bluuebunny/crossref_metadata_2025_split huggingface dataset:
The syndrome of gastric carcinoid and hyperparathyroidism: a family study and literature review
Authors: Christopoulos C , Balatsos V , Rotas E , Karoumpalis I , Papavasileiou D , Kontogeorgos G , Dupasquier S , Calender A , Skandalis N , Economopoulos P 
Published: January 2009

ObjectiveTo present evidence supporting the hypothesis that the coexistence of gastric carcinoids (GCs) and hyperparathyroidism may represent a distinct clinical entity, not related to multiple endocrine neoplasia type 1 (MEN1).MethodsWe studied a cohort of five young siblings (age range 26–42 years), one of whom had been found to have GC and hyperparathyroidism. All siblings underwent serial gastroscopies for the assessment of gastric neuroendocrine cell proliferations over a mean follow-up period of 31.2 months. Imaging, biochemical and hormonal as well as molecular genetic investigations were performed in the direction of MEN1 syndrome. The literature was searched for cases with coexistence of GCs and hyperparathyroidism not associated with MEN1.ResultsFour of the siblings, all male, were found to have GCs in a background of Helicobacter pylori-associated chronic atrophic gastritis and pernicious anaemia, with no serological evidence of gastric autoimmunity. In two of them, asymptomatic hyperparathyroidism was also present. Screening for MEN1 gene mutations or large deletions was negative, and hormone and imaging investigations did not support a diagnosis of familial MEN1 syndrome. A literature search revealed sporadic reports of cases with GC and hyperparathyroidism not attributable to MEN1.ConclusionsThe association of GCs and hyperparathyroidism appears to constitute a distinct syndrome that can be encountered in genetically predisposed individuals, and should not be regarded as ‘atypical’ or ‘incomplete’ expression of MEN1. Its prevalence and aetiology should be the subject of future studies. Screening for hyperparathyroidism seems to be justified in patients with GC of any type.
MERCURY IN ABIOTIC MATRICES OF CLEAR LAKE, CALIFORNIA: HUMAN HEALTH AND ECOTOXICOLOGICAL IMPLICATIONS
Authors: Suchanek Thomas H. , Eagles-Smith Collin A. , Slotton Darell G. , Harner E. James , Adam David P. 
Published: January 2009

Mercury (Hg) from Hg mining at Clear Lake, California, USA, has contaminated water and sediments for over 130 years and has the potential to affect human and environmental health. With total mercury (TotHg) concentrations up to 438 mg/kg (dry mass) in surficial sediments and up to 399 ng/L in lake water, Clear Lake is one of the most Hg‐contaminated lakes worldwide. Particulate Hg in surface water near the mine ranges from 10 000 to 64 000 ng/g; TotHg declines exponentially with distance from the Sulphur Bank Mercury Mine. From 1992 to 1998, no significant long‐term trends for TotHg or methylmercury (MeHg) in sediments or water were observed, but peaks of both TotHg and MeHg occurred following a 1995 flooding event. Sediments and water exhibit summer/fall maxima and winter/spring minima for MeHg, but not TotHg. Sediment TotHg has not declined significantly a decade after remediation in 1992. At the mine site, aqueous TotHg reached 374 000 ng/L in unfiltered groundwater. Pore water sulfate in sediments varies seasonally from 112 mg/L in summer/fall (when Hg methylation is highest) to 3300 mg/L in winter. While TotHg is exceptionally high in both sediments and water, MeHg is substantially lower than would be expected based on the bulk Hg loading to the lake and in comparison with other sites worldwide.Total mercury in Clear Lake water does not exceed the Safe Drinking Water Act criteria, but it sometimes greatly exceeds human health criteria established by the Great Lakes Initiative, U.S. Environmental Protection Agency water quality guidelines, and the California Toxics Rule criterion. Methylmercury concentrations exceed the Great Lakes Initiative criterion for MeHg in water at some sites only during summer/fall.Relative to ecological health, Clear Lake sediments greatly exceed the National Oceanic and Atmospheric Administration's benthic fauna Sediment Quality Guidelines for toxic effects, as well as the more concensus‐based Threshold Effects Concentration criteria. Based on these criteria, Hg‐contaminated sediments and water from Clear Lake are predicted to have some lethal and sublethal effects on specific resident aquatic species. However, based on unique physical and chemical characteristics of the Clear Lake environment, MeHg toxicity may be significantly less than anticipated from the large inorganic Hg loading.
SPATIOTEMPORAL TRENDS IN FISH MERCURY FROM A MINE‐DOMINATED ECOSYSTEM: CLEAR LAKE, CALIFORNIA
Authors: Suchanek Thomas H. , Eagles-Smith Collin A. , Slotton Darell G. , Harner E. James , Colwell Arthur E. , Anderson Norman L. , Mullen Lauri H. , Flanders John R. , Adam David P. , McElroy Kenneth J. 
Published: January 2009

