bluuebunny/crossref_metadata_2025_split huggingface dataset:
PDSS1 mutations-associated steroid-resistant nephrotic syndrome: case report and review of literature
Authors: Habib Clair , Tal Galit , Weiss Karin , Magen Daniella , Pollack Shirley 
Published: December 2024

AbstractPDSS1 mutations hamper Coenzyme Q10 biosynthesis and cause a rare multisystem mitochondrial disease characterized by diverse clinical features and limited treatment options. To date, renal involvement has been reported in only one patient. We report a new female patient with compound heterozygous PDSS1 mutations and the clinical outcome following a trial of Coenzyme Q10 therapy. Our patient presented with developmental delay and regression at age three, which progressed to steroid-resistant nephrotic syndrome at age six, leading to stage 5 chronic kidney disease. Whole exome sequencing identified two pathogenic variants in the PDSS1 gene. High doses of Coenzyme Q10 therapy had no effect at this advanced stage of disease. Coenzyme Q10 treatment did not appear to improve the clinical outcome in this patient. Further data is needed to better understand the phenotypic spectrum of PDSS1-associated disruption, and the potential benefit of early Coenzyme Q10 therapy.
Probabilistic load flow analysis for evaluation of photovoltaic grid connection applications
Authors: Wohlfart Peter , Renner Herwig 
Published: December 2024

AbstractUncertainty in power system analysis is increasing, mainly due to decentralized generation and the related spatial distribution of power plants, as well as the inherent volatility of renewable energy sources. In Austria, this development is reflected in a high number of photovoltaic grid connection applications in recent years. On the consumption side, there are changes in grid loads due to the increasing electrification of society, which is reflected, for example, in a rising number of electric vehicles. These aspects of uncertainty in generation and consumption must be considered in the planning process of distribution grids. A proper way to include uncertainty in the hosting capacity analysis of power grids are probabilistic load flow calculation methods. This paper provides an introductory overview of probabilistic load flow analysis, available calculation methods, required input parameters and the interpretation of results. This paper focuses on photovoltaics, so a correlation analysis of historical power generation measurements of spatially distributed photovoltaic power plants in Austria is presented. Furthermore, an insight into the development of Austrian photovoltaic grid connection applications from recent years is given.
Adequate bowel preparation of patients undergoing screening colonoscopy
Authors: Hinterberger Anna K. , Mayer Susanne , Jiricka Lena , Waldmann Elisabeth A. , Zessner-Spitzenberg Jasmin , Majcher Barbara , Rockenbauer Lisa M. , Trauner Michael H. , Ferlitsch Monika 
Published: December 2024

Summary
Background
In order to achieve a high-quality screening colonoscopy, a high-quality bowel preparation is essential. To perform an adequate bowel cleansing patients need to understand and act on medical information, also known as health literacy. This study aimed to analyze the relationship between the patients’ educational status as a proxy for health literacy and adequate bowel preparation.

Methods
A retrospective analysis of data collected within the Austrian national colorectal cancer screening program from 2012 to 2022 was conducted. The database contains information on the quality of bowel preparation as well as the academic degree of the patients. Variables were used to perform a logistic regression analysis, with bowel preparation quality (based on the Aronchick scale) as the dependent variable and completed tertiary education as independent variable, and sex and age as control variables.

Results
A total of 329,778 patients aged 30–99 years were included in the analysis. Within the group of academics, 88.46% (n = 21,883) were adequately prepared whereas in the group of non-academics, 84.79% (n = 258,641) were found to have a high bowel preparation quality. The odds ratio (OR) for academics to have an adequate bowel preparation quality was 1.37 (95% confidence interval, CI 1.32–1.43; p < 0.001).

Conclusion
Patients with a tertiary education showed better bowel preparation quality than non-academics in Austria. Therefore, it is important to improve strategies on how to inform also less educated persons to facilitate a better screening colonoscopy quality and to optimize the use of resources from a clinical as well as a public health perspective.
Variability in resistance training trajectories of breast cancer patients undergoing therapy
Authors: Koeppel Maximilian , Steindorf Karen , Schmidt Martina E. , Rosenberger Friederike , Wiskemann Joachim 
Published: December 2024

Abstract

Purpose
In resistance training (RT), the change in volume-load from training sessions (TS) to TS is an indicator of training progress. Resulting growth trajectories are likely to differ between individuals. Understanding this variation is important for exercise planning in general, but even more for clinical populations. We investigated this variation in breast cancer patients undergoing treatment.

