bluuebunny/crossref_metadata_2025_split huggingface dataset:
Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene
Authors: Yokoi Yumiko , Nakazawa Mitsuru , Mizukoshi Sayuri , Sato Kota , Usui Tomoaki , Takeuchi Kimio 
Published: June 2009

Abstract.Purpose:  We report a patient (Case 1) with Bietti crystalline corneoretinal dystrophy (BCD) associated with previously unknown findings of crystal‐like deposits on the anterior and posterior lens capsules. This patient is one of four (Cases 1–4) in whom we have found BCD associated with the same mutation in the CYP4V2 gene.Methods:  We present a case report with molecular diagnosis. A 45‐year‐old man (Case 1) was referred to our clinic with complaints of gradual progression of visual disturbances and night blindness. His visual acuity was limited to hand movement bilaterally. Slit‐lamp biomicroscopy disclosed glistening, crystal‐like deposits on the anterior and posterior lens capsules, as well as on the corneal stroma near the corneoscleral limbus. No such deposit was found in the lens stroma. Fundus examination disclosed profound chorioretinal atrophy with scarce crystal deposits. Full‐field electroretinography showed extinguished responses of isolated rods, isolated cones, and mixed rods and cones.Results:  Molecular genetic analysis revealed that the subject had a homozygous mutation in the CYP4V2 gene (IVS6–8delTCATACAGGTCATCGCG/insGC), which is most commonly found in Japanese patients with BCD. Three other cases (Cases 2–4) of BCD associated with the same mutation did not show such crystal‐like deposits on the lens surface.Conclusions:  Although their exact origin remains unknown, crystal‐like deposits may appear on the lens capsule of patients with BCD associated with a mutation in the CYP4V2 gene.
Serious infections in British patients with systemic lupus erythematosus: hospitalisations and mortality
Authors: Goldblatt F , Chambers S , Rahman A , Isenberg DA 
Published: June 2009

This retrospective study determined the prevalence and nature of hospitalisations secondary to infection, and examined the mortality from infection in our large British cohort of patients with systemic lupus erythematosus (SLE). Casenote and database information of 104 consecutive patients attending the UCLH specialised SLE clinic were reviewed for the number of hospitalisations due to infection and the clinical and serological features of affected patients. Cohort mortality data were examined to identify deaths secondary to infectious diseases. Infection serious enough to result in hospitalisation occurred in 15% of the patients in the selected sample of our whole cohort. Six patients had more than one admission due to infection, with pneumonia being the most frequent. Typical bacterial pathogens were most commonly identified. A significant association between admissions for infection and nephritis ( P < 0.05 by Chi-square) was identified; however, the use of high dose prednisolone or other immunosuppressants did not increase the risk for infection requiring hospitalisation ( P > 0.5 by Chi-square) in our study. Between 1978 and 2007, 17 of 67 (25%) deaths in our SLE cohort of 470 patients were because of infection. Patients who died from infectious causes were more likely to have existing or previous renal disease than those who died from non-infectious causes ( P < 0.01 by Chi-square). The majority who died from infection were on high dose prednisolone plus at least one other immunosuppressive agent and had serologically active disease. The study highlights the significant problem of infection in British patients with SLE. Early recognition and treatment of infectious diseases in these patients together with considered use of immunosuppressant medications and vaccinations may help to reduce the impact of these complications.
Genetic polymorphism in milk fat globule-EGF factor 8 (MFG-E8) is associated with systemic lupus erythematosus in human
Authors: Hu CY , Wu CS , Tsai HF , Chang SK , Tsai WI , Hsu PN 
Published: June 2009

Milk fat globule-EGF factor 8 (MFG-E8) is a molecule implicated in phagocytic clearance of apoptotic cells by bridging between macrophages and apoptotic cells. Defects in MFG-E8 cause lupus-like disease in murine models. The aim of our study is to determine whether genetic variation in MFG-E8 predisposes human to systemic lupus erythematosus (SLE). A case-control study of MFG-E8 genetic polymorphism was performed on 147 SLE patients and 146 non-lupus control subjects. Single nucleotide polymorphisms (SNPs) in the coding sequence of human MFG-E8 gene were investigated. SNPs on MFG-E8 residues 3 (3Arg or Ser) and 76 (76Leu or Met) did not show genetic linkage. Genetic polymorphism on MFG-E8 residue 76 correlated significantly to SLE. The MFG-E8-76Met allele predisposed subjects to SLE in a recessive mode (odds ratio: 2.1, P = 0.020), while carriage of MFG-E8-76Leu were negatively associated with SLE. The MFG-E8 genotypic combinations with 3Ser and 76Leu showed the most pronounced protective effect on SLE when compared to the most predisposing genotype 3Arg/Arg-76Met/Met (OR: 0.29, P = 0.007). According to our result, MFG-E8 is associated with SLE predisposition in Taiwanese. Our study implicates that the impairment of phagocytic clearance of apoptotic cells through phosphotidylserine-dependent MFG-E8 system may lead to the development of human SLE.
Fcγ receptor IIB and IIIB polymorphisms and susceptibility to systemic lupus erythematosus and lupus nephritis: a meta-analysis
Authors: Lee YH , Ji JD , Song GG 
Published: June 2009

