bluuebunny/crossref_metadata_2025_split huggingface dataset:
Antiphospholipid syndrome: Laboratory testing and diagnostic strategies
Authors: Ortel Thomas L. 
Published: March 2012

AbstractThe antiphospholipid syndrome (APS) is diagnosed in patients with recurrent thromboembolic events and/or pregnancy loss in the presence of persistent laboratory evidence for antiphospholipid antibodies. Diagnostic tests for the detection of antiphospholipid antibodies include laboratory assays that detect anticardiolipin antibodies, lupus anticoagulants, and anti‐β2‐glycoprotein I antibodies. These assays have their origins beginning >60 years ago, with the identification of the biologic false positive test for syphilis, the observation of “circulating anticoagulants” in certain patients with systemic lupus erythematosus, the identification of cardiolipin as a key component in the serologic test for syphilis, and the recognition and characterization of a “cofactor” for antibody binding to phospholipids. Although these assays have been used clinically for many years, there are still problems with the accurate diagnosis of patients with this syndrome. For example, lupus anticoagulant testing can be difficult to interpret in patients receiving anticoagulant therapy, but most patients with a thromboembolic event will already be anticoagulated before the decision to perform the tests has been made. In addition to understanding limitations of the assays, clinicians also need to be aware of which patients should be tested and not obtain testing on patients unlikely to have APS. New tests and diagnostic strategies are in various stages of development and should help improve our ability to accurately diagnose this important clinical disorder. Am. J. Hematol., 2012. © 2012 Wiley Periodicals, Inc.
Guidance on the emergent reversal of oral thrombin and factor Xa inhibitors
Authors: Kaatz Scott , Kouides Peter A. , Garcia David A. , Spyropolous Alex C. , Crowther Mark , Douketis Jim D. , Chan Anthony K. C. , James Andra , Moll Stephan , Ortel Thomas L. , Van Cott Elizabeth M. , Ansell Jack 
Published: March 2012

AbstractThe new oral anticoagulants dabigatran, rivaroxaban and apixaban have advantages over warfarin which include no need for laboratory monitoring, less drug–drug interactions and less food‐drug interactions. However, there is no established antidote for patients who are bleeding or require emergent surgery and there is a paucity of evidence to guide the clinical care during these situations. Members of thrombosis and anticoagulation groups participating in the Thrombosis and Hemostasis Summit of North America formulated expert opinion guidance for reversing the anticoagulant effect of the new oral anticoagulants and suggest: routine supportive care, activated charcoal if drug ingestion was within a couple of hours, and hemodialysis if feasible for dabigatran. Also, the pros and cons of the possible use of four factor prothrombin complex concentrate are discussed. Am. J. Hematol. 2012. © 2012 Wiley Periodicals, Inc.
Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: Prospective case study
Authors: Blake Kim D. , MacCuspie Jillian , Corsten Gerard 
Published: March 2012

AbstractCHARGE syndrome is a genetic disorder caused by a mutation in the CHD7 gene on chromosome 8. Major clinical diagnostic criteria for this heterogeneous disorder include ocular coloboma, choanal atresia/stenosis, characteristic external and internal ear abnormalities, and cranial nerve abnormalities. Patients with CHARGE syndrome often have dysphagia and are at high risk for aspiration of both upper and lower gastrointestinal secretions. The following case‐report describes the use of Botulinum toxin A (Botox) to reduce excess salivary secretions in a ventilator dependant infant who would have required a tracheotomy. Thereafter, Botox was used regularly (4–5 months) to decrease the salivary secretions. This case‐report is unique in that it describes the intermittent and prospective use of Botox to reduce excess salivary secretions and prevent the resulting aspiration‐related complications in an infant with CHARGE syndrome. © 2012 Wiley Periodicals, Inc.
Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations
Authors: Haddad Véronique , Aboura Azzedine , Tosca Lucie , Guediche Narjes , Mas Anne‐Elisabeth , L'Herminé Aurore Coulomb , Druart Luc , Picone Olivier , Brisset Sophie , Tachdjian Gérard 
Published: March 2012

