bluuebunny/crossref_metadata_2025_split huggingface dataset:
Interleukin‐1 alpha genotype and outcome of unrelated donor haematopoietic stem cell transplantation for chronic myeloid leukaemia
Authors: Mehta Parinda A. , Eapen Mary , Klein John P. , Gandham Sharavi , Elliott James , Zamzow Tiffany , Combs Michelle , Aplenc Richard , MacMillan Margaret L. , Weisdorf Daniel J. , Petersdorf Effie , Davies Stella M. 
Published: March 2007

SummaryInterleukin‐1 alpha (IL‐1α) is a pro‐inflammatory cytokine that is implicated in the initiation/maintenance of graft‐versus‐host disease (GVHD) and the immune response to infection. A cytosine (C) to thymine (T) transition at position −889 is believed to influence gene transcription. A previous single institution study showed that the presence of at least oneIL1AT allele in the donor was associated with improved survival after unrelated donor haematopoietic stem cell transplant and lower transplant‐related mortality if the donor and recipient each possessed theIL1AT allele. The present study sought to confirm these results in a larger homogeneous population. Thus the study population included 426 patients older than 18 years with chronic myeloid leukaemia (CML), transplanted in first chronic phase and receiving a total body irradiation and cyclophosphamide preparative regimen. Donor recipient pairs were categorised into four groups according to the presence or absence of anIL1AT allele in the donor and recipient. There were no significant differences in patient, donor and transplant characteristics between the groups. We did not observe an association with IL‐1αgenotype in donor and/or recipient and transplant‐outcome. These data suggest that the outcome of unrelated donor transplant for CML is not influenced by IL‐1αgenotype.
Mothers' knowledge of young child development in a developing country
Authors: Ertem I. O. , Atay G. , Dogan D. G. , Bayhan A. , Bingoler B. E. , Gok C. G. , Ozbas S. , Haznedaroglu D. , Isikli S. 
Published: March 2007

AbstractBackground  Although interventions on child development target supporting mothers' relationships with their children, little is known about maternal knowledge of child development in developing countries. The purpose of this study was to determine maternal knowledge about child development in Turkey.Methods  The Caregiver Knowledge of Child Development Inventory (CKCDI) developed for this study consisted of questions on when children begin to demonstrate developmental skills and when caregivers should provide opportunities for developmental stimulation.Results  In total, 1200 mothers of children aged ≤3 years chosen by random population‐based sampling were administered the CKCDI in their homes. Of the 1055 mothers with complete data (88%), 64% had at most secondary school education and 11% were employed. The median CKCDI questionnaire score was 19 (highest possible score 40). Mothers believed that most developmental skills and activities should occur at later than normative ages and most mothers did not know that sight (52%), vocalization (79%), social smiling (59%) and overall brain development (68%) begins in the early months of life. In a linear regression model with CKCDI score as the dependent and age of child, number of children, maternal and paternal age and education as the independent variables, higher maternal education and lower number of children were found to be independent predictors of higher CKCDI scores (P < 0.001).Conclusions  These results illustrate the degree to which caregivers from Turkey may be lacking information on early childhood development and that caregiver knowledge needs to be further investigated so that culture‐specific and effective interventions can be planned.
Fathering and adolescents' psychological adjustment: the role of fathers' involvement, residence and biology status
Authors: Flouri E. 
Published: March 2007

AbstractBackground  Studies on fathering and child mental health are now increasingly looking for specificity in children's psychological adjustment, indicating whether the impact of fathering is diagnostically specific or non‐specific.Methods  Data from 435 fathers of secondary school‐aged children in Britain were used to explore the association between resident biological fathers', non‐resident biological fathers' and stepfathers' involvement and children's total difficulties, prosocial behaviour, emotional symptoms, conduct problems, hyperactivity and peer problems (all measured with the Strengths and Difficulties Questionnaire) in adolescence.Results  After controlling for child‐, father‐ and family‐related factors, fathers' involvement was negatively associated with children's total difficulties and hyperactivity, was positively associated with children's prosocial behaviour, and was unrelated with children's emotional symptoms, conduct problems and peer problems. There was no non‐resident biological father effect. Compared with resident biological fathers, stepfathers reported more total difficulties, conduct problems and hyperactivity in their children even after adjusting for involvement.Conclusions  Whether this reflects stepfathers' low tolerance levels or biological fathers' complacency, as sociobiologists would argue, or whether this is due to pre‐existing predispositions of children in families which separate and restructure, to the effects of these multiple family changes or to the high exposure of children in restructured families to parental risk factors, is, given the data available and the study design, unclear. However, this study showed that, compared with their peers in biological father families, adolescents in stepfather families are perceived to be at higher risk of behaviour problems, and that father involvement is related to specific aspects of child adjustment.
Long‐term effects of growth hormone (GH) on bone mineral status and bone turnover markers in patients with isolated GH deficiency and multiple pituitary hormone deficiency
Authors: Gonc E. Nazli , Kandemir Nurgun 
Published: March 2007

