bluuebunny/crossref_metadata_2025 huggingface dataset:
C-terminal in Sp1-like artificial zinc-finger proteins plays crucial roles in determining their DNA binding affinity
Authors: Zhang Baozhen , Xiang Shengyan , Yin Yanru , Gu Liankun , Deng Dajun
Published: December 2013

Background

It is well known that the C-terminal zinc-finger-3 in transcription factor Sp1 contributes more than the N-terminal zinc-finger-1 in determining Sp1’s DNA binding capacity. Sp1-like artificial poly-zinc-finger proteins (ZFPs) are powerful biotechnological tools for gene-specific recognization and manipulation. It is important to understand whether the C-terminal fingers in the Sp1-like artificial ZFPs remain crucial for their DNA binding ability. Recently, a set of p16 promoter-specific seven-ZFPs (7ZFPs) has been constructed to reactivate the expression of methylation-silenced p16. These 7ZFPs contain one N-terminal three-zinc-finger domain of Sp1 (3ZF), two Sp1-like two-zinc-finger domains derived from the Sp1 finger-2 and finger-3 (2ZF) in the middle and C-terminal regions.

Results

In the present study, sets of variants for several representative 7ZFPs with the p16-binding affinity were further constructed. This was accomplished through finger replacements and key amino acid mutations in the N-terminal fingers, C-terminal fingers, and linker peptide, respectively. Their p16-binding activity was analysed using gel mobility shift assays. Results showed that the motif replacement or a key amino acid mutation (S > R) at position +2 of the α-helix in the C-terminal 2ZF domain completely abolished their p16-binding affinity. Deletion of three amino acids in a consensus linker (TGEKP > TG) between finger-7 and the 6 × Histidine-tag in the C-terminal also dramatically abolished their binding affinity. In contrast, the replacement of the finger-3 in the N-terminal 3ZF domain did not affect their binding affinity, but decreased their binding stability.

Conclusions

Altogether, the present study show that the C-terminal region may play crucial roles in determining the DNA binding affinity of Sp1-like artificial ZFPs.
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency
Authors: Breitfeld Jana , Martens Susanne , Klammt Jürgen , Schlicke Marina , Pfäffle Roland , Krause Kerstin , Weidle Kerstin , Schleinitz Dorit , Stumvoll Michael , Führer Dagmar , Kovacs Peter , Tönjes Anke
Published: December 2013

Background

The complex process of development of the pituitary gland is regulated by a number of signalling molecules and transcription factors. Mutations in these factors have been identified in rare cases of congenital hypopituitarism but for most subjects with combined pituitary hormone deficiency (CPHD) genetic causes are unknown. Bone morphogenetic proteins (BMPs) affect induction and growth of the pituitary primordium and thus represent plausible candidates for mutational screening of patients with CPHD.

Methods

We sequenced BMP2, 4 and 7 in 19 subjects with CPHD. For validation purposes, novel genetic variants were genotyped in 1046 healthy subjects. Additionally, potential functional relevance for most promising variants has been assessed by phylogenetic analyses and prediction of effects on protein structure.

Results

Sequencing revealed two novel variants and confirmed 30 previously known polymorphisms and mutations in BMP2, 4 and 7. Although phylogenetic analyses indicated that these variants map within strongly conserved gene regions, there was no direct support for their impact on protein structure when applying predictive bioinformatics tools.

Conclusions

A mutation in the BMP4 coding region resulting in an amino acid exchange (p.Arg300Pro) appeared most interesting among the identified variants. Further functional analyses are required to ultimately map the relevance of these novel variants in CPHD.
Assessing responsiveness of health care services within a health insurance scheme in Nigeria: users’ perspectives
Authors: Mohammed Shafiu , Bermejo Justo Lorenzo , Souares Aurélia , Sauerborn Rainer , Dong Hengjin
Published: December 2013

Background

Responsiveness of health care services in low and middle income countries has been given little attention. Despite being introduced over a decade ago in many developing countries, national health insurance schemes have yet to be evaluated in terms of responsiveness of health care services. Although this responsiveness has been evaluated in many developed countries, it has rarely been done in developing countries. The concept of responsiveness is multi-dimensional and can be measured across various domains including prompt attention, dignity, communication, autonomy, choice of provider, quality of facilities, confidentiality and access to family support. This study examines the insured users’ perspectives of their health care services’ responsiveness.

Methods

This retrospective, cross-sectional survey took place between October 2010 and March 2011. The study used a modified out-patient questionnaire from a responsiveness survey designed by the World Health Organization (WHO). Seven hundred and ninety six (796) enrolees, insured for more than one year in Kaduna State-Nigeria, were interviewed. Generalized ordered logistic regression was used to identify factors that influenced the users’ perspectives on responsiveness to health services and quantify their effects.

Results

Communication (55.4%), dignity (54.1%), and quality of facilities (52.0%) were rated as “extremely important” responsiveness domains. Users were particularly contented with quality of facilities (42.8%), dignity (42.3%), and choice of provider (40.7%). Enrolees indicated lower contentment on all other domains. Type of facility, gender, referral, duration of enrolment, educational status, income level, and type of marital status were most related with responsiveness domains.

