bluuebunny/crossref_metadata_2025_split huggingface dataset:
MYRF Variants in Patients With 46,XY Differences/Disorders of Sex Development and Literature Review
Authors: Zhang Wei , Wang Xi , Mao Jiangfeng , Cao Yaqing , Zhang Xiaoxia , Nie Min , Wu Xueyan 
Published: January 2025

ABSTRACT46,XY differences/disorders of sex development (DSD) are genetically heterogeneous conditions characterized by atypical development of the reproductive system. MYRF, a gene encoding a transcription factor, has been identified as a potential causative gene for DSD and cardiac urogenital syndrome (CUGS). This study aims to delineate the clinical manifestations of patients with 46,XY DSD and MYRF mutations, encompassing both from our cohort and cases reported in the literature. Patients with 46,XY DSD were recruited from Peking Union Medical College Hospital and identified through a comprehensive review of published literature. Whole‐exome sequencing was conducted to elucidate the genetic etiology. Comprehensive clinical data, including physical examination findings, hormonal profiles, and imaging results, were retrospectively gathered from medical records and published sources. Three of our patients with 46,XY DSD were found to harbor heterozygous loss‐of‐function mutations in the MYRF gene, including the recurrent variant c.789dup and two novel variants c.1915C>T and c.2154del. The patients exhibited underdeveloped testicular tissue, inadequate masculinization, and the persistence of Müllerian ducts. A review of the literature indentified 31 MYRF‐linked 46,XY DSD patients and two 46,XX DSD patients. Among these, 11 cases presented with isolated testicular dysgenesis, 20 cases exhibited severe cardiopulmonary issues, and the majority of patients had congenital diaphragmatic hernia. Genetic analysis revealed 26 distinct MYRF variants among these patients, including 10 missense, 8 frameshift, 5 nonsense, and 3 splice site alterations, affecting critical domains of the MYRF gene. Our study broadens the spectrum of MYRF mutations in 46,XY DSD patients and highlighting the gene's indispensable role in gonadal development. However, a clear genotype–phenotype correlation in MYRF‐related DSD remain elusive.
Association of rapid eye movement sleep latency with multimodal biomarkers of Alzheimer's disease
Authors: Jin Jiangli , Chen Jiong , Cavaillès Clémence , Yaffe Kristine , Winer Joseph , Stankeviciute Laura , Lucey Brendan P. , Zhou Xiao , Gao Song , Peng Dantao , Leng Yue 
Published: January 2025

AbstractINTRODUCTIONSleep disturbances are associated with Alzheimer's disease (AD) and Alzheimer's disease and related dementias (ADRD), but the relationship between sleep architecture, particularly rapid eye movement (REM) sleep, and AD/ADRD biomarkers remains unclear.METHODSWe enrolled 128 adults (64 with Alzheimer's disease, 41 with mild cognitive impairment [MCI], and 23 with normal cognition [NC]), mean age 70.8 ± 9.6 years, 56.9% female, from a tertiary hospital in China. Participants underwent overnight polysomnography (PSG), amyloid β (Aβ) positron emission tomography (PET), and plasma biomarker analysis: phosphorylated tau at threonine 181 (p‐tau181), neurofilament light (NfL), and brain‐derived neurotrophic factor (BDNF).RESULTSAfter adjusting for demographics, apolipoprotein E (APOE) ε4 status, cognition, and comorbidities, the highest tertile of REM latency was associated with higher Aβ burden (β = 0.08, 95% confidence interval [CI]: 0.03 to 0.13, p = 0.002), elevated p‐tau181 (β = 0.19, 95% CI: 0.02 to 0.13, p = 0.002), and reduced BDNF levels (β = ‐0.47, 95% CI: –0.68 to –0.13, p = 0.013), compared to the lowest tertile.DISCUSSIONProlonged REM latency may serve as a novel marker or risk factor for AD/ADRD pathogenesis.Highlights
Rapid eye movement latency (REML) may be a potential marker for Alzheimer's disease and Alzheimer's disease and related dementias (AD/ADRD) pathogenesis.
Prolonged REML was associated with higher amyloid beta (Aβ) burden, phosphorylated tau‐181 (p‐tau181), and lower brain‐derived neurotrophic factor (BDNF) levels.
Intervention trial is needed to determine if targeting REML can modify AD/ADRD risk.
Slow‐wave sleep was not associated with AD/ADRD biomarkers.
Pharmacokinetic analysis on compatibility of Atractylodes macrocephala and Paeoniae radix herb pair ameliorates functional constipation model rats using microdialysis with ultra‐performance liquid chromatography
Authors: Wang Xiaoting , Li Xiaojun , Zhang Rui , Hong Yin , Guan Jiaqi 
Published: January 2025