SummaryObjective  This study was designed to assess the long‐term effects of growth hormone (GH) replacement therapy on bone mass and bone turnover markers in children with isolated GH deficiency (IGHD) and multiple pituitary hormone deficiency (MPHD).Materials and methods  Fifty children (35 IGHD, 15 MPHD) receiving GH replacement therapy were enrolled in the study. The patients were followed for 38·6 ± 15·7 months (1–5 years). Bone mineral density (BMD) of the lumbar region and bone turnover markers [PTH, osteocalcin, bone‐specific alkaline phosphatase (boneALP), and the carboxyterminal propeptide of type‐1 collagen (CPP‐I)] were assessed annually.Results  The height standard deviation score (SDS) of patients with IGHD and MPHD at diagnosis was statistically significant (P = 0·012), and the change in height SDS during 3 years (Δheight SDS3 years) was statistically similar between these two groups (P = 0·651). The BMD z‐scores of the two groups were comparable at the start of GH therapy (P = 0·083), and then increased in both groups similarly during 5 years of GH replacement therapy (F = 0·349, P = 0·567). When the BMD z‐scores during 5 years of GH therapy were analysed in the IGHD and MPHD groups separately, it was found that the BMD z‐score increased significantly in IGHD (P < 0·001) but the increase was not significant in MPHD (P = 0·140). Multiple regression analysis showed that the change in BMD z‐score during 3 years of GH therapy (ΔBMD z‐score3 years) was predicted by the BMD z‐score and height SDS at the start of GH therapy and by Δheight SDS3 years in the IGHD group (t = −2·582, P = 0·02; t = 2·322, P = 0·034 and t = 2·908, P = 0·01, respectively). Age and BMD z‐score and height SDS at diagnosis were found to have predictive values for the ΔBMD z‐score3 years (t = −3·652, P = 0·022; t = −4·073, P = 0·015 and t = 3·389, P = 0·028, respectively) in the MPHD group. The changes in boneALP, osteocalcin, CPP‐1 and PTH levels during the therapy were statistically similar between the IGHD and MPHD groups.Conclusion  BMD increased during GH therapy in the IGHD and MPHD groups. GH had a positive effect on bone mass in the short as well as the long term. Early diagnosis and treatment could improve peak bone mass in patients with MPHD. The time and dose of sex steroids for pubertal induction and progression, which mimics physiological secretion, might also contribute to bone accretion in patients with MPHD.
Detection of RET/PTC, TRK and BRAF mutations in preoperative diagnosis of thyroid nodules with indeterminate cytological findings
Authors: Sapio Maria Rosaria , Posca Daniela , Raggioli Angelo , Guerra Anna , Marotta Vincenzo , Deandrea Maurilio , Motta Manuela , Limone Paolo Piero , Troncone Giancarlo , Caleo Alessia , Rossi Guido , Fenzi Gianfranco , Vitale Mario 
Published: March 2007

SummaryBackground  Fine‐needle aspiration biopsy (FNAB) is the primary means to distinguish benign from malignant nodules and select patients for surgery. However, adjunctive diagnostic tests are needed because in 20–40% of cases the FNAB result is uncertain.Objective  We investigated whether a search for the oncogenes RET/PTC, TRK and BRAFV600E in thyroid aspirates could refine an uncertain diagnosis.Patients and methods  A total of 132 thyroid aspirates, including colloid nodules, inadequate samplings, indeterminate and suspicious for malignancy were analysed by reverse transcription polymerase chain reaction (RT‐PCR) and mutant allele‐specific amplification techniques for the presence of oncogenes.Results  No oncogenes were detected in 48 colloid nodules, 46 inadequate and 19 indeterminate FNABs, then confirmed to be benign at histology. No oncogenes were detected in one follicular thyroid cancer (FTC) with indeterminate cytology. Five out of six papillary thyroid cancers (83%) with FNAB suspicious for malignancy were correctly diagnosed by the presence of oncogenes. Among these, four (67%) contained the BRAF mutation and one (17%) contained RET/PTC‐3. On final analysis, no false‐positive results were reported in 131 samples and five out of seven carcinomas (71%) were correctly diagnosed. The finding of oncogenes in FNAB specimens suspicious for malignancy guided the extent of surgical resection, changing the surgery from diagnostic to therapeutic in five cases.Conclusions  Detection of RET/PTC, TRK and BRAFV600E in FNAB specimens is proposed as a diagnostic adjunctive tool in the evaluation of thyroid nodules with suspicious cytological findings.
Independent association between insulin‐like growth factor‐I and dehydroepiandrosterone sulphate in women in middle adulthood
Authors: Kasayama Soji , Morita Shinya , Otsuki Michio , Asanuma Nobuyuki , Saito Hiroshi , Mukai Mikio , Koga Masafumi 
Published: March 2007

