bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia
Authors: Almutairi Faris , Almeshari Nawaf , Ahmad Khabir , Magliyah Moustafa S. , Schatz Patrik 
Published: December 2020

AbstractCongenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resulting from dysfunction of several specific and essential visual processing mechanisms. The inheritance is often recessive and as such, CSNB may be more common among populations with a high degree of consanguinity. Here, we present a topic update and a review of the clinical and molecular genetic spectrum of CSNB in Saudi Arabia. Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in autosomal recessive CSNB: RIMS2, GNB3, GUCY2D and ABCA4. These have been associated with syndromic cone–rod synaptic disease, ON bipolar cell dysfunction with reduced cone sensitivity, CSNB with dysfunction of the phototransduction (Riggs type) and CSNB with cone–rod dystrophy, respectively. In Saudi Arabia, a total of 24 patients with CSNB were identified, using a combination of literature search and retrospective study of previously unpublished cases. Recessive mutations in TRPM1 and CABP4 accounted for the majority of cases (5 and 13 for each gene, respectively). These genes were associated with complete (cCSNB) and incomplete (icCSNB), respectively, and were associated with high myopia in the former and hyperopia in the latter. Four novel mutations were identified. For the first time, we describe the fundus albipunctatus in two patients from Saudi Arabia, caused by recessive mutation in RDH5 and RPE65, where the former in addition featured findings compatible with cone dystrophy. No cases were identified with any dominantly inherited CSNB.
Consecutive contralateral comparison of toric and non‐toric implantable collamer lenses V4c in vault after implantation for myopia and astigmatism
Authors: Zhao Jiao , Zhao Jing , Yang Wen , Li Meiyan , Hao Gengsheng , Chen Zhuoyi , Wang Xiaoying , Yao Peijun , Zhou Xingtao 
Published: December 2020

AbstractAimsTo compare the vault performance between implantable collamer lens (ICL) V4c and Toric ICL (TICL) V4c after implantation and to investigate the affecting factors.MethodsSixty‐eight eyes from 34 patients with myopia or myopia astigmatism who underwent implantation of TICL in one eye (group A) and identically sized ICL (group B) in the contralateral eye were included. Mean follow‐up time were 7.58 ± 1.63 months (range: 6–10 months). Vault was compared between the two groups and correlations between vault and age, preoperative ocular biometric measurements were analysed. Generalized estimating equation (GEE) model of postoperative vault adjusting for within‐patient intereye correlations was performed.ResultsThe safety indices were 1.27 and 1.35, and the efficacy indices were 1.20 and 1.24 for groups A and B, respectively. Vault of TICL was significantly higher than that of ICL (554.11 ± 219.36 μm vs 449.70 ± 172.47 μm, P < 0.001). The difference between ICL/TICL size and WTW (size‐WTW) and STS (size‐STS), anterior chamber depth and pupil diameter (PD) were positively correlated with vault. Patient age and clear lens rise measured by Pentacam were negatively correlated with vault. Results of GEE model showed preoperative PD, age, cylindrical power of TICL and size‐WTW were influencing factors for postoperative vault.ConclusionsVault after TICL implantation is higher than that with ICL. PD, age, cylindrical power of TICL and size‐WTW could affect postoperative vault.
Genetic relationship between litter size traits at birth and body measurement and production traits in purebred Duroc pigs
Authors: Ogawa Shinichiro , Ohnishi Chika , Ishii Kazuo , Uemoto Yoshinobu , Satoh Masahiro 
Published: December 2020

AbstractHeritabilities of litter size traits at birth (total number born (TNB), number born alive (NBA), and number still born (NSB)) and their genetic correlations with body measurement (body height, body length, front width (FW), chest width (CW), hind width, chest depth, chest girth, front cannon circumference, and rear cannon circumference) and production traits (ages at the start and end of performance testing (D30 and D105), average daily gain (ADG), backfat thickness, and loin muscle area) in purebred Duroc pigs were estimated. Records of performance testing for 2,835 animals and farrowing records of 1,168 litters from 437 dams were used. Genetic parameters were estimated using single‐trait and two‐trait animal models. Permanent environment effect was considered for litter size traits and common litter environmental effect was considered for body measurement and production traits. The estimated heritability was 0.10 ± 0.06 for TNB, 0.16 ± 0.06 for NBA, and 0.08 ± 0.05 for NSB. Positive genetic correlation of NBA was estimated with D30, D105, and ADG (0.51, 0.11, and 0.39). The estimated genetic correlation of NBA was 0.47 ± 0.17 with FW and 0.55 ± 0.18 with CW, implying that FW and CW could be promising indicator traits for efficiently improving NBA.
Effects of saikosaponin‐d on CYP3A4 in HepaRG cell and protein‐ligand docking study
Authors: Li Hongfang , Tang Yunyan , Wei Weipeng , Yin Chengchen , Tang Fushan 
Published: December 2020

