bluuebunny/crossref_metadata_2025_split huggingface dataset:
Grandparental genotyping enhances exome variant interpretation
Authors: Daum Hagit , Mor‐Shaked Hagar , Ta‐Shma Asaf , Shaag Avraham , Silverstein Shira , Shohat Mordechai , Elpeleg Orly , Meiner Vardiella , Harel Tamar 
Published: February 2020

AbstractTrio exome sequencing is a powerful tool in the molecular investigation of monogenic disorders and provides an incremental diagnostic yield over proband‐only sequencing, mainly due to the rapid identification of de novo disease‐causing variants. However, heterozygous variants inherited from unaffected parents may be inadvertently dismissed, although multiple explanations are available for such scenarios including mosaicism in the parent, incomplete penetrance, imprinting, or skewed X‐inactivation. We report three probands, in which a pathogenic or likely pathogenic variant was identified upon exome sequencing, yet was inherited from an unaffected parent. Segregation of the variants (in NOTCH1, PHF6, and SOX10) in the grandparent generation revealed that the variant was de novo in each case. Additionally, one proband had skewed X‐inactivation. We discuss the possible genetic mechanism in each case, and urge caution in data interpretation of exome sequencing data. We illustrate the utility of expanding segregation studies to the grandparent generation and demonstrate the impact on exome interpretation strategies, by showing that objective genotype data can overcome subjective parental report of lack of symptoms.
A weight‐of‐evidence approach for defining thermal sensitivity in a federally endangered species
Authors: Galbraith Heather S. , Blakeslee Carrie J. , Spooner Daniel E. , Lellis William A. 
Published: February 2020

AbstractManaging for threatened and endangered species under changing environmental conditions is a challenge faced by resource managers worldwide. Lack of basic knowledge of the biology and habitat requirements of these species can contribute to this difficulty but is exacerbated by the limitations of working with rare species (i.e. few individuals) or unrefined and non‐lethal methods for evaluating stress.A weight‐of‐evidence approach was used to evaluate the thermal biology of the federally endangered dwarf wedgemussel (Alasmidonta heterodon), using cumulative results from multiple experimental assessments, co‐occurring species, and their host fish to begin defining the thermal limits and optimal conditions for the species.Results suggest that dwarf wedgemussel and its host fish are thermally sensitive species compared with other Atlantic‐slope mussels, with a lower critical thermal maximum (CTM) and the selection of reduced temperatures during choice experiments.Physiological studies resulted in a lack of statistical significance, primarily owing to low power, which was a function of sample size – an unavoidable problem when studying rare species. Given these limitations, thermal choice and CTM may be more useful end points than physiological processes such as clearance and respiration rates when dealing with sample‐size limitations.These results suggest that management strategies that avoid exposing dwarf wedgemussel and its thermally sensitive host fish to extreme temperatures could be important for species conservation.
Rise of the intensity of interstellar CH+ in the spectrum of AE Aur
Authors: Krełowski Jacek , Galazutdinov Gazinur A. , Bondar Arkadii 
Published: February 2020

AbstractUsing many spectra of the star AE Aur (HD 34078), covering the period 1997–2019, we demonstrate temporal variations of the intensities of spectral features carried by simple interstellar radicals. The drop of the CH+ and CH line intensities was demonstrated by Krełowski et al. (2016)—Paper I. More recent data suggest that the CH+ interstellar lines reach the minimum of intensity in 2015–2016 being then followed by the evident rise, which continues. The intensities of CH lines show a similar drop to CH+. However, the further (after 2016) rise seems marginal if any. Thus, the CH+ features grow since 2016 while those of CH remain almost constant, likely due to the fact that both species are formed in different environments. No variations in the radial velocities of the observed interstellar features were detected during the whole covered time period.
Insulin‐like growth factor‐II and bioactive proteins containing a part of the E‐domain of pro‐insulin‐like growth factor‐II
Authors: van Doorn Jaap 
Published: February 2020

