bluuebunny/crossref_metadata_2025_split huggingface dataset:
Endoscopic stapling in comparison to laparoscopic fundoplication for the treatment of gastroesophageal reflux disease
Authors: Danalioglu Ahmet , Cipe Gokhan , Toydemir Toygar , Kocaman Orhan , Ince Ali Tuzun , Muslumanoglu Mahmut , Senturk Hakan 
Published: April 2013

BackgroundThe SRSTM Endoscopic Stapling System (Medigus Ltd, Omer, Israel) is a novel method for the treatment of gastroesophageal reflux disease (GERD). The present study assessed the safety and efficacy of SRS compared with laparoscopic anti‐reflux surgery (LARS).Patients and MethodsOf 27 participants, 11 underwent SRS and 16 LARS. Symptoms were assessed using Velanovich GERD–health‐related quality of life (GERD‐HRQL) scores. The groups were compared in reference to operation time, improvement in GERD‐HRQL scores, and postoperative course. Chi‐squared and Mann–Whitney‐U‐tests were used for statistical analysis.ResultsOf 16 (59.3%) male and 11 (40.7%) female patients, mean age was 39.6 (range: 24–60) years and mean body mass index was 26.2 kg/m2. Both groups were statistically similar. An esophageal perforation observed in the SRS group completely recovered after over‐the‐scope clipping. Procedure times for SRSand LARS were 89 and 47 min, respectively (P < 0.05). Mean discharge time was longer for SRS than LARS (3 days vs 1.2 days, P < 0.05). However, this difference disappeared with the exclusion of a complicated patient with long hospitalization in the SRS group. During 6 months mean follow up, proton‐pump inhibitor use was insignificantly higher in the SRS group (P > 0.05). Mean GERD‐HRQL scores dropped in 87% and in 64% of patients (P > 0.05) from 29.3 to 4.1 and from 24.8 to 8.9 (P = 0.016) in LARS and SRS groups, respectively.ConclusionThe short‐term results of SRS are promising. The forthcoming new‐generation devices and increasing experience may further improve efficacy and decrease untoward effects.
Early developmental outcomes in children following convulsive status epilepticus: A longitudinal study
Authors: Martinos Marina M. , Yoong Michael , Patil Shekhar , Chong Wui K. , Mardari Rodica , Chin Richard F. M. , Neville Brian G. R. , de Haan Michelle , Scott Rod C. 
Published: April 2013

SummaryPurposeConvulsive status epilepticus (CSE) is the most common pediatric neurologic emergency and is often associated with unfavorable neurodevelopmental outcomes. The early developmental trajectory of children following CSE has not been previously investigated, leaving a gap in our understanding of how these adverse long‐term outcomes emerge.MethodsWe prospectively recruited children aged between 1 and 42 months from a predefined geographic region of North London who had at least one episode of CSE and classified them as prolonged febrile seizures (PFS) or nonfebrile CSE. Neuropsychological and imaging investigations were conducted within 6 weeks of CSE (baseline) and were repeated a year later (follow‐up). Neurodevelopment was assessed using the Bayley Scales of Infant Development III and compared to normally developing children. Predictors of neurodevelopmental scores at baseline and follow‐up were investigated using regression analyses.Key FindingsOf the 54 children that underwent investigations a mean of 38 days following CSE, 27 had PFS (mean age 18.4 months) and 27 had nonfebrile CSE (mean age 15.5 months). In addition, 17 healthy controls were assessed (mean age 20.49 months). Children with nonfebrile CSE had a worse developmental outcome than children with PFS (p < 0.002), despite there being no differences in seizure characteristics. In contrast to expectations, the PFS group had a worse developmental outcome than controls (p = 0.002). There were no significant differences in performance from baseline to 1‐year follow‐up for the 70.4% of children who provided data. Seizure characteristics were not shown to be significant predictors of performance.SignificanceCSE is associated with developmental impairments within 6 weeks of the acute event that continue to be present a year onward. This is also true of PFS cases that under‐perform relative to controls despite mean scores within the clinically normal range. The absence of a change in performance from baseline to follow‐up as well as the lack of a relationship between seizure characteristics and developmental outcomes supports the notion that premorbid abilities may be overshadowing any direct effects of CSE itself on outcome.
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies
Authors: Heron Sarah E. , Ong Yeh Sze , Yendle Simone C. , McMahon Jacinta M. , Berkovic Samuel F. , Scheffer Ingrid E. , Dibbens Leanne M. 
Published: April 2013

