bluuebunny/crossref_metadata_2025_split huggingface dataset:
Syndrome‐specific growth charts for 22q11.2 deletion syndrome in Caucasian children
Authors: Habel Alex , McGinn Michael‐John , Zackai Elaine H. , Unanue Nancy , McDonald‐McGinn Donna M. 
Published: June 2012

AbstractGrowth faltering occurs frequently in infancy in the 22q11 Deletion syndrome (22q11 DS). The subsequent course of growth in childhood and outcome for final adult height lacks consensus. We analyzed 5,149 growth data points from 812 Caucasian subjects with 22q11 DS, from neonates to 37 years old. Charts were constructed for height, weight, body mass index, and head circumference (OFC) using the LMS Chart Maker program. These charts were compared with the WHO birth to 4 years growth standard and US CDC 2000 growth reference between 5 and 20 years. Starting from the 50th centile at birth, by 6–9 months of age boys mean height and weight had fallen to the 9th centile, as did girls height but their weight fell less markedly, to the 25th centile. Feeding difficulties were non‐contributory. In children under 2 years old with congenital heart disease (CHD) mean weight was −0.5 SD lighter than no CHD. Catch up growth occurred, more rapid in weight than height in boys. Up to 10 years old both sexes tracked between the 9th and 25th centiles. In adolescence, the trend was to overweight rather than obesity. At 19 years mean height was −0.72 SD for boys, −0.89 SD girls. OFC was significantly smaller than the WHO standard in infancy, between the 9th and 25th centile, rising to the 25th centile by 5 years old. Thereafter the mean was close to the 9th centile of the OFC UK growth reference, more prolonged and marked than in previous studies. © 2012 Wiley Periodicals, Inc.
Tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation
Authors: George‐Abraham Jaya K. , Zimmerman Sarah L. , Hinton Robert B. , Marino Bradley S. , Witte David P. , Hopkin Robert J. 
Published: June 2012

AbstractWe report on a male neonate with prenatally diagnosed mosaicism for a supernumerary marker chromosome and multiple congenital anomalies. Prenatal ultrasound imaging revealed a heart defect, pleural effusion, clubbed feet, and absent right kidney. Clinical cytogenetic analysis of amniocytes identified a marker chromosome present in 10 out of 15 cells analyzed. Clinical evaluation of the neonate revealed distinct facial features, complex heart defects, solitary left kidney, and arachnodactyly. Chromosome analysis of lymphocytes demonstrated an abnormal male karyotype with a marker chromosome present in all 24 cells examined. To identify the marker chromosome, SNP microarray analysis was performed which detected the presence of a two copy gain of 17.7 Mb of DNA from the distal long arm of chromosome 15 (15q25.2‐qter). FISH analysis using a probe specific to the 15q26.3 region showed one signal on each normal 15q and two signals, one on each arm of the marker chromosome resulting in four copies. Distal tetrasomy 15q is rare. Only 11 cases have been described in the literature, all due to a supernumerary analphoid marker chromosome consisting of an inverted duplication of the distal long arm of chromosome 15. We report on a unique patient with tetrasomy 15q with complex cardiovascular malformation (CVM) involving progressive diffuse pulmonary vein stenosis (PVS). We propose overexpression of three genes, ADAMTSL3, MESP1, and MESP2 as a potential mechanism for cardiac and vessel malformations associated with tetrasomy 15q. Finally, we believe cardiac defects with this genetic syndrome are a poor prognostic finding associated with high mortality. © 2012 Wiley Periodicals, Inc.
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay
Authors: Baratela Wagner A.R. , Bober Michael B. , Tiller George E. , Okenfuss Ericka , Ditro Colleen , Duker Angela , Krakow Deborah , Stabley Deborah L. , Sol‐Church Katia , Mackenzie William , Lachman Ralph , Scott Charles I. 
Published: June 2012

AbstractWe describe a series of seven male patients from six different families with skeletal dysplasia, characteristic facial features, and developmental delay. Skeletal findings include patellar dislocation, short tubular bones, mild metaphyseal changes, brachymetacarpalia with stub thumbs, short femoral necks, shallow acetabular roofs, and platyspondyly. Facial features include: a flattened midface with broad nasal bridge, cleft palate or bifid uvula and synophrys. All of the patients demonstrated pre‐school onset of a cognitive developmental delay with a shortened attention span. Some of the cognitive delay was masked by a warm and engaging personality. We posit that these individuals have a newly recognized syndrome characterized by the described features. There is some phenotypic overlap between these patients and Desbuquois dysplasia; however molecular testing demonstrated that this is a distinct disorder. Given the family information available for each patient, we are suspicious that the constellation of findings reported herein could be an X‐linked recessive syndrome. © 2012 Wiley Periodicals, Inc.
Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes
Authors: Wain Karen , Swanson Karen , Watson William , Jeavons Elysia , Weaver Amy , Lindor Noralane 
Published: June 2012

AbstractHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations (AVM) in the brain, lung, liver, gastrointestinal tract, or spine. While pregnant women with HHT are known to have increased risks due to pulmonary AVMs, little is known about any increased risk for fetal birth defects or other adverse pregnancy outcomes. To investigate potential increased risk, individuals with a clinical diagnosis of HHT were asked to complete a survey composed of four sections: demographics, personal history of HHT, personal history of birth defects (modeled after state registries), and reproductive history. A total of 226 participants reported outcomes of 560 pregnancies, as well as self‐reported personal history of birth defects. Of the 560 pregnancies, 450 (80.4%) resulted in 457 live births and 63 (13.8%) were pre‐term. Of the 110 pregnancy losses, 80 (72.7%) were first trimester and five were stillborn. Anomalies considered to be medically or cosmetically significant were reported in 17 babies (3.7%). The presence of significant anomalies was not significantly associated with whether the baby had an HHT diagnosis (P = 0.55) or the gender of the parent with HHT (P = 0.32). Four liveborn babies and one stillborn had a cerebral AVM or hemorrhage in the perinatal period. Prevalence of uterine hemorrhage, pre‐eclampsia, placental abnormalities, low‐birth weight, and infertility did not appear increased over the general population. These data provide some reassurance that HHT does not lead to an appreciable increased risk for birth defects or other adverse pregnancy outcomes. © 2012 Wiley Periodicals, Inc.
Preparation and characterization of a bioadhesive with poly (vinyl alcohol) crosslinking agent
Authors: Xue Jie , Wang Tao , Nie Jun , Yang Dongzhi 
Published: June 2012

AbstractSynthetic adhesives containing 3,4‐dihydroxy‐L‐phenylalanine and its derivatives have strong adhesion strength and good biocompatibility, which make them prime candidates for adhesives or bioadhesives applications. In this study, a new photocurable poly (vinyl alcohol) (UV‐PVA) derivative was prepared and used as crosslinking agent to further improve adhesion strength of dopamine methacrylamide (DMA) system. The structure of UV‐PVA was confirmed, and the degree of acryloyl group substitution (DS) was easily varied from 10 to 40% by varying the molar ratio of acryloyl chloride to OH of PVA. The effects of ultraviolet light intensity, content of DMA and DS values of PVA on the photopolymerization kinetics were studied, and the effects of DS value on the adhesive strength, swelling performance and cell attachment were also investigated. It was found that adhesive containing UV‐PVA with 40% DS value yielded the highest adhesive strength, a relatively low swelling ratio and good biocompatibility. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Simultaneous polymerization and quaternization of 4‐vinyl pyridine
Authors: Mondal P. , Saha S. K. , Chowdhury P. 
Published: June 2012

AbstractQuantitative polymerization of 4‐vinyl pyridine (4‐VP) and its quaternization has been done simultaneously for the first time in absence of organic solvents. 1, 4‐dibromo‐2‐butene acts as quaternizing agent. The quaternized polymer has been characterized by chemical, thermal and spectral analysis. The mechanistic path involved in the polymerization and quaternization has been elucidated. Particle size, surface area, ion exchange capacity and metal ion binding property were determined. The polymer was found to have pH‐dependent chromate ion binding capacity with high level of selectivity and good antibacterial activity. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Morphofunctional Adaptations of the Olfactory Mucosa in Postnatally Developing Rabbits
Authors: Kavoi Boniface M. , Makanya Andrew N. , Johanna Plendl , Kiama Stephen G. 
Published: June 2012

