bluuebunny/crossref_metadata_2025_split huggingface dataset:
Copper‐Catalyzed Synthesis of 1,3‐Butadienylphosphine Oxides and Chemoselective Phosphoryl Reduction to Stereodefined 1,3‐Butadienylphosphines
Authors: Gatignol Jérémie , Alayrac Carole , Lohier Jean‐François , Ballester Jorge , Taillefer Marc , Gaumont Annie‐Claude 
Published: October 2013

AbstractCopper‐catalyzed CP cross‐coupling reactions between diphenylphosphine oxide and various 1‐bromo‐1,3‐butadienes readily provided a set of functionalized 1,3‐butadienyldiphenylphosphine oxides. Application of the latter to the synthesis of stereodefined 1,3‐butadienyldiphenylphosphines was successfully achieved via chemoselective reduction of their phosphoryl moiety.magnified image
Efficient Click‐Polymer‐Stabilized Palladium Nanoparticle Catalysts for Suzuki–Miyaura Reactions of Bromoarenes and Reduction of 4‐Nitrophenol in Aqueous Solvents
Authors: Deraedt Christophe , Salmon Lionel , Ruiz Jaime , Astruc Didier 
Published: October 2013

AbstractPalladium nanoparticles (size=1.6±0.3 nm) stabilized by a polyethylene glycol containing triazolyl rings, synthesized by click reaction in water, are efficient catalysts for the Suzuki–Miyaura coupling of bromoarenes in aqueous ethanol and the borohydride reduction of 4‐nitrophenol in water. Turnover numbers (TONs) reach 99,000 and turnover frequencies (TOFs) are up to 198,000 h−1 for the CC cross coupling reactions in water/ethanol.magnified image
Changes in the Structure of World Trade in the Agri‐Food Industry: The Impact of the Home Market Effect and Regional Liberalization From a Long‐Term Perspective, 1963–2010
Authors: Serrano Raúl , Pinilla Vicente 
Published: October 2013

ABSTRACTThis study examines the reasons for changes in the composition of international trade in agricultural and food products. We use a Gravity Model to compare the impact of the key factors in bilateral agri‐food trade, which we split into three main product groups following Rauch's classification of goods, between 1963 and 2010 for a representative sample of 40 countries. Our results show that the greater rhythm of growth in differentiated and reference priced products can be explained by the existence of the home market effect. Regional trade agreements have had an unequal impact on distinct product types, being especially important in the processed product markets. [JEL Classification: F14, N70, Q17]
A novel multidisciplinary approach toward a better understanding of cranial suture closure: The first evidence of genetic effects in adulthood
Authors: Wolff Katalin , Hadadi E. , Vas Z. 
Published: October 2013

ABSTRACTObjectivesThe primary objective of this study was to perform new, relevant information about cranial suture closure in adults. Single nucleotide polymorphisms (SNPs) in targeted genes were examined, which encode factors that play an important role in cranial suture development and maintenance. Our hypothesis was that some of these genes and polymorphisms can influence the cranial suture obliteration status in adulthood as well.MethodsOssification of cranial sutures was ascertained according to Meindl and Lovejoy's vault system (1985: Am J Phys Anthropol 68(1):57–66), and peripheral blood samples were collected during autopsy procedure of 106 individuals at the Department of Forensic and Insurance Medicine, Semmelweis University, Hungary. Genotyping of SNPs was conducted using competitive allele‐specific polymerase chain reaction KASPar chemistry. Multivariate linear models were used to test whether SNP polymorphism of the investigated genes has a significant effect on the ectocranial suture synostosis in adults.ResultsThe msh homeobox 1 (MSX1): rs3821947 polymorphism showed significant association with the extent of suture obliteration.ConclusionsCranial suture closure in adults is a complex, multifactorial process. According to previous results MSX1 has a role in calvarial bone development and it has an effect on sutural mesenchyme in latter postnatal stages. Our results demonstrate MSX1 effects on suture obliteration in adulthood. These findings represent new, relevant information indicating that genetic background can have an impact on cranial suture closure in adults. Am. J. Hum. Biol. 25:835–843, 2013. © 2013 Wiley Periodicals, Inc.
The hutterite variant of treacher collins syndrome: A 28‐year‐old story solved
Authors: Caluseriu Oana , Lowry Brian R. , McLeod Ross , Lamont Ryan , Parboosingh Jillian S. , Bernier Francois P. , Innes A. Micheil 
Published: October 2013

