bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome
Authors: Kaya Zuhre , Ehl Stephan , Albayrak Meryem , Maul‐Pavicic Andrea , Schwarz Klaus , Kocak Ulker , Ergun Mehmet Ali , Gursel Turkiz 
Published: February 2011

AbstractChediak Higashi syndrome (CHS) is an autosomal‐recessive disorder characterized by oculocutaneous albinism, recurrent infections and a progressive primary neurological disease. Here, we describe two siblings with CHS due to a novel homozygous R1836X mutation in the LYST gene associated with loss of NK cell degranulation and cytotoxicity. While one sibling was born with fair skin and hair and died of hemophagocytic lymphohistiocytosis (HLH) at 5 months of age, the other sibling had dark black hair and skin and developed HLH at the age of 4 years. Pediatr Blood Cancer 2011;56:1136–1139. © 2011 Wiley‐Liss, Inc.
ANZCCSG BabyBrain99; intensified systemic chemotherapy, second look surgery and involved field radiation in young children with central nervous system malignancy
Authors: Bandopadhayay Pratiti , Hassall Timothy E. , Rosenfeld Jeffrey V. , Wheeler Greg C. , Downie Peter A. , Kirby Maria L. , Cohn Richard J. , Sullivan Michael J. , Ashley David M. 
Published: February 2011

AbstractBackgroundANZCCSG BabyBrain99 is a trial of intensive systemic chemotherapy with dual stem cell supported treatment, second look surgery and involved field radiation for children less than four years of age with malignant central nervous system tumours.ProcedureFollowing primary resection, treatment included two courses of cisplatin and oral etoposide, a third course of mobilising chemotherapy (vincristine, etoposide, cyclophosphamide) with stem cell harvest, followed by intensive stem cell supported chemotherapy with high dose cyclophosphamide, etoposide and vincristine. Children were evaluated for second resection before proceeding to a second stem cell supported consolidation therapy consisting of melphalan and carboplatin. Patients then received involved field radiation therapy.ResultsThirty three children with a range of diagnoses were enrolled. Nine percent of children had metastatic disease at diagnosis. Eighteen children completed treatment including irradiation. At the end of induction the event free survival was 70% (54–86). Forty eight percent of children had a complete response, 18% had stable disease and 3% had a partial response. Five year overall survival was 40% (22–56) and event free survival was 33% (17–50). Children in whom a complete resection were achieved had a significantly superior outcome compared to those children without a complete resection, 5 year EFS 60% (45–75), as compared to 22% (13–30), P‐value <0.05.ConclusionsBabyBrain99 confirms that intensive stem cell supported chemotherapy can be safely administered to infants with CNS tumours however overall prognosis remains poor. Importantly, the study reinforces a complete surgical resection as an important favourable prognostic indicator. Pediatr Blood Cancer 2011;56:1055–1061. © 2011 Wiley‐Liss, Inc.
Shared molecular targets in pediatric gliomas and ependymomas
Authors: Tsuruta Toshihisa , Aihara Yasuo , Kanno Hitoshi , Funase Masakazu , Murayama Toshihiko , Osawa Makiko , Fujii Hisaichi , Kubo Osami , Okada Yoshikazu 
Published: February 2011

AbstractBackgroundRecent advances in multidisciplinary treatment approaches have improved the overall prognosis of pediatric brain tumors, but some patients remain refractory to treatment and do poorly. Several molecularly targeted therapies are under development for the treatment of brain tumors, and high‐grade gliomas in adults are a particular area of study.ProcedureTo better understand if these new therapies can be used in pediatric populations, we examined the expression of the following seven marker genes involved in signaling pathways targeted by new therapies: β‐catenin, suppressor of fused (SUFU), erythroblastic leukemia viral oncogene homolog (ERBB) 2, platelet‐derived growth factor receptorα (PDGFRα), proliferating cell nuclear antigen (PCNA), secreted protein acid and rich in cysteine (SPARC), and granulocyte colony‐stimulating factor receptor (G‐CSFR). Samples from 27 patients with the primitive neuroectodermal tumor (PNET)/medulloblastomas (MBs) (n = 8), ependymomas (n = 5), or gliomas (n = 14) were assessed by quantitative real‐time PCR. [Correction made here after initial online publication]. We assigned an EXP score to compare across samples and determined the levels of gene expression among tumor cell types.ResultsGene expression varied among the different tumors, but, within a tumor type, clear expression patterns were seen. The expression of SUFU, ERBB2, and PCNA in metastatic MBs were greater than that seen in non‐metastatic MBs. Most glioma cases highly expressed PDGFRα and G‐CSFR. Additionally, the expression patterns of gliomas and ependymomas were similar (r = 0.77, P = 0.04), but PNET/MBs substantially differed from gliomas (r = −0.37, P = 0.41) or ependymomas (r = 0.23, P = 0.62).ConclusionsThe development of new drugs targeting up‐regulated pathways may be useful for the treatment of pediatric brain tumors. As new drugs are developed, gliomas and ependymomas may be treated with similar compounds. Pediatr Blood Cancer 2011; 57: 1117–1123. © 2011 Wiley Periodicals, Inc.
Assessment of late cardiotoxicity of pirarubicin (THP) in children with acute lymphoblastic leukemia
Authors: Shimomura Yasuto , Baba Reizo , Watanabe Arata , Horikoshi Yasuo , Asami Keiko , Hyakuna Nobuyuki , Iwai Asayuki , Matsushita Takeshi , Yamaji Kazutaka , Hori Toshinori , Tsurusawa Masahito ,   for The Japanese Childhood Cancer and Leukemia Study Group (JCCLSG)
Published: February 2011

