bluuebunny/crossref_metadata_2025_split huggingface dataset:
Distinct functional and macrostructural brain changes in Parkinson's disease and multiple system atrophy
Authors: Planetta Peggy J. , Kurani Ajay S. , Shukla Priyank , Prodoehl Janey , Corcos Daniel M. , Comella Cynthia L. , McFarland Nikolaus R. , Okun Michael S. , Vaillancourt David E. 
Published: November 2014

AbstractParkinson's disease (PD) and the parkinsonian variant of multiple system atrophy (MSAp) are neurodegenerative disorders that can be difficult to differentiate clinically. This study provides the first characterization of the patterns of task‐related functional magnetic resonance imaging (fMRI) changes across the whole brain in MSAp. We used fMRI during a precision grip force task and also performed voxel‐based morphometry (VBM) on T1‐weighted images in MSAp patients, PD patients, and healthy controls. All groups were matched on age, and the patient groups had comparable motor symptom durations and severities. There were three main findings. First, MSAp and PD had reduced fMRI activation in motor control areas, including the basal ganglia, thalamus, insula, primary sensorimotor and prefrontal cortices, and cerebellum compared with controls. Second, there were no activation differences among the disease groups in the basal ganglia, thalamus, insula, or primary sensorimotor cortices, but PD had more extensive activation deficits throughout the cerebrum compared with MSAp and controls. Third, VBM revealed reduced volume in the basal ganglia, middle and inferior cerebellar peduncles, pons, and throughout the cerebrum in MSAp compared with controls and PD, and additionally throughout the cerebellar cortex and vermis in MSAp compared with controls. Collectively, these results provide the first evidence that fMRI activation is abnormal in the basal ganglia, cerebellum, and cerebrum in MSAp, and that a key distinguishing feature between MSAp and PD is the extensive and widespread volume loss throughout the brain in MSAp. Hum Brain Mapp 36:1165–1179, 2015. © 2014 Wiley Periodicals, Inc.
The Type I BMP Receptor ACVR1/ALK2 is Required for Chondrogenesis During Development
Authors: Rigueur Diana , Brugger Sean , Anbarchian Teni , Kim Jong Kil , Lee YooJin , Lyons Karen M 
Published: November 2014

ABSTRACT

Bone morphogenetic proteins (BMPs) are crucial regulators of chondrogenesis. BMPs transduce their signals through three type I receptors: BMPR1A, BMPR1B, and ACVR1/ALK2. Fibrodysplasia ossificans progressiva (FOP), a rare disorder characterized by progressive ossification of connective tissue, is caused by an activating mutation in Acvr1 (the gene that encodes ACVR1/ALK2). However, there are few developmental defects associated with FOP. Thus, the role of ACVR1 in chondrogenesis during development is unknown. Here we report the phenotype of mice lacking ACVR1 in cartilage. Acvr1CKO mice are viable but exhibit defects in the development of cranial and axial structures. Mutants exhibit a shortened cranial base, and cervical vertebrae are hypoplastic. Acvr1CKO adult mice develop progressive kyphosis. These morphological defects were associated with decreased levels of Smad1/5 and p38 activation, and with reduced rates of chondrocyte proliferation in vertebral cartilage. We also tested whether ACVR1 exerts coordinated functions with BMPR1A and BMPR1B through analysis of double mutants. Acvr1/Bmpr1a and Acvr1/Bmpr1b mutant mice exhibited generalized perinatal lethal chondrodysplasia that was much more severe than in any of the corresponding mutant strains. These findings demonstrate that ACVR1 is required for chondrocyte proliferation and differentiation, particularly in craniofacial and axial elements, but exerts coordinated functions with both BMPR1A and BMPR1B throughout the developing endochondral skeleton. © 2014 American Society for Bone and Mineral Research.
Unexpected One‐pot Synthesis of Novel 2‐Aminopyrimidine‐4‐ones under Microwave Irradiation
Authors: Kefayati Hassan , Mirfarhadi Seyyedeh Mina , Kazemi‐Rad Reyhaneh 
Published: November 2014

