bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial Breast Cancer: Genetic Testing
Authors: Alabek Michelle L , Farley Megan N 
Published: May 2013

Abstract

Hereditary breast cancer is uncommon, accounting for approximately 5–10% of all breast cancer diagnoses. However, it is critical to identify individuals with a hereditary breast cancer predisposition. These individuals can significantly benefit from altering their personal cancer surveillance plan from the general population recommendations. Individuals with a hereditary breast cancer risk should work with their clinicians to develop a personalised management plan, which may include a combination of increased screening, preventative surgeries and risk‐reducing medications. To best determine who may be at risk, what their particular risks are and the most appropriate testing strategy, a formal genetic risk assessment is needed. Genetic testing may confirm the presence of a cancer predisposition syndrome in a family, providing information regarding the cancer risks for the individual and their family members and directing appropriate clinical management. Owing to the complexities associated with this process, involvement of specially trained genetics professionals is crucial.

Key Concepts:

It is estimated that approximately 5–10% of breast cancers are hereditary.

BRCA1 and BRCA2 are the most common genes associated with hereditary breast cancer risk.

In addition to the BRCA1 and BRCA2 genes, there are several other genes that are associated with a well‐defined hereditary cancer predisposition syndrome that includes an increased breast cancer risk.

Formal genetic risk assessment is helpful to determine the most appropriate and cost‐effective strategy for genetic testing.

It is necessary to fully understand the implications of genetic testing results to form a comprehensive and adequate surveillance and management strategy for the individual and their family.

The medical management for hereditary breast cancer predisposition syndromes includes high‐risk surveillance, prophylactic surgical options, lifestyle changes and chemoprevention.

Recent studies suggest that breast cancer risk may be increased in young BRCA‐positive women who initiate screening mammograms before the age of 30.

Recent studies have suggested that doubling the standard 5‐year course of tamoxifen use can reduce breast cancer recurrence and mortality in high‐risk women.

Recent research has suggested that most ovarian cancers actually arise in the fallopian tube, leading researchers to propose prophylactic surgeries that may preserve the ovaries in the future.

Newer data suggest that maintaining a healthy weight reduces cancer recurrence risks, and that this may be due at least in part to the role the BRCA1 gene plays in mimicking a negative energy balance within the cell.
Alternative Plasmonic Materials: Beyond Gold and Silver
Authors: Naik Gururaj V. , Shalaev Vladimir M. , Boltasseva Alexandra 
Published: May 2013

AbstractMaterials research plays a vital role in transforming breakthrough scientific ideas into next‐generation technology. Similar to the way silicon revolutionized the microelectronics industry, the proper materials can greatly impact the field of plasmonics and metamaterials. Currently, research in plasmonics and metamaterials lacks good material building blocks in order to realize useful devices. Such devices suffer from many drawbacks arising from the undesirable properties of their material building blocks, especially metals. There are many materials, other than conventional metallic components such as gold and silver, that exhibit metallic properties and provide advantages in device performance, design flexibility, fabrication, integration, and tunability. This review explores different material classes for plasmonic and metamaterial applications, such as conventional semiconductors, transparent conducting oxides, perovskite oxides, metal nitrides, silicides, germanides, and 2D materials such as graphene. This review provides a summary of the recent developments in the search for better plasmonic materials and an outlook of further research directions.
Applications of Gold Nanoparticles in the Detection and Identification of Infectious Diseases and Biothreats
Authors: Lin Meihua , Pei Hao , Yang Fan , Fan Chunhai , Zuo Xiaolei 
Published: May 2013

AbstractThe situation of infectious diseases and biothreats all over the world remains serious. The effective identification of such diseases plays a very important role. In recent years, gold nanoparticles have been widely used in biosensor design to improve the performance for the detection of infectious diseases and biothreats. Here, recent advances of gold‐nanoparticle‐based biosensors in this field are summarized.
Bicyclization of Diazomethanes: A Synthetic Strategy for Fused Pyrazoles
Authors: Wang He , Zhao Yu‐Long , Li Lei , Zhang Zhen‐Wei , Liu Qun 
Published: May 2013

