bluuebunny/crossref_metadata_2025_split huggingface dataset:
Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience
Authors: Bali Deeksha S. , Goldstein Jennifer L. , Banugaria Suhrad , Dai Jian , Mackey Joanne , Rehder Catherine , Kishnani Priya S. 
Published: January 2012

AbstractEnzyme replacement therapy (ERT) for Pompe disease using recombinant acid alpha‐glucosidase (rhGAA) has resulted in increased survival although the clinical response is variable. Cross‐reactive immunological material (CRIM)‐negative status has been recognized as a poor prognostic factor. CRIM‐negative patients make no GAA protein and develop sustained high antibody titers to ERT that render the treatment ineffective. Antibody titers are generally low for the majority of CRIM‐positive patients and there is typically a better clinical outcome. Because immunomodulation has been found to be most effective in CRIM‐negative patients prior to, or shortly after, initiation of ERT, knowledge of CRIM status is important before ERT is begun. We have analyzed 243 patients with infantile Pompe disease using a Western blot method for determining CRIM status and using cultured skin fibroblasts. Sixty‐one out of 243 (25.1%) patients tested from various ethnic backgrounds were found to be CRIM‐negative. We then correlated the CRIM results with GAA gene mutations where available (52 CRIM‐negative and 88 CRIM‐positive patients). We found that, in most cases, CRIM status can be predicted from GAA mutations, potentially circumventing the need for invasive skin biopsy and time wasted in culturing cells in the future. Continued studies in this area will help to increase the power of GAA gene mutations in predicting CRIM status as well as possibly identifying CRIM‐positive patients who are at risk for developing high antibody titers. © 2012 Wiley Periodicals, Inc.
Infantile Pompe disease on ERT—Update on clinical presentation, musculoskeletal management, and exercise considerations
Authors: Case Laura E. , Beckemeyer Alexandra A. , Kishnani Priya S. 
Published: January 2012

AbstractEnzyme replacement therapy (ERT) with alglucosidase alpha, approved by the FDA in 2006, has expanded possibilities for individuals with Pompe disease (glycogen storage disease type II, GSDII, or acid maltase deficiency). Children with infantile Pompe disease are surviving beyond infancy, some achieving independent walking and functional levels never before possible. Individuals with late‐onset Pompe disease are experiencing motor and respiratory improvement and/or stabilization with slower progression of impairments. A new phenotype is emerging for those with infantile Pompe disease treated with ERT. This new phenotype appears to be distinct from the late‐onset phenotype rather than a shift from infantile to late‐onset phenotype that might be expected from a simple diminution of symptoms with ERT. Questions arise regarding the etiology of the distinct distribution of weakness in this new phenotype, with increasing questions regarding exercise and musculoskeletal management. Answers require an increased understanding of the muscle pathology in Pompe disease, how that muscle pathology may be impacted by ERT, and the potential impact of, and need for, other clinical interventions. This article reviews the current state of knowledge regarding the pathology of muscle involvement in Pompe disease and the potential change in muscle pathology with ERT; the newly emerging musculoskeletal and gross motor phenotype of infantile Pompe disease treated with ERT; updated recommendations regarding musculoskeletal management in Pompe disease, particularly in children now surviving longer with residual weakness impacting development and integrity of the musculoskeletal system; and the potential impact and role of exercise in infantile Pompe survivors treated with ERT. © 2012 Wiley Periodicals, Inc.
Toward deconstructing the phenotype of late‐onset Pompe disease
Authors: Schüller Angela , Wenninger Stephan , Strigl‐Pill Nicola , Schoser Benedikt 
Published: January 2012

