bluuebunny/crossref_metadata_2025_split huggingface dataset:
An examination of the behavioral and neuropsychological correlates of three ADHD candidate gene polymorphisms (DRD4 7+, DBH TaqI A2, and DAT1 40 bp VNTR) in hyperactive and normal children followed to adulthood
Authors: Barkley Russell A. , Smith Karen M. , Fischer Mariellen , Navia Bradford 
Published: June 2006

AbstractSeveral candidate gene polymorphisms have been implicated in attention deficit hyperactivity disorder (ADHD), including DAT1 40bp VNTR, DRD4 7+, and DBH TaqI A2 alleles. We used the Milwaukee longitudinal study of hyperactive (n = 122) and normal (n = 67) children to compare participants with and without these respective polymorphisms on ADHD‐related behavioral ratings at childhood, 8 years later in adolescence, and 13+ years later into young adulthood. Neuropsychological tests were given at the adolescent and young adulthood follow‐up. No differences were found between the DRD4‐7+ and 7− repeat polymorphism. The DBH TaqI A2 allele, when homozygous, was associated with being more hyperactive in childhood, having more pervasive behavior problems at adolescence, and earning less money on a card playing task in adulthood. At adolescence, poorer test scores were also found only in the hyperactive group with homozygous for this allele. The DAT1 40bp VNTR heterozygous 9/10 repeat, however, differed from the 10/10 repeat pair in many respects, having greater ADHD and externalizing symptoms at all three follow‐ups, more cross‐situational behavioral problems at both childhood and adolescence, poorer mother‐teen relations at adolescence, and lower class rankings in high school. Participants with the 9/10 pair in the control group also had lower work performance, a lower grade point average in high school, greater teacher rated externalizing symptoms at adolescence, and greater omission errors on a continuous performance test in adulthood. The DAT1 40bp VNTR 9/10 polymorphism pairing appears to be reliably associated with greater symptoms of ADHD and externalizing behavior from childhood to adulthood, and with family, educational, and occupational impairments. We also present a contrary view on the appropriate endophenotypes for use in behavioral genetic research on ADHD. © 2006 Wiley‐Liss, Inc.
BDNF gene variants and brain morphology in schizophrenia
Authors: Agartz Ingrid , Sedvall Göran C. , Terenius Lars , Kulle Bettina , Frigessi Arnoldo , Hall Håkan , Jönsson Erik G. 
Published: June 2006

AbstractThe objective was to investigate putative associations between brain‐derived neurotrophic factor gene (BDNF) polymorphisms and brain morphology in patients with schizophrenia and healthy control subjects. Four BDNF polymorphisms were genotyped and analyzed versus 39 brain volume measures in 96 patients with schizophrenia or schizoaffective disorder and 104 healthy subjects. In all subjects, quantitative data on segmented gray, white, and cerebrospinal fluid (CSF) tissue class volumes of total brain and major cerebral lobes including ventricular CSF were obtained using magnetic resonance imaging (MRI). In a randomly selected subset of this population (n = 101–122), MR volumes from cerebellar tonsil, hemispheres, and vermis subregions, striatal structures, hippocampus, and corpus callosum were also measured. The BDNF 11757 G/C polymorphism was highly significantly associated with frontal gray matter volume variation in patients alone and in patients and control subjects combined. In patients only, the 270 C/T polymorphism was associated with total caudate volume. Significant associations were demonstrated between the BDNF 11757 G/C and Val66Met polymorphisms and a global haplotype estimate of four BDNF polymorphisms and the posterior superior cerebellar vermis volume in the controls as well as in the combined group, but not in the patients. The 11757 G/C polymorphism was associated with cerebellar hemisphere white and gray matter volumes in the combined group. The BDNF −633 T/A polymorphism was associated with gray matter of the putamen in the controls. Trends for associations between several polymorphisms/haplotype estimates and MRI volumes were found. BDNF gene variation may influence brain morphology. The effects may be different in patients with schizophrenia and healthy subjects. © 2006 Wiley‐Liss, Inc.
Methylation of twoHomo sapiens‐specific X‐Y homologous genes in Klinefelter's syndrome (XXY)
Authors: Ross Norman L.J. , Wadekar Rekha , Lopes Alexandra , Dagnall Adam , Close James , DeLisi Lynn E. , Crow Timothy J. 
Published: June 2006

