bluuebunny/crossref_metadata_2025_split huggingface dataset:
How should we be searching for genes for common epilepsy? A critique and a prescription
Authors: Greenberg David A. , Stewart William C. L. 
Published: September 2012

SummaryDespite enormous data collection and analysis efforts, the genetic influences on common epilepsies remain mostly unknown. We propose that reasons for the lack of progress can be traced to three factors: (1) A reluctance to consider fine‐grained phenotype definitions based on extensive and carefully collected clinical data; (2) the pursuit of genetic analysis methods that are popular but poorly conceived and are inadequate to the task of resolving the problems inherent in common disease studies; (3) preconceived ideas about the genetic mechanisms that cause epilepsy (which we have discussed elsewhere). We propose a paradigm for finding epilepsy‐related loci and alleles that has proven successful in other common diseases.
Complex single gene disorders and epilepsy
Authors: Merwick Aine , O’Brien Margaret , Delanty Norman 
Published: September 2012

SummaryEpilepsy is a heterogenous group of disorders, often associated with significant comorbidity, such as intellectual disability and skin disorder. The genetic underpinnings of many epilepsies are still being elucidated, and we expect further advances over the coming 5 years, as genetic technology improves and prices fall for whole exome and whole genome sequencing. At present, there are several well‐characterized complex epilepsies associated with single gene disorders; we review some of these here. They include well‐recognized syndromes such as tuberous sclerosis complex, epilepsy associated with Rett syndrome, some of the progressive myoclonic epilepsies, and novel disorders such as epilepsy associated with mutations in the PCDH 19 gene. These disorders are important in informing genetic testing to confirm a diagnosis and to permit better understanding of the variability in phenotype–genotype correlation.
Mitochondrial diseases and epilepsy
Authors: Bindoff Laurence A. , Engelsen Bernt A. 
Published: September 2012

SummaryThe mitochondrial respiratory chain is the final common pathway for energy production. Defects affecting this pathway can give rise to disease that presents at any age and affects any tissue. However, irrespective of genetic defect, epilepsy is common and there is a significant risk of status epilepticus. This review summarizes our current understanding of the epilepsy that occurs in mitochondrial disease, focusing on three of the most common disorders: mitochondrial myopathy encephalopathy, lactic acidosis and stroke‐like episodes (MELAS), myoclonus epilepsy and ragged‐red fibers (MERRF), and polymerase gamma (POLG) related disease. In addition, we review the pathogenesis and possible treatment of these disorders.
Inhibition of hippocampal excitability by citalopram
Authors: Igelström Kajsa M. , Heyward Philip M. 
Published: September 2012

SummaryPurpose:  Preclinical data have suggested that selective serotonin reuptake inhibitors (SSRIs) may have anticonvulsant properties, and some SSRIs are known to modulate ion channels in vitro. We screened citalopram, fluoxetine, and sertraline for anticonvulsant actions in mouse hippocampal slices, and studied the effects of citalopram on active membrane properties and repetitive action potential firing.Methods:  To enable testing of antiepileptic effects and target modulation in a single experimental system, we used the simplistic low‐Ca2+ model, which is strongly dependent on the intrinsic excitability of CA1 pyramidal neurons. Field potentials and whole‐cell currents were recorded from brain slices, and SSRIs were bath‐applied.Key Findings:  We found that citalopram, fluoxetine, and sertraline inhibited epileptiform activity recorded from area CA1. The effect of citalopram was more potent and less variable than that of fluoxetine and sertraline. The anticonvulsant action of citalopram was accompanied by marked slowing of action potential rise and decay, and robust inhibition of repetitive firing. This depression of membrane excitability appeared to be mediated in part by inhibition of a sustained potassium current.Significance:  These findings confirm that SSRIs can have anticonvulsant effects in the hippocampus, and further suggest that citalopram may exert these effects at least in part by inhibition of voltage‐gated ion currents.
Construction of an Implant‐Retained Auricular Prosthesis with the Aid of Contemporary Digital Technologies: A Clinical Report
Authors: Hatamleh Muhanad M. , Watson Jason 
Published: September 2012

