bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Case of Luscan-Lumish Syndrome: Possible Involvement of Enhanced GH Signaling
Authors: Suda Kentaro , Fukuoka Hidenori , Iguchi Genzo , Kanie Keitaro , Fujita Yasunori , Odake Yukiko , Matsumoto Ryusaku , Bando Hironori , Ito Hiroki , Takahashi Michiko , Chihara Kazuo , Nagai Hiroshi , Narumi Satoshi , Hasegawa Tomonobu , Ogawa Wataru , Takahashi Yutaka 
Published: November 2020

Abstract

Context
Luscan-Lumish syndrome (LLS) is characterized by postnatal overgrowth, obesity, Chiari I malformation, seizures, and intellectual disability. SET domain-containing protein 2 (SETD2) is a histone methyltransferase, where mutations in the gene are associated with the development of LLS. However, mechanisms underlying LLS remain unclear.

Case Description
A 20-year-old man was referred to our hospital because of tall stature. His body height was 188.2 cm (+3.18 SD) and he showed obesity with a body mass index of 28.4 kg/m2. He exhibited acral overgrowth, jaw malocclusion, and prognathism, but no history of seizures, intellectual disability, or speech delay. Serum growth hormone (GH), insulin-like growth factor 1 (IGF-1), and nadir GH levels after administration of 75 g oral glucose were within normal range. Pituitary magnetic resonance imaging showed no pituitary adenoma, but Chiari I malformation. Whole exome sequencing analysis of the proband revealed a de novo heterozygous germline mutation in SETD2 (c.236T&gt;A, p.L79H). Skin fibroblasts derived from the patient grew faster than those from his father and the control subject. In addition, these cells showed enhanced tyrosine phosphorylation and transcriptional activity of signal transducer and activator of transcription 5b (STAT5b) and increased IGF-1 expression induced by GH.

Conclusion
This is a mild case of LLS with a novel mutation in SETD2 without neurological symptoms. LLS should be differentiated in a patient with gigantism without pituitary tumors. Although further investigation is necessary, this is the first study to suggest the involvement of aberrant GH signaling in the development of LLS.
Microvascular Benefits of New Antidiabetic Agents: A Systematic Review and Network Meta-Analysis of Kidney Outcomes
Authors: Cha Ashley S , Chen Yilin , Fazioli Katherine , Rivara Matthew B , Devine Emily Beth 
Published: November 2020

AbstractContextDiabetic kidney disease affects nearly one-third of US adults with prevalent type 2 diabetes mellitus (T2DM). The use of new antidiabetic medications in the prevention and treatment of diabetic kidney disease is a growing area of research interest.ObjectiveWe sought to characterize the risk of developing a composite kidney outcome among patients receiving a new antidiabetic medication of the SGLT-2i, GLP-1ra, and DPP-4i drug classes.MethodsWe conducted a systematic literature search in MEDLINE to identify randomized trials observing kidney safety endpoints associated with the use of new antidiabetic medications. Two independent reviewers selected the 7 eligible studies for analysis. Included studies were published between January 2013 and March 2020, conducted with adult participantss, published full-text in English, and observed composite kidney outcomes. A network meta-analysis was conducted within a Bayesian framework using a fixed-effects model with uninformative priors.ResultsA qualitative assessment of transitivity was conducted to ensure similar distribution of potential modifiers across studies. Included studies were generally comparable in mean age, glycated hemoglobin A1c (HbA1c), and mean duration of T2DM at baseline.Main ConclusionsCompared with placebo, dapagliflozin was associated with the greatest reduction in risk of developing the composite kidney outcome (hazard ratio 0.53; 95% credible interval, 0.43-0.66) followed by empagliflozin, canagliflozin, semaglutide, and liraglutide. Linagliptin did not show a significant reduction in risk of the outcome.LimitationsThis analysis was limited by the scarcity of data for kidney safety endpoints in large, randomized clinical trials. Although the heterogeneity statistic was low, there are slight differences in study design and baseline demographic characteristics across trials.
Vitamin D-regulated Gene Expression Profiles: Species-specificity and Cell-specific Effects on Metabolism and Immunity
Authors: Dimitrov Vassil , Barbier Camille , Ismailova Aiten , Wang Yifei , Dmowski Katy , Salehi-Tabar Reyhaneh , Memari Babak , Groulx-Boivin Emilie , White John H 
Published: November 2020

