bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39
Authors: Viertauer Sebastian , Kurth Ingo , Eggermann Katja , Eggers Christian 
Published: August 2022

Abstract
Objectives
The term hereditary spastic paraplegia comprises an ever-expanding array of neurological disorders with distinct aetiologies. Spastic paraplegia gene 39 is one of the many genetically defined types with features of other organs and neurological systems in addition to paraspasticity. We describe a large kindred with a novel clinical phenotype as, in addition to spastic paraplegia, affected subjects suffered from a prominent cerebellar oculomotor dysfunction with two hitherto undescribed mutations of PNPLA6.

Methods
Three of five genetically tested family members of a large kindred were affected by spastic gait and a unique and prominent cerebellar oculomotor dysfunction. Further clinical, imaging, laboratory and videonystagmographic data were analyzed. Genetic analysis was done using next-generation sequencing.

Results
The most salient clinical feature, in addition to paraspasticity, in three of five subjects was cerebellar oculomotor dysfunction with an upbeating nystagmus provoked by downward gaze. Genetic analysis revealed two hitherto unknown sequence variants in the PNPLA6 gene, a splice-site variant c.1635 + 3G > T and a missense variant c.3401A > T, p.(Asp1134Val). In addition to cerebellar oculomotor dysfunction, compound-heterozygous siblings presented with paraspasticity and a moderate hypogonadotropic hypogonadism in the female. A paternal uncle being homozygous for the splice-site variant of PNPLA6 presented with increased lower limb reflexes and an unstable gait. Treatment with 4-aminopyridine, a potassium channel blocker, lead to meaningful improvement of clinical symptoms.

Conclusions
The unique and prominent cerebellar ocular motor disorder in our family broadens the spectrum of clinical phenotypes associated with variations in the PNLA6 gene. The finding of paraspasticity with cerebellar oculomotor dysfunction alongside inconspicuous brainstem imaging may raise suspicion of complex HSP with PNPLA6 mutations.
A three-minute all-out test performed in a remote setting does not provide a valid estimate of the maximum metabolic steady state
Authors: Maunder Ed , Rothschild Jeffrey A. , Ramonas Andrius , Delcourt Matthieu , Kilding Andrew E. 
Published: August 2022

Abstract
Purpose
The three-minute all-out test (3MT), when performed on a laboratory ergometer in a linear mode, can be used to estimate the heavy–severe-intensity transition, or maximum metabolic steady state (MMSS), using the end-test power output. As the 3MT only requires accurate measurement of power output and time, it is possible the 3MT could be used in remote settings using personal equipment without supervision for quantification of MMSS.

Methods
The aim of the present investigation was to determine the reliability and validity of remotely performed 3MTs (3MTR) for estimation of MMSS. Accordingly, 53 trained cyclists and triathletes were recruited to perform one familiarisation and two experimental 3MTR trials to determine its reliability. A sub-group (N = 10) was recruited to perform three-to-five 30 min laboratory-based constant-work rate trials following completion of one familiarisation and two experimental 3MTR trials. Expired gases were collected throughout constant-work rate trials and blood lactate concentration was measured at 10 and 30 min to determine the highest power output at which steady-state $${{\dot{V}O}}_{2}$$

V
˙

O

2

(MMSS-$${{\dot{V}O}}_{2}$$

V
˙

O

2

) and blood lactate (MMSS-[La−]) were achieved.

Results
The 3MTR end-test power (EPremote) was reliable (coefficient of variation, 4.5% [95% confidence limits, 3.7, 5.5%]), but overestimated MMSS (EPremote, 283 ± 51 W; MMSS-$${{\dot{V}O}}_{2}$$

V
˙

O

2

, 241 ± 46 W, P = 0.0003; MMSS-[La−], 237 ± 47 W, P = 0.0003). This may have been due to failure to deplete the finite work capacity above MMSS during the 3MTR.

Conclusion
These results suggest that the 3MTR should not be used to estimate MMSS in endurance-trained cyclists.
HMGA1 gene expression level in cancer tissue and blood samples of non-small cell lung cancer (NSCLC) patients: preliminary report
Authors: Saed Lias , Balcerczak Ewa , Łochowski Mariusz , Olechnowicz Ewa , Sałagacka-Kubiak Aleksandra 
Published: August 2022

