bluuebunny/crossref_metadata_2025_split huggingface dataset:
Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population
Authors: Han Jae Joon , Nguyen Pham Dinh , Oh Doo-Yi , Han Jin Hee , Kim Ah-Reum , Kim Min Young , Park Hye-Rim , Tran Lam Huyen , Dung Nguyen Huu , Koo Ja-Won , Lee Jun Ho , Oh Seung Ha , Anh Vu Hoang , Choi Byung Yoon 
Published: February 2019

AbstractThe mutational spectrum of deafness in Indochina Peninsula, including Vietnam, remains mostly undetermined. This significantly hampers the progress toward establishing an effective genetic screening method and early customized rehabilitation modalities for hearing loss. In this study, we evaluated the genetic profile of severe-to-profound hearing loss in a Vietnamese pediatric population using a hierarchical genetic analysis protocol that screened 11 known deafness-causing variants, followed by massively parallel sequencing targeting 129 deafness-associated genes. Eighty-seven children with isolated severe-to-profound non-syndromic hearing loss without family history were included. The overall molecular diagnostic yield was estimated to be 31.7%. The mutational spectrum for severe-to-profound non-syndromic hearing loss in our Vietnamese population was unique: The most prevalent variants resided in the MYO15A gene (7.2%), followed by GJB2 (6.9%), MYO7A (5.5%), SLC26A4 (4.6%), TMC1 (1.8%), ESPN (1.8%), POU3F4 (1.8%), MYH14 (1.8%), EYA1 (1.8%), and MR-RNR1 (1.1%). The unique spectrum of causative genes in the Vietnamese deaf population was similar to that in the southern Chinese deaf population. It is our hope that the mutation spectrum provided here could aid in establishing an efficient protocol for genetic analysis of severe-to-profound hearing loss and a customized screening kit for the Vietnamese population.
The effects of crossing ethnic boundaries on the autonomic nervous system in Muslim and Jewish young women in Israel
Authors: Saadi Diana , Agay-Shay Keren , Tirosh Emanuel , Schnell Izhak 
Published: February 2019

AbstractExposure to alien inter-group environments can differently effect ethnic groups’ autonomous nervous system, measured by heart rate variability (HRV). Our aim was to evaluate the effect of crossing alien ethnic boundaries on heart rate variability in three selected types of environments. In a field experiment study, we test responses of 72 Muslim and Jewish women to exposure to alien ethnic environments. We measured their HRV in intra and inter-ethnic parks, town centers and residential neighborhoods in Arab and Jewish adjacent towns. The subjects stayed half an hour in each environment. Mixed models were used to evaluate the effects. The results show that for both groups more favorable HRV measurements were demonstrated in intra-ethnic environments as compared to their HRV once crossing ethnic boundaries. The strongest effect in frequency domain (LF/HF) in response to ethnic boundary crossing was observed in the park for Muslims (β:0.65, 95%CI: 0.60–0.70) and for Jews (β: 0.60, 95%CI: 0.57–0.63). Following the eruption of the uprising, the most significant increase in LF/HF in response to ethnic boundary crossing was demonstrated in parks (β: 0.66, 95%CI: 0.60–0.71). In conclusion, both groups are effected by boundary crossing but there are ethnic differences in the autonomic nervous system balance and in response to crossing alien ethnic boundaries. A further study is needed to understand the causes of these differences.
Myosin Va interacts with the exosomal protein spermine synthase
Authors: Dolce Luciano G. , Silva-Junior Rui M. P. , Assis Leandro H. P. , Nascimento Andrey F. Z. , Araujo Jackeline S. , Meschede Ingrid P. , Espreafico Enilza M. , de Giuseppe Priscila O. , Murakami Mário T. 
Published: February 2019

