Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.

PubMed

Mills, Kimberly I; Anderson, Jacqueline; Levy, Philip T; Cole, F Sessions; Silva, Jennifer N A; Kulkarni, Shashikant; Shinawi, Marwan

2013-01-01

Wolff-Parkinson-White (WPW) syndrome is caused by preexcitation of the ventricular myocardium via an accessory pathway which increases the risk for paroxysmal supraventricular tachycardia. The condition is often sporadic and of unknown etiology in the majority of cases. Autosomal dominant inheritance and association with congenital heart defects or ventricular hypertrophy were described. Microdeletions of 20p12.3 have been associated with WPW syndrome with either cognitive dysfunction or Alagille syndrome. Here, we describe the association of 20p12.3 duplication with WPW syndrome in a patient who presented with non-immune hydrops. Her paternal uncle carries the duplication and has attention-deficit hyperactivity disorder and electrocardiographic findings consistent with WPW. The 769 kb duplication was detected by the Affymetrix Whole Genome-Human SNP Array 6.0 and encompasses two genes and the first two exons of a third gene. We discuss the potential role of the genes in the duplicated region in the pathogenesis of WPW and possible neurobehavioral abnormalities. Our data provide additional support for a significant role of 20p12.3 chromosomal rearrangements in the etiology of WPW syndrome. Copyright © 2012 Wiley Periodicals, Inc.

How to maintain the oral health of a child with Wolff-Parkinson-White syndrome: a case report

PubMed Central

2014-01-01

Introduction Wolff-Parkinson-White syndrome is one of the most important disorders of the heart conduction system. It is caused by the presence of an abnormal accessory electrical conduction pathway between the atria and the ventricles. Case presentation In the present report, we describe the correct oral health management of a 12-year-old Caucasian girl with Wolff-Parkinson-White syndrome. Conclusions We successfully undertook the dental care of a girl with Wolff-Parkinson-White syndrome, which we describe here. PMID:25269932

Sister M. Madeleva Wolff, C.S.C.

ERIC Educational Resources Information Center

Petit, M. Loretta

2006-01-01

Sister M. Madeleva Wolff, C.S.C., teacher, essayist, poet, and college administrator, through her creative ability and innovative practices made possible major contributions to Catholic education in her lifetime. Without her strong personality and boundless energy, many of her dreams for an ideal college curriculum would not have come to fruition.…

[Christian Wolff (1679-1754) and the medical concept of his time].

PubMed

Kaiser, W

1979-06-01

The 300th anniversary of the birthday of Christian Wolff gave the occasion to set his multilateral work in relation to the medical currents of his time and to analyse it from the standpoint of modern medicine. Especially in his early period at Halle University Christian Wolff develops a new research programme with essential accents for the future physician. His philosophical literature with the postulates containing in this are conformable to the aim of the predecessors of the French revolution and on the sector of the art of therapeutic forms the basis decisive improvements in organised public health.

Characterisation of three-dimensional mapping in Wolff-Parkinson-White syndrome with septal aneurysmal dyskinesis.

PubMed

Okada, Seigo; Muneuchi, Jun; Origuchi, Hideki

2018-01-01

A 21-year-old man with Wolff-Parkinson-White syndrome and aneurysmal septal dyskinesis underwent radiofrequency catheter ablation of the accessory pathways. Before radiofrequency catheter ablation, the activation wavefront arose from the aneurysmal septum, whereas the propagation of the left ventricle was normalised after radiofrequency catheter ablation. These findings demonstrate the importance of the electro-mechanical interaction in patients with Wolff-Parkinson-White syndrome and ventricular dysfunction.

Atrial flutter with 1:1 conduction in undiagnosed Wolff-Parkinson-White syndrome.

