bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
Authors: Renella Raffaele , Schaefer Elke , LeMerrer Martine , Alanay Yasemin , Kandemir Nurgun , Eich Georg , Costa Teresa , Ballhausen Diana , Boltshauser Eugen , Bonafé Luisa , Giedion Andres , Unger Sheila , Superti‐Furga Andrea 
Published: February 2006

AbstractEnchondromas are a feature of several constitutional disorders of bone, and the classification of different nosologic entities is still provisional. Among these disorders, spondyloenchondrodysplasia (SPENCD), as outlined by Schorr et al. [1976], is defined by the presence of radiolucent spondylar and metaphyseal lesions that represent persistence of islands of chondroid tissue within bone. Careful review of radiographic findings is needed to distinguish SPENCD from the many other disorders combining enchondromas with spinal lesions. Even when strict criteria are applied, it appears that SPENCD is clinically heterogeneous, as some SPENCD patients are neurologically intact while others present with spasticity, mental retardation, and cerebral calcifications in different combinations, and it has been suggested that SPENCD should be divided in two types. We herein report ten individuals from six families with SPENCD and illustrate the radiographic changes. Seven individuals had CNS manifestations including spasticity, developmental delay, and late‐onset cerebral calcifications. We also noted that six individuals had clinical manifestations of autoimmunity (auto‐immune thrombocytopenic purpura, auto‐immune hemolytic anemia, auto‐immune thyroiditis, and SLE) and one had been diagnosed with immune deficiency. Neurological and autoimmune manifestations were seen in different combinations within one single family. These observations suggest that SPENCD may be a single entity defined by specific radiographic features, but with remarkably pleiotropic manifestations that include CNS disease (spasticity, mental retardation, and calcifications), as well as immune dysregulation ranging from autoimmunity to immunodeficiency. The notion of recessive inheritance hitherto assumed is challenged by the observation of two apparently dominant pedigrees. © 2006 Wiley‐Liss, Inc.
Case of chromosome 6p25 terminal deletion associated with Axenfeld–Rieger syndrome and persistent hyperplastic primary vitreous
Authors: Suzuki Katsuhiro , Nakamura Makoto , Amano Emi , Mokuno Kumiko , Shirai Shoichiro , Terasaki Hiroko 
Published: February 2006

AbstractAxenfeld–Rieger syndrome is inherited in an autosomal dominant pattern and is characterized by anomalies of the anterior segment of the eye and systemic signs including craniofacial dysmorphic features and cardiac defects. The disorder is genetically heterogeneous and one causative gene, FOXC1, is located on chromosome 6p25. Persistent hyperplastic primary vitreous (PHPV) is a congenital ocular disorder in which there is a failure of the normal regression of the primary vitreous and a proliferation of fibrous tissue from the remnants of the primary vitreous. Deletions of chromosome 6p25 have been reported in a small number of patients with Axenfeld–Rieger syndrome; however, no case of chromosome 6p25 deletion has been reported with PHPV. We report a newborn girl who had both Axenfeld–Rieger syndrome and the combined type of PHPV, in whom the G‐banding and spectral karyotyping revealed a 6p monosomy of terminal deletion with a breakpoint at chromosome 6p25.1. The karyotype was 46,XX,del(6)(p25.1). We conclude that PHPV in the context of Axenfeld–Rieger syndrome can be caused by 6p25 terminal deletion. © 2006 Wiley‐Liss, Inc.
Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
Authors: Bækvad‐Hansen Marie , Tümer Zeynep , Delicado Alicia , Erdogan Fikret , Tommerup Niels , Larsen Lars A. 
Published: February 2006

AbstractFine mapping of chromosomal deletions and genotype–phenotype comparisons of clinically well‐defined patients can be used to confirm or reveal loci and genes associated with human disorders. Eleven patients with cytogenetically visible deletions involving the terminal region of chromosome 5q have been described, but the extent of the deletion was determined only in one case. In this study we describe a 15‐year‐old boy with Ebstein anomaly, atrial septal defect (ASD), atrioventricular (AV) conduction defect, and microcephaly. He had an apparently balanced paracentric inversion of chromosome 5, with the karyotype 46, XY,inv(5)(q13q35) de novo. Further mapping of the chromosome breakpoints using fluorescence in situ hybridization (FISH) revealed a 2.2 Mb microdeletion at the 5q35 breakpoint, which spans 16 genes, including the cardiac homeobox transcription factor gene NKX2‐5. The current data suggest that haploinsufficiency of NKX2‐5 cause Ebstein anomaly and support previous results showing that NKX2‐5 mutations cause ASD and AV conduction defect. Furthermore, we suggest presence of a new microcephaly locus within a 2.2 Mb region at 5q35.1–q35.2. © 2006 Wiley‐Liss, Inc.
Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11‐q13
Authors: Dennis N.R. , Veltman M.W.M. , Thompson R. , Craig E. , Bolton P.F. , Thomas N.S. 
Published: February 2006

