bluuebunny/crossref_metadata_2025_split huggingface dataset:
2D and 3D Nanopatterning of Titanium for Enhancing Osteoinduction of Stem Cells at Implant Surfaces
Authors: Sjöström Terje , McNamara Laura E. , Meek R. M. Dominic , Dalby Matthew J. , Su Bo 
Published: March 2013

AbstractThe potential for the use of well‐defined nanopatterns to control stem cell behaviour on surfaces has been well documented on polymeric substrates. In terms of translation to orthopaedic applications, there is a need to develop nanopatterning techniques for clinically relevant surfaces, such as the load‐bearing material titanium (Ti). In this work, a novel nanopatterning method for Ti surfaces is demonstrated, using anodisation in combination with PS‐b‐P4VP block copolymer templates. The block copolymer templates allows for fabrication of titania nanodot patterns with precisely controlled dimensions and positioning which means that this technique can be used as a lithography‐like patterning method of bulk Ti surfaces on both flat 2D and complex shaped 3D surfaces. In vitro studies demonstrate that precise tuning of the height of titania nanodot patterns can modulate the osteogenic differentiation of mesenchymal stem cells. Cells on both the 8 nm and 15 nm patterned surfaces showed a trend towards a greater number of the large, super‐mature osteogenic focal adhesions than on the control polished Ti surface, but the osteogenic effect was more pronounced on the 15 nm substrate. Cells on this surface had the longest adhesions of all and produced larger osteocalcin deposits. The results suggest that nanopatterning of Ti using the technique of anodisation through a block copolymer template could provide a novel way to enhance osteoinductivity on Ti surfaces.
Multifunctional Albumin Nanoparticles As Combination Drug Carriers for Intra‐Tumoral Chemotherapy
Authors: Cui Mingjie , Naczynski Dominik J. , Zevon Margot , Griffith Craig K. , Sheihet Larisa , Poventud‐Fuentes Izmarie , Chen Suzie , Roth Charles M. , Moghe Prabhas V. 
Published: March 2013

AbstractCurrent cancer therapies are challenged by weakly soluble drugs and by drug combinations that exhibit non‐uniform biodistribution and poor bioavailability. In this study, we have presented a new platform of advanced healthcare materials based on albumin nanoparticles (ANPs) engineered as tumor penetrating, delivery vehicles of combinatorially applied factors to solid tumors. These materials were designed to overcome three sequential key barriers: tissue level transport across solid tumor matrix; uptake kinetics into individual cancer cells; therapeutic resistance to single chemotherapeutic drugs. The ANPs were designed to penetrate deeper into solid tumor matrices using collagenase decoration and evaluated using a three‐dimensional multicellular melanoma tumor spheroid model. Collagenase modified ANPs exhibited 1‐2 orders of magnitude greater tumor penetration than unmodified ANPs into the spheroid mass after 96 hours, and showed preferential uptake into individual cancer cells for smaller sized ANPs (<100 nm). For enhanced efficacy, collagenase coated ANPs were modified with two therapeutic agents, curcumin and riluzole, with complementary mechanisms of action for combined cell cycle arrest and apoptosis in melanoma. The collagenase coated, drug loaded nanoparticles induced significantly more cell death within 3‐D tumor models than the unmodified, dual drug loaded ANP particles and the kinetics of cytotoxicity was further influenced by the ANP size. Thus, multifunctional nanoparticles can be imbued with complementary size and protease activity features that allow them to penetrate solid tumors and deliver combinatorial therapeutic payload with enhanced cancer cytotoxicity but minimal collateral damage to healthy primary cells.
Prevalence of diabetes and pre‐diabetes in a cohort of Italian young adults with Williams syndrome
Authors: Masserini Benedetta , Bedeschi Maria Francesca , Bianchi Vera , Scuvera Giulietta , Beck‐Peccoz Paolo , Lalatta Faustina , Selicorni Angelo , Orsi Emanuela 
Published: March 2013

