bluuebunny/crossref_metadata_2025_split huggingface dataset:
Distribution of glial cell line‐derived neurotrophic factor receptor alpha‐1 in the brain of adult zebrafish
Authors: Carla Lucini , Bruna Facello , Lucianna Maruccio , Fernanda Langellotto , Paolo Sordino , Luciana Castaldo 
Published: June 2010

AbstractGlial cell line‐derived neurotrophic factor (GDNF) is a potent trophic factor for several types of neurons in the central and peripheral nervous systems. The biological activity of GDNF is mediated by a multicomponent receptor complex that includes a common transmembrane signaling component (the rearranged during transfection (RET) proto‐oncogene product, a tyrosine kinase receptor) as well as a GDNF family receptor alpha (GFRalpha) subunit, a high‐affinity glycosyl phosphatidylinositol (GPI)‐linked binding element. Among the four known GFRalpha subunits, GFRalpha1 preferentially binds to GDNF. In zebrafish (Danio rerio) embryos, the expression of the GFRalpha1a and GFRalpha1b genes has been shown in primary motor neurons, the kidney, and the enteric nervous system. To examine the activity of GFRalpha in the adult brain of a lower vertebrate, we have investigated the localization of GFRalpha1a and GFRalpha1b mRNA and the GFRalpha1 protein in zebrafish. GFRalpha1a and GFRalpha1b transcripts were observed in brain extracts by reverse transcription‐polymerase chain reaction. Whole‐mount in‐situ hybridization experiments revealed a wide distribution of GFRalpha1a and GFRalpha1b mRNAs in various regions of the adult zebrafish brain. These included the olfactory bulbs, dorsal and ventral telencephalic area (telencephalon), preoptic area, dorsal and ventral thalamus, posterior tuberculum and hypothalamus (diencephalon), optic tectum (mesencephalon), cerebellum, and medulla oblongata (rhombencephalon). Finally, expression patterns of the GFRalpha1 protein, detected immunohistochemically, correlated well with the mRNA expression and provided further insights into translational activity at the neuroanatomical level. In conclusion, the current study demonstrated that the presence of GFRalpha1 persists beyond the embryonic development of the zebrafish brain and, together with the GDNF ligand, is probably implicated in the brain physiology of an adult teleost fish.
Involvement of stathmin 1 in the neurotrophic effects of PACAP in PC12 cells
Authors: Dejda Agnieszka , Chan Philippe , Seaborn Tommy , Coquet Laurent , Jouenne Thierry , Fournier Alain , Vaudry Hubert , Vaudry David 
Published: June 2010

J. Neurochem.(2010)114, 1498–1510.AbstractRat pheochromocytoma PC12 cells have been widely used to investigate the neurotrophic activities of pituitary adenylate cyclase‐activating polypeptide (PACAP). In particular, PACAP has been shown to promote differentiation and to inhibit apoptosis of PC12 cells. In order to identify the mechanisms mediating these effects, we sought for proteins that are phosphorylated upon PACAP treatment. High‐performance liquid chromatography and 2D gel electrophoresis analysis, coupled with mass spectrometry, revealed that stathmin 1 is strongly phosphorylated within only 5 min of exposure to PACAP. Western blot experiments confirmed that PACAP induced a robust phosphorylation of stathmin 1 in a time‐dependent manner. On the other hand, PACAP decreased stathmin 1 gene expression. Investigations of the signaling mechanisms known to be activated by PACAP revealed that phosphorylation of stathmin 1 was mainly mediated through the protein kinase A and mitogen‐activated protein kinase pathways. Blockage of stathmin 1 expression with small interfering RNA did not affect PC12 cell differentiation induced by PACAP but reduced the ability of the peptide to inhibit caspase 3 activity and significantly decreased its neuroprotective action. Taken together, these data demonstrate that stathmin 1 is involved in the neurotrophic effect of PACAP in PC12 cells.
Migraine in the Pediatric Population—Evolving Concepts
Authors: Bigal Marcelo E. , Arruda Marco A. 
Published: June 2010

