bluuebunny/crossref_metadata_2025_split huggingface dataset:
Impact of a Dietary Supplement Containing 1,3-Dimethylamylamine on Blood Pressure and Bloodborne Markers of Health: A 10-Week Intervention Study
Authors: Whitehead Paul N. , Schilling Brian K. , Farney Tyler M. , Bloomer Richard J. 
Published: February 2012

Background 1,3-dimethylamylamine is a commonly used ingredient within dietary supplements. Our prior work with this agent indicates a transient increase in blood pressure (systolic in particular) following oral ingestion of a single dosage, but no significant increase in resting blood pressure following chronic ingestion. Moreover, intervention studies involving both two and eight weeks of treatment with finished products containing 1,3-dimethylamylamine indicate minimal or no change in bloodborne markers of health. The present study sought to extend these findings by using a 10 -week intervention trial to determine the change in selected markers of health in a sample of men. Methods 25 healthy men were randomly assigned to either a placebo (n = 13) or to a supplement containing 1,3-dimethylamylamine (n = 12) for a period of 10 weeks. Before and after the intervention, resting blood pressure and heart rate were measured, and blood samples were collected for determination of complete blood count, metabolic panel, and lipid panel. Results No significant differences were noted between conditions for blood pressure ( P > 0.05), although systolic blood pressure increased approximately 6 mmHg with the supplement (diastolic blood pressure decreased approximately 4 mmHg). A main effect for time was noted for heart rate ( P = 0.016), with values decreasing from pre to post intervention. There were significant main effects for time for creatinine (increased from pre to post intervention; P = 0.043) and alkaline phosphatase (decreased from pre to post intervention; P = 0.009), with no condition differences noted ( P > 0.05). There was a significant interaction noted for low density lipoprotein cholesterol (LDL-C) ( P = 0.043), with values decreasing in the supplement group from pre to post intervention approximately 7 mg · dL-1 ( P = 0.034). No other effects of significance were noted for bloodborne variables. Conclusion These data indicate that a dietary supplement containing 1,3-dimethylamylamine does not result in a statistically significant increase in resting heart rate or blood pressure (although systolic blood pressure is increased ~6 mmHg with supplement use). The supplement does not negatively impact bloodborne markers of health. Further study is needed involving a longer intervention period, a larger sample size, and additional measures of health and safety.
Characterization and Chondrogenic Differentiation of Menstrual Blood-Derived Stem Cells on a Nanofibrous Scaffold
Authors: Kazemnejad Somaieh , Akhondi Mohammad-Mehdi , Soleimani Masoud , Zarnani Amir Hassan , Khanmohammadi Manijeh , Darzi Saeedeh , Alimoghadam Kamran 
Published: February 2012

Introduction The recent identification of menstrual blood-derived stem cells (MenSCs) as a unique population of stem cells has created enormous promise for tissue engineering. In this study, after characterization of MenSCs in comparison with bone marrow-derived stem cells (BMSCs), the potential of MenSCs seeded into electrospun, biodegradable, nanofibrous scaffolds in order to engineer cartilage was evaluated. Methods MenSCs and BMSCs were isolated by discontinuous density gradient centrifugation and plastic adherence. After characterization of MenSCs compared with BMSCs, MenSC differentiation into chondrocytes was investigated on a nanofibrous scaffold with specific growth and differentiation factors. The scaffold was prepared from polycaprolactone (PCL) and its surface was modified by plasma treatment. Results Flow cytometric analysis of expanded cells showed that MenSCs typically express some surface and intracellular markers associated with BMSCs. But marked expression of OCT-4 and the absence of STRO1 distinguished them from mesenchymal stem cells obtained from bone marrow. Based on scanning electron microscope images, the MenSCs were strongly anchored to the highly porous scaffold, which they penetrated and proliferated on. The scaffold contained an extensive cartilage-like extracellular matrix with about 50% greater glycosaminoglycan content than control MenSCs differentiated in a two-dimensional (2D) culture system (p<0.05). Considerable amounts of proteoglycan were produced by the cells differentiated on the scaffold, as demonstrated by Alcian blue staining. Unlike undifferentiated MenSCs, cells differentiated on the scaffold had strong immunoreactivity with monoclonal antibody against collagen type II. Conclusions The evidence presented in this study introduces MenSCs as a suitable stem cell population candidate for cartilage tissue engineering.
High‐Performance Metal‐Free Solar Cells Using Stamp Transfer Printed Vapor Phase Polymerized Poly(3,4‐Ethylenedioxythiophene) Top Anodes
Authors: Wang Xiangjun , Ishwara Thilini , Gong Wei , Campoy‐Quiles Mariano , Nelson Jenny , Bradley Donal D. C. 
Published: February 2012

