bluuebunny/crossref_metadata_2025_split huggingface dataset:
Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report
Authors: Torrezan Giovana T , da Silva Felipe CC , Krepischi Ana CV , Santos Érika MM , de O Ferreira Fábio , Rossi Benedito M , Carraro Dirce M 
Published: September 2011

Abstract

Background

MUTYH-associated polyposis (MAP) is a recessive, hereditary, colorectal cancer-predisposing syndrome caused by biallelic mutations in the MUTYH gene. Most MUTYH pathogenic variants are missense mutations, and until recently no gross genomic deletions had been described.

Case Presentation
We have identified a large deletion in the MUTYH gene: a > 4.2 kb deletion encompassing exons 4-16. This is the second description of this rearrangement, which has been recently described as the first large deletion in this gene. The clinically suspected MAP patient was homozygous for this mutation and presented with no amplification products for 14 exons of MUTYH on initial screening. Deletion breakpoints were refined to base pair level through array comparative genomic hybridization (aCGH) analysis followed by sequencing. The identified breakpoints were located within intron 3 and 146 bp downstream of the 3' end of the gene, with the presence of an AluJr element adjacent to the distal breakpoint. The presence of a 2 bp insertion at the junction suggests the involvement of the non-homologous end joining (NHEJ) repair mechanism, possibly facilitated by rearrangement-promoting elements. Examination of the MUTYH locus revealed a high Alu density that may make this region prone to rearrangements.

Conclusion
Large deletions are a possible mechanism for loss of function of the MUTYH gene, and investigation of such mutations may be important in identifying causative mutations in MAP patients.
Gender-dependence of substituted judgment on quality of life in patients with dementia
Authors: Schiffczyk Claudia , Jonas Christina , Lahmeyer Constanze , Müller Friedemann , Riepe Matthias W 
Published: September 2011

Abstract

Background
Substituted judgment asks the proxy to decide what the patient would have decided, had he or she been competent. It is unclear whether substituted judgment of the patient's quality of life can serve as a surrogate measure in patients with dementia.

Methods
212 patients with dementia and their proxies were interviewed in their homes. Dementia syndrome was characterized with cognitive, non-cognitive and functional scales. Quality of life (QoL) was assessed with the QoL-AD.

Results
Substituted judgment of the patient's QoL was unrelated to dementia severity but also correlated with the proxie's own QoL (r = 0.356; p < 0.001). Gender-specific analysis reveals that for male proxies the most important variable is severity of patient's depression (r = -0.895; p = 0.001) while for female proxies it is the proxie's own QoL (r = 0.371; p < 0.001). Subjective burden correlates with the proxie's QoL in females (r = -0.282; p = 0.001) but not in males (r = -0.163, p = 0.161).

Conclusion
Substituted judgment of the patient's QoL does not correlate with dementia severity. Substituted judgment is subject to proxy-related variables in a gender-dependent fashion and therefore not suited to serve as an appropriate surrogate of the patients' quality of life.
Scoliotic posture as the initial symptom in adolescents with lumbar disc herniation: its curve pattern and natural history after lumbar discectomy
Authors: Zhu Zezhang , Zhao Qinghua , Wang Bin , Yu Yang , Qian Bangping , Ding Yitao , Qiu Yong 
Published: September 2011

Abstract

Background
There have been few studies focusing on the curve pattern of scoliosis caused by lumbar disc herniation (LDH) in adolescents and the natural history of scoliosis after discectomy. The current study was carried out to identify the curve pattern of scoliosis and investigate the effect of posterior discectomy on the curve improvement in adolescents with LDH.

Methods
This review focused on a group of 26 adolescents with LDH who initially presented to our clinic for evaluation of scoliosis, followed by posterior discectomy between 2000 and 2009. Radiographic measurements included curve pattern, specific curve features, trunk shift, and sagittal profile. The correlation between the side of disc herniation and the direction of lumbosacral curve and the trunk shift was evaluated.