SummaryHeterozygous mutations in PRRT2 have recently been identified as the major cause of autosomal dominant benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis syndrome (ICCA), and paroxysmal kinesigenic dyskinesia (PKD). Homozygous mutations in PRRT2 have also been reported in two families with intellectual disability (ID) and seizures. Heterozygous mutations in the genes KCNQ2 and SCN2A cause the two other autosomal dominant seizure disorders of infancy: benign familial neonatal epilepsy and benign familial neonatal‐infantile epilepsy. Mutations in KCNQ2 and SCN2A also contribute to severe infantile epileptic encephalopathies (IEEs) in which seizures and intellectual disability co‐occur. We therefore hypothesized that PRRT2 mutations may also underlie cases of IEE. We examined PRRT2 for heterozygous, compound heterozygous or homozygous mutations to determine their frequency in causing epileptic encephalopathies (EEs). Two hundred twenty patients with EEs with onset by 2 years were phenotyped. An assay for the common PRRT2 c.649‐650insC mutation and high resolution‐melt analysis for mutations in the remaining exons of PRRT2 were performed. Neither the common mutation nor any other pathogenic variants in PRRT2 were detected in the 220 patients. Our findings suggest that mutations in PRRT2 are not a common cause of IEEs.
Network‐specific mechanisms may explain the paradoxical effects of carbamazepine and phenytoin
Authors: Thomas Evan A. , Petrou Steven 
Published: April 2013

SummaryPurposeA common notion of the mechanism by which the antiepileptic drugs (AEDs) carbamazepine and phenytoin act is that they block sodium channels by binding preferentially to the inactivated state, thereby allowing normal neuronal firing while blocking ictal activity. However, these drugs have unpredictable efficacy and, in some cases, may exacerbate seizures. Previous studies have suggested that reducing sodium channel availability in the dentate gyrus (DG) paradoxically increases excitability. We used a biophysically detailed computer model of the DG to test the hypothesis that AEDs increase excitability by disproportionately reducing negative feedback mechanisms.MethodsWe built a Markov model of sodium channel gating that reproduces responses to voltage clamp experiments in the presence of carbamazepine and phenytoin. We incorporated this validated Markov model into a biophysically realistic computer model of DG neurons and networks. Simulated drug concentrations were similar to those measured in cerebral spinal fluid in medicated patients. Single neuron models were stimulated with current injections, and networks were stimulated with perforant path synaptic input. In the network model, environmental effects were studied by introducing mossy fiber sprouting.Key FindingsAs expected, drugs reduced sodium channel availability, which in turn reduced action potential amplitude. This had only a small effect on action potential (AP) firing rate during brief (100 msec) current injections. Paradoxically, long current injections (2,500 msec) increased AP firing rates. This was caused by reduced calcium entry and consequently reduced activation of calcium activated potassium channels. It is important to note that the main determinant of drug effect was resting membrane potential (RMP) and not action potential firing rate. Binding of phenytoin and carbamazepine is slow and, thus drug effects are largely determined by the long term state of the RMP. This paradoxical AP firing increase was dependent on the unusually large calcium‐activated potassium conductances expressed by DG granule cells. This predicts that drug efficacy in a given network will depend on the precise makeup of conductances in the network. RMP is expected to vary with the level of activity in the network. We simulated the effects of drugs on single shot stimulus responses in networks with mossy fiber sprouting and varied the RMP in all neurons as a model for network activity. For an RMP of −50 mV, representing an active network, drugs had no effect, or in some cases, increased excitability. Drugs had an increasingly larger inhibitory effect on network responses as RMP decreased. An important prediction is that drugs will be unable to block ictal activity invading an active network.SignificanceOur key findings are that drug effects depend on both intrinsic properties of the network and its behavioral state. This may explain the paradoxical and unpredictable effects of some AEDs on seizure control in some patients.
Nanoscale infrared (IR) spectroscopy and imaging of structural lipids in human stratum corneum using an atomic force microscope to directly detect absorbed light from a tunable IR laser source
Authors: Marcott Curtis , Lo Michael , Kjoller Kevin , Domanov Yegor , Balooch Guive , Luengo Gustavo S. 
Published: April 2013