AbstractWilliams syndrome (WS) is a rare, multisystemic genomic disorder showing a high prevalence of impaired glucose metabolism in adulthood. The reason for this association is unknown, though hemizygosity for genes mapping to the WS chromosome region has been implicated. Twenty‐two Italian young adults with WS (13 females, 9 males) were studied. A 75 g oral glucose tolerance test (OGTT) was performed and β‐cell function was estimated with Homeostasis Model Assessment (HOMA)‐B%, Insulinogenic Index, and corrected insulin response whereas insulin sensitivity was assessed with HOMA‐Insulin Resistance Index, Quantitative Insulin Check Index, and composite Insulin Sensitivity Index. One patient had known diabetes mellitus (DM), whereas impaired glucose tolerance (IGT) was diagnosed in 12 patients and DM in one (63.6% prevalence of impaired glucose metabolism). IGT patients were more insulin resistant than those with normal glucose tolerance (NGT), whereas β‐cell function was unchanged or increased. Islet autoimmunity was absent. Logistic regression showed that impaired glucose metabolism was not associated with age, body mass index (BMI), or family history of DM. β‐cell function, insulin sensitivity, and post‐load insulin levels did not differ between WS patients with NGT and healthy controls comparable for gender, age, and BMI, though WS–NGT patients had higher post‐load glucose values. These data confirm the high prevalence of impaired glucose metabolism in WS young adults, thus suggesting the need for screening these patients with OGTT. IGT is associated with reduced insulin sensitivity, but not with impaired β‐cell function, islet autoimmunity, and traditional risk factors for type 2 DM. © 2013 Wiley Periodicals, Inc.
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype
Authors: Burnside Rachel D. , Pappas John G. , Sacharow Stephanie , Applegate Carolyn , Hamosh Ada , Gadi Inder K. , Jaswaney Vikram , Keitges Elisabeth , Phillips Karen K. , Potluri Venketaswara R. , Risheg Hiba , Smith Janice L. , Tepperberg Jim H. , Schwartz Stuart , Papenhausen Peter 
Published: March 2013

AbstractIndividuals with isolated terminal deletions of 8p have been well described in the literature, however, molecular characterization, particularly by microarray, of the deletion in most instances is lacking. The phenotype of such individuals falls primarily into two categories: those with cardiac defects, and those without. The architecture of 8p has been demonstrated to contain two inversely oriented segmental duplications at 8p23.1, flanking the gene, GATA4. Haploinsufficiency of this gene has been implicated in cardiac defects seen in numerous individuals with terminal 8p deletion. Current microarray technologies allow for the precise elucidation of the size and gene content of the deleted region. We present three individuals with isolated terminal deletion of 8p distal to the segmental duplication telomeric to GATA4. These individuals present with a relatively mild and nonspecific phenotype including mildly dysmorphic features, developmental delay, speech delay, and early behavior issues. © 2013 Wiley Periodicals, Inc.
New therapies for treating Down syndrome require quality of life measurement
Authors: Goodman Michael J. , Brixner Diana I. 
Published: March 2013

AbstractDown syndrome (DS) is the most common genetic cause of cognitive deficits. Using mouse models and therapies for Alzheimer disease, researchers are exploring therapies that may improve cognitive function in people with DS. These developments shift the health economic paradigm of understanding DS from determining the appropriate screening tool to the effect of therapy on quality of life in those with DS. To date, there are no validated quality of life instruments for DS. Research should begin to develop instruments that can evaluate changes in quality of life in therapeutic trials and beyond. © 2013 Wiley Periodicals, Inc.
A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity
Authors: Shichiji Minobu , Ito Yasushi , Shimojima Keiko , Nakamu Hidetsugu , Oguni Hirokazu , Osawa Makiko , Yamamoto Toshiyuki 
Published: March 2013

AbstractThe 2q23.1 deletion syndrome has been recently recognized as a neurodevelopmental disorder associated with intellectual disability, epilepsy, and autism spectrum disorder. Recently, methyl‐CpG‐binding domain 5 gene (MBD5), located in the 2q23.1 region, has been considered as a single causative gene of this syndrome. We report on a female patient with a de novo reciprocal translocation between chromosomes 2 and 5. Chromosomal microarray testing revealed a cryptic 896 kb deletion that included MBD5. Although clinical manifestations of this patient are compatible with those of patients with 2q23.1 deletion syndrome, a focal pachygyria revealed by brain magnetic resonance imaging has never been observed in the previously reported cases. Obesity caused by hyperphagia was observed in our patient and 28% of the previously reported patients with the 2q23.1 deletion syndrome. For better medical management, appropriate dietary guidance against hyperphagia should be given to the patients' family. © 2013 Wiley Periodicals, Inc.
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions
Authors: Perlman Seth J. , Kulkarni Shashikant , Manwaring Linda , Shinawi Marwan 
Published: March 2013

