bluuebunny/crossref_metadata_2025_split huggingface dataset:
A genomic approach to scoliosis pathogenesis
Authors: Blank R D , Raggio C L , Giampietro P F , Camacho N P 
Published: November 2006

Genetic predisposition contributes to scoliosis in humans. Two syndromes of primary scoliosis occur — congenital scoliosis, which presents at birth, often associated with other abnormalities, and idiopathic scoliosis which becomes apparent between infancy and adolescence. Little is known regarding the genetic transmission of scoliosis risk. Data gleaned from mouse mutations provide a valuable supplement to human family studies. More than 50 mouse mutations include scoliosis, kyphosis, or tail kinks as a phenotype; the locations of the human homologues for 28 of these can be predicted on the basis of synteny conservation. Some mouse mutations are either more penetrant or more fully expressed in one sex. The mouse data provide a basis both for optimism and for caution in understanding human scoliosis. Mouse models provide insight into mechanisms underlying spinal curvature and help direct searches for genes important in human disease. Four types of defects account for most mouse scoliosis: defects of cell–cell communication, intracellular signal transduction, matrix protein synthesis, and matrix protein metabolism. Mouse data suggest that at least two types of heterogeneity complicate genetic analysis: locus heterogeneity, in which lesions of distinct genes lead to a similar phenotype, and allelic heterogeneity, in which the phenotypes arising from alleles of a single gene differ. By focusing initial studies on multiplex families with apparent simple Mendelian inheritance the effect of heterogeneity is minimized.
A Preliminary Investigation of ADHD Symptoms in Persons With Celiac Disease
Authors: Niederhofer Helmut , Pittschieler Klaus 
Published: November 2006

Objective: Several studies report a possible association of celiac disease (CD) with psychiatric and psychological disturbances, such as ADHD. Method: The authors assess 132 participants from 3 to 57 years of age ( M = 19.3 years) affected by CD for the possibility of an associated ADHD-like symptomatology, using the Conner Scale Hypescheme, a behavioral scale similar to the Conners Rating Scales, before their gluten-free diet was started and 6 months later. Results: The overall score improves significantly as well as most of the ADHD-like symptomatology specific features (Bonferroni-corrected, paired-sample t tests). Conclusion: The data indicate that ADHD-like symptomatology is markedly overrepresented among untreated CD patients and that a gluten-free diet may improve symptoms significantly within a short period of time. The results of this study also suggest that CD should be included in the list of diseases associated with ADHD-like symptomatology.
Progressive immunoglobulin gene mutations in chronic lymphocytic leukemia: evidence for antigen-driven intraclonal diversification
Authors: Volkheimer Alicia D. , Weinberg J. Brice , Beasley Bethany E. , Whitesides John F. , Gockerman Jon P. , Moore Joseph O. , Kelsoe Garnett , Goodman Barbara K. , Levesque Marc C. 
Published: November 2006

AbstractSomatic mutations of immunoglobulin genes characterize mature memory B cells, and intraclonal B-cell diversification is typically associated with expansion of B-cell clones with greater affinity for antigen (antigen drive). Evidence for a role of antigen in progression of intraclonal chronic lymphocytic leukemia (CLL) cell diversification in patients with mutated immunoglobulin genes has not been previously presented. We performed a single-cell analysis of immunoglobulin heavy and light chains in 6 patients with somatically mutated CLL-cell immunoglobulin genes and identified 2 patients with multiple related (oligoclonal) subgroups of CLL cells. We constructed genealogic trees of these oligoclonal CLL-cell subgroups and assessed the effects of immunoglobulin somatic mutations on the ratios of replacement and silent amino acid changes in the framework and antigen-binding regions (CDRs) of the immunoglobulin heavy and light chains from each oligoclonal CLL-cell population. In one subject, the amino acid changes were consistent with an antigen-driven progression of clonally related CLL-cell populations. In the other subject, intraclonal diversification was associated with immunoglobulin amino acid changes that would have likely lessened antigen affinity. Taken together, these studies support the hypothesis that in some CLL cases intraclonal diversification is dependent on antigen interactions with immunoglobulin receptors.
Human plasma fibrinogen is synthesized in the liver
Authors: Tennent Glenys A. , Brennan Stephen O. , Stangou Arie J. , O'Grady John , Hawkins Philip N. , Pepys Mark B. 
Published: November 2006