AbstractPompe disease (glycogen storage disease type 2 or acid maltase deficiency) is a rare autosomal recessive lysosomal storage disorder. Since the advent of ERT a lot has been learned about the phenotypic spectrum especially in the late onset patients. We describe in detail 44 patients diagnosed with late‐onset Pompe disease (LOPD) at our neuromuscular department from 1985 to 2011 and compare them to patients with LOPD in the literature of the past 40 years. Study of the Munich LOPD group revealed varying musculoskeletal and cardio‐cerebrovascular manifestation patterns. Several of these symptom patterns commonly appeared in conjunction with one another, highlighting the multisystem involvement of this condition. Common symptom patterns include: (i) Classic limb girdle and diaphragmatic weakness, (ii) rigid spine syndrome (RSS), scoliosis, and low body mass, and (iii) several cardio‐cerebrovascular manifestation patterns. The most common presentation, limb girdle and diaphragmatic weakness, appeared in 78% (34/44) of our patients and over 80% of those in the literature. Sixteen percent (7/44) of our patients presented with rigid spine, scoliosis, and low body mass. Although scoliosis had a reported frequency of 33% in the general LOPD patient population, the literature only occasionally reported low body mass and RSS. Importantly, a multisystem extramuscular finding accompanied by cardio‐cerebrovascular manifestations was found in 29% (13/44) of our LOPD patients; the literature showed an increasing prevalence of this latter finding. By examining the phenotype of patients with confirmed LOPD, we found a more subtle clinical multisystem involvement in LOPD. Whether patients presenting with the different symptom patterns respond differently to enzyme replacement therapy remains a key question for future research. © 2012 Wiley Periodicals, Inc.
Eustachian tube balloon dilation surgery
Authors: McCoul Edward D. , Anand Vijay K. 
Published: January 2012

AbstractBackground:Eustachian tube dysfunction (ETD) is a common condition without an effective, accepted treatment. Balloon dilation Eustachian tuboplasty (BDET) has been recently proposed for the management of ETD. Previous studies of Eustachian tube function and treatment have not included a validated assessment of patient symptoms. We report for the first time the outcomes of BDET using a validated disease‐specific symptom score, the 7‐item Eustachian Tube Dysfunction Questionnaire (ETDQ‐7).Methods:Consecutive patients undergoing BDET were prospectively enrolled from an otolaryngology practice at a tertiary care medical center. Inclusion criteria were adults with a diagnosis of ETD based on symptoms and abnormal tympanogram. Patients with craniofacial abnormalities or active infection were excluded from study. Primary outcome measures included the ETDQ‐7 score, tympanometry, and otoscopic appearance. Secondary measures included the 22‐item Sinonasal Outcome Test (SNOT‐22) score.Results:Twenty‐two consecutive patients underwent 35 BDET procedures. Significant postoperative improvement was seen in tympanometry and otoscopic appearance (p < 0.001). ETDQ‐7 scores at 3 weeks, 6 weeks, 12 weeks, and 6 months postoperatively were significantly improved over baseline (p < 0.001). ETDQ‐7 scores showed fair correlation with SNOT‐22 scores (r > 0.65). ETDQ‐7 change scores demonstrated good responsiveness and sensitivity to clinical change following BDET.Conclusion:BDET is an effective surgical intervention for the treatment of ETD in adults. Postoperative improvements were observed using objective and subjective measures. The ETDQ‐7 is a valid, disease‐specific instrument for the assessment of treatment outcomes and may be applied for clinical use in patients with ETD. Further study is necessary to determine long‐term effectiveness. © 2011 ARS‐AAOA, LLC.
Bacterial microcolonies exist within the sphenoid bone in chronic rhinosinusitis and healthy controls
Authors: Wood Andrew James , Fraser John , Amirapu Satya , Douglas Richard George 
Published: January 2012

AbstractBackground:Some patients with chronic rhinosinusitis (CRS) exhibit thickening of the sinus bones that has been termed osteitis. The histopathology and microbiology of these changes have not been fully described. The aim of this study was to look for the presence of bacteria and immune cells within samples of bone from patients with and without CRS and correlate these findings to radiological findings.Methods:Bone on the anterior face of the sphenoid was examined radiologically and histologically in 8 patients with CRS with nasal polyposis, 8 patients with CRS without polyposis, and 6 control patients with pituitary adenomas and normal sinuses. Bone thickness and density were measured by computed tomography (CT) scanning. Bone samples were collected intraoperatively and 20 tissue sections were analyzed for each patient. Bacteria were identified by Giemsa and Gram stains. Immune cells were identified by conventional histology and immunohistochemistry.Results:Small colonies of bacteria were identified within the bone in 3 of 16 CRS patients and 2 of 6 control subjects (p = 0.6). Isolated immune cells were identified within the bone in 3 of 16 CRS patients and 2 of 6 control subjects (p = 0.6) but both bacteria and immune cells occurred together in only 1 case. The presence of bacteria or immune cells within bone samples did not correlate with either bone thickness or bone density.Conclusion:This study describes the presence of bacteria and immune cells within a minority of CRS patients and normal controls. The bacterial microcolonies identified do not appear to be the cause of the bone changes seen in many CRS patients. © 2012 ARS‐AAOA, LLC.
Synthesis and characterization of biodegradable polymers composed of 3,4‐dihydroxycinnamic acid and poly(ethylene glycol)
Authors: Dong Weifu , Xu Yapeng , Ren Jingjiao , Chu Hong , Li Jihang , Liu Xiaoya , Chen Mingqing 
Published: January 2012