Methods
Data of 69 patients from two randomized controlled trails were investigated. They conducted a 12-week RT program. We fitted a quadratic Bayesian regression model to the baseline standardized volume-load over the course of the intervention. We allowed all parameters to vary both between exercises and between individuals.

Results
We observed a positive linear component of 0.093 (95% uncertainty interval (UI) 0.058 to 0.120) and a negative quadratic component of − 0.002 (95% UI -0.008 to 0.001) for the mean trajectory of the change in volume-load. For the different exercises, we observed a dispersion for both the linear (0.043, 95% UI 0.018 to 0.082) and the quadratic component (0.002, 95% UI < 0.001 to 0.004). Variation between individual appears to be approximately four times larger. We also observed between-exercise variation within individuals. Extrapolation of the regression model indicates training progression stagnates after 20.6 TS (95% UI 14.8 to 44.4).

Conclusion
There is substantial variation in RT response between breast cancer patients undergoing tumor therapy and in-between exercises. The non-linear trajectory indicates that training progression will eventually plateau, demanding periodization and timely modification.

Trial registration
BEATE Study: NCT01106820, Date: April 20, 2010; BEST Study: NCT01468766, Date: November 9, 2011.
Nationwide survey on HER2 and PD-L1 testing practices in gastric cancer across Japan
Authors: Abe Hiroyuki , Kuwata Takeshi , Kushima Ryoji , Ushiku Tetsuo 
Published: December 2024

Abstract

Background
Since HER2 and PD-L1 testing are key to selecting drugs for first-line treatments in advanced gastric cancer, evaluating differences in these tests among institutions is necessary to standardize treatment.

Methods
A questionnaire survey was conducted targeting institutions certified by the Japanese Gastric Cancer Association.

Results
Responses were obtained from 155 institutions. Most institutions performed HER2 testing in-house, while PD-L1 tests were largely outsourced. HER2 scores and PD-L1 CPS rates showed greater variability across institutions than anticipated. In the pre-analytic phase, 10% neutral buffered formalin was commonly used, with fixation practices generally following guidelines. Overall, the impact of fixation-related factors was limited, but in surgical specimens, longer fixation was associated with a higher proportion of score 0/1+ and a lower proportion of score 3+. When examining HER2 scores by institution, if a particular score had a high (or low) frequency in biopsy, the same trend was also seen in surgical specimens.

Conclusions
These findings suggest that not only factors related to specimen preparation, but also biases in evaluation criteria among pathologists may contribute to the significant variability among institutions. Standardization of pre- and post-analytic phases, coupled with appropriate training, is essential to achieve consistent gastric cancer therapy.
Surgical outcome after autologous bone chips replacement in depressed skull fractures: a single center experience
Authors: Elnoamany Hossam , Mansour Ahmed , Agour Mazen Lotfy , Dorrah Mohammed , Elnoamany Nour , Hourieh Anwar , Elkholy Hany 
Published: December 2024

Abstract
Background
Surgery for depressed skull fractures (DSFs) is always faced by multiple challenges including ideal timing, defect reconstruction and complications. Few data are available regarding the aesthetic results and patients’ satisfaction following DSFs management.

Methods
A prospective non-randomized study included 59 traumatic brain injury (TBI) patients surgically treated for DSFs. Depressed bone fragments were elevated and washed with diluted hydrogen peroxide for 15 min then replaced within a net made of vicryl 0 through edges of the galea. Our objective was to evaluate outcome and patients’ satisfaction of using autologous bone fragments for skull defect reconstruction.

Results
The mean Glasgow Coma Scale (GCS) score on admission was 14.51 ± 1.237. The mean age was 16.505 ± 12.426 years. DSFs were of compound type in 81.4% with predominance towards the parietal region 54.2%. Associated intracranial pathologies were found in 39.0% of cases. Mean time to surgery was 5.79 ± 9.982 h. Dura was found torn in 19 cases (32.2%). Postoperative complications were encountered in 5 cases (8.5%). The mean hospital stay was 3.61 ± 3.157 days. 96.6% of cases had good discharge outcome. Factors with significant impact on outcome included; admission GCS score (P < 0.001), type of associated pathology (P = 0.006), and venous sinus involvement (P = 0.003). At the end of follow up, 46 patients (82.5%) were satisfied about the aesthetic results, while 10 patients (17.5%) were not satisfied and 9 of them underwent re-surgery for late cranioplasty.