AbstractOn the terminal diazo nitrogen atom, two CN bonds are formed in the bicyclization reaction of the readily available acyclic substrates with diazomethanes as 1,3‐dipoles. The tandem 1,3‐dipolar cycloaddition/intramolecular aza‐addition/oxidative aromatization reaction can tolerate a variety of functional groups and proceeds under mild metal‐free conditions to give substituted analogues of withasomnine alkaloids in good to high yields in a single step.
Palladium(II)/Polyoxometalate‐Catalyzed Direct C‐3 Alkenylation of Indoles using Dioxygen as the Terminal Oxidant
Authors: Huang Qiufeng , Song Qianqian , Cai Jin , Zhang Xiaofeng , Lin Shen 
Published: May 2013

AbstractAn efficient and practical synthetic method has been developed for the preparation of 3‐vinylindoles by the direct CH olefination of indoles with alkenes. The transformation is catalyzed by palladium acetate combined with 12‐molybdophosphoric acid and uses oxygen as the terminal oxidant. 4‐Dimethylaminopyridine (DMAP) was observed to be an effective additive for the olefination reaction. Functional groups such as methoxy, benzyloxy, fluoro, bromo, ester, phenyl, and methyl were tolerated under the reaction conditions.
Synthesis of a Long Acting HIV Protease Inhibitor via Metal or Enzymatic Reduction of the Appropriate Chloro Ketone and Selective Zinc Enolate Condensation with an Amino Epoxide
Authors: Houpis Ioannis N. , Liu Renmao , Liu Lin , Wang Yanfei , Dong Nengfa , Zhao Xiangan , Zhang Yan , Xiao Tingting , Wang Youchu , Depre Dominique , Nettekoven Ulrike , Vogel Michael , Wilson Rob , Collier Steve 
Published: May 2013

AbstractThis paper describes a new convergent approach to the synthesis of an HIV protease inhibitor which was designed to be suitable in long acting formulations. Unique features in the synthesis include an asymmetric hydrogenation as well as enzymatic reduction of a key chloro ketone intermediate, to set the threo stereochemistry in the corresponding epoxide and the diastereoselective coupling of the latter with the zinc enolate of a suitable functionalized amide derivative.
Selective Intramolecular Palladium(II)‐Catalyzed Aminooxygenation vs. Diamination of Alkenylureas: Efficient Microwave‐Assisted Reactions to Bicyclic Piperazinones
Authors: Broggini Gianluigi , Barbera Vincenzina , Beccalli Egle M. , Chiacchio Ugo , Fasana Andrea , Galli Simona , Gazzola Silvia 
Published: May 2013

AbstractAlkenylureas arising from glycine allylamides were proven to be suitable substrates for the synthesis of bicyclic five‐membered ring‐fused piperazinones. The reported intramolecular domino processes, performed under oxidative conditions with bis(acetonitrile)palladium dichloride as catalyst and copper(II) chloride in a stoichiometric amount by microwave activation, were completely selective, involving either diamination or aminooxygenation. While the latter process is determined by the direct intervention of the urea oxygen on the σ‐alkylpalladium intermediate, the diamination reaction can in principle derive from a direct attack of the second nitrogen atom on the palladium complex or on the first formed chloromethylpiperazinone. Indeed, this latter species was isolated and proved to be capable of conversion solely into the imidazopiperazinone.
Cloning and Heterologous Expression of the Aurachin RE Biosynthesis Gene Cluster Afford a New Cytochrome P450 for Quinoline N‐Hydroxylation
Authors: Kitagawa Wataru , Ozaki Taro , Nishioka Taiki , Yasutake Yoshiaki , Hata Miyako , Nishiyama Makoto , Kuzuyama Tomohisa , Tamura Tomohiro 
Published: May 2013

AbstractAurachin RE is a prenylated quinoline antibiotic that was first isolated from the genus Rhodococcus. It shows potent antibacterial activity against a variety of Gram‐positive bacteria. Here we have identified a minimal biosynthesis gene cluster for aurachin RE in Rhodococcus erythropolis JCM 6824 by using random transposon mutagenesis and heterologous production. The Rhodococcus aurachin (rau) gene cluster consists of genes encoding cytochrome P450 (rauA), prenyltransferase, polyketide synthase, and farnesyl pyrophosphate synthase, as well as others including genes involved in regulation and transport. Markerless gene disruption of rauA resulted in the complete loss of aurachin RE production and in the accumulation of a new aurachin derivative lacking the N‐hydroxy group. When the recombinant RauA was expressed in Escherichia coli, it catalyzed N‐hydroxylation of the derivative to form aurachin RE. This study establishes the biosynthetic pathway of aurachin RE and provides experimental evidence for the role of P450 RauA in catalyzing N‐hydroxylation of the quinoline ring, which is indispensable for the antibacterial activity of aurachin RE.
Single‐stent crossover technique from distal unprotected left main coronary artery to the left circumflex artery
Authors: Naganuma Toru , Chieffo Alaide , Basavarajaiah Sandeep , Takagi Kensuke , Costopoulos Charis , Latib Azeem , Carlino Mauro , Montorfano Matteo , Bernelli Chiara , Nakamura Sunao , Colombo Antonio 
Published: May 2013