Abstract
Myosin Va (MyoVa) is an actin-based molecular motor that plays key roles in the final stages of secretory pathways, including neurotransmitter release. Several studies have addressed how MyoVa coordinates the trafficking of secretory vesicles, but why this molecular motor is found in exosomes is still unclear. In this work, using a yeast two-hybrid screening system, we identified the direct interaction between the globular tail domain (GTD) of MyoVa and four protein components of exosomes: the WD repeat-containing protein 48 (WDR48), the cold shock domain-containing protein E1 (CSDE1), the tandem C2 domain-containing protein 1 (TC2N), and the enzyme spermine synthase (SMS). The interaction between the GTD of MyoVa and SMS was further validated in vitro and displayed a Kd in the low micromolar range (3.5 ± 0.5 µM). SMS localized together with MyoVa in cytoplasmic vesicles of breast cancer MCF-7 and neuroblastoma SH-SY5Y cell lines, known to produce exosomes. Moreover, MYO5A knockdown decreased the expression of SMS gene and rendered the distribution of SMS protein diffuse, supporting a role for MyoVa in SMS expression and targeting.
Matrine reduces cigarette smoke-induced airway neutrophilic inflammation by enhancing neutrophil apoptosis
Authors: Yu Xuhua , Seow Huei Jiunn , Wang Hao , Anthony Desiree , Bozinovski Steven , Lin Lin , Ye Ji-Ming , Vlahos Ross 
Published: February 2019

Abstract
Chronic Obstructive Pulmonary Disease (COPD) is a major incurable global health burden and will become the third largest cause of death in the world by 2030. It is well established that an exaggerated inflammatory and oxidative stress response to cigarette smoke (CS) leads to, emphysema, small airway fibrosis, mucus hypersecretion, and progressive airflow limitation. Current treatments have limited efficacy in inhibiting chronic inflammation and consequently do not reverse the pathology that initiates and drives the long-term progression of disease. In particular, there are no effective therapeutics that target neutrophilic inflammation in COPD, which is known to cause tissue damage by degranulation of a suite of proteolytic enzymes including neutrophil elastase (NE). Matrine, an alkaloid compound extracted from Sophora flavescens Ait, has well known anti-inflammatory activity. Therefore, the aim of the present study was to investigate whether matrine could inhibit CS-induced lung inflammation in mice. Matrine significantly reduced CS-induced bronchoalveolar lavage fluid (BALF) neutrophilia and NE activity in mice. The reduction in BALF neutrophils in CS-exposed mice by matrine was not due to reductions in pro-neutrophil cytokines/chemokines, but rather matrine’s ability to cause apoptosis of neutrophils, which we demonstrated ex vivo. Thus, our data suggest that matrine has anti-inflammatory actions that could be of therapeutic potential in treating CS-induced lung inflammation observed in COPD.
Simplified wrist‐worn heart rate sensor using microwave VCO
Authors: McFerran C. , McKernan A. , Buchanan N.B. 
Published: February 2019

This Letter presents a novel, wrist‐worn heart rate sensor, which is comprised of only a passive resonator and a voltage controlled oscillator (VCO). It is clearly demonstrated that valid heart rate data can be extracted off the DC bias circuit of the VCO, making this sensor one of the simplest of its kind ever reported. Experimental results are shown for successful measurements of the user's heart rate when the VCO was tuned to 2.42 GHz, with a DC bias voltage fluctuation of up to 10 mV representing the heart rate. These results are in agreement with those taken using a commercial optical sensor based heart monitor.
Effect of temperature on flow electrification under dc electrical field
Authors: Gao Yuan , Li Feng , Lu Wu , Zhao Wenbin 
Published: February 2019

An oil–pressboard insulation system has been built to simulate converter transformer turn‐to‐turn insulation structure. Streaming current in the oil was measured while applying high dc voltage on the insulation at different temperatures. Flow electrification was also researched at low flow velocity of 0.2 m/s and at high flow velocity of 1.2 m/s. The streaming current increases exponentially with temperature when the high dc voltage is not applied on the insulation. However, at the same temperature, the streaming current is much smaller than that with the dc voltage been applied. The streaming current is in an inverted U‐shaped development with the increase of temperature, when the insulation withstands the dc voltage. The peak value of the streaming current was observed at a lower temperature when the dc voltage is higher. A mathematic model has been developed to describe the electrification characteristics of insulation under the dc voltage.
Molekulargenetische Hochdurchsatzanalysen beim Urothelkarzinom – Möglichkeiten der klinischen Anwendung
Authors: Todenhöfer Tilman , Miernik Arkadiusz , Seiler Roland 
Published: February 2019

