bluuebunny/crossref_metadata_2025_split huggingface dataset:
PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series
Authors: Vaduva Patricia , Bouys Lucas , Jouinot Anne , Espiard Stephanie , Chansavang Albain , Berthon Annabel , Néou Mario , Vaczlavik Anna , Violon Florian , Charchar Helaine , Kroiss Matthias , Raverot Gerald , Lasolle Helene , Guignat Laurence , Libé Rossella , Assié Guillaume , Tabarin Antoine , Kamenicky Peter , Pasmant Eric , Fragoso Maria , Stratakis Constantine , Ragazzon Bruno , Bertherat Jérôme 
Published: January 2025

Abstract

Context
Primary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of Cushing syndrome due to bilateral nodules, is a heterogeneous disease at the clinical, hormonal, and morphological levels. ARMC5-inactivating pathogenic variants are causative of PBMAH, and rare variants of PDE11A have been associated with PBMAH.

Objective
The aim of this study, on a large cohort of individuals with PBMAH from Europe and America, was to study the ARMC5 and PDE11A genotype to determine the genotype/phenotype correlation and to investigate the hypothesis that PDE11A could be a modifying gene of the adrenal phenotype.

Methods
Leukocyte DNA of 354 PBMAH index cases was sequenced for ARMC5 and PDE11A genes by next-generation sequencing. Phenotypic characteristics of 334 of these patients were analyzed to study the genotype/phenotype correlations.

Results
Seven out of 16 PDE11A variants were considered damaging according to in silico predictions: 6 missense variants (p.Tyr727Cys, p.Met623Arg, p.Tyr658Cys, p.Ag867Trp, p.Asn298Ser, p.Glu840Lys) and 1 stop-gain variant (p.Arg307Ter). In the cohort, 11.4% of patients had one of these variants and 19.2% had ARMC5-pathogenic variants. There was no statistically significant difference in the distribution of PDE11A-damaging variants according to ARMC5 status (P = .83; OR = 0.79; 95% CI, 0.26-2.03) nor in the distribution of ARMC5 pathogenic variants according to PDE11A status (P = .83; OR = 0.81; 95% CI, 0.27-2.04). Patients with PDE11A-damaging variants had lower urinary free cortisol (0.7 vs 1.25 upper limit of normal; P = .0002), midnight plasma cortisol (157.81 vs 222.19 nmol/L, P = .016), and number of adrenal nodules (3.46 vs 4.74; P = .048) compared to PDE11A wild-type patients. Patients with ARMC5-pathogenic variants had a more severe phenotype with more frequent comorbidities and were more often treated by adrenalectomy (60%).

Conclusion
PDE11A appears to be a modulator of PBMAH phenotype, damaging variants being associated with an attenuated form. This may contribute to the heterogeneity of PBMAH and could affect patient management.
Causes of Different Force-Velocity Relationships in Sprint Running Depending on Horizontal Loads and Profiling Methods
Authors: Sugisaki Norihide , Tsuchie Hiroyasu , Takai Yohei , Kobayashi Kai , Yoshimoto Takaya , Kanehisa Hiroaki 
Published: January 2025

ABSTRACT

Purpose
We aimed to clarify how the horizontal force-velocity (Fv
h) relationship during over-ground sprint running differs with horizontal resistance loads and profiling methods (multiple- and single-trial methods).

Methods
Twelve males performed sprint running (one unresisted and five resisted) using a motorized loading device. During the trials, the ground reaction forces at every step were obtained using a 50 m force plate system. The step-averaged Fv
h relationships were then determined using single- and multiple-trial methods with linear and curvilinear models. The differences in Fv
h parameters between loading conditions and between profiling methods, as well as the goodness of fit of the regression models to the measured data, were examined.

Results
We found that Fv
h plots in each loading condition almost overlapped during acceleration, whereas, the horizontal forces deviated toward a lower value around maximal velocity; the linear Fv
h parameters derived using the single-trial method had a load-dependency; the linear Fv
h relationship derived from the multiple-trial method had a bias toward lower force values with less negative slopes compared with the single-trial method; the curvilinear models fitted the pooled data of all loading conditions better than the linear model; and the Fv
h relationship within the velocity range of unresisted sprinting was almost linear.

