bluuebunny/crossref_metadata_2025_split huggingface dataset:
Quantification of Grafting Densities Achieved via Modular “Grafting‐to” Approaches onto Divinylbenzene Microspheres
Authors: Nebhani Leena , Schmiedl Detlef , Barner Leonie , Barner‐Kowollik Christopher 
Published: May 2010

AbstractThe surface modification of divinylbenzene (DVB)‐based microspheres is performed via a combination of reversible addition fragmentation chain transfer (RAFT) polymerization and rapid hetero‐Diels–Alder (HDA) chemistry with the aim of quantifying the grafting densities achieved using this “grafting‐to” method. Two variants of the RAFT‐HDA concept are employed to achieve the functionalization of the microspheres. In the first approach, the microspheres are functionalized with a highly reactive diene, i.e., cyclopentadiene, and are subsequently reacted with polystyrene chains (number‐averaged molecular weight, Mn = 4200 g mol−1; polydispersity index, PDI = 1.12.) that carry a thiocarbonyl moiety functioning as a dienophile. The functionalization of the microspheres is achieved rapidly under ambient conditions, without the aid of an external catalyst. The surface grafting densities obtained are close to 1.2 × 1020 chains per gram of microspheres. In the second approach, the functionalization proceeds via the double bonds inherently available on the microspheres, which are reacted with poly(isobornyl acrylate) chains carrying a highly dienophilic thiocarbonyl functionality; two molecular weights (Mn = 6000 g mol−1, PDI = 1.25; Mn = 26 000 g mol−1, PDI = 1.26) are used. Due to the less reactive nature of the dienes in the second approach, functionalization is carried out at elevated temperatures (T = 60 °C) yet in the absence of a catalyst. In this case the surface grafting density is close to 7 chains nm−2 for Mn = 6000 g mol−1 and 4 chains nm−2 for Mn = 26 000 g mol−1, or 2.82 × 1019 and 1.38 × 1019 chains g−1, respectively. The characterization of the microspheres at various functionalization stages is performed via elemental analysis for the quantification of the grafting densities and attenuated total reflectance (ATR) IR spectroscopy as well as confocal microscopy for the analysis of the surface chemistry.
The Role of Transition Metal Oxides in Charge‐Generation Layers for Stacked Organic Light‐Emitting Diodes
Authors: Hamwi Sami , Meyer Jens , Kröger Michael , Winkler Thomas , Witte Marco , Riedl Thomas , Kahn Antoine , Kowalsky Wolfgang 
Published: May 2010

AbstractThe mechanism of charge generation in transition metal oxide (TMO)‐based charge‐generation layers (CGL) used in stacked organic light‐emitting diodes (OLEDs) is reported upon. An interconnecting unit between two vertically stacked OLEDs, consisting of an abrupt heterointerface between a Cs2CO3‐doped 4,7‐diphenyl‐1,10‐phenanthroline layer and a WO3 film is investigated. Minimum thicknesses are determined for these layers to allow for simultaneous operation of both sub‐OLEDs in the stacked device. Luminance–current density–voltage measurements, angular dependent spectral emission characteristics, and optical device simulations lead to minimum thicknesses of the n‐type doped layer and the TMO layer of 5 and 2.5 nm, respectively. Using data on interface energetic determined by ultraviolet photoelectron and inverse photoemission spectroscopy, it is shown that the actual charge generation occurs between the WO3 layer and its neighboring hole‐transport material, 4,4',4”‐tris(N‐carbazolyl)‐triphenyl amine. The role of the adjacent n‐type doped electron transport layer is only to facilitate electron injection from the TMO into the adjacent sub‐OLED.
Synthesis, Functionalization, and Biomedical Applications of Multifunctional Magnetic Nanoparticles
Authors: Hao Rui , Xing Ruijun , Xu Zhichuan , Hou Yanglong , Gao Song , Sun Shouheng 
Published: May 2010