PubMed

Nelson, Jessie G; Zhu, Dennis W

2014-05-01

Atrial flutter with 1:1 atrioventricular conduction via an accessory pathway is an uncommon presentation of Wolff-Parkinson-White syndrome not previously reported in the emergency medicine literature. Wolff-Parkinson-White syndrome, a form of ventricular preexcitation sometimes initially seen and diagnosed in the emergency department (ED), can present with varied tachydysrhythmias for which certain treatments are contraindicated. For instance, atrial fibrillation with preexcited conduction needs specific consideration of medication choice to avoid potential degeneration into ventricular fibrillation. We describe an adult female presenting with a very rapid, regular wide complex tachycardia successfully cardioverted in the ED followed by a normal electrocardiogram (ECG). Electrophysiology study confirmed atrial flutter with 1:1 conduction and revealed an accessory pathway consistent with Wolff-Parkinson-White syndrome, despite lack of ECG findings of preexcitation during sinus rhythm. Why should an emergency physician be aware of this? Ventricular tachycardia must be the first consideration in patients with regular wide complex tachycardia. However, clinicians should consider atrial flutter with 1:1 conduction related to an accessory pathway when treating patients with the triad of very rapid rate (>250 beats/min), wide QRS complex, and regular rhythm, especially when considering pharmacologic treatment. Emergency physicians also should be aware of electrocardiographically concealed accessory pathways, and that lack of delta waves does not rule out preexcitation syndromes such as Wolff-Parkinson-White syndrome. Copyright © 2014 Elsevier Inc. All rights reserved.

Infrared Quenched Photoinduced Superconductivity

NASA Astrophysics Data System (ADS)

Federici, J. F.; Chew, D.; Guttierez-Solana, J.; Molina, G.; Savin, W.; Wilber, W.

1996-03-01

Persistant photoconductivity (PPC) and photoinduced superconductivity (PISC) in oxygen deficient YBa_2Cu_3O_6+x have received recent attention. It has been suggested that oxygen vacancy defects play an important role in the PISC/PPC mechanism.(J. F. Federici, D. Chew, B. Welker, W. Savin, J. Gutierrez-Solana, and T. Fink, Phys. Rev. B), December 1995 Supported by National Science Foundation In this model, defects trap photogenerated electrons so that electron-hole recombination can not occur thereby allowing photogenerated holes to contribute to the carrier density. Nominally, the photoinduced state is long-lived, persisting for days at low temperature. Experiment results will be presented demonstrating that the photoinduced superconductivity state can be quenched using infrared radiation. Implications for the validity of the PISC/PCC defect model will be discussed.

[Radiofrequency catheter ablation in children with Wolff-Parkinson-White syndrome and sudden cardiac death who had been resuscitated].

PubMed

Benito Bartolomé, F; Sánchez Fernández-Bernal, C

2001-04-01

Sudden death may be the first manifestation of the Wolff-Parkinson-White syndrome, especially in children and adolescents. The aim of this study was to evaluate the usefulness of radiofrequency catheter ablation in children with Wolff-Parkinson-White syndrome with aborted sudden death. We report four patients with Wolff-Parkinson-White syndrome who survived cardiac arrest. The patients were aged from 2.5 months to 16 years. The two first patients were lactating infants; in the first sudden death occurred during digoxin treatment for supraventricular tachycardia secondary to Wolff-Parkinson-White syndrome and in the second the syndrome was diagnosed after an episode of sudden death. In these patients a free wall accessory pathway (left posterior and left lateral, respectively) was successfully ablated using a transseptal approach. The third patient was diagnosed with asymptomatic Wolff-Parkinson-White syndrome; sudden death occurred during exercise. In the fourth patient, sudden death occurred after intravenous therapy with adenosine triphosphate and amiodarone for rapid atrial fibrillation. In both patients, one accessory pathway, located in right posteroseptal and right anterior free wall, respectively, was ablated. After a mean follow-up of 43.5 26.4 months, no recurrence of sudden death had occurred and electrocardiogram showed sinus rhythm without delta wave. The third patient presented severe sequelae of hypoxemic encephalopathy, which persisted during the follow-up. Radiofrequency catheter ablation is the treatment of choice in Wolff-Parkinson-White syndrome with episodes of aborted sudden death.

Risk assessment in ginecology and obstetrics in Sicily: an approach based on Wolff's Criteria.

PubMed

Matranga, D; Marsala, M G L; Vadalà, M; Morici, M; Restivo, V; Ferrara, C; Vitale, F; Firenze, A

2013-01-01

To apply Wolff's Criteria to hospital discharge records (HDR) in order to detect adverse events worthy of further study. Gynecology and Obstetrics Units of three Sicilian hospitals were considered and HDR regarding ordinary and day hospital admissions in 2008 were collected. A matched case-control study was designed, by random selection of 10 controls at maximum for each case. Matching was performed on the variables age and speciality of admission (gynecology or obstetrics). Out of a total of 7011 HDR examined, 114 cases were identified with Wolff's Criteria. Multivariate analysis confirmed a statistically significant association with the origin of admission, diagnosis at the acceptance and length of stay: there was a decreased risk of Wolff's event in patients having urgent admission compared to elective (OR = 0.47, 95% CI = [0.28-0.78]), an increased risk in patients reporting tumor (OR = 5:41, 95 % CI [1.89-15.47]) and other causes (OR = 2.16, 95% CI [1.10-4.24]) compared to delivery diagnosis at acceptance and in patients whose length of stay was more than 6 days (OR = 23.17, 95% CI = [12.56-42.7]) compared to less or equal than 3 days Wolff's Criteria can be applied for the analysis of clinical risk in hospitals with different structural characteristics, on condition that the HDR database is complete and good quality.