AbstractA novel series of biodegradable copolymers were synthesized by the thermal polycondensation of 3,4‐dihydroxycinnamic acid (DHCA) and poly(ethylene glycol) (PEG). The copolymers were characterized by 1H‐NMR, Fourier transform infrared spectroscopy, and gel permeation chromatography. It was found that the incorporation of PEG reduced the glass‐transition temperature (Tg) of the copolymers, and Tg decreased with increasing amount of PEG in the compositions. The fluorescence spectroscopy revealed that the homopolymer and copolymers of DHCA gave a higher fluorescence emission intensity than that of DHCA monomer, of which the strongest fluorescence emission peak occurred in the copolymers containing a small amount of PEG. X‐ray diffraction spectra demonstrated that poly(3,4‐dihydroxycinnamic acid) and copolymer were amorphous; this indicated the facile biodegradability of the copolymers. Furthermore, copolymer micelles formed by self‐assembly were investigated. © 2012 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Halloysite nanotubes as particulate emulsifier: Preparation of biocompatible drug‐carrying PLGA microspheres based on pickering emulsion
Authors: Wei Zengjiang , Wang Chaoyang , Liu Hao , Zou Shengwen , Tong Zhen 
Published: January 2012

AbstractHalloysite nanotubes (HNTs)‐coated micrometer‐sized poly(lactic‐coglycolic acid) (PLGA) microparticles were fabricated via a combined system of “Pickering‐type” emulsion route and solvent volatilization method in the absence of any molecular surfactants. Stable oil‐in‐water emulsions were prepared using HNTs as a particulate emulsifier and a dichloromethane (CH2Cl2) solution of PLGA as an oil phase. The HNTs‐coated PLGA microparticles were fabricated by the evaporation of CH2Cl2 from the emulsion, and then bare‐PLGA microparticles were prepared by removal of the HNTs. SEM with energy dispersive analysis system (EDS) study confirmed adsorption of the HNTs only at the surface of the PLGA microparticles. After washing with acid aqueous solution, there is negligibly small amount of HNTs on the bare‐PLGA microparticles. Moreover, ibuprofen (IBU) as a drug model was loaded into the bare‐PLGA microparticles. And, the release curves were nicely fitted by the Weibull equation and the release followed Fickian diffusion. The combined system of Pickering emulsion and solvent volatilization opens up a new route to fabricate a variety of microparticles. © 2012 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
The Effects of Rearing Light Level and Duration Differences on the Optic Nerve, Brain, and Associated Structures in Developing Zebrafish Larvae: A Light and Transmission Electron Microscope Study
Authors: Chapman George B. , Tarboush Rania , Connaughton Victoria P. 
Published: January 2012

AbstractThe ultrastructure of the optic nerve, brain, and some associated structures of larval zebrafish, grown under three different light regimens were studied. Fish grown under cyclic light (control), constant dark (CD), and constant light (CL) were studied for 4 and 8 days postfertilization (dpf). We also studied the control and CD fish at 15 dpf. The brains of the control and CL fish were larger at 4 dpf than at 8 dpf. In all 4 dpf fish, the brain occupied the entire expanse between the two retinas and the optic nerve extended the shortest distance between the retina and the brain. The 15 dpf zebrafish had the smallest brain size. Groups of skeletal muscle cells associated with the optic nerves became visible in all older larvae. In the 15 dpf larvae, bulges and dilations in the optic nerve occurred as it reached the brain and optic chiasms occurred proximal to the brain. Electron microscopy yielded information about myelinated and unmyelinated axons in the optic nerve, the dimensions of neurotubules, neurofilaments, and myofilaments, including a unique variation in actin myofilaments, and a confirmation of reported myosin myofilament changes (but with dimensions). We also describe the ultrastructure of a sheath‐like structure that is confluent over the optic nerve and the brain, which has not been described before in zebrafish. Also presented are images of associated fibroblasts, epithelial cells lining the mouth, cartilage plates, blood vessels, nerve bundles, and skeletal muscle cells, most of which have not been previously described in the literature. Anat Rec,, 2012. © 2012 Wiley Periodicals, Inc.
Effect of stationary magnetic field strengths of 150 and 200 mT on reactive oxygen species production in soybean
Authors: Shine M.B. , Guruprasad K.N , Anand Anjali 
Published: January 2012