AbstractThe use of vapor phase polymerized poly(3,4‐ethylenedioxythiophene) (VPP‐PEDOT) as a metal‐replacement top anode for inverted solar cells is reported. Devices with both i) standard bulk heterojunction blends of poly(3‐hexylthiophene) (P3HT) donor and 1‐(3‐methoxycarbonyl)‐propyl‐1‐phenyl‐(6,6)C60 (PCBM) soluble fullerene acceptor and ii) hybrid inorganic/organic TiO2/P3HT acceptor/donor active layers are studied. Stamp transfer printing methods are used to deposit both the VPP‐PEDOT top anode and a work function enhancing PEDOT:polystyrenesulphonate (PEDOT:PSS) interlayer. The metal‐free devices perform comparably to conventional devices with an evaporated metal top anode, yielding power conversion efficiencies of 3% for bulk heterojunction blend and 0.6% for organic/inorganic hybrid structures. These encouraging results suggest that stamp transfer printed VPP‐PEDOT provides a useful addition to the electrode materials tool‐box available for low temperature and non‐vacuum solar cell fabrication.
Design of an “Active Defense” System as Drug Carriers for Cancer Therapy
Authors: Zhang Jing , Xu Xiao‐Ding , Liu Yun , Liu Chen‐Wei , Chen Xiu‐Hong , Li Cao , Zhuo Ren‐Xi , Zhang Xian‐Zheng 
Published: February 2012

AbstractA novel intelligent “active defense” system that can specially respond to cancerous tissues for drug release was designed and prepared. The “active defense” system consists of a biodegradable dextran microgel core cross‐linked by a Schiff's base and a surrounding layer formed by Layer‐by‐Layer (LbL) assembly. The loading and release of macromolecular model drug, dex‐FITC, as well as antineoplastic drug, DOX, was investigated. The in vitro cell inhibition and drug release behavior of the drug delivery system were studied and the results showed that the entrapped drug could be explosively released from the microcapsules and thereafter taken up by cancer cells upon the trigger of the acidic environment around tumor tissues.
Exploring the Origin of the Temperature‐Dependent Behavior of PbS Nanocrystal Thin Films and Solar Cells
Authors: Szendrei Krisztina , Speirs Mark , Gomulya Widianta , Jarzab Dorota , Manca Marianna , Mikhnenko Oleksandr V. , Yarema Maksym , Kooi Bart J. , Heiss Wolfgang , Loi Maria A. 
Published: February 2012

AbstractTemperature‐dependent studies of the electrical and optical properties of cross‐linked PbS nanocrystal (NC) solar cells can provide deeper insight into their working mechanisms. It is demonstrated that the overall effect of temperature on the device efficiency originates from the temperature dependence of the open‐circuit voltage and the short‐circuit current, while the fill factor remains approximately constant. Extensive modeling provides signs of band‐like transport in the inhomogeneously coupled NC active layer and shows that the charge transport is dominated by diffusion. Moreover, via low temperature absorption and photoluminescence (PL) measurements, it is shown that the optical properties of PbS thin films before and after benzenedithiol (BDT) treatment exhibit very distinct behavior. After BDT treatment, both the optical density (OD) and PL are shifted to lower energies, indicating the occurrence of electronic wave function overlap between adjacent NCs. Decrease of the temperature leads to additional red‐shift of the OD and PL spectra, which is explained by the well‐known temperature dependence of the PbS NCs' bandgap. Moreover, BDT treated PbS NCs show unusual properties, such as decrease of the PL signal and broadening of the spectra at low temperatures. These features can be attributed to the partial relaxation of the quantum confinement and the opening of new radiative and nonradiative pathways for recombination at lower temperatures due to the presence of trap states.
Operational Stability of Organic Field‐Effect Transistors
Authors: Bobbert Peter A. , Sharma Abhinav , Mathijssen Simon G. J. , Kemerink Martijn , de Leeuw Dago M. 
Published: February 2012