AbstractBackgroundPirarubicin (tetrahydropyranyl‐adriamycin: THP) is a derivative of doxorubicin with reportedly less cardiotoxicity in adults. However no studies of cardiotoxicity in children treated with THP have been reported. This study was performed to assess the THP‐induced cardiotoxicity for children with acute lymphoblastic leukemia (ALL).Patients and MethodsThis study comprised 61 asymptomatic patients aged from 7.6 to 25.7 years old. Median follow‐up time after completion of anthracycline treatment was 8.1 years (range: 1.7–12.5). The cumulative dose of THP ranged from 120 to 740 mg/m2 with a median of 180 mg/m2. Patients underwent electrocardiogram (ECG), echocardiography, the 6‐min walk test (6MWT), and measurements of serum brain natriuretic peptide (BNP) before and after exercise.ResultsAll subjects showed normal left ventricular function assessed by echocardiography. Ventricular premature contraction in Holter ECG and reduced exercise tolerance in the 6MWT were detected in 2/46 (3.3%) and 5/41(12.2%), respectively. Abnormal BNP levels were detected in 6/60 (10%) both before and after exercise. The cumulative dose of THP was significantly correlated with BNP levels after exercise (r = 0.27, P = 0.03), but not with any other cardiac measurements. Further analysis revealed that subjects with a high cumulative dose ≧300 mg/m2 had significantly higher BNP levels after exercise compared with subjects with a low cumulative dose <300 mg/m2 (P = 0.04).ConclusionsNo significant cardiac dysfunction was detected in long‐term survivors who received THP treatment. The use of post‐exercise BNP level to indicate high cardiotoxicity risk should be verified by further study. Pediatr Blood Cancer 2011; 57: 461–466. © 2011 Wiley‐Liss, Inc.
The antioxidant status and response to therapy in children with soft tissue sarcomas and neuroblastoma
Authors: Stachowicz‐Stencel Teresa , Synakiewicz Anna , Owczarzak Anna , Aleksandrowicz‐Wrona Ewa , Sliwinska Aleksandra , Lysiak‐Szydlowska Wieslawa , Balcerska Anna 
Published: February 2011

AbstractBackgroundAntioxidant systems in cells maintain the proper homeostasis of reactive oxygen species, which at high concentrations can induce carcinogenesis. The aim of this study was to evaluate the serum levels of ischemia‐modified albumin (IMA), erythrocyte superoxide dismutase (SOD), and glutathione peroxidase (GSH‐Px) as markers for prognosis in children with neuroblastoma (NB) and soft tissue sarcomas (STS), two cancer types for which reliable prognostic factors are needed.ProcedureSOD, GSH‐Px, and IMA were measured before and during responses to therapy assessment in 99 children with NB and STS and in 30 healthy controls.ResultsThere were no statistically significant differences in the erythrocyte SOD and GSH‐Px activities between the patients with cancer and healthy controls. The levels of IMA in patients with STS and NB were found to be significantly higher than in the controls (P = 0.0013; P = 0.0066, and 0.0164, respectively). Decreased activities of SOD and GSH‐Px were found in all patients with poor‐responding (PRS) cancers and decreased SOD activity was found in patients with PRS NB. An increase in GSH‐Px was observed in patients with good‐responding (GR) NB. All patients with GR cancers demonstrated higher SOD and GSH‐Px activities than patients with PRS cancers.ConclusionsWhile determining the levels of specific antioxidants as antioxidant‐barrier parameters in children with cancer may be valuable in predicting therapeutic responses as well as outcomes, additional studies are required. Pediatr Blood Cancer 2011; 57: 561–568. © 2011 Wiley‐Liss, Inc.
A holographic model of the quantum Hall effect
Authors: Bergman O. , Jokela N. , Lifschytz G. , Lippert M. 
Published: February 2011