AbstractBackgroundIn a previous study, we found that Atractylodes macrocephala and Paeoniae radix (AM‐PR) was useful for the alleviation of functional constipation (FC). However, the precise mechanism underlying the compatibility between AM and PR in the treatment of FC remains uncertain. This study aims to analyze the pharmacokinetic differences in the active ingredients in the blood of rat models with FC when applied individually and in combination with AM‐PR. It also seeks to compare the changes in the content of the active ingredient when applied individually and in combination with in vitro AM‐PR, further in‐depth investigation into its material foundation in terms of pharmacokinetics, as well as the composition of the substance.MethodsBlood microdialysis samples were collected using microdialysis technology. These samples from rats with FC were compared after administration of AM, PR, and AM‐PR. The concentration of the main active ingredients was determined using the Ultra Performance Liquid Chromatography‐Tunable Ultraviolet (UPLC‐TUV) method. The concentration of the main active ingredients of the decoction compatibility before and after combining AM‐PR was also determined using the UPLC‐TUV method.ResultsOur findings reveal that upon combination, the time to maximum concentration (Tmax) of isochlorogenic acid A (ICA‐A) and ataridolide II (ATR‐II) Tmax was prolonged, terminal elimination half‐life (T1/2) was reduced, and maximum plasma concentrations (Cmax) increased. The Tmax of ataridolide III (ATR‐III) remained consistent, whereas its T1/2 and Cmax were significantly reduced. Conversely, for peoniflorin (PAE), Tmax occurred sooner, T1/2 was shortened, and Cmax increased. The Tmax for albiflorin (ALB) remained consistent, whereas T1/2 and Cmax witnessed significant increases. The area under the moment curve (AUMC) (0–t) and AUMC (0–∞) of PAE, ALB, ICA‐A, ATR‐II experienced an increase after AM‐PR administration in rats, attributable to the heightened Cmax. In comparison to individual herb administration, the Tmax of ALB was advanced in combination, the Tmax of PAE remained unchanged, and the Tmax of ICA‐A and ART‐II was delayed, with an increased area under the concentration–time curve (AUC) (0–t), indicating enhanced Cmax and bioavailability. Furthermore, the dissolution rates of PAE, ICA‐A, and ATR‐II significantly improved after compatibility.ConclusionsThis study partially clarifies the rationale and compatibility of AM‐PR in treating FC and offers a new perspective on the pharmacokinetic interactions of AM‐PR in FC treatment.
Design of Fractional‐Order Sliding Mode Controller for an Unstable Three‐State Model Jacketed CSTR
Authors: Maurya Parmanand , Prasad Durga , Singh Ram Sharan 
Published: January 2025

ABSTRACTControl of a jacketed continuous stirred tank reactor (CSTR) is challenging due to nonlinear dynamics, complexity, and rapid reactor dynamics under imperfect mixing in the jacket. Current controller designs mainly focus on the two‐state model, neglecting the potential of three‐state models in scenarios with nonperfect mixing and fast reactor dynamics. This study proposes a sliding mode controller (SMC) design scheme based on the transfer function model using a newly developed jellyfish optimisation algorithm. Further, a fractional‐order sliding mode control (FO‐SMC) strategy is proposed, which integrates modifications to the SMC to mitigate chattering, enhance control robustness, and provide better disturbance rejection capability. PID and fractional‐order PID (FOPID) controllers were also designed for comparative analysis. The simulation results demonstrated that FO‐SMC outperformed other designed controllers, shown by a 37.14% reduction in settling time, 10.69% reduction in integral absolute error (IAE), and 19.06% reduction in time‐weighted absolute error (ITAE) compared to SMC and various other improved performance indicators. Parameter variation and noise analysis highlighted the ability of the controller to maintain stability and performance under dynamic conditions.
Risk Assessment of Cyclaniliprole Resistance in Peach‐Potato Aphid Myzus persicae: Laboratory Selection, Inheritance, and Cross‐Resistance Patterns
Authors: Liang Pingzhuo , Zhang Zihao , Zhen Congai , Li Dapeng , Cheng Shenhang , Li Ren , Zhang Lei 
Published: January 2025

