bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients
Authors: Barbosa M , Lopes A , Mota C , Martins E , Oliveira J , Alves S , De Bonis P , do Céu Mota M , Dias C , Rodrigues‐Santos P , Fortuna AM , Quelhas D , Lacerda L , Bisceglia L , Cardoso ML 
Published: January 2011

Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, do Céu Mota M, Dias C, Rodrigues‐Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML. Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients.Cystinuria is a rare autosomal inherited disorder characterized by impaired transport of cystine and dibasic aminoacids in the proximal renal tubule. Classically, Cystinuria is classified as type I (silent heterozygotes) and non‐type I (heterozygotes with urinary hyperexcretion of cystine). Molecularly, Cystinuria is classified as type A (mutations on SLC3A1 gene) and type B (mutations on SLC7A9 gene). The goal of this study is to provide a comprehensive clinical, biochemical and molecular characterization of a cohort of 12 Portuguese patients affected with Cystinuria in order to provide insight into genotype–phenotype correlations. We describe seven type I and five non‐type I patients. Regarding the molecular classification, seven patients were type A and five were type B. In SLC3A1 gene, two large genomic rearrangements and 13 sequence variants, including four new variants c.611‐2A>C; c.1136+44G>A; c.1597T (p.Y533N); c.*70A>G, were found. One large genomic rearrangement was found in SLC7A9 gene as well as 24 sequence variants including 3 novel variants: c.216C>T (p.C72C), c.1119G>A (p.S373S) and c.*82C>T. In our cohort the most frequent pathogenic mutations were: large rearrangements (33.3% of mutant alleles) and a missense mutation c.1400T>C ( p.M467T) (11.1%). This report expands the spectrum of SLC3A1 and SLC7A9 mutations and provides guidance in the clinical implementation of molecular assays in routine genetic counseling of Portuguese patients affected with Cystinuria.
A meta‐analysis comparing laparoscopic partial versus Nissen fundoplication
Authors: Ma Shijie , Qian Bingbing , Shang Li , Shi Ruihua , Zhang Guoxin 
Published: January 2011

AbstractBackground:  For proven gastro‐oesophageal reflux disease, partial fundoplication is considered as effective as Nissen, but with fewer side effects. The aim of this meta‐analysis was to compare the effect of laparoscopic partial fundoplication (LPF) with laparoscopic Nissen fundoplication (LNF).Methods:  Extensive medical literature searches of the PubMed, Medline and Embase databases were performed up to April 2010 for all randomized clinical trials that compared LPF versus LNF. The effect variables analysed were the incidence of post‐operative dysphagia, heartburn, inability to belch, outcome or satisfaction and Visick score. Meta‐analyses were carried out using odds ratios (ORs) with 95% confidence interval.Results:  Thirteen randomized trials were considered suitable for the meta‐analysis. A total of 1374 patients underwent LPF or LNF. There was a significant reduction of the incidence of post‐operative dysphagia (OR = 0.44, P < 0.0001) and inability to belch (OR = 0.41, P < 0.005) for the LPF compared to that of the LNF group. Compared with LPF, LNF resulted in a significant reduction of the incidence of post‐operative heartburn (OR = 1.94, P < 0.01). The outcome or satisfaction of patients and Visick I and II scores were comparable between the two groups.Conclusion:  Both LPF and LNF are effective for the treatment of proven gastro‐oesophageal reflux disease. LPF enables a decreased post‐operative dysphagia and gas‐related side effects, while LNF is more successful in controlling reflux symptoms, particularly heartburn, than LPF. A balance should be found between anti‐reflux and side effects.
Experiences of working with induced abortion: focus group discussions with gynaecologists and midwives/nurses
Authors: Lindström Meta , Wulff Marianne , Dahlgren Lars , Lalos Ann 
Published: January 2011