The aim of this study was to explore whether polymorphisms of the Fcγ receptors ( FcγRs) IIB T/I232 and FcγRIIIB NA1/NA2, confer susceptibility to systemic lupus erythematosus (SLE) and lupus nephritis (LN). The authors conducted a meta-analysis on associations between the FcγRIIB T/I232 and FcγRIIIB NA1/NA2 polymorphisms and SLE and LN susceptibility as determined using 1) allele contrast, 2) recessive, 3) dominant models and 4) contrast of homozygotes. A total of 16 separate comparisons were considered, consisting of 2887 SLE patients and 3105 controls. Meta-analysis of the FcγRIIB T/I232 polymorphism showed a significant association between the FcγRIIB T allele and the risk of developing SLE compared with the FcγRIIB I allele (OR = 1.207, 95% CI = 1.061–1.373, P = 0.004). In subjects of Asian descent, a significant association was observed between the FcγRIIB T allele and SLE (OR = 1.332, 95% CI 1.138–1.558, P < 0.001). However, in Europeans no such association was found. In contrast, no association was found between SLE or LN and the Fc γRIIIB NA1/NA2 polymorphism in all subjects, or in European and Asian populations. This meta-analysis shows that the FcγRIIB T/I232 polymorphism confers susceptibility to SLE, especially in Asian-derived populations.
Neuromyelitis optica positive antibodies confer a worse course in relapsing-neuromyelitis optica in Cuba and French West Indies
Authors: Cabrera-Gómez JA , Bonnan M , González-Quevedo A , Saiz-Hinarejos A , Marignier R , Olindo S , Graus F , Smadja D , Merle H , Thomas L , Gómez-García A , Cabre P 
Published: June 2009

Background In Caucasian populations Neuromyelitis Optica (NMO-IgG) antibody has been detected in 27.1% / 78.2% of patients with relapsing-NMO (R-NMO). The prevalence reported for the disease in the Caribbean is 3.1/100,000 in the French West Indies (FWI) and 0.52 /100,000 in Cuba, but the NMO antibody status is unknown. Objective To assess the NMO-IgG antibody status of Cuban/FWI RNMO patients, comparing with European cases tested at the same laboratories. Methods Serum NMO-IgG antibodies were assayed in 48 R-NMO patients (Wingerchuck´s 1999 criteria): Cuba (24)/FWI (24), employing Lennon et al´s method. We compared the demographic, clinical, disability and laboratory data between NMO-IgG +/- patients. All the data were reviewed and collected blinded to the NMO-IgG status. Results Seropositivity of the NMO-IgG antibody demonstrated a lower rate in the Caribbean (33.3%), as compared with Caucasian patients from Spain/Italy (62.5%) and France (53.8%). Caribbean patients with NMO-IgG (+) displayed more attacks, more spinal attacks and a higher EDSS than NMO-IgG (-) cases, while brain and spinal cord MRI lesions were more frequent during remission, with more vertebral segments, more gray, white matter and holocord involvement. Conclusions NMO IgG positive antibodies in NMO patients had a lower rate in the Caribbean area – where the population has a predominant African ancestry – than in Caucasian Europeans, suggesting the influence of a possible ethnic factor in the pathogenesis of the disease, but they confer a worse course with more attacks, more disability and MRI lesions.
Hormone-regulated expression and distribution of versican in mouse uterine tissues
Authors: Salgado Renato M , Capelo Luciane P , Favaro Rodolfo R , Glazier Jocelyn D , Aplin John D , Zorn Telma MT 
Published: June 2009

Abstract

Background
Remodeling of the extracellular matrix is one of the most striking features observed in the uterus during the estrous cycle and after hormone replacement. Versican (VER) is a hyaluronan-binding proteoglycan that undergoes RNA alternative splicing, generating four distinct isoforms. This study analyzed the synthesis and distribution of VER in mouse uterine tissues during the estrous cycle, in ovariectomized (OVX) animals and after 17beta-estradiol (E2) and medroxyprogesterone (MPA) treatments, either alone or in combination.