ABSTRACTCyclaniliprole, a type of the third‐generation anthranilic diamide insecticide, was mainly used for management of various pests. Myzus persicae (Hemiptera: Aphididae), known as the peach‐potato aphid, is an economically essential pest with worldwide distribution. However, the risk assessment of cyclaniliprole in M. persicae is unclear. The cyclaniliprole risk assessment in M. persicae showed 2.56‐fold resistance to cyclaniliprole after 26 generation selection in comparison to the initial susceptible population. The cross‐resistance experiment revealed that the low cross‐resistance to imidacloprid (4.2‐fold) in the cyclaniliprole‐selected strain was observed when comparing to the susceptible population. Realized heritability (h2) of cyclaniliprole resistance was 0.0362. When mean slope = 2.217 and h2 = 0.0362, then 31–69 generations would be required for an increase of LC50s with ten times at 90%–50% selection intensity. The fecundity (the number of offspring per female) of the cyclaniliprole‐selected strain had no significant difference with the susceptible population. The mRNA expression of the target gene ryanodine receptor was significantly enhanced in the cyclaniliprole‐selected strain. The absence of fitness costs, the minimal resistance risk, and very low levels of cross‐resistance in the cyclaniliprole‐selected strain provide strong support for designing the effective management strategies against M. persicae.
Efficacy, Safety, Pharmacokinetics, and Immunogenicity of ABBV‐154 in Adults With Glucocorticoid‐Dependent Polymyalgia Rheumatica: A Phase 2, Randomized, Double‐Blind, Placebo‐Controlled Trial
Authors: Spiera Robert F. , Devauchelle‐Pensec Valerie , Owen Claire E. , Díaz‐González Federico , Takeuchi Tsutomu , Drescher Edit , Anderson Jaclyn , Arikan Dilek , D'Cunha Ronilda , Parmentier Julie , Kruzikas Denise T. , Zhao Weihan , Yang Yang , Stellpflug Karen , Buttgereit Frank 
Published: January 2025

ObjectiveAn unmet need exists for glucocorticoid‐sparing treatments for patients with polymyalgia rheumatica (PMR). The antibody‐drug conjugate ABBV‐154 comprises adalimumab conjugated to a glucocorticoid receptor modulator. We evaluated ABBV‐154 versus placebo in patients with glucocorticoid‐dependent PMR.MethodsIn this phase 2, randomized, double‐blind, placebo‐controlled, dose‐ranging study, eligible patients had confirmed PMR, glucocorticoid response and ≥2 unequivocal PMR flares while tapering glucocorticoids and still on ≥ 5 mg daily prednisone equivalent. Randomized patients received subcutaneous placebo or ABBV‐154 40, 150, or 340 mg once every other week. The primary efficacy endpoint was time to flare. The sponsor voluntarily terminated the study early.ResultsOverall, 181 patients were randomized (placebo, n = 50; ABBV‐154: 40 mg, n = 42; 150 mg, n = 45; 340 mg, n = 44) and 67.4% completed study drug at week 24 Time to flare was longer for patients receiving ABBV‐154 than those receiving placebo, with Kaplan‐Meier estimate of 24‐week flare‐free rate being lower for placebo. The hazard ratios of ABBV‐154 vs placebo (95% confidence interval) were 0.49 (0.27, 0.88), P = 0.017 for 40 mg; 0.44 [0.25, 0.79], P = 0.006 for 150 mg; 0.20 [0.09, 0.42], P < 0.001 for 340 mg. Incidences of treatment‐emergent adverse events were similar between groups, and the most common across ABBV‐154 cohorts was COVID‐19 (16.0%).ConclusionTreatment effects were observed for ABBV‐154 cohorts compared with placebo for time to flare. ABBV‐154 was generally well tolerated. Due to early study termination, results should be interpreted with caution.ClinicalTrials.gov identifier: NCT04972968
Comorbidities and Healthcare Utilization Among Young Adults With Congenital Heart Defects by Down Syndrome Status—Congenital Heart Survey to Recognize Outcomes, Needs, and wellbeinG, 2016–2019
Authors: Villamil Vanessa I. , Downing Karrie F. , Oster Matthew E. , Andrews Jennifer G. , Galindo Maureen K. , Patel Jenil , Klewer Scott E. , Nembhard Wendy N. , Farr Sherry L. 
Published: January 2025

