bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis for haemophilia: the Thai experience
Authors: Chuansumrit A. , Sasanakul W. , Promsonthi P. , Sirachainan N. , Panburana P. , Kadegasem P. , Wongwerawattanakoon P. 
Published: June 2016

BackgroundHaemophilia is a lifelong X‐linked recessive inherited bleeding disorder. Since the haemophilia management in economically less‐developed countries is inadequately provided, prevention of new cases of haemophilia is essentially required.Subjects and methodsA total of 42 pregnancies in 37 women at risk for severe and moderate haemophilia (A = 33, B = 4) were enrolled. The prenatal diagnostic (PND) procedure was performed in 32 women, while 10 women refused further PND procedure after knowing their foetuses were female (n = 8) and male (n = 2). The foetal specimen was obtained through chorionic villus sampling (n = 14), amniocentesis (n = 1) and cordocentesis (n = 17). The status of haemophilia was determined using informative RFLP markers and inversion of intron 22 of the F8 gene, and/or foetal FVIII:C or FIX:C.ResultsThe final diagnosis revealed normal males (n = 18), haemophilia A males (n = 9), normal females (n = 3) and haemophilia A carrier females (n = 2). All women with affected haemophilia sons requested to terminate their pregnancies except one woman. One of 32 pregnancies (3.1%) had spontaneous abortion. At follow‐up after birth, the PND was accurately confirmed in one haemophilia A male, three normal females and two carrier females by laboratory testing, and 18 unaffected normal males by history taking of no bleeding manifestations. However, 10 women who continued their pregnancies after knowing foetal sex turned out to have two haemophilia A males, one normal female, one haemophilia A carrier female and six normal or carrier females.ConclusionThe PND of haemophilia could be accurately determined but it was not well accepted by all couples at risk.
Adherence to prophylactic treatment in patients with haemophilia in Germany
Authors: Miesbach W. , Kalnins W. 
Published: June 2016

IntroductionAdherence to prophylactic treatment in haemophilia is important for patient outcome.AimThis study analysed the influence of potential impact factors on adherence assessed through the application of the German translation of the VERITAS‐Pro questionnaire.MethodsAll members of the German haemophilia patient organisation (DHG) who suffer from severe or moderate haemophilia and are on continuous prophylactic treatment were asked to complete the VERITAS‐Pro questionnaire. Further questions were added regarding the patients’ age, severity of haemophilia, type A or B, frequency of prophylaxis, pain level, factor application self or non‐self and co‐morbidities.ResultsResponses of 397 patients on continuous prophylactic treatment, 0–80 years old, were analysed according to several age groups: 0–14, 15–19, 20–59 (20–29 and 30–39) and ≥60 years of age. The mean total VERITAS‐Pro score for the whole sample was 36.7 ± 11.7 (range of 24–86). The scores were significantly higher, indicating the poorest adherence, in patients between 20 and 59 years of age (41.1 ± 11.7) compared with the other age groups (30.0–35.7). Adherence to treatment was highest in patients between 0 and 14 years of age in all subscales of the VERITAS‐Pro. The following potential risk factors for non‐adherence were evaluated in all age groups: organisation suffering (care by a haemophilia centre), severity and type of haemophilia, factor concentrate administration and the presence of co‐morbidities.ConclusionThe identification of significant differences between age groups in special subscales of adherence and impact factors offers tailored starting points for improvements of adherence to prophylactic treatment.
A systematic review and meta‐analysis of the relative efficacy and safety of treatment regimens for HIV‐associated cerebral toxoplasmosis: is trimethoprim‐sulfamethoxazole a real option?
Authors: Hernandez AV , Thota P , Pellegrino D , Pasupuleti V , Benites‐Zapata VA , Deshpande A , Penalva de Oliveira AC , Vidal JE 
Published: June 2016