Conclusions

Assessing the responsiveness of health care services within the NHIS is valuable in investigating the scheme’s implementation. The domains of autonomy, communication and prompt attention were identified as priority areas for action to improve this responsiveness. For the Nigerian context, we suggest that health care providers in the NHIS should pay attention to these domains, and the associated characteristics of users, when delivering health care services to their clients. Policy makers, and the insurance regulatory agency, should consider the reform strategies of monitoring and quality assurance which focus on the domains of responsiveness to lessen the gap between users’ expectations and their experiences with health services.
The changing burden of malaria and association with vector control interventions in Zambia using district-level surveillance data, 2006–2011
Authors: Kamuliwo Mulakwa , Chanda Emmanuel , Haque Ubydul , Mwanza-Ingwe Mercy , Sikaala Chadwick , Katebe-Sakala Cecilia , Mukonka Victor M , Norris Douglas E , Smith David L , Glass Gregory E , Moss William J
Published: December 2013

Background

Malaria control was strengthened in Zambia over the past decade. The two primary interventions for vector control are indoor residual spraying (IRS) and long-lasting insecticide-treated nets (LLINs). Using passive malaria surveillance data collected from 2006 to 2011 through the Zambian District Health Information System, the associations between increased coverage with LLINs and IRS and the burden of malaria in Zambia were evaluated.

Methods

National passive malaria surveillance data from 2006 to 2011 were analysed. A district-level, random-effects model with Poisson regression was used to explore the association between malaria cases and coverage with LLINs and IRS. Malaria cases and LLINs and IRS coverage were mapped to visualize spatiotemporal variation in malaria for each year.

Results

From 2006–2011, 24.6 million LLINs were distributed and 6.4 million houses were sprayed with insecticide. Coverage with LLINs was not uniformly distributed over the study period and IRS was targeted to central and southern districts where malaria transmission was low. LLIN coverage was associated with a reduction in malaria cases, although an increase in the number of malaria cases was reported in some districts over the study period. A high burden of malaria persisted in north-eastern Zambia, whereas a reduction in the number of reported malaria cases was observed in western and southern Zambia.

Conclusion

Enhanced and targeted interventions in north-eastern Zambia where the burden of malaria remains high, as well as efforts to sustain low malaria transmission in the south-west, will be necessary for Zambia to achieve the national goal of being malaria free by 2030.
Gene-environment interaction effects on lung function- a genome-wide association study within the Framingham heart study
Authors: Liao Shu-Yi , Lin Xihong , Christiani David C
Published: December 2013

Background

Previous studies in occupational exposure and lung function have focused only on the main effect of occupational exposure or genetics on lung function. Some disease-susceptible genes may be missed due to their low marginal effects, despite potential involvement in the disease process through interactions with the environment. Through comprehensive genome-wide gene-environment interaction studies, we can uncover these susceptibility genes. Our objective in this study was to explore gene by occupational exposure interaction effects on lung function using both the individual SNPs approach and the genetic network approach.

Methods

The study population comprised the Offspring Cohort and the Third Generation from the Framingham Heart Study. We used forced expiratory volume in one second (FEV1) and ratio of FEV1to forced vital capacity (FVC) as outcomes. Occupational exposures were classified using a population-specific job exposure matrix. We performed genome-wide gene-environment interaction analysis, using the Affymetrix 550 K mapping array for genotyping. A linear regression-based generalized estimating equation was applied to account for within-family relatedness. Network analysis was conducted using results from single-nucleotide polymorphism (SNP)-level analyses and from gene expression study results.

Results

There were 4,785 participants in total. SNP-level analysis and network analysis identified SNP rs9931086 (Pinteraction=1.16 × 10-7) in geneSLC38A8, which may significantly modify the effects of occupational exposure on FEV1. Genes identified from the network analysis includedCTLA-4, HDAC, andPPAR-alpha.

Conclusions

Our study implies that SNP rs9931086 inSLC38A8and genesCTLA-4,HDAC,andPPAR-alpha, which are related to inflammatory processes, may modify the effect of occupational exposure on lung function.
TGM3, a candidate tumor suppressor gene, contributes to human head and neck cancer
Authors: Wu Xiangbing , Cao Wei , Wang Xu , Zhang Jianjun , Lv Zhongjing , Qin Xing , Wu Yadi , Chen Wantao
Published: December 2013

Background

In our previous study using oligonucleotide microarrays, we revealed that transglutaminase 3 (TGM3) was remarkably down-regulated in head and neck cancer (HNC). However, the potential of TGM3 as a useful biomarker or molecular target for HNC is unclear.

Methods

The transcriptional and post-translational status of TGM3 in HNC cell lines and specimens was detected using real-time PCR and western blot analysis. Bisulfate-treated DNA sequencing was used to analyze the molecular mechanism of TGM3 gene silencing. In addition, the effects of TGM3 on the proliferation, colony formation and induction of apoptosis in vitro and tumorigenicity in vivo were investigated through exogenous expression of TGM3 in HNC cells. Immunohistochemistry was used to evaluate TGM3 expression in large HNC samples.

Results

TGM3 was down-regulated in HNC samples and cell lines (P < 0.0001). The hypermethylation of a promoter CpG island was one of the mechanisms of silencing the TGM3 gene in HNC. Exogenous expression of TGM3 in HNC cells could inhibit the proliferation and enhance the apoptosis of HNC cells in vitro and suppress tumor growth in vivo. In addition, TGM3 protein levels were strongly associated with the pathological differentiation of HNC tissues (P = 0.0037). Survival analysis revealed that low TGM3 expression was associated with worse overall survival (P = 0.0002), and TGM3 expression level was an independent predictor in patients with HNC.