AbstractWe present clinical data on 33 subjects with additional copies of the Prader‐Willi‐Angelman critical region (PWACR) contained in a supernumerary marker chromosome (SMC). Twenty‐three subjects had a typical large non‐mosaic SMC(15) containing two copies of the PWACR. They showed a variable but generally severe phenotype of learning disability and autism, with seizures in approximately two‐thirds. The other 10 differed from this typical pattern in respect of mosaicism, variation in copy number, or arrangement of the PWACR within the SMC or number of SMC per cell. Clinical severity increased with the number of additional copies of the PWACR and decreased with mosaicism for a normal cell line. There was a trend for a larger number of seizures to be associated with more severe learning disability. Three subjects with interstitial triplications of 15q11‐q13 showed a range of phenotypes similar to those of the typical large SMC(15). All additional copies of the PWACR in this series were maternally‐derived. FISH and molecular data localizing the breakpoints of the rearrangements have been previously published or are included in this report. No correlations were found between specific clinical features and variations in breakpoints proximal and distal to the PWACR. © 2006 Wiley‐Liss, Inc.
Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences
Authors: Tzschach Andreas , Krause‐Plonka Ines , Menzel Corinna , Kalscheuer Vera , Toennies Holger , Scherthan Harry , Knoblauch Andreas , Radke Michael , Ropers Hans‐Hilger , Hoeltzenbein Maria 
Published: February 2006

AbstractWe report a $2{3 \over {12}}$‐year‐old boy with a constitutional interstitial deletion of 5q,46,XY,del(5)(q23.3q31.2) de novo. Clinical manifestations in this patient included failure to thrive, psychomotor retardation, mild facial dysmorphic features, and long and slender fingers and toes. The precise location and extent (9.5 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 19 YAC and BAC clones. Comparison of the present patient with six other patients with deletions of chromosomal bands 5q22–5q31 allowed further delineation of a constitutional del5q22q31 syndrome. The main features of this syndrome are psychomotor retardation, failure to thrive, hypotonia, hypoplastic muscles, cleft or high arched palate, low‐set and dysplastic ears, flat nasal bridge, downslanting palpebral fissures, hypertelorism, anteverted nostrils, and micro‐ and/or retrognathia. © 2006 Wiley‐Liss, Inc.
Primary palmar hyperhidrosis locus maps to 14q11.2‐q13
Authors: Higashimoto Ikuyo , Yoshiura Koh‐ichiro , Hirakawa Naomi , Higashimoto Ken , Soejima Hidenobu , Totoki Tadahide , Mukai Tsunehiro , Niikawa Norio 
Published: February 2006

AbstractPrimary palmar hyperhidrosis (PPH) is a unique disorder of unknown cause. It is characterized by excessive perspiration of the eccrine sweat gland in the palm, sole, and the axilla. It is presumed that PPH results from overactivation of the cholinergic sympathetic nerve or dysfunction of the autonomic nervous system. There have been no genetic studies on the disease. We performed a linkage analysis of 11 families including 42 affected and 40 unaffected members using genome‐wide DNA polymorphic markers to identify the disease locus. Diagnosis of their PPH was made by direct inspection, interviewing and measurement of the sweating rate with perspirometer. Consequently, from data of three of the 11 families examined, the combined maximum two‐point LOD scores of 3.08 and 3.16 (recombination fraction = 0) were obtained at the D14S283 and D14S264 loci, respectively, on chromosome 14q11.2‐q13, under an assumption that two liability conditions depend on age. These regions were ruled out in eight other families. Haplotype analysis of the three families supported that one of the PPH locus is assigned at minimum to about a 6‐cM interval between D14S1070 and D14S990 and at maximum to about a 30‐cM interval between D14S1070 and D14S70. This is the first report of systemic mapping of the PPH locus. © 2006 Wiley‐Liss, Inc.
Using screening walls and advance waivers to manage mediation conflicts of interest
Authors: Lurie Paul M. 
Published: February 2006

AbstractHow can you be a mediator in a law firm without losing business down the road? Paul M. Lurie, of Chicago, analyzes the tough conflicts issues, and proposes setting up a screen, and getting a waiver, from prospective mediation clients. And he provides a clause form that he uses for incorporation into mediation retainer agreements.
Mediation matters: States, insurers focus on ADR for Katrina relief
Authors: Bleemer Russ 
Published: February 2006