ObjectivesThe objective of this study was to perform a systematic review and meta‐analysis of the literature to evaluate the efficacy and safety of therapies for cerebral toxoplasmosis in HIV‐infected adults. The pyrimethamine plus sulfadiazine (P‐S) combination is considered the mainstay therapy for cerebral toxoplasmosis and pyrimethamine plus clindamycin (P‐C) is the most common alternative treatment. Although trimethoprim‐sulfamethoxazole (TMP‐SMX) has potential advantages, its use is infrequent.MethodsWe searched PubMed and four other databases to identify randomized controlled trials (RCTs) and cohort studies. Two independent reviewers searched the databases, identified studies and extracted data. Risk ratios (RRs) were pooled across studies using random‐effects models.ResultsNine studies were included (five RCTs, three retrospective cohort studies and one prospective cohort study). In comparison to P‐S, treatment with P‐C or TMP‐SMX was associated with similar rates of partial or complete clinical response [P‐C: RR 0.87; 95% confidence interval (CI) 0.70–1.08; TMP‐SMX: RR 0.97; 95% CI 0.78–1.21], radiological response (P‐C: RR 0.92; 95% CI 0.82–1.03), skin rash (P‐C: RR 0.81; 95% CI 0.56–1.17; TMP‐SMX: RR 0.17; 95% CI 0.02–1.29), gastrointestinal impairment (P‐C: RR 5.16; 95% CI 0.66–40.11), and drug discontinuation because of adverse events (P‐C: RR 0.32; 95% CI 0.07–1.47). Liver impairment was more frequent with P‐S than P‐C (P‐C vs. P‐S: RR 0.48; 95% CI 0.24–0.97).ConclusionsThe current evidence fails to identify a superior regimen in terms of relative efficacy or safety for the treatment of HIV‐associated cerebral toxoplasmosis. Use of TMP‐SMX as preferred treatment may be consistent with the available evidence and other real‐world considerations. Larger comparative studies are needed.
Immune recognition of citrullinated epitopes
Authors: Nguyen Hai , James Eddie A. 
Published: June 2016

SummaryConversion of arginine into citrulline is a post‐translational modification that is observed in normal physiological processes. However, abnormal citrullination can provoke autoimmunity by generating altered self‐epitopes that are specifically targeted by autoantibodies and T cells. In this review we discuss the recognition of citrullinated antigens in human autoimmune diseases and the role that this modification plays in increasing antigenic diversity and circumventing tolerance mechanisms. Early published work demonstrated that citrullinated proteins are specifically targeted by autoantibodies in rheumatoid arthritis and that citrullinated peptides are more readily presented to T cells by arthritis‐susceptible HLA class II ‘shared epitope’ proteins. Emerging data support the relevance of citrullinated epitopes in other autoimmune diseases, including type 1 diabetes and multiple sclerosis, whose susceptible HLA haplotypes also preferentially present citrullinated peptides. In these settings, autoimmune patients have been shown to have elevated responses to citrullinated epitopes derived from tissue‐specific antigens. Contrasting evidence implicates autophagy or perforin and complement‐mediated membrane attack as inducers of ectopic citrullination. In either case, the peptidyl deiminases responsible for citrullination are activated in response to inflammation or insult, providing a mechanistic link between this post‐translational modification and interactions with the environment and infection. As such, it is likely that immune recognition of citrullinated epitopes also plays a role in pathogen clearance. Indeed, our recent data suggest that responses to citrullinated peptides facilitate recognition of novel influenza strains. Therefore, increased understanding of responses to citrullinated epitopes may provide important insights about the initiation of autoimmunity and recognition of heterologous viruses.
Combining machine learning and matching techniques to improve causal inference in program evaluation
Authors: Linden Ariel , Yarnold Paul R 
Published: June 2016

AbstractRationale, aims and objectivesProgram evaluations often utilize various matching approaches to emulate the randomization process for group assignment in experimental studies. Typically, the matching strategy is implemented, and then covariate balance is assessed before estimating treatment effects. This paper introduces a novel analytic framework utilizing a machine learning algorithm called optimal discriminant analysis (ODA) for assessing covariate balance and estimating treatment effects, once the matching strategy has been implemented. This framework holds several key advantages over the conventional approach: application to any variable metric and number of groups; insensitivity to skewed data or outliers; and use of accuracy measures applicable to all prognostic analyses. Moreover, ODA accepts analytic weights, thereby extending the methodology to any study design where weights are used for covariate adjustment or more precise (differential) outcome measurement.MethodOne‐to‐one matching on the propensity score was used as the matching strategy. Covariate balance was assessed using standardized difference in means (conventional approach) and measures of classification accuracy (ODA). Treatment effects were estimated using ordinary least squares regression and ODA.ResultsUsing empirical data, ODA produced results highly consistent with those obtained via the conventional methodology for assessing covariate balance and estimating treatment effects.ConclusionsWhen ODA is combined with matching techniques within a treatment effects framework, the results are consistent with conventional approaches. However, given that it provides additional dimensions and robustness to the analysis versus what can currently be achieved using conventional approaches, ODA offers an appealing alternative.
Etiology of Syncope and Unexplained Falls in Elderly Adults with Dementia: Syncope and Dementia (SYD) Study
Authors: Ungar Andrea , Mussi Chiara , Ceccofiglio Alice , Bellelli Giuseppe , Nicosia Franco , Bo Mario , Riccio Daniela , Martone Anna Maria , Guadagno Livia , Noro Gabriele , Ghidoni Giulia , Rafanelli Martina , Marchionni Niccolò , Abete Pasquale 
Published: June 2016