(Headache2010;50:1130‐1143)Studying the prevalence of headaches at age extremes is of important clinical relevance. Pediatric studies inform us about determinants of incident disease; studies of elderly populations inform us about the long‐term consequences of headaches, as well as about determinants of headache remission. As with other subspecialties of headache research, research on pediatric headache is an evolving field. However, although substantial advances have been achieved in understanding headaches in adolescents, knowledge of early childhood headaches is not as advanced conceptually. This review provides a theoretical framework for our current understanding, then summarize the results of a large, ongoing, epidemiological study in pre‐adolescent children.It is clear that both in adolescents and in pre‐adolescents, migraine is frequent. Diagnostic criteria for migraine and chronic migraine are certainly over‐restrictive for young children. Migraine often lasts less than 1 hour in young children. A vulnerable population at risk of migraine progression also exists, likely reflecting increased biological predisposition, but also early life exposures. Indeed, it seems that even prenatal exposures of certain substances may increase the risk of migraine progression. Of relevance is the frequency of headaches within a family. Finally, migraine seems to be associated with behavioral hyperactivity, but is not comorbid with attention‐deficit disorder and hyperactivity.
Puberty‐Dependent Sleep Regulation and Alcohol Use in Early Adolescents
Authors: Pieters Sara , Van Der Vorst Haske , Burk William J. , Wiers Reinout W. , Engels Rutger C. M. E. 
Published: June 2010

Background:  Research has shown a bi‐directional relation between alcohol use and sleep regulation in adults. Much less is known about this association in early adolescents, while profound puberty‐dependent transitions regarding sleep patterns take place in early adolescence. Moreover, puberty has been associated with an increase in alcohol use of adolescents.Methods:  In this study, we investigated the associations between pubertal development, sleep preference, sleep problems, and alcohol use in 431 early adolescents (mean age: 13.66). Second, it was studied whether the associations changed when controlling for adolescent internalizing and externalizing problems. Furthermore, we included gender as a moderator on all the associations.Results:  Results showed that pubertal development was positively associated with sleep problems and more evening‐type tendencies (e.g., favoring later bedtimes), which in turn were positively related to alcohol use. Underlying psychopathology, gender and educational level did not change these relationships.Conclusions:  From this study, it can be concluded that both puberty and sleep regulation are important factors in explaining alcohol use in early adolescence.
The Moderating Effect of Religiosity on the Genetic Variance of Problem Alcohol Use
Authors: Button Tanya M. M. , Hewitt John K. , Rhee Soo H. , Corley Robin P. , Stallings Michael C. 
Published: June 2010

Background:  Previous studies have demonstrated that the heritability of alcohol‐related phenotypes depends upon the social background in which it is measured (e.g., urbanicity, marital status, and religiosity). The aim of the current study was to identify whether religiosity moderated the genetic variance of problem alcohol use in men and women at two time points: adolescence and early adulthood.Method:  Participants were 312 male MZ pairs, 379 female MZ pairs, 231 male DZ pairs, 235 female DZ pairs, and 275 opposite sex DZ pairs participating in the University of Colorado Center on Antisocial Drug Dependence. Religiosity was measured using the Value on Religion Scale (Jessor and Jessor, 1977), and problem alcohol use was measured using the Composite International Diagnostic Interview–Substance Abuse Module (Cottler et al., 1989). Data were analyzed using a model‐fitting approach to the twin data.Results:  In adolescence, genetic variance of problem alcohol use decreased significantly with increasing levels of religiosity in both men and women, whereas in early adulthood, religiosity did not moderate the genetic variance of problem alcohol use in either men or women.Conclusion:  Religiosity appears to moderate the genetic effects on problem alcohol use during adolescence, but not during early adulthood. The reduced genetic variance for problem alcohol use in adolescence may be the consequence of greater social control in adolescence than in young adulthood.
Toward a Neurobehavioral Profile of Fetal Alcohol Spectrum Disorders
Authors: Mattson Sarah N. , Roesch Scott C. , Fagerlund Åse , Autti‐Rämö Ilona , Jones Kenneth Lyons , May Philip A. , Adnams Colleen M. , Konovalova Valentina , Riley Edward P. ,   the CIFASD
Published: June 2010

