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1.
Maité Garrouste-Orgeas Antoine Périer Philippe Mouricou Charles Grégoire Cédric Bruel Sandie Brochon Fran?ois Philippart Adeline Max Benoit Misset 《PloS one》2014,9(10)
Purpose
Keeping an ICU patient diary has been reported to benefit the patient''s recovery. Here, we investigated the families'' experience with reading and writing in patient ICU diaries kept by both the family and the staff.Methods
We conducted a qualitative study involving 32 semi-structured in-depth interviews of relatives of 26 patients (34% of all family members who visited patients) who met our ICU-diary criterion, i.e., ventilation for longer than 48 hours. Grounded theory was used to conceptualise the interview data via a three-step coding process (open coding, axial coding, and selective coding).Results
Communicative, emotional, and humanising experiences emerged from our data. First, family members used the diaries to access, understand, and assimilate the medical information written in the diaries by staff members, and then to share this information with other family members. Second, the diaries enabled family members to maintain a connection with the patient by documenting their presence and expressing their love and affection. Additionally, families confided in the diaries to maintain hope. Finally, family members felt the diaries humanized the medical staff and patient.Conclusions
Our findings indicate positive effects of diaries on family members. The diaries served as a powerful tool to deliver holistic patient- and family-centered care despite the potentially dehumanising ICU environment. The diaries made the family members aware of their valuable role in caring for the patient and enhanced their access to and comprehension of medical information. Diaries may play a major role in improving the well-being of ICU-patient families. 相似文献2.
Yilu Wang Zhimin Wang Qi Yang Yubao Zou Hongju Zhang Chaowu Yan Xinxing Feng Yi Chen Yin Zhang Jizheng Wang Xianliang Zhou Ferhaan Ahmad Rutai Hui Lei Song 《PloS one》2013,8(6)
Background
Hypertrophic cardiomyopathy (HCM) due to mutations in genes encoding sarcomere proteins is most commonly inherited as an autosomal dominant trait. Since nearly 50% of HCM cases occur in the absence of a family history, a recessive inheritance pattern may be involved.Methods
A pedigree was identified with suspected autosomal recessive transmission of HCM. Twenty-six HCM-related genes were comprehensively screened for mutations in the proband with targeted second generation sequencing, and the identified mutation was confirmed with bi-directional Sanger sequencing in all family members and 376 healthy controls.Results
A novel missense mutation (c.1469G>T, p.Gly490Val) in exon 17 of MYBPC3 was identified. Two siblings with HCM were homozygous for this mutation, whereas other family members were either heterozygous or wild type. Clinical evaluation showed that both homozygotes manifested a typical HCM presentation, but none of others, including 5 adult heterozygous mutation carriers up to 71 years of age, had any clinical evidence of HCM.Conclusions
Our data identified a MYBPC3 mutation in HCM, which appeared autosomal recessively inherited in this family. The absence of a family history of clinical HCM may be due to not only a de novo mutation, but also recessive mutations that failed to produce a clinical phenotype in heterozygous family members. Therefore, consideration of recessive mutations leading to HCM is essential for risk stratification and genetic counseling. 相似文献3.
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Background
CPD1 (also known as ANP32-E) belongs to a family of evolutionarily conserved acidic proteins with leucine rich repeats implicated in a variety of cellular processes regulating gene expression, vesicular trafficking, intracellular signaling and apoptosis. Because of its spatiotemporal expression pattern, CPD1 has been proposed to play an important role in brain morphogenesis and synaptic development.Methodology/Principal Findings
We have generated CPD1 knock-out mice that we have subsequently characterized. These mice are viable and fertile. However, they display a subtle neurological clasping phenotype and mild motor deficits.Conclusions/Significance
CPD1 is not essential for normal development; however, it appears to play a role in the regulation of fine motor functions. The minimal phenotype suggests compensatory biological mechanisms. 相似文献6.
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Background
Alpha 2 Macroglobulin family members have been studied extensively with respect to their roles in physiology and human disease including innate immunity and Alzheimer''s disease, but little is known about a possible role in liver development loss-of-function in model systems.Principal Findings
We report the isolation of the zebrafish α2 macroglobulin-like (A2ML) gene and its specific expression in the liver during differentiation. Morpholino-based knock-down of A2ML did not block the initial formation of the liver primordium, but inhibited liver growth and differentiation.Significance
This report on A2ML function in zebrafish development provides the first evidence for a specific role of an A2M family gene in liver formation during early embryogenesis in a vertebrate. 相似文献8.
