bluuebunny/crossref_metadata_2025_split huggingface dataset:
Phase II Study of Irinotecan in Combination with Capecitabine on a 3-Weekly Schedule as First-Line Chemotherapy for Patients with Metastatic or Locally Advanced Colorectal Cancer
Authors: Antonieta Salud  , Vicente Alonso  , Pilar Escudero  , Miguel Burillo  , Cristina Martín  , Fernando Rivera  , Alfonso Yubero  , Carlos García-Girón  , Alberto Muñoz  
Published: August 2013

Background: Capecitabine has demonstrated non inferiority efficacy and improved safety compared with 5-fluorouracil (5-FU)/leucovorin (LV) in metastatic colorectal cancer (mCRC) without the inconvenience of an infusional therapy. The aim of the present study was to evaluate the efficacy and safety of capecitabine plus irinotecan (CPT-11) given every 3 weeks (XELIRI regimen) as first-line treatment in locally advanced (LA) or mCRC, in order to improve patient tolerability and quality of life. Patients and methods: Patients with LA or mCRC received CPT-11 225 mg/m2(180 mg/m2 if > 65 years old) on day 1 and capecitabine 1000 mg/m2 (750 mg/m2 if > 65 years old) twice daily on days 2-15 every 3 week. Primary endpoints were objective response rate (ORR) and toxicity of the chemotherapeutic regimen. Secondary endpoints of overall survival (OS), progression-free survival (PFS), response duration and quality of life were also evaluated. Results: Ninety-one patients were included. In an intention-to-treat analysis, complete response was achieved in 3 patients and partial response in 27, for an ORR of 33%. The disease control rate (ORR + stable disease) was 72.5%. Median time to progression and OS were 9.3 and 17.1 months respectively. Grade 3/4 neutropenia and diarrhea were the most commonly reported adverse vents. Conclusion: The XELIRI regimen given every 3 weeks, as first-line therapy of LA or mCRC was effective and well tolerated, including elderly patients. Severe gastrointestinal toxicities and hematological events were manageable.
Urolithiasis in Children with Acute Lymphoblastic Leukemia
Authors: Mariane Gouvêa Monteiro de Camargo  , Ricardo Jordão Duarte  , Lilian Maria Cristofani  , Vicente Odone Filho  , Miguel Srougi  
Published: August 2013

Background: Urinary tract lithiasis(UTL) requires careful intervention, especially when associated with other diseases. The purpose of this study was to assess the outcome of symptomatic UTL in children with acute lymphoblastic leukemia (ALL) and to evaluate its correlation with the anti-neoplastic treatment phase and drugs, and to assess the need for intervention, results, complications and follow-up.
Procedure: The charts of 350 patients with ALL (1990-2008) were retrospectively evaluated. Signs and symptoms, methods of diagnosis, complications, treatment approach, resolution, anti-leukemic treatment phase when the UTL was diagnosed, drugs used and interference on ALL treatment were recorded.
Results: A total of 12/350 patients (3.4%) had UTL (14 stones). The median age was 7.6 years. Pain was present in 60%, hematuria in 20% and both in 20%. The median stone size was 4mm (3- 13.8mm). Three patients required hospitalization (pain) and one had chemotherapy discontinued due to severe hematuria and blood support. At the time of diagnosis of UTL, four patients were in the induction phase with corticosteroids, four were in the maintenance phase with corticosteroids, two were in the maintenance phase without corticosteroids, and one had a recurrence after therapy, and two were off-therapy. 11/13 episodes of UTL had spontaneous resolution, two underwent successful extracorporeal shockwave lithotripsy, and one patient remains with an asymptomatic stone.
Conclusions: 3.4% of children with ALL presented symptomatic UTL. While the majority of cases have been resolved spontaneously, hospitalization and delay in chemotherapy have increased morbidity in these children.
Inflammatory Cytokines Presented from Polymer Matrices Differentially Generate and Activate DCs In Situ
Authors: Ali Omar A. , Tayalia Prakriti , Shvartsman Dmitry , Lewin Sarah , Mooney David J. 
Published: August 2013