AbstractRabbits are born blind and deaf and receive unusually limited maternal care. Consequently, their suckling young heavily rely on the olfactory cue for nipple attachment. However, the postnatal morphofunctional adaptations of olfactory mucosa (OM) are not fully elucidated. To clarify on the extent and the pattern of refinement of the OM following birth in the rabbit, morphologic and morphometric analysis of the mucosa were done at neonatal (0–1 days), suckling (2 weeks), weanling (4 weeks), and adult (6–8 months) stages of postnatal development. In all the age groups, the basic components of the OM were present. However, proliferative activity of cells of the mucosal epithelium decreased with increasing age as revealed by Ki‐67 immunostaining. Diameters of axon bundles, packing densities of olfactory cells, and cilia numbers per olfactory cell knob increased progressively with age being 5.5, 2.1, and 2.6 times, respectively, in the adult as compared with the neonate. Volume fraction values for the bundles increased by 5.3% from birth to suckling age and by 7.4% from weaning to adulthood and the bundle cores were infiltrated with blood capillaries in all ages except in the adult where such vessels were lacking. The pattern of cilia projection from olfactory cell knobs also showed age‐related variations, that is, arose as a tuft from the tips of the knobs in neonates and sucklings and in a radial pattern from the knob bases in weanlings and adults. These morphological changes may be attributed to the high olfactory functional demand associated with postnatal development in the rabbit. Anat Rec, 2012. © 2012 Wiley Periodicals, Inc.
Novel Pyrazole and Indazole Derivatives: Synthesis and Evaluation of Their Anti‐Proliferative and Anti‐Angiogenic Activities
Authors: Tzanetou Evangelia , Liekens Sandra , Kasiotis Konstantinos M. , Fokialakis Nikolas , Haroutounian Serkos A. 
Published: June 2012

AbstractThe synthesis of several new pyrazole and indazole derivatives from acetophenone and tetralone substrates is reported. The bioactivities of the new compounds were evaluated through in vitro assays for endothelial cell proliferation and tube formation. Results herein indicate that the easily prepared compounds containing the indazole structural framework exhibit potent cytostatic properties against all cell lines tested, with compounds 13 and 14 being the most active displaying IC50 values of 1.5 ± 0.4 µM and 5.6 ± 2.5 µM, respectively, against MCF‐7 cells. In addition, the indazole derivative 16 was assessed as a competent inhibitor of endothelial tube formation at 30 µM.
Brominated Methanes as Photoresponsive Molecular Storage of Elemental Br2
Authors: Kawakami Kazumitsu , Tsuda Akihiko 
Published: June 2012

AbstractThe photochemical generation of elemental Br2 from brominated methanes is reported. Br2 was generated by the vaporization of carbon oxides and HBr through oxidative photodecomposition of brominated methanes under a 20 W low‐pressure mercury lamp, wherein the amount and situations of Br2 generation were photochemically controllable. Liquid CH2Br2 can be used not only as an organic solvent but also for the photoresponsive molecular storage of Br2, which is of great technical benefit in a variety of organic syntheses and in materials science. By taking advantage of the in situ generation of Br2 from the organic solvent itself, many organobromine compounds were synthesized in high practical yields with or without the addition of a catalyst. Herein, Br2 that was generated by the photodecomposition of CH2Br2 retained its reactivity in solution to undergo essentially the same reactions as those that were carried out with solutions of Br2 dissolved in CH2Br2 that were prepared without photoirradiation. Furthermore, HBr, which was generated during the course of the photodecomposition of CH2Br2, was also available for the substitution of the OH group for the Br group and for the preparation of the HBr salts of amines. Furthermore, the photochemical generation of Br2 from CH2Br2 was available for the area‐selective photochemical bleaching of natural colored plants, such as red rose petals, wherein Br2 that was generated photochemically from CH2Br2 was painted onto the petal to cause radical oxidations of the chromophoric anthocyanin molecules.
Implementation of proton transfer reaction‐mass spectrometry (PTR‐MS) for advanced bioprocess monitoring
Authors: Luchner Markus , Gutmann Rene , Bayer Karl , Dunkl Jürgen , Hansel Armin , Herbig Jens , Singer Wolfgang , Strobl Florian , Winkler Klaus , Striedner Gerald 
Published: June 2012