AbstractDetails on the role alternative dispute resolution will play in the recovery from Hurricanes Katrina and Rita in the deep south. Calls for deploying ADR have been answered: Two states have hired the American Arbitration Association to conduct mediation facilities for homeowners' claims, and a third will set up a similar program. At the same time, two large insurers have enlisted 9/11 victims fund special master Kenneth Feinberg to administer their mediation efforts. One of the company programs will focus on mediating commercial claims.
Harmonisierter Leitfaden für die Validierung von Analysenmethoden durch Einzellaboratorien
Authors: Steck Werner 
Published: February 2006

AbstractDie Validierung einer Methode ist eine der Maßnahmen, die allgemein als notwendiger Bestandteil eines umfassenden Qualitätssicherungssystems in der analytischen Chemie angesehen werden. In der Vergangenheit haben ISO, IUPAC und AOAC INTERNATIONAL zusammengearbeitet, um gegenseitig anerkannte Empfehlungen zur Gestaltung, Durchführung und Interpretation von Untersuchungen zur Leistungsfähigkeit analytisch‐chemischer Methoden,1 für Eignungstests (proficiency testing, PT) von (chemisch‐)analytischen Laboratorien,2 zur internen Qualitätskontrolle in analytisch‐chemischen Laboratorien3 und zur Verwendung von Wiederfindungsdaten bei analytischen Messungen4 zu erstellen. Die Arbeitsgruppe, die all diese Empfehlungen verfasst hat, wurde anschließend von der IUPAC beauftragt, Leitfäden für die Validierung von Analysenmethoden durch Einzellaboratorien zu erstellen. Diese Leitfäden bieten Mindestempfehlungen für Maßnahmen, die im Interesse einer adäquaten Validierung von Analysenmethoden durchgeführt werden sollten. (Generelle Vorbemerkung des Übersetzers: In vielen Texten, so auch hier, wird der Ausdruck “Unsicherheit” manchmal ohne genauen Bezug verwendet. Bei der reinen Messunsicherheit handelt es sich um die Wiederholbarkeitsstreuungen (Reproduzierbarkeit) von Messungen einer bestimmten chemisch vorbereiteten Probe, die hintereinander vermessen wird; diese zufällige Unsicherheit des eigentlichen Messvorganges wird charakterisiert durch den Schätzwert s für die Standardabweichung σ. Beim Vermessen von Parallelproben (run) kommen noch weitere Fehlerquellen hinzu, z. B. unzureichende Probenhomogenität, Aliquotisierungsfehler (unsaubere Pipetten) oder leicht unterschiedliche Behandlung. “Run‐to‐run”‐Fehler können durch den Wechsel des Reagentien‐Loses oder eine neue Kalibrierung vor jeder Messserie ausgelöst werden. Alle diese Fehlerquellen haben einen rein zufälligen, statistisch bedingten Anteil und einen variablen, systematischen Fehler aus den unterschiedlichsten Gründen. In die kombinierte Ergebnisunsicherheit gehen alle bekannten Fehler nach den Gesetzen der Fehlerfortpflanzung ein, also vor allem auch Matrixeffekte und Kalibrierungsfehler (einschließlich Auswertefehler durch ungenaue Algorithmen), aber auch die Probenrepräsentanz und ‐homogenität. Die Ergebnisunsicherheit muss daher stets größer sein als die reine Messunsicherheit des eigentlichen Messvorgangs. In bestimmten Fällen gehört zum analytischen Messergebnis aber auch eine professionelle Abschätzung der Probenrepräsentanz.)
Polymerization of methyl methacrylate using bis(β‐ketoamino)nickel(II)–MAO catalytic systems
Authors: He Xiaohui , Wu Qing 
Published: February 2006

AbstractThe polymerization of methyl methacrylate (MMA) was investigated using a series of bis(β‐ketoamino)nickel(II) complexes in combination with methylaluminoxane in toluene solution. The binary catalyst is necessary for initiating MMA polymerization and producing PMMA with high molecular weights but broad molecular weight distributions. The effects of reaction temperature and Al:Ni molar ratios on the polymerization of MMA were examined in detail. Both steric bulk and electronic effects of the substituents around the imino group in the ligand on MMA polymerization activities could be observed. Relative to electronic effects, the steric hindrance of the ligands displayed a more significant effect on the catalytic activities, with the catalytic activity sequence observed in the order 4 > 1 > 2 > 3 > 5 > 6. Structural analyses of the polymers by 13C NMR spectra indicate that polymerization yields PMMA with a syndiotactic‐rich atactic microstructure. Copyright © 2006 John Wiley & Sons, Ltd.
Novel crosslinked nonlinear optical materials based on cellulose diacetate
Authors: Zhou Limin , Xu Qiang , Wang Dening 
Published: February 2006

