bluuebunny/crossref_metadata_2025_split huggingface dataset:
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations
Authors: Vandersteen Anthony M. , Lund Allan M. , Ferguson David J.P. , Sawle Philip , Pollitt Rebecca C. , Holder Susan E. , Wakeling Emma , Moat Neil , Pope F. Michael 
Published: December 2013

AbstractOsteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility. The diagnosis of a type I collagen disorder was confirmed by abnormal COL1A1 or COL1A2 gene sequencing. One patient was investigated with electrophoresis of collagens from cultured skin fibroblasts, showing structurally abnormal collagen type I, skin biopsy showed unusual histology and abnormal collagen fibril ultra‐structure at electron microscopy. The combined clinical, surgical, histological, ultra‐structural, and molecular genetic data suggest the type I collagen defect as contributory to cardiac valvular disease. The degree of tissue fragility experienced at cardiac surgery in these individuals, also reported in a small number of similar case reports, suggests that patients with OI type I need careful pre‐operative assessment and consideration of the risks and benefits of cardiac surgery. © 2013 Wiley Periodicals, Inc.
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region
Authors: So Joyce , Stockley Tracy , Stavropoulos Dimitri J. 
Published: December 2013

ABSTRACTJacobsen syndrome (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and cardiac abnormalities, among other congenital anomalies. JS is caused by contiguous gene deletion in distal chromosome 11q, generally varying in size from 7 to 20 Mb. Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder in which neurons are abnormally located in nodules along the edges of the lateral ventricles. PVNH can also be seen with other congenital anomalies, including a recurrent association with distal limb defects. Transverse limb defects have previously been reported in two patients with JS. We report on a patient with a 3.162 Mb interstitial deletion at chromosome region 11q24 overlapping the region commonly affected in JS. The patient had PVNH and a transverse limb reduction defect, with minimal typical findings of JS. This is the first report of PVNH associated with a microdeletion at chromosome 11q and may represent an expansion of the phenotypic spectrum associated with JS. This is the third report of transverse limb reduction defects in association with JS, supporting a widening of the skeletal phenotypic spectrum in JS to include more severe limb anomalies. ETS1 is proposed as a candidate gene for involvement in limb anomalies in JS. © 2013 Wiley Periodicals, Inc.
Surgical intervention for esophageal atresia in patients with trisomy 18
Authors: Nishi Eriko , Takamizawa Shigeru , Iio Kenji , Yamada Yasumasa , Yoshizawa Katsumi , Hatata Tomoko , Hiroma Takehiko , Mizuno Seiji , Kawame Hiroshi , Fukushima Yoshimitsu , Nakamura Tomohiko , Kosho Tomoki 
Published: December 2013

ABSTRACTTrisomy 18 is a common chromosomal aberration syndrome involving growth impairment, various malformations, poor prognosis, and severe developmental delay in survivors. Although esophageal atresia (EA) with tracheoesophageal fistula (TEF) is a potentially fatal complication that can only be rescued through surgical correction, no reports have addressed the efficacy of surgical intervention for EA in patients with trisomy 18. We reviewed detailed clinical information of 24 patients with trisomy 18 and EA who were admitted to two neonatal intensive care units in Japan and underwent intensive treatment including surgical interventions from 1982 to 2009. Nine patients underwent only palliative surgery, including six who underwent only gastrostomy or both gastrostomy and jejunostomy (Group 1) and three who underwent gastrostomy and TEF division (Group 2). The other 15 patients underwent radical surgery, including 10 who underwent single‐stage esophago‐esophagostomy with TEF division (Group 3) and five who underwent two‐stage operation (gastrostomy followed by esophago‐esophagostomy with TEF division) (Group 4). No intraoperative death or anesthetic complications were noted. Enteral feeding was accomplished in 17 patients, three of whom were fed orally. Three patients could be discharged home. The 1‐year survival rate was 17%: 27% in those receiving radical surgery (Groups 3 and 4); 0% in those receiving palliative surgery (Groups 1 and 2). Most causes of death were related to cardiac complications. EA is not an absolute poor prognostic factor in patients with trisomy 18 undergoing radical surgery for EA and intensive cardiac management. © 2013 Wiley Periodicals, Inc.
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations
Authors: Gueneau Lucie , Duplomb Laurence , Sarda Pierre , Hamel Christian , Aral Bernard , Chehadeh Salima El , Gigot Nadège , St‐Onge Judith , Callier Patrick , Thevenon Julien , Huet Frédéric , Carmignac Virginie , Droin Nathalie , Faivre Laurence , Thauvin‐Robinet Christel 
Published: December 2013