AbstractSaikosaponin‐d (SSd) is a major bioactive triterpenoid saponin extracted fromBupleurum, which has anti‐inflammatory, anticancer, antioxidative and anti‐hepatic fibrosis effects. Due to the effects ofBupleurum‐related formulations on cytochrome P450 (CYPs) expression still remain unclear, the combination therapies involved formulations containingBupleurummay sometimes lead to unexpected drug‐drug interactions in clinical practice. These interactions can limit the clinical applications of related formulations. In this study, we tried to explore the effects of SSd on CYP3A4 mRNA, protein expression and the enzyme activity in HepaRG cells by real‐time quantitative reverse transcription polymerase chain reaction (RT‐qPCR), Western blot (WB) and HPLC method, respectively. The interaction between SSd and CYP3A4 was analysed by molecular docking. HepaRG cells were cultured with different concentrations of SSd (0.5, 1, 5 and 10 μmol/L) for 72 hours. It is revealed that SSd can inhibit CYP3A4 mRNA and its protein expression, and also the enzyme activity. Molecular docking study demonstrated that SSd can bind to several key active sites of amino acid residues of CYP3A4 protein with hydrogen bonds and hydrophobic interactions. Thus, drug‐drug interactions resulted by SSd inhibiting CYP3A4 need attention when formulations containing SSd orBupleurumare co‐administrated with drugs metabolized by CYP3A4.
Investigating neural circuits of emotion regulation to distinguish euthymic patients with bipolar disorder and major depressive disorder
Authors: Rai Sabina , Griffiths Kristi , Breukelaar Isabella A. , Barreiros Ana R. , Chen Wenting , Boyce Philip , Hazell Philip , Foster Sheryl , Malhi Gin S. , Bryant Richard A , Harris Anthony W.F. , Korgaonkar Mayuresh S. 
Published: December 2020

AbstractBackgroundUp to 40% of patients with bipolar disorder (BD) are initially diagnosed as having major depressive disorder (MDD), and emotional lability is a key aspect of both sets of mood disorders. However, it remains unknown whether differences in the regulation of emotions through cognitive reappraisal may serve to distinguish BD and MDD. Therefore, we examined this question in euthymic BD and MDD patients.MethodsThirty‐eight euthymic BD, 33 euthymic MDD and 37 healthy control (HC) participants, matched for age, gender and depression severity, engaged in an emotion regulation (ER) cognitive reappraisal task during an fMRI scan were examined. Participants either reappraised (Think condition) or passively watched negative (Watch condition) or neutral (Neutral condition) pictures and rated their affect. Activation and connectivity analyses were used to examine group differences in reappraisal (Think vs Watch) and reactivity (Watch vs Neutral) conditions in ER‐specific neural circuits.ResultsIrrespective of group, participants rated most negatively the images during the Watch condition relative to Think and Neutral conditions, and more negatively to Think relative to Neutral. Notably, BD participants exhibited reduced subgenual anterior cingulate activation (sgACC) relative to MDD during reappraisal, but exhibited greater sgACC activation relative to MDD during reactivity, whereas MDD participants elicited greater activation in right amygdala relative to BD during reactivity. We found no group differences in task‐related connectivity.ConclusionsEuthymic BD and MDD patients engage differential brain regions to process and regulate emotional information. These differences could serve to distinguish the clinical groups and provide novel insights into the underlying pathophysiology of BD.
Derivative deprivation and the wrong of abortion
Authors: Stratton‐Lake Philip 
Published: December 2020

