bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evaluating BRCA mutation risk predictive models in a Chinese cohort in Taiwan
Authors: Hung Fei-Hung , Wang Yong Alison , Jian Jhih-Wei , Peng Hung-Pin , Hsieh Ling-Ling , Hung Chen-Fang , Yang Max M. , Yang An-Suei 
Published: July 2019

AbstractAccurate estimation of carrier probabilities of cancer susceptibility gene mutations is an important part of pre-test genetic counselling. Many predictive models are available but their applicability in the Asian population is uncertain. We evaluated the performance of five BRCA mutation risk predictive models in a Chinese cohort of 647 women, who underwent germline DNA sequencing of a cancer susceptibility gene panel. Using areas under the curve (AUCs) on receiver operating characteristics (ROC) curves as performance measures, the models did comparably well as in western cohorts (BOADICEA 0.75, BRCAPRO 0.73, Penn II 0.69, Myriad 0.68). For unaffected women with family history of breast or ovarian cancer (n = 144), BOADICEA, BRCAPRO, and Tyrer-Cuzick models had excellent performance (AUC 0.93, 0.92, and 0.92, respectively). For women with both personal and family history of breast or ovarian cancer (n = 241), all models performed fairly well (BOADICEA 0.79, BRCAPRO 0.79, Penn II 0.75, Myriad 0.70). For women with personal history of breast or ovarian cancer but no family history (n = 262), most models did poorly. Between the two well-performed models, BOADICEA underestimated mutation risks while BRCAPRO overestimated mutation risks (expected/observed ratio 0.67 and 2.34, respectively). Among 424 women with personal history of breast cancer and available tumor ER/PR/HER2 data, the predictive models performed better for women with triple negative breast cancer (AUC 0.74 to 0.80) than for women with luminal or HER2 overexpressed breast cancer (AUC 0.63 to 0.69). However, incorporating ER/PR/HER2 status into the BOADICEA model calculation did not improve its predictive accuracy.
Contribution of the uremic milieu to an increased pro-inflammatory monocytic phenotype in chronic kidney disease
Authors: Borges Bonan Natalia , Schepers Eva , Pecoits-Filho Roberto , Dhondt Annemieke , Pletinck Anneleen , De Somer Filip , Vanholder Raymond , Van Biesen Wim , Moreno-Amaral Andréa , Glorieux Griet 
Published: July 2019

AbstractIntermediate (CD14++CD16+) monocytes have important pro-inflammatory and atherogenic features and are increased in patients with chronic kidney disease (CKD). The present study aims to elucidate the role of the uremic milieu and of platelet activation in monocyte differentiation. Monocyte subtypes were analyzed in CKD patients (n = 193) and healthy controls (n = 27). Blood from healthy controls (Ctrl; n = 8) and hemodialysis patients (HD; n = 8) was centrifuged, and plasma (pl) was exchanged between Ctrl and HD (Ctrlcells/HDpl and HDcells/Ctrlpl) or reconstituted as original (Ctrlsham and HDsham) and incubated for 24 h (T24). Monocyte differentiation and platelet aggregation to monocytes (MPA) was assessed by flow cytometry. Especially, a higher proportion of CD14++CD16+ monocytes was found in hemodialysis (HD) patients (p < 0.01). In plasma exchange experiments, Ctrl cells/HD pl T24 showed an increased percentage of CD14++CD16+ monocytes versus Ctrl sham (33.7% ± 15 vs. 15.7% ± 9.6; P < 0.005), comparable to the level of CD14++CD16+ monocytes in the HD sham condition. The percentage of CD14++CD16+ monocytes was lowered by suspending HD cells in Ctrl pl (18.4% ± 7.8 vs. 36.7% ± 15 in HD sham; P < 0.005) reaching the level of the Ctrl sham condition (15.7% ± 9.6). A mixture of uremic sulfates increased CD14++CD16+ monocytes compared to control (19.8 ± 9.6% vs. 15.8 ± 10.9%; P < 0.05), paralleled by a rise MPA. Blocking MPA by abciximab, a potential therapeutic strategy, or anti-CD62P did not inhibit differentiation towards the CD14++CD16+ monocytes. In conclusion, in the present cohort, CD14++CD16+ monocytes are especially increased in HD patients and this can at least in part be attributed to the presence of the uremic milieu, with uremic sulfates inducing a reversible shift towards pro-inflammatory CD14++CD16+ monocytes.
The influence on survival of delay in the treatment initiation of screening detected non-symptomatic breast cancer
Authors: Li Yan , Zhou Yidong , Mao Feng , Guan Jinghong , Lin Yan , Wang Xuejing , Zhang Yanna , Zhang Xiaohui , Shen Songjie , Sun Qiang 
Published: July 2019

