including pore shape, pore size distribution, pore quantity, and organic porosity. FE‐SEM images show that the OM pore sizes range between 2 and 900 nm. The predominant shape of the OM pores in the Wufeng shale is an irregular polygon, while elliptical and subrounded OM pores were observed in the Longmaxi Formation's first member shale. Average cross‐section area ratios of the OM pores to corresponding single‐particle organic matter (ØOMP/OM) for shale samples obtained via statistical analysis of FE‐SEM images range between 10% and 30%. We propose a new combination approach for the estimation of organic porosity, which gives organic porosities for the Wufeng shale and Longmaxi Formation's first member shale of 0.56%‐4.47% and 4.06%‐4.21%, respectively. To calculate the organic porosity for the OM pores with diameters of 10‐900 nm, the formula derived from the mass‐volume‐density‐organic matter relationships and ØOMP/OM of shale was used, while the organic porosity for pores with diameters of 0.3‐10 nm was estimated using carbon dioxide and nitrogen adsorption data. In addition, the reasons for the differences in the OM pore structures in the Wufeng shale and Longmaxi Formation's first member shale were examined for the study area and found to be the result of variations in total organic carbon (TOC) content and tectonic compression of the Wufeng shale.
Protective effect of celastrol on type 2 diabetes mellitus with nonalcoholic fatty liver disease in mice
Authors: Sun JuanJuan , Wang Hui‐juan , Yu Jun , Li TingTing , Han YiDi
Published: October 2020

To investigate the protective effects of celastrol on mice with type 2 diabetes mellitus (T2DM) and nonalcoholic fatty liver disease (NAFLD), and to explore its underlying mechanism. The levels of low‐density lipoprotein cholesterol (LDL‐C), high‐density lipoprotein cholesterol (HDL‐C), total cholesterol (TC), and triglyceride (TG) in serum were tested. Malondialdehyde (MDA) and superoxide dismutase (SOD), GOT, and GPT in serum were also detected. The histopathological changes of liver tissues were observed by HE staining. The apoptosis cell number of liver tissues was measured by TUNEL staining. Nrf‐2 and HO‐1 protein and mRNA expression were evaluated by IHC, WB, and RT‐PCR assay. Celastrol had effects to depress TG, TC, LDL‐C, GPT, GOT, and MDA concentration and increase HDL‐C and SOD concentration (p < .05, respectively) with dose‐dependent. Compared with model group, apoptosis cell number was significantly depressed in Cel‐treated groups with dose‐dependent (p < .05, respectively). Nrf‐2 and HO‐1 mRNA and protein expressions were significantly improved in Cel‐treated groups with dose‐dependent (p < .05, respectively). Celastrol can inhibit the oxidative stress reaction and liver cell apoptosis via regulation Nrf2/HO‐1 pathway in T2DM mice with NAFLD.
Ukrainian early (pre‐1850) historical weather observations
Authors: Skrynyk Oleg , Luterbacher Jürg , Allan Rob , Boichuk Dmytro , Sidenko Vladyslav , Skrynyk Olesya , Palarz Angelika , Oshurok Dmytro , Xoplaki Elena , Osadchyi Volodymyr
Published: October 2020

