bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial ring (18) mosaicism in a 23‐year‐old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX
Authors: Balci Sevim , Tümer Celal , Karaca Çiğdem , Bartsch Oliver 
Published: April 2011

AbstractWe report on a 23‐year‐old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2–C3 vertebrae, intellectual disability, and severe sleep apnea. Chromosome analysis of blood lymphocytes showed 75% ring (18) cells and 25% normal cells, karyotype mos 46,XY,r(18)(::p11→q21::)[75]/46,XY[25]. His mother was phenotypically normal except for a double ureter and bifid renal pelvis as in his son. She had a supernumerary ring (18) in 10% of blood lymphocytes, karyotype mos 47,XX,+r(18)(::p11→q21::)[10]/46,XX[90]. Familial ring (18) is a rare cytogenetic abnormality. This is the first report of a mother with a supernumerary ring (18) and a son with ring (18) mosaicism. Interestingly, the son showed a true mosaicism (mixoploidy) of ring (18) and normal cells. The mother's 46,XX cells could be easily explained by mitotic instability and ring loss during cell division. However, the coexistence of ring (18) and normal cells in the son is unusual. Possibly, during early postzygotic divisions of a 47,XY,+r(18) zygote, two (possibly subsequent) genetic events could have occurred, one when one normal chromosome 18 was lost (resulting in a cell line with ring 18), and one when the ring 18 was lost (resulting in a cell line without ring, “escape to normal”). Alternatively, the zygote of the son could have been 46,XY,r(18), and postzygotic loss of the ring 18 could have resulted in monosomy 18 cells followed by duplication of chromosome 18 in these cells (a rare mechanism for cell survival previously described as “compensatory” isodisomy). © 2011 Wiley‐Liss, Inc.
Costello and cardio‐facio‐cutaneous syndromes: Moving toward clinical trials in RASopathies
Authors: Rauen Katherine A. , Banerjee Anuradha , Bishop W. Robert , Lauchle Jennifer O. , McCormick Frank , McMahon Martin , Melese Teri , Munster Pamela N. , Nadaf Sorena , Packer Roger J. , Sebolt‐Leopold Judith , Viskochil David H. 
Published: April 2011

AbstractThe RASopathies, one of the largest groups of multiple congenital anomaly syndromes known, are caused by germline mutations in various genes encoding components of the Ras/mitogen‐activated protein kinase (MAPK) pathway. The RASopathies have many overlapping characteristics, including craniofacial manifestations, cardiac malformations, cutaneous, musculoskeletal, gastrointestinal, and ocular abnormalities, neurocognitive impairment, hypotonia, and an increased risk of developing cancer. Costello syndrome (CS) and cardio‐facio‐cutaneous (CFC) syndrome are two of the more rare RASopathies. CS is caused by activating mutations in HRAS, and CFC is caused by dysregulation of signaling in the Ras/MAPK pathway due to mutations in BRAF, MEK1, or MEK2. The Ras/MAPK pathway, which has been well‐studied in cancer, is an attractive target for inhibition in the treatment of various malignancies utilizing small molecule therapeutics that specifically inhibit the pathway. With many inhibitors of the Ras/MAPK pathway in clinical trials, the notion of using these molecules to ameliorate developmental defects in CS and CFC is under consideration. CS and CFC, like other syndromes in their class, have a progressive phenotype and may be amenable to inhibition or normalization of signaling. © 2011 Wiley‐Liss, Inc.
Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype?
Authors: Allanson Judith E. , Annerén Göran , Aoki Yoki , Armour Christine M. , Bondeson Marie‐Louise , Cave Helene , Gripp Karen W. , Kerr Bronwyn , Nystrom Anna‐Maja , Sol‐Church Katia , Verloes Alain , Zenker Martin 
Published: April 2011