Conclusions
Using autologous depressed bone chips for skull defect reconstruction can be a safe and feasible surgical technique for TBI patients suffering DSFs with good aesthetic results, high patient satisfaction, decreased need for later cranioplasty and consequently low overall management cost.
Characterization of PSA dynamics and oncological outcomes in patients with metastatic hormone-sensitive prostate cancer treated with androgen receptor signaling inhibitors
Authors: Yamada Yasutaka , Sato Kodai , Sakamoto Shinichi , Tsujino Takuya , Saito Sinpei , Nishimura Kazuki , Fukushima Tatsuo , Nakamura Ko , Yoshikawa Yuki , Matsunaga Tomohisa , Maenosono Ryoichi , Kanesaka Manato , Arai Takayuki , Sazuka Tomokazu , Imamura Yusuke , Komura Kazumasa , Mikami Kazuo , Nakamura Kazuyoshi , Fukasawa Satoshi , Chiba Kazuto , Naya Yukio , Nagata Maki , Komaru Atsushi , Nakatsu Hiroomi , Azuma Haruhito , Ichikawa Tomohiko 
Published: December 2024

Abstract

Background
This study investigated the characteristics of prostate-specific antigen (PSA) dynamics when androgen receptor signaling inhibitor (ARSI), or vintage agent (bicalutamide) was used for patients with metastatic hormone-sensitive prostate cancer (mHSPC).

Patients and methods
A total of 213 mHSPC patients from each of the ARSI and bicalutamide groups treated between 2015 and 2022 were selected from multiple institutions using propensity score-matched analysis to align backgrounds. PSA progression-free survival (PFS) and overall survival (OS) were assessed. PSA level at 3 months, PSA nadir level, and time to PSA nadir were examined to analyze of PSA kinetics.

Results
ARSI treatment significantly improved PSA PFS compared to bicalutamide (P = 0.0063), although no significant difference in OS was seen (P = 0.3134). No significant differences were observed between treatment groups in median PSA levels at 3 months (1.47 vs 0.52 ng/ml, P = 0.3042) or PSA nadir levels (0.263 vs 0.1345 ng/ml, P = 0.1228). Bicalutamide treatment demonstrated longer time to nadir than ARSI in progression-free cases (median: 243 vs 213.5 days, P = 0.0003). Survival tree analysis found that PSA nadir ≤ 1.5 ng/ml and time to nadir ≥ 145 days were the optimal cut-offs for best stratifying OS with bicalutamide, while PSA nadir ≤ 0.45 ng/ml and time to nadir ≥ 70 days were optimal with ARSI.

Conclusion
No significant differences in PSA response was seen between groups; however, distinct optimal cut-offs were demonstrated for PSA nadir and time to nadir. The present findings will be useful for optimal PSA monitoring for mHSPC patients and for early identification of poor-prognosis populations.
Comparative analysis of life cycle inventory of cement and ready-mix concrete production in Indonesia
Authors: Agustiningtyas Rudi Setiadji , Takaguchi Hiroto , Kubota Tetsu , Alfata Muhammad Nur Fajri , Surahman Usep 
Published: December 2024

AbstractThe development of civil infrastructure in 2016–2021 increased cement and concrete consumption across Indonesia. The reduction of global warming effects can be expedited by providing environmentally friendly cement and concrete alternatives complemented with embodied energy and carbon assessment references. In this study, we investigated the local embodied energy and carbon emission with a boundary of cradle-to-gate for cements and that of cradle-to-site for ready-mix concretes in Indonesia. The production process data were collected from cement manufacturers and ready-mix concrete companies. The analysis starts with the ordinary Portland cement (OPC) and non-OPC cement, and continues to the lightweight OPC concrete and the normal-weight blended concrete. The embodied energy and carbon were quantified. The results showed that those of OPC were the highest, followed by the non-OPC cement of Portland pozzolan cement (PPC), the Portland cement composite (PCC), and the masonry cement. The available low-energy and carbon concrete mixes were found to be a combination of a high-range water reducer admixture, a supplementary cementitious material (SCM), and cement. The lightweight OPC concrete had similar embodied energy with the reference OPC concrete, but its embodied carbon was up to 11.1% lower than the reference OPC. The normal-weight blended PCC concrete with optimum SCM levels reduced embodied energy and carbon by 53.8% and 58.2%, respectively, compared to the reference OPC concrete. The reference PPC concrete is considered an alternative for assessing the embodied energy and carbon of blended concrete in the building design stage.
Decreased urinary excretion of norepinephrine and dopamine in autonomic synucleinopathies
Authors: Goldstein David S. , Sullivan Patti , Holmes Courtney 
Published: December 2024