Conclusions

The studies prove that TGM3, as a candidate tumor suppressor, contributes to the carcinogenesis and development of HNC and may serve as a useful biomarker for patients with HNC.
Friendship networks and physical activity and sedentary behavior among youth: a systematized review
Authors: Sawka Keri Jo , McCormack Gavin R , Nettel-Aguirre Alberto , Hawe Penelope , Doyle-Baker Patricia K
Published: December 2013

Background

Low levels of physical activity and increased participation in sedentary leisure-time activities are two important obesity-risk behaviors that impact the health of today’s youth. Friend’s health behaviors have been shown to influence individual health behaviors; however, current evidence on the specific role of friendship networks in relation to levels of physical activity and sedentary behavior is limited. The purpose of this review was to summarize evidence on friendship networks and both physical activity and sedentary behavior among children and adolescents.

Method

After a search of seven scientific databases and reference scans, a total of thirteen articles were eligible for inclusion. All assessed the association between friendship networks and physical activity, while three also assessed sedentary behavior.

Results

Overall, higher levels of physical activity among friends are associated with higher levels of physical activity of the individual. Longitudinal studies reveal that an individual’s level of physical activity changes to reflect his/her friends’ higher level of physical activity. Boys tend to be influenced by their friendship network to a greater extent than girls. There is mixed evidence surrounding a friend’s sedentary behavior and individual sedentary behavior.

Conclusion

Friends’ physical activity level appears to have a significant influence on individual’s physical activity level. Evidence surrounding sedentary behavior is limited and mixed. Results from this review could inform effective public health interventions that harness the influence of friends to increase physical activity levels among children and adolescents.
Antireflective grassy surface on glass substrates with self-masked dry etching
Authors: Song Young Min , Park Gyeong Cheol , Kang Eun Kyu , Yeo Chan Il , Lee Yong Tak
Published: December 2013

Although recently developed bio-inspired nanostructures exhibit superior optic performance, their practical applications are limited due to cost issues. We present highly transparent glasses with grassy surface fabricated with self-masked dry etch process. Simultaneously generated nanoclusters during reactive ion etch process with simple gas mixture (i.e., CF4/O2) enables lithography-free, one-step nanostructure fabrication. The resulting grassy surfaces, composed of tapered subwavelength structures, exhibit antireflective (AR) properties in 300 to 1,800-nm wavelength ranges as well as improved hydrophilicity for antifogging. Rigorous coupled-wave analysis calculation provides design guidelines for AR surface on glass substrates.
Fingerprint indoor positioning algorithm based on affinity propagation clustering
Authors: Tian Zengshan , Tang Xiaomou , Zhou Mu , Tan Zuohong
Published: December 2013

Recently, the fingerprint-based wireless local area network (WLAN) positioning has gained significant interest. A probability distribution-aided indoor positioning algorithm based on the affinity propagation clustering is proposed. Different from the conventional fingerprint-based WLAN positioning algorithms, the paper first utilizes the affinity propagation clustering to minimize the searching space of reference points (RPs). Then, we introduce the probability distribution-aided positioning algorithm to obtain the target's refined position. Furthermore, because the affinity clustering can effectively lead to a reduction of the computational cost for the RP searching which is involved in the probability distribution-aided positioning algorithm, the proposed algorithm can lower the difficulty and minimize the power consumption when estimating the user's position. Experimental results conducted in the real environments show that our proposed algorithm will significantly improve the performance of the probability distribution-aided positioning algorithm in both the positioning accuracy and real-time ability.
F-closed sets and coupled fixed point theorems without the mixed monotone property
Authors: Kutbi Marwan Amin , Roldán Antonio , Sintunavarat Wutiphol , Martínez-Moreno Juan , Roldán Concepción
Published: December 2013

In this paper we present the notion of F-closed set (which is weaker than the concept of F-invariant set introduced in Samet and Vetro (Ann. Funct. Anal. 1:46-56, 2010), and we prove some coupled fixed point theorems without the condition of mixed monotone property. Furthermore, we interpret the transitive property as a partial preorder and, then, some results in that paper and in Sintunavarat et al. (Fixed Point Theory Appl. 2012:170, 2012) can be reduced to the unidimensional case.

MSC:46T99, 47H10, 47H09, 54H25.
Relative resistance of HIV-1 founder viruses to control by interferon-alpha
Authors: Fenton-May Angharad E , Dibben Oliver , Emmerich Tanja , Ding Haitao , Pfafferott Katja , Aasa-Chapman Marlen M , Pellegrino Pierre , Williams Ian , Cohen Myron S , Gao Feng , Shaw George M , Hahn Beatrice H , Ochsenbauer Christina , Kappes John C , Borrow Persephone
Published: December 2013

Background

Following mucosal human immunodeficiency virus type 1 (HIV-1) transmission, type 1 interferons (IFNs) are rapidly induced at sites of initial virus replication in the mucosa and draining lymph nodes. However, the role played by IFN-stimulated antiviral activity in restricting HIV-1 replication during the initial stages of infection is not clear. We hypothesized that if type 1 IFNs exert selective pressure on HIV-1 replication in the earliest stages of infection, the founder viruses that succeed in establishing systemic infection would be more IFN-resistant than viruses replicating during chronic infection, when type 1 IFNs are produced at much lower levels. To address this hypothesis, the relative resistance of virus isolates derived from HIV-1-infected individuals during acute and chronic infection to control by type 1 IFNs was analysed.