Results
A typical curve pattern was initially identified in all of the patients as a short lumbosacral curve accompanied with a long thoracic or thoracolumbar curve toward the opposite side. 23 of 26 patients (88.5%) had a trunk shift more than 2.0 cm away from the midline, showing a poor coronal balance. A relatively straight sagittal profile was noted in all the patients. 84.6% (22/26) patients had a disc herniation at the convex side of lumbosacral curve. Similarly, 73.1% (19/26) patients showed a trunk shift toward the opposite side of disc herniation. All of the patients had an marked curve improvement immediately after discectomy. In the 17 patients with a more than 2-year follow-up, only two had a residual lumbosacral curve greater than or equal to 20 degrees. The mean ODI improved from 21.4% before surgery to 7.3% at the final follow-up.

Conclusions
A short lumbosacral curve accompanied with a long thoracic or thoracolumbar curve toward the opposite side, and a relatively straight sagittal profile have been noted in all the patients. The direction of lumbosacral curve and trunk shift was related to the side of disc herniation. A majority of patients have a small curve size while assosiated with a significant coronal imbalance. Earlier decompression can provide a greater opportunity for spontaneous correction of scoliosis.
Stages of change: A qualitative study on the implementation of a perinatal audit programme in South Africa
Authors: Belizán María , Bergh Anne-Marie , Cilliers Carolé , Pattinson Robert C , Voce Anna ,   the Synergy Group
Published: September 2011

Abstract

Background
Audit and feedback is an established strategy for improving maternal, neonatal and child health. The Perinatal Problem Identification Programme (PPIP), implemented in South African public hospitals in the late 1990s, measures perinatal mortality rates and identifies avoidable factors associated with each death. The aim of this study was to elucidate the processes involved in the implementation and sustainability of this programme.

Methods
Clinicians' experiences of the implementation and maintenance of PPIP were explored qualitatively in two workshop sessions. An analytical framework comprising six stages of change, divided into three phases, was used: pre-implementation (create awareness, commit to implementation); implementation (prepare to implement, implement) and institutionalisation (integrate into routine practice, sustain new practices).

Results
Four essential factors emerged as important for the successful implementation and sustainability of an audit system throughout the different stages of change: 1) drivers (agents of change) and team work, 2) clinical outreach visits and supervisory activities, 3) institutional perinatal review and feedback meetings, and 4) communication and networking between health system levels, health care facilities and different role-players.
During the pre-implementation phase high perinatal mortality rates highlighted the problem and indicated the need to implement an audit programme (stage 1). Commitment to implementing the programme was achieved by obtaining buy-in from management, administration and health care practitioners (stage 2).
Preparations in the implementation phase included the procurement and installation of software and training in its use (stage 3). Implementation began with the collection of data, followed by feedback at perinatal review meetings (stage 4).
The institutionalisation phase was reached when the results of the audit were integrated into routine practice (stage 5) and when data collection had been sustained for a longer period (stage 6).

Conclusion
Insights into the factors necessary for the successful implementation and maintenance of an audit programme and the process of change involved may also be transferable to similar low- and middle-income public health settings where the reduction of the neonatal mortality rate is a key objective in reaching Millennium Development Goal 4. A tool for reflecting on the implementation and maintenance of an audit programme is also proposed.
Joint redundant motion vector and intra macroblock refreshment for video transmission
Authors: Xiao Jimin , Tillo Tammam , Lin Chunyu , Zhao Yao 
Published: September 2011

