bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel
Authors: Porntaveetus T , Srichomthong C , Ohazama A , Suphapeetiporn K , Shotelersuk V 
Published: March 2017

ObjectiveTo characterize clinical features and identify genetic causes of a patient with oculodentodigital dysplasia (ODDD).Subjects and methodsClinical, dental, radiological features were obtained. DNA was collected from an affected Thai family. Whole‐exome sequencing was employed to identify the disease‐causing mutation causing ODDD. The presence of the identified variant was confirmed by Sanger sequencing.ResultsThe proband suffered with extensive enamel hypoplasia, polysyndactyly and clinodactyly of the 3rd–5th fingers, microphthalmia, and unique facial characteristics of ODDD. Mutation analysis revealed a novel missense mutation, c. 31C>A, p.L11I, in the GJA1 gene which encodes gap junction channel protein connexin 43. Bioinformatics and structural modeling suggested the mutation to be pathogenic. The parents did not harbor the mutation.ConclusionsThis study identified a novel de novo mutation in the GJA1 gene associated with severe tooth defects. These results expand the mutation spectrum and understanding of pathologic dental phenotypes related to ODDD.
The role of dietary interventions in the prevention of IgE‐mediated food allergy in children
Authors: Du Toit George , Foong Ru‐Xin , Lack Gideon 
Published: March 2017

AbstractOver the last 30 years, the prevalence of food allergy has been on the rise and remains a disease that can have a significant impact on the quality of life of children and their families. There are several hypotheses that have been suggested to account for the increasing prevalence, but this review will focus on the impact that dietary factors have on food allergy development. In the past food allergy, prevalence has largely focused on allergen avoidance; however, there is increasing evidence from interventional studies that have shown that early introduction to potential food allergens may have a beneficial role in allergy prevention. This review aims to look at the evidence in support of early introduction of allergens into infant diets to prevent against the development of food allergy.
Health‐related quality of life among children with hereditary angioedema
Authors: Engel‐Yeger Batya , Farkas Henriette , Kivity Shmuel , Veszeli Nóra , Kőhalmi Kinga Viktória , Kessel Aharon 
Published: March 2017

AbstractBackgroundThe clinical expressions of hereditary angioedema with C1‐inhibitor deficiency (C1‐INH‐HAE) and its related burden may negatively affect patient quality of life. This study aimed to assess health‐related quality of life (HRQoL) in children with C1‐INH‐HAE.MethodsChildren (N = 98: 34 C1‐INH‐HAE patients, 64 healthy controls) aged 3–18 years were recruited in Israel and Hungary. All individuals completed a demographic questionnaire, a disease activity and site questionnaire, and the Pediatric Quality of Life Inventory (PedsQL™) 4.0 Generic Core Scales (child self‐report and maternal proxy report) to assess HRQoL.ResultsAmong C1‐INH‐HAE patients, nine (26.5%) had 1–5 attacks/year, six (17.6%) had 6–18 attacks/year, eight (23.5%) had 25–60 attacks/year, and 11 (32.4%) were asymptomatic over the previous year. Children with C1‐INH‐HAE attacks demonstrated lower HRQoL than healthy control children across the total score, school, and psychosocial dimensions of the PedsQL™. The number of C1‐INH‐HAE attacks negatively correlated with the total HRQoL score (r = −0.48, p = 0.008), school‐related HRQoL (r = −0.39, p = 0.02), and psychosocial HRQoL (r = −0.43, p = 0.01). Patients with multisite laryngeal, abdominal, and peripheral C1‐INH‐HAE attacks had a lower HRQoL compared with those who experienced solely peripheral attacks across the total score (p = 0.04), physical (p = 0.04), and school (p = 0.02) domains. There was no significant difference between asymptomatic C1‐INH‐HAE patients and healthy controls.ConclusionsChildren with symptomatic C1‐INH‐HAE demonstrate impaired HRQoL compared with healthy controls. HRQoL was affected by the frequency and site of C1‐INH‐HAE attacks and mostly in the school and physical domains.
Overexpression of Populus trichocarpa CYP85A3 promotes growth and biomass production in transgenic trees
Authors: Jin Yan‐Li , Tang Ren‐Jie , Wang Hai‐Hai , Jiang Chun‐Mei , Bao Yan , Yang Yang , Liang Mei‐Xia , Sun Zhen‐Cang , Kong Fan‐Jing , Li Bei , Zhang Hong‐Xia 
Published: March 2017

