bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors
Authors: Maloney Kristin A. , Mizerik Elizabeth , King Robin H. , McGinnis Erin M. , Perkowitz Susan , Diamonstein Callie J. , Schmanski Andrew A. , Saliganan Sheila , Shipper Andrea G. , Udler Miriam S. , Guan Yue , Pollin Toni I. 
Published: August 2023

AbstractDiabetes mellitus is a group of diseases characterized by hyperglycemia and its consequences, affecting over 34 million individuals in the United States and 422 million worldwide. While most diabetes is polygenic and is classified as type 1 (T1D), type 2 (T2D), or gestational diabetes (GDM), at least 0.4% of all diabetes is monogenic in nature. Correct diagnosis of monogenic diabetes has important implications for glycemic management and genetic counseling. We provide this Practice Resource to familiarize the genetic counseling community with (1) the existence of monogenic diabetes, (2) how it differs from more common polygenic/complex diabetes types, (3) the advantage of a correct diagnosis, and (4) guidance for identifying, counseling, and testing patients and families with suspected monogenic diabetes. This document is intended for genetic counselors and other healthcare professionals providing clinical services in any setting, with the goal of maximizing the likelihood of a correct diagnosis of monogenic diabetes and access to related care.
Multimodal management of tenosynovial giant cell tumors (TGCT) in the landscape of new druggable targets
Authors: van der Heijden Lizz , Spierenburg Geert , Kendal Joseph K. , Bernthal Nicholas M. , van de Sande Michiel A. J. 
Published: August 2023

AbstractTenosynovial giant cell tumor (TGCT) is a rare, benign, locally aggressive synovial based neoplastic process that can result in functional debilitation and end‐stage arthrtitis. Although surgical resection is the primary treatment modality, novel systemic therapies are emerging as part of the multimodal armamentarium for patients with unresectable or complex disease burden. This review discusses the pathogenesis of TGCT, potential druggable targets and therapeutic approaches. It also evaluates the safety and efficacy of different systemic therapies.
The permutations with n non‐fixed points and the subsets with n elements of a set
Authors: Panasawatwong Supakun , Vejjajiva Pimpen 
Published: August 2023

AbstractWe write and for the cardinalities of the set of permutations with n non‐fixed points and the set of subsets with n elements, respectively, of a set which is of cardinality , where n is a natural number greater than 1. With the Axiom of Choice, and are equal for all infinite cardinals . We show, in ZF, that if is assumed, then for any infinite cardinal . Moreover, the assumption cannot be removed for and the superscript cannot be replaced by n. We also show under that for any infinite cardinal , implies is Dedekind‐infinite.
Anticoagulation strategies in patients with extracorporeal membrane oxygenation: A network meta‐analysis and systematic review
Authors: Chen Jiale , Chen Guoquan , Zhao Wenyi , Peng Wenxing 
Published: August 2023

AbstractObjectivesExtracorporeal membrane oxygenation (ECMO) plays an important role in providing temporary life support for patients with severe cardiac or pulmonary failure, but requires strict anticoagulation and monitoring. This network meta‐analysis systematically explored the most effective anticoagulation and monitoring strategies for patients receiving ECMO.MethodsMEDLINE, Embase, Web of Science, and the Cochrane Central Register of Controlled Trials were searched up to January 31, 2023, for studies comparing unfractionated heparin (UFH), argatroban (Arg), bivalirudin (Biv), and/or nafamostat mesylate (NM) in patients receiving ECMO. The primary outcomes included device‐related thrombosis, patient‐related thrombosis, and major bleeding events. The secondary outcomes included ECMO survival, ECMO duration, and in‐hospital mortality.ResultsA total of 2522 patients from 23 trials were included in the study. Biv was associated with a decreased risk of device‐related thrombosis (odd ratio [OR] 0.51, 95% confidence interval [CI]: 0.33–0.84) compared with UFH, whereas NM (OR 2.2, 95% CI: 0.24–65.0) and Arg (OR 0.92, 95% CI: 0.43–2.0) did not reduce the risk of device‐related thrombosis compared with UFH. Biv was superior to Arg in decreasing the risk of device‐related thrombosis (OR 0.14, 95% CI: 0.03–0.51). Biv reduced the risk of patient‐related thrombosis compared with UFH (OR 0.44, 95% CI: 0.18–0.85); NM (OR 0.65, 95% CI: 0.14–3.3) and Arg (OR 3.1, 95% CI: 0.94–12.0) did not decrease risk of patient‐related thrombosis compared with UFH. No significant difference was observed in the risk of major bleeding between three alternatives and UFH: Biv (OR 0.54, 95% CI: 0.23–1.3), Arg (OR 1.3, 95% CI: 0.34–5.8), and NM (OR 0.60, 95% CI: 0.13–2.6). NM showed a reduced risk of in‐hospital mortality compared with UFH (OR 0.27, 95% CI: 0.091–0.77), whereas Arg (OR 0.43, 95% CI: 0.15–1.2) and Biv (OR 0.75, 95% CI: 0.52–1.1) did not decrease risk of in‐hospital mortality.ConclusionsCompared with UFH and Arg, Biv reduces the risk of thrombosis and appears to be a better choice for patients requiring ECMO. NM was associated with a reduced risk of in‐hospital mortality.
A top‐down proteomic approach reveals a salivary protein profile able to classify Parkinson's disease with respect to Alzheimer's disease patients and to healthy controls
Authors: Contini Cristina , Fadda Laura , Lai Greca , Masala Carla , Olianas Alessandra , Castagnola Massimo , Messana Irene , Iavarone Federica , Bizzarro Alessandra , Masullo Carlo , Solla Paolo , Defazio Giovanni , Manconi Barbara , Diaz Giacomo , Cabras Tiziana 
Published: August 2023