ABSTRACTBackgroundAlmost half of individuals born with Down syndrome (DS) have congenital heart defects (CHDs). Yet, little is known about the health and healthcare needs of adults with CHDs and DS. Therefore, we examined comorbidities and healthcare utilization of this population.MethodsData were from the 2016–2019 Congenital Heart Survey to Recognize Outcomes, Needs, and well‐beinG (CH STRONG), a survey of 19–38‐year‐olds with CHDs identified through birth defects registries in Arkansas, Arizona, and Atlanta. Outcome estimates were standardized to the CH STRONG eligible population. Multivariable Poisson regression generated adjusted prevalence ratios (aPRs) for associations between DS and each outcome, adjusting for covariates, including CHD severity.ResultsAmong 1500 respondents, 9.1% had DS. Compared to those without DS, respondents with DS were more commonly male (55.5% vs. 45.0%), < 25 years old (51.8% vs. 42.7%), non‐Hispanic White (72.3% vs. 69.3%), and publicly insured (77.4% vs. 22.8%; all p < 0.05). Of adults with CHDs and DS, 5.5% had cardiac comorbidities, 19.3% had emergency room (ER) visits, 6.2% had hospital admissions, and 1.2% had cost‐related delays in care in the last year; 0.1 to 0.6 times lower than adults with CHDs without DS. Additionally, 26.7% had non‐cardiac comorbidities (aPR = 1.25 [0.92–1.72]), most commonly sleep apnea (13.7% vs. 3.2%, aPR = 3.67 [2.02–6.67]). Receipt of cardiology care in the last 2 years was similarly low (52.7% vs. 44.7%).ConclusionsAdults with CHDs and DS comprise a substantial percentage of adults with CHDs and have unique health and healthcare needs. Half of adults with CHDs and DS are not receiving recommended routine cardiac care.
Investigation of Thermal Management Capacity of Casson Electrolytes in Porous Electrodes in Lithium‐Ion Battery Applications
Authors: Manzoor Tareq , Iqbal S. , Anwer Tauseef , Manzoor Sanaullah , Mustafa Ghulam , Manzoor Habib Ullah 
Published: January 2025

ABSTRACTThe study of the Casson electrolyte in lithium‐ion batteries (LIBs) is important because of their complexities due to tougher operational conditions and other challenges during charging–discharging challenges with their improved thermal management capacity and enhanced safety. This further optimizes the thermal management avoiding chances of hot spots or thermal runaway, thereby making LIBs safer. In this investigation, convective loads for non‐Newtonian fluid as electrolyte Casson‐type boundary layer flow related to plate and flat surfaces in non‐Darcy permeable porous electrodes have been deliberated. We have employed the Optimal Homopotic Asymptotic Method technique to solve the equation of the system. The effects and influences of Casson factors, permeability, flow constraints, Prandtl values related to flow and thermal dissipation, and boundary layer profiles have been studied. From the results, it is concluded that thermal parameters and porousness have affected the system, and the upsurge in the porousness actually decreases heat transport effects and proportions. The results of this study are relevant to the development of more effective porous electrodes for achieving high performance with long cycle life. These studies help improve the utilization of mass and heat transfer properties, as affected by the non‐Newtonian behavior of the electrolyte, to help in the design of next‐generation LIBs with higher energy density along with fast charge/discharge rates.
Reusable chemical catalysts for sustainable biodiesel production: The role of metallic elements
Authors: Gholami Ali , Pourfayaz Fathollah , Rodygin Konstantin 
Published: January 2025

AbstractIn recent decades, biodiesel has emerged as a renewable and environmentally benign fuel compared with its fossil counterpart. From an industrial perspective, homogeneously‐catalyzed transesterification has been established as the principal method for biodiesel synthesis owing to the moderate reaction conditions. However, homogeneous catalysts cannot be reused, and large amounts of wastewater accompany their separation from the products, making the production process detrimental to the environment and contrary to the sustainable development objectives. This grim reality confronting green fuel can be avoided by using heterogeneous catalysts that can be recycled and reused several times. Metal elements have played a crucial role in the development of such catalysts. These species are readily available in the environment and provide solid catalysts with high activity. Due to their significant contribution to achieving a sustainable production method for biodiesel, this paper reviews the role of metallic elements in fabricating functional materials, including metal oxides, mixed metal oxides, and metal‐doped porous frameworks. The optimized reaction conditions focused on reusability were reported and analyzed for each class of catalysts. Challenges and future requirements for boosting the catalysts’ activity and reusability in the production process were also discussed. Leaching of active sites and pore blockage were the primary factors detrimental to reusability. These issues could be minimized by supported metal atoms on porous materials, providing a stronger bond of the metal sites and the support, and utilizing membrane reactors to continuously remove the products from a reaction mixture.
Image‐Based Analysis of Correlation Between Valve Stent Deformation and Valve Function in Transcatheter Aortic Valve Replacement
Authors: Jin Min , Zhou Qing , li Shuchun , Zhang Haitao , Wang Dongjin 
Published: January 2025