In this paper, we describe the results of a climate data rescue (DARE) activity conducted at the Ukrainian Hydrometeorological Institute (Kyiv, Ukraine) in cooperation with the Justus Liebig University Giessen (Giessen, Germany), the World Meteorological Organization (WMO) and Met Office Hadley Centre (Exeter, United Kingdom). The focus of our work is on pre‐1850 sub‐daily meteorological observations conducted on the territory of modern Ukraine. Data from eight stations (stored in special hard copy tables/books, with handwritten records) have been digitized during the DARE process, resulting in 291,103 rescued values in total. More than half of this number (165,980, ~57%) are related to air temperature data, 124,376 data values (~42.7%) concern atmospheric pressure records and 747 values (~0.3%) are precipitation data. Simple quality control of the digitized data has been conducted, including an intercomparison between stations as well as comparison with monthly temperature data previously digitized from other paper sources. The quality control procedures revealed fairly good agreement between rescued time series on the monthly time scale as well as with the monthly data from independent sources. However, several periods for a few stations should be used with caution due to relatively large discrepancies that were found. The rescued digital database can be used for extreme value analysis for the pre‐1850 period in comparison with today's climate, regional climatological studies and will be used for future Reanalysis. In addition, for the first time, we show that subdaily temperature from Kyiv during 'the year without summer' 1816 in Western and Central Europe were not anomalous in this part of Eastern Europe.
Water‐soluble fraction of particulate matter <2.5 μm promoted lung epithelia cells apoptosis by regulating the expression of caveolin‐1 and Krüppel‐like factor 5
Authors: Wei Wei , Wang Yuan , Li Min , Yang Ming
Published: October 2020

Ambient fine particulate matter of <2.5 μm (PM2.5) has been linked to morbidity and mortality from respiratory and cardiovascular diseases. Lung epithelial cells bear the brunt of PM2.5 exposure. In the present study, we found that exposure of A549 cells to the water‐soluble fraction of PM2.5 (WS‐PM2.5) promoted the expression and internalization of caveolin‐1. Caveolin‐1 knockdown restrained the endocytosis of WS‐PM2.5. In addition, WS‐PM2.5 accumulation in the cells induced the phosphorylation of serine/threonine protein kinase B (AKT) and nuclear factor κ‐light‐chain enhancer of activated B cells (NFκB), as well as the expression of Krüppel‐like factor 5 (KLF5). Inhibiting activation of AKT and NFκB also partly reduced WS‐PM2.5 concentration in cells, but KLF5 knockdown did not affect the intracellular accumulation of WS‐PM2.5. KLF5 knockdown suppressed cytochrome P450 family 1 subfamily A member 1 (CYP1A1) expression and activated caspase 3. Luciferase reporter assay and chromatin immunoprecipitation assay showed that KLF5 positively regulated the transcription of KLF5. These results suggested that caveolin‐1 was required for the endocytosis of WS‐PM2.5. Intracellular accumulation of WS‐PM2.5 activated AKT and NFκB, which facilitated WS‐PM2.5 endocytosis. WS‐PM2.5 accumulation also induced KLF5 expression, increasing the transcriptional expression of CYP1A1, which contributed to activate caspase 3.
Advancements and future directions in the antibacterial wound dressings – A review
Authors: Bal‐Öztürk Ayça , Özkahraman Bengi , Özbaş Zehra , Yaşayan Gökçen , Tamahkar Emel , Alarçin Emine
Published: October 2020

Wound repair is a complex process that has not been entirely understood. It can conclude in several irregularities. Hence, designing an appropriate wound dressing that can accelerate the healing period is critical. Infections, a major obstacle to wound repair, cause an elevated inflammatory responses and result in ultimate outcome of incomplete and prolonged wound repair. To overcome these shortcomings, there is a growing requirement for antibacterial wound dressings. Dressings with antibacterial activities and multifunctional behaviors are highly anticipated to avoid the wound infection for successful healing. The aim of this review is not only to concentrate on the importance of antibacterial dressings for wound healing applications but also to discuss recent studies and some future perspectives about antibacterial wound dressings.
Interaction of graphene with antipsychotic drugs: Is there any charge transfer process?
Authors: del Castillo Roxana M. , Ramos Estrella , Martínez Ana
Published: October 2020