AbstractThe study aimed to assess the HMGA1 gene expression level in NSCLC patients and to evaluate its association with selected clinicopathological features and overall survival of patients. The expression of the HMGA1, coding non-histone transcription regulator HMGA1, was previously proved to correlate with the ability of cancer cells to metastasize the advancement of the disease. The prognostic value of the HMGA1 expression level was demonstrated in some neoplasms, e.g., pancreatic, gastric, endometrial, hepatocellular cancer, but the knowledge about its role in non-small cell lung cancer (NSCLC) is still limited. Thus, the HMGA1 expression level was evaluated by real-time PCR method in postoperative tumor tissue and blood samples collected at the time of diagnosis, 100 days and 1 year after surgery from 47 NSCLC patients. Mean HMGA1 expression level in blood decreased systematically from the time of cancer diagnosis to 1 year after surgery. The blood HMGA1 expression level 1 year after surgery was associated with the tobacco smoking status of patients (p= 0.0230). Patients with high blood HMGA1 expression levels measured 100 days after surgery tend to have worse overall survival than those with low expression levels (p= 0.1197). Tumor HMGA1 expression level was associated with neither features nor the overall survival of NSCLC patients. Moreover, no correlation between HMGA1 expression level measured in tumor tissue and blood samples was stated. Blood HMGA1 mRNA level could be a promising factor in the prognostication of non-small cell lung cancer patients.
Was bringen Ufergehölze für die Wasser- und Sedimentqualität von Bächen in landwirtschaftlichen Regionen?
Authors: Weigelhofer Gabriele , Leopold Melanie , Akbari Elmira , Farnleitner Andreas , Kirschner Alexander 
Published: August 2022

ZusammenfassungLandwirtschaft führt zu einer Belastung von Bächen durch Nährsalze und Fäkalkeime. Das Ziel der Studie ist, das Potenzial von Ufergehölzen zu untersuchen, derartige Belastungen zu reduzieren und zu einer verbesserten Wasser- und Sedimentqualität zu gelangen. Wir analysierten, wie Ufergehölze die Sedimentstruktur, den Sauerstoffverbrauch, die Aufnahmekapazität für Phosphor und die Akkumulation von eingetragenen Fäkalkeimen beeinflussen. Dazu untersuchten wir die Wasser- und Sedimentqualität von 20 Bachabschnitten mit und ohne Ufergehölzen in landwirtschaftlichen Regionen in Niederösterreich. Die Proben wurden jeweils am Ende eines 1 km langen Abschnitts mit Ufergehölzstreifen sowie unmittelbar davor entnommen.Die Ergebnisse rangierten zwischen einer deutlichen Verbesserung der Sedimentqualität (reduzierte Feinsedimentanteile, geringerer Sauerstoffverbrauch) bis hin zu einer Verschlechterung. An sieben Bächen konnte eine verbesserte Aufnahmekapazität für Phosphor in den Abschnitten mit Ufergehölzen beobachtet werden. Auch Bäche mit geringen Keimzahlen im fließenden Wasser zeigten Akkumulationen von Fäkalkeimen in den Sedimenten. Gründe für eine fehlende Wirkung von Ufergehölzstreifen auf die Wasser- und Sedimentqualität waren zu kurze, lückenhafte Ufergehölzstreifen, konvergente Wasserpfade, die die Gehölzstreifen durchbrachen, oder eine zu hohe Belastung aus darüberlegenden Strecken. Das Projekt zeigt, dass Ufergehölzstreifen die Wasser- und Sedimentqualität von Bächen in landwirtschaftlichen Einzugsgebieten verbessern können, wenn deren Beschaffenheit und Länge den stofflichen Belastungen entsprechen.
Assessing vascular complexity of PAOD patients by deep learning-based segmentation and fractal dimension
Authors: Bruno Pierangela , Spadea Maria Francesca , Scaramuzzino Salvatore , De Rosa Salvatore , Indolfi Ciro , Gargiulo Giuseppe , Giugliano Giuseppe , Esposito Giovanni , Calimeri Francesco , Zaffino Paolo 
Published: August 2022

AbstractThe assessment of vascular complexity in the lower limbs provides relevant information about peripheral artery occlusive diseases (PAOD), thus fostering improvements both in therapeutic decisions and prognostic estimation. The current clinical practice consists of visually inspecting and evaluating cine-angiograms of the interested region, which is largely operator-dependent. We present here an automatic method for segmenting the vessel tree and compute a quantitative measure, in terms of fractal dimension (FD), of the vascular complexity. The proposed workflow consists of three main steps: (i) conversion of the cine-angiographies to single static images with a broader field of view, (ii) automatic segmentation of the vascular trees, and (iii) calculation and assessment of FD as complexity index. In particular, this work defines (1) a method to reduce the inter-observer variability in judging vascular complexity in cine-angiography images from patients affected by peripheral artery occlusive disease (PAOD), and (2) the use of Fractal Dimension as a metric of shape complexity of vascular tree. The inter-class correlation coefficient (ICC) is computed as inter-observer agreement metric and to account for possible systematic error, that depends on the experience of the raters. The automatic segmentation of vascular tree achieved an Area Under the Curve mean value of $$0.77~\pm ~0.07$$