AbstractA variety of candidate genes have been proposed to cause corpus callosum abnormalities (CCAs) in patients with terminal chromosome 1q deletions. Recent data excluded AKT3 and implicated ZNF238 and/or CEP170 as genes causative of corpus callosum anomalies in patients with 1q43–1q44 deletions. We report on a girl with dysmorphic features, seizures beginning in infancy, hypotonia, marked developmental delay, and dysgenesis of the corpus callosum. Chromosomal microarray analysis detected a de novo 1.47 Mb deletion at 1q44. The deleted interval encompasses the ZNF238 gene but not the CEP170 or AKT3 genes, thus providing additional evidence for the former and against the latter as being causative of corpus callosum anomalies in patients with such deletions. © 2013 Wiley Periodicals, Inc.
A highly specific coding system for structural chromosomal alterations
Authors: Martínez‐Frías M.L. , Martínez‐Fernández M.L. 
Published: March 2013

AbstractThe Spanish Collaborative Study of Congenital Malformations (ECEMC, from the name in Spanish) has developed a very simple and highly specific coding system for structural chromosomal alterations. Such a coding system would be of value at present due to the dramatic increase in the diagnosis of submicroscopic chromosomal deletions and duplications through molecular techniques. In summary, our new coding system allows the characterization of: (a) the type of structural anomaly; (b) the chromosome affected; (c) if the alteration affects the short or/and the long arm, and (d) if it is a non‐pure dicentric, a non‐pure isochromosome, or if it affects several chromosomes. We show the distribution of 276 newborn patients with these types of chromosomal alterations using their corresponding codes according to our system. We consider that our approach may be useful not only for other registries, but also for laboratories performing these studies to store their results on case series. Therefore, the aim of this article is to describe this coding system and to offer the opportunity for this coding to be applied by others. Moreover, as this is a SYSTEM, rather than a fixed code, it can be implemented with the necessary modifications to include the specific objectives of each program. © 2013 Wiley Periodicals, Inc.
Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery
Authors: Solomons Joyce , Coucke Paul , Symoens Sofie , Cohen Marta C. , Pope F. Michael , Wagner Bart E. , Sobey Glenda , Black Rebecca , Cilliers Deirdre 
Published: March 2013

AbstractDermatosparaxis Ehlers–Danlos syndrome (or EDS VIIC), a rare autosomal recessive connective tissue disorder, is characterized by extreme skin fragility, premature rupture of membranes in pregnancy, and spontaneous rupture of internal organs. Here we report a second patient with EDS VIIC presenting with congenital skull fractures and skin lacerations at birth, complications which may occur more frequently than previously thought in this condition. We also discuss the role of prenatal diagnosis in the management of a subsequent normal pregnancy. © 2013 Wiley Periodicals, Inc.
Postnatal brain and skull growth in an Apert syndrome mouse model
Authors: Hill Cheryl A. , Martínez‐Abadías Neus , Motch Susan M. , Austin Jordan R. , Wang Yingli , Jabs Ethylin Wang , Richtsmeier Joan T. , Aldridge Kristina 
Published: March 2013

AbstractCraniofacial and neural tissues develop in concert throughout prenatal and postnatal growth. FGFR‐related craniosynostosis syndromes, such as Apert syndrome (AS), are associated with specific phenotypes involving both the skull and the brain. We analyzed the effects of the FGFR P253R mutation for AS using the Fgfr2+/P253R Apert syndrome mouse to evaluate the effects of this mutation on these two tissues over the course of development from day of birth (P0) to postnatal day 2 (P2). Three‐dimensional magnetic resonance microscopy and computed tomography images were acquired from Fgfr2+/P253R mice and unaffected littermates at P0 (N = 28) and P2 (N = 20).Three‐dimensional coordinate data for 23 skull and 15 brain landmarks were statistically compared between groups. Results demonstrate that the Fgfr2+/P253R mice show reduced growth in the facial skeleton and the cerebrum, while the height and width of the neurocranium and caudal regions of the brain show increased growth relative to unaffected littermates. This localized correspondence of differential growth patterns in skull and brain point to their continued interaction through development and suggest that both tissues display divergent postnatal growth patterns relative to unaffected littermates. However, the change in the skull–brain relationship from P0 to P2 implies that each tissue affected by the mutation retains a degree of independence, rather than one tissue directing the development of the other. © 2013 Wiley Periodicals, Inc.
Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy
Authors: Daack‐Hirsch Sandra , Holtzer Caleb , Cunniff Christopher 
Published: March 2013