AbstractWe describe a holographic model of strongly coupled fermions in 2+1 dimensions based on a D7‐brane probe in the background of D3‐branes. The novel D7‐brane embedding is stabilized by turning on a certain worldvolume flux. We study the system at nonzero temperature and charge density, and in the presence of a background magnetic field. We show that Minkowski embeddings, which terminate above the horizon, describe a family of quantum Hall states with filling fractions that are parameterized by a single discrete parameter. The quantization of the Hall conductivity is a direct consequence of the topological quantization of the fluxes. When the magnetic field is varied relative to the charge density away from these discrete filling fractions, the embeddings deform continuously into black hole embeddings, which enter the horizon and describe metallic states.
RAMV: ensuring resource‐aware message verification in VANETs
Authors: Li Zhengming , Chigan Chunxiao 
Published: February 2011

AbstractDriven by road safety applications and commercial applications, verification of messages' content integrity and authenticity in vehicular ad hoc networks (VANETs) is indispensable. However, due to numerous message exchanges in VANETs, message verification often leads to excessive resource consumption and even resource depletion in vehicular nodes. To tackle the scalability issue, a novel resource‐aware message verification (RAMV) scheme is proposed in this paper. With application specific differentiation of the messages to better support road safety applications, RAMV streamlines the existing message verification schemes to keep their resource consumption within the preset resource budget. Meanwhile, the common security requirements for message verification are all properly met by RAMV. Enabling resource‐aware, safety‐upholding, and secure message verification, RAMV is especially appealing to the forthcoming massive deployment of VANETs. Copyright © 2011 John Wiley & Sons, Ltd.
Concise Review: Aldehyde Dehydrogenase Bright Stem and Progenitor Cell Populations from Normal Tissues: Characteristics, Activities, and Emerging Uses in Regenerative Medicine
Authors: Balber Andrew E. 
Published: February 2011

Abstract
Flow cytometry has been used to detect cells that express high levels of the aldehyde dehydrogenase activity in normal tissues. Such ALDH bright (ALDHbr) cell populations have been sorted from human cord blood, bone marrow, mobilized peripheral blood, skeletal muscle, and breast tissue and from the rodent brain, pancreas, and prostate. A variety of hematopoietic, endothelial, and mutiltipotential mesenchymal progenitors are enriched in the human bone marrow, cord, and peripheral blood ALDHbr populations. Multipotential neural progenitors are enriched in rodent brain tissue, and tissue-specific progenitors in the other tissue types. In xenograft models, uncultured human bone marrow and cord ALDHbr cells home to damaged tissue and protect mice against acute ischemic injury by promoting angiogenesis. Uncultured cord ALDHbr cells also deploy to nonhematopoietic tissues and protect animals in CCl4 intoxication and chronic multiorgan failure models. Mouse ALDHbr cells and cells derived from them in culture protect animals in a chronic neurodegenerative disease model. Purifying ALDHbr cells appears to increase their ability to repair tissues in these animal models. Clinical studies suggest that the number of ALDHbr cells present in hematopoietic grafts or circulating in the blood of cardiovascular disease patients is related to clinical outcomes or disease severity. ALDHbr cells have been used to supplement unrelated cord blood transplant and to treat patients with ischemic heart failure and critical limb ischemia. ALDH activity can play several physiological roles in stem and progenitor cells that may potentiate their utility in cell therapy.
Nanotechnology and the treatment of inner ear diseases
Authors: Poe Dennis S , Pyykkö Ilmari 
Published: February 2011