Scand J Caring Sci; 2011; 25; 542–548

Experiences of working with induced abortion: focus group discussions with gynaecologists and midwives/nurses Background:  While there exists an extensive amount of research regarding the medical aspects of abortion, there is a great lack of studies investigating staff’s views and experiences of working in abortion services.Aims:  To elucidate gynaecologists’ and midwives’/nurses’ experiences, perceptions and interactions working in abortion services, their experiences of medical abortions and abortions performed at the woman’s home. An additional aim was to illustrate gynaecologists’, midwives’ and nurses’ visions of their future professional roles within the abortion services.Method:  Three focus group discussions within each profession were carried out in 1‐hour sessions with a total of 25 gynaecologists and 15 midwives/nurses from three different hospitals.Results:  The content analysis reflected that gynaecologists and midwives/nurses had no doubts about participating in abortions despite the fact that they had experienced complex and difficult situations, such as repeat and late‐term abortions. They experienced their work as paradoxical and frustrating but also as challenging and rewarding. However, they were rarely offered ongoing guidance and continuously professional development education. For gynaecologists, as well as midwives/nurses, their experiences and perceptions were strongly linked to the concurrent development of abortion methods. The interaction between the professions was found to be based on great trust in each other’s skills.Conclusions:  In order to promote women’s health, gynaecologists’ and midwives’/nurses’ need for a forum for reflection and ongoing guidance should be acted on. With a higher number of abortions done medically and a higher proportion of home abortions, midwives/nurses will get increased, responsibilities in the abortion services in the future.
G protein‐coupled oestrogen receptor 1 (GPER1)/GPR30: a new player in cardiovascular and metabolic oestrogenic signalling
Authors: Nilsson Bengt‐Olof , Olde Björn , Leeb‐Lundberg LM Fredrik 
Published: January 2011

Oestrogens are important sex hormones central to health and disease in both genders that have protective effects on the cardiovascular and metabolic systems. These hormones act in complex ways via both genomic and non‐genomic mechanisms. The genomic mechanisms are relatively well characterized, whereas the non‐genomic ones are only beginning to be explored. Two oestrogen receptors (ER), ERα and ERβ, have been described that act as nuclear transcription factors but can also associate with the plasma membrane and influence cytosolic signalling. ERα has been shown to mediate both anti‐atherogenic effects and pro‐survival effects in pancreatic β‐cells. In recent years, a third membrane‐bound ER has emerged, G protein‐coupled receptor 30 or G protein‐coupled oestrogen receptor 1 (GPER1), which mediates oestrogenic responses in cardiovascular and metabolic regulation. Both GPER1 knock‐out models and pharmacological agents are now available to study GPER1 function. These tools have revealed that GPER1 activation may have several beneficial effects in the cardiovascular system including vasorelaxation, inhibition of smooth muscle cell proliferation, and protection of the myocardium against ischaemia/reperfusion injury, and in the metabolic system including stimulation of insulin release and protection against pancreatic β‐cell apoptosis. Thus, GPER1 is emerging as a candidate therapeutic target in both cardiovascular and metabolic disease.LINKED ARTICLES This article is one of a set of reviews submitted to BJP in connection with talks given at the September 2010 meeting of the International Society of Hypertension in Vancouver, Canada. To view the other articles in this collection visit http://dx.doi.org/10.1111/j.1476‐5381.2010.01167.x, http://dx.doi.org/10.1111/j.1476‐5381.2011.01260.x and http://dx.doi.org/10.1111/j.1476‐5381.2011.01366.x
R2D2for C4Eo: an ‘alliance’ of PGD2receptors is required for LTC4production by human eosinophils
Authors: Mackay Graham A , Stewart Alastair G 
Published: January 2011

Eosinophils play important roles in limiting parasitic infection and in allergic inflammation in the asthmatic airways. Activation of eosinophils by diverse stimuli, including prostaglandin D2(PD2), leads to leukotriene C4(LTC4) synthesis that contributes to the expulsion of parasites and to epithelial injury in allergic inflammation. Mesquita‐Santoset al. in this issue of the journal describe a collaboration between the two PGD2receptors, DP1and DP2[also known as CRTH2 (chemoattractant receptor‐homologous molecule expressed on Th2 lymphocytes)] that is required to trigger LTC4synthesis. DP1receptors coupled to Gαsincrease adenylate cyclase activity and cAMP/ protein kinase A–dependent formation of lipid bodies, and DP2receptors coupled to Gαiincrease calcium. Each of these signals is required for LTC4production. These observations lead to consideration of the effects of other stimuli for eosinophil cAMP, such as the β2‐adrenoceptor agonists, which inhibit rather than enhance LTC4production.LINKED ARTICLEThis article is a commentary on Mesquita‐Santoset al., pp. 1674–1685 of this issue. To view this paper visithttp://dx.doi.org/10.1111/j.1476‐5381.2010.01086.x
Research in practice: IL‐22 and IL‐20: significance for epithelial homeostasis and psoriasis pathogenesis
Authors: Sabat Robert , Wolk Kerstin 
Published: January 2011

