bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genome sequencing among children with medical complexity: What constitutes value from parents’ perspective?
Authors: Lee Whiwon , Luca Stephanie , Costain Gregory , Snell Meaghan , Marano Maria , Curtis Meredith , Dunsmore Kourtney , Veenma Danielle , Walker Susan , Cohn Ronald D. , Marshall Christian R. , Cohen Eyal , Meyn M. Stephen , Orkin Julia , Hayeems Robin Z. 
Published: October 2021

AbstractGenome sequencing (GS) has demonstrated high diagnostic yield in pediatric patients with complex, clinically heterogeneous presentations. Emerging evidence shows generally favorable experiences for patients and families receiving GS. As a result, implementation of GS in pediatrics is gaining momentum. To inform implementation, we conducted a qualitative study to explore the personal utility of GS for parents of children with medical complexity (CMC). GS was performed at an academic tertiary‐care center for CMC for whom a genetic etiology was suspected. Following the return of GS results, semi‐structured interviews were conducted with 14 parents about their child's diagnostic journey. Of the children whose parents were interviewed, six children received a diagnosis, two received a possible diagnosis, and six did not receive a diagnosis. A predominantly deductive thematic analysis approach to the interview data was used by applying Kohler's personal utility framework to understand affective, cognitive, behavioral and social impacts of GS. Both the diagnosed and undiagnosed groups experienced enhanced emotion‐focused coping (affective). The diagnosed group experienced favorable utility related to knowledge of condition (cognitive) and communication with relatives (behavioral). A domain beyond Kohler's framework related to the presence or absence of GS impact on medical management was also described by parents. The deployment of GS late in the diagnostic odyssey and the limited knowledge available for the rare genetic disorders diagnosed in this cohort appeared to diminish the perceived utility of GS. As GS capabilities continue to evolve at a rapid pace and become available earlier in the diagnostic journey, it is important to consider the impact and timing of testing on parents of CMC.
Significance of maintenance therapy after HDT/ASCT in symptomatic multiple myeloma: A multicenter retrospective analysis in Kansai Myeloma Forum
Authors: Nakaya Aya , Shibayama Hirohiko , Nakatani Eiji , Shimura Yuji , Kosugi Satoru , Tanaka Hirokazu , Fuchida Shin‐Ichi , Kanda Junya , Uoshima Nobuhiko , Kaneko Hitomi , Imada Kazunori , Ohta Kensuke , Ito Tomoki , Yagi Hideo , Yoshihara Satoshi , Hino Masayuki , Shimazaki Chihiro , Takaori‐Kondo Akifumi , Kuroda Junya , Matsumura Itaru , Kanakura Yuzuru , Nomura Shosaku 
Published: October 2021

AbstractA total of 129 symptomatic patients with multiple myeloma (MM) who underwent high‐dose chemotherapy with autologous stem cell transplantation (HDT/ASCT) were analyzed. The 4‐year overall survival (OS) of patients with maintenance (n = 82) was 80%, whereas that of patients without maintenance (n = 47) was 72% (p = 0.426). The 4‐year progression‐free survival (PFS) of patients with maintenance was 38%, whereas that of patients without maintenance was 27% (p = 0.088). Multivariate analysis revealed that an International Staging System score ≥2 was associated with worse PFS (hazard ratio 1.62, p = 0.043). Among the 129 patients, two were excluded owing to early relapse, 50 patients achieved complete response (CR), and 77 patients failed to achieve CR. Patients who achieved CR showed better 4‐year PFS than those who failed to achieve CR (41% vs. 30%, p = 0.027); however, 4‐year OS was not different (76% vs. 82%, p = 0.971). In patients who achieved CR, 4‐year OS with/without maintenance was 74%/81% (p = 0.357), 4‐year PFS with/without maintenance was 42%/40% (p = 0.954). In patients who failed to achieve CR, the 4‐year OS with/without maintenance was 97%/91% (p = 0.107), and 4‐year PFS with/without maintenance was 36%/16% (p < 0.001). In patients who failed to achieve CR, maintenance significantly improved the PFS. Maintenance after HDT/ASCT can prolong PFS in patients who fail to achieve CR in real‐world settings.
Diagnosing the “master mechanism of the universe” in interwar and war‐era America
Authors: Murray Heather 
Published: October 2021