AbstractInner ear diseases such as sensorineural hearing loss and vertigo that cause degeneration of sensory‐neural transducer epithelial cells and nerve cells are extremely common and significantly disabling conditions for which there are almost no effective remedies to date. Efforts are being made to produce agents that could prevent injury, limit its extent, and repair injury or regenerate new end organ and neural cells. These promising drugs or gene therapies may require local administration to the inner ear and even cell‐specific targeting to provide adequate effective doses without systemic toxicity or side effects. Delivery of agents may require controlled or sustained release into the inner ear fluids, cellular cytoplasm, or nucleus of targeted cells. A number of classes of nanoparticles have been investigated that demonstrate the potential for accomplishing these challenging tasks. The strategies and experience to date for functionalizing nanoparticles for inner ear delivery and intracellular release of therapeutic agent into targeted cells will be reviewed in this article. WIREs Nanomed Nanobiotechnol 2011 3 212–221 DOI: 10.1002/wnan.125This article is categorized under:

Diagnostic Tools > In Vivo Nanodiagnostics and Imaging
Therapeutic Approaches and Drug Discovery > Nanomedicine for Neurological Disease
Implantable Materials and Surgical Technologies > Nanotechnology in Tissue Repair and Replacement
Non‐invasive measurements of atherosclerosis in adult cystinosis patients
Authors: Besouw Martine T. P. , Holewijn Suzanne , Levtchenko Elena N. , Janssen Mirian C. H. 
Published: February 2011

AbstractBackgroundCystinosis is characterized by intralysosomal cystine accumulation, causing end stage renal disease around 10 years of age if not treated with cysteamine. Cystine accumulation in blood vessels might increase atheroma formation or arterial stiffness and therefore increase the risk for cardiovascular disease (CVD). This study aimed to investigate the risk for CVD by non‐invasive measures of atherosclerosis (NIMA) and to evaluate the effect of cysteamine treatment.Patients and methodsThirteen Dutch adult cystinosis patients were included. White blood cell (WBC) cystine levels, glomerular filtration rate (GFR) and concommitant medications were obtained from medical records. NIMA included carotid intima‐media thickness (cIMT, n = 13), pulse wave velocity (PWV, n = 8) and pulse wave analysis (PWA, n = 6).ResultsGFR ranged between 4‐95 mL/min/1.73 m². All but one patient were treated with cysteamine, mean WBC cystine values ranged between 0.34‐1.64 nmol cystine/mg protein, 8 patients had mean WBC cystine levels <1 nmol cystine/mg protein. When compared to healthy subjects, cIMT and PWV levels were above normal values in 1 patient for each measure. PWA measurements showed high augmentation index in three patients who did not receive lipid‐lowering medication. When corrected for renal function, cIMT and PWV levels were within the normal range.ConclusionYoung adult cystinosis patients treated with cysteamine have no additional risk for CVD when compared to patients with chronic kidney disease of other causes.
Transition of young adults with phenylketonuria from pediatric to adult care
Authors: Mütze Ulrike , Roth Annika , Weigel Johannes F. W. , Beblo Skadi , Baerwald Christoph G. , Bührdel Peter , Kiess Wieland 
Published: February 2011

AbstractBackgroundTransition from pediatric to adult health care is a particularly vulnerable period for patients with inborn metabolic diseases. Aim of the present study was to evaluate the current transition situation of patients with phenylketonuria (PKU) in Leipzig, Germany, by analysis of the medical care, metabolic control, patients’ satisfaction, socio‐economic and psychosocial status, in order to identify areas of weakness and potential improvement.MethodsPatients who had been transferred from pediatric to adult medical care between 2005 and 2008 were identified. An interview was performed using a questionnaire. Pediatric case notes and the present physician's case notes were analyzed retrospectively. Socio‐demographic data were compared to data derived from the annual statistics of the city of Leipzig, Germany in 2008.Resultsseventy two transferred patients were identified and included in the study, 48 patients responded to the questionnaire, the data of 24 non‐responders were analysed retrospectively. About 90% of the responding patients with PKU were satisfied with the current transition situation. However, they agreed to several suggestions of improvement. Most specifically an interdisciplinary appointment before the definite transfer to the adult clinics was asked for. At the time of transition, most of the patients were in good metabolic control according to current treatment guidelines (median dried blood phenylalanine concentration 853 μmol/l before versus 690 μmol/l after transition). Of the interviewed patients 92% were still on a low phenylalanine diet in combination with the intake of a phenylalanine free amino acid mixture. Of the interviewees 77% carried a secondary school certificate or a secondary modern school qualification, but only 19% had achieved senior high school diploma (controls 38.2%). Marital status was comparable with the population of Leipzig. However, fewer patients with PKU had children (15% versus 37%).ConclusionTransition of patients with PKU from pediatric to adult care seems to be successful in Leipzig. Patients were mostly satisfied with the transition situation. Still, some suggestions for improvements appeared to be desirable. During transition medical care and metabolic control were stable. However, with regard to psychosocial and socioeconomic data differences to the control population were detected.
Dietary n‐3 Fatty Acid Deficiency in Mice Enhances Anxiety Induced by Chronic Mild Stress
Authors: Harauma Akiko , Moriguchi Toru 
Published: February 2011