SummaryBrassinosteroids (BRs) are essential hormones that play crucial roles in plant growth, reproduction and response to abiotic and biotic stress. In Arabidopsis, AtCYP85A2 works as a bifunctional cytochrome P450 monooxygenase to catalyse the conversion of castasterone to brassinolide, a final rate‐limiting step in the BR‐biosynthetic pathway. Here, we report the functional characterizations of PtCYP85A3, one of the three AtCYP85A2 homologous genes from Populus trichocarpa. PtCYP85A3 shares the highest similarity with AtCYP85A2 and can rescue the retarded‐growth phenotype of the Arabidopsis cyp85a2‐2 and tomato dx mutants. Constitutive expression of PtCYP85A3, driven by the cauliflower mosaic virus 35S promoter, increased the endogenous BR levels and significantly promoted the growth and biomass production in both transgenic tomato and poplar. Compared to the wild type, plant height, shoot fresh weight and fruit yield increased 50%, 56% and 43%, respectively, in transgenic tomato plants. Similarly, plant height and stem diameter increased 15% and 25%, respectively, in transgenic poplar plants. Further study revealed that overexpression of PtCYP85A3 enhanced xylem formation without affecting the composition of cellulose and lignin, as well as the cell wall thickness in transgenic poplar. Our finding suggests that PtCYP85A3 could be used as a potential candidate gene for engineering fast‐growing trees with improved wood production.
Cardiac manifestations of inherited metabolic disease in children
Authors: Lloyd David FA , Vara Roshni , Mathur Sujeev 
Published: March 2017

AbstractInborn errors of metabolism (IEM) are responsible for around 5% of all cases of cardiomyopathy (CM) and for 15% of non‐idiopathic cases. Storage disorders such as Pompe disease (glycogen storage disease type II) typically cause hypertrophic CM, whereas the accumulation of toxic metabolites, as seen in the organic acidurias, is associated with dilated cardiomyopathy (DCM). Mixed pathology is also possible, particularly in late presentations. IEM such as Barth syndrome, a disorder of cardiolipin stability usually associated with DCM, have been associated with rarer types of CM such as endocardial fibroelastosis and left ventricular non‐compaction. Conduction disturbances can also occur, particularly in disorders of glycogen metabolism associated with PRKAG2 mutations. Cardiac screening of patients with metabolic diseases is important to guide treatment and stratify risk. Supportive cardiac treatment may be required, and although associated myocardial disease may improve or even resolve with correction of the underlying metabolic disturbance, progression to cardiac transplantation has been described. In this article we document all IEM known to be associated with cardiac disease in children, focusing on common and clinically important diagnoses. We also discuss the pathophysiology of the various types of CM, and present a recommended approach to screening in the pediatric population.
Vitamin D receptor polymorphisms in immune thrombocytopenic purpura
Authors: Yesil Sule , Tanyildiz Hikmet Gulsah , Tekgunduz Sibel Akpinar , Toprak Sule , Fettah Ali , Dikmen Asiye Ugras , Sahin Gurses 
Published: March 2017

AbstractBackgroundVitamin D receptor (VDR) polymorphisms have been studied in immune‐mediated disorders, but not yet in immune thrombocytopenic purpura (ITP). We investigated whether VDR variants were associated with ITP in children.MethodsThe study included 44 children with a diagnosis of ITP and 100 healthy controls. Five VDR polymorphisms (Cdx‐2, FokI, BsmI, ApaI and TaqI) were genotyped and used to evaluate the association of VDR variants with ITP.ResultsThe distribution of the three Cdx‐2 genotype groups (GG, GA, and AA) was significantly different between ITP patients and controls (P = 0.025); the homozygous GG genotype of Cdx‐2 was overrepresented in ITP patients. The frequency of the A allele of Cdx‐2 was significantly different between patients and controls (P = 0.01). The A allele of Cdx‐2 was associated with a decreased risk of ITP (OR, 0.343; 95% CI: 0.150–0.782). No statistically significant difference was found between the ITP group and control group for Fok1, Bsm1, Apa1, and Taq1 polymorphisms (P > 0.5).ConclusionThere appears to be an interaction between the Cdx‐2 variant of VDR and childhood immune thrombocytopenia.
Atypical features of benign rolandic epilepsy in Chinese children: Retrospective study
Authors: Zhao Xiuhe , Wang Aiqin , Wang Shengjun , Zhang Tongxia , Chi Zhaofu , Liu Yiming 
Published: March 2017