AbstractSmall supernumerary marker chromosome (sSMC) lacking alpha satellite DNA or endogenous centromere regions are rare and contain fully functional centromeres, called neocentromeres. We report on a woman with a 14‐week gestation pregnancy with a cystic hygroma and cerebellar hypoplasia at ultrasound examination. Cytogenetic studies showed a karyotype 47,XY,+mar dn. This sSMC was observed in chorionic villi, lung, and muscle tissue. Array Comparative Genomic Hybridization showed a gain from 13q31.1 to 13qter region. Fluorescent in situ hybridization with pan alpha satellite probe and probes specific for chromosome 13 showed a marker corresponding to an inversion duplication of the 13q distal chromosomal region without alpha satellite DNA sequence, suggesting the presence of a neocentromere. Examination of the fetus showed dysmorphic features, cystic cervical hygroma, postaxial polydactyly of the right hand and left foot with short fingers, malrotation of the gut, and a micropenis with hypospadias. Genotype–phenotype correlation in tetrasomy 13q is discussed according to the four 13q chromosomal breakpoints reported (13q32, 13q31, 13q21, 13q14) for chromosome 13 supernumerary markers. © 2012 Wiley Periodicals, Inc.
A novel maternally‐derived insertional translocation resulting in partial trisomy 4q13.2–q22.1 with complex translocation t(8;20) in a family with intellectual disability
Authors: Assawamakin Anunchai , Wattanasirichaigoon Duangrurdee , Tocharoentanaphol Chintana , Waeteekul Supaporn , Tansatit Montakarn , Thongnoppakhun Wanna , Limwongse Chanin 
Published: March 2012

AbstractWe characterized the chromosomal aberration in family with intellectual disability, including two affected children and their affected mother. Initial standard karyotypes of the three individuals showed an apparently balanced translocation of chromosomes 8 and 20. Using molecular cytogenetic techniques, we observed complex structural chromosomal aberration comprising of reciprocal translocation between chromosomes 8 and 20 with pericentric inversion (8p11.12q22.3) and insertion of chromosome 4 segments into both der(8) and der(20). In particular, the insertion of chromosome 4 was complex. Two segments (4q13.2–q13.3 and 4q21.21–q22.1) were inserted into the der(8)t(8;20) breakpoint and one segment (4q13.3–q21.21) into the der(20)t(8;20) breakpoint. Both children inherited two normal chromosomes 4 from their parents and the der(8) and der(20) from the mother, resulting in partial trisomy of 4q13.2–q22.1. Interestingly, the mother, in addition to the same complex insertions and inversion, was founded to have a deletion of 4q13.2–q22.1 in one of her chromosomes 4, yielding no genetic imbalance but with potential disruption of intellectual dysfunction‐related gene(s) at the breakpoints as the cause of her intellectual impairment. This family is the third case report of an insertional translocation mechanism causing partial trisomy 4q syndrome. Our study demonstrates that an insertion of an extra chromosomal segment, not primarily involving in translocation breakpoints, which results in partial trisomy, can be an unapparent cause of the abnormal phenotypes. © 2012 Wiley Periodicals, Inc.
Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations
Authors: Magini Pamela , Monica Matteo Della , Uzielli Maria Luisa Giovannucci , Mongelli Patrizia , Scarselli Gloria , Gambineri Eleonora , Scarano Gioacchino , Seri Marco 
Published: March 2012

AbstractBohring–Opitz syndrome (BOS) is a rare condition characterized by facial anomalies, multiple malformations, failure to thrive and severe intellectual disabilities. Recently, the cause was identified on the basis of de novo heterozygous mutations in the ASXL1 gene. We report on two novel cases carrying two previously undescribed mutations (c.2407_2411del5 [p.Q803TfsX17] and c.2893C>T [p.R965X]). These new data further support ASXL1 as cause of BOS and may contribute to a more precise definition of the phenotype caused by the disruption of this gene. © 2012 Wiley Periodicals, Inc.
Impact of the Reelin signaling cascade (Ligands–Receptors–Adaptor Complex) on cognition in schizophrenia
Authors: Verbrugghe Phebe , Bouwer Sonja , Wiltshire Steven , Carter Kim , Chandler David , Cooper Matthew , Morar Bharti , Razif Muhammad F.M. , Henders Anjali , Badcock Johanna C. , Dragovic Milan , Carr Vaughan , Almeida Osvaldo P. , Flicker Leon , Montgomery Grant , Jablensky Assen , Kalaydjieva Luba 
Published: March 2012