AbstractHereditary systemic amyloidosis caused by fibrinogen Aα-chain gene mutations is an autosomal dominant condition with variable penetrance, usually of late onset, and typically presents with nephropathy leading to renal failure. Amyloid deposits often develop rapidly in transplanted kidneys, and concomitant orthotopic liver transplantation has lately been performed in several patients with the hope of halting amyloid deposition. Fibrinogen is produced in vitro by hepatocytes but also by other human cell types, and although the liver is the source of plasma fibrinogen in vivo in rats, this is not known in humans. Transplantation of livers expressing wild-type fibrinogen into patients with variant fibrinogen amyloidosis provides a unique opportunity to establish the source of human plasma fibrinogen. We therefore characterized plasma fibrinogen Aα-chain allotypes by electrospray ionization mass spectrometry mapping of tryptic digests before and after liver transplantation. Before liver transplantation, fibrinogen amyloidosis patients with the Glu526Val Aα-chain variant had approximately equal proportions of peptide with the wild-type sequence TFPGFFSPMLGEFVSETESR, and with the amyloidogenic variant sequence TFPGFFSPMLGEFVSVTESR, as expected for individuals heterozygous for the mutation. After transplantation, only the wild-type sequence was detected, and the liver is thus the source of at least 98% of the circulation fibrinogen.
Application of Petri net based analysis techniques to signal transduction pathways
Authors: Sackmann Andrea , Heiner Monika , Koch Ina 
Published: November 2006

Abstract

Background
Signal transduction pathways are usually modelled using classical quantitative methods, which are based on ordinary differential equations (ODEs). However, some difficulties are inherent in this approach. On the one hand, the kinetic parameters involved are often unknown and have to be estimated. With increasing size and complexity of signal transduction pathways, the estimation of missing kinetic data is not possible. On the other hand, ODEs based models do not support any explicit insights into possible (signal-) flows within the network. Moreover, a huge amount of qualitative data is available due to high-throughput techniques. In order to get information on the systems behaviour, qualitative analysis techniques have been developed. Applications of the known qualitative analysis methods concern mainly metabolic networks. Petri net theory provides a variety of established analysis techniques, which are also applicable to signal transduction models. In this context special properties have to be considered and new dedicated techniques have to be designed.

Methods
We apply Petri net theory to model and analyse signal transduction pathways first qualitatively before continuing with quantitative analyses. This paper demonstrates how to build systematically a discrete model, which reflects provably the qualitative biological behaviour without any knowledge of kinetic parameters. The mating pheromone response pathway in Saccharomyces cerevisiae serves as case study.

Results
We propose an approach for model validation of signal transduction pathways based on the network structure only. For this purpose, we introduce the new notion of feasible t-invariants, which represent minimal self-contained subnets being active under a given input situation. Each of these subnets stands for a signal flow in the system. We define maximal common transition sets (MCT-sets), which can be used for t-invariant examination and net decomposition into smallest biologically meaningful functional units.

Conclusion
The paper demonstrates how Petri net analysis techniques can promote a deeper understanding of signal transduction pathways. The new concepts of feasible t-invariants and MCT-sets have been proven to be useful for model validation and the interpretation of the biological system behaviour. Whereas MCT-sets provide a decomposition of the net into disjunctive subnets, feasible t-invariants describe subnets, which generally overlap. This work contributes to qualitative modelling and to the analysis of large biological networks by their fully automatic decomposition into biologically meaningful modules.
Predictors of betel quid chewing behavior and cessation patterns in Taiwan aborigines
Authors: Lin Chin-Feng , Wang Jung-Der , Chen Ping-Ho , Chang Shun-Jen , Yang Yi-Hsin , Ko Ying-Chin 
Published: November 2006

Abstract

Background
Betel quid, chewed by about 600 million people worldwide, is one of the most widely used addictive substances. Cessation factors in betel quid chewers are unknown. The present study explores prevalence and the quit rate of betel quid chewing in Taiwan aborigines. Our goal was to delineate potential predictors of chewing cessation.

Methods
A stratified random community-based survey was designed for the entire aborigines communities in Taiwan. A total of 7144 participants were included between June 2003 and May 2004 in this study. Information on sociodemographic characteristics, such as gender, age, obesity, education years, marital status, ethnicity, and habits of betel quid chewing, smoking and drinking was collected by trained interviewers.

