bluuebunny/crossref_metadata_2025_split huggingface dataset:
The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case
Authors: Rodríguez Laura , Zollino Marcella , Climent Salvador , Mansilla Elena , López‐Grondona Fermina , Martínez‐Fernández María Luisa , Murdolo Marina , Martínez‐Frías María Luisa 
Published: June 2005

AbstractThe Wolf–Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures. The currently accepted WHS critical region (WHSCR) is localized between the loci D4S166 and D4S3327, where a deletion seems to generate all the clinical manifestations of the syndrome. Here we present a patient with a subtelomeric deletion of 4p16.3 showing growth and psychomotor delay with a typical WHS facial appearance and two episodes of seizures in conjunction with fever. The high‐resolution G‐banded karyotype was normal. Fluorescence in situ hybridization (FISH) with a set of cosmids from 4p16.3, showed that the deletion in this patient was from the D4S3327 to the telomere, enabling the size of the deletion to be estimated as 1.9 Mb, excluding the accepted WHSCR deletion. This patient supports the recent proposal by Zollino et al. [2003] that the critical region for WHS is located distally to the WHSCR between the loci D4S3327 and D4S98‐D4S16, and it is called “WHSCR‐2” [Zollino et al., 2003]. © 2005 Wiley‐Liss, Inc.
Characterization of six marker chromosomes by comparative genomic hybridization
Authors: Belloso J.M. , Caballín M.R. , Gabau E. , Baena N. , Vidal R. , Villatoro S. , Guitart M. 
Published: June 2005

AbstractWe applied comparative genomic hybridization (CGH) in six patients with de novo prenatal or postnatal extra marker chromosomes (MC). In four cases, MCs were mosaic and in one of them, the MC was detected in less than 50% of the cells. In three cases, CGH identified the origin of the extra MCs. In the other three, two prenatal cases and one child with an abnormal phenotype, CGH showed normal profiles. Among these cases, a normal profile and entirely C‐band positive was identified suggesting that MC did not contain euchromatin. Genetic imbalances detected by CGH were as follow: a gain of 8p10‐p12 in a boy with facial dysmorphism, hyperactivity and speech delay, a gain of 8q10‐q12 in a healthy man with a history of spontaneous abortions, and a gain of 15q11‐q13 in a girl with speech delay, and motor skill and object manipulation difficulties. Clinical data of these patients were compared with those reported in the literature. We conclude that CGH is a very useful and powerful tool for characterizing prenatal or postnatal MCs, even when the mosaicism is present and the MCs are present in less than 50% of the cells. © 2005 Wiley‐Liss, Inc.
CDG‐IL: An infant with a novel mutation in theALG9gene and additional phenotypic features
Authors: Weinstein Michael , Schollen Els , Matthijs Gert , Neupert Christine , Hennet Thierry , Grubenmann Claudia E. , Frank Christian G. , Aebi Markus , Clarke Joe T. R. , Griffiths Anne , Seargeant Lorne , Poplawski Nicola 
Published: June 2005

AbstractWe describe the second case of congenital disorder of glycosylation type IL (CDG‐IL) caused by deficiency of the ALG9 a1,2 mannosyltransferase enzyme. The female infant's features included psychomotor retardation, seizures, hypotonia, diffuse brain atrophy with delayed myelination, failure to thrive, pericardial effusion, cystic renal disease, hepatosplenomegaly, esotropia, and inverted nipples. Lipodystrophy and dysmorphic facial features were absent. Magnetic resonance imaging of the brain showed volume loss in the cerebral hemispheres and cerebellum and delayed myelination. Laboratory investigations revealed low levels of multiple serum proteins including antithrombin III, factor XI, and cholesterol. Hypoglycosylation was confirmed by the typical CDG type 1 pattern of serum transferrin analyzed by isoelectric focusing. A defect in the ALG9 enzyme was suggested by the accumulation of the DolPP‐GlcNAc2Man6 and DolPP‐GlcNAc2Man8 in the patient's fibroblasts and confirmed by mutation analysis: the patient is homozygous for theALG9mutation p.Y286C. The causal effect of the mutation was shown by complementation assays in alg9 deficient yeast cells. The child described here further delineates the clinical spectrum of CDG‐IL and confirms the significant clinical overlap amongst CDG subtypes. © 2005 Wiley‐Liss, Inc.
Fortschritte bei katalytischen enantioselektiven α‐Aminierungen und α‐Oxygenierungen von Carbonylverbindungen
Authors: Janey Jacob M. 
Published: June 2005