ObjectivesTo report the clinical outcomes of single‐stenting from distal unprotected left main coronary artery (LMCA) to the left circumflex artery (LCx).BackgroundPercutaneous coronary intervention of distal LMCA is usually performed by stenting into the left anterior descending artery (LAD). In some cases, stenting from LMCA to LCx alone is performed.MethodsBetween April 2002 and April 2011, single‐stenting with drug‐eluting stents for distal unprotected LMCA disease was performed in 584 patients. Thirty‐one patients underwent LMCA–LCx stenting, who were compared with the remaining 553 LMCA–LAD stented patients.ResultsAt 3‐year follow‐up, there were no significant differences between LMCA–LCx and LMCA‐LAD stenting groups in major adverse cardiac events (24.1% vs. 19.6%; P = 0.540), cardiac death, and myocardial infarction. A trend toward higher target lesion revascularization (TLR) in the LMCA–LCx stenting group was noted. This was significant when the stented branch was only considered (18.2% vs. 3.0%; P < 0.001). In both TLR subgroups, LCx ostium was frequently involved (83.3% in LMCA–LCx vs. 66.2% in LMCA–LAD TLR subgroups; P = 0.39). The LAD ostium was more frequently involved in LMCA–LCx TLR subgroup (83.3% vs. 21.0%; P < 0.001). On the multivariable Cox regression analysis, LMCA–LCx stenting was an independent predictor of TLR for restenosis at the ostium of the stented branch (HR 6.49; 95% CI 2.27–18.53; P < 0.001).ConclusionsTLR rate at the LCx ostium is high irrespective of LMCA–LCx or LMCA–LAD stenting. The former also seems to be associated with high TLR at the LAD ostium. It may therefore be important to evaluate alternative strategies for treating distal LMCA disease that extends into the LCx but not LAD. © 2013 Wiley Periodicals, Inc.
H(OEt2)2[P(1,2‐O2C6Cl4)3]: Synthesis, Characterization, and Application as a Single‐Component Initiator for the Carbocationic Polymerization of Olefins
Authors: Siu Paul W. , Hazin Khatera , Gates Derek P. 
Published: May 2013

AbstractThe development of novel Brønsted acids featuring the hexacoordinate phosphorus(V) anion [TRISPHAT]− {[1]−=[P(1,2‐O2C6Cl4)3]−} are reported. The title compound, H(OEt2)2[1], was synthesized from 1,2‐(HO)2C6Cl4 (3 equiv) and PCl5 in the presence of diethyl ether. This compound was fully characterized by 1H, 31P and 13C NMR spectroscopy, X‐ray crystallography and elemental microanalysis. Dissolution of H(OEt2)2[1] in acetonitrile results in the slow precipitation of crystalline H(OEt2)(NCMe)[1], which was characterized by X‐ray diffraction; however, in CD2Cl2 solution the [TRISPHAT]− anion protonated and ring‐opened. The weighable, solid H(OEt2)2 [1] was found to be a competent initiator for the polymerization of n‐butyl vinyl ether, α‐methylstyrene, styrene and isoprene at a variety of temperatures and monomer‐to‐initiator ratios. At low temperatures, polymers with Mn>105 were obtained for n‐butyl vinyl ether and α‐methylstyrene whereas slightly lower molecular weights were obtained with styrene and isoprene (104<Mn<105). The poly(α‐methylstyrene) synthesized at −78 °C is syndiotactic‐rich (ca. 87 % rr) whereas the polystyrene obtained at −50 °C is atactic. The polyisoprene obtained possessed all possible modes of enchainment as well as branched and/or cyclic structures that are often observed in polyisoprene.
Using “Threading Followed by Shrinking” to Synthesize Highly Stable Dialkylammonium‐Ion‐Based Rotaxanes
Authors: Wang Liang‐Yun , Ko Jia‐Ling , Lai Chien‐Chen , Liu Yi‐Hung , Peng Shie‐Ming , Chiu Sheng‐Hsien 
Published: May 2013