AbstractIn his ‘The Identity Objection to the future‐like‐ours argument’ (Bioethics, 2019, 33: 287–293), Brill argues that Marquis's 'future of value' account of the wrong of abortion is still vulnerable to the identity objection—the claim that the foetus and the later person are not numerically identical, so the later person's valuable experiences are not the foetus's future experiences—even if it is conceded that the future organism, as well as the person, has experiences. This is because the organism has these experiences in a different way from the person. The person has them directly, and the organism has them only derivatively. This implies, he maintains, that the organism cannot be deprived of those experiences in a way that is wrong. Only the person can be deprived in this morally relevant way. But, I argue, if the organism genuinely has those experiences, it is not at all clear why its being deprived of them would be permissible. I argue that the reason why Brill can claim that having those experiences derivatively makes this moral difference is because the sense in which the organism has experiences is not a genuine sense. But that is a problem for this theory of personal identity, not for Marquis's account of the wrong of abortion. I also argue that supposing that one cannot morally harm the human organism has various implausible implications, which cast doubt on the idea that having experiences derivatively means that the organism is not morally harmed by being deprived of them.
Intra‐individual dynamics of lesson‐specific engagement: Lagged and cross‐lagged effects from one lesson to the next
Authors: Vasalampi Kati , Muotka Joona , Malmberg Lars‐Erik , Aunola Kaisa , Lerkkanen Marja‐Kristiina 
Published: December 2020

BackgroundStudent engagement denotes active participation in academic work through commitment and involvement in learning tasks (Appleton et al., 2006, Journal of School Psychology, 44, 427). This study looks at questions such as whether engagement experiences in one lesson have an effect on the next lesson. In the present study, process‐oriented analyses were conducted to examine lower secondary school students’ engagement experiences and the stability of those experiences from one lesson to the next.Aims(1) To what extent are students’ engagement experiences, in terms of behavioural and cognitive engagement, emotional engagement, and disaffection, stable from one lesson to the next (autoregressive cyclic effects)? (2) What are the cross‐lagged relationships (dynamic effects) between engagement experiences from one lesson to the next?SampleThe sample consisted of 56 Finnish lower secondary school students. The students provided ratings of their engagement experiences at the end of each lesson for one week (5 days, 975 ratings). Each student rated, on average, 17.4 lessons (SD = 5.67).MethodsWe specified multilevel dynamic structural equation models with random slopes.ResultsThe models showed small significant sustainability in behavioural and cognitive engagement, emotional engagement, and disaffection from one lesson to the next, regardless of subject matter and teacher continuity. Higher behavioural and cognitive engagement in a lesson also had a self‐diminishing effect on disaffection.ConclusionsThe present study provides valuable information to teachers by showing that an experience in one lesson can have an effect on subsequent ones.
Prospective validation of microseminoprotein‐β added to the 4Kscore in predicting high‐grade prostate cancer in an international multicentre cohort
Authors: Lonergan Peter E. , Vertosick Emily A. , Assel Melissa , Sjoberg Daniel D. , Haese Alexander , Graefen Markus , Boorjian Stephen A. , Klee George G. , Cooperberg Matthew R. , Pettersson Kim , Routila Erica , Vickers Andrew J. , Lilja Hans 
Published: December 2020

ObjectivesTo prospectively evaluate the performance of a pre‐specified statistical model based on four kallikrein markers in blood (total prostate‐specific antigen [PSA], free PSA, intact PSA, and human kallikrein‐related peptidase 2), commercially available as the 4Kscore, in predicting Gleason Grade Group (GG) ≥2 prostate cancer at biopsy in an international multicentre study at three academic medical centres, and whether microseminoprotein‐β (MSP) adds predictive value.Patients and MethodsA total of 984 men were prospectively enrolled at three academic centres. The primary outcome was GG ≥2 on prostate biopsy. Three pre‐specified statistical models were used: a base model including PSA, age, digital rectal examination and prior negative biopsy; a model that added free PSA to the base model; and the 4Kscore.ResultsA total of 947 men were included in the final analysis and 273 (29%) had GG ≥2 on prostate biopsy. The base model area under the receiver operating characteristic curve of 0.775 increased to 0.802 with the addition of free PSA, and to 0.824 for the 4Kscore. Adding MSP to the 4Kscore model yielded an increase (0.014–0.019) in discrimination. In decision‐curve analysis of clinical utility, the 4Kscore showed a benefit starting at a 7.5% threshold.ConclusionA prospective multicentre evaluation of a pre‐specified model based on four kallikrein markers (4Kscore) with the addition of MSP improves the predictive discrimination for GG ≥2 prostate cancer on biopsy and could be used to inform biopsy decision‐making.
Long‐term oncological outcomes of the Agarwal loop‐ligation technique for management of the distal ureter during laparoscopic radical nephroureterectomy
Authors: Hoe Venetia , Yao Henry H. , Crozier Jack , Kanagarajah Abbie , Florescu Grace , Kearsley Jamie , Dundee Philip , O’Connell Helen E. , Lawrentschuk Nathan , Agarwal Dinesh K. 
Published: December 2020

