bluuebunny/crossref_metadata_2025_split huggingface dataset:
Who rules rare disease associations? A framework to understand their action
Authors: Huyard Caroline 
Published: July 2009

AbstractThe inner structure of so‐called ‘patients’ organisations’ has been accorded relatively little attention with respect to their increasing role in the medical world. This comparative study in France of eight such organisations, matching six rare disorders, explores the issue of power and decision making through the description of the entities that make up the organisation (and especially which stakeholders are represented), their mutual relationships, the temporal scope of collective action, and the concrete achievements of the organisation. Two main types of organisation are distinguished: ‘pluralistic’ organisations (that bring together a broad array of different stakeholders who are willing to work together) and ‘monistic’ organisations (where a single category of stakeholders firmly takes the lead). Their operations are very different and result from the association’s composition. A key finding is that both the usual opposition between lay and expert and the reference to the diseases’ characteristics prove to be irrelevant to understanding these organisations. Rather, the composition of the leading group is crucial.
Semiparametric Estimation and Inference for Distributional and General Treatment Effects
Authors: Cheng Jing , Qin Jing , Zhang Biao 
Published: July 2009

SummaryThere is a large literature on methods of analysis for randomized trials with noncompliance which focuses on the effect of treatment on the average outcome. The paper considers evaluating the effect of treatment on the entire distribution and general functions of this effect. For distributional treatment effects, fully non-parametric and fully parametric approaches have been proposed. The fully non-parametric approach could be inefficient but the fully parametric approach is not robust to the violation of distribution assumptions. We develop a semiparametric instrumental variable method based on the empirical likelihood approach. Our method can be applied to general outcomes and general functions of outcome distributions and allows us to predict a subject’s latent compliance class on the basis of an observed outcome value in observed assignment and treatment received groups. Asymptotic results for the estimators and likelihood ratio statistic are derived. A simulation study shows that our estimators of various treatment effects are substantially more efficient than the currently used fully non-parametric estimators. The method is illustrated by an analysis of data from a randomized trial of an encouragement intervention to improve adherence to prescribed depression treatments among depressed elderly patients in primary care practices.
Laryngeal squamous cell carcinoma in HIV‐positive patients: lack of association with human papillomavirus infection
Authors: Moyano S , Ordi J , Caballero M , Garcia F , Diaz A , De Sanjose S , Cardesa A , Alos L 
Published: July 2009

Objectives
Neoplasms associated with human papillomavirus (HPV) infection occur at increased frequency in patients with HIV infection/AIDS. Although laryngeal squamous cell carcinomas (LSCCs) in HIV‐positive patients are uncommon, a higher incidence of this malignancy in HIV‐positive patients than in the general population has been reported. As a proportion of LSCCs are associated with HPV in the general population, the clinicopathological features of a series of LSCCs developing in HIV‐positive patients were evaluated to investigate the possible relationship with HPV infection, and infection with other oncogenic viruses.Methods
All HIV‐positive patients with LSCC diagnosed at a single institution from 1998 to 2007 were retrospectively evaluated. The clinicopathological features were analysed and tissues were tested by polymerase chain reaction (PCR), using the short PCR fragment 10 (SPF10) primer, a highly sensitive method for HPV DNA detection. Immunohistochemical studies for HIV p24, p16INK4a and p53 were performed. Epstein–Barr virus (EBV) and human herpes virus 8 (HHV‐8) were also investigated.Results
Six out of 4987 HIV‐infected patients seen in this period in the Infectious Diseases Department developed LSCC (median age 41.5 years; male to female ratio 1:1). All patients were heavy smokers and the tumours presented at an advanced clinical stage. HPV was not detected in any tumour, not even in two patients with coexisting HPV‐associated gynaecological neoplasm. Staining for HIV p24 and p16INK4a was negative, whereas p53 was positive in half the cases. EBV and HHV‐8 were also negative.Conclusion
LSCC developing in HIV‐positive patients is an infrequent neoplasm, not usually associated with HPV infection. It develops in young, heavy smokers and presents at an advanced clinical stage.
Repetitive transcranial magnetic stimulation improve tinnitus in normal hearing patients: a double‐blind controlled, clinical and neuroimaging outcome study
Authors: Marcondes R. A. , Sanchez T. G. , Kii M. A. , Ono C. R. , Buchpiguel C. A. , Langguth B. , Marcolin M. A. 
Published: July 2009