AbstractDie direkte Einführung eines Stickstoff‐ oder Sauerstoffatoms in Nachbarschaft zu einer Carbonylfunktion auf katalytische und enantioselektive Weise – sowohl durch chirale Lewis‐Säure‐ als auch Lewis‐Base‐Katalyse – wurde unlängst beschrieben. Die enantiomerenangereicherten Produkte dieser Reaktionen, unter anderem α‐Aminosäuren, bilden Grundbausteine für die Synthese komplexer Naturstoffe und anderer wichtiger bioaktiver Moleküle. Dieser Kurzaufsatz fasst das ständig wachsende Gebiet zusammen und weist auf einige offene Fragen hin.
Recent Advances in Catalytic, Enantioselective α Aminations and α Oxygenations of Carbonyl Compounds
Authors: Janey Jacob M. 
Published: June 2005

AbstractThe direct introduction of either a nitrogen or oxygen atom adjacent to a carbonyl group in a catalytic, enantioselective manner using both chiral Lewis acid and Lewis base catalysis has been described recently. The enantiomerically enriched products of these reactions, such as α‐amino acids, represent fundamental building blocks for the construction of complex natural products and other important bioactive molecules. This Minireview provides a synopsis of this ever‐growing field and highlights some of the challenges that still remain.
Numerische Modellierung von Holz und Verbindungselementen in Holz‐Beton‐Verbundkonstruktionen
Authors: Grosse Marco , Rautenstrauch Karl , Schlegel Roger 
Published: June 2005

AbstractDurch die Anwendung der FEM können auch komplexe Strukturen berechnet werden, die sich nicht mehr als Stab‐ oder Flächentragwerke abbilden lassen. Es ist daher naheliegend, auch das Tragverhalten von Bauteilen oder Bauteilkomponenten in Abhängigkeit von verschiedenen Einflußparametern mit Hilfe von FE‐Modellen zu simulieren. Um dabei aber Versagensmechanismen abbilden zu können, ist es notwendig, das Materialverhalten der Baustoffe im Nachbruchbereich zu berücksichtigen. Es wird ein konstitutives Materialmodell für den Werkstoff Holz vorgestellt, welches das räumlich anisotrope und vom Beanspruchungsmodus abhängige, nichtlineare Tragverhalten einbezieht. Durch die Kombination mit einem leistungsfähigen Betonmodell ist es möglich, Holz‐Beton‐Verbundkonstruktionen zu untersuchen. Anhand der Simulationen von Scherversuchen mit verschiedenen Schubverbindungselementen soll die Leistungsfähigkeit solcher numerischer Modelle verdeutlicht werden.
Industrial process proteomics: Alfalfa protein patterns during wet fractionation processing
Authors: Incamps Anne , Hély‐Joly Florence , Chagvardieff Pierre , Rambourg Jean‐Claude , Dedieu Alain , Linares Elodie , Quéméneur Eric 
Published: June 2005

AbstractA proteome reference map of major soluble proteins from Medicago sativa (alfalfa) leaves and stems has been established for the first time. Among 195 spots analyzed by mass spectrometry and N‐terminal Edman sequencing, 117 spots were unambiguously identified, representing 87 different proteins. Of these 87 proteins, 13 proteins were directly identified from the partial genome of Medicago sativa, 30 from expressed sequenced tags (ESTs) of the model legume Medicago truncatula and 44 from closely relative species by a cross‐species protein identification method. The proteome map of Medicago sativa was then set as a reference to study the major high protein content products that are generated during the wet fractionation process of alfalfa green biomass. Using two‐dimensional electrophoresis, we studied the variation of the protein patterns at different steps of the industrial‐scale process. We clearly show that the process induces significant changes including chemical modifications, proteolytic events, and heat‐shock protein responses. Strikingly, a certain level of cellular regulation is conserved during biomass processing, as exemplified by the induction of some heat shock proteins. Finally, all the results obtained in this proteomic study may help to identify novel products and to improve process designs in alfalfa biomass plants. © 2005 Wiley Periodicals, Inc.
Epi‐CHO, an episomal expression system for recombinant protein production in CHO cells
Authors: Kunaparaju Rajkumar , Liao Mimi , Sunstrom Noelle‐Anne 
Published: June 2005