AbstractAn atomic force microscope (AFM) and a tunable infrared (IR) laser source have been combined in a single instrument (AFM‐IR) capable of producing ~200‐nm spatial resolution IR spectra and absorption images. This new capability enables IR spectroscopic characterization of human stratum corneum at unprecendented levels. Samples of normal and delipidized stratum corneum were embedded, cross‐sectioned and mounted on ZnSe prisms. A pulsed tunable IR laser source produces thermomechanical expansion upon absorption, which is detected through excitation of contact resonance modes in the AFM cantilever. In addition to reducing the total lipid content, the delipidization process damages the stratum corneum morphological structure. The delipidized stratum corneum shows substantially less long‐chain CH2‐stretching IR absorption band intensity than normal skin. AFM‐IR images that compare absorbances at 2930/cm (lipid) and 3290/cm (keratin) suggest that regions of higher lipid concentration are located at the perimeter of corneocytes in the normal stratum corneum.
Postnatal regulation of X,K‐ATPases in rat skin and conserved lateroapical polarization of Na,K‐ATPase in vertebrate epidermis
Authors: Pestov Nikolay B. , Korneenko Tatyana V. , Shakhparonov Mikhail I. , Modyanov Nikolai N. 
Published: April 2013

AbstractDevelopment of epidermis creates stratified epithelium with different sets of ion‐transporting enzymes in its layers. We have characterized expression of Na,K‐ and H,K‐ATPase α and β subunits and FXYD isoforms in rat skin. Maturation of rat skin from newborn to adult is associated with an increase in FXYD4 and a decrease of Na,K‐ATPase α1‐isoform, ATP1B4 and FXYD6 transcripts. Na,K‐ATPase of rat epidermis is represented predominantly by α1 and β3 isoforms. Keratinization is associated with the loss of the Na,K‐ATPase α‐subunit and an enrichment of αng. Na,K‐ATPase α1 is abundant in the innermost layer, stratum basale, where it is lacking in basal membranes, thus indicating lateroapical polarization of Na,K‐ATPase. Immunocytochemical detection of Na,K‐ATPase in Xenopus laevis skin shows that cellular and subcellular localization of the enzyme has a pattern highly similar to that of mammals: basolateral in glandular epithelium and lateroapical in epidermis.
Donor, Dad, or…? Young Adults with Lesbian Parents’ Experiences with Known Donors
Authors: Goldberg Abbie E. , Allen Katherine R. 
Published: April 2013

In this exploratory qualitative study of 11 young adults, ages 19–29 years, we examine how young people who were raised by lesbian parents make meaning out of and construct their relationships with known donors. In‐depth interviews were conducted to examine how participants defined their family composition, how they perceived the role of their donors in their lives, and how they negotiated their relationships with their donors. Findings indicate that mothers typically chose known donors who were family friends, that the majority of participants always knew who their donors were, and that their contact with donors ranged from minimal to involved. Further, participants perceived their donors in one of three ways: as strictly donors and not members of their family; as extended family members but not as parents; and as fathers. The more limited role of donors in participants' construction of family relationships sheds light on how children raised in lesbian, gay, and bisexual families are contributing to the redefinition and reconstruction of complex kinship arrangements. Our findings hold implications for clinicians who work with lesbian‐mother families, and suggest that young adulthood is an important developmental phase during which interest in and contact with the donor may shift, warranting a transfer of responsibility from mother to offspring in terms of managing the donor‐child relationship.
Temperature and precipitation drive temporal variability in aquatic carbon and GHG concentrations and fluxes in a peatland catchment
Authors: Dinsmore K. J. , Billett M. F. , Dyson K. E. 
Published: April 2013

AbstractThe aquatic pathway is increasingly being recognized as an important component of catchment carbon and greenhouse gas (GHG) budgets, particularly in peatland systems due to their large carbon store and strong hydrological connectivity. In this study, we present a complete 5‐year data set of all aquatic carbon and GHG species from an ombrotrophic Scottish peatland. Measured species include particulate and dissolved forms of organic carbon (POC, DOC), dissolved inorganic carbon (DIC), CO2, CH4 and N2O. We show that short‐term variability in concentrations exists across all species and this is strongly linked to discharge. Seasonal cyclicity was only evident in DOC, CO2 and CH4 concentration; however, temperature correlated with monthly means in all species except DIC. Although the temperature correlation with monthly DOC and POC concentrations appeared to be related to biological productivity in the terrestrial system, we suggest the temperature correlation with CO2 and CH4 was primarily due to in‐stream temperature‐dependent solubility. Interannual variability in total aquatic carbon concentration was strongly correlated with catchment gross primary productivity (GPP) indicating a strong potential terrestrial aquatic linkage. DOC represented the largest aquatic carbon flux term (19.3 ± 4.59 g C m−2 yr−1), followed by CO2 evasion (10.0 g C m−2 yr−1). Despite an estimated contribution to the total aquatic carbon flux of between 8 and 48%, evasion estimates had the greatest uncertainty. Interannual variability in total aquatic carbon export was low in comparison with variability in terrestrial biosphere–atmosphere exchange, and could be explained primarily by temperature and precipitation. Our results therefore suggest that climatic change is likely to have a significant impact on annual carbon losses through the aquatic pathway, and as such, aquatic exports are fundamental to the understanding of whole catchment responses to climate change.
Changes in atmospheric CO2 influence the allergenicity of Aspergillus fumigatus
Authors: Lang‐Yona Naama , Levin Yishai , Dannemiller Karen C. , Yarden Oded , Peccia Jordan , Rudich Yinon 
Published: April 2013