Results
The prevalence of betel quid chewers was 46.1%. Betel quid chewing was closely associated with obesity (OR = 1.61; 95% CI: 1.40–1.85). Betel quid chewers were most likely to use alcohol and cigarettes together. Quit rate of betel quid chewers was 7.6%. Betel quid chewers who did not drink alcohol were more likely to quit (OR = 1.89; 95% CI: 1.43–2.50). Alcohol use is a significant factor related to cessation of betel quid chewing, but smoking is not.

Conclusion
Taiwan aborigines have a high prevalence of betel quid chewers and a low quit rate. Alcohol use is strongly association with betel quid chewing. Efforts to reduce habitual alcohol consumption might be of benefit in cessation of betel quid chewing.
Does a joint development and dissemination of multidisciplinary guidelines improve prescribing behaviour: a pre/post study with concurrent control group and a randomised trial
Authors: Martens Jody D , Winkens Ron AG , van der Weijden Trudy , de Bruyn Daisy , Severens Johan L 
Published: November 2006

Abstract

Background
It is difficult to keep control over prescribing behaviour in general practices. The purpose of this study was to assess the effects of a dissemination strategy of multidisciplinary guidelines on the volume of drug prescribing.

Methods
The study included two designs, a quasi-experimental pre/post study with concurrent control group and a random sample of GPs within the intervention group. The intervention area with 53 GPs was compared with a control group of 54 randomly selected GPs in the south and centre of the Netherlands. Additionally, a randomisation was executed in the intervention group to create two arms with 27 GPs who were more intensively involved in the development of the guideline and 26 GPs in the control group.
A multidisciplinary committee developed prescription guidelines. Subsequently these guidelines were disseminated to all GPs in the intervention region. Additional effects were studied in the subgroup trial in which GPs were invited to be more intensively involved in the guideline development procedure. The guidelines contained 14 recommendations on antibiotics, asthma/COPD drugs and cholesterol drugs
The main outcome measures were prescription data of a three-year period (one year before and 2 years after guideline dissemination) and proportion of change according to recommendations.

Results
Significant short-term improvements were seen for one recommendation: mupirocin. Long-term changes were found for cholesterol drug prescriptions. No additional changes were seen for the randomised controlled study in the subgroup. GPs did not take up the invitation for involvement.

Conclusion
Disseminating multidisciplinary guidelines that were developed within a region, has no clear effect on prescribing behaviour even though GPs and specialists were involved more intensively in their development. Apparently, more effort is needed to bring about change.
Tandem Mass Spectrometry for the Direct Assay of Enzymes in Dried Blood Spots: Application to Newborn Screening for Mucopolysaccharidosis II (Hunter Disease)
Authors: Wang Ding , Wood Tim , Sadilek Martin , Scott C Ronald , Turecek Frantisek , Gelb Michael H 
Published: November 2006

Abstract
Background: A treatment for mucopolysaccharidosis II (Hunter syndrome) has recently become available. Therefore, we developed a high-throughput assay method appropriate for newborn screening for the relevant enzyme, iduronate 2-sulfatase.
Methods: We synthesized a new iduronate 2-sulfatase substrate that can be used to assay the enzyme by use of tandem mass spectrometry together with an internal standard. The assay uses a dried blood spot on a newborn screening card as the enzyme source.
Results: When the assay was tested on dried blood spots, the iduronate 2-sulfatase activity measured for 13 patients with Hunter syndrome was well below the interval found for 57 randomly chosen newborns. The assay was more sensitive than previously reported iduronate 2-sulfatase assays.
Conclusions: This newly developed tandem mass spectrometry assay has the potential to be adopted for newborn screening of Hunter syndrome. This method also has the potential to be carried out in multiplex fashion to assay several different enzymes relevant to lysosomal storage diseases that are assayed in a single infusion into the mass spectrometer.
N-Ethylmaleimide-sensitive factor: a redox sensor in exocytosis
Authors: Lowenstein Charles J. , Tsuda Hiromasa 
Published: November 2006