AbstractThis study describes the development of a transient expression system for CHO cells based on autonomous replication and retention of transfected plasmid DNA. A transient expression system that allows extrachromosomal amplification of plasmids permits more plasmid copies to persist in the transfected cell throughout the production phase leading to a significant increase in transgene expression. The expression system, named Epi‐CHO comprises (1) a CHO‐K1 cell line stably transfected with the Polyomavirus (Py) large T (LT) antigen gene (PyLT) and (2) a DNA expression vector, pPyEBV encoding the Py origin (PyOri) for autonomous plasmid amplification and encoding Epstein‐Barr Virus (EBV) nuclear antigen‐1 (EBNA‐1) and OriP for plasmid retention. The CHO‐K1 cell line expressing PyLT, named CHO‐T was adapted to suspension growth in serum‐free media to facilitate large‐scale transient transfection and recombinant gene expression. Enhanced green fluorescent protein (EGFP) and human growth hormone (hGH) were used as reporter proteins to demonstrate transgene expression and productivity. Transfection of suspension‐growing CHO‐T cells with the vector pPyEBV encoding hGH resulted in a final concentration of 75 mg L−1 of hGH in culture supernatants 11 days following transfection. © 2005 Wiley Periodicals, Inc.
Critical influence of Eschscholzia californica cells nutritional state on secondary metabolite production
Authors: Lamboursain Laurence , Jolicoeur Mario 
Published: June 2005

AbstractIn this study, we investigated the influence of initial internal nutrient concentrations at the time of elicitation on the ability of Eschscholzia californica (EC) cells to produce alkaloids. Three EC cell suspensions cultivated in culture media differing in their PO and NO contents were sampled daily for 12 days and analyzed for extracellular and intracellular nutrient concentrations. The ability of the cells to produce alkaloids was tested along the three cell suspension cultures. Sampled cells were then further cultured for 7 days in a production medium containing the elicitor and an extraction resin. The alkaloid production of the cells was measured 7 days post‐elicitation. In the low‐N medium, starch, glucose, and phosphate contents in the biomass was increased by 470, 1624 and 70%, respectively, 10 days after inoculation compared to the control culture in standard B5 medium. Cell concentration was significantly reduced from 10.3 to 8.6 millions cell/mL on this low‐N medium compared to the control, nevertheless alkaloid production was multiplied by 39 at day 10 when cells were elicited. Cells grown on the low‐N or low‐P media accumulated 83% and 188% more carbon, respectively, than control cells at the end of the culture. This intracellular C was mainly stored in the form of starch in low‐P medium and both in the form of starch and glucose in the low‐N medium. The ability of EC cells to produce alkaloids upon elicitation was shown to be strongly dependent on the initial intracellular C and P content at the time of elicitation. This suggests that reproducibility and productivity during EC cell culture could be enhanced by manipulating the intracellular C and P content at the time of elicitation. © 2005 Wiley Periodicals, Inc.
Effects of protein–protein interaction in ultrafiltration based fractionation processes
Authors: Filipe Carlos DM , Ghosh Raja 
Published: June 2005

AbstractThis paper discusses the use of pulsed sample injection ultrafiltration (UF) for investigating protein–protein interaction, particularly its effect on protein transmission through UF membranes. Several binary protein mixtures were investigated; the proteins in each mixture being selected such that one of the proteins in the pair would be preferentially transmitted while the other would be either totally or substantially retained. The “retained” protein either decreased or increased or did not affect the sieving coefficient of the “transmitted” protein, this depending the type of protein–protein interaction, that is, associative, repulsive, or neutral. The type of protein–protein interaction depended on the particular protein pair under investigation as well as on the operating conditions used (pH and salt concentration). The magnitude of either decrease or increase in transmission of a preferentially transmitted protein due to the presence of a retained protein was found to be independent of the manner in which the proteins were injected into the system, that is, simultaneous or sequential. These magnitudes however correlated well with the ratio of the two proteins present in the feed. © 2005 Wiley Periodicals, Inc.
Detachment and emission of airborne bacteria in gas‐phase biofilm reactors
Authors: Zilli Mario , Camogli Gianluca , Nicolella Cristiano 
Published: June 2005

AbstractThree laboratory scale biofilters filled with different packing materials (peat and sieved sugarcane bagasse) and operating with different microbial cultures (allochthonous and autochthonous bacteria) were run and monitored in parallel to assess the emission rate of airborne bacteria in the biofiltration of benzene‐contaminated air streams. The effect of the fluid dynamic and loading conditions on the rate of microbial emission in the air environment was investigated by performing continuous experiments at different inlet benzene concentrations and superficial gas velocities. The experiments prove that the concentration of airborne bacteria in the effluent air from lab‐scale biofilters is only slightly higher than in the ambient air. The emission rate is not dependent on superficial gas velocity because of low shear stress exerted by the gas flow. On the other hand, the loading conditions have a strong effect on the emission rate, which increases with increasing growth and degradation rate, and different packing media show remarkably different behaviors. © 2005 Wiley Periodicals, Inc.
Integration of gene expression profiling and clinical variables to predict prostate carcinoma recurrence after radical prostatectomy
Authors: Stephenson Andrew J. , Smith Alex , Kattan Michael W. , Satagopan Jaya , Reuter Victor E. , Scardino Peter T. , Gerald William L. 
Published: June 2005