Antipsychotics represent an effective therapy for schizophrenia (a chronic mental disorder). Their benefits are related to the interaction of the drugs with dopamine D2 receptor (D2R). Antipsychotics are classified as agonists or antagonists. One of the working hypotheses is that there is a charge transfer process between the drugs and the receptors, which is different for agonists and antagonists. To have more insight into the nature of the interaction of these molecules and the differences between agonists and antagonists, we analyze the interaction of graphene with three molecules: dopamine, pramipexole (an agonist of dopamine), and risperidone (an antagonist of dopamine). The idea is to use graphene as a simple model to analyze the charge transfer process of these three drugs. Optimized structures, atomic charges, and Density of States results indicate that global charges of dopamine and pramipexole are similar, while for risperidone, it is more than double. Pramipexole is an agonist, and the charge transfer process is similar to that of dopamine. Risperidone is an antagonist, and the charge transfer process is different from dopamine. The charge transfer is more significant with risperidone than with dopamine, and this could be related to the mechanism of action. This is in agreement with the working hypotheses that establish that it is possible to distinguish between agonists and antagonists since they have different capacity to transfer charge.
Effect of the addition of nanoparticles of CaCO3 and different water‐to‐powder ratios on the physicochemical properties of white Portland cement
Authors: Teixeira Cleonice da Silveira , Wasielewsky Jessica Coelho , dos Santos Giovanna Slongo , Bernardi Anarela , Bortoluzzi Eduardo Antunes , Garcia Lucas da Fonseca Roberti
Published: October 2020

The addition of calcium carbonate nanoparticles (nano‐CaCO3) accelerates the hydration of Portland cement improving its mechanical properties. Conversely, nano‐CaCO3 addition leads to reduction in the water required during initial PC hydration. Therefore, the use of a correct water‐to‐powder ratio is fundamental for manipulating this hydraulic cement. This study evaluated the effect of nano‐CaCO3 addition and different water‐to‐powder ratios on the physicochemical properties of white Portland cement (WPC). WPC was associated to different concentrations of nano‐CaCO3, and the following experimental groups were created: G1a (no nano‐CaCO3); G2a (0.5% nano‐CaCO3), G3a (1% nano‐CaCO3), G4a (2% nano‐CaCO3), and G5a (5% nano‐CaCO3). The setting‐time (ST), compressive strength (CS), dimensional change (DC), solubility (S), and pH were assessed (24 hr and 30 days). Next, WPC + 5% nano‐CaCO3 was manipulated varying the water‐to‐powder ratio: G1b (WPC/0.33 ml); G2b (WPC/nano‐CaCO3/0.33 ml); G3b (WPC/0.29 ml); G4b (WPC/nano‐CaCO3/0.29 ml); G5b (WPC/0.26 ml); and G6b (WPC/nano‐CaCO3/0.26 ml). The tests were repeated. The data analysis (2‐way ANOVA and Tukey test, α = 5%) demonstrated that ST was shorter for samples containing nano‐CaCO3 (p < .05). Reduction in CS was observed for all groups at 30 days, except G5a, G2b, and G6b (p < .05). DC and S had no statistical difference among groups (p > .05) independently of nano‐CaCO3 water‐to‐powder ratio. After 30 days, there was significant reduction in pH for G3a and G6b (p < .05). The different concentrations of nano‐CaCO3 and water‐to‐powder ratios affected the physicochemical properties of WPC, especially the setting‐time and compressive strength.
Opportunistic detection of anal intraepithelial neoplasia at colonoscopy
Authors: Forbes Clara M , McCloskey Jenny , Forbes Geoffrey M
Published: October 2020

Background and Aim

Human papilloma virus‐associated anal intraepithelial neoplasia (AIN) precedes most anal cancers and can be detected at colonoscopy. We aimed to quantify AIN detection rates in a general population undergoing colonoscopy.

Methods

A retrospective review of a community‐based practice for 2 years until December 2019 was conducted.

Results

A total of 2525 patients (1051 males and 1474 females; median age 59 years) had 2608 colonoscopies. Ten patients (two males and eight females; median age 57.5 years) had incidentally detected AIN (condyloma acuminatum or AIN1, n = 4; AIN2 or 3, n = 6). AIN was detected in 1 of 261 (95% CI 1/142–1/480) colonoscopies and 1 of 163 (95% CI 1/83–1/321) colonoscopies in women over 40 years old.