Abstract
Vitamin D has pleiotropic physiological actions including immune system regulation, in addition to its classical role in calcium homeostasis. Hormonal 1,25-dihydroxyvitamin D (1,25D) signals through the nuclear vitamin D receptor, and large-scale expression profiling has provided numerous insights into its diverse physiological roles. To obtain a comprehensive picture of vitamin D signaling, we analyzed raw data from 94 (80 human, 14 mouse) expression profiles of genes regulated by 1,25D or its analogs. This identified several thousand distinct genes directly or indirectly up- or downregulated in a highly cell-specific manner in human cells using a 1.5-fold cut-off. There was significant overlap of biological processes regulated in human and mouse but minimal intersection between genes regulated in each species. Disease ontology clustering confirmed roles for 1,25D in immune homeostasis in several human cell types, and analysis of canonical pathways revealed novel and cell-specific roles of vitamin D in innate immunity. This included cell-specific regulation of several components of Nucleotide-binding Oligomerization Domain-like (NOD-like) pattern recognition receptor signaling, and metabolic events controlling innate immune responses. Notably, 1,25D selectively enhanced catabolism of branched-chain amino acids (BCAAs) in monocytic cells. BCAA levels regulate the major metabolic kinase mammalian Target of Rapamycin (mTOR), and pretreatment with 1,25D suppressed BCAA-dependent activation of mTOR signaling. Furthermore, ablation of BCAT1 expression in monocytic cells blocked 1,25D-induced increases in autophagy marker LAMP1. In conclusion, the data generated represents a powerful tool to further understand the diverse physiological roles of vitamin D signaling and provides multiple insights into mechanisms of innate immune regulation by 1,25D.
MicroRNA-7a2 Regulates Prolactin in Developing Lactotrophs and Prolactinoma Cells
Authors: LaPierre Mary P , Godbersen Svenja , Torres Esteban Mònica , Schad Anaïs Nura , Treier Mathias , Ghoshdastider Umesh , Stoffel Markus 
Published: November 2020

AbstractProlactin production is controlled by a complex and temporally dynamic network of factors. Despite this tightly coordinated system, pathological hyperprolactinemia is a common endocrine disorder that is often not understood, thereby highlighting the need to expand our molecular understanding of lactotroph cell regulation. MicroRNA-7 (miR-7) is the most highly expressed miRNA family in the pituitary gland and the loss of the miR-7 family member, miR-7a2, is sufficient to reduce prolactin gene expression in mice. Here, we used conditional loss-of-function and gain-of-function mouse models to characterize the function of miR-7a2 in lactotroph cells. We found that pituitary miR-7a2 expression undergoes developmental and sex hormone–dependent regulation. Unexpectedly, the loss of mir-7a2 induces a premature increase in prolactin expression and lactotroph abundance during embryonic development, followed by a gradual loss of prolactin into adulthood. On the other hand, lactotroph development is delayed in mice overexpressing miR-7a2. This regulation of lactotroph function by miR-7a2 involves complementary mechanisms in multiple cell populations. In mouse pituitary and rat prolactinoma cells, miR-7a2 represses its target Raf1, which promotes prolactin gene expression. These findings shed light on the complex regulation of prolactin production and may have implications for the physiological and pathological mechanisms underlying hyperprolactinemia.
Multiple Endocrine Neoplasia Type 1: Latest Insights
Authors: Brandi Maria Luisa , Agarwal Sunita K , Perrier Nancy D , Lines Kate E , Valk Gerlof D , Thakker Rajesh V 
Published: November 2020

AbstractMultiple endocrine neoplasia type 1 (MEN1), a rare tumor syndrome that is inherited in an autosomal dominant pattern, is continuing to raise great interest for endocrinology, gastroenterology, surgery, radiology, genetics, and molecular biology specialists. There have been 2 major clinical practice guidance papers published in the past 2 decades, with the most recent published 8 years ago. Since then, several new insights on the basic biology and clinical features of MEN1 have appeared in the literature, and those data are discussed in this review. The genetic and molecular interactions of the MEN1-encoded protein menin with transcription factors and chromatin-modifying proteins in cell signaling pathways mediated by transforming growth factor β/bone morphogenetic protein, a few nuclear receptors, Wnt/β-catenin, and Hedgehog, and preclinical studies in mouse models have facilitated the understanding of the pathogenesis of MEN1-associated tumors and potential pharmacological interventions. The advancements in genetic diagnosis have offered a chance to recognize MEN1-related conditions in germline MEN1 mutation–negative patients. There is rapidly accumulating knowledge about clinical presentation in children, adolescents, and pregnancy that is translatable into the management of these very fragile patients. The discoveries about the genetic and molecular signatures of sporadic neuroendocrine tumors support the development of clinical trials with novel targeted therapies, along with advancements in diagnostic tools and surgical approaches. Finally, quality of life studies in patients affected by MEN1 and related conditions represent an effort necessary to develop a pharmacoeconomic interpretation of the problem. Because advances are being made both broadly and in focused areas, this timely review presents and discusses those studies collectively.
Standardizing a unique renewable energy supply chain: the SURESC Model
Authors: Finocchi Emiliano 
Published: December 2020