AbstractOur previous neurocognitive studies of schizophrenia outlined two clusters of affected subjects—cognitively spared (CS) and cognitive deficit (CD), the latter's characteristics pointing to developmental origins and impaired synaptic plasticity. Here we investigate the contribution of polymorphisms in major regulators of these processes to susceptibility to schizophrenia and to CD in patients. We examine variation in genes encoding proteins at the gateway of Reelin signaling: ligands RELN and APOE, their common receptors APOER2 and VLDLR, and adaptor DAB1. Association analysis with disease outcome and cognitive performance in the Western Australian Family Study of Schizophrenia (WAFSS) was followed by replication analysis in the Australian Schizophrenia Research Bank (ASRB) and in the Health in Men Study (HIMS) of normal aging males. In the WAFSS sample, we observed significant association of APOE, APOER2, VLDLR, and DAB1 SNPs with disease outcome in the case–control and CD–control datasets, and with pre‐morbid intelligence and verbal memory in cases. HIMS replication analysis supported rs439401 (APOE regulatory region), and rs2297660 and rs3737983 (APOER2), with an effect on memory performance in normal aging subjects consistent with the findings in schizophrenia cases. APOER2 gene expression analysis revealed lower transcript levels in lymphoblastoid cells from cognitively impaired schizophrenia patients of the alternatively spliced exon 19, mediating Reelin signaling and synaptic plasticity in the adult brain. ASRB replication analysis produced marginally significant results, possibly reflecting a recruitment strategy biased toward CS patients. The data suggest a contribution of neurodevelopmental/synaptic plasticity genes to cognitive impairment in schizophrenia. © 2012 Wiley Periodicals, Inc.
Structured histopathology profiling of chronic rhinosinusitis in routine practice
Authors: Snidvongs Kornkiat , Lam Matthew , Sacks Raymond , Earls Peter , Kalish Larry , Phillips P. Seamus , Pratt Eleanor , Harvey Richard J. 
Published: March 2012

AbstractBackground:Tissue eosinophilia in chronic rhinosinusitis (CRS) is a marker of inflammatory disorders recalcitrant to surgical intervention. Eosinophilic chronic rhinosinusitis (ECRS) is traditionally associated with asthma, polyps, aspirin sensitivity, high serum eosinophilia, and elevated immunoglobulin E (IgE). However, patients with ECRS may not present with these associations and there is a need to establish other surrogate markers. The objective of the study was to determine the associations between the histopathology, serology, and clinical characteristics in CRS patients.Methods:A cross‐sectional study was undertaken of CRS patients undergoing surgery. Tissue eosinophilia and other pathological features were compared to traditional surrogate features of ECRS, as well as to symptoms, and to radiologic and endoscopic scores.Results:A total of 51 patients were assessed (47% female, mean age 46.6 ± 4.1 years). High tissue eosinophilia (>10 per high‐power field [HPF]) was more prominent in polyps (84%) (χ2 = 25.76; p < 0.01) but was also seen in nonpolyp patients (19%). Asthma was not associated with high tissue eosinophilia (p = 0.60), with 43% of nonasthmatics demonstrating high tissue eosinophilia. Serum eosinophilia predicted high tissue eosinophilia at >0.30 × 109/L or 4.4% of leukocytes (sensitivity 52%, specificity 87%, receiver operating characteristic [ROC] p = 0.001), with low negative predictive value. Serum IgE was nonpredictive (p = 0.08).Conclusion:The diagnosis of ECRS has unique prognostic implications. Traditional features of the ECRS phenotype are not necessarily reliable markers for the presence of tissue eosinophilia. Serum eosinophilia may be a good surrogate marker of tissue eosinophilia but of limited use. The routine use of structured histopathology reporting in CRS is suggested, to allow for the diagnosis of ECRS and to identify other prognostic markers. © 2012 ARS‐AAOA, LLC.
Heteroditope Rezeptoren zur Ionenpaarerkennung
Authors: McConnell Anna J. , Beer Paul D. 
Published: March 2012