AbstractOrganic field‐effect transistors (OFETs) are considered in technological applications for which low cost or mechanical flexibility are crucial factors. The environmental stability of the organic semiconductors used in OFETs has improved to a level that is now sufficient for commercialization. However, serious problems remain with the stability of OFETs under operation. The causes for this have remained elusive for many years. Surface potentiometry together with theoretical modeling provide new insights into the mechanisms limiting the operational stability. These indicate that redox reactions involving water are involved in an exchange of mobile charges in the semiconductor with protons in the gate dielectric. This mechanism elucidates the established key role of water and leads in a natural way to a universal “stress function”, describing the stretched exponential‐like time dependence ubiquitously observed. Further study is needed to determine the generality of the mechanism and the role of other mechanisms.
Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability
Authors: Margarit Ester , Morales Carme , Rodríguez‐Revenga Laia , Monné Raquel , Badenas Cèlia , Soler Anna , Clusellas Núria , Mademont Irene , Sánchez Aurora 
Published: February 2012

AbstractThe deletion of the long arm of chromosome 18 causes a contiguous gene deletion syndrome with a highly variable phenotype, usually related to the extent of the deleted region. The most commonly reported clinical features include: decreased growth, microcephaly, facial abnormalities, hypotonia, developmental delay, intellectual disability, congenital aural atresia with hearing impairment and limb anomalies. Here we report on a familial terminal deletion of 18q23 region transmitted from a mother to two daughters, resulting in a remarkable phenotypic variability. The deletion was first detected by conventional cytogenetic analysis in one daughter and subsequently characterized using fluorescence in situ hybridization (FISH) and array‐CGH. FISH analysis using subtelomeric 18p and 18q probes confirmed the 18qter deletion in the three patients, and FISH with a whole chromosome painting probe specific for chromosome 18 excluded rearrangements with other chromosomes. Array‐CGH analysis allowed us to precisely define the extent of the deletion, which spans 4.8 Mb from 71,236,891 to 76,093,303 genomic positions and includes GALR1 and MBP genes, among others. High‐resolution analysis of the deletion, besides a detailed clinical assessment, has provided important data for phenotype–genotype correlation and genetic counseling in this family. Furthermore, this study adds valuable information for phenotype–genotype correlation in 18q‐ syndrome and might facilitate future search for candidate genes involved in each phenotypic trait. © 2012 Wiley Periodicals, Inc.
Ophthalmic features of CHARGE syndrome with CHD7 mutations
Authors: Nishina Sachiko , Kosaki Rika , Yagihashi Tatsuhiko , Azuma Noriyuki , Okamoto Nobuhiko , Hatsukawa Yoshikazu , Kurosawa Kenji , Yamane Takahiro , Mizuno Seiji , Tsuzuki Kinichi , Kosaki Kenjiro 
Published: February 2012

AbstractColoboma and various ocular abnormalities have been described in CHARGE syndrome, although the severity of visual impairment varies from case to case. We conducted a multicenter study to clarify the ophthalmic features of patients with molecularly confirmed CHARGE syndrome. Thirty‐eight eyes in 19 patients with CHARGE syndrome and confirmed CHD7 mutations treated at four centers were retrospectively studied. Colobomata affected the posterior segment of 35 eyes in 18 patients. Both retinochoroidal and optic disk colobomata were bilaterally observed in 15 patients and unilaterally observed in 3 patients. The coloboma involved the macula totally or partially in 21 eyes of 13 patients. We confirmed that bilateral large retinochoroidal colobomata represents a typical ophthalmic feature of CHARGE syndrome in patients with confirmed CHD7 mutations; however, even eyes with large colobomata can form maculas. The anatomical severity of the eye defect was graded according to the presence of colobomata, macula defect, and microphthalmos. A comparison of the severity in one eye with that in the other eye revealed a low‐to‐moderate degree of agreement between the two eyes, reflecting the general facial asymmetry of patients with CHARGE syndrome. The location of protein truncation and the anatomical severity of the eyes were significantly correlated. We suggested that the early diagnosis of retinal morphology and function may be beneficial to patients, since such attention may determine whether treatment for amblyopia, such as optical correction and patching, will be effective in facilitating the visual potential or whether care for poor vision will be needed. © 2012 Wiley Periodicals, Inc.
The importance of advanced parental age in the origin of neurofibromatosis type 1
Authors: Snajderova Marta , Riccardi Vincent M. , Petrak Borivoj , Zemkova Daniela , Zapletalova Jirina , Mardesic Tonko , Petrakova Alena , Lanska Vera , Marikova Tatiana , Bendova Sarka , Havlovicova Marketa , Kaluzova Marie 
Published: February 2012

