bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation spectrum and genotype‐phenotype correlation of inherited retinal dystrophy in Taiwan
Authors: Chen Zhen‐Ji , Lin Keng‐Hung , Lee Shi‐Huang , Shen Ren‐Juan , Feng Zhuo‐Kun , Wang Xiao‐Fang , Huang Xiu‐Feng , Huang Zhi‐Qin , Jin Zi‐Bing 
Published: December 2019

AbstractBackgroundInherited retinal dystrophy (IRD) is a group of irreversible retinal degenerative disorders with significant genotypic and phenotypic heterogeneity, which cause difficulty in making a precise clinical diagnosis. Furthermore, the mutation spectrum of IRD in Taiwan remains unknown. Therefore, our study focused on investigating the spectrum of mutations among Taiwanese families with IRD using targeted exome sequencing (TES) technology.MethodsWe recruited a total of 60 unrelated Taiwanese families with IRD; most of them were retinitis pigmentosa. We employed TES to investigate 284 candidate genes. Bioinformatics analysis, Sanger sequencing‐based co‐segregation testing, and computational assessment were performed to validate each mutation and its pathogenicity. The genotype‐phenotype correlation was analysed in all patients with mutations defined in the guidelines provided by the American College of Medical Genetics.ResultsWe successfully identified genetic causes in 32 families (detection rate of 53.3%). Among them, 16 had a sporadic inheritance (16/36, 44.4%); eight had an autosomal recessive inheritance (8/14, 57.1%); four had an autosomal dominant inheritance (4/5, 80%); four had an X‐linked inheritance (4/5, 80%). Among 38 pathological mutations in 19 known genes, 20 mutations are reported here for the first time. Novel mutation spectrum and genotype‐phenotype correlations were revealed as well.ConclusionHere we achieved a detection rate of 53.3% and elucidated the mutation spectrum in Taiwanese families with IRD for the first time. The results indicated that CYP4V2 and USH2A might be the most common pathogenic genes in IRD patients in Taiwan.
Outcomes of kidney transplantation using deceased donors with history of diabetes
Authors: Khan Faiza N. , Truong Luan D. , Nguyen Duc T. , Graviss Edward A. , Bhatti Muhammad I. , Frost Adaani E. , Osama Gaber A. , Suki Wadi N. 
Published: December 2019

AbstractDeceased diabetic kidneys are increasingly utilized in transplantation. The relationship of donor's history of diabetes to clinical and histological outcomes was examined. Forty‐nine diabetic deceased donor kidneys (D‐DM) were transplanted into 26 normal (R‐N/D‐DM) and 23 diabetic recipients (R‐DM/D‐DM) and compared to 211 diabetic recipients of normal kidneys(R‐DM/D‐N) and 466 normal recipients of normal kidneys (R‐N/D‐N). Patient survival at 5 years was 89.7% in R‐N/D‐N, 96.2% in R‐N/D‐DM, 80.1% in R‐DM/D‐N, and a 71.6% in R‐DM/D‐DM (P = .008). Death‐censored graft survival at 5 years was 86.3% in R‐N/D‐N, 87.4% in R‐N/D‐DM, 93.5% in R‐DM/D‐N, and 87.5% in R‐DM/D‐DM (P = .24). Multivariable regression analysis showed that compared to non‐diabetic recipients, diabetic recipients had a 2‐ to 3‐fold increased risk of mortality. In this cohort, there was no impact on death‐censored graft survival of diabetic donor status. Only 6 of 26 post‐perfusion biopsies showed evidence of diabetic nephropathy (<IIa), and on repeat biopsies 70% showed no evidence of progression. Survival of recipients of diabetic donor kidneys appears dependent on the diabetic status of the recipient with the worst survival being in diabetic recipients of a diabetic donor kidney. In this cohort, donor kidneys had paucity of structural diabetic lesions and most did not show progression.
Evaluating the left ventricular hemodynamic phenomena of DDD septum pacemaker implants using vector flow mapping
Authors: Meng Qingguo , Wang Sijia , Yan Sijing , Xu Yun , Wu Zhixia , Zhou Jie , Guo Zhiyu , Yin Lixue , Deng Yan , Feng Tianhang 
Published: December 2019