AbstractParkinson's disease (PD) is a complex neurodegenerative disease with motor and non‐motor symptoms. Diagnosis is complicated by lack of reliable biomarkers. To individuate peptides and/or proteins with diagnostic potential for early diagnosis, severity and discrimination from similar pathologies, the salivary proteome in 36 PD patients was investigated in comparison with 36 healthy controls (HC) and 35 Alzheimer's disease (AD) patients. A top‐down platform based on HPLC‐ESI‐IT‐MS allowed characterizing and quantifying intact peptides, small proteins and their PTMs (overall 51). The three groups showed significantly different protein profiles, PD showed the highest levels of cystatin SA and antileukoproteinase and the lowest of cystatin SN and some statherin proteoforms. HC exhibited the lowest abundance of thymosin β4, short S100A9, cystatin A, and dimeric cystatin B. AD patients showed the highest abundance of α‐defensins and short oxidized S100A9. Moreover, different proteoforms of the same protein, as S‐cysteinylated and S‐glutathionylated cystatin B, showed opposite trends in the two pathological groups. Statherin, cystatins SA and SN classified accurately PD from HC and AD subjects. α‐defensins, histatin 1, oxidized S100A9, and P‐B fragments were the best classifying factors between PD and AD patients. Interestingly statherin and thymosin β4 correlated with defective olfactory functions in PD patients. All these outcomes highlighted implications of specific proteoforms involved in the innate‐immune response and inflammation regulation at oral and systemic level, suggesting a possible panel of molecular and clinical markers suitable to recognize subjects affected by PD.
Erythritol sprays reduce Drosophila suzukii infestation without impacting honey bee visitation nor fruit quality
Authors: Lee Jana C , Price Briana E , Adams Chris G , Rutkowski Emily , Choi Man‐Yeon 
Published: August 2023

AbstractBACKGROUNDSpotted‐wing drosophila, Drosophila suzukii, is an economic pest of small fruits and cherries. Insecticides primarily control this pest while alternative controls are in development. Laboratory studies show that erythritol is insecticidal to D. suzukii and other pests while approved for human consumption. Moreover, erythritol combined with sucrose or non‐caloric sucralose can stimulate feeding and quicken mortality. Before growers can use erythritol, the impact on crop protection, non‐target insects, and fruit quality need evaluation.RESULTSIn three blueberry and cherry field cage trials, oviposition on fruit sprayed with erythritol:sucrose or erythritol:sucralose formulations was lowered by 59%–81% compared with unsprayed controls. Fly infestation (larval or adult counts from fruit) was 90% lower in a greenhouse blueberry trial, and 49% lower in an open field blueberry trial with 2 m erythritol : 0.5 m sucrose. Infestation was also 57% lower in an open field cherry trial with 1.5 m erythritol:0.5 m sucrose. Other field trials with very low pest pressure or frequent rains revealed no differences from controls. Field trials consistently revealed that honey bees did not preferentially visit plants sprayed with either erythritol formulation, although yellow jackets visited plants sprayed with erythritol:sucrose more frequently. Erythritol formulations consistently led to more leaf spotting, but there was no reduction in the quality of treated blueberries or cherries in terms of mold development, firmness, diameter, epidermal penetration force, and Brix° (total soluble solids) at harvest.CONCLUSIONEleven trials conducted over four years show that erythritol formulations can reduce D. suzukii pressure without attracting foraging honey bees nor negatively impacting fruit quality. © 2023 Society of Chemical Industry. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
Process parameter study and kinetic of remazol dye adsorption onto local rice husk‐based organic porous materials
Authors: Rahim Nurul Elia Aqila Abu , Azelee Nur Izyan Wan , Ghazali Mohd Nazlee Faisal Md , Ismail Noor Mohd Syeqqal , Abdul Manas Nor Hasmaliana 
Published: August 2023