AbstractVon Recklinghausen neurofibromatosis (NF1) is an autosomal dominant disorder with a prevalence about 1/3,000 (1/2,000–1/5,000 in various population‐based studies). About 30–50% of cases are sporadic, resulting from a new mutation. NF1 is fully penetrant by mid‐childhood, stigmata, and medical problems (neurological, dermatological, endocrine, ophthalmological, oncological) are highly variable. Advanced paternal age (APA) has been known to increase the risk of new germline mutations that contribute to the presence of a variety of genetic diseases in the human population. The trend in developed countries has been toward higher parental age due to various reasons. In a cross‐sectional study, in two university hospital centers, data on parental age of 103 children (41 female) born between 1976 and 2005 with sporadic NF1 were analyzed. Parental age at birth was compared with the Czech general population matched to birth year. The mean NF1 sporadic case paternal age at birth was 32.0 years (95% CI 30.7–33.3 years) compared with 28.8 years (95% CI 28.6–29.1 years) in the general population (P < 0.001). The mean maternal age at birth was 27.4 years (95% CI 26.3–28.5 years) compared with 25.8 years (95% CI 25.5–26.0 years) in the general population (P < 0.05). The case‐control difference in the father's age was higher than it was for the mother's age. Sporadic NF1 cases accounted for 35.6% of our entire NF1 cohort. We confirmed an association of advanced parental and particularly paternal age with the occurrence of sporadic NF1. © 2012 Wiley Periodicals, Inc.
Characterization of a novel KRAS mutation identified in Noonan syndrome
Authors: Razzaque Md. Abdur , Komoike Yuta , Nishizawa Tsutomu , Inai Kei , Furutani Michiko , Higashinakagawa Toru , Matsuoka Rumiko 
Published: February 2012

AbstractNoonan syndrome (NS) is the most common non‐chromosomal syndrome seen in children and is characterized by short stature, dysmorphic facial features, chest deformity, a wide range of congenital heart defects and developmental delay of variable degree. Mutations in the Ras/mitogen‐activated protein kinase (MAPK) signaling pathways cause about 70% of NS cases with a KRAS mutation present in about 2%. In a cohort of 65 clinically confirmed NS patients of Japanese origin, we screened for mutations in the RAS genes by direct sequencing. We found a novel mutation in KRAS with an amino acid substitution of asparagine to serine at codon 116 (N116S). We analyzed the biological activity of this mutant by ectopic expression of wild‐type or mutant KRAS. NS‐associated KRAS mutation resulted in Erk activation and active Ras–GTP levels, and exhibited mild cell proliferation. In addition, kras‐targeted morpholino knocked‐down zebrafish embryos caused heart and craniofacial malformations, while the expression of mutated kras resulted in maldevelopment of the heart. Our findings implicate that N116S change in KRAS is a hyperactive mutation which is a causative agent of NS through maldevelopment of the heart. © 2012 Wiley Periodicals, Inc.
Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication
Authors: Pope Kathleen , Samanich Joy , Ramesh K.H. , Cannizzaro Linda , Pan Qiulu , Babcock Melanie 
Published: February 2012

AbstractWe report on a child with dextrocardia, atrial septal defect (ASD), severe developmental delay, hypotonia, 13 pairs of ribs, left preauricular choristoma, hirsutism, and craniofacial abnormalities. Prenatal cytogenetic evaluation showed karyotype 46,XY,?dup(8p)ish del(8)pter. Postnatal array CGH demonstrated a 6.8 Mb terminal deletion at 8p23.3–p23, an interstitial 31.1 Mb duplication within 8p23.1–p11, and a terminal duplication of 0.24 Mb at 22q13.33, refining the karyotype to 46,XY,der(8)dup(8)(p23.1p11.1)t(8;22)(p23.1;q13.1).ish der(8)dup(8)(p23.1p11.1)t(8;22)(p23.1;q13.1) (D8S504‐,MS607 + ,ARSA + ,D8Z1 + , RP115713 + +). Previous reports of distal 8p deletion, 8p duplication, and distal 22q duplication have shown similar manifestations, including congenital heart disease, intellectual impairment, and multiple minor anomalies. We correlate the patient's clinical findings with these particular areas of copy number. This case study supports the use of aCGH to identify subtle chromosomal rearrangement in infants with cardiac malformation as their most significant or only apparent birth defect. Additionally, it illustrates why aCGH is essential in the description of chromosome rearrangements, even those seemingly visible via routine karyotype. This method shows that there is often greater complexity submicroscopically, essential to an adequate understanding of a patient's genotype and phenotype. © 2012 Wiley Periodicals, Inc.
Non‐immune hydrops fetalis: A short review of etiology and pathophysiology
Authors: Bellini Carlo , Hennekam Raoul CM 
Published: February 2012