AbstractDuring infection, inflammatory cytokines mobilize and activate dendritic cells (DCs), which are essential for efficacious T cell priming and immune responses that clear the infection. Here, macroporous poly(lactide‐co‐glycolide) (PLG) matrices are designed to release the inflammatory cytokines GM‐CSF, Flt3L, and CCL20 in order to mimic infection‐induced DC recruitment. The ability of these infection mimics to function as cancer vaccines is tested via induction of specific anti‐tumor T cell responses. All vaccine systems tested are able to confer specific anti‐tumor T cell responses and long‐term survival in a therapeutic B16‐F10 melanoma model. However, GM‐CSF and Flt3L vaccines result in similar survival rates and outperformed CCL20‐loaded scaffolds, even though they have differential effects on DC recruitment and generation. GM‐CSF signaling is identified as the most potent chemotactic factor for conventional DCs and significantly enhanced surface expression of MHC(II) and CD86(+), which are utilized for priming T cell immunity. In contrast, the use of Flt3L vaccines leads to greater numbers of plasmacytoid DCs, correlating with increased levels of T cell‐priming cytokines that amplify T cell responses. These results demonstrate that 3D polymer matrices modified to present inflammatory cytokines may be utilized to effectively mobilize and activate different DC subsets in vivo for immunotherapy.
Mechanically Controllable Break Junctions for Molecular Electronics
Authors: Xiang Dong , Jeong Hyunhak , Lee Takhee , Mayer Dirk 
Published: August 2013

AbstractA mechanically controllable break junction (MCBJ) represents a fundamental technique for the investigation of molecular electronic junctions, especially for the study of the electronic properties of single molecules. With unique advantages, the MCBJ technique has provided substantial insight into charge transport processes in molecules. In this review, the techniques for sample fabrication, operation and the various applications of MCBJs are introduced and the history, challenges and future of MCBJs are discussed.
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders
Authors: Poole Rebecca L. , Docherty Louise E. , Al Sayegh Abeer , Caliebe Almuth , Turner Claire , Baple Emma , Wakeling Emma , Harrison Lucy , Lehmann Anna , Temple I. Karen , Mackay Deborah J.G. ,   On behalf of the International Clinical Imprinting Consortium
Published: August 2013

AbstractImprinting disorders are associated with mutations and epimutations affecting imprinted genes, that is those whose expression is restricted by parent of origin. Their diagnosis is challenging for two reasons: firstly, their clinical features, particularly prenatal and postnatal growth disturbance, are heterogeneous and partially overlapping; secondly, their underlying molecular defects include mutation, epimutation, copy number variation, and chromosomal errors, and can be further complicated by somatic mosaicism and multi‐locus methylation defects. It is currently unclear to what extent the observed phenotypic heterogeneity reflects the underlying molecular pathophysiology; in particular, the molecular and clinical diversity of multilocus methylation defects remains uncertain. To address these issues we performed comprehensive methylation analysis of imprinted genes in a research cohort of 285 patients with clinical features of imprinting disorders, with or without a positive molecular diagnosis. 20 of 91 patients (22%) with diagnosed epimutations had methylation defects of additional imprinted loci, and the frequency of developmental delay and congenital anomalies was higher among these patients than those with isolated epimutations, indicating that hypomethylation of multiple imprinted loci is associated with increased diversity of clinical presentation. Among 194 patients with clinical features of an imprinting disorder but no molecular diagnosis, we found 15 (8%) with methylation anomalies, including missed and unexpected molecular diagnoses. These observations broaden the phenotypic and epigenetic definitions of imprinting disorders, and show the importance of comprehensive molecular testing for patient diagnosis and management. © 2013 Wiley Periodicals, Inc.
Severe hypospadias and its association with maternal‐placental factors
Authors: Huisma Felicity , Thomas Marion , Armstrong Linlea 
Published: August 2013