AbstractCardio‐facio‐cutaneous (CFC) syndrome is a sporadic multiple congenital anomalies/mental retardation condition principally caused by mutations in BRAF, MEK1, and MEK2. Mutations in KRAS and SHOC2 lead to a phenotype with overlapping features. In approximately 10–30% of individuals with a clinical diagnosis of CFC, a mutation in one of these causative genes is not found. Cardinal features of CFC include congenital heart defects, a characteristic facial appearance, and ectodermal abnormalities. Additional features include failure to thrive with severe feeding problems, moderate to severe intellectual disability and short stature with relative macrocephaly. First described in 1986, more than 100 affected individuals are reported. Following the discovery of the causative genes, more information has emerged on the breadth of clinical features. Little, however, has been published on genotype–phenotype correlations. This clinical study of 186 children and young adults with mutation‐proven CFC syndrome is the largest reported to date. BRAF mutations are documented in 140 individuals (∼75%), while 46 (∼25%) have a mutation in MEK 1 or MEK 2. The age range is 6 months to 32 years, the oldest individual being a female from the original report [Reynolds et al. (1986); Am J Med Genet 25:413–427]. While some clinical data on 136 are in the literature, 50 are not previously published. We provide new details of the breadth of phenotype and discuss the frequency of particular features in each genotypic group. Pulmonary stenosis is the only anomaly that demonstrates a statistically significant genotype–phenotype correlation, being more common in individuals with a BRAF mutation. © 2011 Wiley‐Liss, Inc.
Upconverting Nanoparticles for Nanoscale Thermometry
Authors: Fischer Lorenz H. , Harms Gregory S. , Wolfbeis Otto S. 
Published: April 2011

AbstractUpconverting materials are capable of absorbing near‐infrared light and converting it into short‐wavelength luminescence. The efficiency of this remarkable effect is highly temperature dependent and thus can be used for temperature determination (thermometry) on a nanometer scale. All the upconverting materials discovered so far display several (mainly two) narrow emission bands, each of which has its own temperature dependence. The ratio of the intensity of two of these bands provides a referenced signal for optical sensing of temperature, for example inside cells.
Synthesis of dihydropyrazole‐bridged dinuclear ferrocenyl derivatives and their catalytic effect on thermal decomposition of ammonium perchlorate
Authors: Gao Yong , Li Heng‐dong , Ke Cheng‐feng , Xie Li‐li , Wei Bing , Yuan Yao‐feng 
Published: April 2011

AbstractDihydropyrazole‐bridged dinuclear ferrocenyl derivatives (3a–3c) have been synthesized by the reaction of 1,3‐diferrocenyl‐2‐propen‐1‐on (1) with hydrazine, then acylation with acyl chloride directly. The structures were determined by mass spectrometry, IR and 1H NMR spectroscopy. The compound 3c was characterized by single‐crystal X‐ray analyses. It was found that compounds 3a–3c have significant catalytic effect on the decomposition of ammonium perchlorate (AP). Compared with the thermal decomposition of pure AP, adding 3a, 3b and 3c in AP decreases its decomposition temperature by 78.8, 74.3 and 57.1 °C, respectively. Copyright © 2011 John Wiley & Sons, Ltd.
Mn(III) mixed‐ligand complexes with bis‐pyrazolones and ciprofloxacin drug: synthesis, characterization and antibacterial activities
Authors: Modi C.K. , Jani D.H. 
Published: April 2011