AbstractInsulin‐like growth factor (IGF)‐II is considered to function as an important fetal growth factor, which is structurally and functionally related to IGF‐I and proinsulin. At least in vitro, IGF‐II actions are mediated through the IGF‐I receptor and to a lesser extent the insulin receptor. After birth, the function of IGF‐II is less clear although in adults the serum level of IGF‐II exceeds that of IGF‐I several fold. The IGF‐II gene is maternally imprinted, with exception of the liver and several parts of the brain, where it is expressed from both alleles. The regulation, organization, and translation of the IGF‐II gene is complex, with five different putative promotors leading to a range of noncoding and coding mRNAs. The 180‐amino acid pre‐pro‐IGF‐II translation product can be divided into five domains and include a N‐terminal signal peptide of 24 amino acid residues, the 67 amino acid long mature protein, and an 89 residues extension at the COOH terminus, designated as the E‐domain. After removal of the signal peptide, the processing of pro‐IGF‐II into mature IGF‐II requires various steps including glycosylation of the E‐domain followed by the action of endo‐proteases. Several of these processing intermediates can be found in the human circulation. There is increasing evidence that, besides IGF‐II, several incompletely processed precursor forms of the protein, and even a 34‐amino acid peptide (preptin) derived from the E‐domain of pro‐IGF‐II, exhibit distinct biological activities. This review will focus on the current insights regarding the specific roles of the latter proteins in cancer, glucose homeostasis, and bone physiology. To address this topic clearly in the right context, a concise overview of the biological and biochemical properties of IGF‐II and several relevant aspects of the IGF system will be provided.
A narrative review of research on clinical responses to the problem of sexual offenses in the last decade
Authors: Ly Thanh , Fedoroff J. Paul , Briken Peer 
Published: February 2020

AbstractResearch on the treatment and programs for people who have committed sexual offenses has greatly increased in the past decade. The aim of this review is to discuss research that has been published over that period (2010–2019) that is relevant for treatment providers. The articles included in this review were found through PsycINFO and PubMed (Medline) using the keywords “treatment or therapy” and “sex offen*”. The inclusion criteria were publications that discuss treatment of persons who have committed sexual offenses (written in the English language only). Any articles that examined only special populations were excluded, such as those that examined persons who committed sexual offenses who were female, had intellectual disabilities, deafness, juveniles, etc., because these groups will likely have needs and responsivity factors that differ from the “average” natal‐born male sex offender. Results showed that several meta‐analyses indicate that treatment is effective in reducing sexual recidivism. The most frequently used treatment for sex offenders is cognitive behavioral therapy, which is often provided in conjunction with pharmacological treatment to reduce sexual impulsivity and/or sex drive. This review is limited to the specific key search terms. The findings of this review support the use of treatment and a community reintegration approach when treating persons who have committed sexual crimes to prevent sexual recidivism.
Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray
Authors: Drozniewska Malgorzata , Kilby Mark D. , Vogt Julie , Togneri Fiona , Quinlan‐Jones Elizabeth , Reali Lisa , Allen Stephanie , McMullan Dominic 
Published: February 2020

AbstractNager syndrome is a rare, complex malformation syndrome, for which there is limited information on prenatal genetic testing. Clinical diagnosis of Nager syndrome, which can be caused by deletions encompassing SF3B4 gene, is possible prenatally. Prenatal chromosomal microarray can aid genotype‐phenotype correlation in pregnancies with structural abnormalities seen on ultrasound.
Crohn's disease of the vulva: A tough diagnosis (a case report of a 47 y.o. patient)
Authors: Bondarenko Karina R. , Dobrokhotova Yulia E. , Rumyantseva Tatiana A. , Nasyrova Nailya I. 
Published: February 2020

AbstractExtraintestinal symptoms of Crohn's disease may occur in the eye, the urinary system, on the skin, or subcutaneous fat. We report the case of a 7‐year diagnostic search of isolated vulvar Crohn's disease in a 47‐year‐old woman. The disease is characterized by gradual formation of pronounced bilateral asymmetric labial hypertrophy.
Controlled preparation of silicon and magnesium silicide on silica glass substrate through magnesiothermic reduction
Authors: Henmi Takashi , Shiono Takeshi , Matsubara Keisuke , Kiyomura Tsutomu , Kurata Hiroki , Wakasugi Takashi , Okada Arifumi , Kadono Kohei 
Published: February 2020