SummaryPsoriasis vulgaris is a frequent, chronically relapsing, immune‐mediated, systemic disease with characteristic skin changes. Despite the importance of this disease there are currently limited therapeutic options indicating a need for effective, long‐lasting treatment strategies with few side effects. The most recent discoveries regarding psoriasis pathogenesis, particularly our results regarding two cytokines – IL‐22 and IL‐20 – could prove to be the foundation for such therapies. Whereas IL‐22 is mainly produced by activated T‐cell sub‐populations (Th22, Th1, Th17), monocytes, dendritic cells and keratinocytes produce IL‐20. Blood and lesional skin samples from psoriasis patients demonstrate high levels of IL‐22 and IL‐20. Interestingly, both cytokines act principally on keratinocytes and do not impact the immune system. Similar to the changes in the psoriasis epidermis these cytokines inhibit the terminal differentiation of keratinocytes although they simultaneously increase their innate defense, mobility, and the production of some chemokines. Some IL‐22 effects are amplified by TNF‐α, IL‐17, and IFN‐α. IL‐22/IL‐20 lends the reconstructed epidermis a psoriasis‐like appearance with acanthosis, hypogranularity, and hyperkeratosis. In addition, mice that constitutively express high levels of IL‐22 or IL‐20 demonstrate a psoriasis‐like appearance. A therapy counteracting IL‐22 and IL‐20 would be an innovative treatment with the potential for few side effects that would act on the final phase of psoriasis pathogenesis.
Genome‐wide analysis of fungal manganese transporters, with an emphasis on Phanerochaete chrysosporium
Authors: Diss Loic , Blaudez Damien , Gelhaye Eric , Chalot Michel 
Published: January 2011

SummaryGenome‐wide analysis of fungal manganese transporters was undertaken, making use of whole genome sequences available in fungal databases. A repertoire of 281 putative manganese transporters was found in total across 26 fungal species representing 20 fungal orders. The process of gene duplication was apparently accompanied by gene loss events, and this resulted in a great variety of manganese transporters that can be observed in the genome of modern fungi. Eleven transporters belonging to gene families in which manganese transporters have been found were identified in the Phanerochaete chrysosporium genome. This whole set of transporters may cover the need of P. chrysosporium cells for manganese loading in and unloading out of the cytosol, thereby insuring manganese homeostasis. The tight control of intracellular Mn2+ ion concentration is for instance of crucial importance for the control of lignin‐degradative systems by saprotrophic fungi, and thereof the carbon cycle in forest ecosystems.
Colorectal cancer detection: time to abandon barium enema?
Authors: Shariff M K , Sheikh K , Carroll N R , Whitley S , Greenberg D , Parkes M , Cameron E A B 
Published: January 2011

ObjectivesTo assess the sensitivity of double contrast barium enema (DCBE) for diagnosing colorectal cancer (CRC).DesignRetrospective evaluation of DCBE performed in the 2 years prior to diagnosis of CRC.SettingTeaching hospital in Cambridge, UK.Patients1310 consecutive cases of CRC identified from cancer registry data.InterventionsDCBE and colonoscopy.Main outcome measuresSensitivity of DCBE for diagnosing CRC.Results215 patients had undergone a DCBE within the 2 years prior to diagnosis with CRC. After excluding those reported as inadequate, 37 of these were reported as normal, giving a sensitivity of 83% (81–85%).ConclusionsThe performance of DCBE is inadequate for the exclusion of CRC. Expansion of colonoscopy and CT colonography capacity is urgently required nationally so that DCBE can finally be abandoned as a firstline test in patients at risk of CRC.
Influence of Global Navigation Satellite System errors in positioning inventory plots for tree-height distribution studiesThis article is one of a selection of papers from Extending Forest Inventory and Monitoring over Space and Time.
Authors: Mauro F. , Valbuena R. , Manzanera J. A. , García-Abril A. 
Published: January 2011