Conclusions
The results of this study indicate that the reported load-dependency of Fv
h parameters is mainly due to large horizontal forces at very low velocities in resisted sprinting, and the profiling method-dependency is mainly due to the attenuation of horizontal force around the maximal velocity of each loading condition. Factors of deviations from a linear Fv
h relationship in horizontal force and the validity and usefulness of nonlinear models require further investigation.
Surgical nonunion treatment of large-sized defects of femur and tibia based on the diamond concept
Authors: Findeisen Sebastian , Mennerat Louis , Ferbert Thomas , Helbig Lars , Bewersdorf Tim N. , Großner Tobias , Schamberger Christian , Schmidmaier Gerhard , Tanner Michael 
Published: January 2025

AimsThe aim of this study was to evaluate the radiological outcome of patients with large bone defects in the femur and tibia who were treated according to the guidelines of the diamond concept in our department (Centre for Orthopedics, Trauma Surgery, and Paraplegiology).MethodsThe following retrospective, descriptive analysis consists of patients treated in our department between January 2010 and December 2021. In total, 628 patients were registered, of whom 108 presented with a large-sized defect (≥ 5 cm). A total of 70 patients met the inclusion criteria. The primary endpoint was radiological consolidation of nonunions after one and two years via a modified Lane-Sandhu Score, including only radiological parameters.ResultsThe mean defect size was 6.77 cm (SD 1.86), with the largest defect being 12.6 cm. Within two years after surgical treatment, 45 patients (64.3%) presented consolidation of the previous nonunion. After one year, six patients (8.6%) showed complete consolidation and 23 patients (32.9%) showed a considerable callus formation, whereas 41 patients (58.6%) showed a Lane-Sandhu score of 2 or below. Two years after surgery, 24 patients (34.3%) were categorized as Lane-Sandhu score 4, another 23 patients (32.9%) reached a score of 3, while 14 patients (20.0%) remained without final consolidation (score ≤ 2). A total of nine patients (12.9%) missed the two-year follow-up. The mean follow-up was 44.40 months (SD 32.00). The mean time period from nonunion surgery to consolidation was 16.42 months (SD 9.73)ConclusionPatients with presentation of a large-sized nonunion require a structured and sufficiently long follow-up to secure the consolidation of the former nonunion. Furthermore, a follow-up of at least two years is required in order to declare a nonunion as consolidated, given that a significant part of the nonunions declared as not consolidated at one year showed consolidation within the second year. Moreover, the proven “gold standard” of a two-step procedure, so called Masquelet technique, shows effectiveness.Cite this article: Bone Jt Open 2024;6(1):26–34.
A low pre-existing anti-NS1 humoral immunity to DENV is associated with microcephaly development after gestational ZIKV exposure
Authors: Castro-Trujillo Sebastián , Mejía William R. , Segura Katherine , Castro-Meneses Juanita , Vega Rocío , Salgado Doris , Fonseca Carlos E. , Ortiz Ángela M. , Perdomo-Celis Federico , Bosch Irene , Narváez Carlos F. 
Published: January 2025

Background
Gestational Zika virus (ZIKV) infection is associated with the development of congenital Zika syndrome (CZS), which includes microcephaly and fetal demise. The magnitude and quality of orthoflavivirus-specific humoral immunity have been previously linked to the development of CZS. However, the role of ZIKV NS1-specific humoral immunity in mothers and children with prenatal ZIKV exposure and CZS remains undefined. In addition, considering that most of the at-risk population lives in dengue virus (DENV)-endemic areas, it is not clear what is the association between pre-existing DENV NS1-specific humoral immunity and CZS.

Methods
Here, we studied 328 mothers and children with a clinical diagnosis and seropositivity for ZIKV infection during pregnancy, included during the 2015–2016 ZIKV epidemic in Colombia. We also performed clinical evaluation and pediatric neurological follow-up. The relative levels of circulating NS1-specific IgM and IgG against ZIKV and DENV were evaluated in mothers and children, and the association with the development of microcephaly was analyzed.

Results
DENV and ZIKV IgG-NS1 antibodies in pregnant women were placentally transferred, and this passage and its duration in children depended on the maternal levels of the antibodies. We reported that higher concentrations of pre-existing DENV, but not ZIKV IgG-NS1 antibodies, were associated with a reduced risk of CZS-related microcephaly. Also, we observed that the IgM-NS1 response in infants is long-term and has a minor association with poor outcomes.