Results

The replication of plasma virus isolates generated from subjects acutely infected with HIV-1 and molecularly cloned founder HIV-1 strains could be reduced but not fully suppressed by type 1 IFNsin vitro. The mean IC50value for IFNα2 (22 U/ml) was lower than that for IFNβ (346 U/ml), although at maximally-inhibitory concentrations both IFN subtypes inhibited virus replication to similar extents. Individual virus isolates exhibited differential susceptibility to inhibition by IFNα2 and IFNβ, likely reflecting variation in resistance to differentially up-regulated IFN-stimulated genes. Virus isolates from subjects acutely infected with HIV-1 were significantly more resistant toin vitrocontrol by IFNα than virus isolates generated from the same individuals during chronic, asymptomatic infection. Viral IFN resistance declined rapidly after the acute phase of infection: in five subjects, viruses derived from six-month consensus molecular clones were significantly more sensitive to the antiviral effects of IFNs than the corresponding founder viruses.

Conclusions

The establishment of systemic HIV-1 infection by relatively IFNα-resistant founder viruses lends strong support to the hypothesis that IFNα plays an important role in the control of HIV-1 replication during the earliest stages of infection, prior to systemic viral spread. These findings suggest that it may be possible to harness the antiviral activity of type 1 IFNs in prophylactic and potentially also therapeutic strategies to combat HIV-1 infection.
Surgical trials and trial registers: a cross-sectional study of randomized controlled trials published in journals requiring trial registration in the author instructions
Authors: Hardt Julia LS , Metzendorf Maria-Inti , Meerpohl Joerg J
Published: December 2013

Background

Trial registration and the reporting of trial results are essential to increase transparency in clinical research. Although both have been strongly promoted in recent years, it remains unclear whether they have been successfully implemented in surgery and surgery-related disciplines. In this cross-sectional study, we assessed whether randomized controlled trials (RCTs) published in surgery journals requiring trial registration in their author instructions were indeed registered, and whether the study results of registered RCTs had been submitted to the trial register and were thus publicly available.

Methods

The ten highest ranked surgery journals requiring trial registration by impact factor (Journal Citation Reports, JCR, 2011) were chosen. We then searched MEDLINE (in PubMed) for RCTs published in the selected journals between 1 June 2012 and 31 December 2012. Any trials recruiting participants before 2004 were excluded because the International Committee of Medical Journal Editors (ICMJE) first proposed trial registration in 2004. We then searched the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) to assess whether the identified RCTs were indeed registered and whether the results of the registered RCTs were available in the register.

Results

The search retrieved 588 citations. Four hundred and sixty references were excluded in the first screening. A further 25 were excluded after full-text screening. A total of 103 RCTs were finally included. Eighty-five of these RCTs (83%) could be found via the ICTRP. For 7 of 59 (12%) RCTs, which were registered on ClinicalTrials.gov, summary study data had been posted in the results database.

Conclusions

Although still not fully implemented, trial registration in surgery has gained momentum. In general, however, the submission of summary study data to ClinicalTrials.gov remains poor.
Protocol for the New Medicine Service Study: a randomized controlled trial and economic evaluation with qualitative appraisal comparing the effectiveness and cost effectiveness of the New Medicine Service in community pharmacies in England
Authors: Boyd Matthew , Waring Justin , Barber Nick , Mehta Rajnikant , Chuter Antony , Avery Anthony J , Salema Nde-Eshimuni , Davies James , Latif Asam , Tanajewski Lukasz , Elliott Rachel A
Published: December 2013

Background

Medication non-adherence is considered an important cause of morbidity and mortality in primary care. This study aims to determine the effectiveness, cost effectiveness and acceptability of a complex intervention delivered by community pharmacists, the New Medicine Service (NMS), compared with current practice in reducing non-adherence to, and problems with, newly prescribed medicines for chronic conditions.

Methods/design

Research subject group: patients aged 14 years and above presenting in a community pharmacy for a newly prescribed medicine for asthma/chronic obstructive pulmonary disease (COPD); hypertension; type 2 diabetes or anticoagulant/antiplatelet agents in two geographical regions in England.

Design: parallel group patient-level pragmatic randomized controlled trial.

Interventions: patients randomized to either: (i) current practice; or (ii) NMS intervention comprising pharmacist-delivered support for a newly prescribed medicine.

Primary outcomes: proportion of adherent patients at six, ten and 26 weeks from the date of presenting their prescriptions at the pharmacy; cost effectiveness of the intervention versus current practice at 10 weeks and 26 weeks; in-depth qualitative understanding of the operationalization of NMS in pharmacies.

Secondary outcomes: impact of NMS on: patients’ understanding of their medicines, pharmacovigilance, interprofessional and patient-professional relationships and experiences of service users and stakeholders.

Economic analysis: Trial-based economic analysis (cost per extra adherent patient) and long-term modeling of costs and health effects (cost per quality-adjusted-life-year) will be conducted from the perspective of National Health Service (NHS) England, comparing NMS with current practice.