Methods
Uteri from mice in all phases of the estrous cycle, and animals subjected to ovariectomy and hormone replacement were collected for immunoperoxidase staining for versican, as well as PCR and quantitative Real Time PCR.

Results
In diestrus and proestrus, VER was exclusively expressed in the endometrial stroma. In estrus and metaestrus, VER was present in both endometrial stroma and myometrium. In OVX mice, VER immunoreaction was abolished in all uterine tissues. VER expression was restored by E2, MPA and E2+MPA treatments. Real Time PCR analysis showed that VER expression increases considerably in the MPA-treated group. Analysis of mRNA identified isoforms V0, V1 and V3 in the mouse uterus.

Conclusion
These results show that the expression of versican in uterine tissues is modulated by ovarian steroid hormones, in a tissue-specific manner. VER is induced in the myometrium exclusively by E2, whereas MPA induces VER deposition only in the endometrial stroma.
Technetium-99m scan in the laparoscopic management of a misdiagnosed Meckel's diverticulum: a case report
Authors: Pitiakoudis Michael , Vaos George , Kirmanidis Michael , Gardikis Stefanos , Tsalkidou Evanthia , Simopoulos Constantinos 
Published: June 2009

Abstract

Introduction
Although Meckel's diverticulum is the most common congenital abnormality of the gastrointestinal tract and modern imaging techniques are available, its diagnosis remains problematic.

Case presentation
A technetium-99 scan was performed in an 18-year-old man with abdominal pain, vomiting and rectal bleeding to confirm the presence of a Meckel's diverticulum which was not diagnosed laparoscopically elsewhere. The technetium-99 scan was positive and a diagnostic laparoscopy was re-performed which revealed a Meckel's diverticulum that was subsequently resected.

Conclusion
We suggest that a technetium-99m scan should be performed before laparoscopy in children and adolescents with suspected Meckel's diverticulum. A positive technetium-99m scan may significantly contribute to the laparoscopic definitive diagnosis and treatment of a bleeding Meckel's diverticulum. However, diagnostic laparoscopy should only be performed by experienced surgeons.
Manifestations of Ollier's disease in a 21-year-old man: a case report
Authors: Fallahi Babak , Bostani Morteza , Gilani Kianoush Ansari , Beiki Davood , Gholamrezanezhad Ali 
Published: June 2009

Abstract

Introduction
Ollier's disease is a rare nonhereditary disorder characterized by multiple enchondromas with a predilection for unilateral distribution. Malignant changes in Ollier's disease may occur in adult patients. Radionuclide bone scanning is one method used to assess lesions depicted on radiographs or magnetic resonance images that are presumed to be enchondromas. Also, a bone scan may give a clue to the multifocal nature of the disease and it has been recommended that scintigraphy is useful in the monitoring of lesions and the development of any malignant transformation.

Case presentation
A 21-year-old man with a history of pathologic fractures of the right tibia and multiple limb surgeries related to Ollier's disease was referred to our nuclear medicine department. Radiographic assessment showed multiple radiolucent expansile lesions, suggestive of multiple enchondromas. A whole-body bone (99mTc-MDP) scan showed multiple foci of increased activity involving the proximal and distal right femur and tibia, proximal right humerus, distal right ulna, right metacarpals, metatarsals and phalyngeal tubular bones, consistent with unilateral distribution of the lesions. The long bones of the left hemi-skeleton were unremarkable, representing unilateral involvement of the skeleton. In this case, the intensity of uptake in the lesions of the lower extremity was high, raising the possibility of malignant degeneration of the enchondromas. Hence, the patient underwent surgical excision of the suspected lesions. Pathology analysis revealed their benign nature.

Conclusion
Although the malignant transformation of enchondromas is a well known phenomenon, it should be kept in mind that other etiologies can be considered as the cause of intensely increased uptake. Retrospective assessment of our patient revealed that the etiology of increased uptake in the lower limb lesions was due to previous insufficiency fractures and the possibility of malignant transformation was ruled out based on the pathology findings.
Local Crystal Structure Modifications in Pulsed Laser Deposited Colossal Magnetoresistive Oxide Thin Films
Authors: Sahiner M. Alper , Shah Wiqar , Aranguren Marc , Serfass Jeffrey , Woicik Joseph C. 
Published: June 2009