ObjectivesTo investigate the etiology of transient loss of consciousness (T‐LOC) suspected to be syncope and unexplained falls in elderly adults with dementia.DesignProspective, observational, multicenter study.SettingAcute care wards, syncope units or centers for the diagnosis of dementia.ParticipantsIndividuals aged 65 and older with a diagnosis of dementia and one or more episodes of T‐LOC of a suspected syncopal nature or unexplained falls during the previous 3 months were enrolled.MeasurementsThe causes of T‐LOC suspected to be syncope and unexplained falls were evaluated using a simplified protocol based on European Society of Cardiology guidelines.ResultsOf 357 individuals enrolled, 181 (50.7%) had been referred for T‐LOC suspected to be syncope, 166 (46.5%) for unexplained falls, and 10 (2.8%) for both. An initially suspected diagnosis of syncope was confirmed in 158 (87.3%), and syncope was identified as the cause of the event in 75 (45.2%) of those referred for unexplained falls. Orthostatic hypotension was the cause of the event in 117 of 242 (48.3%) participants with a final diagnosis of syncope.ConclusionThe simplified syncope diagnostic protocol can be used in elderly people with dementia referred for suspected syncope or unexplained falls. Unexplained falls may mask a diagnosis of syncope or pseudosyncope in almost 50% of cases. Given the high prevalence of orthostatic syncope in participants (~50%), a systematic reappraisal of drugs potentially responsible for orthostatic hypotension is warranted.
Antileukotriene Agents Versus Long‐Acting Beta‐Agonists in Older Adults with Persistent Asthma: A Comparison of Add‐On Therapies
Authors: Altawalbeh Shoroq M. , Thorpe Carolyn T. , Zgibor Janice C. , Kane‐Gill Sandra , Kang Yihuang , Thorpe Joshua M. 
Published: June 2016

ObjectivesTo compare the effectiveness and cardiovascular safety of long‐acting beta‐agonists (LABAs) with those of leukotriene receptor antagonists (LTRAs) as add‐on treatments in older adults with asthma already taking inhaled corticosteroids (ICSs).DesignRetrospective cohort study.SettingMedicare fee‐for‐service (FFS) claims (2009–10) for a 10% random sample of beneficiaries continuously enrolled in Parts A, B, and D in 2009.ParticipantsMedicare beneficiaries aged 66 and older continuously enrolled in FFS Medicare with Part D coverage with a diagnosis of asthma before 2009 treated exclusively with ICSs plus LABAs or ICSs plus LTRAs (N = 14,702).MeasurementsThe augmented inverse propensity‐weighted estimator was used to compare the effect of LABA add‐on therapy with that of LTRA add‐on therapy on asthma exacerbations requiring inpatient, emergency, or outpatient care and on cardiovascular (CV) events, adjusting for demographic characteristics, comorbidities, and county‐level healthcare‐access variables.ResultsThe primary analysis showed that LTRA add‐on treatment was associated with greater odds of asthma‐related hospitalizations or emergency department visits (odds ratio (OR) = 1.4, P < .001), as well as outpatient exacerbations requiring oral corticosteroids or antibiotics (OR = 1.41, P < .001) than LABA treatment. LTRA add‐on therapy was also less effective in controlling acute symptoms, as indicated by greater use of short‐acting beta agonists (rate ratio = 1.58, P < .001). LTRA add‐on treatment was associated with lower odds of experiencing a CV event than LABA treatment (OR = 0.86, P = .006).ConclusionThis study provides new evidence specific to older adults to help healthcare providers weigh the risks and benefits of these add‐on treatments. Further subgroup analysis is needed to personalize asthma treatments in this high‐risk population.
Abused women's vulnerability in daily life and in contact with psychiatric care: In the light of a caring science perspective
Authors: Örmon Karin , Hörberg Ulrica 
Published: June 2016