AbstractIncreased susceptibility to allergies has been documented in the Western world in recent decades. However, a comprehensive understanding of its causes is not yet available. It is therefore essential to understand trends and mechanisms of allergy‐inducing agents, such as fungal conidia. In this study, we investigated the hypothesis that environmental conditions linked to global atmospheric changes can affect the allergenicity of Aspergillus fumigatus, a common allergenic fungal species in indoor and outdoor environments and in airborne particulate matter. We show that fungi grown under present‐day CO2 levels (392 ppm) exhibit 8.5 and 3.5 fold higher allergenicity compared to fungi grown at preindustrial (280 ppm) and double (560 ppm) CO2 levels, respectively. A corresponding trend is observed in the expression of genes encoding for known allergenic proteins and in the major allergen Asp f1 concentrations, possibly due to physiological changes such as respiration rates and the nitrogen content of the fungus, influenced by the CO2 concentrations. Increased carbon and nitrogen levels in the growth medium also lead to a significant increase in the allergenicity. We propose that climatic changes such as increasing atmospheric CO2 levels and changes in the fungal growth medium may impact the ability of allergenic fungi such as A. fumigatus to induce allergies.
The effect of labour on the coagulation system in the term neonate
Authors: Kulkarni A. A. , Osmond M. , Bapir M. , Riddell A. , Smith C. , Lee C. A. , Kadir R. A. 
Published: April 2013

SummaryThe coagulation system of the foetus is markedly different from that of adults. To assess the influence of maternal age, mode of delivery and intrapartum events, and foetal gender and weight on the foetal coagulation system. Cord blood was collected from 154 healthy pregnant women, with gestational age 37 – 42 weeks at birth. Mann–Whitney test was used for analysis of binary data and continuous variables were analysed using Pearson's correlation coefficient. Mean cord blood levels of FVIII:C, VWF:Ag, VWF:CB, FIX, FXI, FXII and plasminogen were significantly higher in babies delivered after labour, compared to those delivered after an elective caesarean. Mean cord blood levels of FII (P = 0.003), FV (P = 0.009), FVII (P = 0.0004) and FX (P = 0.0009) were significantly lower in the babies with meconium stained liquor in labour, compared with those with clear liquor. Augmentation with oxytocin, instrumental delivery, did not affect any of the factor levels and duration of labour did not have an effect on the level of coagulation proteins in cord blood. This study provides valuable information about effect of labour on the coagulation system of the foetus. It is concluded that, in cord blood, the results of coagulation parameters in the newborn baby should be considered in light of mode of delivery and events of labour.
Molecular basis of quantitative fibrinogen disorders in 27 patients from India
Authors: Sumitha E. , Jayandharan G. R. , Arora N. , Abraham A. , David S. , Devi G. S. , Shenbagapriya P. , Nair S. C. , George B. , Mathews V. , Chandy M. , Viswabandya A. , Srivastava A. 
Published: April 2013