William G Hill 《遗传、选种与进化》2013,45(1):32
Background
Traditionally, heritability and other genetic parameters are estimated from between-family variation. With the advent of dense genotyping, it is now possible to compute the proportion of the genome that is shared by pairs of sibs and thus undertake the estimation within families, thereby avoiding environmental covariances of family members. Formulae for the sampling variance of estimates have been derived previously for families with two sibs, which are relevant for humans, but sampling errors are large. In livestock and plants much larger families can be obtained, and simulation has shown sampling variances are then much smaller.Methods
Based on the assumptions that realised relationship of sibs can be obtained from genomic data and that data are analyzed by restricted maximum likelihood, formulae were derived for the sampling variance of the estimates of genetic variance for arbitrary family sizes. The analysis used statistical differentiation, assuming the variance of relationships is small.Results
The variance of the estimate of the additive genetic variance was approximately proportional to 1/ (fn2), for f families of size n and variance of relationships .Conclusions
Because the standard error of the estimate of heritability decreased in proportion to family size, the use of within-family information becomes increasingly efficient as the family size increases. There are however, limitations, such as near complete confounding of additive and dominance variances in full sib families. 相似文献9.
Background
Pediatric acute myeloid leukemia (AML) remains a challenging disease to treat even with intensified cytarabine-based chemotherapy. Histone deacetylases (HDACs) have been reported to be promising therapeutic targets for treating AML. However, HDAC family members that are involved in chemotherapy sensitivities remain unknown. In this study, we sought to identify members of the HDAC family that are involved in cytarabine sensitivities, and to select the optimal HDACI that is most efficacious when combined with cytarabine for treating children with AML.Methodology
Expression profiles of classes I, II, and IV HDACs in 4 pediatric AML cell lines were determined by Western blotting. Inhibition of class I HDACs by different HDACIs was measured post immnunoprecipitation. Individual down-regulation of HDACs in pediatric AML cells was performed with lentiviral shRNA. The effects of cytarabine and HDACIs on apoptosis were determined by flow cytometry analysis.Results
Treatments with structurally diverse HDACIs and HDAC shRNA knockdown experiments revealed that down-regulation of both HDACs 1 and 6 is critical in enhancing cytarabine-induced apoptosis in pediatric AML, at least partly mediated by Bim. However, down-regulation of HDAC2 may negatively impact cytarabine sensitivities in the disease. At clinically achievable concentrations, HDACIs that simultaneously inhibited both HDACs 1 and 6 showed the best anti-leukemic activities and significantly enhanced cytarabine-induced apoptosis.Conclusion
Our results further confirm that HDACs are bona fide therapeutic targets for treating pediatric AML and suggest that pan-HDACIs may be more beneficial than isoform-specific drugs. 相似文献10.
Background
A functional role of microRNAs (miRNAs or miRs) in neoplasia and metastasis is becoming clear, and the miR-200 family has received much attention for potentially regulating tumor progression. The miRNAs of this family have been shown to suppress epithelial-mesenchymal transition, and their down-regulation in some tumors promotes invasion and metastasis. Interestingly, while miR-200 is down-regulated in some cancers, it is up-regulated in others.Principal Findings
We show that levels of miR-200 are increased in melanoma cell lines compared to normal melanocytes and that miR-200 family members play a role in determining modes of tumor cell migration. Individual tumor cells can invade in either elongated, “mesenchymal-type” or rounded, “amoeboid-like” modes and these two modes of invasion are inter-convertible [1]. In melanoma cell lines, expression of miR-200 members does not suppress invasion but rather leads to a switch between modes of invasion. MicroRNA-200c results in a higher proportion of cells adopting the rounded, amoeboid-like mode of invasion, while miR-200a results in a protrusion-associated elongated mode of invasion. Functional target identification studies suggest that the morphological effects of miR-200c may be mediated by reduced expression of MARCKS, which has been linked to formation of cell protrusions. In contrast miR-200a reduces actomyosin contractility, a feature of rounded morphology.Significance
Overall our findings call into question the general role of miR-200 in suppressing invasion and metastasis, and highlight novel distinguishing characteristics of individual miR-200 family members. 相似文献11.