AbstractImplant‐retained auricular prostheses are a successful treatment modality for children with microtia. They involve only minor surgical intervention of implant placement and result in an esthetically pleasing outcome. Integration of digital technologies (DT) in the prosthetic reconstruction process is a new approach toward enhancing outcomes. In this report we present a case of auricular prosthetic reconstruction following two implant placements in the right mastoid region. The ear prosthesis was constructed with the aid of various DTs. A structured light laser scanner was used to digitize the nondefect patient ear. The digitized 3D ear was then manipulated in specialist software, mirrored to reflect the opposing side, and a Rapid Prototyping (RP) machine (Z‐Corp) was used to manufacture the soft tissue required. This RP‐mirrored ear model allows very accurate reproduction to replicate missing soft tissue. A color Spectrometer was used to accurately reproduce skin tones. The use of these technologies is now routine practice at our unit. They enhance prosthetic outcomes and esthetics, save the prosthetist's time, and are digitally stored and subsequently readily available and reproducible.
Antibiotics and Antiseptics to Prevent Infection in Cardiac Rhythm Management Device Implantation Surgery
Authors: DAROUICHE RABIH , MOSIER MICHAEL , VOIGT JEFFREY 
Published: September 2012

Background: Surgical site infections (SSIs) resulting from cardiac implantable electronic device (CIED) implantation cause significant morbidity and mortality, and are increasing at a disproportionately higher rate than the rate of CIED implantation. The prophylactic administration of antibiotics and antiseptics can reduce this infection rate.The objective of this systematic review and meta‐analysis was to determine whether the prophylactic administration of antibiotics and antiseptics in patients undergoing CIED implantation reduces the incidence of SSI in randomized controlled trials.We searched the Cochrane Wounds Group Specialized Register, the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2011, Issue 2), Ovid MEDLINE, Ovid EMBASE, and EBSCO CINAHL. No date or language restrictions were applied.
Methods: Two review authors independently screened papers for inclusion, assessed risk of bias, and extracted data using a data collection form. Data were pooled where appropriate.
Results: Fifteen studies (3,970 participants) were included in this review. For patients undergoing a CIED implant, perioperative systemic antibiotics (PSA) plus antiseptics delivered 1 hour before the procedure significantly reduced the incidence of SSI compared with no antibiotics (risk ratio [RR] 0.13; 95% confidence interval [CI] 0.05–0.36; P value < 0.00001). Furthermore, PSA plus antiseptics significantly reduced the incidence of postoperative infection compared to antibiotics delivered postoperatively (RR 0.14; 95% CI 0.03–0.60; P value 0.008).
Conclusion: The evidence strongly suggests that antibiotic prophylaxis within 1 hour before CIED implantation is effective at reducing SSI. (PACE 2012; 35:1348–1360)
Cryoablation for Presumed Atrioventricular Nodal Reentrant Tachycardia in Pediatric Patients
Authors: VILLASENOR MARIO , SCHAFFER MICHAEL S. , COLLINS KATHRYN K. 
Published: September 2012