AbstractWe aimed to determine whether the detection-to-treatment interval of non-symptomatic breast cancer is associated with factors that can predict survival outcomes. A retrospective review of the Breast Surgery Department Database at Peking Union Medical College Hospital (PUMCH) was performed, and a total of 1084 non-symptomatic invasive breast cancer patients were included. The findings revealed that detection-to-treatment interval was significantly longer for women who were older (p = 0.001), lived in rural areas (p = 0.024), had lower education (p = 0.024), and had detection in other institutions (p = 0.006). Other sociodemographic and clinicopathological characteristics were not associated to longer interval. A median follow-up of 35 months (range: 6–60 months) was carried out and a long delay at more than 90 days did not significantly decrease the DFS (univariate, P = 0.232; multivariate, P = 0.088). For triple negative breast cancer, there was a worse DFS if the interval was longer than 90 days both in multivariate analysis (hazard ratio [HR] = 3.40; 95% CI, 1.12–10.35; P = 0.031) and univariate analysis (HR = 2.86; 95% CI, 1.03–7.91; P = 0.042). Further studies on care before initial treatment of non-symptomatic breast cancers are warranted.
Suppressed Growth of (Fe, Cr, Co, Ni, Cu)Sn2 Intermetallic Compound at Interface between Sn-3.0Ag-0.5Cu Solder and FeCoNiCrCu0.5 Substrate during Solid-state Aging
Authors: Shen Yu-An , Lin Chun-Ming , Li Jiahui , Gao Runhua , Nishikawa Hiroshi 
Published: July 2019

AbstractHigh-entropy alloys (HEAs) are promising materials for next-generation applications because of their mechanical properties, excellent high-temperature stability, and resistance against oxidation and corrosion. Although many researchers have investigated high-temperature HEA applications, few have considered low-temperature applications. Here we demonstrate an unprecedented intermetallic compound of (Fe, Cr, Co, Ni, Cu)Sn2 at the interface between Sn-3.0Ag-0.5Cu (SAC) solder and FeCoNiCrCu0.5 HEA substrate after reflow at 400 °C. Significantly suppressed growth of intermetallic compound without detachment from the substrate was observed during thermal aging at 150 °C for 150 h. Sn grains with an average grain size of at least 380 μm are observed. The results reveal a completely new application for the fields of Sn-Ag-Cu solder and HEA materials.
The catalytic mechanism for NO production by the mitochondrial enzyme, sulfite oxidase
Authors: Mutus Bulent 
Published: July 2019

Abstract
Recently, Guenter Schwarz and colleagues published an elegant study in the Biochemical Journal (2019) 476, 1805–1815 which combines kinetic and spectroscopic studies with protein engineering to provide a mechanism for sulfite oxidase (SO)-catalyzed nitrite reduction that yields nitric oxide (NO). This work is noteworthy as it demonstrates that (i) for NO generation, both sulfite and nitrite must bind to the same molybdenum (Mo) center; (ii) upon sulfite reduction, Mo is reduced from +6 (MoVI) to +4 (MoIV) and MoIV reduces nitrite to NO yielding MoV; (iii) the heme moiety, linked to the Mo-center by an 11 amino acid residue tether, gets reduced by intramolecular electron transfer (IET) resulting in MoV being oxidized to MoVI; (iv) the reduced heme transfers its electron to a second nitrite molecule converting it to NO; (v) the authors demonstrate steady-state NO production in the presence of the natural electron acceptor cytochrome c; (vi) Finally, the authors use protein engineering to shorten the heme tether to reduce the heme-Mo-center distance with the aim of increasing NO production. Consequently, the rate of IET to cytochrome c is decreased but the enzymatic turnover rate for NO production is increased by ∼10-fold. This paper is unique as it provides strong evidence for a novel mechanism for steady-state NO production for human mitochondrial SO and serves as a potential template for studying NO production mechanisms in other enzymes by integrating the information gained from enzyme kinetics with EPR and UV/vis spectroscopy and protein engineering.
Speech Fluency in Acquired Apraxia of Speech During Narrative Discourse: Group Comparisons and Dual-Task Effects
Authors: Harmon Tyson G. , Jacks Adam , Haley Katarina L. 
Published: July 2019

Purpose
Slowed speech and interruptions to the flow of connected speech are common in aphasia. These features are also observed during dual-task performance for neurotypical adults. The purposes of this study were to determine (a) whether indices of fluency related to cognitive–linguistic versus motor processing would differ between speakers with aphasia plus apraxia of speech (AOS) and speakers with aphasia only and (b) whether cognitive load reduces fluency in speakers with aphasia with and without AOS.

