bluuebunny/crossref_metadata_2025_split huggingface dataset:
ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis
Authors: Fujisawa Chie , Kodama Hiroko , Hiroki Tomoko , Akasaka Yoshikiyo , Hamanoue Makoto 
Published: February 2019

AbstractBackgroundMenkes disease (MNK; MIN 309400) is an X‐linked recessive lethal disorder of copper metabolism caused by mutations in ATP7A (MIM 300011), which encodes a transmembrane copper‐transporting P‐type ATPase. This study assessed mutations in ATP7A in Japanese patients with MNK and their families using gene analysis.MethodsA total of 66 patients with MNK born between 1975 and 2013 in Japan were investigated in this study. Definite diagnosis of MNK was carried out on polymerase chain reaction (PCR) amplification and direct sequencing of each exon. Genetic analysis was also performed on 39 women for carrier diagnosis, and on nine fetuses and 10 neonates for the diagnosis of MNK.ResultsWe detected 55 different mutations, of which 20 were de novo mutations. The mutations were located around the six copper binding sites, first to third and six transmembrane domains, and the ATP binding site. Of 30 mothers, 23 (76.7%) were carriers. Approximately half of the male siblings of patients with MNK were also diagnosed with MNK.ConclusionMutations in ATP7A varied widely across patients, although approximately half of the mutations were located in exons 4, 9, 10, and 15. Approximately 23% of patients did not inherit the mutations from their mothers, but had de novo mutations. An early definite diagnosis is necessary for the early treatment of MNK, and gene analysis serves as an effective method for detecting mutations in ATP7A.
Visual scales are superior to questionnaires in skin phototype self‐assessment by children
Authors: Bieliauskiene Giedre , Philipsen Peter A. , Ørsted‐Jordy Laura , Køster Brian , Wulf Hans Christian 
Published: February 2019

SummaryBackground/PurposeThere are no suitable methods for skin phototype self‐assessment by children. Our study investigated several skin phototype self‐assessment methods in children to identify the best correlation to objectively measure skin phototype.MethodsDanish schoolchildren (ages 6‐19) participated in a nation‐wide study that assessed skin, eye, hair colour and sun behaviour. Skin phototype self‐assessment was performed by children using two visual colour scales (cartoon faces and colour cards), question‐based colour scale and questions about tendency to burn and ability to tan. For objective skin phototype measurements, 483 children from all age groups were selected and their pigment protection factor (PPF) was measured at three skin sites using a skin reflectance spectrophotometer.ResultsCartoon faces (r2 = 0.654) and colour cards (r2 = 0.659) were better at predicting PPF on the inner forearm than the question‐based colour method (r2 = 0.520). PPF prediction from questions on skin reaction to sun exposure was markedly inferior (r2 ≤ 0.142) to both visual colour scales and question‐based colour method.ConclusionBoth visual colour scales proved to be superior to question‐based skin phototype self‐assessment in schoolchildren. In contrast, questions on skin reaction to sun exposure were shown to be an unsuitable tool for self‐assessment of skin phototype in children.
What influences self‐perceived competence and confidence in dementia care home staff? A systematic review
Authors: Rivett Emma , Hammond Laura , West Juniper 
Published: February 2019

BackgroundDementia care staff working in long‐term care settings are often exposed to a variety of complex situations that can be emotionally challenging, and a lack of adequate support and limited training opportunities may contribute to high levels of staff turnover in this area. Good‐quality training may be beneficial for improving the quality of care provided, and in improving staff confidence and morale. This systematic review aimed to establish how dementia care home staff perceived their own competence and confidence in relation to the care they deliver, whether there are any specific interventions that improve these feelings, and whether feeling more competent and confident impacts on care delivery.MethodA search of the literature focusing on staff perceptions of competence and confidence identified 14 873 studies. Following the removal of duplicates and papers that did not meet the inclusion criteria, 19 studies were included in the review and subject to quality assessment.ResultsStudies varied in terms of quality and design, and were categorised as either intervention or non‐intervention studies. Four studies found a significant increase in feelings of competence and confidence following intervention, although many studies did not statistically analyze their data. The most successful interventions seemed to be those that involved practical support alongside education, and non‐intervention studies highlighted the importance of specific dementia and palliative care training with regard to feelings of competence and confidence.ConclusionTeaching alone may not be an adequate method of training dementia care staff, and the most successful interventions were those where practical support was also provided. Most studies suggested that improvements in competence and confidence also had benefits for care delivery and staff wellbeing. More research needs to be done using validated outcome measures and with competence and confidence as the primary aim.
Clinical characteristics of elderly depressive patients with low metaiodobenzylguanidine uptake
Authors: Takenoshita Shintaro , Terada Seishi , Oshima Etsuko , Yamaguchi Megumi , Hayashi Satoshi , Hinotsu Kenji , Esumi Satoru , Shinya Takayoshi , Yamada Norihito 
Published: February 2019