AbstractRemazol Brilliant Blue dye (RBB) is a harmful dye from the textile industry that can damage the environment and aquatic life. Since RBB is impossible to degrade in water by primary and secondary wastewater treatment, its removal is a challenge. An excellent treatment procedure is urgently anticipated to avoid the pollution spreading into the environment. Moreover, rice husk waste (RH) in Malaysia is abundant and generally dumped into landfills. Turning the waste into a value‐added product such as biochar as an effective adsorbent material for treating water pollutants is one of the initiatives in realizing the circular economy agenda. This study develops an organic porous material of biochar from RH and assesses the kinetic of RBB adsorption onto the rice husk biochar (RHB) in aqueous solution. The production of RHB was optimized by pyrolysis procedure at various temperatures, times, and particle sizes. The removal of RBB dye by RHB was investigated at different exposure times from 0 to 120 min under 100 rpm shaken and immersed conditions. The reduction of RBB concentrations using different RHB pyrolysis conditions has also been investigated. The dye removal efficiency by RHB increased with time and the highest removal efficiency (69.3%) was achieved by the smallest particle size of RHB which was produced at the highest pyrolysis temperature of 400°C (RHB‐400). The total pore volume and BET surface area of RHB‐400 were found to be 50.4827 m2/g and 0.00875 cm3/g, respectively. The adsorption kinetic study signifies that maximum adsorption has been completed within 90–120 min depending on the RHB conditions whereas two kinetic models such as pseudo‐first order and pseudo‐second order kinetic models were utilized to fit the experimental data and the results are more consistent with pseudo‐second order kinetic models. This study revealed that RHB can be used as adsorbent materials for dye removals, yet it is economical, environmentally friendly, and sustainable.
Wertigkeit von Patient-Reported Outcome Measures zur Bewertung des Versorgungsvorteils der Sprachprozessorumversorgung bei Patient/-innen mit Cochleaimplantaten
Authors: Lailach Susen , Lenz Alexander , Zahnert Thomas , Neudert Marcus 
Published: August 2023

Zusammenfassung
Hintergrund
Bei mit einem Cochleaimplantat (CI) versorgten Patient/-innen sollte alle 6 Jahre die Versorgung mit einem neuen Sprachprozessor geprüft werden. Ziel der Analyse ist die Erfassung des subjektiven und audiologischen Nutzens durch die Umversorgung.

Methodik
Das Sprachverstehen und der subjektive Nutzen wurden von 99 Patient/-innen mit dem alten sowie dem neuen Sprachprozessor nach 4‑wöchiger Tragezeit analysiert. Das Sprachverstehen wurde mittels Freiburger Einsilbertest in Ruhe (FBE) bei 65 dB sowie 80 dB und Oldenburger Satztest (OlSa) bei 65 dB Störgeräusch und adaptivem Sprachschallpegel ermittelt. Zur Erfassung der subjektiven Hörbeeinträchtigung wurde der Abbreviated Profile of Hearing Aid Benefit (APHAB), zur Bewertung der subjektiven Zufriedenheit der Audio Processor Satisfaction Questionnaire (APSQ) herangezogen.