Background: Little data exist on the outcomes of cryoablation for the treatment of presumptive atrioventricular nodal reentrant tachycardia (AVNRT) in a pediatric population.
Methods: We performed a retrospective chart review of patients undergoing cryoablation from January 2006 to October 2010 for presumed AVNRT at the Children's Hospital Colorado. Inclusion criteria were age ≤ 18, normal heart structure, no prior ablation procedures, documented narrow complex tachycardia, and no inducible tachycardia or other tachycardia mechanisms during electrophysiology study.
Results: Thirteen patients underwent cryoablation for presumed AVNRT. Cryoablation catheter tip size varied from 4 to 8 mm with a median of eight cryoablation lesions. Isoproterenol was utilized preablation in 54% and none postablation. Procedural endpoints, per written report, were loss of sustained slow pathway, change in Wenckebach cycle length, and no specific endpoint. Procedural endpoints, per measured data, were a decrease in patients exhibiting sustained slow pathway conduction. Maximum atrial‐His (AH) interval with atrial overdrive pacing was reduced from 266 ms preablation to 167 ms postablation, p = 0.006. The number of patients with an AH jump was reduced from 6 to 2. After follow‐up of 13.8 ± 14.3 months, 23% (3/13) had documented tachycardia recurrence. No statistical significance was determined when comparing electrophysiology testing parameters pre‐ and postablation among the group with recurrence versus the group without recurrence.
Conclusions: Cryoablation can be considered as a safe alternative to radiofrequency ablation for the treatment of presumed AVNRT among pediatric patients, albeit with a recurrence rate of 23%. (PACE 2012; 35:1319–1325)
The Evaluation of Possible False Positives with Detergents when Performing Amylase Serological Testing on Clothing
Authors: Feia Andrea , Novroski Nicole 
Published: September 2012

AbstractFor almost 40 years, detergent companies have been adding enzymes such as amylases to their products as an effective method of breaking down tough stains created by polysaccharides and proteins. The possibility that α‐amylases present in common household laundry detergents may contribute to the positive detection of α‐amylase on evidentiary samples during forensic presumptive screening procedures is a potential problem that has not yet been investigated. To determine whether α‐amylase detection is possible following routine laundering, five different fabrics were laundered in a variety of detergents, and presumptive testing using RSID™‐Saliva and Phadebas® Amylase Test was conducted. Our results demonstrate that clothing laundered in detergents known to contain enzymes does not retain any detectable levels of α‐amylase following a typical wash cycle. We also show that, unlike laundered clothing, undiluted detergents do contain detectable levels of α‐amylase; however, these findings were only observed using the Phadebas® Amylase Test.
Characterization of the tissue‐level Ca2+ signals in spontaneously contracting human myometrium
Authors: Bru‐Mercier Gilles , Gullam Joanna E. , Thornton Steven , Blanks Andrew M. , Shmygol Anatoly 
Published: September 2012

AbstractIn the labouring uterus, millions of myocytes forming the complex geometrical structure of myometrium contract in synchrony to increase intrauterine pressure, dilate the cervix and eventually expel the foetus through the birth canal. The mechanisms underlying the precise coordination of contractions in human myometrium are not completely understood. In the present study, we have characterized the spatio‐temporal properties of tissue‐level [Ca2+]i transients in thin slices of intact human myometrium. We found that the waveform of [Ca2+]i transients and isotonic contractions recorded from thin slices was similar to the waveform of isometric contractions recorded from the larger strips in traditional organ bath experiments, suggesting that the spatio‐temporal information obtained from thin slices is representative of the whole tissue. By comparing the time course of [Ca2+]i transients in individual cells to that recorded from the bundles of myocytes we found that the majority of myocytes produce rapidly propagating long‐lasting [Ca2+]i transients accompanied by contractions. We also found a small number of cells showing desynchronized [Ca2+]i oscillations that did not trigger contractions. The [Ca2+]i oscillations in these cells were insensitive to nifedipine, but readily inhibited by the T‐type Ca2+ channel inhibitor NNC55‐0396. In conclusion, our data suggest that the spread of [Ca2+]i signals in human myometrium is achieved via propagation of long‐lasting action potentials. The propagation was fast when action potentials propagated along bundles of myocytes and slower when propagating between the bundles of uterine myocytes.
Cellularity and structure of fresh human coronary thrombectomy specimens; presence of cells with markers of progenitor cells
Authors: Jovin Ion S. , Lei Li , Huang Yan , Hao Zhengrong , Curtis Jeptha P. , Brennan Joseph J. , Remetz Michael S. , Setaro John F. , Pfau Steven E. , Howes Christopher J. , Clancy Jude F. , Cabin Henry S. , Cleman Michael W. , Giordano Frank J. 
Published: September 2012