BackgroundRecently, depression with Lewy body pathology before the appearance of parkinsonism and cognitive dysfunction has been drawing attention. Low cardiac metaiodobenzylguanidine (MIBG) uptake is helpful for early differentiation of Lewy body disease (LBD) from late‐onset psychiatric disorders even before parkinsonism or dementia appears. In this study, we used MIBG uptake as a tool in suspected LBD, and evaluated the relationship of MIBG results to clinical characteristics and depressive symptoms.MethodsFifty‐two elderly inpatients with depression were included in this study. The Hamilton Depression Rating Scale (HDRS) was administered at admission, and 123I‐MIBG cardiac scintigraphy was performed. Of 52 patients, 38 had normal and 14 had reduced MIBG uptake.ResultsCorrelation analyses of the late phase heart‐to‐mediastinum (H/M) ratio on the MIBG test and each item of the HDRS revealed that the H/M ratio was significantly correlated with scores of ‘agitation’, ‘anxiety‐somatic’, and ‘retardation’ on the HDRS. Mean HDRS composite scores of ‘somatic and psychic anxiety (Marcos)’ and ‘somatic anxiety/somatization factor (Pancheri)’ were higher in the low uptake group than in the normal uptake group.ConclusionElderly patients with depression who manifested an obvious somatic anxiety tend to show low MIBG uptake, and are more likely to have Lewy body pathology.
Are mule pregnancies really longer than equine pregnancies? Comparison between mule and equine pregnancies
Authors: Boakari Yatta Linhares , Alonso Maria Augusta , Riccio Amanda Vallone , Fernandes Claudia Barbosa 
Published: February 2019

ContentsIn equine management, it is important to predict the approximate foaling date of mares to monitor parturition and allow early identification and intervention of problems during the perinatal period. There are no studies comparing accurate gestational length (GL) when mares are carrying mule foals and no controlled comparisons between GL of mares pregnant with equine or mule foals. Therefore, the objectives of this study were to compare GL of mares pregnant with equine or mule foals and establish normal reference values for GL of mares pregnant with male and female mules. Gestational length of Mangalarga Paulista breed mares pregnant with equine (n = 54) or with mule (n = 54) foals during the breeding seasons of 2007 to 2016 was evaluated. The mean GL was 347.2 ± 1.4 days (range of 326–368 days) and 341.1 ± 1.6 days (range of 307–360 days) for equine and mule pregnancies, respectively. The normal GL reference for mule pregnancies was 316.9–365.3 days. Therefore, GL of equine pregnancies was longer than of mule pregnancies. Gestational length was not different when pregnancies resulted in females or males within each group. This study established an important reference value for normal GL of mule pregnancies, which can be used by practitioners to estimate and predict foaling dates more accurately.
Time‐change models for asymmetric processes
Authors: Ailliot Pierre , Delyon Bernard , Monbet Valérie , Prevosto Marc 
Published: February 2019

AbstractMany records in environmental sciences exhibit asymmetric trajectories. The physical mechanisms behind these records may lead for example to sample paths with different characteristics at high and low levels (up–down asymmetries) or in the ascending and descending phases leading to time irreversibility (front–back asymmetries). Such features are important for many applications, and there is a need for simple and tractable models that can reproduce them. In this paper, we explore original time‐change models where the clock is a stochastic process that depends on the observed trajectory. The ergodicity of the proposed model is established under general conditions, and this result is used to develop nonparametric estimation procedures based on the joint distribution of the process and its derivative. The methodology is illustrated on meteorological and oceanographic data sets. We show that, combined with a marginal transformation, the proposed methodology is able to reproduce important characteristics of the data set such as marginal distributions, up‐crossing intensity, and up–down and front–back asymmetries.
Detection of clusters in traffic networks based on spatio‐temporal flow modeling
Authors: Shi Yan , Deng Min , Gong Jianya , Lu Chang‐Tien , Yang Xuexi , Liu Huimin 
Published: February 2019