AbstractThe neonate born small for gestational age (SGA, birth weight <10th centile) with severe hypospadias, and without the presence of other malformations, is a presentation which clinical geneticists are asked to assess. However, this combination is not well addressed in the literature. Epidemiological studies point to an increased incidence and severity of hypospadias in SGA infants, but leave open the possibility that the association is attributable to the population subset who have multiple congenital abnormalities or genetic syndromes. Epidemiological studies unselected for birth weight have also identified an association between hypospadias with some risk factors tied to SGA, including prematurity, preeclampsia, and placental insufficiency. This study was developed after being involved in the care of several boys with SGA and severe hypospadias who were premature, with gestational histories of maternal hypertension and oligohydramnios. No underlying syndromes, hormonal abnormalities, or contributory family histories could be found. We hypothesized that severe hypospadias may in some cases be causally related to maternal‐placental factors rather than primary fetal abnormalities. A retrospective study of a cohort of singletons born SGA with unexplained hypospadias was conducted. We compared their gestational histories and hypospadias severities with those born at normal birth weights. The cohort with SGA had an increased ratio of severe to mild hypospadias. Further, within the cohort of SGA boys, there was a higher prevalence of prematurity, maternal hypertension, and oligohydramnios among those with severe vs mild hypospadias. Small sample sizes are limiting. © 2013 Wiley Periodicals, Inc.
Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence
Authors: Bhoj Elizabeth , Halbach Sara , McDonald‐McGinn Donna , Tan Christopher , Lande Rachel , Waggoner Darrel , Zackai Elaine 
Published: August 2013

ABSTRACTMicrodeletion 4q21 syndrome has been described in about a dozen patients with deletions ranging from 3.2 to 15.1 MB with similar features including the distinctive facial characteristics of broad forehead, hypertelorism, and prominent front teeth, with severe growth delay, developmental delay, and neonatal hypotonia. A 1.37 MB minimal critical region has been described that accounts for this shared phenotype and includes five known genes: PRKG2, RASGEF1B, HNRNPD, HNRPDL, and ENOPH1. We report on two new patients found through single nucleotide polymorphism (SNP) microarray testing that expand the reported phenotype. Patient 1 has a novel deletion of 2.0 MB, the smallest reported deletion, which involves only a partial deletion of the minimal critical region, including the genes HNRNPD, HNRPDL, and ENOPH1. She shares much of the typical phenotype including moderate developmental delay, unusual facial features, small hands and feet, but not any growth delay or neonatal hypotonia. This patient allows further genotype–phenotype correlation of the genes in the minimal critical region, and supports that heterozygous loss of PRKG2 leads to the growth delay. Patient 2 has a novel 3.4 MB deletion that includes the entire critical region, and has typical features, but also presented with cleft palate and Pierre Robin sequence, which have not been previously described. A gene reported to be associated with inherited cleft palate, SCD5, is in the deleted region in this patient, which suggests it may be playing a role in palate formation. Taken together, these patients allow for an expansion of the microdeletion 4q21 syndrome and provide candidate genes for particular features of the phenotype. © 2013 Wiley Periodicals, Inc.
Long‐term follow‐up of four patients with langer–giedion syndrome: Clinical course and complications
Authors: Schinzel Albert , Riegel Mariluce , Baumer Alessandra , Superti‐Furga Andrea , Moreira Lilia M.A. , Santo Layla D.E. , Schiper Patricia P. , Carvalho José Henrique Dantas , Giedion Andres 
Published: August 2013

AbstractLong‐term observations of individuals with the so‐called Langer–Giedion (LGS) or tricho–rhino‐phalangeal type II (TRPS2) are scarce. We report here a on follow‐up of four LGS individuals, including one first described by Andres Giedion in 1969, and review the sparse publications on adults with this syndrome which comprises ectodermal dysplasia, multiple cone‐shaped epiphyses prior to puberty, multiple cartilaginous exostoses, and mostly mild intellectual impairment. LGS is caused by deletion of the chromosomal segment 8q24.11–q24.13 containing among others the genes EXT1 and TRPS1. Most patients with TRPS2 are only borderline or mildly cognitively delayed, and few are of normal intelligence. Their practical skills are better than their intellectual capability, and, for this reason and because of their low self‐esteem, they are often underestimated. Some patients develop seizures at variable age. Osteomas on processes of cervical vertebrae may cause pressure on cervical nerves or dissection of cerebral arteries. Joint stiffness is observed during childhood and changes later to joint laxity causing instability and proneness to trauma. Perthes disease is not rare. Almost all males become bald at or soon after puberty, and some develop (pseudo) gynecomastia. Growth hormone deficiency was found in a few patients, TSH deficiency so far only in one. Puberty and fertility are diminished, and no instance of transmission of the deletion from a non‐mosaic parent to a child has been observed so far. Several affected females had vaginal atresia with consequent hydrometrocolpos. © 2013 Wiley Periodicals, Inc.
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations
Authors: Kido Yasuhiro , Gordon Christopher T. , Sakazume Satoru , Bdira Eya Ben , Dattani Mehul , Wilson Louise C. , Lyonnet Stanislas , Murakami Nobuyuki , Cunningham Michael L. , Amiel Jeanne , Nagai Toshiro 
Published: August 2013