AbstractSynthesis of multifunctional magnetic nanoparticles (MFMNPs) is one of the most active research areas in advanced materials. MFMNPs that have magnetic properties and other functionalities have been demonstrated to show great promise as multimodality imaging probes. Their multifunctional surfaces also allow rational conjugations of biological and drug molecules, making it possible to achieve target‐specific diagnostics and therapeutics. This review first outlines the synthesis of MNPs of metal oxides and alloys and then focuses on recent developments in the fabrication of MFMNPs of core/shell, dumbbell, and composite hybrid type. It also summarizes the general strategies applied for NP surface functionalization. The review further highlights some exciting examples of these MFMNPs for multimodality imaging and for target‐specific drug/gene delivery applications.
14q32/miRNA Clusters loss of heterozygosity in acute lymphoblastic leukemia is associated with up‐regulation of BCL11a
Authors: Agueli Cecilia , Cammarata Giuseppe , Salemi Domenico , Dagnino Lea , Nicoletti Roberta , La Rosa Maria , Messana Francesca , Marfia Anna , Bica Maria Grazia , Coniglio Maria Luisa , Pagano Maria , Fabbiano Francesco , Santoro Alessandra 
Published: May 2010

AbstractThis study evaluated the loss and expression level of miRNAs 14q32 clusters in acute lymphoblastic leukemia (ALL) patients with cryptic deletions at 14q32 chromosomal band to investigate their involvement in this disease. We demonstrate that a subset of ALL cases bearing 14q32 LOH showed a down‐regulation of miRNA 14q32 clusters, which is directly linked to the submicroscopic chromosomal deletion. As a consequence of miRNAs deregulation we reported an inverse correlation with the expression of their target BCL11a, a transcription factor involved in lymphoid differentiation. These results suggest that 14q32/miRNA clusters LOH may be another mechanism involved in lymphoid B cell transformation and differentiation and therefore, could be used as a diagnostic marker and therapeutic target in subsets of ALL. Am. J. Hematol., 2010. © 2010 Wiley‐Liss, Inc.
Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in Connecticut
Authors: Lee Kyoung‐Mu , Baris Dalsu , Zhang Yawei , Hosgood H. Dean , Menashe Idan , Yeager Meredith , Zahm Shelia Hoar , Wang Sophia S. , Purdue Mark P. , Chanock Stephen , Zheng Tongzhang , Rothman Nathaniel , Lan Qing 
Published: May 2010

AbstractIn light of the relationship between immune system dysregulation and multiple myeloma (MM) risk, we investigated whether genetic variation in 92 immune function genes among 77 gene regions are associated with MM susceptibility in a population‐based case‐control study (108 cases and 482 controls) conducted among Caucasian women in Connecticut. Tagging single‐nucleotide polymorphisms (SNPs; N = 870) were selected using a pairwise linkage‐disequilibrium based algorithm. Odds ratios (ORs) and 95% confidence intervals (CIs) for SNP genotypes were estimated using unconditional logistic regression. Tests of association for gene regions were conducted using the minP test. We applied the false discovery rate (FDR) method to the minP test results as a means of controlling for multiple comparisons. The CD4 gene region located on 12p13‐q13 (minP = 0.0009), had an FDR value <0.1. In this region, a total of six tag SNPs in two genes (CD4 and LAG3) were significantly associated with MM risk (Ptrend<0.05), with the strongest association observed for the CD4 variant rs11064392 (ORAG/GG = 2.53, 95% CI = 1.59–4.02). Our findings suggest that genetic variation in CD4 may influence susceptibility to MM. Additional studies are needed to replicate these findings and, more generally, to explore the manner in which genes and receptors may influence the pathogenesis of this poorly understood malignancy. Am. J. Hematol., 2010. © 2010 Wiley‐Liss, Inc.
Long term follow‐up of allogeneic stem cell transplantation in patients with myelodysplastic syndromes using busulfan, cytosine arabinoside, and cyclophosphamide
Authors: Atallah Ehab , Abrams Judith , Ayash Lois , Bentley Gail , Abidi Muneer , Ratanatharathorn Voravit , Uberti Joseph 
Published: May 2010