AbstractDrawing on personal testimonials and questions addressed to psychiatric hospital officials, this article explores how patients and their loved ones engaged with the idea of diagnosis in interwar and war‐era America. I argue that diagnosis had synergies with intellectual sensibilities of American modernity, among them an enthusiasm for science and newness, a modernist sense of time that could be both forward‐ and backward‐looking, and a knowable, interpreted self. While self‐understanding and the creation of life narratives were more often considered the bailiwick of psychoanalysis in this period, understanding subjectivity and self‐interpretation were not solely expressed in its conceptual vocabulary. Patient and family dialogs with diagnosis and psychiatric authorities allow for an illumination of the interaction between domestic intuitions, common sense, and folk wisdom, on the one hand, and institutional taxonomy, categorization, and scientific terminology on the other, or more broadly, between dispositions that are ostensibly antimodern and more modern ideas. I suggest that the protean and wide‐ranging intellectual origins of the discipline of psychiatry, along with the inherent ambiguity of psychiatric diagnosis during the early 20th century, allowed patients to participate in their own medicalization in the most capacious way possible: by combining biology with diagnostic narrative capacities, as well as broader perceptions of morality and character. In the concluding reflection, I speculate about why it is that late 20th‐century American critics and activists have tended to view diagnosis and medicalization as coercive and threatening, in contrast to earlier 20th‐century patients and their intimate observers.
Microenergy acoustic pulses promotes muscle regeneration through in situ activation of muscle stem cells
Authors: Zhang He , Kim Hubert T. , Feeley Brian T. , Lin Guiting , Lue Tom F. , Liu Mengyao , Banie Lia , Liu Xuhui 
Published: October 2021

AbstractMicroenergy acoustic pulses (MAP) is a modified low‐intensity extracorporeal shock wave therapy that currently used for treating musculoskeletal disorders. However, its function on muscle regeneration after ischemia‐reperfusion injury (IRI) remains unknown. This study aimed to explore the effect of MAP on muscle injury after IRI and its underlying mechanisms. Ten‐week‐old C57BL/6J mice underwent unilateral hindlimb IRI followed with or without MAP treatment. Wet weight of tibialis anterior muscles at both injury and contralateral sides were measured followed with histology analysis at 3 weeks after IRI. In in vitro study, the myoblasts, endothelial cells and fibro‐adipogenic progenitors (FAP) were treated with MAP. Cell proliferation and differentiation were assessed, and related gene expressions were measured by real‐time PCR. Our results showed that MAP significantly increased the muscle weight and centrally nucleated regenerating muscle fiber size along with a trend in activating satellite cells. In vitro data indicated that MAP promoted myoblast proliferation and differentiation and endothelial cells migration. MAP also induced FAP brown/beige adipogenesis, a promyogenic phenotype of FAPs. Our findings demonstrate the beneficial function of MAP in promoting muscle regeneration after IR injury by inducing muscle stem cells proliferation and differentiation.
Investigation of Rheological and Wettability Behavior of Hex‐BN Nanofluids
Authors: Thapliyal Prashant , Kumar Ajay , Thakre Gananath D. 
Published: October 2021

AbstractConservation of energy has become a need of the hour, as a substantial amount of energy is wasted in maintaining machines. The rheological and wettability behavior of lubricants plays an instrumental role in enhancing machine life. Nano additives have shown encouraging results in this regard, though there are so many challenges that need to be addressed. The flow behavior of lubricants largely depends on the rheological and wetting behavior of lubricants. The rheological properties include shear stress, shear rate, viscosity, and viscoelastic behavior of oils. Similarly, the wettability properties include the contact angle of the oils. Both of these properties influence the tribological performance in the end. In the present study, the rheological and wettability behavior of hexagonal boron nitride (Hex‐BN) nanofluids is presented. The study has been carried out on two commercially available blended synthetic engine oils of the same grades. The oils are blended with 0.1% and 0.2% weight by weight of well‐dispersed Hex‐BN nanoparticles. The study reveals that tested Hex‐BN nanofluids behaved as non‐Newtonian lubricants with shear thinning behavior at all tested temperatures and exhibited viscoelastic behavior at lower shear rates. On blending oils with 0.2% Hex‐BN, contact angle has shown increment across the board for all surfaces. It indicates that Hex‐BN binds better with the lubricants’ molecules, hence increasing the force of cohesion. Furthermore, it is a sign of better dispersion of Hex‐BN nanoparticles in the given lubricants.
Structural and Surface Morphological Study of rGO/Polystyrene Composites
Authors: Srivastava Nisha , Jain Ankur , Sharma K. B. , Tripathi Balram 
Published: October 2021