AbstractAn increased incidence of psychiatric and structural brain abnormalities in individuals with Klinefelter syndrome (KS, 47 XXY) could be due to the presence of extra copies of X‐Y homologous genes that escape X inactivation. Of particular interest are the two brain‐expressed genes Protocadherin11XY (PCDH11XY) and the Synaptobrevin‐like gene (SYBL1) which have been duplicated from the X chromosome to the Y chromosome to give X‐Y homologous gene pairs that are specific to modern humans. We examined the DNA of KS individuals reported recently by DeLisi et al.2005and determined the parental origin of the X alleles, the degree of skewed X inactivation and investigated the CpG island methylation status ofPCDH11XYandSYBL1by bisulphite sequencing and quantification of methylated HpaII sites. We used a novel method for quantification of unmethylated CpGs with the restriction enzyme McrBC which cuts methylated but not unmethylated CpGs. The results showed that KS individuals have two methylated and one unmethylatedSYBL1allele whereasPCDH11XYis unmethylated and escapes X inactivation on the extra X chromosome. Overexpression ofPCDH11XYin KS is probable and variable escape from inactivation of thisHomo sapiens‐specific gene could account for some abnormalities in KS. The origin of the parental alleles or their preferential X inactivation was not associated with psychotic symptoms. © 2006 Wiley‐Liss, Inc.
No association between low density lipoprotein receptor genetic variants and Alzheimer's disease risk
Authors: Rodríguez Eloy , Mateo Ignacio , Llorca Javier , Sánchez‐Quintana Coro , Infante Jon , Berciano José , Combarros Onofre 
Published: June 2006

AbstractA number of studies suggest that brain cholesterol metabolism may play a role in Alzheimer's disease (AD) development, probably through modulation of amyloid beta production. The discovery that apolipoprotein E (APOE) ε4 allele is a risk factor for sporadic AD raises the possibility that the receptors to which APOE binds on the surface of neurons are also involved in the neurodegenerative process. To evaluate the relationship between low density lipoprotein receptor (LDLR) genetic variant and AD, independently or in concert with the APOE ε4 allele, we examined three LDLR polymorphisms located in exons 8 (rs 11669576), 10 (rs 5930), and 13 (rs 5925), in a large group of 322 Spanish AD patients and 314 controls. The current study does not demonstrate an association between LDLR genotypes or haplotypes and AD, neither in the total sample nor when the populations were stratified for the presence or absence of the APOE ε4 allele. © 2006 Wiley‐Liss, Inc.
Transmission distortion of BDNF variants to bipolar disorder type I patients from a south american population isolate,
Authors: Kremeyer Barbara , Herzberg Ibi , Garcia Jenny , Kerr Emily , Duque Constanza , Parra Vicky , Vega Jorge , Lopez Carlos , Palacio Carlos , Bedoya Gabriel , Ospina Jorge , Ruiz‐Linares Andres 
Published: June 2006

AbstractRecent reports have implicated polymorphisms in the brain derived neurotrophic factor (BDNF) gene region in the etiology of several psychiatric phenotypes, including bipolar disorder. Significant disease association has been reported for the G allele at SNP rs6265, which encodes for Valine at position 66 of BDNF (Val66Met), an apparently functional variant of this key BDNF. Here we examined a sample of 224 bipolar type I patients and available parents (comprising a total of 212 nuclear families) ascertained in a South American population isolate (Antioquia, Colombia). We tested for transmission distortion to bipolar patients of alleles at the rs6265 polymorphism and at a microsatellite marker 1.3 kb away from this SNP. Significant excess transmission of the rs6265 G allele to cases was observed (χ2 = 10.77, d.f. = 1, P = 0.001). Two‐locus haplotype analysis showed a significant global transmission distortion (χ2 = 16.059, d.f. = 7, P = 0.025) with an excess transmission of a haplotype comprising the rs6265 G allele and microsatellite allele 227. These results are consistent with previous studies pointing to a role for BDNF in susceptibility to mood disorders. © 2006 Wiley‐Liss, Inc.
Mandating coverage of biologic therapies for rheumatic disease: Where Evidence and Politics meet
Authors: Bair Yali A. , White Richard H. , Kravitz Richard L. 
Published: June 2006