AbstractHerein, we report a “threading followed by shrinking” approach for the synthesis of rotaxanes by using an “oxygen‐deficient” macrocycle that contained two arylmethyl sulfone units and the dumbbell‐shaped salt bis(3,5‐dimethylbenzyl)ammonium tetrakis(3,5‐trifluoromethylphenyl)borate as the host and guest components, respectively. The extrusion of SO2 from both of the arylmethyl sulfone units of the macrocyclic component in the corresponding [2]pseudorotaxane resulted in a [2]rotaxane that was sufficiently stable to maintain its molecular integrity in CD3SOCD3 at 393 K for at least 5 h.
Characterising rag‐forming solids
Authors: Kupai Morvarid Madjlessi , Yang Fan , Harbottle David , Moran Kevin , Masliyah Jacob , Xu Zhenghe 
Published: May 2013

AbstractIn oil sands froth treatment, an undesirable intermediate layer, often accumulates during the separation of water–oil emulsions. The layer referred to as rag layer is a complex mixture of water, oil, solids and interfacially active components. The presence of a rag layer has a detrimental impact on the separation of water and fine solids from diluted bitumen. The current study focuses on characterisation of solids from a rag layer forming stream of a naphthenic froth treatment plant in an attempt to understand the mechanism of rag layer formation. Through detailed characterisation of rag‐forming and non‐rag‐forming solids, the mineralogy of solids and their contamination were shown to be critical to rag layer formation. The iron‐based minerals such as siderite and pyrite were found to be enriched within the rag layer. Analysis of surface organic complexes confirms a high level of organic matter associated with these solids through the binding of carboxylic acid group with iron on solids, resulting in a surface hydrophobicity susceptible for rag layer formation.
Fine‐needle aspiration of histoplasmosis in the era of endoscopic ultrasound and endobronchial ultrasound
Authors: Gailey Michael P. , Klutts J. Stacey , Jensen Chris S. 
Published: May 2013

BACKGROUNDHistoplasmosis has a textbook cytologic description with numerous intracellular organisms that are readily apparent on routine stains. This is based on series and reports describing histoplasmosis in immunosuppressed patients with disseminated disease. With the advent of ultrasound‐guided (US) fine‐needle aspiration (FNA) techniques, a marked increase in the cytologic diagnosis of histoplasmosis in immunocompetent patients is noted.METHODSA search identified all cytology cases diagnosed with Histoplasma within the past 10 years. Cases were reviewed, along with patient demographic, clinical, and laboratory data.RESULTSA total of 40 FNA cases of histoplasmosis were identified. Patients ranged in age from 15 years to 86 years. There were 23 female patients and 17 male patients; 37 were immunocompetent and 3 were immunosuppressed. Sixteen patients were being staged for primary tumors of other sites; others presented with primary pulmonary symptoms or histoplasmosis was noted incidentally. Specimens were composed of bland acellular necrosis, most commonly with granulomas (77.5%); only rare intracellular organisms were present on routine stains, and variable extracellular organisms were noted on Grocott methenamine silver stain (GMS) stain. GMS stain on direct smears was found to be more sensitive than cell block. Laboratory studies for urine antigen, yeast, and mycelial antibody (by compliment fixation), serum antibody (by immunodiffusion), and culture were positive in 11.8%, 59.1%, 4.5%, 47.6%, and 3.4% of cases, respectively.CONCLUSIONSIn an endemic region, histoplasmosis presents more commonly in immunocompetent patients as localized fibrocaseous disease on FNA and is often identified by high‐resolution imaging. FNA is increasingly used in the diagnosis because of endoscopic ultrasound and endobronchial ultrasound. GMS stain on direct smears is more sensitive than cell block. In general, laboratory tests have low sensitivity in this patient population. Cancer (Cancer Cytopathol) 2013;121:508‐17. © 2013 American Cancer Society.
False‐negative rate of endoscopic ultrasound‐guided fine‐needle aspiration for pancreatic solid and cystic lesions with matched surgical resections as the gold standard
Authors: Woolf Kirsten M. W. , Liang Hua , Sletten Zachary J. , Russell Donna K. , Bonfiglio Thomas A. , Zhou Zhongren 
Published: May 2013