AbstractTreacher Collins syndrome (TCS), the best known form of mandibulofacial dysostosis (MFD) comprises a recognizable pattern of anomalies. In 1985, Lowry et al. reported on two Hutterite sisters born to apparently unaffected parents with TCS, raising the possibility of an autosomal recessive (AR) variant of TCS, subsequently given a unique Mendelian Inheritance of Man (MIM) number (248390). Recently, biallelic mutations in POLR1C were found in TCS patients, confirming AR TCS as a distinct entity. The Hutterites, an endogamous Anabaptist group, like other genetically isolated populations, provide a powerful resource for mapping AR disorders. We elected to study the molecular basis of TCS in the Hutterite population including the original kindred described in 1985, and another unrelated Hutterite patient. Prior to starting this study, a TCOF1 mutation had apparently been excluded in the original family at two outside institutions. We hypothesized that an AR variant of TCS was present in the three Hutterite patients, but homozygosity mapping did not show convincing evidence of shared regions between the affected individuals. TCOF1 analysis was undertaken and mutations were found in the three affected patients and an unaffected parent. These data show that the initial Hutterite family reported with AR TCS in fact has classic TCS due to a TCOF1 mutation, despite recent data confirming the existence of AR TCS in other populations. These results have significant counseling implications for the affected families in the Hutterite population and in the population at large. © 2013 Wiley Periodicals, Inc.
Polysomnographic findings in infantile Pompe disease
Authors: Kansagra Sujay , Austin Stephanie , DeArmey Stephanie , Kishnani Priya S. , Kravitz Richard M. 
Published: October 2013

AbstractInfantile Pompe disease is a rare, autosomal recessive disorder due to deficiency of the enzyme acid α‐glucosidase that degrades lysosomal glycogen. Clinical features of diffuse hypotonia, cardiomyopathy, and weakness are present within the first days to months of life in patients with classic infantile Pompe disease. Progression of the disease often leads to respiratory failure. Although sleep apnea is reported in late‐onset Pompe disease, sleep pathology is not well characterized in infantile disease. In this retrospective study, we analyzed nocturnal polysomnography results from 17 patients with infantile‐onset Pompe disease. Obstructive sleep apnea and hypoventilation were common among this cohort, even in those that did not have symptoms of sleep‐disordered breathing. All patients with infantile‐onset Pompe disease should undergo polysomnography as a routine part of their care. © 2013 Wiley Periodicals, Inc.
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
Authors: Gervasini Cristina , Russo Silvia , Cereda Anna , Parenti Ilaria , Masciadri Maura , Azzollini Jacopo , Melis Daniela , Aravena Teresa , Doray Bérénice , Ferrarini Alessandra , Garavelli Livia , Selicorni Angelo , Larizza Lidia 
Published: October 2013

AbstractWe report on the clinical and molecular characterization of eight patients, one male and seven females, with clinical diagnosis of Cornelia de Lange syndrome (CdLS), who were found to carry distinct mutations of the SMC1A gene. Five of the eight mutations are novel, with two involving amino acid residues previously described as altered in a different way. The other three have been reported each in a single case. Comparison of pairs of individuals with the same mutation indicates only partial overlap of their clinical phenotypes. The following novel missense mutations, all affecting highly conserved amino acid residues, were found: p.R398G in the N‐terminal coiled‐coil domain, p.V651M in the C‐terminal coiled‐coil/hinge junction, p.R693G in the C‐terminal coiled‐coil, and p.N1166T and p.L1189F in the C‐terminal ABC cassette. The latter is localized in the H‐loop, and represents the first mutation involving a functional motif of SMC1A protein. The effect of the mutations on SMC1A protein function has been predicted using four bioinformatic tools. All mutations except p.V651M were scored as pathogenic by three or four of the tools. p.V651M was found in the only male individual of our cohort, who presented with the most severe phenotype. This raises the issue of gender effect when addressing mutation‐phenotype correlation for genes such as SMC1A, which incompletely escapes X‐inactivation. Our clinical and molecular findings expand the total number of characterized SMC1A‐mutated patients (from 44 to 52) and the restricted repertoire of SMC1A mutations (from 29 to 34), contributing to the molecular and clinical signature of SMC1A‐based CdLS. © 2013 Wiley Periodicals, Inc.
GH Therapy and first final height data in Noonan‐like syndrome with loose anagen hair (Mazzanti syndrome)
Authors: Mazzanti Laura , Tamburrino Federica , Scarano Emanuela , Perri Annamaria , Vestrucci Benedetta , Guidetti Monica , Rossi Cesare , Tartaglia Marco 
Published: October 2013