AbstractThe fluoroquinolone family member ciprofloxacin is well known for its drug design and coordinating ability towards metal ions. The coordination chemistry of this drug with metal ions of biological and pharmaceutical importance is of considerable interest. Novel Mn(III) mixed‐ligand complexes of ciprofloxacin with various bis‐pyrazolone‐based dinegative bidentate ligands were synthesized and characterized on the basis of their physical properties, magnetic susceptibility measurements, (FT‐IR and electronic) spectral studies. The FAB‐mass spectrum of [Mn(A9)(L)(H2O)2]·H2O [where H2A9 = 4,4′‐(p‐tolylmethylene)bis(3‐methyl‐1‐phenyl‐4,5‐dihydro‐1H‐pyrazol‐5‐ol) and HL = 1‐cyclopropyl‐6‐fluoro‐4‐oxo‐7‐(piperazin‐1‐yl)‐1,4‐dihydroquinoline‐3‐carboxylic acid] was determined. All the synthesized compounds were screened for their bioactivity. The mixed‐ligand complexes exhibited comparable activities against two Gram‐negative (Escherichia coli and Serratia marcescens) and two Gram‐positive (Staphylococcus aureus and Bacillus subtilis) microorganisms. Copyright © 2011 John Wiley & Sons, Ltd.
Endothelial dysfunction in rat adjuvant‐induced arthritis: Up‐regulation of the vascular arginase pathway
Authors: Prati Clément , Berthelot Alain , Wendling Daniel , Demougeot Céline 
Published: April 2011

AbstractObjectiveTo investigate whether arginase pathway abnormalities occur in vessels from rats with adjuvant‐induced arthritis (AIA), and to determine whether the up‐regulation of arginase, which reciprocally regulates nitric oxide synthase (NOS) by competing for the same substrate, L‐arginine, contributes to endothelial dysfunction in AIA.MethodsWe performed vascular reactivity experiments on thoracic aortic rings from AIA rats and control rats, and we investigated the response of rings to norepinephrine (NE), sodium nitroprusside (SNP), and acetylcholine (ACh). ACh‐induced relaxation was evaluated in the presence (or not in the presence) of the NOS inhibitor NG‐nitro‐L‐arginine methyl ester (L‐NAME), the arginase inhibitor Nω‐hydroxy‐nor‐L‐arginine (nor‐NOHA), or both. Aortic arginase activity was measured using a spectrophotometric method, and the expression of arginase and endothelial NOS (eNOS) was evaluated by Western blotting.ResultsACh‐induced vasodilation was significantly impaired in AIA rats, while the responses to NE and to SNP did not differ from those in control rats. L‐NAME reduced ACh‐induced vasodilation to a lesser extent in AIA rats than in control rats. Incubation of aortic rings with nor‐NOHA enhanced the vascular response to ACh in AIA rats and reversed the effects of L‐NAME. Compared with control rats, AIA rats exhibited increased vascular expression of arginase II (by 22%) (P < 0.05) as well as increased arginase activity (by 49%) (P < 0.05), whereas eNOS expression was unchanged. Finally, arginase activity and expression correlated positively with arthritis severity.ConclusionOur results are consistent with the notion that arginase up‐regulation plays a role in AIA‐associated endothelial dysfunction. They suggest that arginase might be an attractive new target for treating endothelial dysfunction in arthritis.
Body parts removed during surgery: A useful training source
Authors: Macchi Veronica , Porzionato Andrea , Stecco Carla , Tiengo Cesare , Parenti Anna , Cestrone Adriano , De Caro Raffaele 
Published: April 2011

AbstractCurrent undergraduate medical curricula provides relatively little time for cadaver dissection. The Department of Human Anatomy and Physiology at the University of Padova has organized a pilot project with the University Hospital for the donation of body parts that are surgically removed for therapeutic purposes and destined under Italian law for destruction. The aim of the project is to improve residents' practical training skills. A survey over the last two years has shown that about 60 body parts were available each year. These included 13 upper limbs or their parts (i.e., forearm with hand, hand, and fingers) and 47 lower limbs or their parts (i.e., legs with feet, feet, or toes). The residents explained the aim of the project to potential donors, and, if patients were willing to donate, their informed consent was obtained. The residents were present in the operating theater during the surgical procedure. In the post‐operative phase, the same residents performed dissections on the body part(s), following a teaching schedule prepared by a clinical anatomist, who also assisted residents during their studies. Residents also acted as tutors for undergraduate medical students who attended these dissections. The underlying pathology for which the body part was removed was examined, and surgical procedures were practiced on the body part itself. Our project provided an opportunity for a close relationship between anatomists and surgeons, reinforcing core knowledge of anatomy by appreciation of its clinical importance. The active involvement of residents as learners and as teachers in the various steps of this project improved their knowledge of surgical techniques and helped to establish a sense of ethical responsibility and respect for the human body. This approach involves study of anatomical structures from new perspectives and leads to improved surgical practice. Anat Sci Educ 4:151–156, 2011. © 2011 American Association of Anatomists.
Chemotaxis increases vertical migration and apparent transverse dispersion of bacteria in a bench‐scale microcosm
Authors: Strobel Kathryn L. , McGowan Sara , Bauer Robert D. , Griebler Christian , Liu Jun , Ford Roseanne M. 
Published: April 2011