Qualitative analysis: a qualitative study of NMS implementation in different community settings, how organizational influences affect NMS delivery, patterns of NMS consultations and experiences of professionals and patients participating in NMS, and patients receiving current practice.

Sample size: 250 patients in each treatment arm would provide at least 80% power (two-tailed alpha of 0.05) to demonstrate a reduction in patient-reported non-adherence from 20% to 10% in the NMS arm compared with current practice, assuming a 20% drop-out rate.

Discussion

At the time of submission of this article, 58 community pharmacies have been recruited and the interventions are being delivered. Analysis has not yet been undertaken.

Trial registration

Current controlled trials:ISRCTN23560818

Clinical Trials US (clinicaltrials.gov):NCT01635361
A cross-sectional study of public attitudes towards safer drug use practices in British Columbia, Canada
Authors: Tzemis Despina , Campbell Jennifer , Kuo Margot , Buxton Jane A
Published: December 2013

Background

Harm reduction programs are often vulnerable to political and vocal opposition despite documented evidence of their effectiveness and economic benefit. It is not well understood if opponents to harm reduction represent the general public’s attitudes.

Objective

To understand the attitudes of the people of British Columbia (BC) towards various harm reduction strategies and services, and factors associated with support for harm reduction.

Methods

A random-digit dialing telephone survey assessing attitudes towards various harm reduction strategies was administered to British Columbians in August 2011 (n = 2000). We compared the level of support for general harm reduction by sex, age, education level, and area of residence (Health Authority region) (χ2). Multivariate logistic regression was used to assess odds of support for harm reduction.

Results

Overall support for general harm reduction among participants was 76%; needle distribution 72%; needle distribution in one’s local community 65%; and safer inhalation equipment distribution 52%. In the multivariate analysis, those with significantly lower odds of supporting harm reduction were male, older, had equal or less than high school education or completed a certificate/diploma program, and resided in the Fraser Health Authority region. The Health Authority region with a municipality that has introduced a bylaw prohibiting the implementation of harm reduction services was found to have 69% support for harm reduction. Another Health Authority region with a municipality that closed a long-standing needle distribution site was found to have over 78% support.

Conclusion

In contrast to some local policies, our results show the British Columbians surveyed in our study support harm reduction. It is unclear whether policy makers are swayed by a vocal minority or block harm reduction activities for other reasons. Tailoring messages towards segments of the public less likely to support harm reduction, as well civic policy-makers and the media, may help to reduce stigma and gain support for harm reduction services designed to protect and improve the health of the individual and the public.
Does the revised cardiac risk index predict cardiac complications following elective lung resection?
Authors: Wotton Robin , Marshall Andrea , Kerr Amy , Bishay Ehab , Kalkat Maninder , Rajesh Pala , Steyn Richard , Naidu Babu
Published: December 2013

Background

Revised Cardiac Risk Index (RCRI) score and Thoracic Revised Cardiac Risk Index (ThRCRI) score were developed to predict the risks of postoperative major cardiac complications in generic surgical population and thoracic surgery respectively. This study aims to determine the accuracy of these scores in predicting the risk of developing cardiac complications including atrial arrhythmias after lung resection surgery in adults.

Methods

We studied 703 patients undergoing lung resection surgery in a tertiary thoracic surgery centre. Observed outcome measures of postoperative cardiac morbidity and mortality were compared against those predicted by risk.

Results

Postoperative major cardiac complications and supraventricular arrhythmias occurred in 4.8% of patients. Both index scores had poor discriminative ability for predicting postoperative cardiac complications with an area under receiver operating characteristic (ROC) curve of 0.59 (95% CI 0.51-0.67) for the RCRI score and 0.57 (95% CI 0.49-0.66) for the ThRCRI score.

Conclusions

In our cohort, RCRI and ThRCRI scores failed to accurately predict the risk of cardiac complications in patients undergoing elective resection of lung cancer. The British Thoracic Society (BTS) recommendation to seek a cardiology referral for all asymptomatic pre-operative lung resection patients with > 3 RCRI risk factors is thus unlikely to be of clinical benefit.
Double esophageal duplication cysts, with ectopic gastric mucosa: a case report
Authors: Zhang Zhefeng , Jin Feng , Wu Hao , Tan Shulian , Tian Zhuang , Cui Youbin
Published: December 2013

Esophageal duplication cyst (EDC) is a congenital malformation of the posterior primitive foregut, which mainly occurs in the thoracic esophagus. Here, we describe a 3-year-old Han Chinese boy afflicted with intermittent fever of acute onset and dry cough. Thoracic computed tomography revealed an 10 cm × 5.4 cm × 5.8 cm oval-shaped, cyst-like tumor located in the extrapleural space, extending along the right paravertebral gutter and compressing the trachea forward. An additional small-sized, oval-shaped cyst was identified in the posterior mediastinum, between the esophagus and the spinal column, at the T1 level. During open thoracotomy, under general anesthesia, an opaque, thick-walled, esophageal cyst was revealed not to be in communication with the esophageal lumen or the trachea. This cyst was subsequently resected in an en bloc manner. The small (1-cm) esophageal cyst was left untreated based on a “wait-and-see” policy. Histological analysis showed that the resected cyst was walled by hyperplastic, fibrous tissues and locally lined with gastric mucosa inherent glands. This finding was consistent with a diagnosis of EDC, with ectopic gastric mucosa. The respiratory tract symptoms resolved immediately after the operation. Computed tomography obtained at the 6-month follow-up showed that no disease, residual or recurrence, was present after the resection of the large-sized cyst, and the small-sized cyst remained unchanged in size.
Characteristics and management of congenital esophageal stenosis: findings from a multicenter study
Authors: Michaud Laurent , Coutenier Frédéric , Podevin Guillaume , Bonnard Arnaud , Becmeur François , Khen-Dunlop Naziha , Auber Frédéric , Maurel Aude , Gelas Thomas , Dassonville Martine , Borderon Corinne , Dabadie Alain , Weil Dominique , Piolat Christian , Breton Anne , Djeddi Djamal , Morali Alain , Bastiani Florence , Lamireau Thierry , Gottrand Frédéric
Published: December 2013