ABSTRACTOver one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive chorioretinal dystrophy, and neutropenia. We report on a patient carrying two VPS13B splicing mutations with an atypical phenotype that included microcephaly, retinopathy, and congenital neutropenia, but neither obesity nor ID. RNA analysis of the IVS34+2T_+3AinsT mutation did not reveal any abnormal splice fragments but mRNA quantification showed a significant decrease in VPS13B expression. RNA sequencing analysis up‐ and downstream from the IVS57+2T>C mutation showed abnormal splice isoforms. In contrast to patients with typical CS, who express only abnormal VPS13B mRNA and truncated protein, a dose effect of residual normal VPS13B protein possibly explains the incomplete phenotype in the patient. This observation emphasizes that VPS13B analysis should be performed in cases of congenital neutropenia associated with retinopathy, even in the absence of ID, therefore extending the VPS13B phenotype spectrum. © 2013 Wiley Periodicals, Inc.
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome
Authors: Shimada Shino , Maegaki Yoshihiro , Osawa Makiko , Yamamoto Toshiyuki 
Published: December 2013

AbstractWe identified mosaic 1p36 deletions in two patients with developmental delay, distinctive features, and obesity, who can walk alone and communicate with others. Thus, their neurological defects are milder than those in typical patients with 1p36 deletion syndrome because most patients with 1p36 deletion cannot acquire expressive language. Chromosomal microarray testing revealed 3.0 and 4.5 Mb aberrations in the subtelomeric region of the short arm of chromosome 1. Mean signal ratios of the identified aberrations were −0.4 and −0.5, indicating mosaicism, which was confirmed by fluorescence in situ hybridization analysis with a mosaic ratio of 70% and 77%, respectively. Previous studies demonstrated that deletion of the distal 2–3 Mb region would be responsible for hyperphagia and obesity seen in patients. On the other hand, the severity of the neurological defect often correlates with the size of the terminal deletion of 1p36, and patients with larger deletions of 1p36 would usually show severely impaired developmental milestones and be immobile and aphasic. In such cases, hyperphagia and obesity could be clinically masked. In this study, two patients with mosaic deletions of 1p36 showed obesity as a consequence of hyperphagia. This study suggests that patients with 1p36 deletion would be at risk for hyperphagia and obesity when they have both risk factors, that is, (1) deletions including the 2–3 Mb critical region and (2) milder phenotypes that allow them to reach food on their own and to overeat. © 2013 Wiley Periodicals, Inc.
An open‐label pilot study of N‐acetylcysteine for skin‐picking in Prader–Willi syndrome
Authors: Miller Jennifer L. , Angulo Moris 
Published: December 2013