AbstractAcute coronary syndromes and acute myocardial infarctions are often related to plaque rupture and the formation of thrombi at the site of the rupture. We examined fresh coronary thrombectomy specimens from patients with acute coronary syndromes and assessed their structure and cellularity. The thrombectomy specimens consisted of platelets, erythrocytes and inflammatory cells. Several specimens contained multiple cholesterol crystals. Culture of thrombectomy specimens yielded cells growing in various patterns depending on the culture medium used. Culture in serum‐free stem cell enrichment medium yielded cells with features of endothelial progenitor cells which survived in culture for a year. Immunohistochemical analysis of the thrombi revealed cells positive for CD34, cells positive for CD15 and cells positive for desmin in situ, whereas cultured cell from thrombi was desmin positive but pancytokeratin negative. Cells cultured in endothelial cell medium were von Willebrand factor positive. The content of coronary thrombectomy specimens is heterogeneous and consists of blood cells but also possibly cells from the vascular wall and cholesterol crystals. The culture of cells contained in the specimens yielded multiplying cells, some of which demonstrated features of haematopoietic progenitor cells and which differentiated into various cell‐types.
Shifting effects in randomised controlled trials of complex interventions: a new kind of performance bias?
Authors: Gold C. , Erkkilä J. , Crawford M. J. 
Published: September 2012

Gold C, Erkkilä J, Crawford MJ. Shifting effects in randomised controlled trials of complex interventions: a new kind of performance bias?Objective:  Randomised controlled trials (RCTs) aim to provide unbiased estimates of treatment effects. However, the process of implementing trial procedures may have an impact on the performance of complex interventions that rely strongly on the intuition and confidence of therapists. We aimed to examine whether shifting effects over the recruitment period can be observed that might indicate such impact.Method:  Three RCTs investigating music therapy vs. standard care were included. The intervention was performed by experienced therapists and based on established methods. We examined outcomes of participants graphically, analysed cumulative effects and tested for differences between first vs. later participants. We tested for potential confounding population shifts through multiple regression models.Results:  Cumulative differences suggested trends over the recruitment period. Effect sizes tended to be less favourable among the first participants than later participants. In one study, effects even changed direction. Age, gender and baseline severity did not account for these shifting effects.Conclusion:  Some trials of complex interventions have shifting effects over the recruitment period that cannot be explained by therapist experience or shifting demographics. Replication and further research should aim to find out which interventions and trial designs are most vulnerable to this new kind of performance bias.
Spatio‐temporal dynamics of the invasive plant species Elytrigia atherica on natural salt marshes
Authors: Veeneklaas Roos M. , Dijkema Kees S. , Hecker Norbert , Bakker Jan P. 
Published: September 2012

AbstractQuestionIn the past decades, the tall native invasive grass, Elytrigia atherica, has been increasing in frequency and dominance on salt marshes along the Wadden Sea coast. Is this rapid expansion an outcome of natural succession or is it driven by anthropogenic eutrophication resulting from atmospheric deposition?LocationSalt marshes on four back‐barrier islands, Wadden Sea on the coast of the Netherlands and Germany.MethodsWe used a combination of time series of vegetation maps and chronosequence data of four naturally developed salt marshes to address our questions. These salt marshes have not been grazed by livestock or subject to other management regimes. By comparing development within and between four different salt marshes, we were able to study the spatial and temporal dynamics of the community dominated by E. atherica on natural salt marshes.ResultsThe expansion rate of the E. atherica community was highest on young salt marshes (up to 30 yr old) with vertical accretion rates of 0.35 cm·yr−1. The rate of expansion decreased on older marshes and the direction reversed, becoming negative, on the oldest marshes (around 90 yr old), which have no vertical accretion and are under waterlogged conditions.ConclusionsThe expansion of E. atherica on natural, back‐barrier islands along the Wadden Sea coast is more influenced by the age of the salt marsh and patterns in vertical accretion of soil than by uniformly spread atmospheric deposition.
Application of a Kohonen's self‐organizing map for evaluation of long‐term changes in forest vegetation
Authors: Adamczyk Jolanta J. , Kurzac Maria , Park Young‐Seuk , Kruk Andrzej 
Published: September 2012