AbstractOne‐pot, three‐component condensation of guanidine, ethylbenzoylacetate and various aromatic aldehydes in the presence of NaHCO3 have been investigated by microwave irradiation. The aromatic aldehydes bearing electron‐withdrawing groups undergo condensation with guanidine and ethylbenzoyl‐acetate to afford ethyl‐2‐amino‐4‐aryl‐1,4‐dihydro‐6‐phenylpyrimidine‐5‐carboxylate derivatives via Biginelli reaction. However, reaction of the aromatic aldehydes having electron‐releasing groups with guanidine and ethylbenzoylacetate did not give the corresponding dihydropyrimidines. Instead, novel 2‐amino‐5‐benzoyl‐5,6‐dihydro‐6‐arylpyrimidine‐4(3H)‐ones were obtained via an unexpected mechanism.
Vocal fold pseudocyst: A prospective study of surgical outcomes
Authors: Estes Christine , Sulica Lucian 
Published: November 2014

Objectives/HypothesisTo examine rates of lesion recurrence and functional impairment after surgical removal of vocal fold pseudocysts and determine factors predictive of recurrence.Study DesignProspective cohort study.MethodsPatients who underwent surgical removal of pseudocyst were recruited for 12 months of postoperative follow‐up. A clinical consensus cohort of 10 laryngologists blindly reviewed pre‐ and postoperative videostroboscopic examinations to determine presence of pseudocyst and concurrent clinical variables (reactive lesion, varix, paresis). Patients completed a postoperative Voice Handicap Index‐10 (VHI‐10) and follow‐up questionnaire. Results were analyzed to determine lesion recurrence rates, degree of postoperative functional impairment, and predictors of recurrence.ResultsEighteen surgeries on 17 patients (15F:2M) with pseudocyst were examined. All underwent perioperative behavioral treatment. Lesion recurrence rates were 22% (per treating laryngologist) to 33% (per clinical consensus cohort). No demographic variables proved predictive of lesion recurrence. No clinical variables predicted recurrence, although there was suggestion of paresis as a contributing factor. Postoperative VHI‐10 scores were within normal limits for all patients, but 12% of patients experienced recurrent functional impairment requiring further treatment.ConclusionMost individuals (15/17) returned to normal voice use without limitation after surgery. Some individuals appear predisposed to lesion recurrence, which occurs relatively swiftly. Demographic features and clinical variables are not predictive of recurrence. The role of glottic insufficiency related to recurrence warrants further study.Level of Evidence2b. Laryngoscope, 125:913–918, 2015
Broadband amplification of spoof surface plasmon polaritons at microwave frequencies
Authors: Zhang Hao Chi , Liu Shuo , Shen Xiaopeng , Chen Lin Hui , Li Lianming , Cui Tie Jun 
Published: November 2014

AbstractEfficient amplification of spoof surface plasmon polaritons (SPPs) is proposed at microwave frequencies by using a subwavelength‐scale amplifier. For this purpose, a special plasmonic waveguide composed of two ultrathin corrugated metallic strips on top and bottom surfaces of a dielectric substrate with mirror symmetry is presented, which is easy to integrate with the amplifier. It is shown that spoof SPPs are able to propagate on the plasmonic waveguide in broadband with low loss and strong subwavelength effect. By loading a low‐noise amplifier chip produced by the semiconductor technology, the first experiment is demonstrated to amplify spoof SPPs at microwave frequencies (from 6 to 20GHz) with high gain (around 20dB), which can be directly used as a SPP amplifier device. The features of strong field confinement, high efficiency, broadband operation, and significant amplification of the spoof SPPs may advance a big step towards other active SPP components and integrated circuits.
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A torque balance measurement of anisotropy of the magnetic susceptibility in white matter
Authors: van Gelderen Peter , Mandelkow Hendrik , de Zwart Jacco A. , Duyn Jeff H. 
Published: November 2014

PurposeRecent MRI studies have suggested that the magnetic susceptibility of white matter (WM) in the human brain is anisotropic, providing a new contrast mechanism for the visualization of fiber bundles and allowing the extraction of cellular compartment‐specific information. This study provides an independent confirmation and quantification of this anisotropy.MethodsAnisotropic magnetic susceptibility results in a torque exerted on WM when placed in a uniform magnetic field, tending to align the WM fibers with the field. To quantify the effect, excised spinal cord samples were placed in a torque balance inside the magnet of a 7 T MRI system and the magnetic torque was measured as function of orientation.ResultsAll tissue samples (n = 5) showed orienting effects, confirming the presence of anisotropic susceptibility. Analysis of the magnetic torque resulted in reproducible values for the WM volume anisotropy that ranged from 13.6 to 19.2 ppb.ConclusionThe independently determined anisotropy values confirm estimates inferred from MRI experiments and validate the use of anisotropy to extract novel information about brain fiber structure and myelination. Magn Reson Med 74:1388–1396, 2015. © 2014 Wiley Periodicals, Inc.
Inhibition of Insulin‐Regulated Aminopeptidase (IRAP) by Arylsulfonamides
Authors: Borhade Sanjay R. , Rosenström Ulrika , Sävmarker Jonas , Lundbäck Thomas , Jenmalm-Jensen Annika , Sigmundsson Kristmundur , Axelsson Hanna , Svensson Fredrik , Konda Vivek , Sköld Christian , Larhed Mats , Hallberg Mathias 
Published: November 2014