ABSTRACTThe local structure around the manganese atom is probed by extended x-ray absorption spectroscopy (EXAFS) measurements in pulsed laser deposited thin films of La11xCaxMnO3 (x=0.1210.53). The thin films were deposited on various single crystal oxide substrates. The effect of the lattice parameter of the substrate on the local structural modifications around Mn atom is investigated. All the x-ray absorption experiments were performed at the National Synchrotron Light Source of Brookhaven National Laboratory. By detailed EXAFS theoretical modeling for the possible local structures and the least square fitting to the EXAFS data using these models, the overall substrate and the Ca concentration effects are probed. The EXAFS results indicate a rigid Mn-O bonding, but response of the Mn-O-Mn bond angle upon variations of the substrate lattice constant and Ca substitution.
Influence of Alloy Microstructure on Oxide Growth in HCM12A in Supercritical Water
Authors: Bischoff Jeremy , Motta Arthur T. , Tan Lizhen , Allen Todd R. 
Published: June 2009

ABSTRACTHCM12A is a ferritic-martensitic steel alloy envisioned for cladding and structural material in the Generation IV Supercritical Water Reactor (SCWR). This alloy was oxidized in 600°C supercritical water for 2, 4 and 6 weeks, and the oxide layers formed were analyzed using microbeam synchrotron radiation and electron microscopy. The oxide layers show a three-layer structure with an Fe3O4 outer layer, an inner layer containing a mixture of Fe3O4 and FeCr2O4 and a diffusion layer containing FeCr2O4 and Cr2O3 precipitates along ferrite lath boundaries. The base metal microstructure has a strong influence on the advancement of the oxide layers, due to the segregation at the lath boundaries of chromium rich particles, which are oxidized preferentially.
Thermal Performance of Deep-Burn Fusion-Fission Hybrid Waste in a Repository
Authors: Blink James A. , Chipman Veraun , Farmer Joseph , Shaw Henry , Zhao Pihong 
Published: June 2009

ABSTRACTThe thermal characteristics of the spent fission fuel from a hybrid fusion-fission system (LIFE) capable of extremely high burnups are described. The waste has higher thermal output per unit mass of heavy metal, but lower thermal output per unit energy generated. Plausible designs for interim storage containers and cooling configuration can remove the heat without exceeding fuel temperature limits. Calculations show that a spent LIFE fuel repository would perform within the limits established for the proposed repository at Yucca Mountain.
Radiological Aspects of Deep-Burn Fusion-Fission Hybrid Waste in a Repository
Authors: Shaw Henry F. , Blink James A. , Farmer Joseph C. , Kramer Kevin J. , Latkowski Jeffery F. , Zhao Pihong 
Published: June 2009

ABSTRACTThe quantity, radioactivity, and isotopic characteristics of the spent fission fuel from a hybrid fusion-fission system capable of extremely high burnups are described. The waste generally has higher activity per unit mass of heavy metal, but much lower activity per unit energy generated. The very long-term radioactivity is dominated by fission products. Simple scaling calculations suggest that the dose from a repository containing such waste would be dominated by 129I, 135Cs, and 242Pu. Use of such a system for generating energy would greatly reduce the need for repository capacity
Rate Theory Modeling of Irradiation-induced Phosphorus Segregation in FCC nickel Using First Principles Calculations
Authors: Ebihara Ken-ichi , Yamaguchi Masatake , Kaburaki Hideo , Nishiyama Yutaka 
Published: June 2009

ABSTRACTWe have evaluated phosphorus (P) segregation in ion-irradiated nickel (Ni) by the rate theory model incorporating the results of first principles calculations. We find from our first principles calculation that the transport of P via the rotation mode of a mixed-dumbbell is unlikely to occur, and the transport coefficient of phosphorus by the vacancy mechanism is much larger than that reported previously. On the basis of our first principles results, we have also proposed to include the effect of free migration of P via the octahedral interstitial site of FCC Ni crystal in the rate theory model. With all these renewed parameters, we have successfully obtained the P distribution in irradiated Ni, which is very close to experiment, by adjusting the effect of P transport by the vacancy mechanism.
Effects on Hardness and Elastic Modulus for DSS-8 Peptide Treatment on Remineralization of Human Dental Tissues
Authors: Hsu Chia-Chan , Chung Hsiu-Ying , Hagerman Elizabeth Marie , Shi Wenyuan , Yang Jenn-Ming , Wu Ben 
Published: June 2009