ObjectivesTo describe the Agarwal loop‐ligation technique for the management of the distal ureter during laparoscopic radical nephroureterectomy (LRNU) for upper tract urothelial carcinoma (UTUC) and report on long‐term oncological outcomes.Patients and MethodsIn the Agarwal loop‐ligation technique, the distal ureteric stump is controlled using endoscopic Endoloop® or PolyLoop® ligation to ensure en bloc excision of the bladder cuff and prevent spillage of upper tract urine into the perivesical space. A retrospective review of the medical records of 76 patients who underwent the Agarwal loop‐ligation technique for UTUC at participating centres from July 2004 to December 2017 was performed. Data collected included demographics, perioperative, and long‐term oncological outcomes. Survival was calculated using Kaplan–Meier survival analyses.Results and LimitationsA total of 76 patients were included. The median age was 71.5 years and median operative time was 4.3 h. The intramural ureter and bladder cuff were completely excised in all patients. Distal surgical margins were clear in all, with only two patients found to have tumour extending to the circumferential surgical margin. There were no cases of perivesical recurrence or port‐site metastasis. The 5‐year bladder, local, and contralateral recurrence‐free survival was 59.6%, 89.0% and 93.5%, respectively. Metastasis‐free survival at 5‐years was 73.5%. The 5‐year overall survival and cancer‐specific survival rates were 70.3% and 84.7%, respectively.ConclusionsWe have described the Agarwal loop‐ligation technique for the management of the distal ureter in LRNU. This technique complies with oncological principles outlined in the European Association of Urology guidelines, which minimises tumour spillage. Long‐term oncological outcomes are satisfactory, with no cases of perivesical recurrence detected in this series.
The clinicopathological characteristics of muscle‐invasive bladder recurrence in upper tract urothelial carcinoma
Authors: Shigeta Keisuke , Matsumoto Kazuhiro , Ogihara Koichiro , Murakami Tetsushi , Anno Tadatsugu , Umeda Kota , Izawa Mizuki , Baba Yuto , Sanjo Tansei , Shojo Kazunori , Tanaka Nobuyuki , Takeda Toshikazu , Kosaka Takeo , Mizuno Ryuichi , Mikami Shuji , Kikuchi Eiji , Oya Mototsugu 
Published: December 2020

AbstractThis study aimed to clarify the clinical characteristics and oncological outcomes of patients with upper tract urothelial carcinoma (UTUC) who developed muscle‐invasive bladder cancer (MIBC) after radical nephroureterectomy (RNU). We identified 966 pTa‐4N0‐2M0 patients with UTUC who underwent RNU and clarified the risk factors for MIBC progression after initial intravesical recurrence (IVR). We also identified 318 patients with primary pT2‐4N0‐2M0 MIBC to compare the oncological outcomes with those of patients with UTUC who developed or progressed to MIBC. Furthermore, immunohistochemical examination of p53 and FGFR3 expression in tumor specimens was performed to compare UTUC of MIBC origin with primary MIBC. In total, 392 (40.6%) patients developed IVR after RNU and 46 (4.8%) developed MIBC at initial IVR or thereafter. As a result, pT1 stage on the initial IVR specimen, concomitant carcinoma in situ on the initial IVR specimen, and no intravesical adjuvant therapy after IVR were independent factors for MIBC progression. After propensity score matching adjustment, primary UTUC was a favorable indicator for cancer‐specific death compared with primary MIBC. Subgroup molecular analysis revealed high FGFR3 expression in non‐MIBC and MIBC specimens from primary UTUC, whereas low FGFR3 but high p53 expression was observed in specimens from primary MIBC tissue. In conclusion, our study demonstrated that patients with UTUC who develop MIBC recurrence after RNU exhibited the clinical characteristics of subsequent IVR more than those of primary UTUC. Of note, MIBC subsequent to UTUC may have favorable outcomes, probably due to the different molecular biological background compared with primary MIBC.
CD205+ polymorphonuclear myeloid‐derived suppressor cells suppress antitumor immunity by overexpressing GLUT3
Authors: Fu Chenghao , Fu Zhonglin , Jiang Chunying , Xia Chao , Zhang Yiwei , Gu Xingju , Zheng Kexin , Zhou Dayu , Tang Shuang , Lyu Shuxia , Ma Shiliang 
Published: December 2020