Background:  A primary goal of recent research is the development of neurobehavioral profiles that specifically define fetal alcohol spectrum disorders (FASD), which may assist differential diagnosis or improve treatment. In the current study, we define a preliminary profile using neuropsychological data from a multisite study.Methods:  Data were collected using a broad neurobehavioral protocol from 2 sites of a multisite study of FASD. Subjects were children with heavy prenatal alcohol exposure and unexposed controls. The alcohol‐exposed group included children with and without fetal alcohol syndrome (FAS). From 547 neuropsychological variables, 22 variables were selected for analysis based on their ability to distinguish children with heavy prenatal alcohol exposure from nonexposed controls. These data were analyzed using latent profile analysis (LPA).Results:  The results indicated that a 2‐class model best fit the data. The resulting profile was successful at distinguishing subjects with FAS from nonexposed controls without FAS with 92% overall accuracy; 87.8% of FAS cases and 95.7% of controls were correctly classified. The same analysis was repeated with children with heavy prenatal alcohol exposure but without FAS and nonexposed controls with similar results. The overall accuracy was 84.7%; 68.4% of alcohol‐exposed cases and 95% of controls were correctly classified. In both analyses, the profile based on neuropsychological variables was more successful at distinguishing the groups than was IQ alone.Conclusions:  We used data from 2 sites of a multisite study and a broad neuropsychological test battery to determine a profile that could be used to accurately identify children affected by prenatal alcohol exposure. Results indicated that measures of executive function and spatial processing are especially sensitive to prenatal alcohol exposure.
Storage age of transfused platelets and outcomes after cardiac surgery
Authors: Welsby Ian J. , Lockhart Evelyn , Phillips‐Bute Barbara , Campbell Mary Lee , Mathew Joseph P. , Newman Mark F. , Peterson Eric , Milano Carmelo A. ,   Mark Stafford‐Smith for members of the Cardiothoracic Anesthesiology Research Endeavors (C.A.R.E.), Department of Anesthesiology, Duke University Medical Center
Published: June 2010

BACKGROUND: The relationship between duration of platelet (PLT) storage, currently limited to 5 days, and surgical outcomes has not been established. We tested the hypothesis that PLT storage age was associated with adverse outcomes.STUDY DESIGN AND METHODS: A retrospective cohort of aortocoronary bypass (CABG) surgery patients from January 1996 to January 2005 receiving one or more PLT transfusions was selected for study. The composite primary (“short‐term”) outcome was 30‐day mortality or prolonged hospital stay. Secondary outcomes included complications and survival to annual follow‐up. Multivariable logistic regression models and Cox proportional hazards regression analysis evaluated the association between PLT storage age and outcomes, expressed as an odds ratio (OR) or hazard ratio with 95% confidence intervals (CIs), respectively.RESULTS: PLT transfusion was administered to 3272 of 10,275 CABG patients and 2578 received units of known storage age, which ranged between 2 and 5 days (median, 4 days; 25th percentile, 3 days; 75th percentile, 5 days). The mortality rate for the 1637 patients receiving a single plateletpheresis transfusion was 3.8%, while 21.6% experienced a prolonged hospital stay or death. After adjusting for the number of PLT and red blood cell (RBC) units transfused, RBC storage age, and preoperative mortality risk, there was no association between PLT storage age and short‐term outcome (OR, 1.01; 95% CI, 0.90‐1.14), survival (hazard ratio [HR], 1.04; 95% CI, 0.96‐1.13), or postoperative infections.CONCLUSIONS: PLT storage age was not associated with adverse short‐term outcomes, decreased long‐term survival, or infections after cardiac surgery.
Cell cloning‐based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes
Authors: Nectoux J. , Fichou Y. , Rosas‐Vargas H. , Cagnard N. , Bahi‐Buisson N. , Nusbaum P. , Letourneur F. , Chelly J. , Bienvenu T. 
Published: June 2010

AbstractMore than 90% of Rett syndrome (RTT) patients have heterozygous mutations in the X‐linked methyl‐CpG binding protein 2 (MECP2) gene that encodes the methyl‐CpG‐binding protein 2, a transcriptional modulator. Because MECP2 is subjected to X chromosome inactivation (XCI), girls with RTT either express the wild‐type or mutant allele in each individual cell. To test the consequences of MECP2 mutations resulting from a genome‐wide transcriptional dysregulation and to identify its target genes in a system that circumvents the functional mosaicism resulting from XCI, we carried out gene expression profiling of clonal populations derived from fibroblast primary cultures expressing exclusively either the wild‐type or the mutant MECP2 allele. Clonal cultures were obtained from skin biopsy of three RTT patients carrying either a non‐sense or a frameshift MECP2 mutation. For each patient, gene expression profiles of wild‐type and mutant clones were compared by oligonucleotide expression microarray analysis. Firstly, clustering analysis classified the RTT patients according to their genetic background and MECP2 mutation. Secondly, expression profiling by microarray analysis and quantitative RT‐PCR indicated four up‐regulated genes and five down‐regulated genes significantly dysregulated in all our statistical analysis, including excellent potential candidate genes for the understanding of the pathophysiology of this neurodevelopmental disease. Thirdly, chromatin immunoprecipitation analysis confirmed MeCP2 binding to respective CpG islands in three out of four up‐regulated candidate genes and sequencing of bisulphite‐converted DNA indicated that MeCP2 preferentially binds to methylated‐DNA sequences. Most importantly, the finding that at least two of these genes (BMCC1 and RNF182) were shown to be involved in cell survival and/or apoptosis may suggest that impaired MeCP2 function could alter the survival of neurons thus compromising brain function without inducing cell death.
Childhood near‐tetraploid acute lymphoblastic leukemia: an EGIL study on 36 cases
Authors: Lemež Petr , Attarbaschi Andishe , Béné Marie C. , Bertrand Yves , Castoldi Gianluigi , Forestier Erik , Garand Richard , Haas Oskar A. , Kagialis‐Girard Sandrine , Ludwig Wolf‐Dieter , Matutes Estella , Mejstříková Ester , Pages Marie‐Pierre , Pickl Winfried , Porwit Anna , Orfao Alberto , Schabath Richard , Starý Jan , Strobl Herbert , Talmant Pascaline , Van′t Veer Mars B. , Zemanová Zuzana ,   for the European Group for the Immunological Characterization of Leukemias (EGIL)
Published: June 2010