AbstractWe report here the 10‐year follow‐up of 86 patients who underwent allogeneic stem cell transplantation (ASCT) for myelodysplastic syndrome (MDS). All patients received the busulfan, cytosine arabinoside, and cyclophosphamide (BAC) preparative regimen which consisted of busulfan 16 mg/kg, cytosine arabinoside 8 g/m2 IV, and cyclophosphamide 120 mg/kg IV. Fifty‐nine patients (69%) had de novo MDS; 26 (30%) had secondary MDS (treatment related), and one had a preceding aplastic anemia which progressed to MDS before transplant. Cytogenetics (80 patients) was classified as good (34%), intermediate (17%), or poor (42%). With a median follow‐up for survivors of 124 months, the 10‐year Kaplan‐Meier estimates for overall survival (OS) was 43% (95% confidence interval [CI]: 31–53%). Cumulative nonrelapse mortality (NRM) and relapse was 43% (95% CI: 32–54%) and 19% (95% CI: 11–27%), respectively. No patient relapsed after 2 years. In patients with RAEB‐T/AML, 10‐year relapse‐free survival (RFS), relapse, and NRM was 36%, 36%, and 27%, respectively. Younger age (P = 0.05), human leukocyte antigen (HLA) match (P = 0.002), good risk cytogenetics (P = 0.008), and having a related donor (P = 0.03) significantly improved overall and RFS in the multivariable analysis. The long‐term follow‐up of patients receiving the BAC regimen with ASCT in this study indicated durable relapse‐free and OS with acceptable toxicity in this group of patients with high‐risk features. Am. J. Hematol., 2010. © 2010 Wiley‐Liss, Inc.
Chediak–Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1
Authors: Manoli Irini , Golas Gretchen , Westbroek Wendy , Vilboux Thierry , Markello Thomas C. , Introne Wendy , Maynard Dawn , Pederson Ben , Tsilou Ekaterini , Jordan Michael B. , Hart P. Suzanne , White James G. , Gahl William A. , Huizing Marjan 
Published: May 2010

AbstractChediak–Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by variable oculocutaneous albinism, immunodeficiency, mild bleeding diathesis, and an accelerated lymphoproliferative state. Abnormal lysosome‐related organelle membrane function leads to the accumulation of large intracellular vesicles in several cell types, including granulocytes, melanocytes, and platelets. This report describes a severe case of CHS resulting from paternal heterodisomy of chromosome 1, causing homozygosity for the most distal nonsense mutation (p.E3668X, exon 50) reported to date in the LYST/CHS1 gene. The mutation is located in the WD40 region of the CHS1 protein. The patient's fibroblasts expressed no detectable CHS1. Besides manifesting the classical CHS findings, the patient exhibited hypotonia and global developmental delays, raising concerns about other effects of heterodisomy. An interstitial 747 kb duplication on 6q14.2–6q14.3 was identified in the propositus and paternal samples by comparative genomic hybridization. SNP genotyping revealed no additional whole chromosome or segmental isodisomic regions or other dosage variations near the crossover breakpoints on chromosome 1. Unmasking of a separate autosomal recessive cause of developmental delay, or an additive effect of the paternal heterodisomy, could underlie the severity of the phenotype in this patient. Published 2010 Wiley‐Liss, Inc.
Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy
Authors: Isidor Bertrand , Baron Sabine , Khau van Kien Philippe , Bertrand Anne‐Marie , David Albert , Le Merrer Martine 
Published: May 2010