AbstractMagnesiothermic reduction has received attention as a method to produce silicon retaining the morphology of the silicon dioxides that serve as the starting materials of the reduction. We performed the reduction of silica glass substrates with magnesium deposited on them under various conditions, including changing the reaction temperature from 500 to 700°C, changing the reaction time from 15 to 420 minutes, and changing the thickness of the deposited magnesium film from 6.6 to 12.1 μm. Crystalline products and their amounts were investigated using X‐ray diffraction. In these reactions, the silica glass substrates were reduced to silicon and/or magnesium silicide depending on the conditions. Under the conditions where the reaction temperature is higher, the reaction time is longer, and the thickness of the magnesium is thinner, silicon was generated more predominantly than magnesium silicide, and vice versa. Under the intermediate conditions, both crystalline silicon and magnesium silicide were generated. Furthermore, it was revealed that the magnesium silicide was rapidly generated within 15 minutes at temperatures higher than 600°C. Then, as the reaction continued, the amount of magnesium silicide gradually decreased, and that of silicon increased. From these results, a two‐step reaction model was proposed: At first, silicon dioxide is reduced to magnesium silicide with the complete consumption of the deposited magnesium; and subsequently, the magnesium silicide reacts with unreacted silicon dioxide and silicon in the intermediate oxidation states to produce silicon. Based on this model, silicon and magnesium silicide were selectively prepared under well‐controlled conditions.
Defect Engineering for Photocatalysis: From Ternary to Perovskite Oxynitrides
Authors: Brown Joshua J. , Ke Zhuofeng , Ma Tianyi , Page Alister J. 
Published: February 2020

AbstractExploiting defects and specific anion non‐stoichiometry in mixed‐anion semiconductors is a challenge that remains at the forefront of photocatalytic and photoelectrochemical water splitting research. The interplay between of oxygen and nitrogen defects in perovskite oxynitrides specifically creates exciting, yet complex, opportunities for optimizing phase stability, ionic conduction and anion order in these materials. In this Minireview we highlight the recent advances in defect engineering in oxynitride semiconductors, such as anion content/non‐stoichiometry, surface modification, cation doping and formation of anisotropic layered structures, on photocatalytic and photoelectrochemical water splitting. Avenues warranting further investigation are discussed.
Reciprocal transplantation of the heterotrophic coral Tubastraea coccinea (Scleractinia: Dendrophylliidae) between distinct habitats did not alter its venom toxin composition
Authors: Kitahara Marcelo V. , Jaimes‐Becerra Adrian , Gamero‐Mora Edgar , Padilla Gabriel , Doonan Liam B. , Ward Malcolm , Marques Antonio C. , Morandini André C. , Long Paul F. 
Published: February 2020

AbstractTubastraea coccinea is an azooxanthellate coral species recorded in the Indian and Atlantic oceans and is presently widespread in the southwestern Atlantic with an alien status for Brazil. T. coccinea outcompete other native coral species by using a varied repertoire of biological traits. For example, T. coccinea has evolved potent venom capable of immobilizing and digesting zooplankton prey. Diversification and modification of venom toxins can provide potential adaptive benefits to individual fitness, yet acquired alteration of venom composition in cnidarians is poorly understood as the adaptive flexibility affecting toxin composition in these ancient lineages has been largely ignored. We used quantitative high‐throughput proteomics to detect changes in toxin expression in clonal fragments of specimens collected and interchanged from two environmentally distinct and geographically separate study sites. Unexpectedly, despite global changes in protein expression, there were no changes in the composition and abundance of toxins from coral fragments recovered from either site, and following clonal transplantation between sites. There were also no apparent changes to the cnidome (cnidae) and gross skeletal or soft tissue morphologies of the specimens. These results suggest that the conserved toxin complexity of T. coccinea co‐evolved with innovation of the venom delivery system, and its morphological development and phenotypic expression are not modulated by habitat pressures over short periods of time. The adaptive response of the venom trait to specific predatory regimes, however, necessitates further consideration.
Small fish, large river: Surprisingly minimal genetic structure in a dispersal‐limited, habitat specialist fish
Authors: Washburn Brooke A. , Cashner Mollie F. , Blanton Rebecca E. 
Published: February 2020