Caring for the Student with Wolff-Parkinson-White Syndrome

ERIC Educational Resources Information Center

Prenni, Patricia G.

2009-01-01

Wolff-Parkinson-White syndrome is a cardiac condition in which an extra electrical pathway within the heart causes an abnormal increase in heart rate. It affects one to three people of every 1,000 people worldwide, occurring more often in males. Diagnosis usually occurs during young adulthood, so it is important for school nurses to be familiar…

Multiple Cardiac Rhabdomyomas, Wolff-Parkinson-White Syndrome, and Tuberous Sclerosis: An Infrequent Combination

PubMed Central

Castilla Cabanes, Elena; Lacambra Blasco, Isaac

2014-01-01

Cardiac rhabdomyomas are benign cardiac tumours and are often associated with tuberous sclerosis. They are often asymptomatic with spontaneus regresion but can cause heart failure, arrhythmias, and obstruction. There have also been a few isolated reports of Wolff-Parkinson-White syndrome occurring in association with tuberous sclerosis and the great majority has been detected in patients with concomitant rhabdomyomas. We report a 12-day-old infant girl with tuberous sclerosis who presented with intraparietal and intracavitary rhabdomyomas with a Wolff-Parkinson-White syndrome (WPW). She represents one of the few published cases of WPW syndrome and tuberous sclerosis and particularly interesting because of intramural rhabdomyomas regression with persistent intracavitary rhabdomyomas after two years of followup. PMID:25328743

Microwave-assisted domino and multicomponent reactions with cyclic acylketenes: expeditious syntheses of oxazinones and oxazindiones.

PubMed

Presset, Marc; Coquerel, Yoann; Rodriguez, Jean

2009-12-17

The microwave-assisted Wolff rearrangement of cyclic 2-diazo-1,3-diketones in the presence of aldehydes and primary amines provides a straightforward access to functionalized bi- and pentacyclic oxazinones following an unprecedented three-component domino reaction. Alternatively, in the presence of acyl azides, an efficient Curtius/Wolff/hetero-Diels-Alder sequence allows the direct synthesis of oxazindiones.

Photoinduced electro-optics measurements of biosilica transformation to cristobalite

DOE Office of Scientific and Technical Information (OSTI.GOV)

Fuchs, Ido; Aluma, Yaniv; Ilan, Micha

2015-03-15

In this paper we studied the photoinduced electro optics effects in the thermal transformation process of biosilica to cristobalite, at a relatively low temperature and ambient pressure. This process was characterized by a variety of standards techniques with emphasis on linear electro optic effect measurements. Overall we demonstrated that photoinduced electro optics measurements are very sensitive to the transformation from amorphous structure of silica in the natural sponge samples to laminar string morphology of cristobalite. With this technique we could probe the change in the samples chirality from achiral bio silica to chiral cristobalite structure. Furthermore it is shown thatmore » natural biosilica have photoinduced linear electro optics respond indicating the chiral natural of biosilica. - Graphical abstract: The phase transformation of biosilica from marine sponges to Cristobalite under thermal treatment was investigated using photoinduced electro optics measurements. The figure shows the changes of the electro-optic coefficient of cristobalite and biosilica. - Highlights: • We examine phase transformation of biosilica. • We report transition from amorphous biosilica to crystalline Cristobalite. • Biosilica transformation to Cristobalite at temperature of 850 °C. • Biosilica transformation is studied with photoinduced measurements. • We examine changes in the photoinduced linear electro optics properties.« less

Natural history of Wolff-Parkinson-White syndrome diagnosed in childhood.