ABSTRACTPrader–Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11‐q13) that results in a host of behavioral characteristics including excessive interest in food, skin picking, difficulty with a change in routine, and obsessive and compulsive behaviors. Skin‐picking can result in serious and potentially life‐threatening infections. Recent evidence suggests that the excitatory neurotransmitter glutamate is dysregulated in obsessive‐compulsive behaviors, and modulation of the glutaminergic pathway may decrease compulsive behaviors, such as recurrent hair pulling or skin‐picking behaviors. N‐acetylcysteine (NAC), a derivative of the amino acid cysteine, is thought to act either via modulation of NMDA glutamate receptors or by increasing glutathione in pilot studies. Thirty‐five individuals with confirmed PWS (ages 5–39 years, 23 females/12 males) and skin‐picking behavior for more than 1 year were treated with N‐acetylcysteine (Pharma‐NAC®) at a dose of 450–1,200 mg/day. Skin‐picking symptoms and open lesions were assessed after 12 weeks of treatment by counting and measuring lesions before and after the medication. All 35 individuals had improvement in skin‐picking behaviors. Ten (29%) individuals (six males and four females) did not have complete resolution of skin‐picking behavior, but had significant reduction in the number of active lesions. Longer‐term, placebo‐controlled trials are needed to further assess the potential benefit of this treatment. © 2013 Wiley Periodicals, Inc.
Functionalized Tricyclic Cytosine Analogues Provide Nucleoside Fluorophores with Improved Photophysical Properties and a Range of Solvent Sensitivities
Authors: Rodgers Brittney J. , Elsharif Nada A. , Vashisht Nisha , Mingus Macy M. , Mulvahill Mark A. , Stengel Gudrun , Kuchta Robert D. , Purse Byron W. 
Published: December 2013

AbstractTricyclic cytosines (tC and tCO frameworks) have emerged as a unique class of fluorescent nucleobase analogues that minimally perturb the structure of B‐form DNA and that are not quenched in duplex nucleic acids. Systematic derivatization of these frameworks is a likely approach to improve on and diversify photophysical properties, but has not so far been examined. Synthetic methods were refined to improve on tolerance for electron‐donating and electron‐withdrawing groups, resulting in a series of eight new, fluorescent cytidine analogues. Photophysical studies show that substitution of the framework results in a pattern of effects largely consistent across tC and tCO and provides nucleoside fluorophores that are brighter than either parent. Moreover, a range of solvent sensitivities is observed, offering promise that this family of probes can be extended to new applications that require reporting on the local environment.
A Mechanistic Study of the Spontaneous Hydrolysis of Glycylserine as the Simplest Model for Protein Self‐Cleavage
Authors: Mihaylov Tzvetan T. , Parac‐Vogt Tatjana N. , Pierloot Kristine 
Published: December 2013

AbstractA common feature of several classes of intrinsically reactive proteins with diverse biological functions is that they undergo self‐catalyzed reactions initiated by an N→O or N→S acyl shift of a peptide bond adjacent to a serine, threonine, or cysteine residue. In this study, we examine the N→O acyl shift initiated peptide‐bond hydrolysis at the serine residue on a model compound, glycylserine (GlySer), by means of DFT and ab initio methods. In the most favorable rate‐determining transition state, the serine COO− group acts as a general base to accept a proton from the attacking OH function, which results in oxyoxazolidine ring closure. The calculated activation energy (29.4 kcal mol−1) is in excellent agreement with the experimental value, 29.4 kcal mol−1, determined by 1H NMR measurements. A reaction mechanism for the entire process of GlySer dipeptide hydrolysis is also proposed. In the case of proteins, we found that when no other groups that may act as a general base are available, the N→O acyl shift mechanism might instead involve a water‐assisted proton transfer from the attacking serine OH group to the amide oxygen. However, the calculated energy barrier for this process is relatively high (33.6 kcal mol−1), thus indicating that in absence of catalytic factors the peptide bond adjacent to serine is no longer a weak point in the protein backbone. An analogous rearrangement involving the amide N‐protonated form, rather than the principle zwitterion form of GlySer, was also considered as a model for the previously proposed mechanism of sea‐urchin sperm protein, enterokinase, and agrin (SEA) domain autoproteolysis. The calculated activation energy (14.3 kcal mol−1) is significantly lower than the experimental value reported for SEA (≈21 kcal mol−1), but is still in better agreement as compared to earlier theoretical attempts.
Rational Design of Carboxyl Groups Perpendicularly Attached to a Graphene Sheet: A Platform for Enhanced Biosensing Applications
Authors: Bonanni Alessandra , Chua Chun Kiang , Pumera Martin 
Published: December 2013