AbstractBACKGROUNDGene expression profiling of prostate carcinoma offers an alternative means to distinguish aggressive tumor biology and may improve the accuracy of outcome prediction for patients with prostate carcinoma treated by radical prostatectomy.METHODSGene expression differences between 37 recurrent and 42 nonrecurrent primary prostate tumor specimens were analyzed by oligonucleotide microarrays. Two logistic regression modeling approaches were used to predict prostate carcinoma recurrence after radical prostatectomy. One approach was based exclusively on gene expression differences between the two classes. The second approach integrated prognostic gene variables with a validated postoperative predictive model based on standard variables (nomogram). The predictive accuracy of these modeling approaches was evaluated by leave‐one‐out cross‐validation (LOOCV) and compared with the nomogram.RESULTSThe modeling approach using gene variables alone accurately classified 59 (75%) tissue samples in LOOCV, a classification rate substantially higher than expected by chance. However, this predictive accuracy was inferior to the nomogram (concordance index, 0.75 vs. 0.84, P = 0.01). Models combining clinical and gene variables accurately classified 70 (89%) tissue samples and the predictive accuracy using this approach (concordance index, 0.89) was superior to the nomogram (P = 0.009) and models based on gene variables alone (P < 0.001). Importantly, the combined approach provided a marked improvement for patients whose nomogram‐predicted likelihood of disease recurrence was in the indeterminate range (7‐year disease progression‐free probability, 30–70%; concordance index, 0.83 vs. 0.59, P = 0.01).CONCLUSIONSIntegration of gene expression signatures and clinical variables produced predictive models for prostate carcinoma recurrence that perform significantly better than those based on either clinical variables or gene expression information alone. Cancer 2005. © 2005 American Cancer Society.
Definitive surgery and multiagent systemic therapy for patients with localized Ewing sarcoma family of tumors
Authors: Krasin Matthew J. , Davidoff Andrew M. , Rodriguez‐Galindo Carlos , Billups Catherine A. , Fuller Christine E. , Neel Michael D. , Merchant Thomas E. 
Published: June 2005

AbstractBACKGROUNDThe local management of Ewing sarcoma family of tumors (ESFT) often centers on the surgical resectability of the primary lesion and physician biases regarding differences in the morbidity between primary surgical and radiotherapeutic management.METHODSThe authors retrospectively reviewed the records of 33 patients with localized ESFT who underwent surgery and received systemic chemotherapy at St. Jude Children's Research Hospital (Memphis, TN). Two multiagent systemic chemotherapy regimens were used: 14 patients received vincristine, doxorubicin, cyclophosphamide, and actinomycin D (VACA), and 19 received VACA in combination with ifosphamide and etoposide. The primary tumor was surgically resected via a wide, local excision (n = 32) or a marginal excision (n = 1)performed either at diagnosis or after 3–5 months of systemic chemotherapy. Clinical outcome and prognostic factors for disease control were reported in the current study.RESULTSThe median follow‐up for patients was 9.9 years. The 5‐year and 10‐year survival rates were 84.5% and 75.8%, respectively. At 5 years, the cumulative incidence of local disease recurrence was 12.5%, and the event‐free survival (EFS) rate was 71.7%. The same values were found at 10 years. The site of tumor origin was a significant predictor of EFS. The survival rate of patients whose tumors arose in bone was 78.6%, and the survival rate of patients whose tumors originated in soft tissue was 25.0% (P = 0.028). No other factors investigated were predictive of outcome.CONCLUSIONSLocal disease control and overall outcome for patients with ESFT managed by multiagent systemic therapy and surgery was excellent. Local disease control rates remained near 90% at 10‐year follow‐up. Patients with extraosseous primary sites of disease may fare less well with this approach to therapy. Cancer 2005. © 2005 American Cancer Society.
Screening and preventive behaviors one year after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma
Authors: Collins Veronica , Meiser Bettina , Gaff Clara , St. John D. James B. , Halliday Jane 
Published: June 2005