Abstract
Background
Autonomic synucleinopathies feature autonomic failure and intracellular deposition of the protein alpha-synuclein. Three such conditions are the Lewy body diseases (LBDs) Parkinson’s disease (PD) and pure autonomic failure (PAF) and the non-LBD synucleinopathy multiple system atrophy (MSA). These diseases all entail catecholaminergic abnormalities in the brain, sympathetically innervated organs, or both; however, little is known about renal catecholaminergic functions in autonomic synucleinopathies. We measured urinary excretion rates of the sympathetic neurotransmitter norepinephrine, the hormone epinephrine, the autocrine-paracrine substance dopamine, the catecholamine precursor 3,4-dihydroxyphenylalanine (DOPA), 3,4-dihydroxyphenylglycol (DHPG, the main neuronal metabolite of norepinephrine), and 3,4-dihydroxyphenylacetic acid (DOPAC, a major dopamine metabolite), in PD, PAF, and MSA groups and controls.

Methods
Data were reviewed from all research participants who had urine collections (usually 3.5 h) at the National Institutes of Health (NIH) Clinical Center from 1995 to 2024. The control cohort had neither autonomic failure nor a movement disorder.

Results
Norepinephrine excretion rates were decreased compared with controls in PD (p = 0.0001), PAF (p < 0.0001), and MSA (p < 0.0001). Dopamine excretion was also decreased in the three groups (PD: p = 0.0136, PAF: p = 0.0027, MSA: p = 0.0344). DHPG excretion was decreased in PD (p = 0.0004) and PAF (p = 0.0004) but not in MSA. DOPA and epinephrine excretion did not differ among the study groups.

Conclusions
Autonomic synucleinopathies involve decreased urinary excretion rates of norepinephrine and dopamine. Since virtually all of urinary dopamine in humans is derived from circulating DOPA, the low rates of urinary norepinephrine and dopamine excretion may reflect dysfunctions in the renal sympathetic noradrenergic system, the DOPA-dopamine autocrine-paracrine system, or both systems.
Vascularized lymph node transfer (VLNT) versus lymphaticovenous anastomosis (LVA) for chronic breast cancer-related lymphedema (BCRL): a retrospective cohort study of effectiveness over time
Authors: Kappos Elisabeth A. , Fabi Adriano , Halbeisen Florian S. , Abu-Ghazaleh Alina , Stoffel Julia , Aufmesser-Freyhardt Birgit , Bukowiecki Julia , Handschin Tristan M. , Andree Christoph , Haug Martin D. , Schaefer Dirk J. , Fertsch Sonia , Seidenstücker Katrin 
Published: December 2024

Abstract
Purpose
Microsurgical reconstruction, including vascularized lymph node transfer (VLNT) and lymphaticovenous anastomosis (LVA), have emerged as promising treatment options for chronic breast cancer-related lymphedema (BCRL). Despite their clinical relevance, the precise timelines for patient improvement following these interventions remain rather unexplored. Therefore, the goal of this study was to compare the long-term outcomes and improvement patterns over time of VLNT versus LVA to lay open potential differences and aid in personalized counseling of future patients.

Methods
A prospectively maintained, encrypted database was analyzed for patients with chronic BCRL treated with either VLNT or LVA with a minimum follow-up of one year. Patient-specific variables, such as body weight and circumferential arm measurements at distinct locations on both arms were documented preoperatively and on regular postoperative outpatient follow-ups.

Results
This study comprised 112 patients, of which 107 patients fully completed the one-year follow-up period. Both VLNT and LVA achieved significant arm size reductions. LVA showed an early peak in effectiveness within the first three months, followed by a subsequent decrease and eventual stabilization. Contrarily, VLNT exhibited a distinct pattern with two significant peaks at three and eighteen months.