AbstractWe report on the implementation of proton transfer reaction‐mass spectrometry (PTR‐MS) technology for on‐line monitoring of volatile organic compounds (VOCs) in the off‐gas of bioreactors. The main part of the work was focused on the development of an interface between the bioreactor and an analyzer suitable for continuous sampling of VOCs emanating from the bioprocess. The permanently heated sampling line with an inert surface avoids condensation and interaction of volatiles during transfer to the PTR‐MS. The interface is equipped with a sterile sinter filter unit directly connected to the bioreactor headspace, a condensate trap, and a series of valves allowing for dilution of the headspace gas, in‐process calibration, and multiport operation. To assess the aptitude of the entire system, a case study was conducted comprising three identical cultivations with a recombinant E. coli strain, and the volatiles produced in the course of the experiments were monitored with the PTR‐MS. The high reproducibility of the measurements proved that the established sampling interface allows for reproducible transfer of volatiles from the headspace to the PTR‐MS analyzer. The set of volatile compounds monitored comprises metabolites of different pathways with diverse functions in cell physiology but also volatiles from the process matrix. The trends of individual compounds showed diverse patterns. The recorded signal levels covered a dynamic range of more than five orders of magnitude. It was possible to assign specific volatile compounds to distinctive events in the bioprocess. The presented results clearly show that PTR‐MS was successfully implemented as a powerful bioprocess‐monitoring tool and that access to volatiles emitted by the cells opens promising perspectives in terms of advanced process control. Biotechnol. Bioeng. 2012; 109: 3059–3069. © 2012 Wiley Periodicals, Inc.
LC‐MS‐based metabolic characterization of high monoclonal antibody‐producing Chinese hamster ovary cells
Authors: Chong William Pooi Kat , Thng Shu Hui , Hiu Ai Ping , Lee Dong‐Yup , Chan Eric Chun Yong , Ho Ying Swan 
Published: June 2012

AbstractThe selection of suitable mammalian cell lines with high specific productivities is a crucial aspect of large‐scale recombinant protein production. This study utilizes a metabolomics approach to elucidate the key characteristics of Chinese hamster ovary (CHO) cells with high monoclonal antibody productivities (qmAb). Liquid chromatography‐mass spectrometry (LC‐MS)‐based intracellular metabolite profiles of eight single cell clones with high and low qmAb were obtained at the mid‐exponential phase during shake flask batch cultures. Orthogonal projection to latent structures discriminant analysis (OPLS‐DA) subsequently revealed key differences between the high and low qmAb clones, as indicated by the variable importance for projection (VIP) scores. The mass peaks were further examined for their potential association with qmAb across all clones using Pearson's correlation analysis. Lastly, the identities of metabolites with high VIP and correlation scores were confirmed by comparison with standards through LC‐MS‐MS. A total of seven metabolites were identified—NADH, FAD, reduced and oxidized glutathione, and three activated sugar precursors. These metabolites are involved in key cellular pathways of citric acid cycle, oxidative phosphorylation, glutathione metabolism, and protein glycosylation. To our knowledge, this is the first study to identify metabolites that are associated closely with qmAb. The results suggest that the high producers had elevated levels of specific metabolites to better regulate their redox status. This is likely to facilitate the generation of energy and activated sugar precursors to meet the demands of producing more glycosylated recombinant monoclonal antibodies. Biotechnol. Bioeng. 2012; 109: 3103–3111. © 2012 Wiley Periodicals, Inc.
Deployment of drug‐eluting stents for isolated proximal lad disease is associated with lower major adverse cardiac events and no increase in stent thrombosis when compared with bare metal stents: A 5‐year observational cohort study
Authors: Jones Daniel A. , Rathod Krishnaraj S. , Gallagher Sean , Weerackody Roshan , Knight Charles J. , Rothman Martin T. , Mathur Anthony , Jain Ajay K. , Timmis Adam D. , Wragg Andrew 
Published: June 2012

BackgroundDrug‐eluting stents (DES) may be associated with an increased risk of late stent thrombosis (ST) compared with bare metal stents (BMS). We compared major adverse cardiac events (MACE) and long term all cause mortality in patients with isolated proximal LAD disease treated with DES or BMS.Method and ResultsThis study of 1653 patients with isolated proximal LAD disease, includes 643 treated with BMS and 1010 treated with DES. All patients received standard dual antiplatelet treatment. MACE after 5 years were less frequent in DES compared with BMS (12.1% 95% CI 9.3–14.2 versus 21.3% 95% CI: 16.9–25.1, P < 0.0001), driven largely by a decreased rate of both target vessel and lesion revascularization (TVR: 6.3%, 95% CI 4.0–7.5% versus 14.7%, 95% CI 11.0–17.3%, P < 0.0001, TLR: (5.3%, 95% CI 3.2–7.1% versus 13.2%, 95% CI 9.8.0–15.4%, P < 0.0001). There was no difference in the rate of death, myocardial infarction, or CVA. Incidence of stent thrombosis was also comparable (1.2% 95% CI: 0.6–2.6% versus 1.1% 95% CI: 0.6–2.5%, P = 0.8). Adjusted Cox analysis confirmed a decreased risk of MACE for DES compared with BMS 0.55 (95% confidence intervals 0.41–0.73) with no difference in the hazard of all cause mortality (HR: 1.04 95% CI: 0.67–1.61).ConclusionWhen treating proximal LAD disease, use of DES was associated with a lower MACE rate than BMS, with no differences in the incidence of stent thrombosis, myocardial infarction or 5 year all cause mortality. Our data suggests that despite the adverse prognostic correlates of proximal LAD disease, DES deployment in this location is both safe and clinically more effective than BMS. © 2012 Wiley Periodicals, Inc.
Two New Tirucallane‐Type Triterpenoids from the Stem Barks of Aphanamixis grandifolia and Their Cytotoxic Activities
Authors: Zhang Yao , Wang Junsong , Wang Pengran , Kong Lingyi 
Published: June 2012