0.77

±

0.07

, with a min-max range of $$0.57-0.87$$

0.57
-
0.87

. Absolute operator agreement was higher over the segmented image ($$ICC=0.96$$

I
C
C
=
0.96

) compared to the video ($$ICC=0.76$$

I
C
C
=
0.76

) and the a broader field of view image ($$ICC=0.92$$

I
C
C
=
0.92

). Fractal Dimension computed on both manual segmented images (ground truths) and automatically showed a good correlation with the clinical score (0.85 and 0.75, respectively). Experimental analyses suggest that extracting the vascular tree from cine-angiography can substantially improve the reliability of visual assessment of vascular complexity in PAOD. Results also reveal the effectiveness of FD in evaluating complex vascular tree structures.
Health-related quality of life with enzalutamide versus flutamide in castration-resistant prostate cancer from the AFTERCAB study
Authors: Uemura Hiroji , Kobayashi Kazuki , Yokomizo Akira , Hinotsu Shiro , Horie Shigeo , Kakehi Yoshiyuki , Nonomura Norio , Ogawa Osamu , Oya Mototsugu , Suzuki Kazuhiro , Saito Atsushi , Asakawa Keiko , Uno Satoshi , Naito Seiji 
Published: August 2022

Abstract
Background
Patient-reported outcome (PRO) measures can provide valuable information in evaluating patients’ health-related quality of life (HRQoL). Post hoc analysis of the AFTERCAB study was conducted to evaluate the HRQoL benefit of enzalutamide plus androgen deprivation therapy (ADT) compared to flutamide plus ADT for the treatment of patients with castration-resistant prostate cancer (CRPC) in Japan.

Methods
The open-label AFTERCAB study was conducted from November 2016 to March 2020 in Japanese men aged ≥ 20 years with asymptomatic or mildly symptomatic CRPC. Patients received enzalutamide plus ADT or flutamide plus ADT, respectively, as first-line alternative androgen therapy (AAT). HRQoL was analyzed through the Functional Assessment of Cancer Therapy–Prostate, EuroQoL 5-Dimension 5-Level instruments, Brief Pain Inventory–Short Form, and Brief Fatigue Inventory. The longitudinal changes in HRQoL, HRQoL deterioration based on minimally important difference (MID), and time to HRQoL deterioration were evaluated for first-line AAT.

Results
Overall, HRQoL between the enzalutamide and flutamide groups was similar during first-line treatment. No statistically significant HRQoL difference in change from baseline to week 61 (least square mean difference; p value) was observed. Furthermore, proportions of pain progression, symptom worsening, and HRQoL deterioration based on MID, were not significantly different between groups.

Conclusions
The results were similar in all subscales of each PRO, demonstrating similar HRQoL deterioration based on MID criteria between the enzalutamide and flutamide groups.
Phase I study of lurbinectedin in combination with weekly paclitaxel with or without bevacizumab in patients with advanced solid tumors
Authors: Calvo Emiliano , Sessa Cristiana , Harada Guilherme , de Miguel Maria , Kahatt Carmen , Luepke-Estefan Xarles Erik , Siguero Mariano , Fernandez-Teruel Carlos , Cullell-Young Martin , Stathis Anastasios , Drilon Alexander 
Published: August 2022