AbstractIn this issue of Arthritis Care & Research, we inaugurate an occasional series of commentaries entitled Policy Matters. In all of clinical research, our goal is to improve patient outcomes. Usually, that means focusing on the medical, demographic, and socioeconomic factors at the level of individuals with rheumatic diseases; sometimes, our scope of inquiry expands to encompass the impact of the communities in which they live. However, increasingly, the welfare of persons with rheumatic conditions is also affected by health policies through such diverse mechanisms as reimbursement decisions for specific treatments, insurance coverage, manpower, and NIH budgets (the foregoing list is hardly exhaustive).Recently, a piece of legislation was introduced in California (SB913) that has the potential to alter the availability of biologic response modifying agents (BRMs) by mandating that health plans that provide coverage for one such agent include all on their formularies (a revised version would preclude a trial of another disease‐modifying antirheumatic drug before use of a BRM). In this state, the California Health Benefits Review Program (CHBRP) provides evidence reviews of the medical effectiveness, cost, and public health impact of proposed health insurance mandates for the legislature. The analysts from the University of California who conducted the medical effectiveness review of SB913 for CHBRP provide a legislative history of the proposed law in this article. We hope that the readership of Arthritis Care & Research find this article informative as an exemplar of the policies that could dramatically alter the welfare of our patients.
Changing spectrum of the diffuse infiltrative lymphocytosis syndrome
Authors: Basu Dhiman , Williams Francis M. , Ahn Chul W. , Reveille John D. 
Published: June 2006

AbstractObjectiveTo describe the changing clinical spectrum of patients with diffuse infiltrative lymphocytosis syndrome (DILS) after the introduction of highly active antiretroviral treatment (HAART), and to carry out HLA class II oligotyping in these patients.MethodsA retrospective chart review of patients with DILS who were referred to an outpatient facility for human immunodeficiency virus (HIV)–positive individuals between 1994 and 2003 was performed. DILS was diagnosed as suggested by previous criteria. Demographic features and relevant clinical, laboratory, and radiologic data were recorded and results analyzed.ResultsA total of 129 patients with DILS were identified. Of them, 56 (43%) were African American, 41 (32%) were white, and 32 (25%) were Hispanic. Parotid gland swelling appeared to be the sine qua non of DILS. Twenty‐seven percent of patients had opportunistic infections. The status of 103 patients was available as of December 2003: 26 (25%) had died, of which only 6 (6%) succumbed to opportunistic infections. The prevalence of DILS had significantly decreased in the post‐HAART era (1998 onwards) compared with that of the pre‐HAART period (P < 0.000001). The prevalence of lymphocytic interstitial pneumonitis had also dropped significantly following introduction of HAART therapy (P = 0.015). A higher frequency of certain HLA class II alleles (DRB1) was found in African Americans with DILS compared with those with HIV without DILS (P = 0.006).ConclusionThe epidemiology, clinical presentation, and certain extraglandular manifestations of DILS have changed, concomitant with the introduction of HAART, further suggesting that DILS is an antigen (viral)‐driven response and the primary treatment for it is anti‐HIV therapy.
Development of a tool for early referral of children and adolescents with signs and symptoms suggestive of chronic arthropathy to pediatric rheumatology centers
Authors: Len Claudio Arnaldo , Terreri Maria Teresa , Puccini Rosana F. , Wechsler Rudolf , Silva Edina Koga , Oliveira Leda M. , Barbosa Cássia M. Passarelli , Pedroso Glaura César , Hilário Maria Odete E. 
Published: June 2006

AbstractObjectiveTo develop an easy, time‐efficient tool to identify children and adolescents with signs and symptoms suggestive of chronic arthropathies, and to evaluate its interobserver reproducibility and reliability.MethodsThe instrument used standardized techniques as required for the development of health‐related instruments, targeting parents of apparently healthy children and adolescents ages 1–16 years. A multidisciplinary team was involved in the design of the instrument.ResultsEach health professional generated 10–15 questions addressing musculoskeletal complaints that they considered to be the most relevant. A total of 60 questions were listed. During the reduction step, each health professional scored questions from 1 to 4 according to the question's relevance. The tool comprised 12 questions and was administered to the parents of 3 groups: patients with juvenile idiopathic arthritis (JIA; n = 48), children with diffuse musculoskeletal pain (n = 39), and a healthy control group (n = 42). The JIA group achieved the highest scores, followed by the diffuse musculoskeletal pain group and the control group. Nine (18.7%) of 48 patients with JIA and 2 (5.1%) of 39 children with musculoskeletal pain had a score of 5. The interobserver reproducibility was confirmed. All 12 questions were included in the final version of the instrument. We determined that children and adolescents with a score ≥5 should be referred for a rheumatologic evaluation (cluster analysis and logistic regression).ConclusionOur questionnaire seems to be a useful tool for the early detection of musculoskeletal problems in children that may need a referral for a rheumatologic evaluation.
Influence of clinical features on the health status of patients with limited cutaneous systemic sclerosis
Authors: Gliddon Angela E. , Doré Caroline J. , Maddison Peter J. ,   QUINS TRIAL STUDY GROUP
Published: June 2006