AbstractGenetic connectivity is expected to be lower in species with limited dispersal ability and a high degree of habitat specialization (intrinsic factors). Also, gene flow is predicted to be limited by habitat conditions such as physical barriers and geographic distance (extrinsic factors). We investigated the effects of distance, intervening pools, and rapids on gene flow in a species, the Tuxedo Darter (Etheostoma lemniscatum), a habitat specialist that is presumed to be dispersal‐limited. We predicted that the interplay between these intrinsic and extrinsic factors would limit dispersal and lead to genetic structure even at the small spatial scale of the species range (a 38.6 km river reach). The simple linear distribution of E. lemniscatum allowed for an ideal test of how these factors acted on gene flow and allowed us to test expectations (e.g., isolation‐by‐distance) of linearly distributed species. Using 20 microsatellites from 163 individuals collected from 18 habitat patches, we observed low levels of genetic structure that were related to geographic distance and rapids, though these factors were not barriers to gene flow. Pools separating habitat patches did not contribute to any observed genetic structure. Overall, E. lemniscatum maintains gene flow across its range and is comprised of a single population. Due to the linear distribution of the species, a stepping‐stone model of dispersal best explains the maintenance of gene flow across its small range. In general, our observation of higher‐than‐expected connectivity likely stems from an adaptation to disperse due to temporally unstable and patchy habitat.
Management of heart failure with reduced ejection fraction in Europe: design of the ARIADNE registry
Authors: Zeymer Uwe , Clark Andrew L. , Barrios Vivencio , Damy Thibaud , Drożdż Jaroslaw , Fonseca Candida , Lund Lars H. , Di Comite Gabriele , Hupfer Stephan , Maggioni Aldo P. 
Published: February 2020

AbstractAimsThe introduction of sacubitril/valsartan (an angiotensin receptor–neprilysin inhibitor) is likely to change the approach to the management of patients with chronic heart failure with reduced ejection fraction (HFrEF). The Assessment of Real Life Care–Describing European Heart Failure Management (ARIADNE) registry will evaluate patient characteristics, practice patterns, outcomes, and healthcare resource utilization in the outpatient setting across Europe, with the main focus on factors that guide physicians' decisions to start and continue sacubitril/valsartan in patients with HFrEF.Methods and resultsARIADNE, a prospective, observational registry will enrol 9000 ambulatory patients with HFrEF in 23 European countries . The study will describe 4500 patients treated with conventional treatment (including an angiotensin‐converting enzyme inhibitor/angiotensin receptor blocker), and 4500 patients started on sacubitril/valsartan. In each country, patients will be enrolled consecutively over an expected period of 12 months, and followed‐up for 12 months. The primary objective is to describe the baseline clinical and demographic characteristics of patients with chronic HFrEF, which guide the decision of the treating physician to initiate sacubitril/valsartan or to continue conventional treatment. A co‐primary objective is to identify the baseline characteristics that are associated with the likelihood of reaching the target dose of sacubitril/valsartan 97/103 mg twice daily during follow‐up.ConclusionsThe ARIADNE registry will provide a comprehensive profile of patients with chronic HFrEF in Europe, will elucidate how management varies between countries, and will help clarify the usage and outcomes associated with use of sacubitril/valsartan in real life.
Gochujang prepared using rice and wheat koji partially alleviates high‐fat diet‐induced obesity in rats
Authors: Son Hee‐Kyoung , Shin Hye‐Won , Jang Eun‐Seok , Moon Byoung‐Seok , Lee Choong Hwan , Lee Jae‐Joon 
Published: February 2020

AbstractThe aim of this study was to compare whether gochujang products prepared using giant embryo rice koji (rice gochujang, RG) and wheat koji (wheat gochujang, WG) have anti‐obesity effects on rats fed a high‐fat diet (HFD), who served as a model for obesity. The nutritional composition of RG and WG including proximate constituents, amino acid and fatty acid compositions were investigated. Consequently, the secondary fermented metabolites were analyzed in RG and WG by ultrahigh‐performance liquid chromatography and mass spectrometry. Rats were fed a HFD containing 10% RG powder (HFD‐RG) or 10% WG powder (HFD‐WG) for 8 weeks. Body weight gain, weights of liver, epididymal, retroperitoneal, perirenal, and total white fat pads, and levels of serum triglyceride (TG), total cholesterol, low‐density lipoprotein cholesterol, and leptin were lower in all gochujang groups than in the HFD group. Furthermore, RG and WG treatment decreased the hepatic TG content and lipid accumulation and significantly reduced the size of epididymal adipocytes. These effects are probably mediated through inhibition of hepatic fatty acid synthase, acetyl CoA carboxylase, malic enzyme, and adipose tissue lipoprotein lipase activities. The anti‐obesity effect was slightly greater in the HFD‐RG group than in the HFD‐WG group. This effect may be attributed to secondary metabolites, such as capsaicin, genistein, daidzein, soyasaponin, and lysophosphatidylcholines, contained in gochujang prepared using giant embryo rice or wheat koji.
Schwann cells: Rescuers of central demyelination
Authors: Garcia‐Diaz Beatriz , Baron‐Van Evercooren Anne 
Published: February 2020