Background and purpose:  Tinnitus is a frequent disorder which is very difficult to treat and there is compelling evidence that tinnitus is associated with functional alterations in the central nervous system. Targeted modulation of tinnitus‐related cortical activity has been proposed as a promising new treatment approach. We aimed to investigate both immediate and long‐term effects of low frequency (1 Hz) repetitive transcranial magnetic stimulation (rTMS) in patients with tinnitus and normal hearing.Methods:  Using a parallel design, 20 patients were randomized to receive either active or placebo stimulation over the left temporoparietal cortex for five consecutive days. Treatment results were assessed by using the Tinnitus Handicap Inventory. Ethyl cysteinate dimmer‐single photon emission computed tomography (SPECT) imaging was performed before and 14 days after rTMS.Results:  After active rTMS there was significant improvement of the tinnitus score as compared to sham rTMS for up to 6 months after stimulation. SPECT measurements demonstrated a reduction of metabolic activity in the inferior left temporal lobe after active rTMS.Conclusion:  These results support the potential of rTMS as a new therapeutic tool for the treatment of chronic tinnitus, by demonstrating a significant reduction of tinnitus complaints over a period of at least 6 months and significant reduction of neural activity in the inferior temporal cortex, despite the stimulation applied on the superior temporal cortex.
PedStr Software for Cutting Large Pedigrees for Haplotyping, IBD Computation and Multipoint Linkage Analysis
Authors: Kirichenko Anatoly V. , Belonogova Nadezhda M. , Aulchenko Yurii S. , Axenovich Tatiana I. 
Published: July 2009

SummaryWe propose an automatic heuristic algorithm for splitting large pedigrees into fragments of no more than a user‐specified bit size. The algorithm specifically aims to split large pedigrees where many close relatives are genotyped and to produce a set of sub‐pedigrees for haplotype reconstruction, IBD computation or multipoint linkage analysis with the help of the Lander‐Green‐Kruglyak algorithm. We demonstrate that a set of overlapping pedigree fragments constructed with the help of our algorithm allows fast and effective haplotype reconstruction and detection of an allele's parental origin. Moreover, we compared pedigree fragments constructed with the help of our algorithm and existing programs PedCut and Jenti for multipoint linkage analysis. Our algorithm demonstrated significantly higher linkage power than the algorithm of Jenti and significantly shorter running time than the algorithm of PedCut. The software package PedStr implementing our algorithms is available at http://mga.bionet.nsc.ru/soft/index.html.
NCAM and polysialyltransferase profiles match dopaminergic marker gene expression but polysialic acid is dispensable for development of the midbrain dopamine system
Authors: Schiff Miriam , Weinhold Birgit , Grothe Claudia , Hildebrandt Herbert 
Published: July 2009

AbstractThe modification of the neural cell adhesion molecule (NCAM) with polysialic acid plays a pivotal role in the developing nervous system. Here we studied the expression and function of polysialic acid during development of the mesencephalic dopaminergic system of mice. Using immunohistochemistry, polysialic acid was detected on nestin‐positive radial glia processes and on cell somata in the pial zone of the midbrain at embryonic day E11.5 and E14.5. As studied by quantitative real‐time RT‐PCR, mRNA profiles of NCAM and the polysialyltransferases, ST8SiaII and ST8SiaIV, matched the course of tyrosine hydroxylase, dopamine transporter, nur‐related factor 1, and paired‐like homeodomain transcription factor 3 expression, which were used as marker genes of dopaminergic development. Asking for a possible role of polysialylation during formation of the dopaminergic system, mice lacking polysialic acid because of ablation of both St8siaII and St8siaIV were analyzed at selected time points by tyrosine hydroxylase immunohistochemistry and by real‐time RT‐PCR of dopaminergic markers. Surprisingly, no differences between wild‐type and mutant mice could be detected. Likewise, enzymatic removal of polysialic acid from cultured neurons of the ventral embryonic midbrain had no effect on the expression of dopaminergic marker genes. We conclude that despite its abundance polysialic acid is dispensable for the formation of the mesencephalic dopaminergic system.
Identification of two Lynx proteins in Nilaparvata lugens and the modulation on insect nicotinic acetylcholine receptors
Authors: Liu Zewen , Cao Guangchun , Li Jian , Bao Haibo , Zhang Yongjun 
Published: July 2009