AbstractThis report describes two unrelated boys presenting with short stature, femoral metaphyseal abnormalities, platyspondyly, and retinitis pigmentosa. Patients share similar findings with cases described by Ehara et al. [Ehara et al. (1997); Eur J Pediatr 156:627–630] described as axial spondylometaphyseal dysplasia. The presence of consanguinity in one of our patients further supports an autosomal recessive mode of inheritance of what, we believe, constitutes a separate and distinct entity. © 2010 Wiley‐Liss, Inc.
Subtelomeric deletion of 12p: Description of a third case and review
Authors: MacDonald A.H. , Rodríguez L. , Aceña I. , Martínez‐Fernández M.L. , Sánchez‐Izquierdo D. , Zuazo E. , Martínez‐Frías M.L. 
Published: May 2010

AbstractOnly 12 cases with a cytogenetically visible deletion of the short arm of chromosome 12 (12p) have been reported so far. The difference in clinical features observed in these patients indicates that there is no distinct phenotype associated with this short arm deletion, although the existence of a del(12p) syndrome was previously suggested. Besides those 12 reports, only two patients have been described with a subtelomeric 12p deletion; both present in the same family in which the son showed a mild phenotype of moderate mental retardation and behavioral problems and his carrier mother had no apparent phenotype. In this article, we describe the third known patient with a subtelomeric 12p deletion in a young boy with mental retardation and microcephaly, and review the literature. © 2010 Wiley‐Liss, Inc.
Array CGH in molecular diagnosis of mental retardation—A study of 150 Finnish patients
Authors: Siggberg Linda , Ala‐Mello Sirpa , Jaakkola Elisa , Kuusinen Esa , Schuit Robert , Kohlhase Jürgen , Böhm Detlef , Ignatius Jaakko , Knuutila Sakari 
Published: May 2010

AbstractWe report on the results of an array comparative genomic hybridization (array CGH) study of 150 karyotypically normal Finnish patients with idiopathic mental retardation and/or dysmorphic features and/or malformations. Using high‐resolution microarray analysis, we sought to identify clinically relevant microdeletions and microduplications in these patients. The results were confirmed using other methods and compared with findings reported in recent publications and internet databases. Small aberrations of potential clinical significance were found in 28 (18.6%) of the 150 patients. Eight of the identified aberrations are known to cause syndromes, 4 affected the X chromosome in males, 4 were familial, and 13 have yet to be associated with a phenotype. This study demonstrates the benefits of array CGH in clinical diagnostics of developmental disorders. Further, our findings give evidence of new syndromes. © 2010 Wiley‐Liss, Inc.
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus
Authors: Verkerk Annemieke J.M.H. , Schot Rachel , van Waterschoot Laura , Douben Hannie , Poddighe Pino J. , Lequin Maarten H. , de Vries Linda S. , Terhal Paulien , Hahnemann Johanne M.D. , de Coo Irenaeus F.M. , de Wit Marie‐Claire Y. , Wafelman Leontien S. , Garavelli Livia , Dobyns William B. , Van der Spek Peter J. , de Klein Annelies , Mancini Grazia M.S. 
Published: May 2010

AbstractThe combination of megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus (MPPH) is a rare syndrome of unknown cause. We observed two first cousins affected by an MPPH‐like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q13.3) translocation, including the NSD1 Sotos syndrome locus. We describe the phenotype and the deletion breakpoints of the two MPPH‐like patients and compare these with five unrelated MPPH and Sotos patients harboring a 5q35 microdeletion. Mapping of the breakpoints in the two cousins was performed by MLPA, FISH, high density SNP‐arrays and Q‐PCR for the 5q35 deletion and 20q13 duplication. The 5q35 deletion area of the two cousins almost completely overlaps with earlier described patients with an atypical Sotos microdeletion, except for the DRD1 gene. The five unrelated MPPH patients neither showed submicroscopic chromosomal aberrations nor DRD1 mutations. We reviewed the brain MRI of 10 Sotos patients and did not detect polymicrogyria in any of them. In our two cousins, the MPPH‐like phenotype is probably caused by the contribution of genes on both chromosome 5q35 and 20q13. Some patients with MPPH may harbor a submicroscopic chromosomal aberration and therefore high‐resolution array analysis should be part of the diagnostic workup. © 2010 Wiley‐Liss, Inc.
The course of cognitive‐behavioral development in children with the FMR1 mutation, Williams–Beuren syndrome, and neurofibromatosis type 1: The effect of gender
Authors: Fisch Gene S. , Carpenter Nancy , Howard‐Peebles Patricia N. , Holden Jeanette J.A. , Tarleton Jack , Simensen Richard 
Published: May 2010