AbstractBei der Ionenpaarerkennung handelt es sich um ein junges Forschungsgebiet, das aus der Anionen‐ und Kationen‐Koordinationschemie hervorgegangen ist. Spezielle Designtypen heteroditoper Ionenpaarrezeptoren sowie die Komplexität der Ionenpaarbindung werden zur Illustration der Schlüsselkonzepte, z. B. der Kooperativität, beschrieben. Die Bedeutung dieses Forschungsgebiets wird durch eine Vielzahl möglicher Anwendungen von Ionenpaarrezeptoren widergespiegelt, einschließlich der Anwendung als Membrantransporter, als Agentien zur Solubilisierung von Salzen und als Sensoren.
Heteroditopic Receptors for Ion‐Pair Recognition
Authors: McConnell Anna J. , Beer Paul D. 
Published: March 2012

AbstractIon‐pair recognition is a new field of research emerging from cation and anion coordination chemistry. Specific types of heteroditopic receptor designs for ion pairs and the complexity of ion‐pair binding are discussed to illustrate key concepts such as cooperativity. The importance of this area of research is reflected by the wide variety of potential applications of ion‐pair receptors, including applications as membrane transport and salt solubilization agents and sensors.
Robust Absolute Stability Analysis of Multiple Time‐Delay Lur'e Systems With Parametric Uncertainties
Authors: Kazemy A. , Farrokhi M. 
Published: March 2012

AbstractThe problem of robust absolute stability for time‐delay Lur'e systems with parametric uncertainties is investigated in this paper. The nonlinear part of the Lur'e system is assumed to be both time‐invariant and time‐varying. The structure of uncertainty is a general case that includes norm‐bounded uncertainty. Based on the Lyapunov–Krasovskii stability theory, some delay‐dependent sufficient conditions for the robust absolute stability of the Lur'e system will be derived and expressed in the form of linear matrix inequalities (LMIs). These conditions reduce the conservativeness in computing the upper bound of the maximum allowed delay in many cases. Numerical examples are given to show that the proposed stability criteria are less conservative than those reported in the established literatures.
Backstepping Robust H∞ Control for a Class of Uncertain Switched Nonlinear Systems Under Arbitrary Switchings
Authors: Ma Ruicheng , Dimirovski Georgi M. , Zhao Jun 
Published: March 2012

AbstractThis paper addresses global robust H
∞ control for a class of switched nonlinear systems with uncertainty under arbitrary switchings. Each subsystem is in lower triangular form. The uncertainties are assumed to be in a known compact set. The backstepping design technique is used to design a smooth state feedback controller that renders the associated closed‐loop switched system globally robustly asymptotically stable and imposes a pre‐specified upper bound to the L
2‐gain under arbitrary switchings. An example is provided to demonstrate the efficacy of the design approach.
Duality Properties of Linear Impulsive Systems
Authors: Lawrence Douglas A. 
Published: March 2012

AbstractReachability and observability properties of linear switched, impulsive, and switched/impulsive systems have received a great deal of attention over the past decade. The purpose of this paper is to rigorously establish a duality between reachability and observability for linear impulsive systems both in direct system‐theoretic terms as well as in geometric terms. These connections are established using an appropriately defined adjoint system associated with the original impulsive system. The duality between reachability and observability is then used to leverage recent reachability results in order to tighten the relationship between the set of unobservable states and a certain invariant subspace.
Chattering Free Sliding Mode Control for Uncertain Discrete Time‐Delay Singular Systems
Authors: Li Jian‐ning , Su Hongye , Zhang Yibo , Wu Zheng‐guang , Chu Jian 
Published: March 2012

AbstractThe problem of chattering free sliding mode control for a class of uncertain discrete singular systems with state delay is investigated in this paper. As a component of the solution, a new least squares support vector machine (LS‐SVM) reaching law is proposed. In terms of linear matrix inequalities, a delay‐dependent condition for sliding mode dynamics to be regular, causal, and asymptotically stable is established, and the chattering problem that appears in traditional variable structure systems is eliminated. Numerical examples are provided to demonstrate the applicability of the proposed methods.
State Observation for Nonlinear Switched Systems Using Nonhomogeneous High‐Order Sliding Mode Observers
Authors: Davila J. , Ríos H. , Fridman L. 
Published: March 2012