AbstractTwo new tirucallane‐type triterpenoids, 3α,24β,25‐trihydroxy‐21,21‐dimethoxy‐23‐oxo‐tirucall‐7‐ene (1) and 3α‐acetoxy‐21β‐methoxy‐24,25,26,27‐tetranortirucall‐7‐ene‐23(21)‐lactone (2), were isolated from the stem barks of Aphanamixis grandifolia, and their structures were elucidated on the basis of spectroscopic data analysis including 1D, 2D NMR, IR, and ESI‐MS spectral methods. The two isolates were evaluated for their cytotoxicities using NCI‐H460 and HeLa cell lines.
Two Unusual Flavanol Derivatives from Brainea insignis
Authors: Yang Minghui , Cai Le , Shen Xiaojing , Zhao Mian , Yin Tianpeng , Ding Zhongtao 
Published: June 2012

AbstractTwo new flavanol derivatives, bearing phenylpropionic acid moiety at C‐4 through a CC bonding, named brainin B (1) and brainin C (2), were isolated from Brainea insignis. Their structures were elucidated by NMR and MS spectrometry. Brainins B and C were tested for their antioxidant properties in DPPH (2,2‐diphenyl‐1‐picrylhydrazyl) radical scavenging, and both compounds displayed potent antioxidant activities.
Defensive Sesquiterpenoids from Leaves of Eupatorium adenophorum
Authors: Shi Wei , Luo Shihong , Li Shenghong 
Published: June 2012

AbstractThe invasive plant Eupatorium adenophorum Spreng has caused great economic loss in China, and is gravely threatening the native biodiversity and ecosystem. The plant has been phytochemically investigated for the defensive chemical substances in its leaves. Three active sesquiterpenoids were isolated and identified, which include a new sesquiterpenoid (1), and two known sesquiterpenoids (2, 3). Their structures were established by spectroscopic studies such as 1D‐ and 2D‐NMR and MS analyses. Meanwhile, the antifeedant activities of these compounds against two generalist plant‐feeding insects, Helicoverpa armigera and Spodoptera exigua, were carried out. Compound 1 showed significant antifeedant activity against S. exigua with EC50=7.46 µg/cm2, while compounds 2 and 3 were more active against H. armigera (EC50=2.57 and 3.04 µg/cm2 respectively). These findings suggest a defensive role of sesquiterpenoids in E. adenophorum against herbivores.
Chemical Progress in Cyclopeptide‐containing Traditional Medicines Cited in Chinese Pharmacopoeia
Authors: Zhao Simeng , Kuang Bin , Peng Wenwen , He Wenjun , Xu Huimin , Ji Changjiu , Han Jing , Zheng Yuqing , Song Weiwu , Tan Ninghua 
Published: June 2012

AbstractPlant cyclopeptides, cyclic compounds formed mainly by the peptidic bonds of 2–37 protein and non‐protein amino acids (mainly L‐amino acids) and found in higher plants, have been attractive for their extensive bioactivities and distinctive molecular architectures. During the last half century's study, about 500 cyclopeptides divided into eight types have been isolated from over 120 species, which belong to over 20 families and 60 genera. Some cyclopeptides showed potential anti‐tumor, sedative, immunosuppressive, and uterotonic activities. In the Chinese Pharmacopoeia (CP, 2010 Version), 23 species (14 families, 18 genera) containing cyclopeptides have been recorded in the origins of 24 traditional Chinese medicines (TCMs). Heterophyllin B (64), first reported by us from Pseudostellaria heterophylla in 1993 was cited for the first time in CP as the standard substance of cyclopeptides for quality control. In this review, we highlight the progress in the chemical studies of these cyclopeptide‐containing TCMs, in particular recent results in our group's publications.