AbstractDuchenne and Becker muscular dystrophy (DBMD) are allelic, X‐linked recessive, neuromuscular disorders characterized by progressive loss of muscle function. Despite technological advances in diagnostic genetic testing, the mean age at diagnosis (4.7 years) has remained unchanged for decades. The purpose of the study was to characterize parental perceptions of the diagnostic process and identify factors that influence the timeline. Data collection for this qualitative study consisted of six individual and five group interviews. Participants (N = 30) included Hispanic, non‐Hispanic black, and non‐Hispanic white parents whose son was diagnosed with DBMD. The “help‐seeking behavior model” provided an analytical framework to analyze the data. Parents did not move through help‐seeking stages unidirectionally as described in other studies. Delays existed at each stage. We identified personal, familial, social, cultural, and provider factors that impeded earlier diagnosis. These barriers prolonged movement through a stage or led families to repeat previous stages. Results should initiate debate among system administrators, patient advocates, and healthcare providers regarding which barriers may be most modifiable and which interventions may reduce the time to diagnosis and limit parental emotional distress. © 2013 Wiley Periodicals, Inc.
An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma
Authors: Minhas Hassan M. , Pescosolido Matthew F. , Schwede Matthew , Piasecka Justyna , Gaitanis John , Tantravahi Umadevi , Morrow Eric M. 
Published: March 2013

AbstractWe report on a pedigree with a pair of brothers each with minor anomalies, developmental delay, and autistic‐symptoms who share an unbalanced translocation (not detectable by karyotype). The unbalanced translocation involves a 7.1 Mb loss of the terminal portion of 10q, and a 4.2 Mb gain of 11q. One of the brothers also developed a cerebellar juvenile pilocytic astrocytoma. The father was found to be a balanced carrier and the couple had a previous miscarriage. We demonstrate that the breakpoint for the triplicated region from chromosome 11 is adjacent to two IgLON genes, namely Neurotrimin (NTM) and Opioid Binding Protein/Cell Adhesion Molecule‐like (OPCML). These genes are highly similar neural cell adhesion molecules that have been implicated in synaptogenesis and oncogenesis, respectively. The children also have a 10q deletion and are compared to other children with the 10q deletion syndrome which generally does not involve autism spectrum disorders (ASDs) or cancer. Together these data support a role for NTM and OPCML in developmental delay and potentially in cancer susceptibility. © 2013 Wiley Periodicals, Inc.
The changing clinical course of multiple sclerosis: A matter of gray matter
Authors: Calabrese Massimiliano , Romualdi Chiara , Poretto Valentina , Favaretto Alice , Morra Aldo , Rinaldi Francesca , Perini Paola , Gallo Paolo 
Published: March 2013

ObjectiveClinical and neuroimaging parameters predictive of the changing clinical course of multiple sclerosis (MS) from relapsing–remitting to secondary progressive have not been clarified yet. We specifically designed a prospective 5‐year longitudinal study aimed at assessing demographic, clinical, and magnetic resonance imaging (MRI) parameters that could predict the changing clinical course of MS.MethodsAt study entry and after 5 years, clinical and MRI (ie, gray matter and white matter lesions, including spinal cord lesions, and global and regional cortical thinning) parameters were assessed in a training set of 334 consecutive relapsing–remitting MS patients and in an independent validation set of 84 relapsing–remitting MS patients.ResultsSixty‐six (19.7%) relapsing–remitting MS patients changed their clinical course during the study and entered into the secondary progressive phase. Age (p = 0.001, odds ratio [OR] = 1.2), cortical lesion volume (p < 0.001,OR = 1.7), and cerebellar cortical volume (p < 0.001, OR = 0.2) at study entry were found to predict the changing clinical course. The model including only these 3 variables correctly identified 252 of 268 (94.0%) patients who maintained the relapsing–remitting course and 58 of 66 (87.8%) patients who became secondary progressive (cross‐validated error rate = 7.2%). When applied on the validation set, the model obtained a similar error rate (8.4%).InterpretationA prediction model based on age, cortical lesion load, and cerebellar cortical volume suitably explains the probability of relapsing–remitting MS patients evolving into the progressive phase. Gray matter damage appears to play a pivotal role in determining the changing clinical course of MS. Ann Neurol 2013;74:76–83
CuCu2OTiO2 Nanojunction Systems with an Unusual Electron–Hole Transportation Pathway and Enhanced Photocatalytic Properties
Authors: Xing Jun , Chen Zu Peng , Xiao Fang Yuan , Ma Xue Yan , Wen Ci Zhang , Li Zhen , Yang Hua Gui 
Published: March 2013