AbstractPurposeWe set out to undertake a preliminary assessment of the left ventricular hemodynamic status with right ventricular double‐chamber pacing by energy loss (EL), wall shear stress (WSS), and circulation intensity (CIR) of vector flow mapping (VFM). We also planned to evaluate the value of VFM technology by measuring cardiac function after pacemaker implantation.MethodData from 58 patients living with right ventricular double‐chamber (right ventricular septal) pacemakers as well as 58 healthy volunteers matched in age and gender were collected. The EL, numbers of vortex cycles (n), area (A), CIR, and WSS of the left ventricle with different phases of the same cardiac cycle were obtained.ResultsThe EL of the left ventricle was significantly higher in the pacemaker group than the control group at partial section of atrial contraction (AC), isovolumetric contraction (IVC), and rapid ejection (RE) (P < 0.05). The WSS of the left ventricle was significantly lower in the pacemaker group than the control group at part of the section in the rapid filling (RF), the AC, IVC, and RE phase (P < 0.05).DiscussionEL in the left ventricular was significantly increased, while related WSS was significantly decreased in patients with right ventricular double‐chamber pacing. Our exploration of the state of the flow field in the left ventricular cavity revealed that the implantation of the right ventricular double‐chamber pacemaker led to an abnormal left ventricular hemodynamic state, reducing the left ventricular systolic efficiency.
FGF23 and the PTH response to paricalcitol in chronic kidney disease
Authors: D'Arrigo Graziella , Pizzini Patrizia , Cutrupi Sebastiano , Tripepi Rocco , Tripepi Giovanni , Mallamaci Francesca , Zoccali Carmine 
Published: December 2019

AbstractBackgroundThe parathyroid glands are endowed both with receptors responsive to FGF23 and to 1,25 vitamin D. Vitamin D receptor (VDR) activation, besides lowering PTH, also raises serum FGF23. FGF23 has been implicated in parathyroid resistance to VDR activation but the issue has never been investigated in predialysis CKD patients.MethodsIn the Paricalcitol and Endothelial Functio in Chronic Kidney Disease (PENNY) study (NCT01680198), a 12‐week randomized trial in stage G3‐4 CKD patients (placebo n = 44 and paricalcitol n = 44), we measured PTH and the active form of FGF23 with no missing value across the trial.ResultsAt baseline, serum FGF23 and PTH were inter‐related (r = .54, P < .01). Paricalcitol reduced serum PTH (−75.1 pg/mL, 95% CI: −90.4 to −59.8; P < .001) and increased FGF23 (+107 pg/mL, 95% CI: 44‐170 pg/mL, P = .001). Changes in the Ca × P product in response to paricalcitol were closely related to simultaneous FGF23 changes in an analysis adjusted for changes in serum calcium and phosphate (P < .001). Of note, baseline FGF23, appropriately adjusted for baseline PTH, was unrelated with the PTH response to paricalcitol (r = −.06, P = .72). Placebo did not change neither PTH nor FGF23.ConclusionSerum FGF23 and PTH are inter‐related and changes in the Ca × P product induced by paricalcitol per se correlate with the FGF23 response to this drug. Independently of serum FGF23, the parathyroid glands of patients with moderate to severe CKD maintain an intact ability to respond to VDR activation.
Habitat fragmentation and species diversity in competitive communities
Authors: Rybicki Joel , Abrego Nerea , Ovaskainen Otso 
Published: December 2019

AbstractHabitat loss is one of the key drivers of the ongoing decline of biodiversity. However, ecologists still argue about how fragmentation of habitat (independent of habitat loss) affects species richness. The recently proposed habitat amount hypothesis posits that species richness only depends on the total amount of habitat in a local landscape. In contrast, empirical studies report contrasting patterns: some find positive and others negative effects of fragmentationper seon species richness. To explain this apparent disparity, we devise a stochastic, spatially explicit model of competitive species communities in heterogeneous habitats. The model shows that habitat loss and fragmentation have complex effects on species diversity in competitive communities. When the total amount of habitat is large, fragmentationper setends to increase species diversity, but if the total amount of habitat is small, the situation is reversed: fragmentationper sedecreases species diversity.
Should I plant or should I sow? Restoration outcomes compared across seven riparian revegetation projects
Authors: Greet Joe , Ede Fiona , Robertson Dan , McKendrick Scott 
Published: December 2019