AbstractThis article presents the problem of finite time reconstruction of the continuous state and operating mode for a class of nonlinear switched systems. The proposed method is based on the nonhomogeneous high‐order sliding mode approach. It is able to reconstruct both the state and operating mode of a switched system based only on its measurable outputs and through the use of the features of the equivalent output injection. The observability is derived in terms of certain geometric restrictions on the vector fields of the switched system that require the availability of all its modes. The method does not require the system to be transformed into any normal form. Simulation results support the proposed method.
Analysis of 11‐nor‐Δ9‐tetrahydrocannabinol‐9‐carboxylic acid and its glucuronide in urine by capillary electrophoresis/mass spectrometry
Authors: Iwamuro Yoshiaki , Iio‐Ishimaru Reiko , Chinaka Satoshi , Takayama Nariaki , Hayakawa Kazuichi 
Published: March 2012

ABSTRACTΔ9‐Tetrahydrocannabinol is the primary psychoactive component in cannabis, one of the most commonly used illicit drugs in the world. This paper describes a simple and rapid method for direct analysis of major metabolites of Δ9‐tetrahydrocannabinol; 11‐nor‐Δ9‐tetrahydrocannabinol‐9‐carboxylic acid and its glucuronide in urine by capillary electrophoresis/mass spectrometry. The only pretreatment needed for a urine sample was dilution with methanol containing an internal standard and centrifugation. Electrophoresis was carried out in an untreated fused‐silica capillary (50 µm i.d. × 85 cm) filled with 40 m m ammonium formate (pH 6.4). An analysis could be completed within 10 min. For both compounds, the assay was linear over the range 0.1 − 10 µg/mL in urine with correlation coefficients (r2) > 0.99 and the limit of detection was 0.5 pg (10 nL injection). The detection yields and reproducibilities were determined at three different concentrations (0.1, 0.5 and 2 µg/mL in urine). The mean detection yields were 60 − 99%. The intra‐ and inter‐day relative standard deviations of migration times were 0.063 − 0.19 and 0.18 − 0.36%, and those of peak areas were 4.2 − 18 and 5.9 − 25%, respectively. The proposed method successfully analyzed the urine samples of cannabis users. Copyright © 2012 John Wiley & Sons, Ltd.
Determination of gemifloxacin on dried blood spots by hydrophilic interaction liquid chromatography with fluorescence detector: application to pharmacokinetics in rats
Authors: Nageswara Rao R. , Naidu Ch. Gangu , Guru Prasad K. , Padiya Raju , Agwane Sachin B. 
Published: March 2012

ABSTRACTA highly selective, sensitive and rapid hydrophilic liquid interaction chromatographic method was developed and validated for determination of gemifloxacin on dried blood spots. The chromatographic separation was achieved on a reversed‐phase zwitterionic hydrophilic interaction liquid chromatographic ZIC®HILIC‐C18 (4.6 × 100 mm; 5 µm) column using acetonitrile–10 mM ammonium acetate (pH 3.5; 80:20, v/v) as a mobile phase in an isocratic elution mode at a flow rate 0.6 mL/min at 27 °C. An on‐line fluorescence detector set at excitation and emission wavelengths of 269 and 393 nm, respectively was used for monitoring column eluents. Ciprofloxacin was used as an internal standard. The method was validated for accuracy, precision, linearity and selectivity by design of experiments following ICH guidelines. The assay exhibited a linear range of 25–5000 ng/mL for gemifloxacin on dried blood spots. The lower limit of detection was found to be 10 ng/mL. The intra‐ and inter‐assay coefficients of variation did not exceed 7.4% deviation of the nominal concentration. The recovery of GFX from dried blood spots was >95.0% and its stability was excellent with no evidence of degradation during sample processing for at least 3 months storage in a freezer at −20 °C. Copyright © 2012 John Wiley & Sons, Ltd.
Conversations in cardiology: Using new media to transmit timely medical knowledge. How do you assess the left main stenosis with FFR and IVUS in a patient with multivessel CAD?
Authors: Kern Morton J. 
Published: March 2012

AbstractConversations in Cardiology is a new use of modern email communication to facilitate transfer of medical knowledge. In this Conversation in Cardiology, Dr. Barry Uretsky of Little Rock Arkansas asked a question about a patient with left main narrowing and the assessment by FFR and IVUS and several well known expert interventionalists address the clinical dilemma. Their answers and rebuttals are reflective of areas of agreement and disagreement and demonstrate the educational value of this format from expert opinion on problems not readily addressed by reference books or formal data studies. © 2012 Wiley Periodicals, Inc.