AbstractThe inhibition of insulin‐regulated aminopeptidase (IRAP, EC 3.4.11.3) by angiotenesin IV is known to improve memory and learning in rats. Screening 10 500 low‐molecular‐weight compounds in an enzyme inhibition assay with IRAP from Chinese Hamster Ovary (CHO) cells provided an arylsulfonamide (N‐(3‐(1H‐tetrazol‐5‐yl)phenyl)‐4‐bromo‐5‐chlorothiophene‐2‐sulfonamide), comprising a tetrazole in the meta position of the aromatic ring, as a hit. Analogues of this hit were synthesized, and their inhibitory capacities were determined. A small structure–activity relationship study revealed that the sulfonamide function and the tetrazole ring are crucial for IRAP inhibition. The inhibitors exhibited a moderate inhibitory potency with an IC50=1.1±0.5 μm for the best inhibitor in the series. Further optimization of this new class of IRAP inhibitors is required to make them attractive as research tools and as potential cognitive enhancers.
The Effect of Pore Morphology on Hot Spot Temperature
Authors: Levesque George Arthur , Vitello Peter 
Published: November 2014

AbstractComposite explosives contain pores that collapse under shock wave interaction generating localized regions of heat known to be important in the initiation of high explosives. Understanding pore collapse under shock loading is essential to create predictive reactive flow models to simulate the initiation process. While spherical pore collapse has been thoroughly simulated, other geometries have been relatively neglected. Simulating microoscale hot spot nucleation, we analyze the effect of pore morphology on the post‐shock hot spot temperature. Several pore morphologies that yield higher temperatures than the spherical case are revealed and discussed. This work performed under the auspices of the U.S. Department of Energy by Lawrence Livermore National Laboratory under Contract DE‐AC52‐07NA27344.
Glucose tolerance is associated with differential expression of microRNAs in skeletal muscle: results from studies of twins with and without type 2 diabetes
Authors: Bork-Jensen Jette , Scheele Camilla , Christophersen Daniel V. , Nilsson Emma , Friedrichsen Martin , Fernandez-Twinn Denise S. , Grunnet Louise G. , Litman Thomas , Holmstrøm Kim , Vind Birgitte , Højlund Kurt , Beck-Nielsen Henning , Wojtaszewski Jørgen , Ozanne Susan E. , Pedersen Bente K. , Poulsen Pernille , Vaag Allan 
Published: November 2014

AbstractAims/hypothesisWe aimed to identify microRNAs (miRNAs) associated with type 2 diabetes and risk of developing the disease in skeletal muscle biopsies from phenotypically well-characterised twins.MethodsWe measured muscle miRNA levels in monozygotic (MZ) twins discordant for type 2 diabetes using arrays. Further investigations of selected miRNAs included target prediction, pathway analysis, silencing in cells and association analyses in a separate cohort of 164 non-diabetic MZ and dizygotic twins. The effects of elevated glucose and insulin levels on miRNA expression were examined, and the effect of low birthweight (LBW) was studied in rats.ResultsWe identified 20 miRNAs that were downregulated in MZ twins with diabetes compared with their non-diabetic co-twins. Differences for members of the miR-15 family (miR-15b and miR-16) were the most statistically significant, and these miRNAs were predicted to influence insulin signalling. Indeed, miR-15b and miR-16 levels were associated with levels of key insulin signalling proteins, miR-15b was associated with the insulin receptor in non-diabetic twins and knockdown of miR-15b/miR-16 in myocytes changed the levels of insulin signalling proteins. LBW in twins and undernutrition during pregnancy in rats were, in contrast to overt type 2 diabetes, associated with increased expression of miR-15b and/or miR-16. Elevated glucose and insulin suppressed miR-16 expression in vitro.ConclusionsType 2 diabetes is associated with non-genetic downregulation of several miRNAs in skeletal muscle including miR-15b and miR-16, potentially targeting insulin signalling. The paradoxical findings in twins with overt diabetes and twins at increased risk of the disease underscore the complexity of the regulation of muscle insulin signalling in glucose homeostasis.
Use of a 90° Drill and Screwdriver for Rib Fracture Stabilization
Authors: Nickerson Terry P. , Kim Brian D. , Zielinski Martin D. , Jenkins Donald , Schiller Henry J. 
Published: November 2014