Aims and objectivesThe aim of the study is to deepen the understanding of abused women's vulnerability in relation to how the abuse and encounters with health care professionals affect life. A further aim is to highlight abused women's vulnerability with a caring science perspective.BackgroundExperience of abuse has consequences for the mental health of women and girls. Abused women may experience health care as unsupportive, and as a result, often chose not to disclose their experiences of abuse.Design and methodsThe results of two qualitative empirical studies were analysed along with a phenomenological meaning analysis in accordance with the methodological principles of Reflective Lifeworld Research.FindingsLiving one's life with experiences of abuse implies vulnerability, which can prevent abused women from achieving good health. This vulnerability results from insecurity regarding identity, along with the sense that one could have been a different individual if it were not for the abuse and thereby have a more fair chance in life. Being cared for within general psychiatric care could further increase this vulnerability. The healthcare professional's ability to care for the women who have experienced abuse leads to either an encounter of trust or else further suffering for the women.ConclusionA lifeworld‐oriented caring science perspective as a foundation for care can contribute to care for abused women which reaches the existential dimensions of their vulnerability and vulnerable life situation.Relevance to clinical practiceIt is evident that healthcare professionals should deepen their understanding of how abused women live, within a general psychiatric context. This study enables a deeper understanding of abused women's vulnerability in relation to how the abuse and encounters with healthcare professionals affect life.
Parents' experiences of managing their child's postoperative pain at home: an exploratory qualitative study
Authors: Longard Julie , Twycross Alison , Williams Anna M. , Hong Paul , Chorney Jill 
Published: June 2016

Aims and objectivesTo understand parents' experiences of managing their child's postoperative pain at home.BackgroundRecent changes in children's health care services often shift the responsibility of managing children's postoperative pain to parents. Although pain management is important for good postoperative outcomes, it can be a challenging task for families, and children's pain is often under‐managed.DesignThis qualitative study used semi‐structured interviews to explore parents' experiences of managing their child's postoperative pain at home.MethodsParticipants were parents of 10 typically developing 5‐ and 6‐year olds, who underwent (adeno)tonsillectomy, and experienced no complications leading to hospitalisation in the postoperative period. One‐on‐one interviews were conducted with parents within three months of their child's surgery. Interviews were transcribed verbatim and content analysis was used to identify themes in parents' experiences.ResultsAll children experienced some postoperative pain. Parents' experiences of managing their child's pain were impacted by balancing the pros and cons of administering analgesic medications, managing the emotional and psychological effects of their child's pain, as well as parents' information needs.ConclusionsMost parents' information needs were met yet they still struggled to manage their child's pain. These findings provide insight into some of the barriers that make this process challenging for many families, and what health care centres can do to help support parents manage their child's postoperative pain at home.Relevance to clinical practiceThe results of this study may aid in the design of interventions that will support parents when managing their child's postoperative pain at home and thus improve children's experiences.
The attitudes of the undergraduate nursing students towards lesbian women and gay men
Authors: Unlu Hayriye , Beduk Tülin , Duyan Veli 
Published: June 2016

Aims and objectivesThis study was conducted to determine the attitudes of undergraduate nursing students towards lesbian women and gay men.BackgroundNursing education in Turkey is conducted holistically; in other words, it is an integration of the physical, spiritual, mental and social realms. Students are therefore expected to not express any discrimination due to factors such as religion, language, race and gender. However, some serious problems still exist in terms of the practical applications of that philosophy.DesignThis study was descriptive.MethodsThis study included 964 students. The Attitudes towards Lesbian Women and Gay Men scale and a questionnaire were used to learn about the attitudes of undergraduate nursing students regarding gay men and lesbian women.ResultsResults of this study have indicated that the attitudes of religiously educated and/or conservative students towards lesbian women and gay men were negative. Female students from families with high incomes and highly educated families attended social activities and read more than other female students. The students with free life choice options expressed very positive attitudes towards gay men.ConclusionThe nursing education curriculum should cover information about patients with diverse sexual orientations and their absolute rights for equally optimal healthcare. Strategies to discourage traditional gender role stereotypes and educational and media experiences for better acceptance of sexual minorities need to be developed by educational policy makers. Antidiscrimination policies protecting lesbian women and gay men should be developed by the legislative authorities and then taught to students during their nursing education. Getting familiar with diverse sexual orientations might create awareness among nursing students and reduce their attitudinal and behavioural prejudices and biases.Relevance to clinical practiceTo provide equal healthcare services for all patients, nurses must have accurate information about lesbian women, gay men and modify their attitude and behaviour accordingly.
Targeting leiomyomas with all‐trans‐retinoic acid at phosphoinositide 3‐kinase pathway suppression: Effective roles of β‐catenin and of signaling interactions
Authors: Friedman Noa , Shushan Asher , Rojansky Nathan , Shveiky David , Levitzki Rubina , Chaouat Malka , Ben‐Bassat Hannah 
Published: June 2016