Conclusions
VLNT and LVA are both effective in long-term lymphedema management, yet they demonstrate marked differences in the timing of improvement. VLNT shows a delayed but more durable response, in contrast to the greater but shorter-lasting surge in effectiveness achieved by LVA. Interestingly, VLNT demonstrates an earlier onset of therapeutic impact than previously understood.
How information about historic carbon emissions affects support for climate aid: evidence from a survey experiment
Authors: Charnysh Volha , Kalow Jared , Lieberman Evan , Walk Erin 
Published: December 2024

AbstractIn recent years, international climate negotiations have reached increasing consensus that the wealthiest countries should make significant financial contributions to offset the damages caused by the climate crisis in poorer countries. Proponents have justified such action based on wealthy countries’ disproportionate responsibility for global warming in the form of past emissions. However, in democratic countries such as the United States, it remains uncertain whether such messages can affect public opinion, especially across partisan lines. We conducted a pre-registered survey from a national online pool (N = 5,002) with a built-in experiment to evaluate the effectiveness of alternative communications strategies associated with historic carbon emissions in increasing support for climate aid. We find that specific attribution claims that reflect a climate justice perspective do boost support for more generous climate aid, but the effects are largely driven by Democrats. We also find that global solidarity frames emphasizing shared responsibility did not affect support for climate aid. Our results have important implications for climate advocacy and our understanding of climate-related attitudes.
Propagation through seed or somatic embryogenesis: comparing the effects of two methods and methyl jasmonate treatment on Norway spruce resistance to Heterobasidion infection
Authors: Tudoran Amelia , Elfstrand Malin , Helmersson Andreas , Puentes Adriana 
Published: December 2024

AbstractThe clonal propagation method somatic embryogenesis (SE) has been shown to affect plant resistance to an insect pest. In a field trial, Norway spruce SE-plants (emblings) experienced less damage by the bark-chewing pine weevil compared to seedlings propagated through seeds from the same mother tree. Moreover, if emblings were treated with the defense-inducing hormone methyl jasmonate (MeJA), their resistance became much greater compared to the effects of SE and MeJA alone. Thus, we evaluated in a full factorial design if propagation method (seed or SE) and MeJA treatment (treated or not) can affect Norway spruce resistance to infection by the fungal pathogen Heterobasidion parviporum. Emblings and seedlings were half-sibs originating from four different Norway spruce families. We found that emblings and seedlings exhibited similar fungal lesion lengths (LL) and sapwood growth (SWG) in a constitutive state (no MeJA). Once treated, seedlings exhibited a 26% and 28% reduction in LL and SWG growth respectively, in line with previous studies. For emblings, it was the opposite. MeJA increased LL and SWG by 41% and 16% respectively. This is unexpected given the genetic relatedness of the material, and the previously documented effects of SE. It is possible that SE is causing changes in Norway spruce resistance that are effective against insects, but not pathogens. Also, MeJA treatment may be affecting embling terpene composition in ways that benefit fungal growth, as suggested from separate experiments. Further studies are needed to uncover the mechanisms behind the increased susceptibility of Norway spruce emblings to fungal infection.
“Feeling Like You Matter:” LGBTQ + Young Adult Perspectives on Affirmative Mental Healthcare
Authors: Mondave Marisa , Saleska Jessica , Wang Jing Jing , Bluma Elliot , Jackson Daynon , Tapia Yara , Yashar Leah , Zima Bonnie T. , Choi Kristen R. 
Published: December 2024

AbstractThe purpose of this study was to explore the experiences of LGBTQ + young people in mental healthcare and to understand their perspectives on what affirmative mental healthcare practice should look like. Between June and September of 2023, interviews were conducted with LGBTQ + young people ages 18–26 years in Los Angeles and Seattle. Interviews lasted 30 to 60 min and were transcribed verbatim for thematic analysis (N = 28). Four themes were developed from analysis of the interviews: (1) disconnection from community and self as an impetus for seeking formal mental healthcare; (2) marginalization during mental health service encounters; (3) the therapeutic power of belonging and mattering in the mental healthcare system; and (4) mutual human connection as the foundation for affirming mental healthcare experiences. Affirmative mental healthcare was defined by LGBTQ + young adults as free of judgment with priority placed on the therapeutic power of genuine human connection. The need for trans-specific mental healthcare was also highlighted. Participants also expressed a preference for providers with shared identities and experiences to alleviate feelings of isolation and increase feelings of connectivity. Mental health providers should emphasize connectivity and empathy to offer affirming care with LGBTQ + clients, such asking about client preferences for care, developing knowledge about sexuality and gender identity, and acknowledging provider limitations or knowledge gaps. Improving access to affirmative mental healthcare for LGBTQ + young adults (e.g., workforce development, training requirements) is needed to address the disparities in mental healthcare.