AbstractGraphene oxide (GO)‐based materials offer great potential for biofunctionalization with applications ranging from biosensing to drug delivery. Such biofunctionalization utilizes specific functional groups, typically a carboxyl moiety, as anchoring points for biomolecule. However, due to the fact that the exact chemical structure of GO is still largely unknown and poorly defined (it was postulated to consist of various oxygen‐containing groups, such as epoxy, hydroxyl, carboxyl, carbonyl, and peroxy in varying ratios), it is challenging to fabricate highly biofunctionalized GO surfaces. The predominant anchoring sites (i.e., carboxyl groups) are mainly present as terminal groups on the edges of GO sheets and thus account for only a fraction of the oxygen‐containing groups on GO. Herein, we suggest a direct solution to the long‐standing problem of limited abundance of carboxyl groups on GO; GO was first reduced to graphene and consequently modified with only carboxyl groups grafted perpendicularly to its surface by a rational synthesis using free‐radical addition of isobutyronitrile with subsequent hydrolysis. Such grafted graphene oxide can contain a high amount of carboxyl groups for consequent biofunctionalization, at which the extent of grafting is limited only by the number of carbon atoms in the graphene plane; in contrast, the abundance of carboxyl groups on “classical” GO is limited by the amount of terminal carbon atoms. Such a graphene platform embedded with perpendicularly grafted carboxyl groups was characterized in detail by X‐ray photoelectron spectroscopy, cyclic voltammetry, and electrochemical impedance spectroscopy, and its application was exemplified with single‐nucleotide polymorphism detection. It was found that the removal of oxygen functionalities after the chemical reduction enhanced the electron‐transfer rate of the graphene. More importantly, the introduction of carboxyl groups promoted a more efficient immobilization of DNA probes on the electrode surface and improved the performance of graphene as a biosensor in comparison to GO. The proposed material can be used as a universal platform for biomolecule immobilization to facilitate rapid and sensitive detection of DNA or proteins for point‐of‐care investigations. Such reactive carboxyl groups grafted perpendicularly on GO holds promise for a highly efficient tailored biofunctionalization for applications in biosensing or drug delivery.
Tetrafluorination of Sugars as Strategy for Enhancing Protein–Carbohydrate Affinity: Application to UDP‐Galp Mutase Inhibition
Authors: N'Go Inès , Golten Samuel , Ardá Ana , Cañada Javier , Jiménez‐Barbero Jesús , Linclau Bruno , Vincent Stéphane P. 
Published: December 2013

AbstractTetrafluorinated analogues of both UDP‐galactopyranose and UDP‐galactofuranose have been synthesized and assayed against UDP‐galactopyranose mutase, a key enzyme for Mycobacterium tuberculosis cell wall biosynthesis. Competition assays and STD‐NMR spectroscopy techniques have evidenced not only the first unambiguous case of affinity enhancement through local sugar polyfluorination, but also showed that tetrafluorination can still have a beneficial effect on binding when monofluorination at the same position does not.
ChemInform Abstract: Scalable Synthesis of Fe3O4/C Composites with Enhanced Electrochemical Performance as Anode Materials for Lithium‐Ion Batteries.
Authors: Hu Meijuan , Jiang Yinzhu , Yan Mi 
Published: December 2013

AbstractFe3O4/C composites are obtained from mixtures of Fe2O3 and sucrose in flowing argon at 500 °C for 2 h.
ChemInform Abstract: Extreme‐Rate Capable and Highly Stable SiCO—TiO2 Hybrids for Li Ion Battery Anodes.
Authors: Behera Shantanu , Raj Rishi 
Published: December 2013