SummaryObjective  The age‐related decrease in circulating dehydroepiandrosterone sulphate (DHEAS) and insulin‐like growth factor (IGF)‐I levels is suggested to be involved in various age‐related changes. As both hormones are regulated differently, by ACTH and GH, respectively, reasons for the almost parallel changes of their circulating levels during ageing remain unknown. The objectives of this study were to verify variables that influence serum IGF‐I as well as DHEAS levels in subjects in middle adulthood.Subjects and methods  We determined serum DHEAS and IGF‐I levels in 362 Japanese subjects aged 30–65 years (225 men and 137 women) undergoing health examinations, who had no hepatic disease, renal disease, malignant disease, diabetes mellitus, or asthma. Variables influencing DHEAS and IGF‐I were analysed.Results  DHEAS as well as IGF‐I levels were higher in men than in women. DHEAS was positively associated with IGF‐I and negatively with age, in both men and women. By multivariate regression analysis, age was negatively associated with DHEAS in both men and women. IGF‐I was found to be independently associated with DHEAS in women. Age was the only negative independent factor for IGF‐I in both men and women, while DHEAS was the only positive independent factor in women.Conclusions  The present study demonstrates that DHEAS and IGF‐I levels are associated with each other, independent of age, in women in middle adulthood.
Taxon‐specific reaction norms to predator cues in a hybridDaphniacomplex
Authors: WOLINSKA JUSTYNA , LÖFFLER ASTRID , SPAAK PIET 
Published: March 2007

Summary1. Previous studies have shown that interspecific hybridisation is common among taxa from theDaphnia galeata/hyalina/cucullataspecies complex. We investigated the influence of predator kairomones on the morphology and life histories of nine clones belonging to three taxa (pureD. galeata, F1hybrids betweenD. galeataandD. hyalina, and backcrossedD. hyalina) of this species complex. Predators exerting positive (fish) and negative (Chaoboruslarvae) size‐selective predation were tested.2. The most responsive traits were size at maturity and size of neonates. Despite large between‐clone variation, discriminant analysis revealed that the three taxa were distinct from each other in key life‐history traits. F1hybrids did not react in an intermediate way compared to the other taxa: the multivariate distances between F1hybrids and either taxon were larger than between pureD. galeataand backcrossedD. hyalina.3. The average plasticity (calculated across all traits) was similar for all three taxa. With regard to the size at maturity and neonate body size, the strength of the response was a function of the intrinsic values of these traits expressed in the control. For example, for size at maturity, smaller individuals showed a significantly stronger reaction toChaoboruskairomones than larger ones.4. Finally, we monitored seasonal changes in body size, egg number and population density of pureD. galeataand F1hybrids in Greifensee (Switzerland). The two taxa experienced similar seasonal changes in body size but, on some sampling dates, they differed in mean egg number. The observed seasonal changes inDaphniabody size were consistent with what would be expected if the predator assemblage shifted from fish toChaoborusover the course of the summer. The fluctuations in the frequencies ofDaphniataxa, however, were not related to seasonal variation inDaphniabody size.5. Experimental data suggest that temporally heterogeneous predation regimes might be an important condition stabilising the co‐occurrence ofDaphniahybrids with parental taxa. Predation regimes, however, cannot solely explain dynamic changes in taxon frequency in Greifensee.
Low frequency of the disease‐associated DRB1*15‐DQB1*06 haplotype may contribute to the low prevalence of multiple sclerosis in Sami
Authors: Harbo H. F. , Utsi E. , Lorentzen Å. R. , Kampman M. T. , Celius E. G. , Myhr K.‐M. , Lie B. A. , Mellgren S. I. , Thorsby E. 
Published: March 2007