Abstract
This paper proposes a scheme for error-resilient transmission of videos which jointly uses intra macroblock refreshment and redundant motion vector. The selection of using intra refreshment or redundant motion vector is determined by the rate-distortion optimization procedure. The end-to-end distortion is used for the rate-distortion optimization, which can be easily calculated with the recursive optimal per-pixel estimate (ROPE) method. Simulation results show that the proposed method outperforms both the intra refreshment approach and redundant motion vector approach significantly, when the two approaches are deployed separately. Specifically, for the Foreman sequence, the average PSNR of the proposed approach can be 1.12 dB higher than that of the intra refreshment approach and 5 dB higher than that of the redundant motion vector approach.
Sales of antidepressants, suicides and hospital admissions for depression in Veneto Region, Italy, from 2000 to 2005: an ecological study
Authors: Guaiana Giuseppe , Andretta Margherita , Griez Eric , Biancosino Bruno , Grassi Luigi 
Published: September 2011

Abstract

Background
Increased prescription of antidepressants has been consistently associated with a decrease in suicide rates in several countries. The aim of this study is to explore antidepressant consumption, suicide rates and admission for depression in the Veneto Region, Italy, in order to see whether the same pattern could be detected.

Methods
Data from the Italian Ministry of Health (admissions for depression), the Pharmacy Service of a Local Health Unit (antidepressant prescribing) and from the Epidemiological System of the Veneto region (suicide rates) were collected from 2000 to 2005 for the Veneto region.

Results
Suicide rates did not show any marked increase but were stable in males and females. Antidepressant prescribing increased exponentially over the period examined, whilst admissions for depression markedly decreased. The trend for an exponential increase in antidepressant prescribing in the Veneto region is shared with other countries and locales.

Conclusions
It is possible that the increase in antidepressant prescribing might be associated with earlier treatment of depression, thus decreasing the likelihood of aggravation of depression.
Computerized texture analysis of atypical immature myeloid precursors in patients with myelodysplastic syndromes: an entity between blasts and promyelocytes
Authors: Vido Joyce R , Adam Randall L , Lorand-Metze Irene GH , Metze Konradin 
Published: September 2011

Abstract

Background
Bone marrow (BM) blast count is an essential parameter for classification and prognosis of myelodysplastic syndromes (MDS). However, a high degree of cell atypias in bone marrow hemopoietic cells may be found in this group of clonal disorders, making it difficult to quantify precisely myeloblasts, and to distinguish them from promyelocytes and atypical immature myeloid precursors. Our aim was to investigate whether computerized image analysis of routine cytology would help to characterize these cells.

Methods
In May-Grünwald-Giemsa stained BM smears of 30 newly diagnosed MDS patients and 19 cases of normal BM, nuclei of blasts and promyelocytes were digitalized and interactively segmented. The morphological classification of the cells was done by consensus of two observers. Immature granulocytic precursors, which could not be clearly classified either as blasts or promyelocytes, were called "atypic myeloid precursors". Nuclear morphometry and texture features derived from the co-occurrence matrix and fractal dimension (FD) were calculated.

Results
In normal BM, when compared to myeloblasts, nuclei of promyelocytes showed significant increase in perimeter and local texture homogeneity and a decrease in form factor, chromatin gray levels, Haralick's entropy, inertia, energy, contrast, diagonal moment, cluster prominence, the fractal dimension according to Minkowski and its goodness-of-fit. Compared to normal myeloblast nuclei, the chromatin texture of MDS myeloblasts revealed higher local homogeneity and goodness-of-fit of the FD, but lower values of entropy, contrast, diagonal moment, and fractal dimension. The same differences were found between nuclei of normal promyelocytes and those of MDS. Nuclei of atypical myeloid precursors showed intermediate characteristics between those of blasts and promyelocytes according to the quantitative features (perimeter, form factor, gray level and its standard deviation), but were similar to promyelocytes according to the texture variables inertia, energy, contrast, diagonal moment, cluster prominence, and Minkowski's fractal dimension.