AbstractSpatio‐temporal clustering is a highly active research topic and a challenging issue in spatio‐temporal data mining. Many spatio‐temporal clustering methods have been designed for geo‐referenced time series. Under some special circumstances, such as monitoring traffic flow on roads, existing methods cannot handle the temporally dynamic and spatially heterogeneous correlations among road segments when detecting clusters. Therefore, this article develops a spatio‐temporal flow‐based approach to detect clusters in traffic networks. First, a spatio‐temporal flow process is modeled by combining network topology relations with real‐time traffic status. On this basis, spatio‐temporal neighborhoods are captured by considering traffic time‐series similarity in spatio‐temporal flows. Spatio‐temporal clusters are further formed by successive connection of spatio‐temporal neighbors. Experiments on traffic time series of central London's road network on both weekdays and weekends are performed to demonstrate the effectiveness and practicality of the proposed method.
MDA1, a nucleus‐encoded factor involved in the stabilization and processing of the atpA transcript in the chloroplast of Chlamydomonas
Authors: Viola Stefania , Cavaiuolo Marina , Drapier Dominique , Eberhard Stephan , Vallon Olivier , Wollman Francis‐André , Choquet Yves 
Published: February 2019

SummaryIn Chlamydomonas reinhardtii, chloroplast gene expression is tightly regulated post‐transcriptionally by gene‐specific trans‐acting protein factors. Here, we report the molecular identification of an OctotricoPeptide Repeat (OPR) protein, MDA1, which governs the maturation and accumulation of the atpA transcript, encoding subunit α of the chloroplast ATP synthase. As does TDA1, another OPR protein required for the translation of the atpA mRNA, MDA1 targets the atpA 5’‐untranslated region (UTR). Unexpectedly, it binds within a region of approximately 100 nt in the middle of the atpA 5’‐UTR, at variance with the stabilization factors characterized so far, which bind to the 5’‐end of their target mRNA to protect it from 5’ → 3’ exonucleases. It binds the same region as TDA1, with which it forms a high‐molecular‐weight complex that also comprises the atpA mRNA. This complex dissociates upon translation, promoting degradation of the atpA mRNA. We suggest that atpA transcripts, once translated, enter the degradation pathway because they cannot reassemble with MDA1 and TDA1, which preferentially bind to de novo transcribed mRNAs.
Greater infarct growth limiting effect of mechanical thrombectomy in stroke patients with poor collaterals
Authors: Renú Arturo , Laredo Carlos , Montejo Carmen , Zhao Yashu , Rudilosso Salvatore , Macias Napoleon , Llull Laura , Zarco Federico , Amaro Sergio , Werner Mariano , Obach Victor , Macho Juan , Chamorro Angel , Urra Xabier 
Published: February 2019

ObjectiveStroke patients with good collateral circulation achieve the best recovery after mechanical thrombectomy (MT) but strict imaging selection may result in untreated patients that could benefit from MT. We assessed whether the extent of collaterals had modifying effects on the amount of ischemic tissue saved from infarction with MT over best medical treatment (BMT).MethodsThis was a single center cohort of consecutive patients (n=339) with proximal occlusions in the carotid territory. Patients were categorized according to a four point category scale on CT angiography as having good (scores 2–3) or poor (scores 0–1) collaterals. The primary outcome measure was the interaction between collaterals and MT on infarct growth. The secondary outcome assessed the treatment effect of MT over BMT on functional status in relation to collateral status. Safety outcomes were mortality and symptomatic intracranial hemorrhage.ResultsCollaterals had a modifying effect of MT on infarct growth (P=0.004), with a greater reduction in 96 patients with poor collaterals (38.8 mL) than in 243 patients with good collaterals (1.9 mL). There was also a significant (P<0.001) interaction between the effect of MT and functional outcome in relation to collateral status, with more benefits of MT in patients with poor collaterals. MT was associated with lower mortality than BMT in patients with poor collaterals only.ConclusionCompared with BMT, the use of MT in the early time window in large vessel stroke results in a more substantial limitation of infarct growth in patients with poor collaterals.
Distinct interferon signatures stratify inflammatory and dysimmune myopathies
Authors: Rigolet Muriel , Hou Cyrielle , Baba Amer Yasmine , Aouizerate Jessie , Periou Baptiste , Gherardi Romain K , Lafuste Peggy , Authier François Jérôme 
Published: February 2019