ABSTRACTDental remineralization may be achieved by mediating the interactions between tooth surfaces with free ions and biomimetic peptides. We recently developed octuplet repeats of aspartate-serine-serine (DSS-8) peptide, which occurs in high abundance in naturally occurring proteins that are critical for tooth remineralization. In this paper, we evaluated the possible role of DSS-8 in enamel remineralization. Human enamel specimens were demineralized, exposed briefly to DSS-8 solution, and then exposed to concentrated ionic solutions that favor remineralization. Enamel nano-mechanical behaviors, hardness and elastic modulus, at various stages of treatment were determined by nanoindentation. The phase, microstructure and morphology of the resultant surfaces were characterized using the grazing incidence X-ray diffraction (GIXD), variable pressure scanning electron microscopy (VPSEM), and atomic force microscopy (AFM), respectively. Nanoindentation results show that the DSS-8 remineralization effectively improves the mechanical and elastic properties for demineralized enamel.
High Performance N-type Organic Thin-Film Transistors with Inert Contact Metals
Authors: Schols Sarah , Van Willigenburg Lucas , Müller Robert , Bode Dieter , Debucquoy Maarten , Genoe Jan , Heremans paul , Lu Shaofeng , Facchetti Antonio 
Published: June 2009

AbstractThin film growth by high vacuum evaporation of the n-type organic semiconductor 5, 5″′-diperfluorohexylcarbonyl-2,2′:5′,2″:5″,2″′-quaterthiophene (DFHCO-4T) on poly-(α-methylstyrene)-coated n++-Si/SiO2 substrates is investigated at various deposition fluxes and substrate temperatures. Film characterization by atomic force microscopy reveals typical Stransky-Krastanov growth. Transistors with Au source-drain top contacts and optimized DFHCO-4T deposition conditions attain an apparent saturation mobility of 4.6 cm2/Vs, whereas this parameter is 100× lower for similar transistors with LiF/Al top contacts. We explain this lower performance by the formation of a thin interfacial layer with poor injection properties resulting from a redox reaction between Al and DFHCO-4T.
Real-time Investigations on the Formation of CuIn(S,Se)2 while annealing precursors with varying sulfur content
Authors: Hölzing Astrid , Schurr Roland , Jost Stefan , Palm Jörg , Deseler Klaus , Wellmann Peter J. , Hock Rainer 
Published: June 2009

AbstractCIS based chalcopyrite absorber materials are usually substituted in the cation and anion lattice to yield mixed pentanary crystals with the general composition Cu(In,Ga)(Se,S)2 to achieve an optimised adaptation of the semiconductor bandgap to the terrestrial solar spectrum. Real-time investigations during the annealing of stacked elemental layers (SEL) of sputtered metals Cu and In and evaporated chalcogens S and Se with varying ratios were performed by angle-dispersive time-resolved XRD (X-ray diffraction) measurements. After qualitative phase analysis the measured powder diagrams were quantitatively analysed by the Rietveld method, the phases formed determined and their reaction kinetics obtained. Ternary indium and copper sulfoselenides form by the sulfoselenisation of the intermetallic alloy yielding different educts for the chalcopyrite formation with varying sulfur content. For S/(S+Se) ≥ 0.5 the formation of the chalcopyrite CuIn(S,Se)2 is similar to the crystallisation path of CuInS2. With increasing amount of selenium (S/(S+Se) = 0.25) different ternary sulfoselenides contribute to the semiconductor formation. For small amounts of sulfur, i.e. S/(S+Se) ≤ 0.1, the chalcopyrite crystallisation proceeds comparable to the one observed for sulfur-free Cu-In-Se precursors. The formation of CuIn(S,Se)2 is accelerated and proceeds mainly after the peritectic decomposition of Cu(S,Se) to Cu2(S,Se). The sulfur content determines the crystallisation temperature of the semiconductor because Cu(S,Se) decomposes at higher temperatures with increasing sulfur. Upon heating S ↔ Se exchange reactions take place in the Cu-S-Se and Cu-In-S-Se system.
TCO Thin Films with Permittivity Control
Authors: Gessert Timothy , Yoshida Yuki , Fesenmaier Christian , Duenow Joel , Coutts Timothy 
Published: June 2009

AbstractWe have shown that variation in the real part of the dielectric permittivity of typical transparent conducting oxide (TCO) films can have a profound effect on the optical properties of the material. This has been demonstrated by adding small amounts of Zr to an ITO ceramic sputtering target and analyzing the resulting ITO and ITO:Zr (ITZO) films. Comparative electrical and optical analyses of the films show that, although the carrier concentration and mobility do not change appreciably by adding 1 wt.% ZrO2 to the ITO sputtering target, the plasma wavelength increases significantly for the ITZO film. We believe that the underlying physics of these results can be exploited in designing future TCO films for photovoltaic (PV) applications—especially those that embody industrial advantages but remain limited by low mobility.