AbstractNicotinic acetylcholine receptors (nAChRs) mediate fast cholinergic synaptic transmission in the insect brain and are targets for neonicotinoid insecticides. Some proteins, other than nAChRs themselves, might play important roles in insect nAChRs function in vivo and in vitro, such as the chaperone, regulator and modulator. Here we report the identification of two nAChR modulators (Nl‐lynx1 and Nl‐lynx2) in the brown planthopper, Nilaparvata lugens. Analysis of amino acid sequences of Nl‐lynx1 and Nl‐lynx2 reveals that they are two members of the Ly‐6/neurotoxin superfamily, with a cysteine‐rich consensus signature motif. Nl‐lynx1 and Nl‐lynx2 only increased agonist‐evoked macroscopic currents of hybrid receptors Nlα1/β2 expressed in Xenopus oocytes, but not change the agonist sensitivity and desensitization properties. For example, Nl‐lynx1 increased Imax of acetylcholine and imidacloprid to 3.56‐fold and 1.72‐fold of that of Nlα1/β2 alone, and these folds for Nl‐lynx2 were 3.25 and 1.51. When the previously identified Nlα1Y151S mutation was included (Nlα1Y151S/β2), the effects of Nl‐lynx1 and Nl‐lynx2 on imidacloprid responses, but not acetylcholine response, were different from that in Nlα1/β2. The increased folds in imidacloprid responses by Nl‐lynx1 and Nl‐lynx2 were much higher in Nlα1Y151S/β2 (3.25‐fold and 2.86‐fold) than in Nlα1/β2 (1.72‐fold and 1.51‐fold), which indicated Nl‐lynx1 and Nl‐lynx2 might also serve as an influencing factor in target‐site insensitivity in N. lugens. These findings indicate that nAChRs chaperone, regulator and modulator may be of importance in assessing the likely impact of the target‐site mutations such as Y151S upon neonicotinoid insecticide resistance.
Collecting Routine Outcome Data in a Psychotherapy Community Clinic for Young People: Findings from an Ongoing Study
Authors: Baruch Geoffrey , Vrouva Ioanna 
Published: July 2009

Background:  The paper reports on the collection of routine outcome data from an ongoing audit at a voluntary sector psychotherapy service for young people aged 12 to 21 years in London offering once‐weekly psychotherapy.Method:  The study uses intake and follow‐up data from an ongoing audit of the psychotherapy service that started in 1993; 1608 young people were included in the study. Measures and areas of interest include the Youth Self Report Form, a significant other (SO) version of the Teacher’s Report Form, the Young Adult Self Report Form, and the Young Adult Behaviour Check List.Results:  Percentage returns at intake were 94% (self), 66% (SO) and 80% (therapist), but became 35%, 21% and 38% at 3‐month follow‐up, and decreased further at 6‐ and 12‐month follow‐up. At all time points, significant other report rates were lower than self or therapist report rates. Young people who did not provide data at intake were more likely to have dropped out of treatment. Over the 15‐year period of the audit, intake self‐report data rates remained stable (about 94%) whereas SO and especially therapist report rates increased. However, there was a reduction in self, significant other and therapist report rates at 3‐ and 6‐month follow‐up.Conclusions:  Collecting routine outcome data was compromised by a variety of factors, and systematic efforts, including introducing initiatives for participation are needed to increase follow‐up data rates and improve their quality.
Youth Therapist Strategies to Enhance Client Homework Completion
Authors: Houlding Carolyn , Schmidt Fred , Walker Diane 
Published: July 2009

Background:  This study examined strategies youth therapists use to attempt to enhance their clients’ therapeutic homework completion.Method:  Thirty‐two youth mental health therapists participated. All participants completed a ‘Follow‐Through Strategy’ survey and 13 also participated in a semi‐structured interview. Interviews were recorded, transcribed and analysed.Results:  On the survey, therapists reported using a broad range of strategies to attempt to enhance therapeutic homework completion. Interview results indicated participants emphasized strategies related to therapeutic engagement to attempt to enhance homework completion.Conclusions:  Future studies should employ prospective design and examine the differential and collective impact of strategies therapists described using.
The role of myeloperoxidase in the pathogenesis of postoperative adhesions
Authors: Saed Ghassan M. , Jiang Zhongliang , Diamond Michael P. , Abu‐Soud Husam M. 
Published: July 2009