AbstractAimLeiomyomas, monoclonal tumors developed by the transformation of myometrium somatic stem cells, are a major health concern that can severely impair quality of life. Pathological alterations of signaling pathways have been recognized as a key feature in a variety of human diseases. Our objective was to analyze treatment with all‐trans‐retinoic acid (ATRA) by suppression of the phosphoinositide 3‐kinase (PI3K) pathway on growth, signaling pattern and interactions among PI3K/B‐cell lymphoma 2 (Bcl2)/retinol leiomyoma proteins.MethodsCultures of paired myometrium and leiomyoma cells from premenopausal women undergoing hysterectomy were collected. Western blot and analysis of variance were used for analysis.ResultsSignificant differences were detected between treatment with ATRA alone or with LY294002 (a PI3K growth suppressor) in response to treatment and among cell samples and cell numbers. Leiomyoma cells were less affected. Immunochemical analysis of signaling patterns demonstrated that treatments affected most of the examined protein levels differently. Significant differences between the cell type responses to treatment in pyruvate phosphate dikinase 1 (pPDK1), Bad and pβ‐catenin levels were identified. The pβ‐catenin level showed highly significant interaction between response to treatment and cell type.ConclusionsATRA treatment on PI3K pathway suppression significantly affected growth, signaling pattern and interactions among PI3K/Bcl2/retinol proteins involved in the growth, survival and apoptosis of leiomyomas. Interpretation of our results suggests that increasing knowledge of the role of signaling interplay in the pathogenesis of leiomyomas may present an opportunity to use specific signal transduction inhibitors for treating and preventing this disorder.
Effects of HMGA2 siRNA and doxorubicin dual delivery by chitosan nanoparticles on cytotoxicity and gene expression of HT-29 colorectal cancer cell line
Authors: Siahmansouri Homayoon , Somi Mohammad Hossein , Babaloo Zohreh , Baradaran Behzad , Jadidi-Niaragh Farhad , Atyabi Fatemeh , Mohammadi Hamed , Ahmadi Majid , Yousefi Mehdi 
Published: June 2016

Abstract

Objective
Over-expressions of HMGA2, vimentin and MMP-9 and downregulation of E-cadherin occur on colorectal cancer cells followed by a reduction in let-7 as a regulatory factor. In this study, we first used carboxymethyl dextran (CMD)–chitosan nanoparticles (ChNPs) platform to encapsulate HMGA2 siRNA and doxorubicin (DOX), and then, we evaluated the efficacy of the simultaneous delivery of siRNA/drug on viability and gene expression of HT-29 cell lines.

Methods
ChNPs characteristics were determined by a dynamic light scattering and zeta sizer. Morphology of loaded ChNPs was assessed by scanning electron microscopy, and Fourier transform infrared spectroscopy was used to confirm the conjugation of ChNP/siRNA/DOX/CMD. Cell viability and relative mRNA expression were evaluated by MTT assay and real-time PCR, respectively.

Key finding
The prepared ChNPs had high efficiency for siRNA and drug encapsulation (78% and 75%) and were stable against serum and heparin. ChNP/siRNA/DOX/CMD was more effective to induce tumour cell death and also could significantly reduce the expressions of HMGA2, vimentin as well as MMP-9 and increase E-cadherin expression.

Conclusion
In conclusion, our results revealed that dual delivery of a key gene siRNA and appropriate anticancer drug have great impact on the treatment of colorectal cancer.