ObjectiveThe role of interferons (IFN) in the pathophysiology of primary inflammatory and dysimmune myopathies (IDM) is increasingly investigated, notably because specific neutralisation approaches may constitute promising therapeutic tracks. In present work we analysed the muscular expression of specific IFNα/β and IFNγ-stimulated genes in patients with various types of IDM.Methods39 patients with IDM with inclusion body myositis (IBM, n=9), dermatomyositis (DM, n=10), necrotising autoimmune myopathies (NAM, n=10) and antisynthetase myositis (ASM, n=10), and 10 controls were included. Quantification of expression levels of IFNγ, ISG15, an IFNα/β-inducible gene and of six IFNγ-inducible genes (GBP2, HLA-DOB, HLA-DPB, CIITA, HLA-DRB and HLA-DMB) was performed on muscle biopsy samples.ResultsDM usually associated with strong type I IFNα/β signature, IBM and ASM with prominent type II IFNγ signature and NAM with neither type I nor type II IFN signature. Immunofluorescence study in ASM and IBM showed myofibre expression of major histocompatibility class 2 (MHC-2) and CIITA, confirming the induction of the IFNγ pathway. Furthermore, MHC-2-positive myofibres were observed in close proximity to CD8+ T cells which produce high levels of IFNγ.ConclusionDistinct IFN signatures allow a more distinct segregation of IDMs and myofibre MHC-2 expression is a reliable biomarker of type II IFN signature.
Strength of Fibroblast Growth Factor 23 as a Cardiovascular Risk Predictor in Chronic Kidney Disease Weaken by ProBNP Adjustment
Authors: Emrich Insa E. , Brandenburg Vincent , Sellier Alexander B. , Schauerte Johanna , Wiedenroth Johanna , Untersteller Kathrin , Lennartz Claudia S. , Seiler-Mussler Sarah , Wagenpfeil Stefan , Fliser Danilo , Heine Gunnar H. 
Published: February 2019

<b><i>Background:</i></b> Various epidemiological studies linked high fibroblast growth factor 23 (FGF23) levels with cardiovascular events in chronic kidney disease (CKD). It remains enigmatic whether high FGF23 exerts adverse cardiovascular effects, or whether it reflects detrimental effects of residual confounders. Earlier studies adjusted for CKD-mineral bone disease (CKD-MBD) regulators of FGF23 rather than for recently discovered non-CKD-MBD regulators, among which iron deficiency and heart failure are of particular importance. Moreover, they used c-terminal FGF23 (cFGF23) assays rather than more specific intact FGF23 (iFGF23) assays. <b><i>Methods:</i></b> The <i>CARE FOR HOMe</i> study analyzed plasma ferritin, iFGF23, cFGF23 and N-terminal proBNP (NT-proBNP) along with conventional risk factors, among 575 CKD G2-G4 patients to determine the interaction between FGF23, its non-CKD-MBD regulators, and incident cardiovascular events in CKD patients. The participants were followed up for 5.1 ± 2.1 years for the occurrence of atherosclerotic events and hospitalization for acute decompensated heart failure. <b><i>Results:</i></b> cFGF23 correlated strongly with high iFGF23 (<i>r</i> = 0.607), fairly with high NT-proBNP (<i>r</i> = 0.453) and weakly with low ferritin (<i>r</i> = –0.207); correlation coefficients of iFGF23 with NT-proBNP and ferritin were numerically lower. In Kaplan-Meier analyses, both endpoints were predicted by cFGF23 and iFGF23. In Cox regression models, cFGF23 remained an outcome predictor after adjustment for conventional risk factors and ferritin. This prediction was largely eliminated when further adjusting for NT-proBNP. iFGF23 was less consistently associated with adverse outcome in partly adjusted models, and failed to predict outcome in fully adjusted models. <b><i>Conclusion:</i></b> In summary, iron deficiency and heart failure affect plasma FGF23. As adjustment for NT-proBNP virtually eliminates the association between plasma FGF23 and predefined outcome, we speculate that high FGF23, rather than exerting detrimental cardiovascular effects, mirrors prevalent heart disease.
ДОСЛІДЖЕННЯ МОРФОЛОГО-АНАТОМІЧНИХ ОЗНАК ТРАВИ AJUGA REPTANS L.
Authors: Maliuvanchuk S. V. , Grytsyk A. R. , Melnik M. V. 
Published: February 2019