Clear Lake, California, USA, receives acid mine drainage and mercury (Hg) from the Sulphur Bank Mercury Mine, a U.S. Environmental Protection Agency (U.S. EPA) Superfund Site that was active intermittently from 1873 to 1957 and partially remediated in 1992. Mercury concentrations were analyzed primarily in four species of Clear Lake fishes: inland silversides (Menidia beryllina, planktivore), common carp (Cyprinus carpio, benthic scavenger/omnivore), channel catfish (Ictalurus punctatus, benthic omnivorous predator), and largemouth bass (Micropterus salmoides, piscivorous top predator). These data represent one of the largest fish Hg data sets for a single site, especially in California.Spatially, total Hg (TotHg) in silversides and bass declined with distance from the mine, indicating that the mine site represents a point source for Hg loading to Clear Lake. Temporally, fish Hg has not declined significantly over 12 years since mine site remediation. Mercury concentrations were variable throughout the study period, with no monotonic trends of increase or decrease, except those correlated with boom and bust cycles of an introduced fish, threadfin shad (Dorosoma petenense). However, stochastic events such as storms also influence juvenile largemouth bass Hg as evidenced during an acid mine drainage overflow event in 1995.Compared to other sites regionally and nationally, most fish in Clear Lake exhibit Hg concentrations similar to other Hg‐contaminated sites, up to ∼2.0 mg/kg wet mass (WM) TotHg in largemouth bass. However, even these elevated concentrations are less than would be anticipated from such high inorganic Hg loading to the lake. Mercury in some Clear Lake largemouth bass exceeded all human health fish consumption guidelines established over the past 25 years by the U.S. Food and Drug Administration (1.0 mg/kg WM), the National Academy of Sciences (0.5 mg/kg WM), and the U.S. EPA (0.3 mg/kg WM). Mercury in higher trophic level fishes exceeds ecotoxicological risk assessment estimates for concentrations that would be safe for wildlife, specifically the nonlisted Common Merganser and the recently delisted Bald Eagle.Fish populations of 11 out of 18 species surveyed exhibited a significant decrease in abundance with increasing proximity to the mine; this decrease is correlated with increasing water and sediment Hg. These trends may be related to Hg or other lake‐wide gradients such as distribution of submerged aquatic vegetation.
Identifying the nonpoint source of perfluorinated compounds using a geographic information system based approach
Authors: Zushi Yasuyuki , Masunaga Shigeki 
Published: January 2009

Abstract
Perfluorinated compounds (PFCs) have been detected in a wide range of places. They have also been reported to come from nonpoint sources, but the origin of these sources has not been identified. In the present study, we attempted to characterize the nonpoint source of PFCs in the Hayabuchi River, Japan, which runs through an urban area, using a geographic information system (GIS) and statistical analysis. We also estimated annual PFC loads from nonpoint sources in Japan as a whole, determining a magnitude comparable to that from sewage treatment plants (STPs); the range was a few tons per year for each PFC. Perfluorinated compound pollution in river water was found to increase when the river received drainage from an area with a high proportion of commercial and/or transportation land use. It was also found that more PFCs were discharged from the watersheds where train stations are located. This result could be interpreted as the use of land for commercial and transportation purposes is prevalent in close proximity to train stations, and that the effluents from those areas contain high concentrations of PFCs. These findings suggested that train stations could be indicators of nonpoint sources of PFCs.
Microarray Analysis of Distinct Gene Transcription Profiles in Non-eosinophilic Chronic Sinusitis with Nasal Polyps
Authors: Payne Spencer C. , Han Joseph K. , Huyett Phillip , Negri Julie , Kropf Elizabeth Z. , Borish Larry , Steinke John W. 
Published: January 2009