AbstractBackgroundBenign rolandic epilepsy (BRE) is one of the most common focal epilepsies in childhood, but less typical clinical presentations may lead to misdiagnosis and incorrect treatment. The focus of this study was therefore to retrospectively investigate the less typical features of BRE in Chinese children.MethodsData on 316 Chinese children with BRE were collected and analyzed.ResultsA total of 7.3% of children complained of tension, fear and terror at the onset of a seizure, and 5.4% had been misdiagnosed with mesial temporal lobe epilepsy. Approximately 12.3% had post‐ictal Todd's paresis, with 6.6% having been misdiagnosed and given incorrect treatment. Nineteen children (6%) had neuroradiologic abnormalities, which could lead to a diagnosis of symptomatic epilepsy. Twenty‐five patients (8.0%) had cognitive deficits.ConclusionsGreater recognition of, and further investigation into, the spectrum of BRE are needed.
The effect of lunisolar tidal acceleration on stem elongation growth, nutations and leaf movements in peppermint (Mentha × piperita L.)
Authors: Zajączkowska U. , Barlow P. W. 
Published: March 2017

Abstract

Orbital movement of the Moon generates a system of gravitational fields that periodically alter the gravitational force on Earth. This lunar tidal acceleration (Etide) is known to act as an external environmental factor affecting many growth and developmental phenomena in plants. Our study focused on the lunar tidal influence on stem elongation growth, nutations and leaf movements of peppermint.

Plants were continuously recorded with time‐lapse photography under constant illumination as well in constant illumination following 5 days of alternating dark–light cycles. Time courses of shoot movements were correlated with contemporaneous time courses of the Etide estimates. Optical microscopy and SEM were used in anatomical studies.

All plant shoot movements were synchronised with changes in the lunisolar acceleration. Using a periodogram, wavelet analysis and local correlation index, a convergence was found between the rhythms of lunisolar acceleration and the rhythms of shoot growth. Also observed were cyclical changes in the direction of rotation of stem apices when gravitational dynamics were at their greatest. After contrasting dark–light cycle experiments, nutational rhythms converged to an identical phase relationship with the Etide and almost immediately their renewed movements commenced. Amplitudes of leaf movements decreased during leaf growth up to the stage when the leaf was fully developed; the periodicity of leaf movements correlated with the Etide rhythms.

For the fist time, it was documented that lunisolar acceleration is an independent rhythmic environmental signal capable of influencing the dynamics of plant stem elongation. This phenomenon is synchronised with the known effects of Etide on nutations and leaf movements.
Resting state intrinsic EEG impacts on go stimulus‐response processes
Authors: Karamacoska Diana , Barry Robert J. , Steiner Genevieve Z. 
Published: March 2017

AbstractNeuropsychological research and practice rely on cognitive task performance measures as indicators of brain functioning. The neural activity underlying stimulus‐response processes can be assessed with ERPs, but the relations between these cognitive processes and the brain's intrinsic resting state EEG activity are less understood. This study focused on the neurocognitive functioning of 20 healthy young adults in an equiprobable go/no‐go task to map the ERP correlates of behavioral responses and examine contributions of the resting state intrinsic EEG to task‐related outcomes. Continuous EEG was recorded during pretask eyes‐closed (EC) and eyes‐open (EO) conditions, and in the subsequent task. Delta, theta, alpha, and beta band amplitudes were assessed for the EC state and also for the reactive change to EO. Go/no‐go ERPs were submitted to temporal principal components analysis, where the P2, N2, P3, and slow wave components of interest were extracted. The performance measure of reaction time (RT) variability was positively correlated with no‐go and go errors, and also with go P2 amplitude, linking these to stimulus discrimination efforts involved in appropriate response selection. An N2c‐P3b pairing was enhanced for shorter mean RTs, supporting their involvement in the decision to execute a response. A stepwise regression model identified EC midline delta as a predictor of P3b positivity, highlighting the relevance of delta in the neural mechanisms of attentional processes. These findings clarify the electrophysiology underlying decision‐making processes in executive function, and provide a platform for further research assessing performance outcomes in larger samples and in developmental/clinical contexts.
Sexual Assault on College Hookups: The Role of Alcohol and Acquaintances
Authors: Ford Jessie V. 
Published: March 2017