AbstractObjectiveTo determine the effect of limited cutaneous systemic sclerosis (lcSSc) on patients' health status, and to identify the contributions to health status of different manifestations of lcSSc.MethodsThe Short Form 36 questionnaire was completed by 213 patients with lcSSc or Raynaud's syndrome and an antinuclear antibody typical of lcSSc as part of the baseline visit of the Quinapril in Scleroderma trial. Results were analyzed after correcting for age and sex using the Welsh Health Survey. Patients' results were related to their clinical characteristics.ResultsThe mean physical component score (PCS) was 44.0 (95% confidence interval [95% CI] 42.5, 45.5), which was lower than the population norm of 50, and the median mental component score (MCS) was 52.2 (95% CI 48.5, 54.3). Raynaud's disease visual analog scale (VAS) scores, lung function, the number of organ systems affected, and skin score were significantly correlated with PCS. The total score (TDS) of an SSc severity scale showed the highest correlation. The effect of lcSSc on PCS was worse in younger patients. Multiple regression including age demonstrated that Raynaud's disease severity could predict a reduction in PCS beyond that predicted by TDS. Raynaud's disease severity and duration of lcSSc were linked to low MCS. Arthritis reduced PCS and esophageal involvement reduced PCS and MCS.ConclusionPhysical health status of patients with lcSSc was reduced, with 30% of the variation predicted by TDS, age, and severity of Raynaud's disease VAS. Mental health status was not reduced in this population.
Selective labeling of a membrane peptide with 15N‐amino acids using cells grown in rich medium
Authors: Englander Jacqueline , Cohen Leah , Arshava Boris , Estephan Racha , Becker Jeffrey M. , Naider Fred 
Published: June 2006

AbstractNuclear magnetic resonance spectra of membrane proteins containing multiple transmembrane helices have proven difficult to resolve due to the redundancy of aliphatic and Ser/Thr residues in transmembrane domains and the low chemical shift dispersity exhibited by residues in α‐helical structures. Although 13C‐ and 15N‐labeling are useful tools in the biophysical analysis of proteins, selective labeling of individual amino acids has been used to help elucidate more complete structures and to probe ligand–protein interactions. In general, selective labeling has been performed in Escherichia coli expression systems using minimal media supplemented with a single labeled amino acid and nineteen other unlabeled amino acids and/or by using auxotrophs for specific amino acids. Growth in minimal media often results in low yields of cells or expression products. We demonstrate a method in which one labeled amino acid is added to a rich medium. These conditions resulted in high expression (≥100 mg/L) of a test fusion protein and milligram quantities of the selectively labeled membrane peptide after cyanogen bromide cleavage to release the peptide from the fusion protein. High levels of 15N incorporation and acceptable levels of cross‐labeling into other amino acid residues of the peptide were achieved. Growth in rich media is a simple and convenient alternative to growth in supplemented minimal media and is readily applicable to the expression of proteins selectively labeled with specific amino acids. © 2006 Wiley Periodicals, Inc. Biopolymers (Pept Sci) 84: 508–518, 2006This article was originally published online as an accepted preprint. The “Published Online” date corresponds to the preprint version. You can request a copy of the preprint by emailing the Biopolymers editorial office at biopolymers@wiley.com
Elucidating the binding thermodynamics of 8‐anilino‐1‐naphthalene sulfonic acid with the A‐state of α‐lactalbumin: An isothermal titration calorimetric investigation
Authors: Singh Sreelekha K. , Kishore Nand 
Published: June 2006