Ergebnisse
Die Sprachprozessorumversorgung führte zu einer signifikanten Verbesserung des Sprachverstehens in Ruhe bei 65 dB (mittlere Differenz 8,9 ± 25,9 Prozentpunkte, p < 0,001) und 80 dB (mittlere Differenz 8,1 ± 29,7 Prozentpunkte, p < 0,001) sowie im Störgeräusch (mittlere Differenz 3,2 ± 10,7 dB S/N, Signal-Rausch-Abstand; p = 0,006). Anhand des APHAB konnte eine signifikante Verbesserung (mittlere Differenz 0,07 ± 0,16; p < 0,001) der Hörbeeinträchtigung in allen Hörsituationen nachgewiesen werden. Der APSQ zeigte eine signifikant höhere Zufriedenheit der Patient/-innen mit dem neuen Sprachprozessor (mittlere Differenz: 0,42 ± 1,26; p = 0,006). Bei vergleichender Bewertung des Versorgungsvorteils anhand subjektiver und sprachaudiometrischer Ergebnisse konnte ein Anteil von 35–42 % der Patient/-innen identifiziert werden, welcher subjektiv von der Umversorgung profitierte, jedoch keinen sprachaudiometrisch messbaren Versorgungsvorteil hatte.

Schlussfolgerung
Es zeigte sich eine signifikante Verbesserung des audiologisch messbaren und subjektiv reflektierten Sprachverstehens sowie der Zufriedenheit der Patient/-innen nach Umversorgung. Bei Patient/-innen mit nur geringer Verbesserung des audiologisch messbaren Sprachverstehens sollte zusätzlich der subjektive Nutzen mit validierten Messinstrumenten erfasst werden, um gegenüber den Kostenträgern eine Umversorgung zu begründen.
Lumbar puncture position in infants—a systematic review and meta-analysis
Authors: Kuitunen Ilari , Renko Marjo 
Published: August 2023

AbstractTo analyze the optimal lumbar puncture position in infants. A systematic review and meta-analysis. Infants (age < 1 year). December 2022 in PubMed, Scopus, and Web of Science. Randomized controlled trials focusing on lumbar puncture positions were included. Other lumbar puncture position than standard lateral decubitus position. First puncture success and overall success rate. Secondary outcome was desaturation during puncture and procedure-related harms. Risk of bias 2.0 assessment was performed. Outcomes are reported as risk ratios (RR) with 95% confidence intervals (CI). We screened 225 abstracts, and six studies were included. Four studies compared sitting position, one study head elevated lateral position, and one study prone position to lateral position. Risk of bias was high in two studies. First puncture success rate in sitting position (RR 1.00, CI: 0.78–1.18; 2 studies) and overall success rate in sitting position were similar to lateral position (RR 0.97, CI: 0.87–1.17; 3 studies). First attempt success rate was higher in elevated lateral position (RR 1.48, CI: 1.14–1.92; 1 study) and in prone position (RR 1.09, CI: 1.00–1.17; 1 study). Conclusion: Sitting position seems to be equally effective in terms of first attempt and overall success in lumbar puncture than standard lateral position. Elevated lateral position and prone positions had better first attempt success than standard lateral position, but these were assessed only in one study each and thus further studies in these positions are needed. Trial registration: This review was registered in PROSPERO. ID: CRD42022382953.

What is Known:• Success rate in lumbar puncture has been poor and first attempt success rate has varied between 50 to 80% in literature.• Optimal lumbar puncture positions for infants have been debated between sitting and lateral decubitus position mostly.

What is New:• This is the first meta-analysis focused on lumbar puncture positions in infants, and it found that sitting position was equal to standard lateral position.• Prone position and head elevated lateral positions had higher first puncture success rates, but these were assessed both only in one study, which creates uncertainty to the finding.
The relationship between antidepressants and breast cancer: evidence from Mendelian randomization
Authors: Niu Dong , Li Chenchen , Yan Xiaoyu , Qu Haoran , Zheng Yuling 
Published: August 2023

Abstract
Background
The use of antidepressants has increased over the years, but the relationship between antidepressant use and the risk of breast cancer is not uniform because of confounding factors. We aimed to assess the effect of antidepressants on breast cancer risk using a two-sample Mendelian randomization (MR) approach.stet

Methods
Secondary data analysis was performed on pooled data from genome-wide association studies based on single-nucleotide polymorphisms that were highly correlated with antidepressants, SSRI drugs, and serotonin and prolactin levels were selected as instrumental variables to evaluate the association between antidepressants and SSRI drugs and prolactin levels with breast cancer and ER+/ER- breast cancer. We then performed a test of the hypothesis that SSRI drugs elevate prolactin concentrations. We performed two-sample Mendelian randomization analyses using inverse variance weighting, MR-Egger regression, and weighted median methods, respectively.