This study intends to dig into the renewable energy industry and drawing from research on learning curves and energy polices, proposes a way to speed-up the energy shift from our fossil-fuel dependency to a green economy. Even though standard economic frameworks suggest that markets and not policy makers should decide winners and losers, we urge to accelerate renewable energy competitiveness, proposing that by limiting the number of renewable technologies where resources are allocated to at government level, we reduce the time within which renewables will achieve technological price parity with fossil fuels. In turn, by analyzing the energy demand and supply curves, the study suggests that this action will also mediate the relation between quantity and price, shifting only the supply curve, leaving the demand curve unaffected. It continues by proposing the standardization of a unique renewable energy supply chain model, later defined as the SURESC model. For such, a deep analysis on existing green technologies will be performed proposing the implementation of a hydrogen through ammonia economy via ammonia for power as key factor for success. This is a preliminary study, first of its kind, intended to provide a holistic approach to a known problem.
Danke für die Blumen. Kontinuierliches Feedback als Qualitätssicherung im Schreibcoaching
Authors: Hollosi-Boiger Christina 
Published: December 2020

ZusammenfassungSchreibcoaching ist eine personenzentrierte, längerfristige Entwicklungs- und Prozessbegleitung mit dem Fokus auf Schreibprozess, schreibender Person und/oder die entstehenden Texte. Aus Sicht des*der Coaches*in ist Schreibcoaching kein einmaliger Vorgang, sondern eine stetige Folge individueller Coachingprozesse. Auf diese sich wiederholenden Prozesse können Ansätze des Qualitätsmanagements übertragen werden, was in der Qualitätsdiskussion im Coaching allgemein bereits geschieht. Das vorgestellte Modell des Qualitätsmanagementsystems für das Schreibcoaching zeigt auf, dass Qualitätsmonitoring in allen Phasen erfolgen und sich konstitutiv auf das Coaching bzw. den Coachingerfolg auswirken kann. Grundlage hierfür bildet ein von dem*der Schreibcoach*in gesteuertes Qualitätskonzept, das Werte, Grundhaltungen und einen operationalisierten Qualitätsbegriff beinhaltet, und in Form eines Leitbilds veröffentlicht werden sollte. Das Fallbeispiel belegt die Umsetzbarkeit des Modells: Qualitätsmessungen aus 22 Schreibcoachings aus dem Bezugsrahmen des beruflichen Schreibens wurden mit der FeedbacktechnikDanke für die Blumendurchgeführt. Diese basiert auf der Blitzlicht-Technik und wurde flächendeckend und kontinuierlich in den Schreibcoachings der Autorin eingesetzt. Die Ergebnisse wurden mittels der inhaltlich strukturierenden, qualitativen Inhaltsanalyse nach Kuckartz rekurrierend auf die Qualitätskriterien im BC-Modell und einer deskriptiv-explorativen statistischen Analyse ausgewertet. Die Ergebnisse zeigen, dass abhängig von den Coachingzielen unterschiedliche Wahrnehmungen zum Schreibcoaching und zur Schreibcoach dominieren, diese sich dennoch über alle Qualitätsdimensionen des Schreibcoachings verteilen. Ein Abgleich mit dem Qualitätskonzept ist daher möglich und kann in einem wiederkehrenden Reflexionsprozess als Entscheidungsgrundlage für das Herbeiführen von Veränderungen herangezogen werden.
Incidence of Acute Myeloid Leukemia and Myelodysplastic Syndrome in Patients With Inflammatory Bowel Disease and the Impact of Thiopurines on Their Risk
Authors: Khan Nabeel , Patel Dhruvan , Trivedi Chinmay , Kavani Himanshu , Pernes Tyler , Medvedeva Elina , Lewis James , Xie Dawei , Yang Yu-Xiao 
Published: November 2020

INTRODUCTION:
Acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) are rare myeloid clonal disorders that commonly affect the elderly population and have poor prognosis. There are limited data on the risk of AML/MDS among patients with inflammatory bowel disease (IBD), especially on the impact of thiopurines (TPs).