AbstractHydrops fetalis is an excessive accumulation of fetal fluid. Hydrops is traditionally classified into either immune or non‐immune hydrops (NIHF), but in practice, nowadays in the Western world >90% of hydrops is of non‐immune origin. The basis of the disorder is an imbalance in the regulation of fetal fluid movement between the vascular and interstitial space. We previously suggested a diagnostic flow‐chart for NIHF. In this short review we describe the main mechanisms leading to NIHF. © 2012 Wiley Periodicals, Inc.
Chromosome 22q11.2 duplication is rare in a population‐based cohort of Danish children with cardiovascular malformations
Authors: Agergaard Peter , Olesen Charlotte , Østergaard John Rosendahl , Christiansen Michael , Sørensen Karina Meden 
Published: February 2012

AbstractThe prevalence of the 22q11.2 duplication is unknown in children with cardiovascular malformations (CVMs). As most individuals with the duplication are detected in the search for other conditions, especially the 22q11.2 deletion, CVMs associated with the duplication are subject to referral bias. We circumvented this bias by investigating the prevalence of the 22q11.2 duplication in a population‐based cohort of children with CVMs. The study population was defined as children born in 2000–2008, who were registered in the Danish National Patient Registry with a diagnosis of CVM from one of the two national university departments of pediatric cardiology. Sensitive multiplex ligation‐dependent probe amplification was performed on dried blood spot samples from each individual's neonatal screening test. The study population consisted of 2,952 children with CVMs, 2,424 of whom were eligible for genetic testing; 13 individuals (0.5% [0.3–0.9%]) carried the duplication. Nine individuals (69%) had not previously been tested for a copy number variation on chromosome 22q11.2 in the clinical setting for children with CVMs. We conclude that 22q11.2 duplication is rare in children with CVMs, and is primarily found in malformations that are also associated with the 22q11.2 deletion. © 2012 Wiley Periodicals, Inc.
Informing on prenatal screening for Down syndrome prior to conception. An empirical and ethical perspective
Authors: Schoonen Marleen , van der Zee Boukje , Wildschut Hajo , de Beaufort Inez , de Wert Guido , de Koning Harry , Essink‐Bot Marie‐Louise , Steegers Eric 
Published: February 2012

AbstractIn most Western countries, information on prenatal screening for Down syndrome is provided in the first‐trimester of pregnancy. The purpose of this study was to examine whether this information should additionally be provided before pregnancy to improve the informed decision‐making process. In an empirical study, we obtained data from pregnant women with respect to their preferences regarding information on prenatal screening preconceptionally. Questionnaire data (n = 510) showed that 55.7% of responding women considered participating in prenatal screening for Down syndrome before pregnancy. 28.0% of women possessed information on prenatal screening preconceptionally. 84.6% preferred not to receive information preconceptionally in retrospect. In an ethical analysis, we elaborated on these preferences by weighing pros and cons. We considered two arguments against the provision of information on prenatal screening preconceptionally: women's preference to receive information in a step‐by‐step manner, and the risk of providing a directive message. We identified three reasons supporting its provision preconceptionally: the likelihood of making an informed decision could, firstly, be increased by “unchaining” the initial information from possible subsequent decisions, and, secondly, by providing women sufficient time to deliberate. Thirdly, the probability of equal access to prenatal screening may increase. To conclude with, we propose to incorporate an information offer on prenatal screening for Down syndrome in preconception care consultations. By offering information, instead of providing information, prospective parents are enabled to either accept or decline the information, which respects both their right to know and their right not‐to‐know. © 2012 Wiley Periodicals, Inc.