AbstractThe title hybrid material for Li ion battery anodes is prepared from a slurry of 1,3,5,7‐tetravinyl‐1,3,5,7‐tetramethylcyclotetrasiloxane, dicumyl peroxide as radical initiator, and TiO2 nanoparticles.
ChemInform Abstract: CuCrO2 Delafossite: A Stable Copper Catalyst for Chlorine Production.
Authors: Amrute Amol P. , Larrazabal Gaston O. , Mondelli Cecilia , Perez‐Ramirez Javier 
Published: December 2013

AbstractSingle‐phase cuprous delafossites CuMO2 (M: Cr, Al, Ga, Fe, Mn) are synthesized by solid state reaction of equimolar mixtures of Cu2O and M2O3 (1273—1423 K, 30 h).
ChemInform Abstract: Mesoporous Ta3N5 Microspheres Prepared from a High‐Surface‐Area, Microporous, Amorphous Precursor and Their Visible‐Light‐Driven Photocatalytic Activity.
Authors: Cao Jing , Ren Ling , Li Na , Hu Changwen , Cao Minhua 
Published: December 2013

AbstractMesoporous Ta3N5 microspheres are prepared by nitridation of a microporous amorphous Ta2O5 precursor under NH3 flow at 750 °C for 9 h.
ChemInform Abstract: Convenient Preparation of Ternary Carbidoaluminates — The Example MgAl2C2.
Authors: Kubus Mariusz , Meyer H.‐Juergen 
Published: December 2013

Abstractβ‐MgAl2C2 is synthesized in high yield by a solid state metathesis reaction of Al powder, MgCl2, and Li2C2 (Nb container, 900 °C, 2 d).
ChemInform Abstract: High‐Pressure Synthesis and Characterization of the Actinide Borate Phosphate U2[BO4][PO4].
Authors: Hinteregger Ernst , Wurst Klaus , Perfler Lukas , Kraus Florian , Huppertz Hubert 
Published: December 2013

AbstractThe new title compound is synthesized in a Walker‐type multianvil apparatus from UO3, H3BO3, and P4O10 (12.5 GPa, 1000 °C, 5 min).
ChemInform Abstract: Insights on Growth and Nanoscopic Investigation of Uncommon Iron Oxide Polymorphs.
Authors: Carraro Giorgio , Maccato Chiara , Bontempi Elza , Gasparotto Alberto , Lebedev Oleg I. , Turner Stuart , Depero Laura E. , Van Tendeloo Gustaaf , Barreca Davide 
Published: December 2013

AbstractChemical vapor deposition of Fe2O3 nanomaterials on Si(100) at temperatures between 400 and 550 °C selectively yields β‐ and ε‐Fe2O3 polymorphs under dry oxygen or oxygen and water vapor reaction environments, respectively.
ChemInform Abstract: Ionic Liquid Iodinating Reagent for Mild and Efficient Iodination of Aromatic and Heteroaromatic Amines and Terminal Alkynes.
Authors: Nouzarian Mahboobe , Hosseinzadeh Rahman , Golchoubian Hamid 
Published: December 2013

AbstractSignificant advantages of the novel dichloroiodate ionic liquid with respect to reported iodination protocols are its simplicity, considerably fast reaction, solvent‐free conditions, regioselectivity, good product yields and reusability of the ionic liquid reagent.
ChemInform Abstract: Fe‐Promoted Cross Coupling of Homobenzylic Methyl Ethers with Grignard Reagents via sp3 C—O Bond Cleavage.
Authors: Luo Shuang , Yu Da‐Gang , Zhu Ru‐Yi , Wang Xin , Wang Lei , Shi Zhang‐Jie 
Published: December 2013

AbstractThe title reaction is proposed to proceed through a sequence of dehydroalkoxylation to form a vinyl intermediate, followed by Fe‐catalyzed selective carbometallation to form a benzylic Grignard reagent.
ChemInform Abstract: Transition Metal‐Free Sodium Borohydride Promoted Controlled Hydration of Nitriles to Amides.
Authors: Verma Praveen Kumar , Kumar Neeraj , Sharma Upendra , Bala Manju , Kumar Vishal , Singh Bikram 
Published: December 2013