METHODS:
We conducted a retrospective cohort study among patients with IBD from Veteran Affairs data set. The exposure of interest was TP exposure: (i) never exposed to TPs, (ii) past TP use (discontinued >6 months ago), (iii) current TP use with a cumulative exposure of <2 years, and (iv) current TP use with a cumulative exposure of ≥2 years. The outcome of interest was a composite outcome of incident diagnosis of AML and/or MDS. Cox regression was used to estimate the adjusted and unadjusted hazard ratios (HRs) with 95% confidence intervals (CIs) for AML/MDS risk associated with TP use defined as a time-varying exposure.

RESULTS:
Among 56,314 study patients, 107 developed AML/MDS. The overall incidence of AML/MDS in the IBD population was 18.7 per 100,000 patient-years. The incidences among those never exposed to TPs, past users of TPs, current users of TPs with a cumulative exposure of <2 years, and current users of TPs with a cumulative exposure of ≥2 years were 17.0, 17.7, 30.4, and 30.3 per 100,000 patient-years, respectively. In multivariable Cox regression analysis, compared with never exposed to TPs, current use of TPs was associated with increased risk (adjusted HR 3.05; 95% CI 1.54–6.06, P = 0.0014 for current use of TPs with a cumulative exposure of <2 years and adjusted HR 2.32; 95% CI 1.22–4.41, P = 0.0101 for current use of TPs with a cumulative exposure of ≥2 years), whereas past TP exposure was not.

DISCUSSION:
Among patients with IBD, current TP use was associated with an increased risk of AML/MDS, which reverts to baseline after discontinuation of TP use.
Direct Ink Writing Method for Manufacturing Electronic Circuits Using Multiwalled Carbon Nanotubes and Polyvinyl Alcohol Composites
Authors: Ahammed Syed Riyaz , Praveen Ayyappan Susila 
Published: December 2020

Abstract
Usage of conductive materials for manufacturing electronic circuits using 3D printing methods plays a prominent role in sensing applications and has achieved significant growth in recent years. This growth has led to the development of stretchable, flexible electronics and wearable electronics that are useful as sensing applications in the fields of real-time health monitoring systems. In this paper, a multiwalled carbon nanotube (MWCNT)-based electronic circuit was developed using the 3D printing technique called direct ink writing (DIW). Polyvinyl alcohol (PVA) was used as the binder material to make the MWCNT ink for printing. Different concentrations of MWCNT ink were prepared using 5, 10, and 15 wt. % PVA solutions. The viscosity of MWCNT inks was measured using a rheometer (cone and plate type). The ink exhibited shear thinning behavior, which is suitable for DIW. Finally, the printing of a designed electronic circuit was carried out using a pneumatic extrusion–based 3D printer. The strain sensor circuit—measuring 20 mm long, 9.2 mm wide, and 0.8 mm thick—is manufactured by the 3D printer. Electrical resistivity of strain sensor circuit is evaluated by adopting a two-probe method; the observed resistivity value was 1.7 × 10−2 Ωm for MWCNT ink made with 10 wt. % PVA solution and 1.97 × 10−2 Ωm for MWCNT ink made with 15 wt. % PVA solution.
A REVIEW ON TECHNOLOGY READINESS CONCEPT TO EXPLAIN CONSUMER’S ONLINE PURCHASE INTENTION
Authors: Ismail Khairull Anuar , Abdul Wahid Nabsiah 
Published: November 2020