PubMed

Cain, Nicole; Irving, Claire; Webber, Steven; Beerman, Lee; Arora, Gaurav

2013-10-01

Wolff-Parkinson-White (WPW) syndrome carries a risk for symptomatic arrhythmias and sudden death. The aim of this study was to examine the natural history of patients with Wolff-Parkinson-White syndrome diagnosed in childhood followed longitudinally at a single institution. The study population consisted of 446 patients. The median age of diagnosis was 7 years, and 61% were male. Associated heart disease was present in 40 patients (9%). Modes of presentation included supraventricular tachycardia (38%), palpitations (22%), chest pain (5%), syncope (4%), atrial fibrillation (0.4%), sudden death (0.2%), and incidental findings (26%); data were unavailable in 4%. During the study period, a total of 243 patients (54%) had supraventricular tachycardia, and 7 patients (1.6%) had atrial fibrillation. Of patients who presented at ≤3 months of age, 35% had resolution of manifest preexcitation compared with 5.8% who presented at >3 months of age (p <0.0001). There were 6 sudden deaths (1.3%), with an incidence of 2.8 per 1,000 patient-years. Two of these patients had structurally normal hearts (incidence 1.1 per 1,000 patient-years). Four of these patients had associated heart disease (incidence 27 per 1,000 patient-years) (p <0.01). In conclusion, in a large population of patients with Wolff-Parkinson-White syndrome diagnosed in childhood, 64% had symptoms at presentation, and an additional 20% developed symptoms during follow-up. There were 6 sudden deaths (1.3%), with an overall incidence of 1.1 per 1,000 patient-years in patients with structurally normal hearts and 27 per 1,000 patient-years in patients with associated heart disease. Copyright © 2013 Elsevier Inc. All rights reserved.

A Hydrazine-Free Wolff-Kishner Reaction Suitable for an Undergraduate Laboratory

ERIC Educational Resources Information Center

Cranwell, Philippa B.; Russell, Andrew T.

2016-01-01

A Wolff-Kishner reaction that does not require hydrazine has been developed. The reaction sequence has two steps: formation of a carbomethoxyhydrazone from methyl hydrazinocarboxylate and acetophenone, then decomposition of this intermediate by treatment with potassium hydroxide in triethylene glycol. Purification is by filtration through a plug…

Lymphocutaneous Sporotrichosis Treated with Potassium Iodide with Development of Subclinical Hypothyroidism: Wolff-Chaikoff Effect?

PubMed

Arora, Pooja; Raihan, M; Kubba, Asha; Gautam, Ram K

2017-01-01

Sporotrichosis is a subcutaneous mycotic infection caused by Sporothrix schenckii that is acquired by traumatic implantation. The diagnosis is established by demonstration of fungal elements on histopathology and culture. Potassium iodide, azole antifungals, and terbinafine are the treatment options available. In this article, we report a 60-year-old female with lymphocutaneous sporotrichosis that responded well to potassium iodide. However, subclinical hypothyroidism (Wolff-Chaikoff effect) was encountered as a side effect of therapy which was managed with thyroxine replacement. Knowledge about the Wolff-Chaikoff effect (WCE) is important for the dermatologist and reinforces the need for screening and monitoring of thyroid stimulating hormone (TSH) in patients where long duration therapy is being planned.

Alternating Wolff-Parkinson-White syndrome associated with attack of angina

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mangiafico, R.A.; Petralito, A.; Grimaldi, D.R.

1990-07-01

In a patient with Wolff-Parkinson-White syndrome and an inferior-posterior bypass tract, transient restoration of normal conduction occurred during an attack of angina. The ECG pattern of inferior posterior ischemia was present when the conduction was normal. Thallium scintigraphy showed a reversible posterolateral perfusion defect. The possible mechanisms for production of intermittent preexcitation are discussed.

Spinal Anaesthesia is Safe in a Patient with Wolff-Parkinson-White Syndrome Undergoing Evacuation of Molar Pregnancy.

PubMed

Deviseti, Pravalika; Pujari, Vinayak S

2016-02-01

Wolff-Parkinson-White (WPW) syndrome is an uncommon cardiac condition where there is an abnormal band of atrial tissue connecting atria and ventricles which can electrically bypass atrioventricular node. The anaesthetic management in these patients is challenging as life threatening complications can occur perioperatively like paroxysmal supraventricular tachycardia and atrial fibrillation. Also, regional anaesthetic technique like subarachnoid block is a safe and cost effective alternative to general anaesthesia as it avoids polypharmacy. We report the successful anaesthetic management of Wolff Parkinson White syndrome in a primi with hydatiform mole posted for suction and evacuation.

Wolff-Parkinson-White syndrome: lessons learnt and lessons remaining.