AbstractThis study confirms a low frequency of multiple sclerosis (MS) among Sami. Only 12 Sami with a diagnosis of MS were identified in the Norwegian Sami population, which represents a significantly lower prevalence of MS in Sami (30/105) compared with other Norwegians (73–164/105). The clinical characteristics as well as the results of human leukocyte antigen (HLA)‐DRB1 and ‐DQB1 typing of the Sami MS patients are reported, showing that three (27%) of the Sami MS patients carried the MS‐associated HLA‐DRB1*15‐DQB1*06 haplotype. Interestingly, the DRB1*15‐DQB1*06 haplotype had a significantly reduced frequency among Sami controls (0.086) compared with non‐Sami Norwegian controls (0.163) (Pcorrected = 0.015). The low frequency of the disease‐associated DRB1*15‐DQB1*06 haplotype in the Sami population may contribute to the low prevalence of MS in Sami, in addition to other yet unidentified genetic and environmental factors.
Epistatic interaction between FCRL3 and MHC in Spanish patients with IBD
Authors: Martínez A. , Núñez C. , Martín M. C. , Mendoza J. L. , Taxonera C. , Díaz‐Rubio M. , De La Concha E. G. , Urcelay E. 
Published: March 2007

AbstractInflammatory bowel disease (IBD), which comprises ulcerative colitis (UC) and Crohn’s disease (CD), shows a multifactorial origin, with genetic and environmental factors involved. Although the genetic influence is clear for both diseases, the genetics involved is complex and epistatic interactions with other genes probably exist. The Fc receptor‐like 3 gene (FCRL3) maps to the human chromosome 1q21‐22 and certain single nucleotide polymorphisms (SNPs) in its promoter have been associated with some autoimmune diseases. Our aim was to study the role of two promoter SNPs of the FCRL3 gene (−169A>G, rs7528684 and −110C>T, rs11264799) in patients with IBD and their interaction with HLA‐DRB1 and CARD15 in patients with UC and CD, respectively. A case–control study with 311 patients with CD, 324 patients with UC and 497 healthy controls was performed. All the individuals were White Spaniards. No significant associations were found between any FCRL3 SNP and CD or UC, but the stratification in patients with UC by human leukocyte antigen (HLA) showed a significant increase in heterozygosity at the FCRL3 locus, especially −169 AG (AG vs AA+GG, P= 0.0027, odds ratio = 3.6, 95% confidence interval 1.4−2.9), when HLA‐DRB1*0103 carrier patients were compared with HLA‐DRB1*0103 noncarriers. Our data suggest an epistatic interaction between genes in chromosomes 6p21 and 1q21‐22, marked, respectively, by HLA‐DRB1*0103 and FCRL3−169 AG.
Sequence variation within the major histocompatibility complex subregion centromeric of HLA class II in type 1 diabetes
Authors: Van Der Slik A. R. , Van Den Eng I. , Eerligh P. , Doxiadis I. I. N. , Koeleman B. P. C. , Roep B. O. , Giphart M. J. 
Published: March 2007

AbstractThe extended major histocompatibility complex (xMHC) has been studied intensively with regard to type 1 diabetes (T1D) predisposition. So far, little attention has been given to the subregion centromeric of MHC class II. We selected five single nucleotide polymorphisms in genes with potential immune‐related functions in the genomic regions of death‐domain‐associated protein 6 (DAXX, apoptosis associated), TAP‐binding protein (TAPBP, human leukocyte antigen class I loading) and retinoic acid receptor beta (RXRB, vitamin D receptor function) that may bear relevance to the pathogenesis of T1D. A total of 277 unrelated individuals with juvenile‐onset T1D and 286 control subjects were genotyped using sequence‐specific priming–polymerase chain reaction. The genotype and allelic frequencies of the markers tested were not significantly different between patients and control subjects. Subsequent haplotype analysis showed six DAXX‐TAPBP‐RXRB haplotypic configurations. No difference was observed between patients and control cohorts when stratified for T1D high‐risk DQ2‐DR17 and DQ8‐DR4 haplotypes. However, the distribution of these haplotypes affected T1D susceptibility encoded by the intermediate risk haplotypes DQ5‐DR1 and DQ2‐DR7 by increasing and decreasing susceptibility, respectively. We propose that studying genetic variants in the xMHC may be particularly rewarding to define disease pathways in patients displaying intermediate risk DQ‐DR haplotypes.
Polymorphism of the transmembrane region of the MICA gene and human brucellosis†
Authors: Bravo M. J. , Colmenero J. D. , Martín J. , Alonso A. , Caballero A. 
Published: March 2007