Background Recent literature has indicated the feasibility of microarray analysis in the characterization of chronic sinusitis. We hypothesized that previously unexplored inflammatory mechanisms would be involved in the pathophysiology of noneosinophilic chronic rhinosinusitis with nasal polyps (NE-CRSwNP) and that this technology could be used to identify the gene expression of these novel and previously known mediators. Methods Patients with CRSwNP failing medical therapy were prospectively enrolled and NP tissue was removed at time of surgery. NE-CRSwNP was diagnosed based on clinical parameters including absence of allergic disease and confirmed with histopathology showing lack of eosinophilic infiltration. Messenger RNA (mRNA) transcripts extracted from study and control patients were then subjected to microarray analysis using Affymatrix based chips. Validation of findings was then confirmed via quantitative reverse transcription polymerase chain reaction (qRT-PCR). Results Microarray analysis revealed activation of pathways involved in antigen presentation, cellular movement, hematopoiesis, carcinogenesis, apoptosis, and cell signaling. Previously unexplored genes of interest were identified and their differential regulation was validated via qRT-PCR. Our data showed up-regulation of innate inflammation genes (IL-6, IL-8, and monocyte chemoattractant protein 1), hypoxia-induced inflammation 1α, and fibrosis (tenascin) and lack of up-regulation of genes associated with allergic, eosinophilic inflammation (IL-4 and IL-13). Additionally, the genes for CXCL1 and autocrine motility factor receptor were novelly identified to be up-regulated Conclusion This study explores the utility of gene microarray technology in identifying unexplored targets of immune dysregulation in NE-CRSwNP. Furthermore, the data characterize the immunologic profile of NE-CRSwNP as it differs from other forms of CRSwNP, in particular, those known to be associated with eosinophilic inflammation.
Pathophysiology of Nasal Polyposis: The Role of Desmosomal Junctions
Authors: Zuckerman Jodi D. , Lee Winston Y. , DelGaudio John M. , Moore Charles E. , Nava Porfirio , Nusrat Asma , Parkos Charles A. 
Published: January 2009

Background Many mucosal inflammatory conditions are associated with alterations in epithelial intercellular junctions and barrier function; however, little is known about the role of intercellular junctions in inflammatory diseases of the upper airways. In this study, we examined nasal polyps for altered intercellular junctions and protein expression. Methods Biopsy specimens of nasal polyps and normal tissue were obtained intraoperatively from 11 patients and 6 controls. Tissue was analyzed for expression of intercellular junctional proteins by immunofluorescence. In parallel, cultured human bronchial epithelial (HBE) cells were treated with tumor necrosis factor (TNF) alpha, interferon (IFN) gamma, and IL-13 to simulate inflammatory conditions followed by assessment for changes in junctional proteins by immunofluorescence and Western blot. Results Of the intercellular junctional proteins analyzed, including proteins comprising tight and adherens junctions, the only alterations observed were in desmosomal proteins in nasal polyp epithelium compared with normal controls. Specifically, expression of desmosomal proteins DSG2 and DSG3 were significantly decreased in polyps versus controls (0.53 pixel/μm2 versus 1.09 pixel/μm2 [p = 0.009], and 0.29 pixel/μm2 versus 1.11 pixel/μm2 [p = 0.0078], respectively). In vitro experiments involving exposure of cultured HBE cells with inflammatory cytokines revealed that TNF-alpha treatment resulted in internalization and decreased expression of DSG2 by immunofluorescence and Western blotting. Treatment with IFN-gamma resulted in increased expression of DSG2 and evidence of protein cleavage by Western blot. IL-13 exposure resulted in down-regulation of DSG2 expression and evidence of protein cleavage. Conclusion These results indicate that nasal polyps express decreased levels of DSG2 and DSG3 components of desmosomal junctions. This is likely linked to the mucosal inflammatory response. Exposure of a respiratory cell line to Th1/Th2 cytokines results in similar expressional alterations in DSG2, suggesting protein internalization and cleavage. We speculate that weakened desmosomal junctions in nasal mucosa secondary to inflammatory cytokines may contribute to the formation of nasal polyposis.
Squamous Metaplasia and Chronic Rhinosinusitis: A Clinicopathological Study
Authors: Mynatt Robert G. , Do Jennifer , Janney Christine , Sindwani Raj 
Published: January 2009