SummaryLurbinectedin and paclitaxel showed synergism in preclinical studies and have non-completely overlapping toxicity profiles. This phase I trial evaluated a combination of paclitaxel and lurbinectedin with/without bevacizumab in advanced tumors. This trial was divided into Group A, which evaluated weekly paclitaxel (60 or 80 mg) plus lurbinectedin (3.0–5.0 mg flat dose [FD] or 2.2 mg/m2) every 3 weeks in advanced solid tumors; and Group B, which evaluated bevacizumab (BEV, 15 mg/kg) added to the recommended dose (RD) defined in Group A in advanced epithelial ovarian or non-small cell lung cancer (NSCLC). 67 patients (A, n = 55; B, n = 12) were treated. The RD was paclitaxel 80 mg/m2 on Day (D)1,D8 plus lurbinectedin 2.2 mg/m2 on D1. At this RD, myelotoxicity was reversible and manageable, and most non-hematological toxicities were mild/moderate. Adding BEV did not notably change tolerability. Twenty-five confirmed responses were observed: 20/51 evaluable patients in Group A (overall response rate [ORR] = 39% at all dose levels and at the RD), and 5/10 evaluable patients in Group B (ORR = 50%). Most responders had breast (n = 7/12 patients), small cell lung (SCLC) (n = 5/7), epithelial ovarian (n = 3/9) and endometrial cancer (n = 3/11) in Group A, and epithelial ovarian (n = 3/4) and NSCLC (n = 2/6) in Group B. Clinical benefit rate was 61% in Group A (58% at the RD), and 90% in Group B. No major pharmacokinetic drug-drug interactions were observed. Paclitaxel/lurbinectedin and paclitaxel/lurbinectedin/BEV are feasible combinations. Further development is warranted of paclitaxel/lurbinectedin in SCLC, breast, and endometrial cancer, and of paclitaxel/lurbinectedin/BEV in epithelial ovarian cancer.
Controlling non-controllable scallops
Authors: Zoppello Marta , Morandotti Marco , Bloomfield-Gadêlha Hermes 
Published: August 2022

AbstractA swimmer embedded on an inertialess fluid must perform a non-reciprocal motion to swim forward. The archetypal demonstration of this unique motion-constraint was introduced by Purcell with the so-called “scallop theorem”. Scallop here is a minimal mathematical model of a swimmer composed by two arms connected via a hinge whose periodic motion (of opening and closing its arms) is not sufficient to achieve net displacement. Any source of asymmetry in the motion or in the forces/torques experienced by such a scallop will break the time-reversibility imposed by the Stokes linearity and lead to subsequent propulsion of the scallop. However, little is known about the controllability of time-reversible scalloping systems. Here, we consider two individually non-controllable scallops swimming together. Under a suitable geometric assumption on the configuration of the system, it is proved that controllability can be achieved as a consequence of their hydrodynamic interaction. A detailed analysis of the control system of equations is carried out analytically by means of geometric control theory. We obtain an analytic expression for the controlled displacement after a prescribed sequence of controls as a function of the phase difference of the two scallops. Numerical validation of the theoretical results is presented with model predictions in further agreement with the literature.
Reduction of FeO in Molten Slag by Solid Carbonaceous Materials for HIsarna Alternative Ironmaking Process
Authors: Khasraw Darbaz , Yan Zhiming , Hage Johannes L. T. , Meijer Koen , Li Zushu 
Published: August 2022

Abstract
To investigate the use of biomass in the novel HIsarna technology, the reduction of FeO in the slag by chars produced from thermal coal (TC), charcoal (CC), and Bana grass char (BGC) was studied. A drop tube furnace coupled with a quadrupole mass spectrometer (DTF-QMS) was employed to study the injection of chars into pre-melted slag in the temperature range between 1450 °C and 1525 °C. The reduction rate was calculated from evolved gases and the extent of FeO reduction was confirmed by wavelength-dispersive X-ray fluorescence (WDXRF). The FeO reduction proceeds through two stages, starting with a rapid reduction, which is dependent on the carbon type, and followed by gradual leveling off. The reduction rate with the charcoal char (CC) was the highest, over 60 pct reduction was achieved in the first 500 seconds at 1500 °C, while ~ 50 and 40 pct achieved with TC and BGC chars, respectively, for the same reaction time. The kinetic analysis suggests that the first and second stages of the reaction can be described by the second-order (F2) and three-dimensional diffusion (D3) models, respectively. The apparent activation energy values for the first stage were 290, 229 and 267 kJ/mol for reactions with TC, CC and BGC chars, while 265, 369, and 282 kJ/mol were obtained for the second stage. Based on the experimental data and kinetic results, it can be concluded that the first stage is controlled by chemical reactions on the carbon surface, and the second stage is influenced by a mixed-controlling mechanism.
Fiber structures and material science in optical fiber magnetic field sensors
Authors: Zhang Jing , Wang Chen , Chen Yunkang , Xiang Yudiao , Huang Tianye , Shum Perry Ping , Wu Zhichao 
Published: August 2022