Conclusions
The development of microcephaly in children prenatally exposed to ZIKV is associated with low plasma levels of placentally transferred, pre-existing DENV IgG-NS1 antibodies. These data are compatible with a protective role of anti-NS1 IgG antibodies against ZIKV infection during pregnancy and highlight the promising role of NS1 as an orthoflavivirus vaccine target in high-risk populations.
The Masjid in Contemporary Islamic Africa, Michelle Moore Apotsos (2021)
Authors: Teriba Adedoyin 
Published: January 2025

Review of: The Masjid in Contemporary Islamic Africa, Michelle Moore Apotsos (2021)
Cambridge: Cambridge University Press, 288 pp., 48 b&w illus.,
ISBN: 9781108473347 (hardback), $80.00
Students’ L2 grit, foreign language anxiety and language learning achievement: a latent profile and mediation analysis
Authors: Liu Honggang , Li Xiaoxue , Guo Gongwei 
Published: January 2025

Abstract
L2 (second language) grit, an essential personal resource involving perseverance of effort and consistency of interest, has been well documented via a variable-centred method. The current study employed latent profile analysis (LPA), a person-centred approach, to identify the potential profiles of L2 grit, moving beyond previous studies by recognizing student heterogeneity. Drawing on the conservation of resources (COR) theory, this study also examined the relationship between L2 grit, foreign language anxiety, and achievement within the identified profiles of L2 grit. Three profiles of L2 grit were disclosed, namely, “medium effort and interest”, “great effort but weak interest”, and “great effort and interest”. The facilitative function of foreign language anxiety on achievement was realised only for those within the “great effort and interest” profile, which was interpreted as the optimal configuration of personal resources from the lens of COR theory. This study generated insights for future studies on this topic.
Vasa previa guidelines and their supporting evidence
Authors: McMahon Carine , Laiu Shelene , Oyelese Yinka , Rolnik Daniel L. 
Published: January 2025

Abstract

Introduction
Vasa previa (VP) is a serious pregnancy complication in which fetal vessels, unprotected by the umbilical cord, run across or within close proximity to the internal cervical os, which can potentially result in fetal exsanguination in the event of membrane rupture. There is global consensus that women with antenatally diagnosed VP should have caesarean delivery prior to onset of labour to prevent the catastrophic complications of VP. However, there is variability in the approach to management of these women antenatally, particularly regarding hospitalisation and timing of steroid administration and delivery.

Content
In this review, we aim to compare the VP guidelines of four prominent obstetric advisory bodies: The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG), The Royal College of Obstetricians and Gynaecologists (RCOG), The Society for Maternal-Fetal Medicine (SMFM) and The Society of Obstetricians and Gynaecologists of Canada (SOGC) with a particular focus on antenatal hospitalisation, administration of steroids, and timing of birth in asymptomatic patients. We also aim to evaluate the evidence cited to support their recommendations.

Summary
Current guidelines are based on low-quality evidence that often does not include insights from recent studies and are vague in their recommendations for antenatal hospitalisation and timing of delivery.

Outlook
More robust evidence for management of VP is needed to inform future guidelines.
The cytotoxic and antiproliferative effect of Polygala saponin XLIV on the human colorectal carcinoma cell line
Authors: Becer Eda , Hanoğlu Azmi , Ünlü Ayşe , Aydın Zübeyde Uğurlu , Dönmez Ali A. , Jurt Simon , Vatansever Seda H. , Çalış İhsan 
Published: January 2025

Abstract

Objectives
Saponins are secondary metabolites naturally found in plants with diverse pharmacological properties such as anticancer. This research aimed to explore the anti-cancer properties of Polygalasaponin XLIV (PS-XLIV) in a human colorectal carcinoma cell line derived from Polygala vulgaris roots.

Methods
HCT166 cells were treated with different PS-XLIV concentrations and incubated for 24 and 48 h. We used immunocytochemistry to investigate PS-XLIV’s anti-cancer properties, employing antibodies targeting WNT3A, WNT11, STAT3, β-catenin, and Ki-67. The IC50 value of PS-XLIV was 80 μg/mL in HCT116 cells. WNT11, STAT3, β-catenin, and Ki-67. Immunoreactivities significantly decreased in PS-XLIV-treated HCT116 cells than in control group cells.

Results
After PS-XLIV treatment, the epithelial morphology of cells was protected; however, the number of cells was less than that of the control group cells. While WNT3A immunoreactivity was similar in both groups, WNT11 and β-catenin immunoreactivities were decreased after PS-XLIV application. In addition, the PS-XLIV treated group exhibited significantly weaker Ki-67 immunoreactivity, STAT3 immunoreactivty was moderated after PS-XLIV application.