AbstractBackgroundRib fracture stabilization has become a more accepted practice although stabilization of the most cephalad ribs presents a unique challenge. We present our experience with use of a 90° drill and screwdriver to bridge these difficult rib fractures.MethodsThis retrospective review included patients who underwent rib fracture stabilization from August 1, 2009, through September 30, 2012. Patients were divided into two groups: those whose procedure used the 90° device and those that did not. Data were compared using standard statistical analysis and reported as percentages and medians [interquartile ranges]. P values <0.05 were considered significant.ResultsWe identified 89 patients: 29 (33 %) had 90° devices used and 60 (67 %) did not. There were no differences between groups in age, sex, Trauma‐Related Injury Severity Score, the presence of flail chest, occurrence of pneumonia, and intensive care unit or hospital length of stay. The Injury Severity Score was higher in the 90° group (22 vs. 16; P = 0.03). The highest rib stabilized was different between the 2 groups (3 [2–5] vs. 5 [2–9]; P = 0.001), with more third rib stabilizations in the 90° group (38 vs. 20 %; P = 0.04) as well as more total number of ribs fixed (5 vs. 4; P = 0.001). There was no difference in operative time between the 2 groups.ConclusionsThe surgical reach for rib fracture stabilization has been extended with use of a 90° drill and screwdriver. High fractures under the scapula where access is technically challenging can be stabilized without prolonging operative times.
Surgical Cure of Primary Hyperparathyroidism Ameliorates Gastroesophageal Reflux Symptoms
Authors: Norman James , Politz Douglas , Lopez Jose , Boone Deva , Stojadinovic Alexander 
Published: November 2014

AbstractObjectiveGastroesophageal reflux disease (GERD) symptoms are commonly reported in primary hyperparathyroidism (pHPT). Although a calcium‐mediated cause‐and‐effect relationship has been suggested, it remains unknown if parathyroidectomy improves GERD symptoms.MethodsOver a 22‐month period, 1,175 (39 %) of 3,000 consecutive adult patients with pHPT and symptomatic GERD (on prescription reflux medications daily for ≥2 years) undergoing parathyroidectomy were entered into a prospective study. Standardized Frequency Scale for Symptoms of GERD (FSSG) questionnaire was used to assess symptoms before, 1 and 2 years after parathyroidectomy.ResultsDaily prescription medication was used by 81 %, while 19 % used daily non‐prescription drugs, both for a mean of 2.9 ± 0.7 years. GERD symptoms improved (26 %) or resolved completely (36 %) in 62 % of patients (p < 0.0001 vs. preoperative baseline) 1 year after parathyroidectomy. Prescription medications for GERD decreased from 81 % of enrolled patients to 26 % (p < 0.0001) 12 months postoperatively, with 39 % having complete symptom relief and taking no medications (p < 0.0001). Daily use of prescription GERD medications decreased to occasional over‐the‐counter drug use in 35 % after parathyroidectomy (p < 0.0001). Mean FSSG scores decreased significantly postoperatively (pre‐op: 18.0 ± 8.0 vs. post‐op: 10.0 ± 5.0; p < 0.0001), with significant improvements in all 12 FSSG categories, including motility (pre‐op: 7.3 ± 3.0 vs. post‐op: 4.4 ± 3.0; p < 0.0001) and acid reflux symptoms (pre‐op: 10.8 ± 5.0 vs. post‐op: 5.9 ± 4.0; p < 0.0001). Symptomatic improvements were durable 2 years after parathyroidectomy.ConclusionSymptomatic GERD is common in pHPT. Parathyroidectomy provides significant, durable relief of both motility and acid reflux symptoms allowing discontinuation of prescription drug use for GERD in most (74 %) patients providing yet another indication for parathyroidectomy in pHPT.
Application of optimization heuristics for complex astronomical object model identification
Authors: Mojžíš František , Kukal Jaromír , Švihlík Jan 
Published: November 2014