AbstractMulticomponent CuCu2OTiO2 nanojunction systems were successfully synthesized by a mild chemical process, and their structure and composition were thoroughly analyzed by X‐ray diffraction, transmission electron microscopy, field‐emission scanning electron microscopy, and X‐ray photoelectron spectroscopy. The as‐prepared CuCu2OTiO2 (3 and 9 h) nanojunctions demonstrated higher photocatalytic activities under UV/Vis light irradiation in the process of the degradation of organic compounds than those of the CuCu2O, CuTiO2, and Cu2OTiO2 starting materials. Moreover, time‐resolved photoluminescence spectra demonstrated that the quenching times of electrons and holes in CuCu2OTiO2 (3 h) is higher than that of CuCu2OTiO2 (9 h); this leads to a better photocatalytic performance of CuCu2OTiO2 (3 h). The improvement in photodegradation activity and electron–hole separation of CuCu2OTiO2 (3 h) can be ascribed to the rational coupling of components and dimensional control. Meanwhile, an unusual electron–hole transmission pathway for photocatalytic reactions over CuCu2OTiO2 nanojunctions was also identified.
Surface‐Passivated SBA‐15‐Supported Gold Nanoparticles: Highly Improved Catalytic Activity and Selectivity toward Hydrophobic Substrates
Authors: Gao Jinsuo , Zhang Xueying , Yang Yan , Ke Jun , Li Xinyong , Zhang Yaobin , Tan Feng , Chen Jingwen , Quan Xie 
Published: March 2013

AbstractSilanol groups on a silica surface affect the activity of immobilized catalysts because they can influence the hydrophilicity/hydrophobicity, matter transfer, or even transition state in a catalytic reaction. Previously, these silanol groups have usually been passivated by using surface‐passivation reagents, such as alkoxysilanes, bis‐silylamine reagents, chlorosilanes, etc., and surface passivation has typically been found in mesoporous‐silicas‐supported molecular catalysts and heteroatomic catalysts. However, this property has rarely been reported in mesoporous‐silicas‐supported metal‐nanoparticle catalysts. Herein, we prepared an almost‐superhydrophobic SBA‐15‐supported gold‐nanoparticle catalyst by using surface passivation, in which the catalytic activity increased more than 14 times for the reduction of nitrobenzene compared with non‐passivated SBA‐15. In addition, this catalyst can selectively catalyze hydrophobic molecules under our experimental conditions, owing to its high (almost superhydrophobic) hydrophobic properties.
Integrated transcriptomic and metabolomic analysis of the central metabolism of Synechocystis sp. PCC 6803 under different trophic conditions
Authors: Yoshikawa Katsunori , Hirasawa Takashi , Ogawa Kenichi , Hidaka Yuki , Nakajima Tsubasa , Furusawa Chikara , Shimizu Hiroshi 
Published: March 2013

AbstractCyanobacteria have received considerable attention as a sustainable energy resource because of their organic material production capacity using light energy and CO2 as a carbon source. Therefore, it is important to understand the cellular metabolism of cyanobacteria for metabolic engineering. In this study, to shed light on the central metabolism of cyanobacteria, we performed transcriptomic and metabolomic analyses of a glucose‐tolerant strain of the cyanobacterium Synechocystis sp. PCC 6803, which was cultured under auto‐ and mixotrophic conditions. Our results indicate that the oxidative pentose phosphate pathway and glycolysis are activated under mixotrophic conditions rather than autotrophic conditions. Moreover, we examined the effect of atrazine, a photosynthesis inhibitor, on the metabolism of PCC 6803 under mixotrophic conditions, which was defined as photoheterotrophic conditions, by transcriptomics and metabolomics. We demonstrated that the activity of the glycolytic pathway decreased due to the indirect effect of atrazine. In addition, the difference in transcriptional and metabolic changes between auto‐ and photoheterotrophic conditions could also be captured. The omics dataset reported herein provides clues for understanding the metabolism of cyanobacteria.