Conclusions

Opportunistically detecting AIN, especially in women over 40 years old, should be an important adjunct to colonoscopy‐based colorectal neoplasia detection.
Adult secondary hemophagocytic lymphohistiocytosis
Authors: Obayo Antonina , Sharma Karishma , Mithi Caroline , Riyat Malkit , Mwirigi Anne
Published: October 2020

Background

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of excessive inflammation and tissue destruction due to abnormal immune activation. HLH carries a very high mortality, and while delays in patients’ presentation to hospital, time to suspicion of HLH, investigation, and initiation of therapy all play a part, mortality remains high even with timely diagnosis and treatment. Classical manifestations of HLH include persistent fever, cytopenias, and liver dysfunction.

Case presentation

We present four cases of secondary HLH, highlighting the demographic and clinical characteristics of these patients, underlying triggers (including systemic lupus erythematosus, lymphoproliferative disorders, and leishmaniasis), together with challenges associated with the diagnosis and treatment of this rare disorder and a brief review of literature.

Conclusion

HLH has protean manifestations and requires a high index of suspicion as it can be a great clinical masquerader. Mortality due to multiorgan failure is often high even with early recognition and treatment.
A critical analysis of the Model Statement literature: Should this tool be used in practice?
Authors: Porter Cody Normitta , Taylor Rachel , Salvanelli Giacomo
Published: October 2020

Investigators need to elicit detailed statements from interviewees to find potential leads, whilst simultaneously judging if a statement is genuine or fabricated. Researchers have proposed that the Model Statement (MS) can both (a) increase information elicitation from interviewees and (b) amplify the verbal differences between liars and truth tellers, thereby enhancing lie‐detection accuracy. Based upon a critical analysis of the MS literature, we argue that this tool is not currently ready for practical usage, as its utility has not been fully established. We highlight a diverse range of existing MS scripts, and a greater diversity in the dependent measures examined in conjunction with this tool. More robust replications of these procedures are needed. We also highlight why some measures of verbal content may not be suitable as outcome measures and suggest that new research could use the well‐established reality monitoring criteria to allow for standardisation across studies.
Challenges in the selection of atmospheric circulation patterns for the wind energy sector
Authors: Torralba Verónica , Gonzalez‐Reviriego Nube , Cortesi Nicola , Manrique‐Suñén Andrea , Lledó Llorenç , Marcos Raül , Soret Albert , Doblas‐Reyes Francisco J.
Published: October 2020

Atmospheric circulation patterns that prevail for several consecutive days over a specific region can have consequences for the wind energy sector as they may lead to a reduction of the wind power generation, impacting market prices or repayments of investments. The main goal of this study is to develop a user‐oriented classification of atmospheric circulation patterns in the Euro‐Atlantic region that helps to mitigate the impact of the atmospheric variability on the wind industry at seasonal timescales. Particularly, the seasonal forecasts of these frequencies of occurrence can be also beneficial to reduce the risk of the climate variability in wind energy activities. K‐means clustering has been applied on the sea level pressure from the ERA5 reanalysis to produce a classification with three, four, five and six clusters per season. The spatial similarity between the different ERA5 classifications has revealed that four clusters are a good option for all the seasons except for summer when the atmospheric circulation can be described with only three clusters. However, the use of these classifications to reconstruct wind speed and temperature, key climate variables for the wind energy sector, has shown that four clusters per season are a good choice. The skill of five seasonal forecast systems in simulating the year‐to‐year variations in the frequency of occurrence of the atmospheric patterns is more dependent on the inherent skill of the sea level pressure than on the number of clusters employed. This result suggests that more work is needed to improve the performance of the seasonal forecast systems in the Euro‐Atlantic domain to extract skilful forecast information from the circulation classification. Finally, this analysis illustrates that from a user perspective it is essential to consider the application when selecting a classification and to take into account different forecast systems.
A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation
Authors: Pace Nikolai Paul , Pace Bardon Michael , Borg Isabella
Published: October 2020