This article takes a new approach to the study of college sexual assault by conducting an analysis of female students’ most recent “hookup.” By isolating a particular hookup event and examining the features of that event, I am able to examine predictors of sexual assault during hookups. My analysis focuses on the implications of alcohol consumption and knowing a male partner before a hookup, while controlling for multiple individual, school, and situational characteristics, using data from the Online College Social Life Survey collected 2005–2011. In my sample, 2.4% of women experienced sexual assault during their most recent hookup. Results show women do not experience an increased risk of physically forced intercourse until they have consumed nine or more drinks. In addition, women were more likely to report sexual assault during a hookup with a man they did not know well. Together, these findings suggest that men are more likely to assault women who are drunk, possibly because the double standard has made them respect such women less, or because they target women who are likely unable to resist or recall what happened. It also appears that the “in‐network stranger” may be the individual most dangerous to women in college hookups.
Sustaining Farming on Marginal Land: Farmers’ Convictions, Motivations and Strategies in Northeastern Germany
Authors: Preissel Sara , Zander Peter , Knierim Andrea 
Published: March 2017

AbstractContrary to a scholarly debate that anticipated a trend towards the marginalisation of agriculture in many rural areas of Europe, farmers have continued to utilise agro‐economically marginal land, especially in a variety of areas in Europe's northwest. We explore why and how farmers secure the development of their farms while cultivating crops on the margins, based on qualitative empirical research in Brandenburg, Germany. By bringing together farmers’ motivations and convictions with their agricultural and agronomical practices, the study identifies three farming strategies for managing farms on marginal land, focused on independence, balancing multiple aims, or optimising land productivity. We develop a concept of farming strategy as an expression of personal motivations and convictions in a coherent, targeted, long‐term plan for farming. We discuss the implications of such an understanding for system‐oriented, micro‐sociological research and for the perpetuation of agriculture in marginalised rural areas.
Incidence and outcome of BK polyomavirus infection in a multicenter randomized controlled trial with renal transplant patients receiving cyclosporine‐, mycophenolate sodium‐, or everolimus‐based low‐dose immunosuppressive therapy
Authors: van Doesum Willem B. , Gard Lilli , Bemelman Frederike J. , de Fijter Johan W. , Homan van der Heide Jaap J. , Niesters Hubert G. , van Son Willem J. , Stegeman Coen A. , Groen Henk , Riezebos‐Brilman Annelies , Sanders Jan Stephan F. 
Published: March 2017

AbstractBackgroundIt remains unclear whether overall degree of immunosuppression or specific effects of individual immunosuppressive agents are causal for increased occurrence of BK polyomavirus (BKPyV) infection in renal transplant recipients (RTR).MethodsA prospective, multicenter, open‐label randomized controlled trial in 361 de novo RTR was performed. A total of 224 RTR were randomized at 6 months into three treatment groups with dual therapy consisting of prednisolone (Pred) plus either cyclosporine (CsA), mycophenolate sodium (MPS), or everolimus (EVL). Primary outcomes were incidence of BK viruria, BK viremia, and BKPyV‐associated nephropathy (BKVAN).ResultsFrom 6 months, incidence of BK viruria in the MPS group (43.6%) was significantly higher than in the other groups (CsA: 16.9%, EVL: 19.8%) (P=.003). BKVAN was diagnosed in 3 patients, all treated with MPS (7.8%, P=.001). Longitudinal data analysis showed a lower BKPyV load and a significantly faster clearance of BK viruria in the CsA group compared to the MPS group (P=.03).ConclusionsTreatment with MPS was associated with an increased incidence of BK viruria. Dual immunosuppressive therapy with CsA and Pred was associated with the lowest rate of BKPyV replication and the fastest clearance of the virus.
Concomitant loss of NDH complex‐related genes within chloroplast and nuclear genomes in some orchids
Authors: Lin Choun‐Sea , Chen Jeremy J. W. , Chiu Chi‐Chou , Hsiao Han C. W. , Yang Chen‐Jui , Jin Xiao‐Hua , Leebens‐Mack James , de Pamphilis Claude W. , Huang Yao‐Ting , Yang Ling‐Hung , Chang Wan‐Jung , Kui Ling , Wong Gane Ka‐Shu , Hu Jer‐Ming , Wang Wen , Shih Ming‐Che 
Published: March 2017