AbstractThe presence of peripheral myelinating cells in the central nervous system (CNS) has gained the neurobiologist attention over the years. Despite the confirmed presence of Schwann cells in the CNS in pathological conditions, and the long list of their beneficial effects on central remyelination, the cues that impede or allow Schwann cells to successfully conquer and remyelinate central axons remain partially undiscovered. A better knowledge of these factors stands out as crucial to foresee a rational therapeutic approach for the use of Schwann cells in CNS repair. Here, we review the diverse origins of Schwann cells into the CNS, both peripheral and central, as well as the CNS components that inhibit Schwann survival and migration into the central parenchyma. Namely, we analyze the astrocyte‐ and the myelin‐derived components that restrict Schwann cells into the CNS. Finally, we highlight the unveiled mode of invasion of these peripheral cells through the central environment, using blood vessels as scaffolds to pave their ways toward demyelinated lesions. In short, this review presents the so far uncovered knowledge of this complex CNS‐peripheral nervous system (PNS) relationship.
The properties of human Schwann cells: Lessons from in vitro culture and transplantation studies
Authors: Monje Paula V. 
Published: February 2020

AbstractHuman Schwann cells (hSCs) can be isolated directly from peripheral nerve and cultured using methods similar to those used for SCs from other species. Yet, important interspecies differences are revealed when the primary or expanded hSCs are compared to their nonhuman counterparts. This review addresses the special properties of nerve‐derived hSCs that have resulted to date from both in vitro studies and in vivo research on cell transplantation in animal models and human subjects. A consensus has yet to emerge about the essential attributes of cultured normal hSCs. Thus, an emphasis is placed on the importance of validating hSC cultures by means of purity, identity, and biological activity to reliably use them as in vitro models of the SC phenotype and cell therapy products for injury repair. Combining traditional immunological methods, high‐resolution omics approaches, and assorted cell‐based assays is so far the best approach to unequivocally identify hSC populations obtained by direct isolation or derivation from stem cells. Special considerations are required to understand and manage the variability and heterogeneity proper of donor batches, as well as to evaluate risk factors. This is particularly important if the intended use of the hSCs is implantation in the human body, diagnosis of disease, or drug testing aimed at targeting any aspect of SC function in human patients. To conclude, in view of their unique properties, new concepts and methods are needed to better understand the biology of hSCs and exploit their full potential in basic science and regenerative medicine.
Fe‐porphyrin on Co(001) and Cu(001): A Comparative Dispersion‐augmented Density Functional Theory Study
Authors: Azuri Ido , Ali Md. Ehesan , Tarafder Kartick , Oppeneer Peter M. , Kronik Leeor 
Published: February 2020

AbstractWe present a comparative density functional theory (DFT) investigation of the interaction of the iron porphyrin (FeP) molecule with the metallic Co(001) and Cu(001) surfaces, with the aim of elucidating the effect of different choices for the treatment of dispersion. We compare a GGA+U approach, several flavors of dispersion‐augmented terms, and two variants of the vdW‐DF approach, which treats long‐range correlation explicitly. For the Co surface, we find that all approaches predict chemisorption and a high‐spin state, although vdW‐DF functionals generally predict weaker bonds and weaker chemisorption. For the Cu surface, we find that the functionals augmented by pair‐wise dispersion once again predict chemisorption and a preferred HS state, but the vdW‐DF functionals predict physisorption and a LS state. These results demonstrate the importance of careful assessment of the level of theory at which dispersion is treated, as this may have significant quantitative and even qualitative effects on the predictions made. The results also call for additional experimental data for these systems.