Background

Mutations in the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a rare autonomic nervous system dysfunction disorder characterized by a decreased ventilatory response to hypercapnia. Affected subjects develop alveolar hypoventilation requiring ventilatory support particularly during the non‐REM phase of sleep. In more severe cases, hypoventilation may extend into wakefulness. CCHS is associated with disorders characterized by the defective migration/differentiation of neural crest derivatives, including aganglionic megacolon or milder gastrointestinal phenotypes, such as constipation. Most cases of CCHS are de novo, caused by heterozygosity for polyalanine repeat expansion mutations (PARMs) in exon 3. About 10% of cases are due to heterozygous non‐PARM missense, nonsense or frameshift mutations.

Methods

We describe a three‐generation Maltese‐Caucasian family with a variable respiratory/Hirschsprung phenotype, characterized by chronic constipation, three siblings with Hirschsprung disease necessitating surgery, chronic hypoxia, and alveolar hypoventilation requiring non‐invasive ventilation.

Results

The sequencing of PHOX2B revealed a novel heterozygous c.241+2delT splice variant in exon 1 that segregates with the CCHS/Hirschsprung phenotype in the family. The mutation generates a non‐functional splice site with a deleterious effect on protein structure and is pathogenic according to ACMG P VS1, PM2, and PP1 criteria.

Conclusion

This report is significant as no PHOX2B splice‐site mutations have been reported. Additionally, it highlights the variability in clinical expression and disease severity of non‐PARM mutations.
Muscle ultrasound: Present state and future opportunities
Authors: Wijntjes Juerd , van Alfen Nens
Published: October 2020

Muscle ultrasound is a valuable addition to the neuromuscular toolkit in both the clinic and research settings, with proven value and reliability. However, it is currently not fulfilling its full potential in the diagnostic care of patients with neuromuscular disease. This review highlights the possibilities and pitfalls of muscle ultrasound as a diagnostic tool and biomarker, and discusses challenges to its widespread implementation. We expect that limitations in visual image interpretation, posed by user inexperience, could be overcome with simpler scoring systems and the help of deep‐learning algorithms. In addition, more information should be collected on the relation between specific neuromuscular disorders, disease stages, and expected ultrasound abnormalities, as this will enhance specificity of the technique and enable the use of muscle ultrasound as a biomarker. Quantified muscle ultrasound gives the most sensitive results but is hampered by the need for device‐specific reference values. Efforts in creating dedicated muscle ultrasound systems and artificial intelligence to help with image interpretation are expected to improve usability. Finally, the standard inclusion of muscle and nerve ultrasound in neuromuscular teaching curricula and guidelines will facilitate further implementation in practice. Our hope is that this review will help in unleashing muscle ultrasound's full potential.
A key agreement protocol based on group actions
Authors: Çağman Abdullah , Polat Kadirhan , Taş Sait
Published: October 2020

The key agreement scheme is an important part of the cryptography theory. The first study in this field belongs to Diffie–Hellman and Merkle. We present a new key agreement scheme using a group action of special orthogonal group of 2 × 2 matrices with real entries on the complex projective line.
Isotopic evidence of possible long‐distance freshwater fish trade in the 13th to 14th century Chełm, modern Poland
Authors: Fetner Rafał A. , Iwaszczuk Urszula
Published: October 2020