ZusammenfassungDie Anwendung von Hochdurchsatzanalysen zur Identifizierung von molekularen Veränderungen von Tumorgewebe hat zu einer signifikanten Verbesserung des Verständnisses von der Biologie des Urothelkarzinoms geführt. Unter anderem im Rahmen des Cancer Genome Atlas Projektes (TCGA) konnten anhand Veränderungen des Genexpressionsprofils molekulare Subtypen mit unterschiedlichem biologischem Verhalten identifiziert werden. Das im Rahmen dieser Analysen gewonnene Wissen könnte durch gezielte Anwendungen zu einer deutlichen Veränderung des klinischen Managements von Patienten mit Urothelkarzinomen führen. Erste Daten deuten darauf hin, dass die Bestimmung des molekularen Subtyps für die Entscheidung für oder wider eine neoadjuvante Chemotherapie sinnvoll sein könnte. Weiterhin werden in klinischen Prüfungen aktuell Substanzen untersucht, deren Effekt auf Tumoren mit bestimmten genetischen Veränderungen beschränkt zu sein scheint. Die Identifizierung von bestimmten Mutationen in zirkulierender Tumor-DNA durch liquid biopsies bietet nicht nur die Möglichkeit, metastasierte Tumoren ohne Entnahme einer Gewebebiopsie zu charakterisieren, sondern könnte auch für die Nachsorge von Patienten mit Urothelkarzinom gezielt eingesetzt werden.
Inklusive Forschung: Validierung der Skala zur Allgemeinen Selbstwirksamkeitserwartung (SWE) in Leichter Sprache an einer Stichprobe von Schülerinnen und Schülern mit sonderpädagogischem Förderbedarf
Authors: Berger Uwe , Fehlinger Meike , Mühleck Julia , Wick Katharina , Schwager Susanne 
Published: February 2019

Zusammenfassung
Hintergrund Etwa 7% der Schülerinnen und Schüler in Deutschland haben einen sonderpädagogischen Förderbedarf (SPF). Damit einher geht eine allgemein verringerte soziale Teilhabe, mitbedingt durch ein vermindertes Sprachverständnis. Zum Bestreben nach gesellschaftlicher Inklusion gehört daher die Bereitstellung von Text-Informationen in Leichter Sprache. Da in der sozialwissenschaftlichen und klinischen Forschung schriftliche Befragungen eine wichtige Rolle spielen, trifft dies auch auf psychometrische Fragebögen zu.
Fragestellung Vergleich der psychometrischen Güte der Original-Skala zur Allgemeinen Selbstwirksamkeitserwartung (SWE) mit einer in Leichte Sprache übersetzten Version (SWE-LS) der Skala.
Methode Parallele Anwendung der beiden Versionen der SWE bei N=94 Schülerinnen und Schülern im Alter zwischen 12 und 19 Jahren mit SPF aus 7 Förderschulen in Thüringen. Im Rahmen von Item-Analysen wurden die interne Konsistenz beider Skalen und die konvergente Validität gemessen.
Ergebnisse Beide Skalen-Versionen erreichten eine zufriedenstellende interne Konsistenz (SWE: α=0,74, SWE-LS: α=0,78). Die Skalenmittelwerte unterscheiden sich jedoch signifikant. Die konvergente Validität liegt bei r=0,69, wobei 3 Items nicht signifikant korrelieren (−0, 01<r>0,21). Der Anteil fehlender Werte ist bei der originalen SWE mit 16% auf Personenebene und 6,7% auf Itemebene signifikant höher als bei der SWE-LS mit 3,2 bzw. 0,5%.
Diskussion Insgesamt weist die in Leichte Sprache übersetzte SWE-LS eine bessere psychometrische Güte auf als die Originalskala. Auch der niedrigere Anteil fehlender Werte spricht für den Einsatz der SWE-LS.
Schlussfolgerungen Die Übersetzung standardisierter Fragebogen in Leichte Sprache bietet die Möglichkeit, auch Gruppen von Befragten in die Forschung mit einbeziehen, die bislang ausgeschlossen wurden bzw. nur indirekt (über Bezugs- oder Betreuungspersonen) befragt wurden. Der Aufwand für die Übersetzung ist vergleichbar mit der Übersetzung in andere Sprachen. Bei Leichter Sprache ist jedoch eine Rückübersetzung und damit eine Absicherung der inhaltlichen Validität nicht möglich.
Mindfulness and Skills Based Distress Reduction in Oncology: Das Webbasierte Psychoonkologische Make It Training
Authors: Ringwald Johanna , Gerstner Lena , Junne Florian , Ziser Katrin , Schäffeler Norbert , Wallwiener Markus , Hautzinger Martin , Bäuerle Alexander , Brucker Sara , Zipfel Stephan , Teufel Martin 
Published: February 2019