AbstractThe success of in situ bioremediation is often limited by the inability to bring bacteria in contact with the pollutant, which they will degrade. A bench‐scale model aquifer was used to evaluate the impact of chemotaxis on the migration of bacteria toward the source of a chemical pollutant. The model was packed with sand and aqueous media was pumped across horizontally, simulating groundwater flow in a homogenous aquifer. A vertical gradient in chemoattractant was created by either a continuous injection of sodium benzoate or a pulse injection of sodium acetate. A pulse of chemotactic Pseudomonas putida F1 or a non‐chemotactic mutant of the same species was injected below the attractant. The eluent was sampled at the microcosm outlet to generate vertical concentration profiles of the bacteria and chemoattractant. Moment analysis was used to determine the center and variance of the bacterial profiles. The center of the chemotactic bacterial population was located at an average of 0.74 ± 0.07 cm closer to the level at which the chemoattractant was injected than its non‐chemotactic mutant in benzoate experiments (P < 0.015) and 0.4 ± 0.2 cm closer in acetate experiments (P < 0.05). The transverse dispersivity of the chemotactic bacteria was 4 ± 1 × 10−3 cm higher in benzoate experiments than the transverse dispersivity of the non‐chemotactic mutant and 1 ± 2 × 10−3 cm higher in acetate experiments. These results underscore the contribution of chemotaxis to improve transport of bacteria to contaminant sources, potentially enhancing the effectiveness of in situ bioremediation. Biotechnol. Bioeng. 2011;108:2070–2077. © 2011 Wiley Periodicals, Inc.
Culture of microalgae Chlorella minutissima for biodiesel feedstock production
Authors: Tang Haiying , Chen Meng , Garcia M.E.D. , Abunasser Nadia , Ng K.Y. Simon , Salley Steven O. 
Published: April 2011

AbstractMicroalgae are among the most promising of non‐food based biomass fuel feedstock alternatives. Algal biofuels production is challenged by limited oil content, growth rate, and economical cultivation. To develop the optimum cultivation conditions for increasing biofuels feedstock production, the effect of light source, light intensity, photoperiod, and nitrogen starvation on the growth rate, cell density, and lipid content of Chlorella minutissima were studied. The fatty acid content and composition of Chlorella minutissima were also investigated under the above conditions. Fluorescent lights were more effective than red or white light‐emitting diodes for algal growth. Increasing light intensity resulted in more rapid algal growth, while increasing the period of light also significantly increased biomass productivity. Our results showed that the lipid and triacylglycerol content were increased under N starvation conditions. Thus, a two‐phase strategy with an initial nutrient‐sufficient reactor followed by a nutrient deprivation strategy could likely balance the desire for rapid and high biomass generation (124 mg/L) with a high oil content (50%) of Chlorella minutissima to maximize the total amount of oil produced for biodiesel production. Moreover, methyl palmitate (C16:0), methyl oleate (C18:1), methyl linoleate (C18:2), and methyl linolenate (C18:3) are the major components of Chlorella minutissima derived FAME, and choice of light source, intensity, and N starvation impacted the FAME composition of Chlorella minutissima. The optimized cultivation conditions resulted in higher growth rate, cell density, and oil content, making Chlorella minutissima a potentially suitable organism for biodiesel feedstock production. Biotechnol. Bioeng. 2011;108: 2280–2287. © 2011 Wiley Periodicals, Inc.
A genetic reporter system to gauge cell proliferation rate
Authors: Peacock Ryan W.S. , Wang Clifford L. 
Published: April 2011