The Middle Ages in the Polish Plain saw an increase in fish consumption as it substituted meat during Lent and other meatless days, approximately one third of the year, due to religious restrictions. Demand for fish stimulated the market. Fish trade and distribution can be easily reconstructed regarding marine species; however, freshwater taxa evade such reconstructions. Modern analytical tools, such as stable isotope analysis, can distinguish freshwater fish inhabiting brackish water typical of estuaries from individuals occupying inland water reservoirs. In this study, carbon and nitrogen stable isotope analysis was conducted for fish remains excavated from mid‐13th to 14th century residential complex from Wysoka Górka at Chełm, modern Poland. Samples of 16 individuals representing nine taxa met the collagen quality criteria. Half of the individuals expressed δ13C values typical of marine environment: four sturgeons (Acipenser oxyrinchus), two catfishes (Silurus glanis), a pike (Esox lucius) and a bream (Abramis brama). Such values are expected for sturgeon, an anadromous fish, but not typical for freshwater taxa from the sites deep inland, like Chełm. The results are discussed whether freshwater fish are of local origin, migrated in the area of Chełm, or were item of trade, probably from the Baltic coast (approximately 450 km); however, the presence of carp (Cyprinus carpio) may indicate the basin of the Black Sea.
Kinetics of D,L–Lactide Polymerization Initiated with Zirconium Acetylacetonate
Authors: Kalinin Kirill T. , Sedush Nikita G. , Dmitryakov Petr V. , Chvalun Sergei N.
Published: October 2020

The kinetic of D,L‐lactide polymerization in presence of biocompatible zirconium acetylacetonate initiator was studied by differential scanning calorimetry in isothermal mode at various temperatures and initiator concentrations. The enthalpy of D,L‐lactide polymerization measured directly in DSC cell was found to be ΔH=−17.8±1.4 kJ mol−1. Kinetic curves of D,L‐lactide polymerization and propagation rate constants were determined for polymerization with zirconium acetylacetonate at concentrations of 250–1000 ppm and temperature of 160–220 °C. Using model or reversible polymerization the following kinetic and thermodynamic parameters were calculated: activation energy Ea=44.51±5.35 kJ mol−1, preexponential constant lnA=15.47±1.38, entropy of polymerization ΔS=−25.14 J mol−1 K−1. The effect of reaction conditions on the molecular weight of poly(D,L‐lactide) was shown.
In situ encapsulation technique for fabrication of self‐healing thermosetting polyurethane with tungsten (VI) chloride
Authors: Amini‐Nejad Reza , Ghasemi‐Ghalebahman Ahmad , Fereidoon Abdoulhossein , Golshan‐Ebrahimi Nadereh
Published: October 2020

Polymeric composites as materials with special engineering structure and favorable properties are widely used in different industries. The concept of self‐healing in polymers, inspired by biological systems, has been introduced in recent years. Growing applications of thermosetting polyurethanes have also resulted in their extensive use in engineering applications. There are various methods for self‐healing mechanisms, one of which involves microcapsules containing healing agents. Given that the most past research on encapsulation‐based methods carried out for self‐healing epoxy resins, the present work aims to develop the in situ technique and examine the healing efficiency for thermosetting polyurethanes due to their wide variety of applications. To do so, urea–formaldehyde microcapsules, 73 μm in average diameter containing dicylopentadiene as the healing agent, phenylacetylene as the coactivator, and nonylphenol as the dissolution agent were synthesized using in situ polymerization technique. Tungsten (VI) chloride catalyst was used for the implementation of ring‐opening metathesis polymerization. The sizes of microcapsules were measured using optical microscopes, and surface morphology and shell‐wall thickness of microcapsules were examined using FESEM. The healing efficiency was calculated using samples with tapered double‐cantilever beam (TDCB) geometry. Moreover, the impact of adding microcapsules as well as catalyst on mechanical properties of polyurethane resin was studied.
Patterns of opioid use in older people diagnosed with cancer in New South Wales, Australia
Authors: Tervonen Hanna E , Schaffer Andrea L , Luckett Tim , Phillips Jane , Litchfield Melisa , Todd Adam , Pearson Sallie‐Anne
Published: October 2020

Purpose

Opioids provide effective analgesia for most cancer patients, but little is known about individual‐level opioid use after cancer diagnosis. We examined the patterns of and factors associated with opioid use in older people diagnosed with cancer.