AbstractAn efficient and sustainable process for the selective hydration of nitriles is developed which tolerates a variety of functional groups.
ChemInform Abstract: Mechanosynthesis of γ‐Nitro Dicarbonyl Compounds via CaCl2‐Catalyzed Michael Addition.
Authors: Jia Chunman , Chen Da , Zhang Chunyan , Zhang Qi , Cao Bennan , Zhao Zendong 
Published: December 2013

AbstractAn efficient strategy for the ball mill‐conducted mechanosynthesis of γ‐nitro dicarbonyl compounds is developed.
ChemInform Abstract: Phosphoramidate Tantalum Complexes for Room‐Temperature C—H Functionalization: Hydroaminoalkylation Catalysis.
Authors: Garcia Pierre , Lau Ying Yin , Perry Mitchell R. , Schafer Laurel L. 
Published: December 2013

AbstractA new catalytic hydroaminoalkylation reaction at room temperature using an easily prepared tantal complex is presented.
ChemInform Abstract: An Efficient Reverse Diels—Alder Approach for the Synthesis of N‐Alkyl Bismaleimides.
Authors: Rao Venkataramanarao , Navath Suryakiran , Kottur Mohankumar , McElhanon James R. , McGrath Dominic V. 
Published: December 2013

AbstractA simple strategy is developed to synthesize bismaleimides (IV) via alkylation of the Diels—Alder product (I) followed by a Retro‐Diels‐Alder reaction.
ChemInform Abstract: Asymmetric Addition of Cyanide to β‐Nitroalkenes Catalyzed by Chiral Salen Complexes of Titanium(IV) and Vanadium(V).
Authors: North Michael , Watson James M. 
Published: December 2013

AbstractA variety of aliphatic nitroalkenes is applied in the reaction to afford the products with high yields and enantioselectivities.
ChemInform Abstract: Novel Role of p‐Toluenesulfonamide in the Preparation of 4,5‐Diaminocyclopent‐2‐enones.
Authors: Liu Jinqian , Yu Jianjun , Zhu Mengyun , Li Jun , Zheng Xingzhou , Wang Limin 
Published: December 2013

AbstractA new protocol for the preparation of title compounds (III) via reaction of N‐tosylimines (I) with amines (II) is developed, in which p‐tosylamide acts as leaving group.
ChemInform Abstract: The First General Route for Efficient Synthesis of 18O Labelled Alcohols Using the HOF·CH3CN Complex.
Authors: Gatenyo Julia , Vints Inna , Rozen Shlomo 
Published: December 2013

AbstractA novel method for converting boronic acids (I) to alcohols (II) is developed using the acetonitrile complex of hypofluorous acid.
ChemInform Abstract: Iridium‐Catalyzed Synthesis of ω‐Hydroxy Homoallylic Alcohols.
Authors: Obora Yasushi , Sawaguchi Takuya , Tsubakimoto Keiko , Yoshida Hiroshi , Ogawa Shinji , Hatanaka Shintaro 
Published: December 2013

AbstractThe Ir‐catalyzed reaction of α,ω‐diols (I) with 1‐arylpropynes (II) affords title compounds (III) bearing alkyl chains of different lengths.
ChemInform Abstract: Novel Preparation of Chiral α‐Amino Acids Using the Mitsunobu—Tsunoda Reaction.
Authors: Noisier Anais F. M. , Harris Craig S. , Brimble Margaret A. 
Published: December 2013

AbstractThe Mitsunobu reaction of N‐protected amino acid ester (I) with alcohols (II) and (IV) in the presence of cyanomethylene tributylphosphorane affords desired non‐natural α‐amino acid derivatives (III) and (V), respectively.