Validation of predictive models in remote sensing requires a good coregistration of field and sensor data sets. However, previous research has demonstrated that Global Navigation Satellite System survey techniques often produce large positioning errors when applied to areas under forest canopies. In this article, we present a repeatable methodology for analyzing the effect of such errors when validating models that predict tree-height distributions from LiDAR data sets. The method is based on conditional probability theory applied to error positioning and includes an error assessment of the surveying technique. A technical criterion for selecting the plot radius that avoids significant effects of positioning errors was proposed. We demonstrated that for a plot radius greater than 10 m, the effects of positioning errors introduced by a phase-differential device were insignificant when studying forest tree-height distributions.
Effects of climate on growth of lodgepole pine and white spruce following site preparation and its implications in a changing climate
Authors: Cortini Francesco , Comeau Philip G. , Boateng Jacob O. , Bedford Lorne , McClarnon John , Powelson Allan 
Published: January 2011

Site preparation and vegetation control can be used to mitigate climate change effects on early plantation growth in boreal forests. In this study, we explored growth of lodgepole pine ( Pinus contorta Dougl. ex Loud. var. latifolia Engelm.) and white spruce ( Picea glauca (Moench) Voss) in relation to climate and site preparation using 20 years of data collected from studies in British Columbia. Results indicate that up to 45% of the variation in spruce growth and up to 37% of the variation in pine growth over this 20-year period can be explained by selected climatic variables. Monthly climate variables showed a stronger relationship to conifer growth than seasonal and annual variables. Climate variables related to the preceding year accounted for more than half of the variables in the final equations, indicating a lagged response in conifer growth. Future projections indicated that height growth of young lodgepole pine plantations in the sub-boreal zone could benefit (in the short term) from longer growing seasons by up to 12% on untreated stands. Untreated young white spruce plantations in the boreal zone may suffer height growth decreases of up to 10% due to increased drought stress. Vegetation control and mechanical site preparation treatments appear to mitigate effects of climate change to some extent.
Effects of climate warming on canopy water dynamics of a boreal black spruce plantation
Authors: Van Herk Ingrid G. , Gower Stith T. , Bronson Dustin R. , Tanner Myron S. 
Published: January 2011

The purpose of this study was to quantify the effects of climate change (in the form of elevated air and soil temperatures) on transpiration and sap flux rates of black spruce ( Picea mariana (Mill.) BSP). Five treatments were established in northern Manitoba, Canada, with the experimental design consisting of heated and control blocks. Air and soil temperatures were maintained approximately 5 °C above control temperatures using greenhouse chambers. Two of the chambers also included controls to maintain ambient vapor pressure difference (VPD). Sap flux (JS), was not significantly different among treatments in the May or July time periods. However, JS was significantly greater for heated VPD controlled trees than for trees in all other treatments when averaged over the entire study period. JS was positively correlated to photosynthetic photon flux density for all trees. Lower photosynthetic photon flux density in chamber treatments resulted in the creation of models used to estimate JS and canopy transpiration (EC) values that were used in the analysis. Average daily and cumulative growing season EC values were significantly greater for the heated VPD controlled treatments than for other treatments. The results from this study suggest that EC of boreal black spruce will increase if VPD remains unchanged while air temperatures increase.
Assessment of weather-associated causes of red spruce winter injury and consequences to aboveground carbon sequestration
Authors: Schaberg Paul G. , Lazarus Brynne E. , Hawley Gary J. , Halman Joshua M. , Borer Catherine H. , Hansen Christopher F. 
Published: January 2011