Methods

We used the Department of Veterans' Affairs (DVA) client data linked with the New South Wales (NSW) Cancer Registry and the Repatriation Pharmaceutical Benefits Scheme data. We included people aged ≥65 years diagnosed with cancer in NSW, Australia in 2005 to 2015. We examined patterns of opioid use in the 12 months after cancer diagnosis and used cause‐specific hazards models to examine factors associated with opioid use.

Results

Of 13 527 people diagnosed with cancer, 51% were dispensed opioids after their diagnosis. We observed the highest proportions of use in people diagnosed with pancreas, liver, or lung cancers. Opioid use was associated with female sex, younger age, more advanced degree of cancer spread, opioid use before cancer diagnosis, and multimorbidity. Forty‐four percentages of all people dispensed opioids had a history of opioid use in the 12 months before their cancer diagnosis; these people had higher median number of different opioids and opioid dispensings, and a shorter time to first opioid dispensing than opioid‐naive people.

Conclusion

Our study suggests that many older cancer patients were dispensed opioids before their cancer diagnosis. Previously opioid‐treated people had more intense opioid use patterns after diagnosis than opioid‐naïve people. Acknowledging the history of opioid use is important as it may complicate pain treatment in clinical practice.
Effects of a long‐term exercise program on motor performance in children and adolescents with CF
Authors: Gruber Wolfgang , Stehling Florian , Olivier Margarete , Dillenhoefer Stefanie , Koerner‐Rettberg Cordula , Sutharsan Sivagurunathan , Taube Christian , Mellies Uwe , Welsner Matthias
Published: October 2020

Objectives

The aim of this study was to examine motor performance and trainability in youths with cystic fibrosis (CF).

Methods

Twenty‐two children and adolescents (11 f/11 m), age range 6–17 years (11.3 ± 3.3 years), mean FEV1 91.0 ± 21.7% pred.finished the partially monitored 12‐months exercise program. Patients performed the Deutsche Motorik Test (DMT) to assess flexibility, balance, strength, power and totalmotor performance. An incremental ergometer cycle test was used to assess maximal exercise capacity (Wpeak). All tests were performed before (T1), after 6 months of monitored exercise training (T3) and another 6 months without monitoring (T4).

Results

Motor Competence in total and test‐items of the DMT (except foreward bend) improved to T3 (p < .05). No further improvement could be observed after the end of the monitoring (T3). However, the values remained stable at the improved level (T4). Girls scored lower in test items depending on strength/power but scored higher in balancing compared to boys (p > .05). Wpeak and FEV1 were not influenced by the training program. From T3 to T4 a slight decrease was observed (p ≤ .05).

Conclusions

The findings demonstrate benefits of an individualizedmonitored long‐term exercise intervention on motor performance in CF with improvements of test‐tasks to predicted normal. Monitoringseems to be a facilitator in maintaining motivation toward physical activity as no further increase in motor performance was observed after stopping supervision. The results suggest that an individually tailored monitoredregular exercise program should include all aspects of physical fitness with a variety of movement experiences.
Estimating optimal localization for sampled background‐error covariances of hydrometeor variables
Authors: Destouches Mayeul , Montmerle Thibaut , Michel Yann , Ménétrier Benjamin
Published: October 2020