Conclusion
BM atypical immature myeloid precursors are difficult to be correctly classified in routine cytology. Although their cytoplasm is more similar to that of myeloblasts, computerized texture analysis indicates a nuclear chromatin remodeling more close to the promyelocyte, thus indicating an asynchronous intermediate maturation stage between blast and promyelocyte.
A highly efficient rice green tissue protoplast system for transient gene expression and studying light/chloroplast-related processes
Authors: Zhang Yang , Su Jianbin , Duan Shan , Ao Ying , Dai Jinran , Liu Jun , Wang Peng , Li Yuge , Liu Bing , Feng Dongru , Wang Jinfa , Wang Hongbin 
Published: September 2011

Abstract

Background
Plant protoplasts, a proven physiological and versatile cell system, are widely used in high-throughput analysis and functional characterization of genes. Green protoplasts have been successfully used in investigations of plant signal transduction pathways related to hormones, metabolites and environmental challenges. In rice, protoplasts are commonly prepared from suspension cultured cells or etiolated seedlings, but only a few studies have explored the use of protoplasts from rice green tissue.

Results
Here, we report a simplified method for isolating protoplasts from normally cultivated young rice green tissue without the need for unnecessary chemicals and a vacuum device. Transfections of the generated protoplasts with plasmids of a wide range of sizes (4.5-13 kb) and co-transfections with multiple plasmids achieved impressively high efficiencies and allowed evaluations by 1) protein immunoblotting analysis, 2) subcellular localization assays, and 3) protein-protein interaction analysis by bimolecular fluorescence complementation (BiFC) and firefly luciferase complementation (FLC). Importantly, the rice green tissue protoplasts were photosynthetically active and sensitive to the retrograde plastid signaling inducer norflurazon (NF). Transient expression of the GFP-tagged light-related transcription factor OsGLK1 markedly upregulated transcript levels of the endogeneous photosynthetic genes OsLhcb1, OsLhcp, GADPH and RbcS, which were reduced to some extent by NF treatment in the rice green tissue protoplasts.

Conclusions
We show here a simplified and highly efficient transient gene expression system using photosynthetically active rice green tissue protoplasts and its broad applications in protein immunoblot, localization and protein-protein interaction assays. These rice green tissue protoplasts will be particularly useful in studies of light/chloroplast-related processes.
No psychiatry without psychopharmacology
Authors: Harrison Paul J. , Baldwin David S. , Barnes Thomas R. E. , Burns Tom , Ebmeier Klaus P. , Ferrier I. Nicol , Nutt David J. 
Published: September 2011

SummaryThe use of psychotropic medication is an important part of most psychiatrists' clinical practice. We propose here that psychiatry needs to give more prominence to psychopharmacology in order to ensure that psychiatric drugs are used effectively and safely. The issue has several ramifications, including the future of psychiatry as a medical discipline.
Stigmatised attitudes towards the ‘stressed’ or ‘ill’ models of mental illness
Authors: Luty Jason , Easow Joby Maducolil , Mendes Vania 
Published: September 2011

Aims and methodTackling discrimination, stigma and inequalities in mental health is a major objective of the UK government. The project aimed to determine the effect of presenting a person with a mental illness as having either a biological illness or a disorder that arose from psychosocial stress to a randomised representative panel of members of the general public. The 20-point Attitude to Mental Illness Questionnaire (AMIQ) was used to assess stigmatised attitudes.ResultsOverall, 187 individuals returned their questionnaires (74% response rate). The mean AMIQ stigma score for the ‘ill’ group was 1.4 (s.e. = 0.3; n = 94). The mean AMIQ score for the ‘stress’ group was 0.5 (s.e. = 0.3; median n = 106; P = 0.0837, median difference = 1; power (for 5% significance) 81%).Clinical implicationsThere was no difference in the stigmatised attitudes towards a person with mental illness regardless of whether they were presented as biologically ill or as having an illness that was a response to psychosocial stress.
Use of anti-dementia drugs and delayed care home placement: an observational study
Authors: Salib Emad , Thompson Jessica 
Published: September 2011