AbstractBACKGROUNDPrevention benefits from predictive genetic testing for cancer will only be fully realized if appropriate screening is adopted after testing. The current study assessed screening and preventive behaviors during 12 months after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma (HNPCC) in an Australian clinical cohort.METHODSParticipants received predictive genetic testing for HNPCC at one of five Australian familial cancer clinics. Data on self‐reported screening behaviors (colonoscopy, and endometrial sampling and transvaginal ultrasound for women) and prophylactic surgery (colectomy, and hysterectomy and bilateral oophorectomy for women) were collected using postal questionnaires before (baseline) and 12 months after receipt of genetic test results. Age, gender, perceived risk of cancer, and cancer‐specific distress were assessed as predictors of colonoscopic screening.RESULTSIn the current study, 114 participants returned baseline questionnaires (32 carriers and 82 noncarriers of an HNPCC mutation). Ninety‐eight participants also returned a 12‐month follow‐up questionnaire. Of those ≥ 25 years, 73% reported having had a colonoscopy before genetic testing. At follow‐up, 71% (15 of 25) of carriers and 12% (8 of 65) of noncarriers reported having a colonoscopy in the 12 months after receipt of test results. The reduction in colonoscopy among noncarriers was statistically significant (P < 0.001). High perceived risk was associated with colonoscopy at baseline. At follow‐up, mutation status was the only variable significantly associated with colonoscopy. Among female mutation carriers, 47% reported having transvaginal ultrasonography and 53% endometrial sampling during follow‐up. There was low uptake of prophylactic surgery for colorectal, endometrial, or ovarian carcinomas.CONCLUSIONSThe majority of individuals reported appropriate screening behaviors after predictive genetic testing for HNPCC. The small group of noncarriers who had screening after genetic testing might benefit from additional counseling. Cancer 2005. © 2005 American Cancer Society.
Texture Effects of Circularly Ordered Fibers
Authors: Marlow Frank , Kleitz Freddy , Wilczok Ursula , Schmidt Wolfgang , Leike Ines 
Published: June 2005

AbstractPowder samples can show pronounced texture effects in X‐ray scattering. Here, texture effects are described theoretically for circularly ordered fibers and shown experimentally for a special type of these fibers based on nanostructured silica. The systematic diffraction peak intensity dependences, observed with the tilting of the samples, fit well with the theoretical model proposed and can be used as an efficient detection method for circulite‐type mesopore organization. Our investigations clearly emphasize the difficulties encountered in the interpretation of peak intensities in the X‐ray scattering analyses because of pronounced texture effects.
Voltammetric Sizing of Inert Particles
Authors: Davies Trevor J. , Lowe Eleanor R. , Wilkins Shelley J. , Compton Richard G. 
Published: June 2005

AbstractThe average size of inert particles is determined using a simple electrochemical procedure. Alumina particles are deposited on an edge‐plane graphite electrode, and a cyclic voltammogram is recorded. The scan rate employed varies between 0.2 and 2 V s−1. At these scan rates the diffusion layer thickness is greater than the size of the alumina particles, minimizing the influence of the particles′ height on the observed voltammetry. The average size of the particles is determined via comparison of the experimental voltammograms with simulations.
Solvent‐Mediated Redox Transformations of Ytterbium Bis(indenyl)diazabutadiene Complexes
Authors: Trifonov Alexander A. , Fedorova Elena A. , Ikorskii Vladimir N. , Dechert Sebastian , Schumann Herbert , Bochkarev Mikhail N. 
Published: June 2005

AbstractThe reactions of diamagnetic [(C9H7)2Yb(THF)2] (2) and [rac‐(CH2‐1‐C9H6)2Yb(THF)2] (3) with tBuN=CH–CH=NtBu (DAD) in toluene result in the formation of the paramagnetic complexes [(C9H7)2Yb(DAD)] (4) and [rac‐(CH2‐1‐C9H6)2Yb(DAD)] (5), respectively. The IR, UV/Vis, and 1H NMR spectroscopic data, the magnetic properties, and the single‐crystal X‐ray diffraction studies of 4 and 5 indicate that in the solid state and in noncoordinating media both complexes are ytterbium(III) derivatives containing the DAD radical‐anion, whereas the 1H NMR and UV/Vis spectra of solutions of 4 and 5 in the coordinating solvent THF give evidence for divalent ytterbium. Recrystallization of 4 and 5 from THF/hexane results in the recovery of the starting ytterbium complexes 2 and 3 due to an unusual redox substitution of the radical anion of diazabutadiene by THF in the coordination sphere of ytterbium. (© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2005)