Background

Congenital esophageal stenosis (CES) is a rare condition frequently associated with esophageal atresia (EA). There are limited data from small series about the presentation, treatment, and outcomes of CES.

Methods

Medical records of all patients with CES included in the French Network on Esophageal Malformations and Congenital Diseases were reviewed retrospectively with regard to diagnosis, treatment, and outcome.

Results

Over 18 years, 61 patients (30 boys) had CES, and 29 (47%) of these patients also had EA. The mean age at diagnosis was 24 months (1 day to 14 years) and was younger in patients with CES and EA than in those with isolated CES (7 vs. 126 months, p < 0.05). Twenty-one of the 61 patients with CES had no clinical symptoms: in three patients, the findings were incidental, and in 18 of the 29 patients with associated EA, CES was diagnosed at the time of surgical repair of EA or during a postoperative systematic esophageal barium study. In the 40 other patients, at diagnosis, 50% presented with dysphasia, 40% with vomiting, 50% with food impaction, and 42% with respiratory symptoms. Diagnosis of CES was confirmed by esophageal barium study (56/61) and/or esophageal endoscopy (50/61). Sixteen patients had tracheobronchial remnants (TBR), 40 had fibromuscular stenosis (FMS), and five had membrane stenosis (MS). Thirty-four patients (56%) were treated by dilation only (13/34 remained asymptomatic at follow-up); 15 patients were treated by dilation but required later surgery because of failure (4/15 remained asymptomatic at follow-up); and nine patients had a primary surgical intervention (4/9 were asymptomatic at follow-up). Dilation was complicated by esophageal perforation in two patients (3.4%). At follow-up, dysphagia remained in 36% (21/58) of patients, but the incidence did not differ between the EA and the isolated CS groups (10/29 vs. 7/32, p = 0.27).

Conclusions

CS diagnosis can be delayed when associated with EA. Dilation may be effective for treating patients with FMS and MS, but surgical repair is often required for those with TBR. Our results show clearly that, regardless of the therapeutic option, dysphagia occurs frequently, and patients with CES should be followed over the long term.
Combined surgical and radiosurgical treatment for a symptomatic cervical metastasis in a case of malignant paraganglioma: a case report
Authors: Sasaki Ken , Inose Hiroyuki , Kawabata Shigenori , Yoshii Toshitaka , Kato Tsuyoshi , Saito Masanori , Okawa Atsushi
Published: December 2013

Background

Paragangliomas of the head and neck are rare tumors. Moreover, malignant paragangliomas of the cervical spine are extremely rare. Currently, the combination of curative surgical resection and secondary adjuvant radiotherapy is the gold standard for treating symptomatic malignant paragangliomas. However, traditional treatments for malignant paraganglioma remain unsuccessful. The purpose of this study is to report an exceedingly rare case involving cervical metastasis of a malignant paraganglioma.

Case presentation

In this case report, we present a case involving a 72-year-old male with a history of paraganglioma of the neck. He had been experiencing bilateral shoulder pain, neck pain and weakness in the upper extremities for more than six months. Magnetic resonance imaging of the cervical spine revealed a metastasis at C4 with severe vertebral body destruction. To avoid serious complications associated with surgical resection, CyberKnife® radiosurgery (Accuray, Inc., Sunnyvale, CA, USA) was performed on the parapharyngeal and cervical lesions. A secondary surgery, which involved a posterior laminectomy at C3-6 and posterior fusion at C1-T1, was performed two weeks after the radiosurgery. A histological examination of the surgical specimen demonstrated a malignant paraganglioma. The patient regained strength in all extremities in the postoperative field, and his pain was dramatically reduced. A magnetic resonance imaging study performed three months after the surgery showed a reduced tumor size and spinal cord decompression.

Conclusion

This case study is the first report of a patient with symptomatic cervical metastasis of a malignant paraganglioma treated with a combination of radiosurgery and posterior spinal surgery. Although the optimal treatment for these conditions remains unclear, concomitant treatment with radiosurgery and reconstructive surgery appeared to be both safe and effective in this challenging case.
Age-specific locomotor response to nicotine in yellow and mottled yellow Avy/a mice
Authors: Dingman Marc A , Gyekis Joseph P , Whetzel Courtney A , Klein Laura Cousino , Vandenbergh David J
Published: December 2013

Background

Most Agouti viable yellow (A

vy
) mice display constitutive expression of agouti protein, which acts as an inverse agonist at the melanocortin receptor 4 (Mc4r), resulting in adult-onset obesity as well as an altered sensitivity to some drugs of abuse. We investigated the influence of excessive agouti expression on open-field locomotor response to daily 0.5 mg/kg (-)-freebase nicotine injections in 27 early adolescent and 27 young adult male A

vy

/a and a/a mice, and assessed the effects of nicotine administration (0.5 mg/kg) followed by open-field testing on serum corticosterone levels in a separate group of 25 young adult male A

vy

/a and a/a mice.