SummaryCongenital fibrinogen deficiency is an extremely rare (1:1 000 000) hereditary bleeding disorder caused by defects in genes coding for fibrinogen Aα‐, Bβ‐ and γ‐chains, respectively. We report here the molecular basis of fibrinogen deficiency in a large series of patients from India. Twenty‐seven patients with clinical features suggestive of fibrinogen deficiency and with prolonged plasma clotting times and low fibrinogen levels were studied. Genomic DNA was screened for mutations in the fibrinogen alpha (FGA), beta (FGB), gamma (FGG) genes by PCR and conformation sensitive gel electrophoresis. Fourteen different disease‐causing mutations including frameshifts (51.9%), splice site (22.2%), missense (18.5%) and nonsense mutation (7.4%) were identified in 27 patients. Thirteen of them were novel, including seven frameshifts (fibrinogen Aα: p.Asp296 fs*59, p.Thr466 fs*17 and p.Lys575 fs*74; fibrinogen Bβ: p.Gly414 fs*2 and fibrinogen γ: p.Ser81 fs*5, p.Lys185 fs*13 and p.Asp278_279 fs*17), three splice site mutations (FGA gene c.364+1G>A; c.510+2 T>G; FGB gene c.851+1G>A), two missense substitutions (fibrinogen Bβ: p.Gly288Ser; p.Arg445Thr) and a nonsense mutation in fibrinogen Aα (p.Tyr127*). Two common mutations (FGA: c.364+1G>A, n = 6, FGG: p.Lys185 fs*13, n = 7) affecting 13 patients were identified in this series, suggesting that these mutations could be screened first in Indian patients with fibrinogen deficiency. The molecular data presented here is the largest series of patients with fibrinogen deficiency reported so far, adding significantly to the mutation database of this condition. It also helps create an algorithm for its genetic diagnosis in India.
Inhibition of Glutaminyl Cyclases alleviates CCL2‐mediated inflammation of non‐alcoholic fatty liver disease in mice
Authors: Cynis Holger , Kehlen Astrid , Haegele Monique , Hoffmann Torsten , Heiser Ulrich , Fujii Masato , Shibazaki Yuichiro , Yoneyama Hiroyuki , Schilling Stephan , Demuth Hans‐Ulrich 
Published: April 2013

SummaryInflammation is an integral part of non‐alcoholic fatty liver disease (NAFLD), the most prevalent form of hepatic pathology found in the general population. In this context, recently we have examined the potential role of Glutaminyl Cyclases (QC and isoQC), and their inhibitors, in the maturation of chemokines, for example, monocyte chemoattractant protein 1 (MCP‐1, CCL2), to generate their bioactive conformation. Catalysis by isoQC leads to the formation of an N‐terminal pyroglutamate residue protecting CCL2 against degradation by aminopeptidases. This is of importance because truncated forms possess a reduced potential to attract immune cells. Since liver inflammation is characterized by the up‐regulation of different chemokine pathways, and within this CCL2 is known to be a prominent example, we hypothesised that application of QC/isoQC inhibitors may alleviate liver inflammation by destabilizing CCL2. Therefore, we investigated the role of QC/isoQC inhibition, in comparison with the angiotensin receptor blocker Telmisartan, during development of pathology in a mouse model of non‐alcoholic fatty liver disease. Application of a QC/isoQC inhibitor led to a significant reduction in circulating alanine aminotransferase and NAFLD activity score accompanied by an inhibitory effect on hepatocyte ballooning. Further analysis revealed a specific reduction of inflammation by decreasing the number of F4/80‐positive macrophages, which is in agreement with the proposed CCL2‐related mechanism of action of QC/isoQC inhibitors. Finally, QC/isoQC inhibitor application attenuated liver fibrosis as characterized by reduced collagen deposition in the liver parenchyma. Thus in conclusion, QC/isoQC inhibitors are a promising novel class of anti‐non‐alcoholic steatohepatitis drugs which have a comparable disease‐modifying effect to that of Telmisartan, which is probably mediated via specific interference with a comparable monocyte/macrophage infiltration that occurs under inflammatory conditions.
A Simple Way to Prepare C/SiC Spring
Authors: Chen Si'an , Zhang Yudi , Zhang Changrui , Xiong Xin , Li Guangde , Hu Haifeng 
Published: April 2013

A new method to form helical C/SiC spring is proposed. Using paraffin mold as a sacrificial core, unidirectional carbon fiber bundles (infiltrated with resin) are wrapped around the mold to form helical spring, and after resin curing, the mold is removed, leaving a preform of C/SiC spring. Following densification is finished with precursor infiltration and pyrolysis (PIP) process. The spring constant of C/SiC spring reaches 7.88 N/mm and could be regulated by varying composite density and carbon fiber content. The spring properties could be improved by twisting the carbon fibers at 35–50 twist/m. The restoration ratio reaches 100%, but energy dissipation happens during unloading process. After oxidation in air at 1200°C for 10 min, the spring has an 82.4% spring constant remaining ratio.