AbstractPreparation of second‐order nonlinear optical (NLO) materials based on cellulose diacetate and melamine derivatives was attempted. The NLO chromophore DR19 was incorporated into the crosslinking network resulting from the reaction of cellulose diacetate with trimethylolmelamine or hexamethylolmelamine. The poled and cured NLO materials exhibited electrooptic coefficient (r13) values of 1.11 or 1.03 pm/V, respectively, at a laser wavelength of 1550 nm, a modulation frequency of 12.7 kHz. The r13 values decreased to 80 or 81.5% of the initial values after 4 days. The laser transmission loss was 0.50 or 0.44 db. The crosslinking materials showed better temporal stability than that of host/guest type materials, and 73% of the initial r13 value remained after keeping the NLO film at 100°C for 15 h. No evident weight loss was found below 250°C. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 2832–2837, 2006
Identification of nucleation loci in emulsion polymerization processes. II. A systematic study of liquid–liquid emulsions
Authors: Shastry Vineet , Garcia‐Rubio L. H. 
Published: February 2006

AbstractIdentification of the main nucleation sites and characterizing them in terms of their size and composition is prime objective of this research effort. Different nucleation sites have been proposed as the most likely nucleation sites by various researchers. Recent advances in the development of the spectroscopic techniques enable comprehensive characterization of the emulsion at the beginning of the reaction. In this paper, we present the experimental evidence of the existence of a previously unidentified nano‐droplet population of size range 30 to 100 nm in diameter using spectroscopy. Presence of about seventy to eighty percent of the dispersed phase in the nano‐droplet population and large interfacial area make them the most probable particle nucleation loci in emulsion polymerization processes. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 2858–2866, 2006
Grafting of poly(methyl methacrylate) or polyacrylonitrile onto polystyrene using ATRP technique
Authors: Tizpar Salamat , Abbasian Mojtaba , Taromi Faramarz Afshar , Entezami Ali Akbar 
Published: February 2006

AbstractOne of the most useful methods for synthesizing the graft and well‐defined copolymers is the atom transfer radical polymerization (ATRP) method. The polymerization was initiated by polystyrene (PS) carrying chloroacetyl groups as macroinitiator, in the presence of copper chloride (CuCl) and bipyridine (bpy). The macroinitiator (chloroacetylated PS) was prepared by successive chloroacetylation of PS under mild conditions and these reaction conditions overcome the problem of gelation and crosslinking in polymers. Successful graft copolymerizations were performed with methyl methacrylate (MMA) in toluene at 80°C and with acrylonitrile (AN) in tetrahydrofuran/ethylenecarbonate (62.5/37.5 v/v %) mixed solvent at 55°C. The characterization of the copolymers was investigated by 1H‐NMR and FT‐IR spectroscopices. Gel permeation chromatography measurement indicated an increase of the molecular weight of the graft copolymers, as compared to that of the macroinitiator. This measurement also indicated the monomodal molecular weight distribution. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 2619–2627, 2006
Kinetic analysis of curing behavior of diglycidyl ether of bisphenol A with imidazoles using differential scanning calorimetry techniques
Authors: Ghaemy M. , Sadjady S. 
Published: February 2006

AbstractThe curing kinetics and mechanisms of diglycidyl ether of bisphenol A (DGEBA) using imidazole (H‐NI) and 1‐methyl imidazole (1‐MI) as curing agents are studied with differential scanning calorimetry (DSC) under isothermal (90–120°C) and dynamic conditions (50–250°C). The isothermal DSC thermograms of curing DGEBA with H‐NI and 1‐MI curing agents show two exothermic peaks. These peaks are assigned to the processes of adduct formation and etherification. These results indicate that there is no difference in the initiation mechanism of 1‐unsubstituted (H‐NI) and 1‐substituted (1‐MI) imidazoles in the curing reaction with epoxy resin. A kinetic analysis is performed using different kinetic models. The activation energies obtained from DSC scanning runs using the Ozawa and Kissinger methods are similar and in the range of 75–79 and 76–82 kJ/mol for DGEBA/H‐NI and DGEBA/1‐MI systems, respectively. These values compare well with the activation energies obtained from isothermal DSC experiments using the autocatalytic method (74–77 kJ/mol). © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 2634–2641, 2006
Sorption studies of propylene in polypropylene. Diffusivity in polymer particles formed by different polymerization processes
Authors: Patzlaff M. , Wittebrock A. , Reichert K. ‐H. 
Published: February 2006