AbstractQuestionCan a Kohonen's self‐organizing map, which is robust to non‐linear relationships between variables and their non‐normal distributions, be effective in patterning the data on plant communities investigated with the classical Braun‐Blanquet phytosociological method based on the ordinal scale? Does the application of the self‐organizing map make it possible to obtain new information from the analysed plant communities when compared to the Braun–Blanquet method alone?LocationThe Babsk nature reserve, Central Poland.MethodsThe analysed data were derived from two separate series of phytosociological studies on plant communities dating from periods 31 yr apart (1960 and 1991). The data consisted of 24 quantitative sampling lists of plant species (=phytosociological releves). The releves were analysed by the application of a Kohonen's self‐organizing map and the indicator value (IndVal).ResultsThe transformations from Querco roboris–Pinetum to Tilio cordatae–Carpinetum betuli in the vegetation in the Babsk nature reserve over 31 yr were determined precisely. Valuable new data were also obtained on: (1) significant associations of individual plant species with the previous and recent phytocoenoses, i.e. diagnostic groups of plant species for each phytocoenosis; (2) abiotic conditions (determined retrospectively in the two study periods on the basis of ecological indicators for vascular plants); and (3) the concordance of phytocoenoses with the biotope.ConclusionsThe Kohonen's self‐organizing map method and the IndVal made it possible to efficiently identify abiotic and biotic patterns for plant communities on the basis of the data expressed in the conventional Braun‐Blanquet scale.
Limited effects of dominant species population source on community composition during community assembly
Authors: Gibson David J. , Baer Sara G. , Klopf Ryan P. , Reed Lewis K. , Wodika Ben R. , Willand Jason E. 
Published: September 2012

AbstractQuestionTo what extent do dominant species population sources and subordinate species pools affect diversity and composition of an assembling grassland community?LocationIllinois,USA.MethodsPercentage cover of all species were recorded annually in 36 1‐m2quadrats assigned to a factorial combination of dominant species population source (functionally distinct cultivar or non‐cultivar seed source) and designed species pool (three levels varying in species identity, but with equal functional group representation and richness) during the first 4 yr of community assembly in an experimental grassland restoration.ResultsUnivariate and multivariate analyses showed that individual species abundance, life form and community composition differed significantly among designed species pools, but were not strongly affected by population source of the dominant species (cultivar or non‐cultivar). There were fewerC4species in cultivar plots but only in one of three designed species pools during one of 4 yr of community assembly. The number of legume and forb species was higher in cultivar plots, but also only in one of the 4 yr of study. Other changes in species richness and abundance were solely related to successional change.ConclusionsNon‐dominant species introduced to restore plant communities strongly affects plant community composition, and composition can show fidelity to designed species pools. Only marginal or temporary effects of dominant species seed source were observed in the assembling plant community. Thus, we found no strong evidence that the source of dominant species, in this case cultivars compared to local ecotypes, has consequences for community assembly in the early stages of restoration (1–4 yr). The absence of a strong dominant species source effect may be exacerbated by the assembly of diverse plant communities, resulting in a stronger effect of subordinate species seed mixture in restoration.
Dipterocarp Biology as a Window to the Understanding of Tropical Forest Structure: Where are we Looking Now?
Authors: Ashton Peter , Kettle Chris J. 
Published: September 2012

AbstractThe dipterocarps are dominant trees across a large part of lowland Southeast Asia. These forests provide a valuable timber resource, are rich in biodiversity, and are among the most important terrestrial carbon sinks in the world. Yet, these forests are fast disappearing, often unsustainably managed and are rapidly being replaced by agricultural crops such as oil palm and other commercial plantations. Here, we provide a brief overview to this family, outline its significance, and introduce the articles of this Special Section which provides a collection of the recent advances in our understanding of the biology of this important family of tropical trees.