Hala Badr Khalil Sabrina C Brunetti Uyen Minh Pham Deborah Maret André Laroche Patrick J Gulick 《BMC genomics》2014,15(1)
Background
The caleosin genes encode proteins with a single conserved EF hand calcium-binding domain and comprise small gene families found in a wide range of plant species. Some members of the gene family have been shown to be upregulated by environmental stresses including low water availability and high salinity. Caleosin 3 from wheat has been shown to interact with the α-subunit of the heterotrimeric G proteins, and to act as a GTPase activating protein (GAP). This study characterizes the size and diversity of the gene family in wheat and related species and characterizes the differential tissue-specific expression of members of the gene family.Results
A total of 34 gene family members that belong to eleven paralogous groups of caleosins were identified in the hexaploid bread wheat, T. aestivum. Each group was represented by three homeologous copies of the gene located on corresponding homeologous chromosomes, except the caleosin 10, which has four gene copies. Ten gene family members were identified in diploid barley, Hordeum vulgare, and in rye, Secale cereale, seven in Brachypodium distachyon, and six in rice, Oryza sativa. The analysis of gene expression was assayed in triticale and rye by RNA-Seq analysis of 454 sequence sets and members of the gene family were found to have diverse patterns of gene expression in the different tissues that were sampled in rye and in triticale, the hybrid hexaploid species derived from wheat and rye. Expression of the gene family in wheat and barley was also previously determined by microarray analysis, and changes in expression during development and in response to environmental stresses are presented.Conclusions
The caleosin gene family had a greater degree of expansion in the Triticeae than in the other monocot species, Brachypodium and rice. The prior implication of one member of the gene family in the stress response and heterotrimeric G protein signaling, points to the potential importance of the caleosin gene family. The complexity of the family and differential expression in various tissues and under conditions of abiotic stress suggests the possibility that caleosin family members may play diverse roles in signaling and development that warrants further investigation.Electronic supplementary material
The online version of this article (doi:10.1186/1471-2164-15-239) contains supplementary material, which is available to authorized users. 相似文献12.
Hyun-Ja Jeong Sun-Young Nam Hyun-A Oh Na-Ra Han Young-Sick Kim Phil-Dong Moon Seung-Youp Shin Min-Ho Kim Hyung-Min Kim 《Arthritis research & therapy》2012,14(6):R259
Introduction
Interleukin (IL)-32 is an inflammatory cytokine induced by Mycobacterium tuberculosis and Mycobacterium bovis in a variety of cell types and discovered in the synovial of patients with rheumatoid arthritis (RA). Thymic stromal lymphopoietin (TSLP) play several roles in the pathogenesis of RA. However, the role of IL-32 and TSLP in RA has not been elucidated.Methods
We evaluated the specific mechanism of between IL-32 and TSLP in RA using human monocyte cell line, THP-1 cells.Results
Here we documented for the first time that IL-32 highly increased TSLP production in THP-1 cells and human blood monocytes. TSLP expression was induced by IL-32 via activation of caspase-1 and nuclear factor-κB. TSLP produced by IL-32 increased differentiation of monocytes but depletion of TSLP prevented differentiation of monocytes into macrophage-like cells. Chondroprotective drugs such as chondroitin sulfate (CS) and the traditional Korean medicine, BaekJeol-Tang (BT) decrease production of TSLP and activation of caspase-1 and nuclear factor-κB. In addition, CS and BT inhibited IL-32-induced monocytes differentiation.Conclusions
Taken together, IL-32 and TSLP are important cytokines involved in the development of RA. The effects of CS and BT were associated with the downregulation of TSLP and caspase-1 through negative regulation of IL-32 pathways in RA. 相似文献13.
Lloyd T Lam Haichao Zhang John Xue Joel D Leverson Anahita Bhathena 《Cancer cell international》2015,15(1)
Background
Evasion of apoptosis is a hallmark of cancer cells. One mechanism to deregulate the apoptotic pathway is by upregulation of the anti-apoptotic Bcl-2 family members. Navitoclax (ABT-263) is a Bcl-2/Bcl-xL inhibitor that restores the ability of cancer cells to undergo apoptosis.Methods
In this study we performed a high-throughput screen with 640 FDA-approved drugs to identify potential therapeutic combinations with navitoclax in a non-small cell lung cancer (NSCLC) cell line.Results
Other than a panel of cancer compounds such as doxorubicin, camptothecin, and docetaxel, four antihelminthic compounds (benzimidazoles) potentiated navitoclax activity. Treatment with benzimidazoles led to induction of the pro-apoptotic protein Noxa at the mRNA and protein level. Noxa binds and antagonizes antiapoptotic protein Mcl-1. siRNA-mediated knock-down of Noxa completely rescued benzimidazole-potentiated navitoclax activity. In addition, inhibiting caspase 3 and 9 partially rescued benzimidazole-potentiated navitoclax activity.Conclusions
We have identified compounds and mechanisms which potentiate navitoclax activity in lung cancer cell lines. Further validation of the benzimidazole-potentiated navitoclax effect in vivo is required to evaluate the potential for translating this observation into clinical benefit.Electronic supplementary material
The online version of this article (doi:10.1186/s12935-014-0151-3) contains supplementary material, which is available to authorized users. 相似文献14.