Despite considerable study, it remains uncertain what environmental factors contribute to red spruce ( Picea rubens Sarg.) foliar winter injury and how much this injury influences tree C stores. We used a long-term record of winter injury in a plantation in New Hampshire and conducted stepwise linear regression analyses with local weather and regional pollution data to determine which parameters helped account for observed injury. Two types of weather phenomena were consistently associated with elevated injury: (i) measures of low-temperature stress that incite injury and (ii) factors that reduced the length of the growing season and predisposed trees to injury. At this plantation, there was a significant linear relationship between winter injury and growth reductions for 2 years after a severe winter injury event. Analysis using data from three New England states indicated that plantation data reflected a regional response. Using regional data, we estimated a reduction of 394 000 metric tons of C sequestered in living red spruce stems ≥20 cm in diameter growing in New York and northern New England during the 2 years following a severe winter injury event. This is a conservative estimate of reduced C sequestration because injury-induced mortality and other factors were not evaluated.
Genetic mapping of linkage group XIX and identification of sex-linked SSR markers in a Populus tremula × Populus tremuloides cross
Authors: Pakull Birte , Groppe Katrin , Mecucci Federica , Gaudet Muriel , Sabatti Maurizio , Fladung Matthias 
Published: January 2011

A progeny of 130 F1individuals of an interspecific cross between Populus tremula L. and Populus tremuloides Michx. was used for genetic mapping of linkage group XIX with SSR markers based on the Populus trichocarpa Torr. & A. Gray genome sequence. Several fully sex-linked SSR markers were identified and mapped to a central position on the male P. tremuloides map of linkage group XIX. For the SSR markers tested here, the position on the assembled P. trichocarpa genome sequence is known, allowing sex-linked markers to be assigned to the central region of scaffold/chromosome 19 of P. trichocarpa. The sex linkage of the SSR markers was validated in other P. tremula × P. tremuloides crosses and also tested in Populus alba L. and Populus nigra L.
MORPHIC CHARACTERIZATIONS OF LANGUAGE FAMILIES IN TERMS OF INSERTION SYSTEMS AND STAR LANGUAGES
Authors: OKUBO FUMIYA , YOKOMORI TAKASHI 
Published: January 2011

Insertion systems have a unique feature in that only string insertions are allowed, which is in marked contrast to a variety of the conventional computing devices based on string rewriting. This paper will mainly focus on those systems whose insertion operations are performed in a context-free fashion, called context-free insertion systems, and obtain several characterizations of language families with the help of other primitive languages (like star languages) as well as simple operations (like projections, weak-codings). For each k ≥ 1, a language L is a k-star language if L = F+ for some finite set F with the length of each string in F is no more than k. The results of this kind have already been presented in [10] by Păun et al., while the purpose of this paper is to prove enhanced versions of them. Specifically, we show that each context-free language L can be represented in the form L = h(L(γ)∩F+), where γ is an insertion system of weight (3, 0) (at most three symbols are inserted in a context-free manner), h is a projection, and F+ is a 2-star language. A similar characterization can be obtained for recursively enumerable languages, where insertion systems of weight (3, 3) and 2-star languages are involved.
Cleaved High-Molecular-Weight Kininogen Accelerates the Onset of Endothelial Progenitor Cell Senescence by Induction of Reactive Oxygen Species
Authors: Dai Jihong , Zhu Xuemei , Yoder Mervin C. , Wu Yi , Colman Robert W. 
Published: January 2011

Objective—
Cleaved high-molecular-weight kininogen (HKa), an activation product of the plasma kallikrein-kinin system, inhibits endothelial cell functions. We questioned whether HKa affects the function of endothelial progenitor cells (EPCs) and accelerates their senescence.

Methods and Results—

Treatment with HKa for 2 weeks markedly inhibited the formation of large colonies and proliferation of EPCs on collagen surfaces, whereas HKa did not affect collagen-mediated EPC adhesion and survival. Concomitantly, treated EPCs displayed flattened and giant cell morphological changes and formation of intracellular vacuoles. As determined by acidic β-galactosidase staining, HKa increased senescent EPCs by 2- and >3-fold after culture for 1 and 2 weeks, respectively. In addition, HKa suppressed the telomerase activity of EPCs. HKa concentration-dependently increased the generation of intracellular reactive oxygen species (ROS) and markedly upregulated p38 kinase phosphorylation and prosenescence molecule p16
INK4a
expression. SB203580, a p38 inhibitor, attenuated the level of HKa-enhanced p16
INK4a
expression. Either quenching of ROS or inhibition of p38 kinase prevented HKa-induced EPC senescence.

Conclusion—

HKa accelerates the onset of EPC senescence by activating the ROS–p38 kinase–p16
INK4a
signaling cascade. This novel activity of HKa points out the likelihood of HKa serving as an endogenous inducer of EPC senescence.