AbstractMagnetic field sensing plays an important role in many fields of scientific research and engineering applications. Benefiting from the advantages of optical fibers, the optical fiber-based magnetic field sensors demonstrate characteristics of light weight, small size, remote controllability, reliable security, and wide dynamic ranges. This paper provides an overview of the basic principles, development, and applications of optical fiber magnetic field sensors. The sensing mechanisms of fiber grating, interferometric and evanescent field fiber are discussed in detail. Magnetic fluid materials, magneto-strictive materials, and magneto-optical materials used in optical fiber sensing systems are also introduced. The applications of optical fiber magnetic field sensors as current sensors, geomagnetic monitoring, and quasi-distributed magnetic sensors are presented. In addition, challenges and future development directions are analyzed.
Graphical Abstract
Temperature Gradient Analyses of a Tubular Solid Oxide Fuel Cell Fueled by Methanol
Authors: Xu Qidong , Guo Meiting , Xia Lingchao , Li Zheng , He Qijiao , Zhao Dongqi , Zheng Keqing , Ni Meng 
Published: August 2022

AbstractThermal management in solid oxide fuel cells (SOFC) is a critical issue due to non-uniform electrochemical reactions and convective flows within the cells. Therefore, a 2D mathematical model is established herein to investigate the thermal responses of a tubular methanol-fueled SOFC. Results show that unlike the low-temperature condition of 873 K, where the peak temperature gradient occurs at the cell center, it appears near the fuel inlet at 1073 K because of the rapid temperature rise induced by the elevated current density. Despite the large heat convection capacity, excessive air could not effectively eliminate the harmful temperature gradient caused by the large current density. Thus, optimal control of the current density by properly selecting the operating potential could generate a local thermal neutral state. Interestingly, the maximum axial temperature gradient could be reduced by about 18% at 973 K and 20% at 1073 K when the air with a 5 K higher temperature is supplied. Additionally, despite the higher electrochemical performance observed, the cell with a counter-flow arrangement featured by a larger hot area and higher maximum temperature gradients is not preferable for a ceramic SOFC system considering thermal durability. Overall, this study could provide insightful thermal information for the operating condition selection, structure design, and stability assessment of realistic SOFCs combined with their internal reforming process.
Two new species of Staurogyne (Acanthaceae) from northern Myanmar
Authors: Wood John R. I. , Nwe Thet Yu , Armstrong Kate E. 
Published: August 2022

SummaryTwo new species of Staurogyne, S. yamokmehong J.R.I.Wood & K.Armstr. and S. filisepala J.R.I.Wood & K.Armstr. from Hkamti District, Sagaing Region in northern Myanmar, are described and illustrated. Notes on their affinities, conservation status and habitat are included. Attention is drawn to the medicinal uses of S. yamokmehong by Shan Ni communities living in Hkamti District.
Perception, Action, and Sense Making: The Three Realms of the Aesthetic
Authors: van Heusden Barend 
Published: August 2022

AbstractIt is argued that Kull’s approach to aesthetics complements a cognitive semiotic approach to culture. The concept of ‘ecological, semiotic fitting’ allows us to connect the three main concepts of beauty we encounter in discussions about the aesthetic, where the term beauty is, firstly, used to refer a positive experience in relation to what is perceived, or, secondly, to a positive experience in relation to an intentional action or, thirdly, to a positive experience in relation to a sense making process. Kull makes a strong case for the ‘ecological, semiotic fitting’ being the common underlying structure of all three manifestations of the aesthetic.
Recent Air Quality Deterioration on Weekends in Seoul, South Korea: a Focus on External Contribution
Authors: Choi Woosuk , Ho Chang-Hoi , Heo Jin-Woo , Kim Ka-Young , Kim Sang-Woo , Kim Jinwon 
Published: August 2022

AbstractThis study has found that the wintertime (November–March) air quality in Seoul, Korea had been deteriorated in weekends during the period of 2016–2019. Specifically, the concentration of particulate matters (PMs) of aerodynamic diameter less than 2.5 μm (PM2.5) in weekends (Saturday–Sunday) was up to 30% higher than that in the mid-week (Wednesday–Thursday) days (probability value < 0.01). As the weekend PM concentration had been lower than the mid-week values by 10% until 2015, such a sudden change in the intra-weekly air quality is unexpected. This study finds out that the deterioration of air quality in weekends can be attributed primarily to secondary particle formations and external transports from China (Shandong and northeast provinces) and domestic provinces (southern Gyeonggi and Chungcheong in Korea) to Seoul. High concentration of PM2.5 on weekend could be partially explained by the differences in the concentrations of inorganic PM components including nitrate, ammonium, and sulfate between weekends and mid-week days. About 40% of the differences are attributed to the domestic sources located in the southern region to Seoul. However, domestic emission from power generations and industry sector in southern source region on weekends does not well explain the variations of the PM precursors in weekends. Therefore, a clear strategy for improving air quality on the weekend in Seoul requires steady efforts to accurately calculate regional emissions and to reveal missing emissions sources.