AbstractIn higher eukaryotes, E2F transcription factors often drive expression of genes necessary for the cell cycle, notably the G1/S phase transition. With conventional transcriptional reporter systems, expression of a reporter gene from an E2F‐responsive promoter would allow one to identify the fraction of cells making this transition. Here, we have engineered an E2F‐responsive genetic reporter system that outputs the proliferation rate. The system takes advantage of the long half‐lives of fluorescent protein reporters and output signal normalization. By doing so, it converts dynamic pulses of E2F activity into an analog output proportional to the proliferation rate. Such a system should be useful for applications involving high‐throughput drug or genetic screens, investigation of cellular environment, and biological engineering. Biotechnol. Bioeng. 2011;108:2003–2010. © 2011 Wiley Periodicals, Inc.
3D body scanning with hairstyle using one time‐of‐flight camera
Authors: Tong Jing , Zhang Mingmin , Xiang Xueqin , Shen Huaqing , Yan Hao , Chen Zhengming 
Published: April 2011

AbstractCapturing realistic 3D shapes of human bodies is very useful for many computer graphics applications. However, for existing 3D shape capturing devices, such as structured light, laser scanner or multi‐view methods, problems arise when dealing with 3D hairstyle scanning and body deformation. To solve these problems, a novel approach is proposed to scan 3D body with hairstyle using only one time‐of‐flight (TOF) camera. By capturing depth data at video rate, temporal average meshes can be obtained from different views. After some analysis, we found that the local geometric details of real surfaces, after the hair scanning process and low‐frequency body deformation, are still preserved in the average meshes. Utilising the restriction that the corresponding surfaces in different views should overlap, a global optimisation process is proposed to iteratively improve the average meshes, while still preserving the geometric details. The proposed system is compact, and can scan 3D human body easily. Copyright © 2011 John Wiley & Sons, Ltd.
Atmospheric‐Pressure, Liquid‐Phase, Selective Aerobic Oxidation of Alkanes Catalysed by Metal–Organic Frameworks
Authors: Dhakshinamoorthy Amarajothi , Alvaro Mercedes , Garcia Hermenegildo 
Published: April 2011

AbstractAerobic oxidation of cyclooctane to its corresponding ol/one mixture at atmospheric pressure and in the liquid phase is efficiently promoted by an Fe(BTC) (BTC=1,3,5‐benzenetricarboxylate) metal–organic framework, incorporating N‐hydroxyphthalimide and in several cases reaches a selectivity over 90 % at 28 % conversion. This catalytic system is further extended to other hydrocarbons, such as ethylbenzene and 1,2,3,4‐tetrahydronaphthalene (tetralin), with high selectivity (>85 %). This high selectivity in the product distribution arises from a radical reaction mechanism that occurs inside a hydrophobic cavity that preferentially adsorbs hydrocarbons over their corresponding alcohols. The system can be reused although there is a gradual decrease in turnover frequency, caused by minor changes in the crystal structure due to the formation of iron oxide nanoparticles. Given the sustainable nature of the oxidant and the mild conditions used, this discovery could serve to develop a new catalyst generation for the oxyfunctionalisation of hydrocarbon feedstocks with the real possibility of finding industrial application.
A Facile Route to Water‐Soluble Coronenes and Benzo[ghi]perylenes
Authors: Schmidt Cordula D. , Lang Nina , Jux Norbert , Hirsch Andreas 
Published: April 2011