AbstractThe course of cognitive‐behavioral development in children with intellectual disabilities produced by genetic disorders has only recently begun to be examined systematically. Unfortunately, these studies are few in number. Previously, we examined cognitive‐behavioral development in children with the fragile X (FMR1) mutation and found longitudinal decreases in both IQ and adaptive behavior (DQ) scores in most males and females with the full mutation. In this study, we examine longitudinal changes in IQ and DQ in children with neurofibromatosis type 1 (NF1) and Williams–Beuren Syndrome (WBS) by examining differences in composite IQ and DQ scores between the first test (T1) and retest (T2), and compare their developmental trajectory to children with the FMR1 mutation. Sixty‐five children with the FMR1 mutation, or NF1, or WBS, ages 4–16 years, were retested two years after initial testing with the Stanford‐Binet 4th Edition (SBFE) and the Vineland Adaptive Behavior Scale (VABS). In addition to significant longitudinal declines in IQ and DQ noted previously in children with the FMR1 mutation, we found significant decreases in IQ in males compared to females in the remainder of our sample. We also observed statistically significant decreases in DQ scores among children the FMR1 mutation, as noted previously, but not among children with NF1 or WBS. Moreover, significant declines were found only among males with the FMR1 mutation. Unlike declines in IQ scores, decreases in DQ were not significantly different between males and females. © 2010 Wiley‐Liss, Inc.
Duplication 16p11.2 in a child with infantile seizure disorder
Authors: Bedoyan Jirair K. , Kumar Ravinesh A. , Sudi Jyotsna , Silverstein Faye , Ackley Todd , Iyer Ramaswamy K. , Christian Susan L. , Martin Donna M. 
Published: May 2010

AbstractSubmicroscopic recurrent 16p11.2 rearrangements are associated with several neurodevelopmental disorders, including autism, mental retardation, and schizophrenia. The common 16p11.2 region includes 24 known genes, of which 22 are expressed in the developing human fetal nervous system. As yet, the mechanisms leading to neurodevelopmental abnormalities and the broader phenotypes associated with deletion or duplication of 16p11.2 have not been clarified. Here we report a child with spastic quadriparesis, refractory infantile seizures, severe global developmental delay, hypotonia, and microcephaly, and a de novo 598 kb 16p11.2 microduplication. Family history is negative for any of these features in parents and immediate family members. Sequencing analyses showed no mutations in DOC2A, QPRT, and SEZ6L2, genes within the duplicated 16p11.2 region that have been implicated in neuronal function and/or seizure related phenotypes. The child's clinical course is consistent with a rare seizure disorder called malignant migrating partial seizure disorder of infancy, raising the possibility that duplication or disruption of genes in the 16p11.2 interval may contribute to this severe disorder. © 2010 Wiley‐Liss, Inc.
Multiple malignant diseases in a patient with Rothmund–Thomson syndrome with RECQL4 mutations: Case report and literature review
Authors: Simon T. , Kohlhase J. , Wilhelm C. , Kochanek M. , De Carolis B. , Berthold F. 
Published: May 2010