AbstractNoonan‐like syndrome with loose anagen hair (NS/LAH or Mazzanti Syndrome) is caused by a single missense mutation in SHOC2 promoting tN‐myristoylation of the encoded protein. Cardinal features include facial features resembling NS, short stature often associated with proven growth hormone deficiency (GHD), typical ectodermal anomalies, and distinctive behavior. Overall, the clinical features are more severe than those generally observed in NS, even though the phenotype improves with age. We report on growth and pubertal trend in seven patients heterozygous for a mutated SHOC2 allele, treated with long‐term GH‐therapy, and final height (FH) in three of them. They were approximately −3 SDS below the Italian general population standards, they had very low IGF1 levels at baseline and GHD at pharmacological tests. All patients were treated with GH (0.035 mg/kg/day) for a mean period of 8.49 ± 5.72 years. After the 1st year of GH‐therapy, IGF1 level and height velocity had increased. Three of 7 patients reached the FH (−2.34 ± 0.12 SDS) at 18.25 ± 0.73 years, after GH administration for 12.39 ± 2.12 years. Pubertal development was variable, showing a prolonged and delayed puberty or rapid pubertal progression that could impair the FH. Overall, our data in this small cohort suggest that NS/LAH patients benefit from long‐term GH‐therapy, although they do not show the characteristic catch‐up growth of isolated GHD. While the observed growth and pubertal behavior is consistent with a dysfunction of the hypothalamic‐pituitary‐gonadal axis, the functional link between SHOC2 and the GH/IGF signaling pathways remains to be clarified. © 2013 Wiley Periodicals, Inc.
The XY gene hypothesis of psychosis: Origins and current status
Authors: Crow Timothy J. 
Published: October 2013

ABSTRACTSex differences in psychosis and their interaction with laterality (systematic departures from 50:50 left‐right symmetry across the antero‐posterior neural axis) are reviewed in the context of the X‐Y gene hypothesis. Aspects of laterality (handedness/cerebral asymmetry/the torque) predict (1) verbal and non‐verbal ability in childhood and across adult life and (2) anatomical, physiological, and linguistic variation relating to psychosis. Neuropsychological and MRI evidence from individuals with sex chromosome aneuploidies indicates that laterality is associated with an X‐Y homologous gene pair. Within each mammalian species the complement of such X‐Y gene pairs reflects their potential to account for taxon‐specific sexual dimorphisms. As a consequence of the mechanism of meiotic suppression of unpaired chromosomes <MSUC> such X‐Y gene pairs generate epigenetic variation around a species defining motif that is carried to the zygote with potential to initiate embryonic gene expression in XX or XY format. The Protocadherin11XY (PCDH11XY) gene pair in Xq21.3/Yp11.2 in probable coordination with a gene or genes within PAR2 (the second pseudo‐autosomal region) is the prime candidate in relation to cerebral asymmetry and psychosis in Homo sapiens. The lately‐described pattern of sequence variation associated with psychosis on the autosomes may reflect a component of the human genome's adjustment to selective pressures generated by the sexually dimorphic mate recognition system. © 2013 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by John Wiley and Sons, Ltd.
Methylenetetrahydrofolate reductase (MTHFR) genetic variation and major depressive disorder prognosis: A five‐year prospective cohort study of primary care attendees
Authors: Bousman Chad A. , Potiriadis Maria , Everall Ian P. , Gunn Jane M. 
Published: October 2013