Conclusions
For the first time, the anticancer effects of PS-XLIV isolated from P. vulgaris on HCT116 cells were shown. The anticancer effect may involve PS-XLIV reducing WNT11, β-catenin, STAT3, and Ki-67 activation pathways in HCT116 cells.
ISU LINGKUNGAN DALAM CERITA TERDAMPAR DI DUNIA PLASTIK : IMPLIKASI UNTUK PEMBELAJARAN BAHASA INDONESIA RESPONSIF LINGKUNGAN
Authors: Anisa Sofiana Perdani  , Ambarwati Ari , Badrih Moh 
Published: January 2025

Tujuan dari penelitian ini adalah menjabarkan kerusakan alam yang diilustrasikan dalam cerita yang berjudul Terdampar di Dunia Plastik Karya Sukini. Penelitian ini menggunakan pendekatan ekologi sastra berdasarkan pada teori ekokritik. Metode yang digunakan adalah deskriptif kualitatif dengan cara menganalisa isu kerusakan lingkungan yang ada padacerita Terdampar di Dunia Plastik Karya Sukini. Hasil penelitiannya adalah bagaimana kerusakan lingkungan digambarkan dalam buku tersebut. Kerusakan itu meliputi kerusakan ekosistem laut, hutan, dan kehidupan manusia akibat sampah plastik yang sudah sangat meresahkan dan berbahaya. Implikasi penelitian ini adalah pemilihan materi ajar yang merespon kerusakan lingkungan untuk pembelajaran Bahasa Indonesia yang responsif lingkungan. Penggunaan materi ajar berkonten kerusakan lingkungan untuk membuat peserta didik terlibat lebih banyak dalam penyelesaian kerusakan lingkungan yang bisa dijangkau oleh peserta didik. Hal tersebut sebagai bentuk rasa peduli , keprihatinan, dan perhatian pada lingkungan alam, yang juga menjadi edukator untuk menyampaikan bahaya sampah plastik dan pentingnya menjaga lingkungan serta mengajak pembaca untuk menjadi spesialis perubahan yang dapat diandalkan dalam melindungi iklim dengan mengurangi penggunaan plastik sekali pakai seperti sedotan, karung plastik, dan botol air minum. Selain itu juga mengajarkan anak-anak tentang pentingnya menjaga lingkungan dan bertanggung jawab terhadap bumi kita
Pembelajaran Bahasa Indonesia bermuatan Ecopedagogis untuk Meningkatkan Kecerdasan Ekologis
Authors: Samsiyah Nur 
Published: January 2025

Ecological intelligence needs to be taught from elementary school age in order to have awareness of the environment. The aim of this research is to describe Indonesian language learning with eco pedagogical content to increase ecological awareness. The research method uses descriptive qualitative. The research subjects were 15 grade 5 students at SDN Bulu 3 Madiun. Data collection techniques were tests and observations. Data is analyzed by reviewing observation data, reduction by sorting data, presentation by organizing data, and data reduction. The results of the research show that environmental material in Indonesian language learning takes the form of caring for the environment and caring for waste. The observation results show that ecological awareness is in the high category with a score of 4. The implementation of Indonesian language learning has educational content, obtaining recycled products, posters, and observation reports. Meanwhile, the Indonesian language proficiency test results obtained an average of 78.
Literature Review: Factors Influencing Purchasing Decisions in the Service Industry
Authors: Umpusinga Hasrun Afandi , Warganegara Tri Lestira Putri , Alam Iskandar Ali , Habiburrahman Habiburrahman , Barusman Andala Rama Putra 
Published: January 2025

This research focuses on the factors that interact with each other and influence consumers' purchasing decisions, as well as how implementing effective marketing strategies can influence these decisions across various industry sectors. The purpose of the study is to examine studies that are relevant to purchase decisions, this study uses a qualitative method with a systematic literature study approach, which is an assessment and analysis of previous research related to purchase decisions, using the keywords "Purchase Decision" and "Travel" in the period from 2004 to 2024 (20 years). The results of the study found that purchasing decisions are influenced by cognitive dissonance, social influence, corporate alliances, brand equity, brand preferences, gender roles: female dominance, online forum browsing, price, online reviews, promotions, demographics, travel preferences, domestic family decisions, brand decisions, price decisions, circle of acquaintance decisions, compromises, temporal constructions, perceived ease of use, electronic word of mouth, content marketing, Brand image, lifestyle, trust in tour packages, trust in payment methods, intention to purchase tour services, promotion of online tour services, place of residence, previous purchase experience, information sources used and perception of reliability, professional status, age, education level, financial situation, and perception of value.
Optimization of Multiproduct Pipeline Pump Scheduling with Rigorous Description of Pipeline Operating Points
Authors: Lin Jianyang , Liu Gang , Chen Lei , He Yuyu 
Published: January 2025