AbstractClick reactions at the bay‐position of perylenes and a new route to benzo[ghi]perylenes and coronenes are presented. Irradiation with light leads to an electrocyclic reaction of the newly formed triazole ring(s) with the neighbouring bay‐positions of the perylene core and after oxidation by air, the benzo[ghi]perylenes and coronenes are obtained. By using Newkome dendrimers as substituents for perylene diimides (PDIs), water solubility can be achieved after removal of the tert‐butyl protecting groups. The aggregation and optical properties of the bay‐functionalised PDIs, benzo[ghi]perylenes and coronenes are investigated by absorption and fluorescence spectroscopy.
ChemInform Abstract: Structure and Conformational Properties of Azido(difluoro)phosphane, F2PN3.
Authors: Zeng Xiaoqing , Beckers Helmut , Willner Helge , Berger Raphael J. F. , Hayes Stuart A. , Mitzel Norbert W. 
Published: April 2011

AbstractThe title compound is characterized by IR (gas phase, Ar matrix), Raman (liquid, amorphous, and crystalline solid), and 19F, 31P, 14N and 15N NMR spectroscopy, as well as by quantum chemical DFT calculations.
ChemInform Abstract: Cu22Bi12S21Cl16 — A Mixed Conductor with Fast One‐Dimensional Copper(I) Ion Transport.
Authors: Heerwig Andreas , Merkle Rotraut , Maier Joachim , Ruck Michael 
Published: April 2011

AbstractBlack, shiny needles of the title compound are prepared by melting a mixture of Cu, CuCl, S, and Bi2S3 (1120 K, tempering at 570 K for 14 d).
ChemInform Abstract: A New Series of Lanthanoid Containing Keggin‐Type Germanotungstates with Acetate Chelators: [{Ln(CH3COO)GeW11O39 (H2O)}2]12‐ {Ln: EuIII, GdIII, TbIII, DyIII, HoIII, ErIII, TmIII, and YbIII}.
Authors: Hussain Firasat , Sandriesser Stefan , Speldrich Manfred , Patzke Greta R. 
Published: April 2011

AbstractCompounds (IV) and (VI) are characterized by single crystal XRD and IR spectroscopy.
ChemInform Abstract: Development of the Intramolecular Prins Cyclization/Schmidt Reaction for the Construction of the Azaspiro[4,4]nonane: Application to the Formal Synthesis of (.+‐.)‐Stemonamine.
Authors: Chen Zhi‐Hua , Tu Yong‐Qiang , Zhang Shu‐Yu , Zhang Fu‐Min 
Published: April 2011

AbstractTreatment of the azide (I) with TiCl4 results in a new and efficient formation of the spiro compound (II).
ChemInform Abstract: Catalytic Hydroarylation of Alkynes with Arenes in the Presence of FeCl3 and AgOTf.
Authors: Hashimoto Takuya , Kutubi Shahajahan , Izumi Takayuki , Rahman Ataur , Kitamura Tsugio 
Published: April 2011

AbstractFeCl3 in combination with AgOTf efficiently promotes the hydroarylation of propiolic acids to produce cinnamic acids.
ChemInform Abstract: Efficient Catalytic Alkyne Metathesis with a Tri(tert‐Butoxy)silanolate‐Supported Tungsten Benzylidyne Complex.
Authors: Lysenko Sergej , Haberlag Birte , Daniliuc Constantin G. , Jones Peter G. , Tamm Matthias 
Published: April 2011

AbstractThe complex is used as an efficient catalyst in alkyne cross‐metathesis and ring‐closing alkyne metathesis reactions.
ChemInform Abstract: Rhodium‐Catalyzed Carbothiolation Reaction of 1‐Alkylthio‐1‐alkynes.
Authors: Arisawa Mieko , Igarashi Yui , Tagami Yoko , Yamaguchi Masahiko , Kabuto Chizuko 
Published: April 2011

AbstractThe reaction proceeds with 1,3‐butadiynes, 1‐decyne or (tert‐butylthio)ethyne (X) in the presence of RhH(PPh3)4 and an appropriate phosphine ligand.