Method
Fourteen speakers with aphasia (7 with AOS) and 7 neurotypical controls retold short stories alone (single task) and while simultaneously distinguishing between a high and a low tone (dual task). Their narrative samples were analyzed for speech fluency according to sample duration, speech rate, pause/fill time, and repetitions per syllable.

Results
As expected, both speaker groups with aphasia spoke slower and with more pauses than the neurotypical controls. The speakers with AOS produced more repetitions and longer samples than controls, but they did not differ on these measures from the speakers with aphasia without AOS. Relative to the single-task condition, the dual-task condition increased the duration of pauses and fillers for all groups but reduced speaking rate only for the control group. Sample duration and frequency of repetitions did not change in response to cognitive load.

Conclusions
Speech output in aphasia becomes less fluent when speakers have to engage in simultaneous tasks, as is typical in everyday conversation. Although AOS may lead to more sound and syllable repetitions than normal, speaking tasks other than narrative discourse might better capture this specific type of disfluency. Future research is needed to confirm and expand these preliminary findings.

Supplemental Material

https://doi.org/10.23641/asha.8847845
Feasibility of Automatic Speech Recognition for Providing Feedback During Tablet-Based Treatment for Apraxia of Speech Plus Aphasia
Authors: Ballard Kirrie J. , Etter Nicole M. , Shen Songjia , Monroe Penelope , Tien Tan Chek 
Published: July 2019

Purpose
Individuals with neurogenic speech disorders require ongoing therapeutic support to achieve functional communication goals. Alternative methods for service delivery, such as tablet-based speech therapy applications, may help bridge the gap and bring therapeutic interventions to the patient in an engaging way. The purpose of this study was to evaluate an iPad-based speech therapy app that uses automatic speech recognition (ASR) software to provide feedback on speech accuracy to determine the ASR's accuracy against human judgment and whether participants' speech improved with this ASR-based feedback.

Method
Five participants with apraxia of speech plus aphasia secondary to stroke completed an intensive 4-week at-home therapy program using a novel word training app with built-in ASR. Multiple baselines across participants and behaviors designs were employed, with weekly probes and follow-up at 1 month posttreatment. Four sessions a week of 100 practice trials each were prescribed, with 1 being clinician-run and the remainder done independently. Dependent variables of interest were ASR–human agreement on accuracy during practice trials and human-judged word production accuracy over time in probes. Also, user experience surveys were completed immediately posttreatment.

Results
ASR–human agreement on accuracy averaged ~80%, which is a common threshold applied for interrater agreement. All participants demonstrated improved word production accuracy over time with the ASR-based feedback and maintenance of gains after 1 month. All participants reported enjoying using the app with support of a speech pathologist.

Conclusion
For these participants with apraxia of speech plus aphasia due to stroke, satisfactory gains were made in word production accuracy with an app-based therapy program providing ASR-based feedback on accuracy. Findings support further testing of this ASR-based approach as a supplement to clinician-run sessions to assist clients with similar profiles in achieving higher amount and intensity of practice as well as empowering them to manage their own therapy program.

Supplemental Material

https://doi.org/10.23641/asha.8206628
Filled Pauses as a Special Case of Automatic Speech Behaviors and the Effect of Parkinson's Disease
Authors: Alvar Ann M. , Lee Jiyeon , Huber Jessica E. 
Published: July 2019

Purpose

In Parkinson's disease (PD), there are significant changes in the basal ganglia, a structure known to be important for controlling automatic responses to cues. Changes to the basal ganglia in PD impair an individual's ability to trigger a behavior in response to cues, but more so in response to internal cue
s
more than external ones. Filled pauses are considered a subconscious or automatic speech response to an internal cue that there are difficulties with ongoing communication. Typical speakers use filled pauses (such as
uh
or
um
) to mark silent pauses. The purpose of this study was to examine how automatic speech responses are impacted in PD by looking at filled and silent pausing behaviors, extending our understanding of the role of the basal ganglia in automatic behaviors. We hypothesized that individuals with PD would use fewer filled pauses and longer silent pauses. We also hypothesized that longer pauses would be more likely to be marked with filled pauses and that this relationship would be weaker in speakers with PD.