AbstractrGO/Polystyrene composites are prepared via sonication and casting method. In sonication, a mixture of reduced graphene oxide (rGO) and polystyrene (PS) is mixed together for composite fabrication. The sonication is used to enhance the dispersion of rGO within PS matrix. The XRD spectra show structure of the fabricated composite, Raman spectra confirms orientation of rGO in composites, and SEM results indicate surface morphology of the composites. It has been observed that composites fabricated show a better morphology and dispersion with enhanced stability for hybrid systems like electrodes, batteries, and thermal interface materials.
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study
Authors: Yu Yue , Shuai Ruixue , Liang Lili , Qiu Wenjuan , Shen Linghua , Wu Shengnan , Wei Haiyan , Chen Yongxing , Yang Chiju , Xu Peng , Chen Xigui , Zou Hui , Feng Jizhen , Niu Tingting , Hu Haili , Ye Jun , Zhang Huiwen , Lu Deyun , Gong Zhuwen , Zhan Xia , Ji Wenjun , Gu Xuefan , Han Lianshu 
Published: October 2021

AbstractBackgroundTo summarize the relationship between different MMUT gene mutations and the response to vitamin B12 in MMA.MethodsThis was a retrospective study of patients diagnosed with mut‐type MMA. All patients with mut‐type MMA were tested for responsiveness to vitamin B12.ResultsThere were 81, 27, and 158 patients in the completely responsive, partially responsive, and nonresponsive groups, respectively, and the proportions of symptom occurrence were 30/81 (37.0%), 21/27 (77.8%), and 131/158 (82.9%), respectively (p < .001). The median levels of posttreatment propionyl carnitine (C3), C3/acetyl carnitine (C2) ratio in the blood, and methylmalonic acid in the urine were all lower than pretreatment, and the median level of C3/C2 ratio in the completely responsive group was within the normal range. In 266 patients, 144 different mutations in the MMUT gene were identified. Patients with the mutations of c.1663G>A, c.2080C>T, c.1880A>G, c.1208G>A, etc. were completely responsive and with the mutations of c.1741C>T, c.1630_1631GG>TA, c.599T>C, etc. were partially responsive. The proportions of healthy/developmental delay outcomes in the three groups were 63.0%/23.5%, 33.3%/40.7%, and 13.3%/60.1%, respectively (p < .001).ConclusionDifferent mutations in the MMUT gene are associated with the effect of vitamin B12 treatment.
Haematococcus Pluvialis Extends Yeast Lifespan and Improves Slc25a46 Gene Knockout‐Associated Mice Phenotypic Defects
Authors: Wang Min , Xu Piao , Liao Linfeng , Gao Li , Amakye William Kwame , Zhang Ying , Yao Maojin , Ren Jiaoyan 
Published: October 2021

ScopeAging has become one of major concern worldwide. It is therefore of great significance in finding food resources as therapeutic candidates for aging‐related functional decline improvement and prevention. This study aimed to define the potency of Haematococcus pluvialis (H. pluvialis) as an anti‐aging food resource.Methods and ResultsYeast is used to explore the anti‐aging effects of H. pluvialis. The result showed that H. pluvialis extract could effectively extend yeast chronological lifespan (CLS) by reducing intracellular reactive oxygen species (ROS) levels, promoting mitochondrial membrane potential (MMP) levels and accumulating storage carbohydrate (glycogen). Subsequently, Slc25a46 knockout (Slc25a46‐/‐) mice with mitochondrial dysfunction are fed with 100 mg kg−1 H. pluvialis extracts for 10 days. The in vivo data demonstrated that H. pluvialis extract could effectively improve the phenotypic deficits, including underweight, muscle weakness, redox imbalance, and mitochondrial respiratory chain dysfunction, etc., in Slc25a46‐/‐ mice.ConclusionsThis work highlights that the mitochondria may be a potential therapeutic target for combating aging, and demonstrated that H. pluvialis, as a dietary supplement, may potentially be an effective preventive substance that may contribute to the promotion of healthy aging.
Are isoforms of capacitating Na+K+‐ATPase localized to sperm head rafts?
Authors: Sajeevadathan Mrudhula , Pettitt Murray J. , Buhr Mary M. 
Published: October 2021