AbstractAuriculocondylar syndrome (ACS) is a branchial arch syndrome typically inherited in an autosomal dominant fashion. Patients with ACS display the following core symptoms with varying severity: a specific malformation of the external ear, known as a “question mark ear,” micrognathia and mandibular condyle hypoplasia. Recently, phospholipase C, β 4 (PLCB4) mutations were identified as the major cause of autosomal dominant ACS, with mutations of the PLCB4 catalytic domain predicted to have a dominant negative effect. In addition, one ACS patient born to related parents harbored a homozygous partial deletion of PLCB4, and presented with ACS plus central apnea and macropenis; these features had not been previously reported in association with ACS. His parents, each with a heterozygous partial PLCB4 deletion, were phenotypically normal, suggesting autosomal recessive inheritance of ACS, with complete loss of function of PLCB4 predicted in the patient. We herein describe two brothers with ACS caused by compound heterozygous splice site mutations in PLCB4. The patients were born to the same unrelated and healthy parents, with each parent harboring one of the mutations, indicating autosomal recessive ACS. Both patients reported here had mixed apneas, gastrointestinal transit defects and macropenis, in addition to typical craniofacial features of ACS. This is the first example of ACS caused by compound heterozygous splice site mutations in PLCB4, the second autosomal recessive case of ACS confirmed by molecular analysis, and strengthens the link between complete loss of function of PLCB4 and extra‐craniofacial features. © 2013 Wiley Periodicals, Inc.
Molecularly imprinted polymer beads prepared by pickering emulsion polymerization for steroid recognition
Authors: Zhou Tongchang , Shen Xiantao , Chaudhary Shilpi , Ye Lei 
Published: August 2013

ABSTRACTPickering emulsion polymerization was used to synthesize molecularly imprinted polymer beads for the selective recognition of 17‐β‐estradiol under aqueous conditions. Scanning electron microscopy analysis indicated that the imprinted polymer beads had a small diameter with a narrow size distribution (18.9 ± 2.3 μm). The reduction in particle size achieved in this study was attributed to the altered polarity of the stabilizing nanoparticles used in the Pickering emulsion. The imprinted polymer beads could be used directly in water and showed a high binding affinity for the template molecule, 17‐β‐estradiol, and its structural analogs. These water‐compatible polymer beads could be used as affinity adsorbents for the extraction and analysis of low‐abundance steroid compounds in aqueous samples. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 39606.
Effective immobilization of lipase onto a porous gelatin‐co‐Poly(vinyl alcohol) copolymer and evaluation of its hydrolytic properties
Authors: Kaur Inderjeet , Bhati Pooja , Bala Kiran , Kanwar Shamsher S. 
Published: August 2013