Method

Speech samples were collected via a story-retelling task from 15 individuals with PD and 18 age-matched controls. Duration and frequency of filled and silent pauses were measured using spectrographic analysis. Number and duration of marked silent pauses (those consecutive with 1 or more filled pauses) were measured. The
t
tests and analyses of variance were used to test our hypotheses.

Results
There was no significant difference in the number of silent pauses between groups, but the duration of silent pauses was significantly greater for individuals with PD. Despite this, individuals with PD produced significantly fewer filled pauses and fewer marked silent pauses. For both groups, longer silent pauses were more likely to be marked by filled pauses, but individuals with PD marked a smaller percentage of silent pauses at longer durations than controls.

Conclusions
Producing fewer marked silent pauses, coupled with longer silent pauses, reduces natural cues to discourse and puts people with PD at greater risk of sounding unnatural and losing their communicative turn. These results suggest that automatic responses regarding speech production difficulties are impaired by PD. This interpretation fits with nonspeech literature where automatic responses have been demonstrated to be impaired in PD.
Dysarthria Profiles in Adults With Hereditary Ataxia
Authors: Spencer Kristie A. , Dawson Mallory 
Published: July 2019

Purpose
This preliminary study examined whether speech profiles exist for adults with hereditary ataxia based on 2 competing frameworks: a pattern of instability/inflexibility or a pattern of differential subsystem involvement.

Method
Four dysarthria experts rated the speech samples of 8 adults with dysarthria from hereditary ataxia using visual analog scales and presence/severity rating scales of speech characteristics. Speaking tasks included diadochokinetics, sustained phonation, and a monologue.

Results
Speech profiles aligned with the instability/inflexibility framework, with the pattern of instability being the most common. Speech profiles did not emerge for the majority of speakers using the differential subsystem framework.

Conclusions
The findings extend previous research on pure ataxic dysarthria and suggest a possible framework for understanding the speech heterogeneity associated with the ataxias. The predominance of the instability profile is consistent with the notion of impaired feedforward control in speakers with cerebellar disruption.
The Effects of Modulating Fundamental Frequency and Speech Rate on the Intelligibility, Communication Efficiency, and Perceived Naturalness of Synthetic Speech
Authors: Vojtech Jennifer M. , Noordzij Jacob P. , Cler Gabriel J. , Stepp Cara E. 
Published: July 2019

PurposeThis study investigated how modulating fundamental frequency (f0) and speech rate differentially impact the naturalness, intelligibility, and communication efficiency of synthetic speech.MethodSixteen sentences of varying prosodic content were developed via a speech synthesizer. The f0 contour and speech rate of these sentences were altered to produce 4 stimulus sets: (a) normal rate with a fixed f0 level, (b) slow rate with a fixed f0 level, (c) normal rate with prosodically natural f0 variation, and (d) normal rate with prosodically unnatural f0 variation. Sixteen listeners provided orthographic transcriptions and judgments of naturalness for these stimuli.ResultsSentences with f0 variation were rated as more natural than those with a fixed f0 level. Conversely, sentences with a fixed f0 level demonstrated higher intelligibility than those with f0 variation. Speech rate did not affect the intelligibility of stimuli with a fixed f0 level. Communication efficiency was highest for sentences produced at a normal rate and a fixed f0 level.ConclusionsSentence-level f0 variation increased naturalness ratings of synthesized speech, whether the variation was prosodically natural or not. However, these f0 variations reduced intelligibility. There is evidence of a trade-off in naturalness and intelligibility of synthesized speech, which may impact future speech synthesis designs.Supplemental Materialhttps://doi.org/10.23641/asha.8847833
Probing the shape of the mixing profile and of the thermal structure at the convective core boundary through asteroseismology
Authors: Michielsen M. , Pedersen M. G. , Augustson K. C. , Mathis S. , Aerts C. 
Published: July 2019