Recently in Malaysia, a substantial number of consumers have been found to be avoiding online shopping as they prefer to shop in physical stores. This scenario brings up the issue of whether Malaysian consumers are ready technologically to shop online. To tackle this issue, a review of the concept of technology readiness is made to help explain Malaysian consumers’ online purchase intention behaviour. Technology readiness is chosen here because the concept reflects an individual’s predisposition in the usage and adoption of new technology. For the purpose of this review, this study selects technology readiness concept as proposed by Parasuraman (2000). From the review, this study found that technology readiness has been measured in the past either as a single (unidimensional) or a multidimensional construct involving four factors, namely, optimism, innovativeness, discomfort and insecurity. A summary on past researchers’ findings in identifying the relationship between technology readiness (and its proposed dimensions) with technology usage is included in this review. For example, technology readiness was found to have a significant influence on behavioural intention in using mobile commerce to purchase travel-related service. Additionally, technology readiness motivator (optimism and innovativeness) and inhibitor (discomfort and insecurity) were identified to be related to intention to use technology. Based on the review, this study proposes a model to help explain the user’s intention to purchase online situation. In the proposed model, both technology readiness motivators and inhibitors are suggested to show positive and negative influences respectively on the user’s intention to purchase online. This review is thought to be beneficial to many. For instance, researchers would find insights on the usefulness of technology readiness and on how it has been and can be applied for further investigation. As for marketing practitioners, the review would help guide them understand the influence technology readiness has on consumers behaviour intention in adopting online shopping which they could apply for future marketing strategy.
Pre-prosthetic Orthodontic Implant for an Aesthetic Rehabilitation : A Case Report
Authors: Houb-dine Afaf , Regragui Anissa , Benkaddour Asmaa , Bahoum Asmaa , Zaoui Fatima 
Published: November 2020

A combination of dental problems such as missing teeth, proclination of teeth and occlusal problems cannot be satisfactorily treated by prosthodontic approach alone. The rehabilitation of patients requiring an esthetic smile demands the collaboration of multiple dental specialists. the need for orthodontic tooth movement prior to restorative treatment is necessary for some patients, in order to optimize both esthetic and functional aspects of dental treatment.The present case report achieved successful implant based oral rehabilitation in a patient with absence of the right maxillary central incisor utilizing a preprosthetic orthodontic implant site preparation for the purpose of space gain.
The Origin of Paleozoic Terranes in Northeastern Asia: Geologic Evidence for Rifting of the Pericratonic Margin of the Siberian Paleocontinent and for Migration of Its Fragments
Authors: Kanygin A.V. , Gonta T.V. , Timokhin A.V. 
Published: November 2020

Abstract
––The paper provides an insight into the geodynamic history of the Northeast Asian terranes during the Paleozoic, focused on the stratigraphic, paleontological, and sedimentological data indicating that the Precambrian structures of early–middle Paleozoic age were originally part of the passive margin of the Siberian paleocontinent. The geological and paleontological data presented in the foregoing studies have shown the inherited geodynamic regime and synchronous sedimentation and magmatism on the passive continental margin and in most terranes before their separation from the Siberian paleocontinent in the late Paleozoic. The revealed significant differences in evolution between the Okhotsk and Omolon and other terranes give grounds to postulate that they rifted off the paleocontinent even earlier.
Hydrogeochemistry of Pre-Jurassic Aquifers in West Siberia
Authors: Novikov D.A. , Dultsev F.F. , Chernykh A.V. , Khilko V.A. , Yurchik I.I. , Sukhorukova A.F. 
Published: November 2020

Abstract
––For the first time in the last 35 years, hydrogeochemical data on pre-Jurassic complexes in West Siberia have been generalized. Groundwater and brines of Cl–Na and Cl–HCO3–Na type with total salinity (TDS) varying from 4 to 330 g/L are found to be widespread in the area under study, with the former type dominating. A detailed analysis of the hydrogeochemical data allowed us to assume the presence of three genetic groups of groundwater and brines in the hydrogeologic section: (1) sedimentogenic, (2) lithogenic (revived) and ancient infiltrogenic, and (3) condensatogenic. An integrated analysis of coefficients rNa/rCl, Ca/Cl, (Br/Cl)·10–3, and (Sr/Cl)·10–3 and integrated index S of brine metamorphization in the Siberian sedimentary basins has corroborated the fact that groundwater and brines in West Siberia are at the initial stage of metamorphization of their chemical composition. Groundwater and brines in the studied Siberian sedimentary basins show an increase in the degree of metamorphization (catagenetic changes) of their chemical composition in transition from the areas of igneous and metamorphic deposits at the base of the Meso–Cenozoic sedimentary cover of the young West Siberian sedimentary basin to the structures of the ancient Siberian Platform, where ultrastrong Ca–Na and Ca chloride brines are widespread.