AbstractDocosahexaenoic acid (DHA), is the major polyunsaturated fatty acid in the brain and is important for both the structure and the function of the nervous system. Mice were fed either an n‐3 fatty acid deficient (n‐3 Def) or adequate (n‐3 Adq) diet for two generations. The mice were housed under two conditions, as a group or in isolation and the major point of the study was to determine whether n‐3 fatty acid deficiency would enhance isolation‐induced anxiety. Isolation stress was assessed using the novelty suppressed feeding paradigm (NSF) after a 3‐week period and the test lasted a maximal duration of 10 min. The number of successful mice consuming food pellets within 5 min in the n‐3 Def diet group was low in both housing conditions (group housing, 33% and isolated, 30%), but was 92% in the group housed and 50% in the isolated group when fed the n‐3 Adq diet. In the subsequent 5 min period, the isolated housing group consuming the n‐3 Adq diet increased up to 79% and the group housed animals fed the n‐3 Def diet increased to 67%. However, those that consumed the n‐3 deficient diet combined with isolation stress exhibited no increase. These results suggested that the n‐3 deficient mice had increased anxiety that was enhanced by the chronic mild stress of social isolation.
Improved Methods for the Fatty Acid Analysis of Blood Lipid Classes
Authors: Ichihara Ken'ichi , Yoneda Kumiko , Takahashi Ayuko , Hoshino Noriko , Matsuda Motoyoshi 
Published: February 2011

AbstractTwo improved methods have been developed for preparation of fatty acid methyl esters (FAME) from major O‐ester lipid classes in blood, i.e., cholesterol ester, triacylglycerol, and glycerophospholipids. The methods involve simple operations, and use neither harmful solvents such as chloroform or benzene nor highly reactive volatile reagents such as acetyl chloride. The FAME synthesis reaction proceeds under mild temperature conditions. The methods include (1) extraction of lipids from 0.2 ml of blood with 0.2 ml of tert‐butyl methyl ether and 0.1 ml of methanol, (2) separation of the total lipids into lipid classes using a solid‐phase extraction column or thin‐layer chromatography, and (3) methanolysis of each lipid class at room temperature or at 45 °C. In all the operations, solvent concentration is performed only once prior to gas–liquid chromatography (GC). No noticeable differences in composition determined by GC have been found between FAME prepared by the present methods and those prepared by a conventional method involving lipid extraction with chloroform/methanol. The mild reaction and simplified procedures of the present methods enabled safe and reproducible analysis of the fatty acid compositions of the major ester‐lipid classes in blood.
Investigating Some Physicochemical Properties and Fatty Acid Composition of Native Black Mulberry (Morus nigra L.) Seed Oil
Authors: Gecgel Umit , Velioglu Serap Durakli , Velioglu Hasan Murat 
Published: February 2011

AbstractThe physicochemical properties of seed and seed oil obtained from the native black mulberry (Morus nigra L.) were investigated in 2008 and 2009. The results showed that the seed consisted of 27.5–33% crude oil, 20.2–22.5% crude protein, 3.5–6% ash, 42.4–46.6% carbohydrate and 112.2–152.0 mg total phenolics/100 g. Twenty different fatty acids were determined, with the percentages varying from 0.02% myristic acid (C14:0) to 78.7% linoleic acid (C18:2). According to the GC analysis of fatty acid methyl esters, linoleic acid (C18:2), followed by palmitic acid (C16:0), oleic acid (C18:1) and stearic acid (C18:0) were the major fatty acids, which together comprised approximately 97% of the total identified fatty acids. High C18:2 content (average 73.7%) proved that the black mulberry seed oil is a good source of the essential fatty acid, linoleic acid. Linolenic acid (C18:3) was also found in a relatively lower amount (0.3–0.5%). The α‐tocopherol content was found to be between 0.17 and 0.20 mg in 100 g seed oil. The main sterols in the mulberry seed oil were β‐sitosterol, Δ5‐avenasterol, Δ5, 23‐stigmastadienol, clerosterol, sitosterol and Δ5, 24‐stigmastadienol. The present study stated that the native black mulberry seed oil can be used as a nutritional dietary substance and has great usage potential.