Aims. We investigate from a theoretical perspective if space asteroseismology can be used to distinguish between different thermal structures and shapes of the near-core mixing profiles for different types of coherent oscillation modes in massive stars with convective cores; we also examine whether this capacity depends on the evolutionary stage of the models along the main sequence.
Methods. We computed 1D stellar structure and evolution models for four different prescriptions of the mixing and temperature gradient in the near-core region. We investigated their effect on the frequencies of dipole prograde gravity modes in slowly pulsating B stars and in β Cep stars as well as pressure modes in β Cep stars.
Results. A comparison between the mode frequencies of the different models at various stages during the main sequence evolution reveals that they are more sensitive to a change in temperature gradient than to the exact shape of the mixing profile in the near-core region. Depending on the duration of the observed light curve, we can distinguish between either just the temperature gradient, or also between the shapes of the mixing coefficient. The relative frequency differences are in general larger for more evolved models and are largest for the higher frequency pressure modes in β Cep stars.
Conclusions. In order to unravel the core boundary mixing and thermal structure of the near-core region, we must have asteroseismic masses and radii with ∼1% relative precision for hundreds of stars.
Updating the theoretical tidal evolution constants: Apsidal motion and the moment of inertia
Authors: Claret A. 
Published: July 2019

Context. The theoretical apsidal motion constants are key tools to investigate the stellar interiors in close eccentric binary systems. In addition, these constants and the moment of inertia are also important to investigate the tidal evolution of close binary stars as well as of exo-planetary systems.
Aims. The aim of the paper is to present new evolutionary models, based on the MESA package, that include the internal structure constants (k2, k3, and k4), the radius of gyration, and the gravitational potential energy for configurations computed from the pre-main-sequence up to the first ascent giant branch or beyond. The calculations are available for the three metallicities [Fe/H] = 0.00, −0.50, and −1.00, which take the recent investigations in less metallic environments into account. This new set of models replaces the old ones, published about 15 years ago, using the code GRANADA.
Methods. Core overshooting was taken into account using the mass-fov relationship, which was derived semi-empirically for models more massive than 1.2 M⊙. The differential equations governing the apsidal motion constants, moment of inertia, and the gravitational potential energy were integrated simultaneously through a fifth-order Runge-Kutta method with a tolerance level of 10−7.
Results. The resulting models (from 0.8 up to 35.0 M⊙) are presented in 54 tables for the three metallicities, containing the usual characteristics of an evolutionary model (age, initial masses, log Teff, log g, and log L), the constants of internal structure (k2, k3, and k4), the radius of gyration β, and the factor α that is related with the gravitational potential energy.
Leichtigkeit durch Fünf-Elemente-Ernährung
Authors: Fernkäse Uta 
Published: July 2019

SummaryDie Fünf-Elemente-Ernährung der TCM ordnet den Elementen - Holz, Feuer, Erde, Metall und Wasser - spezifische Geschmackseigenschaften und Nahrungsmittel zu. Im vorliegenden Fall führte der Lebensstil der Patientin zu Hypertonie, Stress und einer deutlichen Beeinträchtigung der Lebensqualität. Durch Reduktion von Brot, Milch(-Produkten), Kaffee und Süßem sowie einem höheren Anteil an gegartem Gemüse und erwärmten Mahlzeiten in Verbindung mit Bewegung konnte sie wieder Lebensfreude aufbauen und ihre Blutdruckwerte normalisieren.
Zuckerbremse Intervallfasten
Authors: Nebel Gudrun 
Published: July 2019

SummaryMit einer rasch wachsenden Zahl von aktuell rund sechs Millionen Betroffenen in Deutschland zählt Diabetes mellitus heute zu den großen Volkskrankheiten und häufigsten Todesursachen. Martin W. zeigte eine bislang unentdeckte, fortgeschrittene Typ-2-Form mit den typischen Ursachen: hochkalorische Ernährung, Übergewicht und Bewegungsmangel. Eine Kombination aus Intervallfasten, Bewegung, Mikronährstoffen und Flohsamen konnte die Zuckerwerte wieder in den Normbereich senken, das Gewicht deutlich reduzieren und die Einnahme von Antidiabetika abwenden.
Verschlingende Leere
Authors: Uta Bammel Psych 
Published: July 2019

SummaryBetroffene der Binge-Eating-Störung haben regelmäßige Essattacken, bei denen sie nicht selten innerhalb von kurzer Zeit bis zu 10 000 Kalorien zu sich nehmen. Wie bei allen anderen Formen der Essstörung sind meist psychische Konflikte die Ursache, hier häufig begleitet von einem nagenden Gefühl der inneren Leere. Wie das Fallbeispiel demonstriert, sollte die Psychotherapie mit einer Ernährungsberatung kombiniert werden, die Betroffenen hilft, physischen von emotionalem Hunger zu unterscheiden.