Findings

Young adult A

vy

/a mice displayed pronounced nicotine-induced hypolocomotion (a 24% reduction in distance traveled) compared to their a/a littermates. Early adolescent A

vy

/a mice did not differ from their a/a littermates or saline-matched controls in locomotion following nicotine administration. Young adult A

vy

/a mice also displayed increased thigmotaxis (a 5% increase in time spent outside the center of the apparatus) on the first day of nicotine administration as compared to saline-matched controls, while a/a mice did not. An increase in serum corticosterone levels 20 minutes after nicotine injection in a separate group of young adult male mice (n = 25) was proportionally similar between A

vy

/a and a/a mice.

Conclusions

Overall, the results suggest an age- and epigenotype- or genotype-specific response to nicotine administration in young adult male A

vy

/a mice. It appears the A

vy

/a locomotor and thigmotaxic responses to acute nicotine administration are not mediated solely by hypothalamic-pituitary-adrenal (HPA) axis stimulation.
The inhibitory role of Mir-29 in growth of breast cancer cells
Authors: Wu Zhenglong , Huang Xiaona , Huang Xing , Zou Qiang , Guo Yujiang
Published: December 2013

Mir-29 microRNA families are involved in regulation of various types of cancers. Although Mir-29 was shown to play an inhibitory role in tumorigenesis, the role of Mir-29 in breast cancer still remains obscure. In this study, we showed that Mir-29a is the dominant isoform in its family in mammary cells and expression of Mir-29a was down-regulated in different types of breast cancers. Furthermore, over-expression of Mir-29a resulted in significant slower growth of breast cancer cells and caused higher percentage of cells at G0/G1 phase. Consistent with this over-expression data, knockdown of Mir-29a in normal mammary cells lead to higher cell growth rate, and higher percentage of cells entering S phase. We further found that Mir-29a negatively regulated expression of B-Myb, which is a transcription factor associated with tumorigenesis. The protein levels of Cyclin A2 and D1 are consistent with the protein level of B-Myb. Taken together, our data suggests Mir-29a plays an important role in inhibiting growth of breast cancer cells and arresting cells at G0/G1 phase. Our data also suggests that Mir-29a may suppress tumor growth through down-regulating B-Myb.
Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?
Authors: Amiet Claire , Gourfinkel-An Isabelle , Laurent Claudine , Bodeau Nicolas , Génin Bérengère , Leguern Eric , Tordjman Sylvie , Cohen David
Published: December 2013

Background

Autism spectrum disorders (ASD) and epilepsy frequently occur together. Prevalence rates are variable, and have been attributed to age, gender, comorbidity, subtype of pervasive developmental disorder (PDD) and risk factors. Recent studies have suggested disparate clinical and genetic settings depending on simplex or multiplex autism. The aim of this study was to assess: 1) the prevalence of epilepsy in multiplex autism and its association with genetic and non-genetic risk factors of major effect, intellectual disability and gender; and 2) whether autism and epilepsy cosegregate within multiplex autism families.

Methods

We extracted from the Autism Genetic Resource Exchange (AGRE) database (n = 3,818 children from 1,264 families) all families with relevant medical data (n = 664 children from 290 families). The sample included 478 children with ASD and 186 siblings without ASD. We analyzed the following variables: seizures, genetic and non-genetic risk factors, gender, and cognitive functioning as assessed by Raven’s Colored Progressive Matrices (RCPM) and Vineland Adaptive Behavior Scales (VABS).

Results

The prevalence of epilepsy was 12.8% in cases with ASD and 2.2% in siblings without ASD (P <10-5). With each RCPM or VABS measure, the risk of epilepsy in multiplex autism was significantly associated with intellectual disability, but not with gender. Identified risk factors (genetic or non-genetic) of autism tended to be significantly associated with epilepsy (P = 0.052). When children with prematurity, pre- or perinatal insult, or cerebral palsy were excluded, a genetic risk factor was reported for 6/59 (10.2%) of children with epilepsy and 12/395 (3.0%) of children without epilepsy (P = 0.002). Finally, using a permutation test, there was significant evidence that the epilepsy phenotype co-segregated within families (P <10-4).

Conclusions

Epilepsy in multiplex autism may define a different subgroup in terms of clinical characteristics and genetic risk.
Participation and performance trends of East-African runners in Swiss half-marathons and marathons held between 2000 and 2010
Authors: Cribari Marco , Rüst Christoph A , Rosemann Thomas , Onywera Vincent , Lepers Romuald , Knechtle Beat
Published: December 2013

Background

This study examined the changes in participation, performance and age of East African runners competing in half-marathons and marathons held in Switzerland between 2000 and 2010.

Methods

Race times, sex, age and origin of East African versus Non-African finishers of half-marathon and marathon finishers were analyzed.