SummaryTo revegetate native plant communities, it is often cheaper to direct seed than to plant nursery‐grown stock. However, the outcomes of direct seeding can be quite variable, and it is unclear whether direct seeding or planting is more likely to facilitate the restoration of diverse plant communities. To address this question, we compared the outcomes of each method across several recent riparian revegetation projects where both direct seeding and tube‐stock planting were used. We surveyed riparian revegetation projects at seven sites within the greater Melbourne area that had been revegetated between 1 and 4 years previously. Sites were all on land previously used for agriculture or degraded public land and ranged in environmental and climatic conditions. Woody plant density, establishment of target species, species richness, species diversity (evenness) and plant heights were assessed. Direct seeding tended to result in higher plant densities and similar species richness, but lower rates of species establishment and diversity compared with planting. A median of 67% of target species established via direct seeding compared with 100% for planting, with direct seeded areas often dominated by one or two species. In general, overall revegetation outcomes were often driven by climatic and site factors, rather than revegetation method. We suggest that to achieve good restoration outcomes from revegetation in riparian areas, a bet‐hedging or combined approach using both sowing and planting may be the best strategy.
Targeting proline in (phospho)proteomics
Authors: van der Laarse Saar A. M. , van Gelder Charlotte A. G. H. , Bern Marshall , Akeroyd Michiel , Olsthoorn Maurien M. A. , Heck Albert J. R. 
Published: December 2019

Mass spectrometry‐based proteomics experiments typically start with the digestion of proteins using trypsin, chosen because of its high specificity, availability, and ease of use. It has become apparent that the sole use of trypsin may impose certain limits on our ability to grasp the full proteome, missing out particular sites of post‐translational modifications, protein segments, or even subsets of proteins. To tackle this problem, alternative proteases have been introduced and shown to lead to an increase in the detectable (phospho)proteome. Here, we argue that there may be further room for improvement and explore the protease EndoPro. For optimal peptide identification rates, we explored multiple peptide fragmentation techniques (HCD, ETD, and EThcD) and employed Byonic as search algorithm. We obtain peptide IDs for about 40% of the MS2 spectra (66% for trypsin). EndoPro cleaves with high specificity at the C‐terminal site of Pro and Ala residues and displays activity in a broad pH range, where we focused on its performance at pH = 2 and 5.5. The proteome coverage of EndoPro at these two pH values is rather distinct, and also complementary to the coverage obtained with trypsin. As about 40% of mammalian protein phosphorylations are proline‐directed, we also explored the performance of EndoPro in phosphoproteomics. EndoPro extends the coverable phosphoproteome substantially, whereby both the, at pH = 2 and 5.5, acquired phosphoproteomes are complementary to each other and to the phosphoproteome obtained using trypsin. Hence, EndoPro is a powerful tool to exploit in (phospho)proteomics applications.
Identification of mycobacteria species by molecular methods
Authors: Kunduracılar Hakan 
Published: December 2019

AbstractIn this study, mycobacteria, which were previously identified as Mycobacterium tuberculosis complex (MTC), and mycobacteria other than tuberculosis (MOTT) with cord factor and the p‐nitro‐alpha‐acetyl‐amino‐beta‐hydroxypropiophenone (NAP) test were reanalysed using the polymerase chain reaction—restriction fragment length polymorphism (PCR‐RFLP) analysis method in order to confirm the identification, and at the same time, species accepted as MOTT were identified. Although the results of the NAP test were obtained within 3‐5 days, the PCR‐RFLP results were obtained in 1 day. Ten species identified as MTC with the NAP test and cord factor were confirmed with the PCR‐RFLP method. Fourteen species accepted as MOTT were identified as Mycobacterium species with the evaluation of the bands observed after the restriction of PCR product with the PCR‐RFLP method. These were as follows: three species Mycobacterium intracellulare type I, two species Mycobacterium phlei, two species Mycobacterium kansasii, one species Mycobacterium fortuitum type I, one species Mycobacterium gordonae type I, one species Mycobacterium abscessus type I, one species Mycobacterium scrofulaceum, one species Mycobacterium szulgai type I, one species Mycobacterium avium type II, and one species Mycobacterium terrae. Hence, the results of both the cord factor and the NAP test were confirmed with the molecular method, and at the same time, mycobacteria species identification was made by determining the fastest, easiest, and the most accurate result‐giving method. Because PCR‐RFLP is a very rapid method that provides exact identification of mycobacteria species, it can be performed in routine procedures.
Highly IR transparent ZnS ceramics sintered by vacuum hot press using hydrothermally produced ZnS nanopowders
Authors: Choi Boo‐Hyun , Kim Dae‐Su , Lee Ku‐Tak , Kim Bum‐Joo , Kang Jeong‐Su , Nahm Sahn 
Published: December 2019