AbstractMethylenetetrahydrofolate reductase (MTHFR) genetic variation has been associated with the diagnosis of major depressive disorder (MDD) but no study to date has examined the effect MTHFR variation has on MDD prognosis. We sought to examine the prospective effects of two common MTHFR variants (C677T and A1298C) as well as seven haplotype‐tagging single nucleotide polymorphisms (htSNPs) on MDD prognosis over a 5‐year (60‐month) period. Participants were 147 depressed primary care attendees enrolled in the Diagnosis, Management and Outcomes of Depression in Primary Care (diamond) prospective cohort study. Prognosis of MDD was measured using three methods: (1) DSM‐IV criteria, (2) Primary Care Evaluation of Mental Disorders Patient Health Questionnaire‐9 (PHQ‐9), and (3) Center for Epidemiologic Studies Depression Scale (CESD). DSM‐IV criteria for MDD was assessed using the Composite International Diagnostic Interview at baseline and 24, 36, 48, and 60 months post‐baseline; whereas, PHQ‐9 and CESD measures were employed at baseline and 12, 24, 36, 48, and 60 months post‐baseline. Repeated measures analysis of variance showed that PHQ‐9 symptom severity trajectories differed by C677T genotype (F = 3.34, df = 2,144, P = 0.038), with 677CC genotype showing the most severe symptom severity course over the 60 months of observation. Neither the A1298C polymorphism nor any of the htSNPs were associated with MDD prognosis regardless of measure used. Our results suggest that the MTHFR C677T polymorphism may serve as a marker for MDD prognosis pending independent replication. © 2013 Wiley Periodicals, Inc.
Copper‐Catalyzed N‐Alkynylation of N‐tert‐Butyloxycarbonyl (Boc)‐Protected Indoles
Authors: Song Jiahui , Wang Qingbo , Fu Haixing , Fu Songlin , Li Shaobin , Shi Feng , Wu Chunrui 
Published: October 2013

AbstractN‐Boc indoles undergo Cu‐catalyzed N‐alkynylation with alkynyl bromides after in situ deprotection. Potassium tert‐butoxide was used for the deprotection of substrates and as the base during the cross‐coupling stage. For substrates that contain a 2‐pyridyl group or similar, a phenathroline ligand was not needed. This serves as an alternative protocol for N‐alkynylation of indoles with a broader scope of substrates.
An Efficient Synthesis of Dibenzo[b,f]oxepins by Ring‐Closing Metathesis
Authors: Bharath Yada , Thirupathi Barla , Ranjit Gurram , Mohapatra Debendra K. 
Published: October 2013

AbstractDibenzo[b,f]oxepin scaffolds, which have been found in the Bauhinia plant family and have potent medicinal properties, have been prepared efficiently by a two‐step protocol that involves Ullmann‐type coupling and ring‐closing metathesis reactions.
Synthesis and Fluorescence Properties of Isatin‐Based Spiro Compounds: Switch off Chemosensing of Copper(II) Ions
Authors: Kundu Ashis , Pathak Sudipta , Pramanik Animesh 
Published: October 2013

AbstractA series of isatin‐based spiro compounds 2′,7′‐diamino‐2‐oxo‐1′,4′‐dihydrospiro[indoline‐3,4′‐quinoline]‐3′‐carbonitriles have been synthesized by heating mixtures of isatins, malononitrile, and meta‐phenylenediamine to reflux in ethanol. Some of the compounds have high fluorescence quantum yields (ΦF=ca. 0.8) and long fluorescence lifetimes (τ=ca. 9.0 ns) in the polar solvent acetone. The value of ΦF decreases with increasing polarity of the solvents in the sequence acetone, CH3CN, N,N‐dimethylformamide, and MeOH. All of the compounds fluoresce in a weak basic medium, such as triethylamine, but do not emit in acetic acid. Efficient and selective fluorescence quenching occurs for Cu2+ ions in solution through complexation, which can be used for detection of Cu2+ ions in the presence of several other metal ions. Preliminary studies show that these isatin‐based spiro compounds can be used as fluorescence probe for bioimaging of human squamous epithelium and peripheral blood mononuclear (PBM) cells and also for detecting Cu2+ ions in living cells.
Amination of meso‐Bromoporphyrins and 9‐Haloanthracenes with Diarylamines Catalyzed by a Palladium–PEPPSI Complex
Authors: Suzuki Yuko , Fukui Norihito , Murakami Kei , Yorimitsu Hideki , Osuka Atsuhiro 
Published: October 2013

AbstractPalladium‐catalyzed aminations of bulky aryl halides such as meso‐bromoporphyrins and 9‐haloanthracenes with diarylamines provided efficient syntheses of meso‐aminoporphyrins and 9‐aminoanthracenes. Commercially available and air‐stable Pd‐PEPPSI complexes that have N‐heterocyclic carbene (NHC) as ligands have the highest catalytic activities. The scope of diarylamines is wide enough to use diphenylamine, phenoxazine, phenothiazine, 9,10‐dihydroacrydine, and carbazole.
Brief communication: Cranial nonmetric trait database on the internet
Authors: Ossenberg Nancy Suzanne 
Published: October 2013