ZusammenfassungEine bedürfnisorientierte psychoonkologische Unterstützung für Frauen, die an Brustkrebs erkrankt sind, ist v. a. in strukturschwachen Gebieten nicht genügend vorhanden. Moderne telemedizinische und webbasierte Angebote (eHealth) können einen wichtigen Mehrwert in der psychoonkologischen Versorgung darstellen, da sie im Rahmen des Selbstmanagements unabhängig von personellen Ressourcen, Zeit und Ort verfügbar sind. Bisher fehlen solche supportive psychoonkologische Angebote weitestgehend im deutschsprachigen Raum. Aus diesem Grund wurde ein psychoonkologisches Online-Programm entwickelt. Inhalte für die zeitgemäße webbasierte, bedürfnisorientierte, psychoonkologische Intervention wurden aus Literatur und eigenen Vorstudien entwickelt. Ein Manual für ein Skills- und Achtsamkeitstraining (Make It Training- Mindfulness and skills based distress reduction training in oncology) im Websetting wurde entworfen, programmiert und elektronisch umgesetzt. Diese Intervention beinhaltet insgesamt acht krankheitsbezogene Sitzungen mit Lehrvideos, Audiodateien, interaktiven Arbeitsblättern, persönlicher Skillsbox sowie daraus entstehendem Abschlussmaterial nach jeder Sitzung. Die hier vorgestellten Bausteine zur Psychoedukation und Vermittlung von verhaltenstherapeutischen Skills zu den Themen Emotionsmanagement, Ressourcen, Stressmanagement und Selbstzuwendung, sowie ein fortlaufendes Achtsamkeitsmodul wurden entwickelt. Eine Akzeptanzüberprüfung (N=35) ergab hohe Werte für Akzeptanz und Zufriedenheit seitens der Patientinnen. 87% der Patientinnen würden anderen betroffenen Frauen das Make It Training weiterempfehlen. Mit dem Make It Training steht ein Programm zur Verfügung, das effektive Bewältigungsstrategien und Fertigkeiten im Umgang mit psychischen Belastungen und Anforderungen, die durch eine Krebserkrankung entstehen, vermittelt. Das webbasierte psychoonkologische Selbstmanagementprogramm kann die Versorgung in einem gestuften Ansatz nicht zuletzt in strukturschwachen Regionen für Patienten mit onkologischen Erkrankungen verbessern.
No Connection between Long-Term Lithium Treatment and Antithyroid Antibodies
Authors: Kraszewska Agnieszka , Ziemnicka Katarzyna , Sowiński Jerzy , Ferensztajn-Rochowiak Ewa , Rybakowski Janusz K. 
Published: February 2019