Yordem BK Conte SS Ma JF Yokosho K Vasques KA Gopalsamy SN Walker EL 《Annals of botany》2011,108(5):821-833
Background and Aims
Brachypodium distachyon is a temperate grass with a small stature, rapid life cycle and completely sequenced genome that has great promise as a model system to study grass-specific traits for crop improvement. Under iron (Fe)-deficient conditions, grasses synthesize and secrete Fe(III)-chelating agents called phytosiderophores (PS). In Zea mays, Yellow Stripe1 (ZmYS1) is the transporter responsible for the uptake of Fe(III)–PS complexes from the soil. Some members of the family of related proteins called Yellow Stripe-Like (YSL) have roles in internal Fe translocation of plants, while the function of other members remains uninvestigated. The aim of this study is to establish brachypodium as a model system to study Fe homeostasis in grasses, identify YSL proteins in brachypodium and maize, and analyse their expression profiles in brachypodium in response to Fe deficiency.Methods
The YSL family of proteins in brachypodium and maize were identified based on sequence similarity to ZmYS1. Expression patterns of the brachypodium YSL genes (BdYSL genes) were determined by quantitative RT–PCR under Fe-deficient and Fe-sufficient conditions. The types of PS secreted, and secretion pattern of PS in brachypodium were analysed by high-performance liquid chromatography.Key Results
Eighteen YSL family members in maize and 19 members in brachypodium were identified. Phylogenetic analysis revealed that some YSLs group into a grass-specific clade. The Fe status of the plant can regulate expression of brachypodium YSL genes in both shoots and roots. 3-Hydroxy-2′-deoxymugineic acid (HDMA) is the dominant type of PS secreted by brachypodium, and its secretion is diurnally regulated.Conclusions
PS secretion by brachypodium parallels that of related crop species such as barley and wheat. A single grass species-specific YSL clade is present, and expression of the BdYSL members of this clade could not be detected in shoots or roots, suggesting grass-specific functions in reproductive tissues. Finally, the Fe-responsive expression profiles of several YSLs suggest roles in Fe homeostasis. 相似文献15.
Objective
Although patients with anorexia nervosa (AN) present positive responses to family therapy, the key features of therapeutic changes still require identification. This study explores the role of conflictual communication and affiliative nonverbal behaviour in therapeutic change in brief strategic family therapy (BSFT) for AN patients.Methods
Ten female AN patients and their parents were included in the sample and took part in a 6-month follow-up of BSFT. The durations of conflictual communication and of affiliative nonverbal behaviour estimated by eye contact were compared between the first and the last sessions of family-based treatment using nonparametric statistical tests.Results
An increase of the Body Mass Index associated with an increase in the conflictual communication expressed during BSFT sessions were observed. Moreover, affiliative nonverbal behaviour expressed by the father and the patient decrease, after a BSFT follow-up, in conflictual situations only. By contrast, no significant difference was observed in affiliative nonverbal behaviour expressed by the mother.Conclusion
The present study demonstrates that the impact of the BSFT differs between members of a family: the AN patient and the father have established a new form of emotional functioning with a decrease in emotional involvement. The study of the combination between verbal and nonverbal communication can represent an important step in the understanding of the mechanisms of therapeutic change. 相似文献16.
Thomas B Suhadev M Mani J Ganapathy BG Armugam A Faizunnisha F Chelliah M Wares F 《PloS one》2011,6(11):e27752
Background
The negative influences of alcohol on TB management with regard to delays in seeking care as well as non compliance for treatment has been well documented. This study is part of a larger study on the prevalence of AUD (Alcohol Use Disorder) among TB patients which revealed that almost a quarter of TB patients who consumed alcohol could be classified as those who had AUD. However there is dearth of any effective alcohol intervention programme for TB patients with Alcohol Use Disorder (AUD).Methodology
This qualitative study using the ecological system model was done to gain insights into the perceived effect of alcohol use on TB treatment and perceived necessity of an intervention programme for TB patients with AUD. We used purposive sampling to select 44 men from 73 TB patients with an AUDIT score >8. Focus group discussions (FGDs) and interviews were conducted with TB patients with AUD, their family members and health providers.Results
TB patients with AUD report excessive alcohol intake as one of the reasons for their vulnerability for TB. Peer pressure has been reported by many as the main reason for alcohol consumption. The influences of alcohol use on TB treatment has been elaborated especially with regard to the fears around the adverse effects of alcohol on TB drugs and the fear of being reprimanded by health providers. The need for alcohol intervention programs was expressed by the TB patients, their families and health providers. Suggestions for the intervention programmes included individual and group sessions, involvement of family members, audiovisual aids and the importance of sensitization by health staff.Conclusions
The findings call for urgent need based interventions which need to be pilot tested with a randomized control trial to bring out a model intervention programme for TB patients with AUD. 相似文献17.