AbstractDetection and localization of astronomical objects are two of the most fundamental topics in astronomical science where localization uses detection results. Object localization is based on modeling of point spread function and estimation of its parameters. Commonly used models as Gauss or Moffat in objects localization provide good approximation of analyzed objects but cannot be sufficient in the case of exact applications such as object energy estimation. Thus the use of sophisticated models is upon the place. One of the key roles plays also the way of the objective function estimation. The least square method is often used, but it expects data with normal distribution, thus there is a question of a maximum likelihood method application. Another important factor of presented problem is choice of the right optimization method. Classical methods for objective function minimization usually require a good initial estimate for all parameters and differentiation of the objective function with respect to model parameters. The results indicated that stochastic methods such as simulated annealing or harmony search achieved better results than the classical optimization methods.
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview
Authors: Garcia‐Cazorla Àngels , Mochel Fanny , Lamari Foudil , Saudubray Jean‐Marie 
Published: November 2014

AbstractOver one hundred diseases related to inherited defects of complex lipids synthesis and remodeling are now reported. Most of them were described within the last 5 years. New descriptions and phenotypes are expanding rapidly. While the associated clinical phenotype is currently difficult to outline, with only a few patients identified, it appears that all organs and systems may be affected. The main clinical presentations can be divided into (1) Diseases affecting the central and peripheral nervous system. Complex lipid synthesis disorders produce prominent motor manifestations due to upper and/or lower motoneuron degeneration. Motor signs are often complex, associated with other neurological and extra‐neurological signs. Three neurological phenotypes, spastic paraparesis, neurodegeneration with brain iron accumulation and peripheral neuropathies, deserve special attention. Many apparently well clinically defined syndromes are not distinct entities, but rather clusters on a continuous spectrum, like for the PNPLA6‐associated diseases, extending from Boucher‐Neuhauser syndrome via Gordon Holmes syndrome to spastic ataxia and pure hereditary spastic paraplegia; (2) Muscular/cardiac presentations; (3) Skin symptoms mostly represented by syndromic (neurocutaneous) and non syndromic ichthyosis; (4) Retinal dystrophies with syndromic and non syndromic retinitis pigmentosa, Leber congenital amaurosis, cone rod dystrophy, Stargardt disease; (5) Congenital bone dysplasia and segmental overgrowth disorders with congenital lipomatosis; (6) Liver presentations characterized mainly by transient neonatal cholestatic jaundice and non alcoholic liver steatosis with hypertriglyceridemia; and (7) Renal and immune presentations. Lipidomics and molecular functional studies could help to elucidate the mechanism(s) of dominant versus recessive inheritance observed for the same gene in a growing number of these disorders.
Congenital Hypothyroidism Long‐Term Follow‐up Project: Navigating the Rough Waters of a Multi‐Center, Multi‐State Public Health Project
Authors: Wintergerst Kupper , Gembel Gina , Kreipe Tracey , Zeller Patrick , Eugster Erica , Young Bill , Andruszewski Karen , Kleyn Mary , Cunningham Troi , Fawbush Sandy , Vanderburg Nancy , Sockalosky Joe , Menon Ram , Linard Sharon , Hoffman Gary , Gorman Lisa 
Published: November 2014

AbstractThe Region 4 Midwest Genetics Collaborative, made up of seven regional states (Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, and Wisconsin), brought together pediatric endocrinologists, state laboratory experts, public health follow‐up specialists, and parents of children with congenital hypothyroidism (CH) to identify the three‐year follow‐up management and education patterns of primary care clinicians and pediatric endocrinologists in the care of children diagnosed with CH by state newborn screening (NBS) programs. Among a number of challenges, each state had different NBS methods, data systems, public health laws, and institutional review board (IRB) requirements. Furthermore, the diagnosis of CH was complicated by the timing of the NBS sample, the gestational age, weight, and co‐morbidities at delivery. There were 409 children with CH identified through NBS in 2007 in the seven state region. The clinician of record and the parents of these children were invited to participate in a voluntary survey. Approximately 64 % of clinician surveys were collected with responses to questions relating to treatment, monitoring practices, educational resources, genetic counseling, and services provided to children with confirmed CH and their families. Nearly one‐quarter (24 %) of parents surveyed responded to questions relating to treatment, education, genetic counseling, resources, and services they received or would like to receive. De‐identified data from six of the seven states were compiled for analysis, with one state being unable to obtain IRB approval within the study timeline. The data from this collaborative effort will improve state follow‐up programs and aid in developing three‐year follow‐up guidelines for children diagnosed with CH. To aid in the facilitation of similar public health studies, this manuscript highlights the challenges faced, and focuses on the pathway to a successful multi‐state public health endeavor.