Abstract
Introduction The studies on the effect of lithium treatment on antithyroid antibodies showed either a higher concentration of these antibodies in patients receiving lithium compared to those lithium-naive or no difference between these groups. In lithium-treated bipolar patients, some researchers pointed to an association between antithyroid antibodies and other features of thyroid dysfunction such as hypothyroidism and decrease of glomerular filtration rate.
Methods We compared antithyroid antibodies in 98 patients (30 male, 68 female) with bipolar disorder, aged 62±13 years, who received lithium for 19±10 years to 39 patients (12 male, 27 female), aged 57±10 years, who were never treated with lithium. The antibodies against thyroid peroxidase (TPOAb), against thyroglobulin (TGAb), and thyroid-stimulating hormone (TSH) receptors (TSHRAb) were estimated.
Results No difference in the percentages of antibodies occurrence was found between groups, although the concentrations of TGAb were higher in patients receiving lithium. In lithium-treated patients, the presence of TPOAb was associated with lower concentrations of free triiodothyronine and the presence of TGAb, with higher concentrations of TSH. In females, the levels of TGAb were associated with lower thyroid volume. The concentrations of TPOAb correlated positively with the duration of lithium therapy in males, and those of TPOAb and TGAb negatively, with such duration, in female patients.
Conclusion The results obtained showed no significant connection between long-term lithium treatment and antithyroid antibodies. In bipolar patients receiving lithium longitudinally, antithyroid antibodies can be associated with some indexes of thyroid function. However, they behave differently in male and female patients.
Anterior Median Skull Base Reconstruction Using a Vascularized Free Flap: Rationale, Patient Selection and Outcome
Authors: Ungar Omer J. , Abergel Avraham , Safadi Ahmad , Zaretzki Arik , Yanko-Arzi Ravit , Fliss Dan M. 
Published: February 2019

Objectives To present our method of median anterior skull base (ASB) reconstruction using a subcranial approach with a free flap in cases of naso-fronto-orbital (NFO) bony segment failure and in patients at high risk for future failure of the bony frontal segment.
Design This study presents as a retrospective case series.
Setting Tertiary university-affiliated medical center.
Participants Adult and pediatric patients who underwent median ASB resection via the subcranial approach with a free flap reconstruction were participated in this study.
Main Outcome Measures Pathologic outcome and postoperative quality of life (QoL) as assessed by a validated Hebrew version of the “Anterior Skull Base Quality-of-Life Questionnaire.”
Results The departmental database yielded 13 suitable patients aged between 15 and 70 years. The main indication (n = 7) for ASB surgery was osteoradionecrosis (ORN) of the NFO bony segment which was first detected at an average of 3.6 years (range: 2–32 years) postradiation therapy. High-risk patients for future ORN of the NFO segment (n = 3) were primarily reconstructed using a vascularized free flap. Nine patients had malignant disease, and four of them were alive without evidence of disease during the follow-up period (average, 48 months). Their QoL was comparable to that of patients who had undergone subcranial ASB resection without free flap reconstruction.
Conclusions The ASB median free flap method of reconstruction is a safe and reliable in cases of large complex median ASB defects without orbital resection or maxillectomy. This approach is suitable for patients who had undergone previous surgery, radiotherapy and/or those who present with osteoradionecrosis, as well as for patients with high risk of NFO segment ORN.
Applying Fibrin Glue under Pleurography for Intractable Secondary Spontaneous Pneumothorax
Authors: Cho Jeong Su , Ahn Hyo Yeong , Kim Yeong Dae , I. Hoseok , Eom Jung Seop 
Published: February 2019