Results

Across time, the number of Kenyan and Ethiopian finishers remained stable (P > 0.05) while the number of Non-African finishers increased for both women and men in both half-marathons and marathons (P < 0.05). In half-marathons, the top ten African women (71 ± 1.4 min) and top three (62.3 ± 0.6 min) and top ten (62.8 ± 0.4 min) African men were faster than their Non-African counterparts (P < 0.05). In marathons, however, there was no difference in race times between the top three African men (130.0 ± 0.0 min) and women (151.7 ± 2.5 min) compared to Non-African men (129.0 ± 1.0 min) and women (150.7 ± 1.2 min) (P > 0.05). In half-marathons and marathons was no difference in age between the best Non-African and the best African runners (P > 0.05).

Conclusions

During the last decade in Switzerland, the participation of Kenyan and Ethiopian runners in half- and full- marathons remained stable. In marathons there was no difference in age and performance between the top African and the top Non-African runners. Regarding half-marathons, the top African runners were faster but not younger than the top Non-African runners. Future insight should be gained by comparing the present results with participation, performance and age trends for East African runners competing in marathons held in larger countries.
Results of a clinical practice algorithm for the management of thoracostomy tubes placed for traumatic mechanism
Authors: Martin Mersadies , Schall Cory T , Anderson Cheryl , Kopari Nicole , Davis Alan T , Stevens Penny , Haan Pam , Kepros John P , Mosher Benjamin D
Published: December 2013

Introduction

The management and removal of thoracostomy tubes for trauma-related hemothorax and pneumothorax is controversial. General recommendations exist; however, institutional data related to an algorithmic approach has not been well described. The difficulty in establishing an algorithm centers about individualized patients’ needs for subsequent management after thoracostomy tube placement. In our institution, we use the same protocol for all trauma patients who receive a thoracostomy tube with minimal complications.

Purpose

To present the clinical outcomes of patients who required a tube thoracostomy for traumatic injury and were managed by an institutional protocol.

Methods

A retrospective chart review of 313 trauma patients at a single level I trauma institution from January 2008 through June 2012 was conducted. Inclusion criteria were patient age ≥ 18 years, involvement in a trauma, and requirement of a thoracostomy tube. The patients’ charts were reviewed for demographic data, injury severity score (ISS), length of stay (LOS), and chest-tube specific data. Thoracostomy tube complications were defined as persistent air leak, persistent pneumothorax, recurrent pneumothorax, and clotting of thoracostomy tube. The patients were managed per our institutional algorithm. Descriptive statistics were performed.

Results

Most of the patients who required a thoracostomy tube had blunt-related traumas (271/313; 86.6%), while 42 patients (13.4%) sustained penetrating injuries. There were 215 (68.7%) male patients. The average age at time of injury was 45.7 ± 21.1 years and the mean ISS was 24.9 ± 15.9 (mean ± SD). Elevated alcohol levels were found in 65 of the 247 patients who were tested upon admission (26.3%). Overall, 15 patients (4.8%) developed a thoracostomy tube related complication: persistent air leak in six patients, persistent pneumothorax in six patients, recurrent pneumothorax in two patients, and clotted thoracostomy tube in one patient. The average LOS was 10.4 ± 8.4 days, and the mean length of thoracostomy tube placement was 5.9 ± 4.3 days.

Conclusions

Our algorithmic thoracostomy tube management protocol resulted in a complication rate of 4.8%. By managing thoracostomy tubes in a systematic manner, our patients have improved outcomes following placement and removal compared to other studies.
The effects of course length on freestyle swimming speed in elite female and male swimmers – a comparison of swimmers at national and international level
Authors: Wolfrum Mathias , Knechtle Beat , Rüst Christoph Alexander , Rosemann Thomas , Lepers Romuald
Published: December 2013

Freestyle swimming performance over 50 m, 100 m, 200 m, 400 m, 800 m and 1,500 m was compared on short (25 m) and long (50 m) course for 92,196 national swimmers (i.e. annual high score list Switzerland) and 1,104 international swimmers (i.e. finalists FINA World Championships) from 2000 to 2012. National and international swimmers of both sexes were on average 2.0 ± 0.6% faster on short than on long course. Sex-related differences in swimming speed were greater on short than on long course for international and national swimmers from 50 m to 800 m. Freestyle swimming performance improved across years for international swimmers in both short- and long-course whereas only male national swimmers were able to improve on short and long course events except for short course events on 800 m and 1,500 m. Performance in national women competing in short and long course events showed only improvements on 50 m, 100 m and 1,500 m across years. The sex-related differences in freestyle swimming performance showed no change for international swimmers. For national swimmers, the sex-related differences in freestyle swimming performance increased over time in long course from 50 m to 800 m, but decreased for 1,500 m. In conclusion, elite female and male freestyle swimmers at national and international level were about 2% faster on 25 m compared to 50 m course. During the 2000–2012 period, international as well as national swimmers (i.e. for national level predominantly men) improved freestyle swimming performance in both long and short course. More vigorous and optimized training programs focused on muscular force production in combination with efficient swimming skills might close the performance gap between elite swimmers at national level and FINA finalists. Further research especially including effects of anthropometric, biomechanical, and physiological factors is required to fully understand the effects of course length on freestyle swimming performance, and to determine whether course length has similar effects on other swim styles.