AbstractOur previous investigation reported the beneficial effect of pre‐sowing magnetic treatment for improving germination parameters and biomass accumulation in soybean. In this study, soybean seeds treated with static magnetic fields of 150 and 200 mT for 1 h were evaluated for reactive oxygen species (ROS) and activity of antioxidant enzymes. Superoxide and hydroxyl radicals were measured in embryos and hypocotyls of germinating seeds by electron paramagnetic resonance spectroscopy and kinetics of superoxide production; hydrogen peroxide and antioxidant activities were estimated spectrophotometrically. Magnetic field treatment resulted in enhanced production of ROS mediated by cell wall peroxidase while ascorbic acid content, superoxide dismutase and ascorbate peroxidase activity decreased in the hypocotyl of germinating seeds. An increase in the cytosolic peroxidase activity indicated that this antioxidant enzyme had a vital role in scavenging the increased H2O2 produced in seedlings from the magnetically treated seeds. Hence, these studies contribute to our first report on the biochemical basis of enhanced germination and seedling growth in magnetically treated seeds of soybean in relation to increased production of ROS. Bioelectromagnetics 33:428–437, 2012. © 2012 Wiley Periodicals, Inc.
Bacterial chemotaxis toward a NAPL source within a pore‐scale microfluidic chamber
Authors: Wang Xiaopu , Long Tao , Ford Roseanne M. 
Published: January 2012

AbstractChemotaxis toward chemical pollutants provides a mechanism for bacteria to migrate to locations of high contamination, which may improve the effectiveness of bioremediation. A microfluidic device was designed to mimic the dissolution of an organic‐phase contaminant from a single pore into a larger macropore representing a preferred pathway for microorganisms that are carried along by groundwater flow. The glass windows of the microfluidic device allowed direct image analysis of bacterial distributions within the vicinity of the organic contaminant. Concentrations of chemotactic bacteria P. putida F1 near the organic/aqueous interface were 25% greater than those of a nonchemotactic mutant in the vicinity of toluene for a fluid velocity of 0.5 m/d. For E. coli responding to phenol, the bacterial concentrations were 60% greater than the controls, also at a velocity of 0.5 m/d. Velocities in the macropore were varied over a range from 0.5 to 10 m/d, the lower end of which is typical of groundwater velocities. The accumulation of chemotactic bacteria near the NAPL chemoattractant source decreased as the fluid velocity increased. Good agreement between computer‐based simulations, generated using reasonable values of the model parameters, and the experimental data for P. putida strains confirmed the contribution due to chemotaxis. The experimental data for E. coli required a larger chemotactic sensitivity coefficient than that for P. putida, which was consistent with parameter values reported in the literature. Biotechnol. Bioeng. 2012; 109:1622–1628. © 2012 Wiley Periodicals, Inc.
Synergistic effects of liposomes, trehalose, and hydroxyethyl starch for cryopreservation of human erythrocytes
Authors: Stoll Christoph , Holovati Jelena L. , Acker Jason P. , Wolkers Willem F. 
Published: January 2012

AbstractRed blood cells (RBCs) can be cryopreserved using glycerol as a cryoprotective agent, but one of the main disadvantages is the time‐consuming deglycerolization step. Novel cryopreservation strategies for RBCs using nontoxic cryoprotective agents are urgently needed. The effect of DMPC, DOPC, and DPPC liposomes on survival of RBCs cryopreserved with trehalose and HES has been evaluated. DMPC caused hemolysis before freezing and affected RBC deformability parameters. DMPC treated RBCs displayed a strong increase in trehalose uptake compared to control cells, whereas DOPC treated liposomes only displayed a slight increase in trehalose uptake. High intracellular trehalose contents were observed after cryopreservation. The recovery of cells incubated with trehalose and liposomes, frozen in HES ranged between 92.6 and 97.4% immediately after freezing. Recovery values of RBCs frozen in HES, however, decreased to 66.5% after 96 h at 4°C compared to 77.5% for DOPC treated RBCs. The recovery of RBCs incubated and frozen in trehalose medium was 77.8%. After 96 hours post‐thaw storage recovery of these cells was 81.6%. DOPC and DPPC treated RBCs displayed higher recovery rates (up to 89.7%) after cryopreservation in trehalose compared to control RBCs. Highest survival rates were obtained using a combination of trehalose and HES: 97.8% directly after thawing and 81.8% 96‐h post‐thaw. DOPC liposomes, trehalose and HES protect RBCs during cryopreservation in a synergistic manner. The advantage is that the protective compounds do not need to be removed before transfusion. © 2012 American Institute of Chemical Engineers Biotechnol. Prog., 2012
Biologically Active Bergenin Derivatives from Bergenia stracheyi
Authors: Siddiq Farah , Fatima Itrat , Malik Abdul , Afza Nighat , Iqbal Lubna , Lateef Mehreen , Hameed Saira , Khan Sher Wali 
Published: January 2012