SummaryThe chloroplast NAD(P)H dehydrogenase‐like (NDH) complex consists of about 30 subunits from both the nuclear and chloroplast genomes and is ubiquitous across most land plants. In some orchids, such as Phalaenopsis equestris, Dendrobium officinale and Dendrobium catenatum, most of the 11 chloroplast genome‐encoded ndh genes (cp‐ndh) have been lost. Here we investigated whether functional cp‐ndh genes have been completely lost in these orchids or whether they have been transferred and retained in the nuclear genome. Further, we assessed whether both cp‐ndh genes and nucleus‐encoded NDH‐related genes can be lost, resulting in the absence of the NDH complex. Comparative analyses of the genome of Apostasia odorata, an orchid species with a complete complement of cp‐ndh genes which represents the sister lineage to all other orchids, and three published orchid genome sequences for P. equestris, D. officinale and D. catenatum, which are all missing cp‐ndh genes, indicated that copies of cp‐ndh genes are not present in any of these four nuclear genomes. This observation suggests that the NDH complex is not necessary for some plants. Comparative genomic/transcriptomic analyses of currently available plastid genome sequences and nuclear transcriptome data showed that 47 out of 660 photoautotrophic plants and all the heterotrophic plants are missing plastid‐encoded cp‐ndh genes and exhibit no evidence for maintenance of a functional NDH complex. Our data indicate that the NDH complex can be lost in photoautotrophic plant species. Further, the loss of the NDH complex may increase the probability of transition from a photoautotrophic to a heterotrophic life history.
Identification of a drimenol synthase and drimenol oxidase from Persicaria hydropiper, involved in the biosynthesis of insect deterrent drimanes
Authors: Henquet Maurice G. L. , Prota Neli , van der Hooft Justin J. J. , Varbanova‐Herde Marina , Hulzink Raymond J. M. , de Vos Martin , Prins Marcel , de Both Michiel T. J. , Franssen Maurice C. R. , Bouwmeester Harro , Jongsma Maarten 
Published: March 2017

SummaryThe sesquiterpenoid polygodial, which belongs to the drimane family, has been shown to be an antifeedant for a number of herbivorous insects. It is presumed to be synthesized from farnesyl diphosphate via drimenol, subsequent C‐12 hydroxylation and further oxidations at both C‐11 and C‐12 to form a dialdehyde. Here, we have identified a drimenol synthase (PhDS) and a cytochrome P450 drimenol oxidase (PhDOX1) from Persicaria hydropiper. Expression of PhDS in yeast and plants resulted in production of drimenol alone. Co‐expression of PhDS with PhDOX1 in yeast yielded drimendiol, the 12‐hydroxylation product of drimenol, as a major product, and cinnamolide. When PhDS and PhDOX1 were transiently expressed by agro‐infiltration in Nicotiana benthamiana leaves, drimenol was almost completely converted into cinnamolide and several additional drimenol derivatives were observed. In vitro assays showed that PhDOX1 only catalyses the conversion from drimenol to drimendiol, and not the further oxidation into an aldehyde. In yeast and heterologous plant hosts, the C‐12 position of drimendiol is therefore likely to be further oxidized by endogenous enzymes into an aldehyde and subsequently converted to cinnamolide, presumably by spontaneous hemiacetal formation with the C‐11 hydroxyl group followed by oxidation. Purified cinnamolide was confirmed by NMR and shown to be deterrent with an effective deterrent dose (ED50) of about 200–400 μg g−1 fresh weight against both whiteflies and aphids. The putative additional physiological and biochemical requirements for polygodial biosynthesis and stable storage in plant tissues are discussed.