AbstractMyeloid‐derived suppressor cells (MDSCs) are responsible for antitumor immunodeficiency in tumor‐bearing hosts. Primarily, MDSCs are classified into 2 groups: monocytic (M)‐MDSCs and polymorphonuclear (PMN)‐MDSCs. In most cancers, PMN‐MDSCs (CD11b+Ly6ClowLy6G+ cells) represent the most abundant MDSC subpopulation. However, the functional and phenotypic heterogeneities of PMN‐MDSC remain elusive, which delays clinical therapeutic targeting decisions. In the 4T1 murine tumor model, CD11b+Ly6Glow PMN‐MDSCs were sensitive to surgical and pharmacological interventions. By comprehensively analyzing 64 myeloid cell‐related surface molecule expression profiles, cell density, nuclear morphology, and immunosuppressive activity, the PMN‐MDSC population was further classified as CD11b+Ly6GlowCD205+ and CD11b+Ly6GhighTLR2+ subpopulations. The dichotomy of PMN‐MDSCs based on CD205 and TLR2 is observed in 4T07 murine tumor models (but not in EMT6). Furthermore, CD11b+Ly6GlowCD205+ cells massively accumulated at the spleen and liver of tumor‐bearing mice, and their abundance correlated with in situ tumor burdens (with or without intervention). Moreover, we demonstrated that CD11b+Ly6GlowCD205+ cells were sensitive to glucose deficiency and 2‐deoxy‐d‐glucose (2DG) treatment. Glucose transporter 3 (GLUT3) knockdown by siRNA significantly triggered apoptosis and reduced glucose uptake in CD11b+Ly6GlowCD205+ cells, demonstrating the dependence of CD205+ PMN‐MDSCs survival on both glucose uptake and GLUT3 overexpression. As GLUT3 has been recognized as a target for the rescue of host antitumor immunity, our results further directed the PMN‐MDSC subsets into the CD205+GLUT3+ subpopulation as future targeting therapy.
A phylotranscriptomic framework for flesh fly evolution (Diptera, Calyptratae, Sarcophagidae)
Authors: Yan Liping , Buenaventura Eliana , Pape Thomas , Narayanan Kutty Sujatha , Bayless Keith M. , Zhang Dong 
Published: December 2020

AbstractThe Sarcophagidae (flesh flies) comprise a large and widely distributed radiation within the Calyptratae (Diptera). Larval feeding habits are ecologically diverse and include sarcosaprophagy, coprophagy, herbivory, invertebrate and vertebrate predation, and kleptoparasitism. To elucidate the geographic origin and evolution of flesh fly life‐history, we inferred a backbone phylogeny based on transcriptomic data from 26 sarcophagid species covering all three subfamilies plus 15 outgroups. The phylogeny was inferred using maximum parsimony and maximum likelihood methods based on a series of supermatrices, one set with overall information content improved by MARE (2290 loci), one set with 100% gene coverage for all included species (587 loci), and the last set including mitochondrial and nuclear genes (589 loci) and additional taxa. In order to obtain a more detailed hypothesis, we utilized the supertree approach to combine results from the present study with previously published hypotheses. This resulted supertree covers 84 of the one hundred currently recognized sarcophagid genera and formed the basis for the ancestral state reconstructions. The monophyletic Sarcophagidae is well‐supported as sister to {Mystacinobiidae + Oestridae}, and relationships at the subfamily level are inferred as {Sarcophaginae, (Paramacronychiinae + Miltogramminae)}. The Sarcophagidae and each subfamily originated in the Americas, with Sarcophaginae diversifying mainly in the Neotropics, whereas the major radiation of both Miltogramminae and Paramacronychiinae occurred in the Palaearctic. Sarcosaprophagy is reconstructed as the ancestral larval feeding habit of the family Sarcophagidae and each subfamily. The ancestral sarcophagid larva probably utilized dead invertebrates as food, and the food spectrum expanded together with the diversification of breeding strategies. Particularly, kleptoparasitism in Miltogramminae is derived from sarcosaprophagy and may be seen as having derived from the breeding biology of ‘lower’ miltogrammines, the larvae of which feed on buried vertebrate carrion.