AbstractObjectives:  Patients with near‐tetraploid (karyotype: 81 – 103 chromosomes) acute lymphoblastic leukemia (NT‐ALL) constitute about 1% of childhood ALL and data reported on them are limited and controversial. The aim of the study was to enlarge the knowledge on these rarely occurring ALL.Methods:  The members of the European Group for Immunophenotyping of Leukemias (EGIL) searched retrospectively their databases for NT‐ALL patients.Results:  We collected data of 36 European children from seven European countries with NT‐ALL diagnosed since 1992. All patients reached complete remission (CR) after induction chemotherapy. Their blasts were negative for peroxidase and BCR‐ABL1. Ten children were diagnosed as T‐cell ALL (T‐ALL) EGIL categories (T‐I n = 2, T‐II n = 2, T‐III n = 3, T‐IV n = 3) and four displayed various structural chromosomal abnormalities. Eight of 10 T‐ALL remained in 1st CR; one died in CR from sepsis and one is alive in 2nd CR. Median survival was 88 (7–213) months. B‐cell precursor (BCP) ALL was diagnosed in 26 children. Thirteen were positive for ETV6‐RUNX1 and are alive in 1st CR for 32–147 months. Ten children were ETV6‐RUNX1 negative and remained in 1st CR for 16–163 months. One girl with hypodiploid and NT metaphases and ETV6‐RUNX1‐negative BCP‐ALL and one of two boys with NT‐BCP‐ALL not examined for ETV6‐RUNX1 died of infection after stem cell transplantation in 2nd/3rd CR. Secondary myelodysplastic syndrome developed in two patients with NT‐BCP‐ALL.Conclusions:  Our data demonstrate immunophenotypic, cytogenetic, and molecular heterogeneity of NT‐ALL and favorable prognosis of most NT‐ALL across different immunophenotypic and/or genetic ALL subtypes.
IL‐1 receptor antagonist gene polymorphism in idiopathic recurrent spontaneous abortion in a Chinese Han population
Authors: Dai M. Z. , Pan Y. Q. , Xu D. P. , Chen X. J. , Qian R. J. , Chen D. H. , Cui T. W. , Lin A. , Yan W. H. 
Published: June 2010

SummaryInterleukin‐1 receptor antagonist (IL‐1Ra) has been supposed to play important roles in pregnancy. The purpose of this study was to evaluate the association between the polymorphisms of IL‐1Ra gene (IL1RN) variable number tandem repeat (VNTR) in intron 2 with idiopathic recurrent spontaneous abortion (RSA). Ninety‐two RSA patients and hundred normal women with at least one live birth and no history of miscarriage were included in the study. Frequencies of the IL1RN alleles and genotypes were determined. Data revealed that the prevalence of IL1RN allele and genotype was not significant between the RSA and control group (all P > 0.05). Our finding indicated that the polymorphism VNTR of IL1RN gene in intron 2 may not be a risk factor for RSA in the Chinese Han population.
Sequence of a novel HLA‐B*51 allele in a volunteer haematopoietic stem cell donor
Authors: Cosentini E. , Longhi E. , Frison S. , Luongo V. , Mantovani M. , Ciardiello G. , Bruno P. , Poli F. 
Published: June 2010