AbstractVascular injury triggers endothelial exocytosis of granules, releasing pro-inflammatory and pro-thrombotic mediators into the blood. Nitric oxide (NO) and reactive oxygen species (ROS) limit vascular inflammation and thrombosis by inhibiting endothelial exocytosis. NO decreases exocytosis by regulating the activity of theN-ethylmaleimide-sensitive factor (NSF), a central component of the exocytic machinery. NO nitrosylates specific cysteine residues of NSF, thereby inhibiting NSF disassembly of the soluble NSF attachment protein receptor (SNARE). NO also modulates exocytosis of other cells; for example, NO regulates platelet activation by inhibiting α-granule secretion from platelets. Other radicals besides NO can regulate exocytosis as well. For example, H2O2inhibits exocytosis by oxidizing NSF. Using site-directed mutagenesis, we have defined the critical cysteine residues of NSF, and found that one particular cysteine residue, C264, renders NSF sensitive to oxidative stress. Since radicals such as NO and H2O2inhibit NSF and decrease exocytosis, NSF may act as a redox sensor, modulating exocytosis in response to changes in oxidative stress.
Crystal structures of the new isotypic compounds Rb4(M2+)(Fe3+)8[SeO3]14[SeO2(OH)]2 · 2 H2O (M = Mg, Cu) with a short review on iron(III) selenites
Authors: Giester Gerald , Wildner Manfred 
Published: November 2006

Single crystals of the new compounds Rb4(M2+)(Fe3+)8[SeO3]14[SeO2(OH)]2 · 2 H2O (M = Mg, Cu) have been synthesized in Teflon-lined steel vessels at 495 K. Their structures were determined from X-ray single crystal diffraction data and found to be isotypic: space group P-1, Z = 1, a = 7.716(2)/7.726(2), b = 10.325(3)/10.327(3), c = 15.764(4)/15.724(4) Å, α = 77.57(1)/77.87(1), β = 89.23(1)/89.47(1), γ = 86.09(1)/86.57(1)°, V = 1223.6(6)/1224.3(6) Å3, R1 = 0.028/0.037 for the Mg/Cu compound, respectively.
The structure type is characterized by a complex polyhedral framework: the [(Fe3+)O6] octahedra are linked via all corners with typical pyramidal [SeO3]2– groups — with exception of a H2O molecule which is a ligand of one of the Fe atoms. The [(M2+)O6] polyhedron shares two corners and two edges with selenite pyramids. Further sharing corners with [FeO6] octahedra, centrosymmetric units of the type [MFe4Se4O28] may be emphasized. Voids within the framework are occupied by Rb+ cations and by the lone-pair electrons of the Se4+ cations. Three different hydrogen bonds with O···O distances in the range 2.69–2.85 Å occur.
At present 28 selenites of ferric iron are known, most of them synthesized at low-hydrothermal conditions. Commonly, framework structures are formed with ferric iron in octahedral coordination. Further building units are trigonal pyramidal [SeO3]2– and [SeO2(OH)]– groups or [Se2O5]2– dimer anions, featuring a large variety of structure arrangements. Iron(III) selenites are classified based on the presence of extra cations, on the respective anionic groups and by the type of interpolyhedral linkage. In the literature, few isotypic selenites (with Fe3+ substituted by another trivalent cation) have been reported yet.
Among 51 [FeOn] polyhedra studied all but one show ferric iron (Fe3+) in sixfold coordination with mean Fe—O bond lengths for 41 pure [FeO6] octahedra ranging from 1.989 to 2.044 Å with an overall mean value of 2.013(11) Å. Remarkably, only 14% of all [FeO6] poly hedra are centrosymmetric.
In the oxoanions investigated (61 [SeO3]2–, 9 [SeO2(OH)]– and 6 [Se2O5]2– groups) tetravalent selenium typically forms a flattened trigonal pyramid with O—Se—O bond angles of about 100° and Se—O bond lengths of 1.70 Å, completed by the lone-pair electrons E at the selenium cation to a formal [ESeO3]2–
ψ
1 tetrahedron. In hydrogenselenites and diselenites elongated Se—O distances occur for the protonated and the bridging oxygen atoms, respectively. With some rare exceptions all selenium atoms have the site symmetry 1.
Chronic total occlusion angioplasty through supplying collaterals
Authors: Kumar Sridhar Sampath , Kaplan Barry 
Published: November 2006

AbstractChronic total occlusions are typically difficult to recannalize especially when adverse angiographic morphologies are identified. We describe a case of chronic total occlusion crossing retrograde through the supplying collaterals followed by successful angioplasty and stenting. © 2006 Wiley‐Liss, Inc.
A new understanding of chronic total occlusion from a novel PCI technique that involves a retrograde approach to the right coronary artery via a septal branch and passing of the guidewire to a guiding catheter on the other side of the lesion
Authors: Ozawa Noriyuki 
Published: November 2006