AbstractCapacitation begins in the sperm head plasma membrane (HPM). Membrane rafts could house signaling molecules, but although these specialized microdomains have been microscopically visualized in sperm heads, rafts have been isolated for study only from homogenized whole sperm or tails, never purified HPM. Sodium/potassium ATPase (Na+K+‐ATPase) is a membrane‐bound signaling protein that induces capacitation in bull sperm in response to the steroid hormone ouabain, and its subunit isoforms α1, α3, β1, β2, and β3 are known in HPM. This study hypothesized that rafts exist in the HPM of bull sperm, with Na+K+‐ATPase subunit isoforms preferentially localized there. Western immunoblotting (WB) of HPM from fresh, uncapacitated bull sperm (n = 7 ejaculates), and detergent‐resistant membranes isolated by density gradient centrifugation from this HPM, contained the raft‐marker protein Flotillin‐1; the non‐raft fraction did not. HPM, raft, and non‐raft contained all known Na+K+‐ATPase isoforms including, for the first time, the previously unknown α2 isoform. Quantification (ImageQuant Software) found α3 and β1 were relatively dominant isoforms in the HPM raft. WB profiles of raft isoforms differed significantly from HPM and non‐raft profiles, with unique banding patterns and amounts, hinting that the capacitation signaling in the now‐identified HPM rafts may depend on unique sequences within the isoform structure.
Optimization of spectrally selective 180° radiofrequency pulse timings in J‐difference editing (MEGA) of lactate
Authors: Ganji Sandeep K. , An Zhongxu , Tiwari Vivek , Chang Yongmin , Patel Toral R. , Maher Elizabeth A. , Choi Changho 
Published: October 2021

PurposeJ‐Difference editing (MEGA) provides an effective spectroscopic means of selectively measuring low‐concentration metabolites having weakly coupled spins. The fractional inphase and antiphase coherences are determined by the radiofrequency (RF) pulses and inter‐RF pulse intervals of the sequence. We examined the timings of the spectrally selective editing 180° pulses (E180) in MEGA‐PRESS to maximize the edited signal amplitude in lactate at 3T.MethodsThe time evolution of the lactate spin coherences was analytically and numerically calculated for non‐volume localized and single‐voxel localized MEGA sequences. Single‐voxel localized MEGA‐PRESS simulations and phantom experiments were conducted for echo time (TE) 60–160 ms and for all possible integer‐millisecond timings of the E180 pulses. Optimized E180 timings of 144, 103, and 109 ms TEs, tailored with simulation and phantom data, were tested in brain tumor patients in vivo. Lactate signals, broadened to singlet linewidths (~6 Hz), were compared between simulation, phantom, and in vivo data.ResultsTheoretical and experimental data indicated consistently that the MEGA‐edited signal amplitude and width are sensitive to the E180 timings. In volume‐localized MEGA, the lactate peak amplitudes in E180‐on and difference spectra were maximized at specific E180 timings for individual TEs, largely due to the chemical‐shift displacement effects. The E180 timings for maximum lactate peak amplitude were different from those of maximum inphase coherence in in vivo linewidth situations.ConclusionIn in vivo MEGA editing, the E180 pulse timings can be effectively used for manipulating the inphase and antiphase coherences and increasing the edited signal amplitude, following TE optimization.
Residual quadrupolar couplings observed in 7 Tesla deuterium MR spectra of skeletal muscle
Authors: Gursan Ayhan , Froeling Martijn , Hendriks Arjan D. , Welting Dimitri , Kentgens Arno P. M. , Klomp Dennis W. J. , Prompers Jeanine J. 
Published: October 2021

PurposeDeuterium metabolic imaging could potentially be used to investigate metabolism in skeletal muscle noninvasively. However, skeletal muscle is a tissue with a high degree of spatial organization. In this study, we investigated the effect of incomplete motional averaging on the naturally abundant deuterated water signal in 7 Tesla deuterium spectra of the lower leg muscles and the dependence on the angle between the muscle fibers and the main magnetic field B0, as determined by DTI.MethodsNatural abundance deuterium MRSI measurements of the right lower leg muscles were performed at 7 Tesla. Three subjects were scanned in a supine position, with the right leg parallel with the B0 field. One subject was scanned twice; during the second scan, the subject was laying on his right side and the right knee was bent such that the angle between the right lower leg and B0 was approximately 45°. DTI was performed in the same subjects in the same positions at 3 Tesla to determine muscle fiber angles.ResultsWe observed splittings in the natural abundance deuterated water signal. The size of the splittings varied between different muscles in the lower leg but were mostly similar among subjects for each muscle. The splittings depended on the orientation of the muscle fibers with respect to the main magnetic field B0.ConclusionPartial molecular alignment in skeletal muscle leads to residual deuteron quadrupolar couplings in deuterated water, the size of which depends on the angle between the muscle fibers and B0.
Association of risk of malnutrition with adverse outcomes and early support on discharge in acute stroke patients without prestroke disability: A multicenter, registry‐based cohort study
Authors: Fluck David , Fry Christopher H. , Gulli Giosue , Affley Brendan , Robin Jonathan , Kakar Puneet , Sharma Pankaj , Han Thang S. 
Published: October 2021