SummaryWe describe a novel HLA‐B*51 allele detected by DNA direct sequencing. The sequence of this allele has been officially named B*51:78 as a confirmatory sequence. This new allele nucleotide sequence differs from HLA‐B*51:01:01 for two point mutations in exon 2 where codons 79–80 change from CGG‐ATC to CGC‐ACC (p.Ile80Thr).
Genetic variants of the inflammatory C‐reactive protein and schizophrenia in Armenian population: a pilot study
Authors: Zakharyan R. , Chavushyan A. , Khoyetsyan A. , Stahelova A. , Arakelyan A. , Boyajyan A. , Mrazek F. , Petrek M. 
Published: June 2010

SummaryC‐reactive protein (CRP) is an inflammation marker implicated in the pathogenesis of schizophrenia. To investigate association of the CRP rs1417938, rs1800947, rs1205 variants with susceptibility to schizophrenia 208 unrelated Armenians (103 patients and 105 healthy controls) were genotyped. In this pilot study, none of studied variants was associated with schizophrenia.
Distribution of HLA‐B27 in Romanian spondyloarthritides patients
Authors: Popa O. M. , Bojinca M. , Bojinca V. , Ciofu C. , Dutescu M. I. , Bardan A. , Sfrent‐Cornateanu R. , Petrek M. , Bara C. , Popa L. 
Published: June 2010

SummaryThe analysis of 310 Romanian spondyloarthritides patients confirmed the association of the HLA‐B27 marker with the susceptibility to different diseases of this group. For ankylosing spondylitis, the HLA‐B27 frequency in Romanian patients (72.1%) was similar to that found in several regions in the Mediterranean area.
Recent Case Developments in Health Law
Authors: Wevers Kate 
Published: June 2010

A 2009 decision by a Florida state trial court marks a recent addition to the long line of cases authorizing compelled medical treatment of pregnant women for the benefit of their unborn children. Despite recurring judicial and academic consideration of the issues involved, there is no consensus regarding the correct approach to take in cases that pit a woman's right to refuse medical treatment against the state's interest in protecting fetal health. Burton v. Florida, currently under appeal to Florida's First District Court of Appeals, demonstrates the difficulty of emergency decision-making in this area and the need for robust ex ante consideration of the important interests at stake.In March 2009, pursuant to a petition by the State of Florida, the Leon County Circuit Court overrode a pregnant woman's informed refusal to consent to medical treatment, and ordered her to remain a hospital inpatient and submit to medical treatment.
Oseltamivir‐resistant influenza A 2009 H1N1 virus in immunocompromised patients
Authors: Couturier Brianne A. , Bender Jeffrey M. , Schwarz Monica A. , Pavia Andrew T. , Hanson Kimberly E. , She Rosemary C. 
Published: June 2010

Please cite this paper as: Couturier et al. (2010). Oseltamivir‐resistant influenza A 2009 H1N1 virus in immunocompromised patients. Influenza and Other Respiratory Viruses 4(4), 199–204.Background  First‐line treatment of influenza A 2009 H1N1 relies on neuraminidase inhibitors such as oseltamivir. Resistance conferred by the H275Y neuraminidase gene mutation is concerning and likely to increase.Objectives  To characterize oseltamivir resistance in a hospital‐based patient population.Patients and Methods  All available respiratory specimens positive for influenza A by direct fluorescent antibody, RT‐PCR, or culture from patients at the University of Utah 5/09‐12/09 were collected. Specimens were confirmed as 2009 H1N1 by the Utah Department of Health. RT‐PCR and pyrosequencing were used to test for the H275Y mutation (CDC protocol). PyroMark Q24 AQ software (Qiagen, Valencia, CA, USA) was used to allow for quantitative H275Y mutation analysis. Medical records of patients with resistant virus were reviewed.Results  We tested 191 influenza A virus‐positive samples from 187 unique patients. Fifty (27%) patients were hospitalized. Four patient specimens (2·1%) were found to carry the H275Y mutation. Three patients were hospitalized, representing 6% of inpatient samples tested. Three patients had undergone hematopoietic stem cell transplant in the past year. Two patients died. Their influenza viruses were confirmed to be oseltamivir‐resistant at an independent reference laboratory and through the Center for Disease Control and Prevention (CDC). One patient reported no history of prior oseltamivir exposure.Conclusions  Widespread oseltamivir resistance among 2009 H1N1 remains a potential threat. Rapid techniques, such as pyrosequencing, which has the additional benefit of identifying mixed mutant populations of virus, may play a key role in identifying at‐risk individuals and potentially unsuspected cases. Targeted surveillance of immunocompromised patients will be critical toward improving future influenza planning and therapy.