BACKGROUNDThe diagnosis of pancreatic tumors is often complicated because of sampling and interpretive challenges. The current study was performed to determine the rates, types, and causes of diagnostic discrepancies.METHODSThe authors retrospectively reviewed cytology cases from 2004 to 2010 using matched surgical resection cases as the gold standard.RESULTSA total of 733 cases were divided into 3 categories: 1) positive or suspicious (290 cases); 2) negative or atypical (403 cases); and 3) unsatisfactory (40 cases). Of these cases, 101 fine‐needle aspiration (FNA) cases had matched surgical resections including 58 positive diagnoses, 39 negative diagnoses, and 4 unsatisfactory diagnoses. All 19 discrepant cases represented false‐negative diagnoses without any false‐positive cases noted, which included 2 cases with interpretive errors (10%) and 17 cases with sampling errors (90%). All matched cytology cases were divided into 5 subgroups based on the type of lesion or type of error and were analyzed for sensitivity and specificity. The sampling error rate in cystic lesions (8 of 24; 33%) was significantly higher than that in solid lesions (9 of 73; 12%). The false‐negative rate in the interpretive error group (3%) was significantly lower than that in the sampling error group (23%).CONCLUSIONSThe results of the current study confirm that pancreatic endoscopic ultrasound‐guided FNA diagnosis has a very low false‐positive rate but a relatively high false‐negative rate using matched surgical resections as the gold standard. The major cause of a false‐negative cytology diagnosis is sampling error and the rate of sampling error in cystic lesions is significantly higher than that in solid lesions. Cancer (Cancer Cytopathol) 2013;121:449‐58. © 2013 American Cancer Society.
Pharmacokinetics of Irinotecan With and Without Panitumumab Coadministration in Patients With Metastatic Colorectal Cancer
Authors: Yang Bing‐Bing , Wu Chi‐Yuan , Chen Eric , Infante Jeffrey R. , Chen Alin , Gao Bing , Smith Brian , Litten Jason , Kennecke Hagen 
Published: May 2013

AbstractThis study examined the effects of panitumumab, a human monoclonal antibody against epidermal growth factor receptor (EGFR), on irinotecan pharmacokinetics. This phase I, open‐label, multicenter, single‐arm study enrolled patients with metastatic colorectal cancer (mCRC) without prior exposure to an EGFR inhibitor. In cycle 1, patients received irinotecan (180 mg/m2 intravenously [IV]) on day 1 and panitumumab (6 mg/kg IV) on Day 4. In cycle 2 (2 weeks after cycle 1 panitumumab administration) and subsequent every‐2‐week cycles, patients received panitumumab followed immediately by irinotecan until disease progression or intolerability. Primary and secondary endpoints included Cmax and AUC of irinotecan after irinotecan infusion in cycles 1 and 2, and adverse events, respectively. Nineteen of 27 treated patients were eligible for pharmacokinetic analysis. Pharmacokinetic profiles of irinotecan with or without panitumumab coadministration were nearly identical. The 90% confidence intervals for ratios of geometric means for irinotecan Cmax and AUC with or without panitumumab were within the 80–125% interval, indicating that panitumumab had no apparent effects on irinotecan pharmacokinetics. Adverse events were as expected for irinotecan plus panitumumab combination therapy.
Treating eating disorders over the internet: A systematic review and future research directions
Authors: Aardoom Jiska J. , Dingemans Alexandra E. , Spinhoven Philip , Van Furth Eric F. 
Published: May 2013

ObjectiveTo review the literature regarding internet‐based treatment of eating disorders (ED).MethodRelevant studies were identified by searching electronic databases (including Medline, Embase, PsycInfo, and Web of Science). Eligible studies evaluated an internet‐based treatment for ED, or an ED treatment that included at least one internet‐based component.ResultsTwenty‐one studies were included. Methodological quality varied. Internet‐based treatments were superior to waiting lists in reducing ED psychopathology, frequency of binge eating and purging, and in improving (ED‐related) quality of life. Internet‐based treatment was more effective for individuals with less comorbid psychopathology, binge eating as opposed to restrictive problems, and individuals with binge eating disorder as opposed to bulimia nervosa. Higher levels of compliance were related to more improvements in ED symptoms. Study dropout ranged from 5.3 to 76.8%. Inclusion of face‐to‐face assessments and therapist support seemed to enhance study compliance. Overall, the internet can be considered an acceptable vehicle for delivering ED treatment.DiscussionFuture research should determine the utility of internet‐based treatment by comparing them to face‐to‐face treatment. Research should furthermore focus on unraveling predictors and mediators of treatment outcome, compliance, and dropout, respectively. Studies with good methodological quality are needed with reports according to CONSORT guidelines. © 2013 by Wiley Periodicals, Inc. (Int J Eat Disord 2013; 46:539–552)