ABSTRACTHypoxia induces the adhesion phenotype, characterized by enhanced extracellular matrix molecule and cytokine expression. Additionally, hypoxia reduces myeloperoxidase (MPO) activity in normal peritoneal fibroblasts to basal levels of adhesion fibroblasts indicating the importance of this enzyme in the development of the adhesion phenotype and also in tissue fibrosis. Immunohistochemistry was used to detect and localize MPO and inducible nitric oxide synthase (iNOS) in fibroblasts. Silencing of these genes was performed using siRNA technology. Levels of iNOS, MPO, type I collagen, and transforming growth factor were detected using real‐time reverse transcription‐polymerase chain reaction (RT‐PCR), while HPLC was used to measure nitrate/nitrite levels. Our results show a unique interaction between MPO and iNOS, which are colocalized in both cell lines. Silencing iNOS reduced MPO and nitric oxide levels while silencing MPO had similar results, but to a lesser extent in both cell types. Additionally, silencing iNOS reduced type I collagen and transforming growth factor‐β in adhesion fibroblasts, but to a lesser extent in peritoneal fibroblasts. These studies identify MPO and iNOS as key enzymes in the cellular response to hypoxia and consequent development of tissue fibrosis.
Collagen cross‐linking by adipose‐derived mesenchymal stromal cells and scar‐derived mesenchymal cells: Are mesenchymal stromal cells involved in scar formation?
Authors: Van Den Bogaerdt Antoon J. , Van Der Veen Vincent C. , Van Zuijlen Paul P.M. , Reijnen Linda , Verkerk Michelle , Bank Ruud A. , Middelkoop Esther , Ulrich Magda M.W. 
Published: July 2009

ABSTRACTIn this work, different fibroblast‐like (mesenchymal) cell populations that might be involved in wound healing were characterized and their involvement in scar formation was studied by determining collagen synthesis and processing. Depending on the physical and mechanical properties of the tissues, specific collagen cross‐linking routes are followed. In skin the cross‐linking of the pyridinium type is normally very low; however, in different forms of fibrosis increased levels of this type of cross‐linking have been found. The enzyme lysyl hydroxylase‐2b (LH‐2b) plays a crucial role in this type of cross‐linking. The gene expression levels of LH‐2b, α‐smooth muscle actin, and collagen types I and III were determined in dermis, subcutaneous fat, and (hypertrophic) scar tissue as well as in isolated cultured mesenchymal cells derived from these tissues, by real‐time RT‐polymerase chain reaction. Cultured mesenchymal cells from fat and scar tissue as well as the tissues itself showed significantly higher expression of LH‐2b, α‐SMA, and collagen type I than dermal mesenchymal cells. LH‐2b‐dependent pyridinium cross‐linking was significantly enhanced in fat and scar tissue compared with dermis. FACS analysis was performed to characterize the fibroblast‐like cells from the dermis, fat, and scar tissue. All cell populations express the distinct pattern of CD markers also expressed by mesenchymal stromal cells. Furthermore, parts of these cell populations were able to differentiate into adipocytes, chondrocytes, and osteoblasts. We conclude, therefore, that mesenchymal (stem) cells from the subcutaneous fat might be responsible for the accumulation of collagen in these scars.
A chronic pressure ulcer model in the nude mouse
Authors: Wassermann Esther , Van Griensven Martijn , Gstaltner Karin , Oehlinger Wolfgang , Schrei Karl , Redl Heinz 
Published: July 2009

ABSTRACTThe pathophysiology of pressure ulcers is not yet fully understood. Widely used experimental models lead to pressure ulcers in the skin and the subcutaneous tissue only. The aim of the present study was to develop a clinically relevant deep pressure ulcer model in nude mice involving all relevant tissue layers. Balb/c nude mice were anesthetized and a steel disk was implanted under the great gluteus muscle. Full recovery was allowed for 10 days. Pressure was then periodically applied (2 hours compression, 1 hour recovery) using a Neodymium magnet in conjunction with the disk in the unanesthetized mouse. Cycles were repeated for 1, 4, 6, 8, or 10 times. Controls underwent the same procedure without placement of the magnet. The pressure ulcer grade was found to be cycle dependent,with the highest degree after 10 cycles. Histological evaluations revealed signs of necrosis in the skin and subcutaneous fat after four, and in the muscle after eight and 10 cycles of compression. Polymorphnuclear granulocyte infiltration in certain layers was found to be dependent on the number of cycles. We conclude that this clinically relevant nude mouse model can be used to investigate the mechanism of pressure ulcer development and to study new therapeutic approaches.
Comparative in vitro study on cytotoxicity, antimicrobial activity, and binding capacity for pathophysiological factors in chronic wounds of alginate and silver‐containing alginate
Authors: Wiegand Cornelia , Heinze Thomas , Hipler Uta‐Christina 
Published: July 2009