Background The significance of squamous metaplasia (SM) in chronic rhinosinusitis (CRS) is unknown. The objectives of this study were to determine the prevalence of SM in histopathological specimens from patients with CRS and to correlate these histological findings with clinical features. Methods We reviewed the clinical records and pathological slides from 87 consecutive patients who underwent endoscopic sinus surgery for CRS. Demographic and clinical data, preoperative Chronic Sinusitis Survey (CSS) scores, and sinus CT stage were evaluated. Pathological slides were graded by a pathologist to characterize the degree of inflammation and SM, when present. CRS patients with and without SM were compared using student's t-test and χ2 test. Results Evaluation of the pathology slides revealed that 18.4% of specimens had SM present, whereas only 2.2% of pathology reports noted this. Histological grading of chronic inflammation showed significantly greater severity in specimens with SM (n = 16) when compared with the cohort without SM (n = 75; 100.0% versus 77.5%, respectively; p = 0.016). There was no difference in preoperative CT stage or the presence of hyperostosis on imaging, CSS scores, duration of CRS symptoms, or other clinical features between those with SM and those without SM (p > 0.05). Immunodeficiency was the only comorbidity more prevalent in the metaplastic group (12.5% versus 0%, respectively; p = 0.003). Conclusion SM is present in ∼18% of routine CRS specimens. It has a positive correlation with the severity of inflammation noted histologically in CRS but does not correlate with disease severity or chronicity, clinically.
Combined Image Guidance and Intraoperative Computed Tomography in Facilitating Endoscopic Orientation within and around the Paranasal Sinuses
Authors: Wise Sarah K. , Harvey Richard J. , Goddard John C. , Sheahan Patrick O. , Schlosser Rodney J. 
Published: January 2009

Background The utility of image guidance (image-guided surgery [IGS]) and intraoperative computed tomography (CT) scanning as a tool for less experienced endoscopic surgeons to aid in localization of paranasal sinus and skull base anatomic structures was evaluated. Methods Partial endoscopic dissection was performed on cadaver specimens by three fellowship trained rhinologists. Anatomic sites within and around the sinuses were tagged with radio-opaque markers. Otolaryngology residents identified tagged anatomic sites using four successive levels of technology: endoscopy alone (simulating outpatient clinic), endoscopy plus preoperative CT (simulating endoscopic sinus surgery [ESS] without IGS), endoscopy plus IGS registered to preoperative CT (simulating current ESS with IGS), and endoscopy plus IGS registered to real-time intraoperative CT. Responses were graded as follows: consensus rhinologist answer (4 points), close answer without clinically significant difference (3 points), within anatomic region but definite clinical difference (2 points), outside of anatomic region (1 point), no answer (0 points). Results Eleven residents participated. Of 20 specific anatomic sites, IGS-intraoperative CT provided the most accurate anatomic identification at 16 sites. For 8 sites, IGS-intraoperative CT had a significantly higher score than endoscopy alone (p < 0.05; eta2 = 0.29-0.67). For 6 sites, IGS-preoperative CT scan had a significantly higher score than endoscopy alone (p < 0.05; eta2 = 0.30-0.67). All participants found that IGS-intraoperative CT scan made them most comfortable in identifying anatomy. Conclusion Combined IGS and intraoperative CT scan technology may be an instructional adjunct for less experienced paranasal sinus surgeons for dissection and evaluation of unfamiliar or distorted anatomy.
Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder
Authors: Paisán‐Ruiz Coro , Scopes Geoff , Lee Philip , Houlden Henry 
Published: January 2009

AbstractThe use of genome wide genotyping arrays has the potential to assess entire groups of genetic disorders in one application and has begun to emerge as an aid to diagnosis in clinical practice. Recessive families may suffer from diseases because of homozygosity of recessive alleles; homozygosity tracks can be easily identified by using these high throughput SNPs arrays, allowing the rapid mapping of autozygous segments that may be associated with the disease. According to this, we performed homozygosity mapping using genome wide SNP arrays in a North Indian family with an autosomal recessive disorder of ataxia, epilepsy, cognitive decline and visual problems. In this kindred, a large number of homozygous regions were identified. In silico analysis was also carried out. The COL18A1 gene found in one of the homozygous tracks has genetic defects previously reported with a similar phenotype as our family. Hence, it was the most likely candidate gene and at large the first to be analyzed. A homozygous COL18A1 two base pair deletio segregating with the disease was identified; expanding the spectrum of disease seen in COL18A1 and proving that the genetic lesion underlying recessive disorders can rapidly identify by employing genotyping arrays along with detailed candidate gene analysis. © 2009 Wiley‐Liss, Inc.
P2RX7: A bipolar and unipolar disorder candidate susceptibility gene?
Authors: Green Elaine K. , Grozeva Detelina , Raybould Rachel , Elvidge Gareth , Macgregor Stuart , Craig Ian , Farmer Anne , McGuffin Peter , Forty Liz , Jones Lisa , Jones Ian , O'Donovan Mick C. , Owen Mike J. , Kirov George , Craddock Nick 
Published: January 2009