AbstractPropylene was polymerized in gas phase and liquid phase by using a novel nonporous Ziegler–Natta‐catalyst system. The polymer particles formed at different polymerization times were used for sorption measurements. In both cases it was found that the effective diffusion coefficient is increasing with increasing size of polymer particles and the effective diffusion coefficients of polymer particles formed by liquid‐phase polymerization are larger than those of polymer particles produced by gas‐phase polymerization. The effective diffusion coefficients of polymer particles are in the range of 2 × 10−11 to 1.6 × 10−10 m2/s with activation energies from 34 to 22 kJ/mol. The analyzed polymer particles have average diameters between 250 and 875 μm. The solubility of propylene in polypropylene particles can be described by the law of Henry at conditions studied. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 2642–2648, 2006
Alkylated phenolic resins as antioxidants for rubber
Authors: Malshe V. C. , Elango S. , Rane Shilpa 
Published: February 2006

AbstractPolymeric antioxidants based on p‐nonyl phenol formaldehyde resin (PNPF) and p‐dodecyl phenol formaldehyde resin (PDPF) were prepared by the condensation reaction of the respective phenols with formaldehyde in the presence of an acid catalyst. The reactions were monitored by thin layer chromatography, and the melting points of the products were determined. These compounds were incorporated in natural rubber mixes to evaluate their antioxidant properties. The compounded mixes were characterized for their rheometric properties. The compression‐molded rubber sheets were tested for their mechanical properties. The effects of aging on the mechanical properties of these molded sheets were evaluated. Both PNPF and PDPF showed better antioxidant properties than the conventional styreneated phenol antioxidant. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 2649–2651, 2006
Synthesis and characterization ofN‐acryloylcarbazole/methyl methacrylate copolymers
Authors: Singh Pravin Kumar , Brar Ajaib Singh 
Published: February 2006

AbstractCopolymers ofN‐acryloylcarbazole (A) and methyl methacrylate (M) were synthesized in different in‐feed ratios. The composition of the copolymer was determined by the help of1H NMR spectrum. The comonomer reactivity ratios determined by Kelen‐Tudos (KT) and nonlinear error‐in‐variables methods wererA= 1.12 ± 0.16,rM= 0.94 ± 0.14, andrA= 1.05,rM= 0.90, respectively. Complete spectral assignments of the1H and13C1H NMR spectra of the copolymers were done by the help of distortionless enhancement by polarization transfer (DEPT) and two‐dimensional NMR techniques, such as heteronuclear single quantum coherence (HSQC), total correlation spectroscopy (TOCSY), and heteronuclear multiple bond correlation (HMBC). The methine, α‐methyl, and carbonyl carbon resonances were found to be sequence sensitive. The signals obtained were broad because of the restricted rotation of bulky carbazole group and the quadrupolar effect of nitrogen present in carbazole moiety. Glass transition temperatures (Tg) were determined by differential scanning calorimetry and were found to be characteristic of copolymer composition. As theN‐acryloylcarbazole content increases, theTgincreases from 378.3 K for poly(methyl methacrylate) to 430.4 K for poly(N‐acryloylcarbazole). Variation inTgwith the copolymer composition were found to be in good agreement with theoretical values obtained from Johnston and Barton equations. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 2667–2676, 2006
Synthesis and hydrophilicity of poly(butylene 2,6‐naphthalate)/poly(ethylene glycol) copolymers
Authors: Son Jun Sik , Ji Dong Sun 
Published: February 2006

AbstractPoly(butylene 2,6‐naphthalate) (PBN)/poly(ethylene glycol) (PEG) copolymers were synthesized by the two‐step melt copolymerization process of dimethyl‐2,6‐naphthalenedicarboxylate (2,6‐NDC) with 1,4‐butanediol (BD) and PEG. The copolymers produced had different PEG molecular weights and contents. The structures, thermal properties, and hydrophilicities of these copolymers were studied by 1H NMR, DSC, TGA, and by contact angle and moisture content measurements. In particular, the intrinsic viscosities of PBN/PEG copolymers increased with increasing PEG molecular weights, but the melting temperatures (Tm), the cold crystallization temperatures (Tcc), and the heat of fusion (ΔHf) values of PBN/PEG copolymers decreased on increasing PEG contents or molecular weights. The thermal stabilities of the copolymers were unaffected by PEG content or molecular weight. Hydrophilicities as determined by contact angle and moisture content measurements were found to be significantly increased on increasing PEG contents and molecular weights. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 2677–2683, 2006