AbstractNew bergenin derivatives, bergecins A and B (1 and 2, resp.), have been isolated from the AcOEt‐soluble fraction of Bergenia stracheyi, along with bergenin (3), and their structures were elucidated on the basis of 1H‐ and 13C‐NMR spectra, and by COSY, HMQC, and HMBC experiments. Compound 2 showed potent inhibitory potential against the enzyme lipoxygenase, while 1 was moderately active. On the other hand, both compounds exhibited significant antioxidant activities in 1,1‐diphenyl‐2‐picrylhydrazyl (DPPH) scavenging assay.
Chemotaxonomy of Serbian Teucrium Species Inferred from Essential Oil Chemical Composition: the Case of Teucrium scordium L. ssp. scordioides
Authors: Radulović Niko , Dekić Milan , Joksović Milan , Vukićević Rastko 
Published: January 2012

AbstractThe volatile constituents of Teucrium scordium L. ssp. scordioides, T. polium, and T. montanum, obtained by hydrodistillation, were investigated by GC‐FID and GC/MS analyses. A total of 296 constituents were identified, representing 89.8–98.4% of the oil compositions. The oils of T. polium and T. montanum consisted mainly of sesquiterpenes (64.3 and 72.7%, resp.), with germacrene D (4; 31.0%) and δ‐cadinene (10; 8.1%) as the main constituents, respectively. In contrast, the monoterpene menthofuran (1; 11.9%) predominated in the oil of T. scordium ssp. scordioides, and this clearly distinguished this species from the other Teucrium taxa investigated up to date. The chemistry of the volatiles of eight Teucrium taxa from Serbia and Montenegro were compared using multivariate statistical analysis, and this provided chemotaxonomically important conclusions.
Insular thyroid cancer
Authors: Kazaure Hadiza S. , Roman Sanziana A. , Sosa Julie A. 
Published: January 2012

AbstractBACKGROUND:Insular thyroid cancer (ITC) is an uncommon, poorly differentiated thyroid malignancy. To date, there have been no population‐level studies of the characteristics and outcomes of patients with ITC.METHODS:The authors used the Surveillance, Epidemiology, and End Results (SEER) database from 1999 to 2007 to compare the characteristics and prognosis of patients who had ITC with those of patients who had well differentiated thyroid cancer (WDTC) and anaplastic thyroid cancer (ATC). Data analyses were performed using chi‐square tests, analyses of variance, log‐rank tests, and multivariate regression.RESULTS:There were 114 patients with ITC, 497 patients with ATC, and 34,021 patients with WDTC. The mean age of patients with ITC was 62.1 years versus 48.1 years for patients with WDTC and 69.5 years for patients with ATC (P < .001). The mean ITC tumor size was 5.9 cm versus 2.0 cm for WDTC and 6.4 cm for ATC (P < .001). Distant metastasis occurred in 31% of patients with ITC versus 4.5% of patients with WDTC and 59.1% of patients with ATC (P < .001). Insular histology was associated independently with compromised survival in the overall study sample (hazard ratio [HR], 2.1; P = .001). The 5‐year disease‐specific survival rate was 72.6%, 97.2%, and 9.1% for patients with ITC, WDTC, and ATC, respectively (P < .001). After adjustment, radioiodine therapy (HR, 0.15; 95% confidence interval, 0.04‐0.5) and distant metastasis (HR, 15.3; 95% confidence interval, 3.7‐62.2) were associated independently with ITC survival. The mortality rate was 7.1%, 12%, and 54.3% for patients with localized, regional, and distant stage ITC, respectively (P < .001). For patients who had ITC with distant metastasis, thyroidectomy and radioiodine therapy independently improved survival.CONCLUSIONS:ITC is rare and aggressive. The current results indicated that its treatment should include total thyroidectomy and high‐dose radioiodine for all patients and neck dissections for patients with lymph node disease. Early diagnosis and close surveillance are essential in the management of patients with ITC. Cancer 2011. © 2011 American Cancer Society.