Results
There was no significant risk association between antidepressant and SSRI use and the development of breast cancer, ER-positive or ER-negative breast cancer (P > 0.05), and serotonin concentration was not associated with breast cancer risk (P > 0.05). There was a positive causal relationship between prolactin levels and breast cancer (IVW, P = 0.02, OR = 1.058) and ER-positive breast cancer (Weighted median, P = 0.043, OR = 1.141; IVW, P = 0.009, OR = 1.125). Results in SSRI medication and prolactin levels showed no association between SSRI analogs and prolactin levels (P > 0.05).

Conclusion
Large MR analysis showed that antidepressants as well as SSRI drugs were not associated with breast cancer risk and the SSRI-prolactin-breast cancer hypothesis did not hold in our analysis.
Co-movements between forward prices and resource availability in hydro-dominated electricity markets
Authors: Kleiven Andreas , Risanger Simon , Fleten Stein-Erik 
Published: August 2023

AbstractHydropower producers estimate the opportunity value of their water, known as a water value, by comparing current prices to future opportunities. When hydropower dominates the energy mix, the system’s hydrological state predominantly governs supply and thus prices. Despite this intuitive relationship, industry practice is to assume that inflow to reservoirs and prices are independent when they establish operational policies 1–2 years ahead. To investigate the impact of this assumption, we formulate the hydropower scheduling problem as a Markov decision process and develop a novel price model that considers the joint dynamics of forward prices and inflows. We find that producers underestimate their water value when they ignore co-movements between price and inflow. The dependency makes producers more willing to postpone generation and tolerate slightly higher spillage risk. This is because high inflow periods tend to observe low prices and the reservoir capacity is limited. Nevertheless, a case study of a hydropower plant with industry data suggests modest economic losses in practice. Our numerical results suggest a potential gain of 0.17% in expected revenue and approximately unchanged revenue variance if producers consider the co-movements when establishing an operational policy.
Mathematical modeling, analysis and control in soft robotics: a survey
Authors: Ortigosa-Martínez Rogelio , Martínez-Frutos Jesús , Mora-Corral Carlos , Pedregal Pablo , Periago Francisco 
Published: August 2023

AbstractThis paper reviews some recent advances in mathematical modeling, analysis and control, both from the theoretical and numerical viewpoints, in the emergent field of soft robotics. The presentation is not focused on specific prototypes of soft robots, but in a more general description of soft smart materials. The goal is to provide a unified and rigorous mathematical approach to open-loop control strategies for soft materials that hopefully might lay the seeds for future research in this field.
Geochemical and mineralogical evaluations of coal, shale, and mine waste overburden from Makum coalfield of the Northeast India
Authors: Bhuyan Nilotpol , Islam Nazrul , Saikia Monikankana , Hower James C. , Saikia Binoy K. 
Published: August 2023

AbstractThe Cenozoic-age Makum coal from northeastern India offers numerous research opportunities because of its diverse geochemical and geological characteristics. Due to its high sulfur content, the coal has been found to be less useful for industrial purposes. It can, however, serve as a hub for ongoing research on coal-based derivative products. The aim of this research work is to investigate the mineralogical and geochemical compositions of the coal, mine overburden (MOB) and shale samples taken from the Makum coal field and also on establishing a mutual relationship between them. To characterize the geochemical controlling factors of the Makum coal field, the study employs coal petrography, FTIR, mineralogical, and geochemical analysis. According to X-ray diffraction analysis, the major minerals like quartz, kaolinite, haematite, illite, pyrite, and calcite are present in coal and MOB. Pyrite is observed by SEM–EDS analysis as cubic-shaped particles that are smaller than a few µm in size. The presence of sulfide minerals represents a phase of pyrite mineralization. The petrography study was used to better understand the environment that existed during the formation of the plant material, which aids us in determining the quantity of detrital mineral sediment contained in the coal. According to the ICP-MS analysis, the samples indicate significant levels of rare earth elements including yttrium. The present study reveals higher concentrations of potential hazardous elements in the coal samples, with V, Cr, Ni, Cu, and Zn content in coal being considerably enriched compared to world-average concentrations. The correlation analysis reveals that the potential hazardous elements like Co, Ni, As, and Cu are associated with pyrite as they have strong affinity towards pyrite. Thus, numerous minerals and rare earth elements (REEs) exist, opening up a fresh avenue for more research in the area. This study also assists researchers in understanding the significance of Makum coal and provides numerous ideas for coal characterization.