Aims and methodTo examine the association between the use of cholinesterase inhibitors (ChEIs) and time to care home placement. We compared patients who were prescribed ChEIs in 2006 with those who were not with respect to their placement in care homes over a 4-year period, using survival analysis.ResultsDuring the first 30 months of follow-up there was a delay in care home placement by a median of 12 months in those who took ChEIs compared with those who did not. However, at the end of the follow-up there was no significant reduction in the probability of being in a care home setting between those who had taken ChEIs compared with those who had not (hazard ratio 0.75, 95% CI 0.25–6, P = 0.1).Clinical implicationsThe study provides some evidence to suggest that prescribing ChEIs may be associated with a delay in the timing of care home placement as observed in the first 2.5 years of treatment. However, based on purely observational data, no conclusion can be made as to whether such association is causal.
Online discussion forums for young people who self-harm: user views
Authors: Jones Ray , Sharkey Siobhan , Ford Tamsin , Emmens Tobit , Hewis Elaine , Smithson Janet , Sheaves Bryony , Owens Christabel 
Published: September 2011

Aims and methodTo explore what young people who self-harm think about online self-harm discussion forums. SharpTalk was set up to facilitate shared learning between health professionals and young people who self-harm. We extracted themes and illustrative statements from the online discussion and asked participants to rate statements.ResultsOf 77 young people who participated in the forum, 47 completed the questionnaire. They said they learned more about mental health issues from online discussion forums than from information sites, found it easier to talk about self-harm to strangers than to family or friends, and preferred to talk online than face-to-face or on the telephone. They valued the anonymity the forums provided and reported feeling more able to disclose and less likely to be judged online than in ‘real life’.Clinical implicationsMental health professionals should be aware of the value of anonymous online discussion forums for some young people who self-harm, so that they can talk about them and assess their use with their patients.
Impact of socioeconomic factors on in-patient length of stay and their consequences in per case hospital payment systems
Authors: Perelman Julian , Closon Marie-Christine 
Published: September 2011

Objectives: The number of countries adopting per case hospital payment systems has been continuously increasing in recent years. Nonetheless, debates persist regarding their consequences for equity of access to services. This concern relates to the failure of diagnostic classifications properly to take into account patients’ care requirements, raising the threat of case selection (‘cream skimming’). We examine the heterogeneity of costs within diagnostic categories related to socioeconomic (SE) factors using length of stay (LOS) as a proxy measure of care needs and costs. We evaluate its consequences in terms of fairness in resource allocation between hospitals. Methods: We employ data on all discharges in 2002-03 from a sample of 60 Belgian hospitals (617,275 observations), measuring the association between LOS and SE factors using generalized linear models. We design a resource allocation formula based on the Belgian financing scheme, where non-medical activity is paid based on a normative number of in-patient days, and measure financial penalties and rewards according to whether payment is adjusted for the SE characteristics of patients or not. Results: Both patients’ SE status and hospitals’ area SE profile have a significant impact on LOS, which persists after controlling for detailed diagnostic and hospital characteristics. Hospitals treating low income patients are financially penalized as a result. Conclusion: SE factors are a predictor of in-patient LOS and should be taken into account in per case resource allocation among hospitals.
Morphological responses of Betula protoplasts in fiber spinning
Authors: Seyama Tomoko , Kondo Tetsuo 
Published: September 2011

Abstract
In a previous article, it was reported that, under stress conditions caused by Ca2+ ions, isolated protoplasts of Betula platyphylla leaves release a bundle of hollow fibrils as a stress-induced response. In the present article, details of this phenomenon have been investigated. As a special method, light microscopy combined with a ‘through focus variation’ technique was applied. In a regular culture medium, protoplasts could regenerate the cell walls, whereas protoplasts submitted to Ca2+ stress could not. Under stress conditions, the protoplasts inflated and formed a huge vacuole and, after 28 days, secreted the peculiar gigantic fibril with a diameter of 150 μm. The giant fibril is composed of (1→3)-β-glucan chains, i.e., the material of callose tissue.