Summary
Multiproduct pipelines are the main way of transporting petroleum products, and they have a crucial function in ensuring a consistent supply of energy to downstream consumers. Pipelines carry various oil products using a “back-to-back” method. An effective pump scheduling method can efficiently accomplish the transportation operation while minimizing energy consumption. In this work, we present a method for accurately tracking the operating points of multiproduct pipelines by taking into consideration the physical variations among different oil batches and the impact of complex topography on pressure loss. The proposed approach uses the discrete-time method. We developed a nonlinear integer programming (NIP) model and solved it using a genetic algorithm (GA) for scheduling pumps for multiproduct pipelines. The model takes into consideration batch tracking, flow rate, pressure, and delivery schedule constraints. Ultimately, we successfully applied the developed model in a multiproduct pipeline in China, and confirmed the model’s superiority through comparison with current models. The suggested approach may offer a multiproduct pipeline pump scheduling strategy that is more precise and effective.
A practical approach to choosing formulae for economic index numbers
Authors: Wood John 
Published: January 2025

Abstract

Traditional axiomatic, economic and stochastic approaches to choosing a formula for economic index numbers are based on theoretical considerations, with little regard to whether they reflect the actual circumstances affecting the markets to which they relate. This paper presents an approach to index number formulation based on how markets operate and presents a general, parameter-based formula for price and quantity indices. Two variants of this general formula cater for the “substitution effect” in different ways and one of these variants provides a practical expression for an economic-theoretic index based on purchasers' revealed preferences. Another variant applies this approach to short-term inflation indices. A final variant provides a straightforward means of estimating purchasing power parities for spatial indices. The analysis also emphasizes the importance of using coherent price and quantity indices, whose products generate the corresponding value indices.
Novel flaB gene variants of Leptospira interrogans detected in leptospirosis patient samples from the Western province of Sri Lanka
Authors: Handunnetti Shiroma , De Silva Yomendra , Weerasena Jagathpriya , Fernando Narmada , Sathkumara Harindra , Chandrapadma Nadeema , Premawansa Sunil , Rajapakse Senaka 
Published: January 2025

Abstract

Background
Leptospirosis caused by pathogenic spirochaetes of Leptospira spp remains the most widespread zoonotic disease in the world. Clinical status in leptospirosis patients varies from asymptomatic infection to mild illness to severe/fatal outcomes. The objective of this study was to determine the species of Leptospira that cause mild and severe infections, from patient blood samples obtained from the Western Province in Sri Lanka.
Methods
DNA extracted from 60 blood samples of previously confirmed leptospirosis patients by Lipl32 based Real Time PCR, and clinically characterized as mild and severe (n = 30 each) were used to perform nested PCR with primers designed from flaB gene sequence.
Results
Of the 45 samples that gave a 725 bp fragment in flaB nested PCR, 23 and 22 were from severe and mild leptospirosis patients respectively. Of these flaB PCR positive samples, 16 which exhibited strong bands (8 severe cases and 8 mild) were selected for Sanger’s dideoxy sequencing. The sequences obtained from 16 samples were deposited in GenBank. Those partial flaB gene sequences showed highest similarity with L. interrogans sequences available in GenBank database. Phylogenetic analysis was performed with 82 other randomly selected Leptospira flaB gene sequences (from the GenBank) by Neighbor-Joining method using MEGA 11 tool. According to dendrogram, 16 partial flaB gene sequences obtained in this study clustered together with L. interrogans. Three sequences, one from a severe leptospirosis patient and two from mild leptospirosis patients exhibited novel mutations. Computational analysis of the predicted amino acid substitutions in these three variants deduced from mutant DNA sequences with that of the wild type FlaB indicate possible functional changes in the flagellar protein. However, the impact of these novel mutations on the flagella assembly and motility could not be determined without functional confirmation. This highlights the need for further functional conformational studies to elucidate possible impact on motility which may influence the pathogenicity of different isolates of L. interrogans.