Objective
To investigate the effects of social isolation on oral mucosal healing in rats, and to determine if wound-associated genes and microRNAs (miRNAs) may contribute to this response.Methods
Rats were group housed or socially isolated for 4 weeks before a 3.5 mm wound was placed on the hard oral palate. Wound closure was assessed daily and tissues were collected for determination of gene expression levels and miRNAs (i.e., miR-29a,b,c and miR-203). The predicted target of these microRNAs (i.e., vascular endothelial growth factor A, VEGFA) was functionally validated.Results
Social isolation stress delayed the healing process of oral palatal mucosal wounds in rats. Lower mRNA levels of interleukin-1β (IL1β), macrophage inflammatory p r o t e i n-1α (MIP1α), fibroblast growth factor 7 (FGF7), and VEGFA were found in the biopsied tissues of isolated animals on days 1 and/or 3 post-wounding. Intriguingly, the isolated rats persistently exhibited higher levels of miR-29 family members and miR-203. Our results confirmed that VEGFA is a direct target of these miRNAs, as both miR-29a,c and miR-203 strongly and specifically suppressed endogenous VEGFA expression in vitro.Conclusions
This study in rats demonstrates for the first time that social isolation delays oral mucosal healing, and suggests a potential role for healing-associated gene and miRNA interactions during this process via modulation of VEGF expression. 相似文献18.
Jinsong Tang Yanhui Liao Ming Song Jia-Hong Gao Bing Zhou Changlian Tan Tieqiao Liu Yanqing Tang Jindong Chen Xiaogang Chen 《PloS one》2013,8(7)
Background
The default mode network (DMN) has been linked to a number of mental disorders including schizophrenia. However, the abnormal connectivity of DMN in early onset schizophrenia (EOS) has been rarely reported.Methods
Independent component analysis (ICA) was used to investigate functional connectivity (FC) of the DMN in 32 first-episode adolescents with EOS and 32 age and gender-matched healthy controls.Results
Compared to healthy controls, patients with EOS showed increased FC between the medial frontal gyrus and other areas of the DMN. Partial correlation analyses showed that the FC of medial frontal gyrus significantly correlated with PANSS-positive symptoms (partial correlation coefficient = 0.538, Bonferoni corrected P = 0.018).Limitations
Although the sample size of participants was comparable with most fMRI studies to date, it was still relatively small. Pediatric brains were registered to the MNI adult brain template. However, possible age-specific differences in spatial normalization that arise from registering pediatric brains to the MNI adult brain template may have little effect on fMRI results.Conclusion
This study provides evidence for functional abnormalities of DMN in first-episode EOS. These abnormalities could be a source of abnormal introspectively-oriented mental actives. 相似文献19.
Background
So far, many studies have investigated the distribution of CCR5 genotype between HIV-1 infected patients and uninfected people. However, no definite results have been put forward about whether heterozygosity for a 32-basepair deletion in CCR5 gene (CCR5-Δ32) can affect HIV-1 susceptibility.Methods
We performed a meta-analysis of 18 studies including more than 12000 subjects for whom the CCR5-Δ32 polymorphism was genotyped. Odds ratio (OR) with 95% confidence interval (CI) were employed to assess the association of CCR5-Δ32 polymorphism with HIV-1 susceptibility.Results
Compared with the wild-type CCR5 homozygotes, the pooled OR for CCR5-Δ32 heterozygotes was 1.02 (95%CI, 0.88–1.19) for healthy controls (HC) and 0.95 (95%CI, 0.71–1.26) for exposed uninfected (EU) controls. Similar results were found in stratified analysis by ethnicity, sample size and method of CCR5-Δ32 genotyping.Conclusions
The meta-analysis indicated that HIV-1 susceptibility is not significantly affected by heterozygosity for CCR5-Δ32. 相似文献20.