Background Prolonged air leakage is a problem that can frequently develop in patients with a secondary spontaneous pneumothorax (SSP) or in those who undergo thoracic surgery. However, the management of an air leak is difficult and reoperation might be avoided due to several reasons including adhesions. Herein, we introduce a fibrin glue application under pleurography (FGAP) and short-term outcomes in patients who underwent this procedure.
Methods FGAP was performed in 20 patients with an intractable persistent air leakage who had poor lung function, comorbidities to undergo general anesthesia and were expected severe adhesions due to previous surgery. All medical records were retrospectively reviewed.
Results Eighteen cases sealed soon after dropping the glue. One patient had a prolonged air leak for 12 days and another patient required an operation to control air leakage 16 days after the procedure. The mean duration of postoperative drainage was 4.17 ± 2.11 days (range: 3–14 days). No postprocedural complications were recorded. The mean duration of follow-up was 12.01 ± 5.02 months (range: 4–22 months).
Conclusion FGAP could be a treatment option to seal air leaks, especially in cases with intractable air leakage.
Obstetric Outcomes in Young Women with Breast Cancer: Prior, Postpartum, and Subsequent Pregnancies
Authors: Ma Kimberly K. , Preusse Courtney J. , Stevenson Philip A. , Winget Veronica L. , McDougall Jean A. , Li Christopher I. , Gadi Vijayakrishna K. , Gammill Hilary S. 
Published: February 2019

Objective This study aimed to describe obstetric outcomes in a large cohort of young women with breast cancer, considering the chronological relationship of pregnancies with breast cancer diagnosis.
Study Design From a population-based cohort study of young women with breast cancer from 2004 to 2010, we conducted secondary interviews to obtain detailed obstetric histories. Pregnancies were categorized based on timing of breast cancer diagnosis: prior, postpartum, and subsequent pregnancies after breast cancer diagnosis. A generalized estimated equation model was used to account for correlated data.
Results In this cohort (n = 366), median age at breast cancer diagnosis was 40.1 years, and 84.7% were Caucasian. Tumor type was notable for 25.1% triple negative, and 56.1% had Stage I disease. There were 922 prior pregnancies, 21 with postpartum diagnosis of breast cancer, and 24 pregnancies subsequent to breast cancer diagnosis. Non-live birth outcomes occurred significantly more often in the postpartum group (p-value: 0.001) compared with the other groups, which had higher live birth rates, after adjustment for maternal age, parity, body mass index, and race.
Conclusion Overall, pregnancy outcomes before and after breast cancer diagnosis are reassuring.
Rice used for Japanese sake making
Authors: Okuda Masaki 
Published: February 2019

ABSTRACTSake is a Japanese traditional alcoholic beverage made from rice and water. Recently, its export and its production in countries other than Japan have increased. In accordance, both the breeding and the cultivation of sake rice varieties have been extended to wide areas of Japan. To breed new sake rice cultivars and to cultivate rice with high suitability for sake production, an understanding of the properties of the ingredient rice grains and the factors affecting sake making is important. The influence of various rice properties, such as starch structure, protein, water absorption, and grain polishing, on sake making are being revealed in detail. In this review, the properties of rice used for sake making are summarized in terms of fermentation science and rice cultivation.
New xanthine oxidase inhibitors from the fruiting bodies of Tyromyces fissilis
Authors: Mitomo Shunsuke , Hirota Mitsuru , Fujita Tomoyuki 
Published: February 2019

ABSTRACT
Excessive uric acid production, which causes gout and hyperuricemia, can be blocked by inhibiting xanthine oxidase (XO). However, some agents to block on XO often cause side effects, thereby necessitating the identification of new inhibitors. During the screening of XO inhibitors from various mushroom extracts, we found that a methanolic extract of the fruiting bodies of Tyromyces fissilis, an inedible and non-toxic fungus, showed inhibitory activity. Both n-hexane and ethyl acetate layers, obtained by partitioning this extract exhibited XO inhibitory activity. Subsequently, using an activity-guided separation method, eight active compounds (1–8) were isolated. The structures of five of the new compounds, 2–4, 6, and 7, were elucidated by spectral analysis and chemical derivatization. All compounds had a salicylic acid moiety with an aliphatic group at the C-6 position. Notably, 2-hydroxy-6-pentadecylbenzoic acid (1) showed the highest level of XO noncompetitive inhibition (58.9 ± 2.2% at 25 µM).