ABSTRACTCrosslinked copolymers of gelatin and poly(vinyl alcohol) (PVA) with excellent water absorption and water retention abilities were successfully synthesized using 60Co γ radiation. Ammonium persulfate (APS), as a water‐soluble initiator and sodium bicarbonate (NaHCO3) as a foaming agent were used. The best synthesis conditions were evaluated with regard to the maximum percentage of swelling as a function of the APS concentration, NaHCO3 concentration, amount of water, and reaction time. The maximum swelling percentage (1694.59%) of the copolymer gelatin‐co‐PVA, was obtained at the optimum parameters [APS] = 2.92 × 10−1 mol/L, [NaHCO3] = 7.94 × 10−2 mol/L, and 1.5 mL of water with 31.104 kGy of the γ radiation dose. The copolymer was characterized by Fourier transform infrared spectroscopy (FTIR) and scanning electron microscopy (SEM) methods. The SEM analysis showed a highly nanoporous and cellular structure of the copolymer. The copolymer was used as a support for lipase immobilization. The optimization of the reaction conditions, including the pH and temperature for immobilization, on the basis of the hydrolysis of p‐nitrophenyl palmitate, was carried out. An excellent efficiency for protein loading (70%) at pH 8.5 by the copolymer was observed. The results observed during the evaluation of the hydrolytic properties showed excellent activity of the bound lipase. The porous gelatin‐co‐PVA bound lipase was found to be stable at 75°C and pH 8.5; it displayed 2.326 ± 0.005 U/g of lipase activity. The stability and activity of the copolymer‐bound lipase were also studied as a function of the time at 75°C, and the biocatalyst was found to be stable and active up to 1 h, beyond which the activity decreased. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 39622.
Poly(methyl methacrylate)/poly(ethylene glycol)/poly(ethylene glycol dimethacrylate) micelles: Preparation, characterization, and application as doxorubicin carriers
Authors: Yu Lili , Yao Lin , You Jing , Guo Yihui , Yang Liyan 
Published: August 2013

ABSTRACTA crosslinked amphiphilic copolymer [poly(ethylene glycol) (PEG)–poly(methyl methacrylate) (PMMA)–ethylene glycol dimethacrylate (EGDM)] composed of PMMA, PEG, and crosslinking units (EGDM) was synthesized by atom transfer radical polymerization to develop micelles as carriers for hydrophobic drugs. By adjusting the molar ratio of methyl methacrylate and EGDM, three block copolymer samples (P0, P1, and P2) were prepared. The measurement of gel permeation chromatography and 1H‐NMR indicated the formation of crosslinked structures for P1 and P2. Fluorescence spectroscopy measurement indicated that PEG–PMMA–EGDM could self‐assemble to form micelles, and the critical micelle concentration values of the crosslinked polymer were lower than those of linear ones. The prepared PEG–PMMA–EGDM micelles were used to load doxorubicin (DOX). The drug‐loading efficiencies of P1 and P2 were higher than that of P0 because the crosslinking units enhanced the micelles' stability. With increasing drug‐loading contents, DOX release from the micelles in vitro was decreased, and in the crosslinked formulations, the release rate was also slower. An in vitro release study indicated that DOX release from the micelles for the linear samples was faster than that for crosslinked micelles. The drug feeding amount increased and resulted in an increase in the drug‐loading content, and the loading efficiency decreased. These PEG–PMMA–EGDM micelles did not show toxicity in vitro and could reduce the cytotoxicity of DOX in the micelles; this suggested that they are good candidates as stable drug carriers. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 39623.
Graphene and graphene oxide and their uses in barrier polymers
Authors: Yoo Byung Min , Shin Hye Jin , Yoon Hee Wook , Park Ho Bum 
Published: August 2013

ABSTRACTCurrently, there is great interest in graphene‐based devices and applications because graphene has unique electronic and material properties, which can lead to enhanced material performance. Graphene may be used in a wide variety of potential applications from next‐generation transistors to lightweight and high‐strength polymeric composite materials. Graphene, which has atomic thickness and two‐dimensional sizes in the tens of micrometer range or larger, has also been considered a promising nanomaterial in gas‐ or liquid‐barrier applications because perfect graphene sheets do not allow diffusion of small gases or liquids through its plane. Recent molecular simulations and experiments have demonstrated that graphene and its derivatives can be used for barrier applications. In general, graphene and its derivatives can be applied via two major routes for barrier polymer applications. One is the transfer or coating of few‐layered, ultrathin graphene and its derivatives, such as graphene oxide (GO) and reduced graphene oxide (rGO), on polymeric substrates. The other is the incorporation of fully exfoliated GO or rGO nanosheets into the polymeric matrix. In this article, we review the state‐of‐the‐art research on the use of graphene, GO, and rGO for barrier applications, including few‐layered graphene or its derivatives in coated polymeric films and polymer nanocomposites consisting of chemically exfoliated GO and rGO nanosheets, and their gas‐barrier properties. As compared to other nanomaterials being used for barrier applications, the advantages and current limitations are discussed to highlight challenging issues for future research and the potential applications of graphene/polymer, GO/polymer, and rGO/polymer composites. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci.2014,131, 39628.