AbstractWe investigated the polymorphism of the transmembrane region of the MICA gene (major histocompatibility complex class I chain‐related gene A) in relation to susceptibility to human brucellosis. We typed 114 patients with brucellosis and 121 healthy controls for MICA transmembrane polymorphism with polymerase chain reaction methods combined with fluorescent technology. We found a significant decrease in the frequency of the MICA‐A4 allele in the patients with brucellosis compared with the controls (4.4% vs 10.3%, Pc = 0.03). The frequency of the MICA‐A5 allele was increased in the group of patients with focal complications (15% vs 38%, Pc = 0.004). Our data suggest the MICA‐A4 allele shows a tendency to be protective against infection by Brucella melitensis. Furthermore, the MICA‐A5 allele appears to confer susceptibility to focal forms in patients with brucellosis.
The duplicitous effects of interleukin 4 on tumour immunity: how can the same cytokine improve or impair control of tumour growth?
Authors: Olver S , Apte S , Baz A , Kienzle N 
Published: March 2007

AbstractSuccessful tumour immunity relies on innate and adaptive immune responses, with cytokines like interleukin 4 (IL‐4) known to influence tumour clearance in both positive and negative ways. Here, we summarise some of the murine tumour models used over the past two decades to assess the impact of IL‐4 on tumour immunity, with emphasis on the effects of IL‐4 on the tumour‐induced CD8 T‐cell response. These data are compared with our own recent studies showing that IL‐4 impairs CD8+ T‐cell‐mediated immunity against the mastocytoma cell line P815 expressing the immunogenic HLA‐CW3 gene; moreover, we hypothesise that quantitative and qualitative differences in the HLA‐CW3‐induced CD8+ T‐cell response impair control of tumour growth and aid the development of secondary tumours. We conclude that the duplicitous effects of IL‐4 on tumour immunity depend on the type of effector cell (adaptive/innate) mediating tumour clearance and whether tumour growth depends on stromal infrastructure. Thus, the search for factors that improve or weaken the effectiveness of tumour‐specific T cells has to be continued to improve modern approaches of immunotherapy against cancer.
The ttgGHI solvent efflux pump operon of Pseudomonas putida DOT‐T1E is located on a large self‐transmissible plasmid
Authors: Rodríguez‐Herva José J. , García Vanina , Hurtado Ana , Segura Ana , Ramos Juan L. 
Published: March 2007

Summary Pseudomonas putida DOT‐T1E is a solvent‐tolerant strain able to grow in the presence of > 1% (v/v) toluene in the culture medium. A set of multidrug efflux pumps have been found to play a major role in the tolerance of this bacterium to organic solvents (Rojas et al., J Bacteriol 183: 3967–3973). In the course of studies of the mechanisms underlying solvent tolerance in DOT‐T1E, we isolated a spontaneous solvent‐sensitive mutant derivative which had lost the genes encoding the TtgGHI efflux pump, the most important extrusion element in quantitative terms. Genomic comparisons between the mutant and its parental strain by microarray analysis revealed that in addition to the ttgVW‐ttgGHI gene cluster, another group of genes, highly similar to those found in the Tn4653A and ISPpu12 transposable elements of the TOL plasmid pWW0 from P. putida mt‐2, were also absent from this strain. Further analysis demonstrated that strain DOT‐T1E harboured a large plasmid (named pGRT1) that was lost from the solvent‐sensitive mutant. Mapping analysis revealed that the ttgVW‐ttgGHI genes and the Tn4653A‐like transposon are borne by the pGRT1 plasmid. Plasmid pGRT1 is highly stable and its frequency of loss is below 10−8 per cell per generation under a variety of growth conditions, including nutritional and physical stresses. The pGRT1 plasmid is self‐transmissible, and its acquisition by the toluene‐sensitive P. putida KT2440 and Pseudomonas aeruginosa PAO1 increased the recipient's tolerance to toluene up to levels similar to those exhibited by P. putida DOT‐T1E. We discuss the importance and potential benefits of this plasmid for the development of bacteria with enhanced solvent tolerance, and its potential impact for bioremediation and whole‐cell biotransformations.