Вступ. Актуальним завданням сучасної фармації є продовження досліджень лікарської рослинної сировини, яка має багатовіковий досвід використання. Перспективними для фітотерапії об’єктами є представники роду Горлянка, які традиційно застосовують у науковій та народній медицині багатьох країн при захворюваннях шлунка, сечокам’яній хворобі, отитах, стоматитах, жовчнокам’яній хворобі, запаленні придатків матки, а також як протималярійний засіб та як засіб, що поліпшує обмін речовин. У зв’язку із цим, особливий інтерес викликає вид, склад якого характеризується високим вмістом біологічно активних сполук, що зумовлюють протизапальну, кровоспинну й антиоксидантну дії горлянки повзучої (Аjuga reptans L.). Рослини роду Горлянка, що ростуть на території України, досліджено недостатньо. Перспективним є вивчення спільних та відмінних морфолого-анатомічних діагностичних ознак будови рослинної сировини досліджуваного виду роду Ajuga R. флори України.
Мета дослідження – встановити морфолого-анатомічні ознаки горлянки повзучої трави для виділення діагностичних ознак.
Методи дослідження. Для досліджень використовували повітряно-суху та свіжозібрану і фіксовану в суміші гліцерин – етанол – вода (1:1:1) рослинну сировину. Дослідження проводили загальновідомими методами із застосуванням мікроскопів ЛОМО Р-1 (Росія) та REICHERT L.4 (Австрія). Отримані дані фіксували за допомогою схематичних рисунків та фотографій, зроблених фотокамерою Canon A 720 IS.
Результати й обговорення. У результаті проведеного макро- та мікроскопічного аналізу встановлено діагностичні ознаки горлянки повзучої трави.
Висновки. Методом макроскопічного аналізу було досліджено зовнішні ознаки сировини горлянки повзучої і встановлено анатомічні діагностичні ознаки листків трави цієї рослини. Також методом мікроскопічного аналізу виявлено слабозвивисті клітини верхнього епідермісу і звивистостінні клітини нижнього епідермісу, діацитний тип продихового апарату; прості волоски; ефіроолійні залозки з великими голівками із 6–8 епітеліальних клітин. Перспективним є використання встановлених основних морфолого-анатомічних діагностичних ознак горлянки повзучої трави для розробки проекту методів контролю якості лікарської рослинної сировини.
EFFECTS OF MELATONIN ON OXIDANT AND ANTIOXIDANT STATUSIN THE BLOOD OF ALLOXAN DIABETIC RATS
Authors: Luhinich N. M. , Gerush I. V. , Grygorieva N. P. 
Published: February 2019

Introduction. The experimental model of alloxane diabetes is quite common, which is often used to study the different aspects of pathogenesis and pathomorphology of diabetes. It is known that during the diabetes activation of free radical oxidation of biomolecules occurs as well as depletion of the antioxidant system. Melatonin can suppress reactive oxygen species and increases the activity of antioxidant enzymes.
The aim of the study – to investigate the effect of melatonin on oxidant and antioxidant status in the blood of alloxan diabetic rats.
Research Methods. Experiments were conducted on white outbred sexually mature male rats. In the blood plasma was determined content of oxidatively modified proteins, the ceruloplasmin activity; in the hemolisate of erythrocytes was determined content of TBA-reactive products, the measurement of superoxide dismutase (SOD) and catalase activities.
Results and Discussion. The results of our studies showed that under conditions of alloxane diabetes, processes of free radical damage to biomolecules are intensified, as evidenced by the increase in the content of TBA-active products and oxidatively modified proteins in the blood of rats on 7 and 14 days of alloxane diabetes. The activity of catalase and ceruloplasmin in the blood of alloxan diabetic rats was lower than in the control group of animals but the SOD activity was significantly increased. The positive effect of melatonin is shown on 7 and 14 days and decrease the content of TBA-active products and oxidatively modified proteins blood of rats compared with untreated animals. Also, the administration of melatonin contributed to the normalization of the activity antioxidant enzymes of blood in rats with alloxane diabetes: increase of catalase activity in erythrocytes, ceruloplasmin activity and decrease SOD activity compared with untreated animals.
Conclusions. The introduction of exogenous melatonin in rats with alloxane diabetes in a dose of 10 mg/kg daily for 7 and 14 days cause a pronounced antioxidant effect, reducing free radical oxidation and normalizing the activity of enzymes of antioxidant defense in the blood alloxan diabetic rats.