ABSTRACTChronic wounds contain elevated levels of proteases, proinflammatory cytokines, and free radicals. The presence of bacteria further exaggerates the tissue‐damaging processes. For successful treatment, the wound dressing needs to manage wound exudates, create a moist environment, inhibit infection, bind pathophysiological factors that are detrimental to wound healing, and provide thermal isolation. Furthermore, it has to relieve pain, be easy to use, show no allergic potency, and not release toxic residues. The present study suggests a comprehensive in vitro approach to enable the assessment of wound dressings to support optimal conditions for wound healing. Three alginate‐based wound dressings: alginate alone, alginate containing ionic silver, and alginate with nanocrystalline silver, were tested for biocompatibility, antimicrobial activity, and influence on chronic wound parameters such as elastase, matrix metalloproteases‐2, tumor necrosis factor‐α, interleukin‐8, and free radical formation. Alginate was found to bind considerable amounts of elastase, reduce the concentration of proinflammatory cytokines and inhibit the formation of free radicals. Furthermore, alginate showed antibacterial activity and high biocompatibility. Incorporation of silver into alginate fibers increased antimicrobial activity and improved the binding affinity for elastase, matrix metalloproteases‐2, and the proinflammatory cytokines tested. Addition of silver also enhanced the antioxidant capacity. However, a distinct negative effect of silver‐containing alginates on human HaCaT keratinocytes was noted in vitro.
Impact of injection drug use on distribution and severity of chronic venous disorders
Authors: Pieper Barbara , Templin Thomas N. , Kirsner Robert S. , Birk Thomas J. 
Published: July 2009

ABSTRACTWe examined chronic venous disorders (CVD) in persons who injected illicit drugs. The study design was cross‐sectional, comparative stratified by age, gender, ethnicity, as well as by three types of drug use (noninjection; arm or upper body injection only; and legs with or without upper body injection). Subjects completed demographic, health, and substances abuse questionnaires and were evaluated using the clinical component of the Clinical‐Etiology‐Anatomy‐Pathophysiology Classification. Seven hundred and thirteen participants were evaluated. Those who injected in the legs ± arms had significantly worse CVD. Thirty‐nine percent of leg ± arm injectors vs. 4.2% or noninjectors or arm only injectors had moderate to severe CVD. Persons who injected in the legs ± arms were 9.14 times more likely to develop venous ulcers than those that injected in the arms and upper body only and 34.64 times more likely as those who never injected. CVD was associated with injecting in the groin, legs and feet as compared with other sites. The pattern of disorders associated with leg injection is consistent with the underlying pathology of chronic venous insufficiency.
Adenovirus‐mediated METH1 gene expression inhibits hypertrophic scarring in a rabbit ear model
Authors: Song Baoqiang , Zhang Wei , Guo Shuzhong , Han Yan , Zhang Yang , Ma Fucheng , Zhang Linxi , Lu Kaihua 
Published: July 2009

ABSTRACTHypertrophic scarring remains a major problem for patients who have suffered from surgeries or burns. Vascularization plays an important role in the early phase of hypertrophic scarring. Therefore, the inhibition of angiogenesis might be used as a preventive strategy. In this study, we assessed the effect of anti‐angiogenesis resulting from adenovirus‐mediated METH1 (metalloprotease and thrombospondin1) gene expression on the hypertrophic scar formation in a rabbit ear model of hypertrophic scarring. We first investigated the number of microvessel and microcirculatory perfusion in untreated scars on days 10, 30, 60, and 90 after epithelialization. Then, we examined the effect of anti‐angiogenesis by adenovirus‐mediated METH1 expression on hypertrophic scar formation by calculating the scar elevation index, counting the microvessel and argyrophilic nucleolar organizer region particle, and detecting the amount of collagen on days 30 and 60 after treatment. We found that untreated scar tissues at the proliferative phase (days 10–60 after epithelialization) had a significantly higher density of microvessel and microcirculatory perfusion than those at the mature phase (day 90 after epithelization) (both p<0.05). On days 30 and 60 after treatment, the hypertrophic scar formation was significantly inhibited in the treatment group. There was significantly reduced scar elevation index, microvessel count, number of argyrophilic nucleolar organizer region, and total collagen content for treated scars. Our results demonstrate that METH1 has a markedly inhibitive effect on the formation of hypertrophic scar, and may thus have a promising application in the prevention of human hyperthropic scars.