AbstractIsothermal titration calorimetry has been used to demonstrate that the heat profile associated with the binding of 8‐anilino‐1‐naphthalene sulfonic acid (ANS) with the acid induced molten globule state (A‐state) of α‐lactalbumin (α‐LA) is different from that with the native and denatured states of the protein. The results corroborate the spectroscopic observations that ANS binds more strongly to the partially folded states of the protein compared to that with the native and denatured states. ANS binds to the A‐state of α‐LA at two independent binding sites that remain nearly the same in the temperature range of 10–35°C. The number of moles of ANS binding at site 1 at 10°C is 14.0 ± 0.2 and remains nearly the same with rise in temperature. However, the number of moles of ANS molecules binding at site 2 show an increase from 1.6 ± 0.2 at 10°C to 4.1 ± 0.1 at 35°C. The deviation of the slope of enthalpy–entropy compensation plot from unity and nonadherence to van't Hoff dictates implies that the binding sites on the A‐state of α‐LA for ANS are not well defined and specific; rather, these binding sites are formed due to greater exposure of hydrophobic clusters in the A‐state of the protein. The results for the first time demonstrate the use of isothermal titration calorimetry in characterizing the A‐state of α‐LA both qualitatively and quantitatively. © 2006 Wiley Periodicals, Inc. Biopolymers 83:205–212, 2006This article was originally published online as an accepted preprint. The “Published Online” date corresponds to the preprint version. You can request a copy of the preprint by emailing the Biopolymers editorial office at biopolymers@wiley.com
Multinuclear magnetic resonance, electrospray ionization–mass spectroscopy, and parametric method 5 studies of a new derivative of gossypol with 2‐thiophenecarbohydrazide as well as its complexes with LI+, Na+, K+, RB+, and Cs+ cations
Authors: Przybylski Piotr , Schilf Wojciech , Lewandowska Weronika , Brzezinski Bogumil 
Published: June 2006

AbstractA new derivative of racemic gossypol with 2‐thiophenecarbohydrazide (GHHT) and its complexes with monovalent cations have been synthesized and studied by electrospray ionization–mass spectroscopy (ESI‐MS), multinuclear nuclear magnetic resonance (NMR), as well as by the Parametric Method 5 (PM5) methods. It is demonstrated that GHHT forms stable complexes of 1:1 stoichiometry with monovalent metal cations. The structures of the complexes are stabilized by three types of intramolecular hydrogen bonds. The spectroscopic methods have provided clear evidence that GHHT and its complexes exist in the DMSO‐d6 solution in the N‐imine–N‐imine tautomeric forms. The structures of the GHHT and its complexes with Li+, Na+, K+, Rb+, and Cs+ cations are visualized and discussed in detail. © 2006 Wiley Periodicals, Inc. Biopolymers 83: 213–225, 2006This article was originally published online as an accepted preprint. The “Published Online” date corresponds to the preprint version. You can request a copy of the preprint by emailing the Biopolymers editorial office at biopolymers@wiley.com
SMIXTURE: strategy for mixture model clustering of multivariate images
Authors: Tran Thanh N. , Wehrens Ron , Buydens Lutgarde M. C. 
Published: June 2006

AbstractSMIXTURE, a novel strategy for mixture model clustering of multivariate images, has been developed. Most other clustering approaches require good guesses of the number of components (clusters) and the initial statistical parameters. In our approach, the initial parameters are determined by agglomerative clustering on homogenous regions, identified by region growing segmentation. SMIXTURE can be used in both a normal situation of mixture modeling, where the density of a cluster is modeled by a single normal distribution; and in a more complex situation, where the density of a single cluster is a mixture of several normal sub‐clusters. The method has proven to be very robust to noise/outliers, overlapping clusters, is reasonably fast and is suitable for moderate to large images. Copyright © 2006 John Wiley & Sons, Ltd.
Aluminium(III) Trifluoromethanesulfonate as an Efficient Catalyst for the Intramolecular Hydroalkoxylation of Unactivated Olefins: Experimental and Theoretical Approaches
Authors: Coulombel Lydie , Rajzmann Michel , Pons Jean‐Marc , Olivero Sandra , Duñach Elisabet 
Published: June 2006

AbstractThe Al(OTf)3‐catalyzed cycloisomerization of unactivated unsaturated alcohols was studied from experimental and theoretical points of view. A series of cyclic ethers was obtained in excellent yields and regioselectivities. This catalyst system provides one of the most straightforward routes to cyclic ethers with Markovnikov‐type regioselectivity under mild conditions. Theoretical and NMR studies were carried out in order to better determine the mechanism of this reaction. The NMR studies were in agreement with preferential complexation of Al(OTf)3 to the oxygen atom of the unsaturated alcohol, but did not exclude complexation to the double bond of the alcohol. Theoretical calculations indicated strong acidification of the hydroxyl proton when Al(OTf)3 was complexed to the alcohol oxygen atom. A plausible catalytic cycle for the Al(OTf)3‐catalyzed intramolecular hydroalkoxylation of unactivated olefins is proposed.