AbstractHydrothermally synthesized ZnS nanopowders comprising small and large particles were used to synthesize ZnS ceramics. Small particles (200 nm) existed in the gaps between the large particles (0.7 μm) and assisted the densification of the ZnS ceramics. ZnS ceramics sintered at low temperatures (<1000°C) exhibited small grains with large grain‐boundary areas that provided diffusion paths for carbon ions from the graphite mold, resulting in carbonate absorption bands. ZnS ceramics sintered at high temperatures (≥1000°C) for a long time (≥2.0 hours) exhibited a dense microstructure with very large grains (>500 μm). The ZnS liquid phase, which was formed at approximately 980°C, assisted the densification and grain growth of the ZnS ceramics. A 3.0‐mm‐thick ZnS ceramic sintered at 1000°C for 16 hours showed a high Knoop hardness (321 kgf/mm2) and a high transmittance of 71% in the wavelength range 6.0‐12 μm without carbonate absorption bands.
Oxidative stress‐induced angiogenesis is mediated by miR‐205‐5p
Authors: Oltra Maria , Vidal‐Gil Lorena , Maisto Rosa , Sancho‐Pelluz Javier , Barcia Jorge M. 
Published: December 2019

AbstractmiR‐205‐5p is known to be involved in VEGF‐related angiogenesis and seems to regulate associated cell signalling pathways, such as cell migration, proliferation and apoptosis. Therefore, several studies have focused on the potential role of miR‐205‐5p as an anti‐angiogenic factor. Vascular proliferation is observed in diabetic retinopathy and the ‘wet’ form of age‐related macular degeneration. Today, the most common treatments against these eye‐related diseases are anti‐VEGF therapies. In addition, both AMD and DR are typically associated with oxidative stress; hence, the use of antioxidant agents is accepted as a co‐adjuvant therapy for these patients. According to previous data, ARPE‐19 cells release pro‐angiogenic factors when exposed to oxidative insult, leading to angiogenesis. Matching these data, results reported here, indicate that miR‐205‐5p is modulated by oxidative stress and regulates VEGFA‐angiogenesis. Hence, miR‐205‐5p is proposed as a candidate against eye‐related proliferative diseases.
Perceived and actual posttraumatic growth in religiousness and spirituality following disasters
Authors: Davis Edward B. , Van Tongeren Daryl R. , McElroy‐Heltzel Stacey E. , Davis Don E. , Rice Kenneth G. , Hook Joshua N. , Aten Jamie D. , Park Crystal L. , Shannonhouse Laura , Lemke Austin W. 
Published: December 2019

AbstractObjectiveReligious/spiritual (R/S) growth is a core domain of posttraumatic growth (PTG). However, research on R/S growth following disasters has over‐relied on retrospective self‐reports of growth. We therefore examined longitudinal change in religiousness/spirituality following two disasters.MethodReligious survivors of Hurricanes Harvey (Study 1) and Irma (Study 2) completed measures of perceived R/S PTG, general religiousness/spirituality (“current standing”‐R/S PTG), and subfacets of religiousness/spirituality (spiritual fortitude, religious motivations, and benevolent theodicies). In Study 1, 451 participants responded at 1‐month and 2‐month postdisaster. In Study 2, participants responded within 5‐days predisaster and at 1‐month (N = 1,144) and 6‐months postdisaster (N = 684).ResultsIn both studies, perceived R/S PTG was weakly related to longitudinal increases in general religiousness/spirituality and in most of its subfacets, but reliable growth in any R/S outcome was rare. Additionally, Study 2 revealed evidence that actual change in psychological well‐being is associated with actual (but not perceived) R/S PTG, but disaster survivors tend to exhibit declines in their religiousness/spirituality, spiritual fortitude, and religious motivations.ConclusionsResults suggest disaster survivors are only modestly accurate in perceiving how much positive R/S change they experience following a disaster. We discuss implications for clinical practice, scientific research, and empirical and conceptual work on PTG more broadly.
Total triterpenes from the fruits of Chaenomeles speciosa (Sweet) Nakai protects against indomethacin-induced gastric mucosal injury: involvement of TFF1-mediated EGF/EGFR and apoptotic pathways
Authors: Zhang Yuanyuan , Xu Haiyan , He Haibo , Li Xiaomei , Feng Minlu , He Yumin , Jiang Weijie , Wang Junzhi , Xu Daoxiang , Zou Kun 
Published: December 2019