Kilometre‐scale numerical weather prediction addresses the challenge of forecasting accurately clouds and precipitation. Ensemble‐based data assimilation methods make use of background‐error covariances that are sampled from an ensemble of forecasts. These methods can be considered in order to include hydrometeor variables and their flow‐dependent error covariances in the data assimilation system. Yet, because of limited ensemble size, rank deficiency of the resulting covariances and sampling noise occur, which can be mitigated by a localization procedure. In order to optimally localize covariances for hydrometeor variables, previous work by the authors has been extended. This approach estimates localization as a linear filtering on covariances, optimal in the sense of minimizing sampling noise. The zero‐variance and the high spatial variability issues met with hydrometeor variables are addressed by using an improved method for spatial sampling, based on geographical masks. Diagnosed optimal horizontal localization lengths appear to be much shorter for hydrometeors than for other classical thermodynamic variables. Conversely, we report optimal vertical localization to be very broad for precipitating species. Great variability between different meteorological situations has also been noticed, which reflects the high flow dependency of hydrometeor forecast errors. This suggests that ensemble‐based data assimilation schemes that consider hydrometeors as control variables should adopt more refined localization schemes than the common “one‐size‐fits‐all” approach.
Coherently Manipulated 2D Ion Crystal in a Monolithic Paul Trap
Authors: Wang Ye , Qiao Mu , Cai Zhengyang , Zhang Kuan , Jin Naijun , Wang Pengfei , Chen Wentao , Luan Chunyang , Du Botao , Wang Haiyan , Song Yipu , Yum Dahyun , Kim Kihwan
Published: October 2020

Using a 2D ion crystal for quantum simulation and computation has been pursued for a long time. The coherent manipulation of a stationary 2D crystal in the Paul trap may be hampered by the micromotion synchronous with the oscillating electric field. Here, a simple Paul trap that stably confines over 20 ions in a stationary 2D crystal is presented. The disturbance of the micromotion in coherent operations is mitigated by making the direction of micromotion perpendicular to the transverse direction of the 2D crystal. To achieve the condition of perpendicularity, the structure of the trap electrodes is comprehensively designed, which also provides the controllability of rotating principal axes. The transverse vibrational modes by Raman laser‐beams are addressed and coherent evolution of sideband transitions on these modes observed. Moreover, this trap allows for optical access with a 0.86 numerical aperture which facilitates applying individually addressing laser‐beams. This work can be an example of realizing a 2D‐trapped‐ion based quantum simulator and computer in a Paul trap.
Pentafluorobenzylation and detection of sodium monofluoroacetate (compound 1080) in veterinary samples using gas chromatography/tandem quadrupole mass spectrometry with multiple reaction monitoring
Authors: Buchweitz John P. , Johnson Margaret , Lehner Andreas F.
Published: October 2020

Rationale

The analytical detection of chemical residues from sodium monofluoroacetate (MFA) ingestion in targeted predatory wildlife and in pesticide misuse incidents perpetrated against nuisance companion animals remains a concern in veterinary forensic toxicology. There is a current need for chemically stable sample extracts with reliable and specific diagnostic methods for trace quantities in diverse diagnostic matrices.

Methods

Biphasic pentafluorobenzylation provided a simple combined extraction and derivatization procedure for removing MFA in a chemically stable form from a complex matrix such as stomach contents. Analysis of the derivatized extract using gas chromatography/tandem quadrupole mass spectrometry (GC/MS/MS) with multiple reaction monitoring (MRM) approaches specific to MFA provided greater specificity than simple scan or selected ion monitoring approaches.

Results

Collision‐induced dissociation in GC/MS/MS showed that pentafluorobenzyl (PFB)‐derivatized MFA (M+ m/z 258) generated m/z 258➔130, 149, 161, 177, 178, 180.1, and 181.1 transitions. Of these, the transition m/z 258➔181 provided a peak for quantitation, whereas m/z 258➔161 and 258➔178 provided specificity for qualifying MFA. Similarly, PFB‐derivatized 2‐chloropropionic acid (M+ m/z 288) was used as an internal standard, which generated m/z 288➔181 and 161. Of these, the transition m/z 288➔181 provided a peak for quantitation, whereas m/z 288➔161 and 181➔161 served to qualify the internal standard.

Conclusions

The method was validated with a calculated limit of detection of 0.35 ppm and limit of quantitation of 1.09 ppm MFA. The method should have adequate sensitivity and reliability for veterinary toxicology labs analyzing specimens from animals poisoned by this predacide.