AbstractBackgroundMalnutrition in hospitals remains highly prevalent. As part of quality improvement initiatives, the Royal College of Physicians recommends nutrition screening for all patients admitted with acute stroke. We aimed to examine the associations of patients at risk of malnutrition with poststroke outcomes.MethodsWe analyzed prospectively collected data from four hyperacute stroke units (HASUs) (2014–2016). Nutrition status was screened in 2962 acute stroke patients without prestroke disability (1515 men, [mean ± SD] 73.5 years ± 13.1; 1447 women, 79.2 ± 13.0 years). The risk of malnutrition was tested against stroke outcomes and adjusted for age, sex, and comorbidities.ResultsRisk of malnutrition was identified in 25.8% of patients). Compared with well‐nourished patients, those at risk of malnutrition had, within 7 days of admission, increased risk of stay on the HASU of >14 days (odds ratio [OR]: 9.9 [7.3–11.5]), disability on discharge (OR: 8.1 [6.6–10.0]), worst level of consciousness in the first 7 days (score ≥ 1) (OR: 7.5 [6.1–9.3]), mortality (OR: 5.2 [4.0–6.6], pneumonia (OR: 5.1 [3.9–6.7]), and urinary tract infection (OR: 1.5 [1.1–2.0]). They also required palliative care (OR: 12.3 [8.5–17.8]), discharge to new care home (OR: 3.07 [2.18–4.3]), activities of daily living support (OR: 1.8 [1.5–2.3]), planned joint care (OR: 1.5 [1.2–1.8]), and weekly visits (OR: 1.4 [1.1–1.8]).ConclusionPatients at risk of malnutrition more commonly have multiple adverse outcomes after acute stroke and greater need for early support on discharge.
Status and factors related to post‐traumatic growth in continuous ambulatory peritoneal dialysis: A multi‐centre study
Authors: Li Xing , Zhou Xueli , Ma Dengyan , Salerno Stephen , Qi Min , Diao Yongshu , Chen Chongcheng , Zhong Hui , Xiao Shuxin , Wang Yan , Zhang Jiaju , Luo Hongyan , Huang Lijun , Ou Santao , Li Yuanmei , Cheng Xiaoyun , Xu Huihui , Ma Yan , Li Yi , Wei Jianing 
Published: October 2021

AbstractAimTo investigate the extent of post‐traumatic growth, and the correlation between post‐traumatic growth and self‐perceived stress, post‐traumatic growth and self‐perceived burden among CAPD patients.DesignA cross‐sectional study.MethodsThis was a multi‐centre study including 752 patients from 44 hospitals. Self‐perceived stress, self‐perceived burden and post‐traumatic growth were measured using the post‐traumatic growth inventory (PTGI), the Chinese version of the perceived stress questionnaire (CPSQ) and the self‐perceived burden scale (SPBS). A multiple stepwise regression analysis was fit with the total PTGI score as the outcome of interest.ResultsPatients concurrently experienced post‐traumatic growth and stress following peritoneal dialysis. The initiation of patients’ education level, employment status and self‐perceived stress were all found to relate to growth among Chinese CAPD patients. There was not sufficient evidence to suggest that self‐perceived burden was related to experiencing growth.
Guanidinopropyl end‐modified poly(ethylene glycol) to form highly compact plasmid DNA mono‐ion complexes by thermal treatment
Authors: Qiao Haibo , Asayama Shoichiro 
Published: October 2021

AbstractAs a monocationic poly(ethylene glycol) (PEG), a guanidinopropyl end‐modified PEG (Gu‐PEG) is used to form the mono‐ion complexes (MICs) with pDNA by thermal treatment to anneal double helix structure for improvement of the MIC formation. After thermal treatment, the Gu‐PEG/pDNA MICs formed the highly compact spherical structure with diameter of ~20 nm, which was considered to be the smallest level in the field of pDNA delivery system. The resulting heated MICs, that is, hMICs, were more stable than nonheated MICs in the presence of serum proteins. Consequently, the thermal treatment of MICs is expected to be the useful method to form highly compact MICs stabilized under physiological conditions for pDNA delivery systems in vivo.