AbstractThe chromosomal region 12q24 has been previously implicated by linkage studies of both bipolar disorder and unipolar mood disorder and we have reported two pedigrees segregating both bipolar disorder and Darier's disease that show linkage across this region. The gene P2RX7 is located in this chromosomal region and has been recently reported as a susceptibility gene for bipolar disorder and unipolar depression. The non‐synonymous SNP rs2230912 (resulting in amino‐acid polymorphism Q460R) showed the strongest association and has been postulated to be pathogenically relevant. We have investigated this gene in a large UK case‐control sample (bipolar I disorder N = 687, unipolar recurrent major depression N = 1,036, controls N = 1,204). Neither rs2230912 nor any of 8 other SNPs genotyped across P2RX7 was found to be associated with mood disorder in general, nor specifically with bipolar or unipolar disorder. Further, sequencing of our two chromosome 12‐linked bipolar‐Darier families showed no evidence of rare variants at P2RX7 that could explain the linkage. Our data do not provide support for rs2230912 or the other polymorphisms studied within the P2RX7 locus, being involved in susceptibility to mood disorders. © 2009 Wiley‐Liss, Inc.
Pharmacodynamics of glucose regulation by methylprednisolone. I. Adrenalectomized rats
Authors: Jin Jin Y. , Jusko William J. 
Published: January 2009

AbstractMechanisms related to the adverse effects of corticosteroids on glucose homeostasis were studied. Five groups of adrenalectomized (ADX) rats were given methylprednisolone (MPL) intravenously at 10 and 50 mg/kg, or a continuous 7 day infusion at rates of 0, 0.1, 0.3 mg/kg/h via subcutaneously implanted Alzet mini‐pumps. Plasma concentrations of MPL, glucose and insulin were determined at various time points up to 72 h after injection or 336 h after infusion. The pharmacokinetics of MPL was captured with a two‐compartment model. The Adapt II software was used in modeling. Injection of MPL caused a temporary glucose increase over 6 h by stimulating gluconeogenesis. The glucose changes stimulated pancreatic β‐cell secretion yielding a later insulin peak at around 10 h. In turn, insulin can stimulate glucose disposition. However, long‐term MPL treatment caused continuous hyperglycemia during and after infusion. Insulin was increased during infusion, and immediately returned to baseline after the infusion was terminated, despite the almost doubled glucose concentration. A disease progression model incorporating the reduced endogenous glucose disposition was included to capture glucose homeostasis under different treatments. The results exemplify the importance of the steroid dosing regimen in mediating pharmacological and adverse metabolic effects. This mechanistic pharmacokinetic/pharmacodynamic (PK/PD) model quantitatively describes the induction of hyperglycemia and provides additional insights into metabolic disorders such as diabetes. Copyright © 2009 John Wiley & Sons, Ltd.
The dynamics of surface acoustic wave‐driven scaffold cell seeding
Authors: Bok Melanie , Li Haiyan , Yeo Leslie Y. , Friend James R. 
Published: January 2009

AbstractFlow visualization using fluorescent microparticles and cell viability investigations are carried out to examine the mechanisms by which cells are seeded into scaffolds driven by surface acoustic waves. The former consists of observing both the external flow prior to the entry of the suspension into the scaffold and the internal flow within the scaffold pores. The latter involves micro‐CT (computed tomography) scans of the particle distributions within the seeded scaffolds and visual and quantitative methods to examine the morphology and proliferation ability of the irradiated cells. The results of these investigations elucidate the mechanisms by which particles are seeded, and hence provide valuable information that form the basis for optimizing this recently discovered method for rapid, efficient, and uniform scaffold cell seeding. Yeast cells are observed to maintain their size and morphology as well as their proliferation ability over 14 days after they are irradiated. The mammalian primary osteoblast cells tested also show little difference in their viability when exposed to the surface acoustic wave irradiation compared to a control set. Together, these provide initial feasibility results that demonstrate the surface acoustic wave technology as a viable seeding method without risk of denaturing the cells. Biotechnol. Bioeng. 2009;103: 387–401. © 2009 Wiley Periodicals, Inc.