ABSTRACTThis brief note announces the publication of a nonmetric cranial trait database as a freely available resource on the Internet at: http://library.queensu.ca/webdoc/ssdc/cntd. The files were constructed in the program Excel, and are available also in comma‐delimited format. These one‐observer data on 38 traits were recorded in 1963–2003 in skeletal collections curated at many museums. The 8,016 crania represent individuals from a broad geographic and temporal range of recent human populations, with regions best represented being the Arctic and northwestern North America. Am J Phys Anthropol 152:551‐553, 2013. © 2013 Wiley Periodicals, Inc.
Treatment and outcomes of chronic rhinosinusitis in children with primary ciliary dyskinesia: where is the evidence? A qualitative systematic review
Authors: Mener David J. , Lin Sandra Y. , Ishman Stacey L. , Boss Emily F. 
Published: October 2013

BackgroundConsensus on treatment of chronic rhinosinusitis (CRS) in children with primary ciliary dyskinesia (PCD) is limited. We sought to synthesize the best available evidence pertaining to treatment and outcomes of CRS in children with PCD.MethodsThis work is a systematic review of PubMed and EMBASE for studies pertaining to treatment and outcomes of CRS in children with PCD in a 20‐year period. Two reviewers independently extracted information on study design, setting, medical or surgical therapy for CRS, and treatment outcomes.ResultsTwelve studies from 8 countries were included for analysis: (3 retrospective cohorts, 2 prospective cohorts, 2 cross‐sectional, 1 case series, and 4 case reports). The number of patients with PCD ranged from 1 to 78. Medical treatment included oral antibiotics, intranasal steroids, and oral steroids. Surgical treatment was mentioned in 8 studies, with endoscopic sinus surgery (ESS) described in 3 of 8. Outcome measures were rarely defined but included the 20‐item Sino‐Nasal Outcome Test (SNOT‐20) questionnaire (1/12), symptom questionnaire (1/12), decreased recurrent pneumonia (1/12), and subjective report of CRS symptoms. No randomized, controlled, or long‐term prospective cohort studies were identified, and no study employed a disease‐specific, pediatric‐validated instrument to measure outcomes of therapy.ConclusionThere is a paucity of evidence pertaining to CRS treatment or outcomes in children with PCD. Given the rare prevalence of PCD and the insufficient evidence pertaining to treatment effectiveness for CRS, we propose an international, multicenter database to prospectively track data pertaining to diagnosis, treatment, and outcomes of CRS for children with PCD. This effort would encourage implementation of validated and standardized outcome measures.
The effect of intranasal fluticasone propionate irrigations on salivary cortisol, intraocular pressure, and posterior subcapsular cataracts in postsurgical chronic rhinosinusitis patients
Authors: Man Li‐Xing , Farhood Zachary , Luong Amber , Fakhri Samer , Feldman Robert M. , Orlander Philip R. , Citardi Martin J. 
Published: October 2013

BackgroundIntranasal corticosteroid irrigations, especially budesonide, are used increasingly in the management of chronic rhinosinusitis. In post–endoscopic sinus surgery patients, irrigations may offer improved delivery at higher doses to the paranasal sinuses than intranasal spray preparations. Fluticasone propionate may have higher potency and lower systemic bioavailability than budesonide, but there is little data on its effects as an intranasal irrigation on the hypothalamic‐pituitary‐adrenal axis or on ocular findings.MethodsAdult patients who had previously undergone bilateral endoscopic sinus surgery and had not taken systemic corticosteroids in the last 6 months were prospectively enrolled. Subjects irrigated with 3 mg of fluticasone propionate in 240 mL saline solution twice daily. Salivary cortisol, intraocular pressure, and the presence of posterior subcapsular cataracts were measured before drug administration and after 6 weeks of continuous use.ResultsTwenty‐three subjects completed the study. No subjects had salivary cortisol levels below the normal range before or after therapy, and there was no statistical difference in mean salivary cortisol levels pretreatment and posttreatment (0.294 vs 0.392 μg/dL; p = 0.27). There was no clinical or statistical difference in mean intraocular pressure before or after therapy (13.3 vs 13.3 mmHg; p = 0.86). No subjects developed a posterior subcapsular cataract.ConclusionFluticasone propionate irrigations did not suppress salivary cortisol levels or result in ocular changes. Irrigation with fluticasone propionate 3 mg in 240 mL saline twice daily may be a safe alternative to other intranasal or systemic corticosteroid treatments for chronic rhinosinusitis patients.