ABSTRACTBackground and ObjectivesCurrently, there remains a paucity of research on the deformation and valve function of transcatheter heart valves (THV) in patients with aortic regurgitation (AR) following transcatheter aortic valve replacement (TAVR). This study aimed to thoroughly explore the correlation between THV deformation and postoperative hemodynamics in these patients.MethodsIn this study, we assessed 39 AR patients treated with the J‐Valve THV system during TAVR. We utilized postoperative cardiac‐enhanced computed tomography angiography (CTA) to examine the extent of stent deformation, correlating these measurements with concurrent echocardiographic data.ResultsAmong patients with AR, the J‐Valve exhibited three distinct configurations: rectangular, trapezoidal, and inverted trapezoidal shapes. The rectangular configuration showed a trend toward a larger effective orifice area (EOA) compared to the trapezoidal and inverted trapezoidal configurations (rectangular: 2.20 ± 0.11 cm², trapezoidal: 1.88 ± 0.08 cm², inverted trapezoidal: 2.04 ± 0.08 cm²; p = 0.068). Stratified analysis of the degree of inclined commissural posts indicated that THVs with all three commissural angles < 5° exhibited the highest standard EOA (sEOA). An increase in the number and degree of inclined commissural posts correlated with a decrease in sEOA. Furthermore, a higher EOA was observed when the expansion in the mid and transition level exceeded 80%.ConclusionsDuring the TAVR procedure, ensuring sufficient expansion in the mid and transition level of the stent, maintaining the stent in a rectangular configuration, and avoiding tilting of the commissural posts contribute to achieving favorable postoperative hemodynamics.
Left Main Coronary Occlusion During TAVI Procedure: Calcium Embolization Matters
Authors: Vijayvergiya Rajesh , Kumar Basant , Bose Arghadip , Negi Sunder 
Published: January 2025

ABSTRACTAcute coronary occlusion during transcatheter aortic valve implantation (TAVI) is an unwarranted complication associated with high mortality. The current TAVI practices recommend a multidetector computed tomography (MDCT) evaluation of the aortic valve, the left ventricular outflow tract, and the aortic root to determine the conventional risk factors for coronary obstruction like low‐lying coronary ostia and narrow sinuses of Valsalva, mandating prophylactic coronary protection or native valve leaflet modification in high‐risk patients. Despite optimal anatomy, acute coronary occlusion can still occur due to multiple mechanisms, one of which is coronary embolism due to thrombus, calcium, or native aortic valve fragments. A sudden hemodynamic collapse during a TAVI procedure in the absence of apparent causes always raises the suspicion of coronary occlusion, which requires a prompt percutaneous coronary intervention (PCI) to save the patient's life. This report describes a case of acute coronary occlusion during TAVI in a seemingly low‐risk patient salvaged with an emergent left main (LM) bifurcation PCI.
Genetic analysis of forage, seed, and turf quality in tall fescue: Unraveling inheritance patterns and interrelationships
Authors: Pirnajmedin Fatemeh , Majidi Mohammad Mahdi , Safari Maryam 
Published: January 2025

AbstractTall fescue (Festuca arundinacea Schreb. syn. Lolium arundinaceum), an important cool‐season grass, has limited understanding regarding its genetic inheritance patterns and the potential for simultaneous selection across forage, seed, and turf traits. In this study, 24 half‐sib families derived from polycrosses, along with their corresponding parental genotypes, were assessed for different agro‐morphological, seed, and turf quality characteristics in the field for 2 years (2019–2020). High genotypic variation was observed for all the measured traits. Moderate narrow‐sense heritability (h2PFM) for turf quality and seed‐related traits indicated that genetic variance predominates in total phenotypic variance of these traits. Low value of h2PFM (0.25) for dry forage yield (DFY) shows the high environmental influence on the expression of this economic trait. Indirect selection to improve DFY was more effective through its components, such as crown diameter (h2PFM = 0.43) and plant height (h2PFM = 0.48), which had higher heritability and positive correlation with forage yield. However, for seed and turf quality traits, direct selection would be possible during recurrent selection programs. The simultaneous selection for both forage yield and seed yield would be possible due to the positive correlation between them. Based on the application of multivariate analysis, parental genotypes and half‐sib families with possible utility as forage and seed use or turf application were recognized, which can be used in the future breeding programs for developing synthetic varieties.