AbstractRECQL4 mutations cause genetic instability and increase the risk of malignant disease. We report on a patient with compound heterozygosity for two novel RECQL4 mutations: mutation c.1919_1924delTCACAG, p.L640_A642delinsP in exon 12 of the RECQL4 gene and mutation c.1704+1G>A in intron 10 of the RECQL4 gene. He subsequently developed large cell anaplastic T cell lymphoma at the age of 9 years, diffuse large cell B lymphoma and osteosarcoma when he was 14 years old, and finally acute lymphatic leukemia when he was 21 years old. The most remarkable clinical features are young age, spontaneous remission of diffuse large cell lymphoma, and severe CNS and skin toxicity of cytotoxic treatment. © 2010 Wiley‐Liss, Inc.
CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms
Authors: Romanelli Valeria , Belinchón Alberta , Benito‐Sanz Sara , Martínez‐Glez Victor , Gracia‐Bouthelier Ricardo , Heath Karen E. , Campos‐Barros Angel , García‐Miñaur Sixto , Fernandez Luís , Meneses Heloisa , López‐Siguero Juan Pedro , Guillén‐Navarro Encarna , Gómez‐Puertas Paulino , Wesselink Jan‐Jaap , Mercado Graciela , Esteban‐Marfil Victoria , Palomo Rebeca , Mena Rocío , Sánchez Aurora , del Campo Miguel , Lapunzina Pablo 
Published: May 2010

AbstractBeckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macroglossia, macrosomia, and abdominal wall defects. It is a multigenic disorder caused in most patients by alterations in growth regulatory genes. A small number of individuals with BWS (5–10%) have mutations in CDKN1C, a cyclin‐dependent kinase inhibitor of G1 cyclin complexes that functions as a negative regulator of cellular growth and proliferation. Here, we report on eight patients with BWS and CDKN1C mutations and review previous reported cases. We analyzed 72 patients (50 BWS, 17 with isolated hemihyperplasia (IH), three with omphalocele, and two with macroglossia) for CDKN1C defects with the aim to search for new mutations and to define genotype–phenotype correlations. Our findings suggest that BWS patients with CDKN1C mutations have a different pattern of clinical malformations than those with other molecular defects. Polydactyly, genital abnormalities, extra nipple, and cleft palate are more frequently observed in BWS with mutations in CDKN1C. The clinical observation of these malformations may help to decide which genetic characterization should be undertaken (i.e., CDKN1C screening), thus optimizing the laboratory evaluation for BWS. © 2010 Wiley‐Liss, Inc.
Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys
Authors: Torrioli MariaGiulia , Vernacotola Silvia , Setini Chiara , Bevilacqua Francesca , Martinelli Diego , Snape Mike , Hutchison Julie A , Di Raimo Francesca Romana , Tabolacci Elisabetta , Neri Giovanni 
Published: May 2010

AbstractFragile X syndrome (FXS) is the leading cause of inherited mental retardation, due to expansion and methylation of the CGG sequence at the 5′ UTR of the FMR1 gene. Around 90% of affected boys present with attention deficit hyperactivity disorder (ADHD), while this percentage is lower in FXS girls (35–47%). Treatment of these behavioral symptoms is critical for many families. In an attempt at identifying drugs capable of restoring the activity of the FMR1 gene, we investigated the use of valproic acid (VPA), a well‐known antiepileptic drug, also used as a mood stabilizer and in migraine therapy. It is described as an inhibitor of histone deacetylase (HDAC) and, possibly, as a DNA demethylating agent. In an in vitro study we observed that treatment of lymphoblastoid cells from FXS patients with VPA caused a modest reactivation of FMR1 transcription and increased levels of histone acetylation, confirming the histone hyperacetylating effect, but not its putative DNA demethylating activity. On the basis of these findings, we decided to evaluate the in vivo efficacy of VPA on ADHD symptoms in FXS patients. We observed an improvement in the adaptive behavior, defined as the performance of daily activities required for personal and social competence, due to a significant reduction in hyperactivity after VPA treatment. This treatment could be considered as an alternative to that with stimulants, whose efficacy in patients with FXS needs to be confirmed by further studies. © 2010 Wiley‐Liss, Inc.