AbstractPercutaneous coronary intervention (PCI) for chronic total occlusion (CTO) by the antegrade approach is sometimes difficult, especially in the right coronary artery (RCA). We performed successful PCls following a retrograde approach via a septal branch in 2 patients with CTO in RCA. The method involves leading the retrograde guidewire outside the body through an opposite guiding catheter after the wire crosses the target lesion. A balloon or stent could then be delivered retrogradely or antegradely. Even a soft retrograde wire always crosses the lesion through the true lumen, as confirmed by IVUS. Selecting a suitable collateral, a straighter rather than a larger one, is crucial. Our results do not support the current concept regarding CTOs. Probably, the distal fibrous cap is soft and the proximal one has a thin point that soft wires, even blunt ones, can penetrate easily. The distal penetration point appears to connect to the proximal uncalcified thin point. Many channels seem to spread out from the proximal side, tree‐like, within the lesion. In the retrograde approach, the wire is unlikely to enter these branch channels. The results suggest that PCI by the retrograde approach may be effective for treating CTOs of RCA. © 2006 Wiley‐Liss, Inc.
Mastering the antegrade femoral artery access in patients with symptomatic lower limb ischemia: Learning curve, complications, and technical tips and tricks
Authors: Biondi‐Zoccai Giuseppe G. L. , Agostoni Pierfrancesco , Sangiorgi Giuseppe , Paola Luca Dalla , Armano Fabio , Nicolini Simone , Alek Josef , Fusaro Massimiliano 
Published: November 2006

AbstractBackground: Antegrade femoral access is fraught by technical challenges and steeper learning curve, in comparison with retrograde contralateral femoral access. We appraised learning curve, complications, and technical aspects inherent in the adoption of antegrade approach. Methods: Consecutive cases in which antegrade access was attempted by a cardiologist experienced in retrograde access, but inexperienced in antegrade, under supervision of an operator with anterograde expertise, were collected. The primary end‐point was the occurrence of antegrade access failure or local complications. Major complications were defined as those life‐threatening, requiring transfusion, percutaneous, or surgical repair. Results: Anterograde access was attempted in 120 patients. The primary end‐point occurred in 14 (11.6%) cases, but according to the learning curve, in 12 (20%) for first 60 cases vs 2 (3.3%) for the last 60 cases (P = 0.008). Access failure in the hands of the in‐training operator was similarly found in all cases but one during the first 60 cases. No major complications occurred, while minor complications were found in 9 (7.5%) patients, again with all but two of them occurring in the first 60 cases. These included peri‐adventitial extravasation in 8 patients (6.7%), and perforation of a small branch in one (0.8%); all these complications were conservatively and successfully managed. Obesity was the only significant predictor of access failure/complication (P = 0.004). Conclusions: This work, the first to report on the learning curve of the antegrade approach, supports the feasibility and safety of this access site even for an in‐training operator, if supervised. A minimum caseload of 60 procedures is likely needed to master this technique. © 2006 Wiley‐Liss, Inc.
QSAR Studies on a Series of 7,8‐Dialkyl‐1,3‐diaminopyrrolo‐[3,2‐f]quinazolines with Anticancer Activity
Authors: Chen Jin‐Can , Qian Li , Shen Yong , Chen Lan‐Mei , Zheng Kang‐Cheng 
Published: November 2006

AbstractThe quantitative structure‐activity relationship (QSAR) studies on a series of 7,8‐dialkyl‐1,3‐diaminopyrrolo‐[3,2‐f]quinazolines, dihydrofolate reductase (DHFR) inhibitors as potential anticancer agents, have been carried out by using the density functional theory (DFT) method, molecular mechanics method (MM+) and statistical method. Some QSAR models based on their lipophilic and steric parameters were built up via a stepwise regression analysis. It is very interesting to find that the established optimal QSAR equation involves only two descriptors: lipophilicity indexes Clog P and Clog P2. However, such descriptors can quite well describe a significant statistic quality and have a remarkable predictive activity according to the square of adjusted correlation coefficient (R2A=0.937) and the square of cross‐validation coefficient (q2=0.911) of this equation. The results show that the lipophilicity is a main factor affecting the anticancer activity of this series of antimetastatic agents, and the obtained equation describes a parabolic correlation between pIC50 and Clog P, and indicates a suitable range of Clog P (around 4.43) being very important for optimal pIC50 values. These QSAR studies can offer some useful references for understanding the action mechanism and performing the molecular design or modification of this series of antimetastatic agents.