Abstract

Objectives
Our previous studies indicated that the triterpenes from the fruits of Chaenomeles speciosa (Sweet) Nakai (TCS) owned effectively therapeutic effects on gastric ulcer patients and animals, but its mechanisms have not been fully understood. The current study was to further investigate its protective effect on indomethacin (IND)-damaged RGM-1 cells and rats, as well as its mechanisms involved.

Methods
The gastroprotection of TCS was evaluated with IND-induced gastric lesions model in RGM-1 cells and rats. In vitro, the proliferation, migration, mitochondrial viability and apoptosis were assessed. In vivo, ulcer index, ulcer inhibition rate, gastric juice acidity, gastric wall mucus (GWM) and histopathology of gastric mucosa were detected. The gastroprotective effects of TCS through the TFF1-mediated EGF/EGFR and apoptotic pathways were measured by qRT-PCR and Western blot assays.

Key findings
The results demonstrated that TCS had gastroprotective function, which was related to the amelioration in promoting IND-damaged RGM-1 cell proliferation and migration, hoisting gastric juice acidity and GWM, improving ulcer index and ulcer inhibition rate, attenuating the haemorrhage, oedema, epithelial cell loss and inflammatory cell infiltration of gastric mucosa, upregulating PCNA, Bcl-2, Bcl-xl mRNA and TFF1, EGF, p-EGFR, p-Src, pro-caspase-3, pro-caspase-9 protein expressions, mitochondrial viability, mitochondrial cytochrome c concentration and p-EGFR/EGFR, p-Src/Src, Bcl-2/Bax, Bcl-xl/Bad ratioes, downregulating Bax, Bad, Apaf-1 mRNA and cleaved-caspase-3, cleaved-caspase-9, cleaved PARP-1 protein expressions and cytosol cytochrome c concentration.

Conclusions
Our present study demonstrated that TCS’s gastroprotective effect was closely connected with boosting TFF1 expression, activating TFF1-mediated EGF/EGFR pathway, thus restraining mitochondrial-dependent apoptosis, which provided new insights into interpreting its underlying mechanism and promised to act as a candidate drug to treat gastric mucosal injury.
Short-chain fatty acids oppositely altered expressions and functions of intestinal cytochrome P4503A and P-glycoprotein and affected pharmacokinetics of verapamil following oral administration to rats
Authors: Zhang Jiaxin , Xie Qiushi , Kong Weimin , Wang Zhongjian , Wang Shuting , Zhao Kaijing , Chen Yang , Liu Xiaodong , Liu Li 
Published: December 2019

Abstract

Objectives
To investigate effects of short-chain fatty acids (SCFAs) on expressions and functions of intestinal cytochrome P4503A (Cyp3a) and P-glycoprotein (P-gp). To develop a semi-physiologically based pharmacokinetic (semi-PBPK) model for assessing their contributions.

Methods
Verapamil pharmacokinetics was investigated following oral administration to rats receiving water containing 150 mm SCFAs for 3 weeks. Cyp3a activities in intestinal and liver mircosomes were assessed by norverapamil formation. In-situ single-pass perfusion was used to evaluate intestinal transport of verapamil and P-gp function. Functions and expressions of Cyp3a and P-gp were measured in mouse primary enterocytes following 48-h exposure to SCFAs. Contributions of intestinal P-gp and Cyp3a to verapamil pharmacokinetics were assessed using a semi-PBPK model.

Key findings
Short-chain fatty acids significantly increased oral plasma exposures of verapamil and norverapamil. SCFAs upregulated Cyp3a activity and expression, but downregulated P-gp function and expression in rat intestine, which were repeated in mouse primary enterocytes. PBPK simulation demonstrated contribution of intestinal Cyp3a to oral plasma verapamil exposure was minor, and the increased oral plasma verapamil exposure was mainly attributed to downregulation of intestinal P-gp.

Conclusions
Short-chain fatty acids oppositely regulated functions and expressions of intestinal Cyp3a and P-gp. The downregulation of P-gp mainly contributed to the increased oral plasma verapamil exposure by SCFAs.