PubMed

Benson, D Woodrow; Cohen, Mitchell I

2017-01-01

The Wolff-Parkinson-White pattern refers to the electrocardiographic appearance in sinus rhythm, wherein an accessory atrioventricular pathway abbreviates the P-R interval and causes a slurring of the QRS upslope - the "delta wave". It may be asymptomatic or it may be associated with orthodromic reciprocating tachycardia; however, rarely, even in children, it is associated with sudden death due to ventricular fibrillation resulting from a rapid response by the accessory pathway to atrial fibrillation, which itself seems to result from orthodromic reciprocating tachycardia. Historically, patients at risk for sudden death were characterised by the presence of symptoms and a shortest pre- excited R-R interval during induced atrial fibrillation <250 ms. Owing to the relatively high prevalence of asymptomatic Wolff-Parkinson-White pattern and availability of catheter ablation, there has been a need to identify risk among asymptomatic patients. Recent guidelines recommend invasive evaluation for such patients where pre-excitation clearly does not disappear during exercise testing. This strategy has a high negative predictive value only. The accuracy of this approach is under continued investigation, especially in light of other considerations: Patients having intermittent pre-excitation, once thought to be at minimal risk may not be, and the role of isoproterenol in risk assessment.

2-Diazo-1-(4-hydroxyphenyl)ethanone: a versatile photochemical and synthetic reagent.

PubMed

Senadheera, Sanjeewa N; Evans, Anthony S; Toscano, John P; Givens, Richard S

2014-02-01

α-Diazo arylketones are well-known substrates for Wolff rearrangement to phenylacetic acids through a ketene intermediate by either thermal or photochemical activation. Likewise, α-substituted p-hydroxyphenacyl (pHP) esters are substrates for photo-Favorskii rearrangements to phenylacetic acids by a different pathway that purportedly involves a cyclopropanone intermediate. In this paper, we show that the photolysis of a series of α-diazo-p-hydroxyacetophenones and p-hydroxyphenacyl (pHP) α-esters both generate the identical rearranged phenylacetates as major products. Since α-diazo-p-hydroxyacetophenone (1a, pHP N2) contains all the necessary functionalities for either Wolff or Favorskii rearrangement, we were prompted to probe this intriguing mechanistic dichotomy under conditions favorable to the photo-Favorskii rearrangement, i.e., photolysis in hydroxylic media. An investigation of the mechanism for conversion of 1a to p-hydroxyphenyl acetic acid (4a) using time-resolved infrared (TRIR) spectroscopy clearly demonstrates the formation of a ketene intermediate that is subsequently trapped by solvent or nucleophiles. The photoreaction of 1a is quenched by oxygen and sensitized by triplet sensitizers and the quantum yields for 1a-c range from 0.19 to a robust 0.25. The lifetime of the triplet, determined by Stern-Volmer quenching, is 31 ns with a rate for appearance of 4a of k = 7.1 × 10(6) s(-1) in aq. acetonitrile (1 : 1 v : v). These studies establish that the primary rearrangement pathway for 1a involves ketene formation in accordance with the photo-Wolff rearrangement. Furthermore we have also demonstrated the synthetic utility of 1a as an esterification and etherification reagent with a variety of substituted α-diazo-p-hydroxyacetophenones, using them as synthons for efficiently coupling it to acids and phenols to produce pHP protect substrates.

Divergent chemo-, regio-, and diastereoselective normal electron-demand Povarov-type reactions with α-oxo-ketene dienophiles.

PubMed

Galvez, Jaime; Castillo, Juan-Carlos; Quiroga, Jairo; Rajzmann, Michel; Rodriguez, Jean; Coquerel, Yoann

2014-08-15

The reactions between electron-rich 2-aza-dienes and α-oxo-ketenes derived from the Wolff rearrangement of 2-diazocycloalkane-1,3-diones chemo- and regioselectively produced spiro hydropyrid-4-ones with good to excellent diastereoselectivities. These reactions are likely to proceed via a domino Wolff/Friedel-Crafts/intramolecular Mannich process. Prolonged domino sequences also allowed the expeditious preparation of a series of pyrazolopyridine and pyridopyrimidine heterocycles.

Review of the photo-induced toxicity of environmental contaminants.

PubMed

Roberts, Aaron P; Alloy, Matthew M; Oris, James T

2017-01-01

Solar radiation is a vital component of ecosystem function. However, sunlight can also interact with certain xenobiotic compounds in a phenomenon known as photo-induced, photo-enhanced, photo-activated, or photo-toxicity. This phenomenon broadly refers to an interaction between a chemical and sunlight resulting in increased toxicity. Because most aquatic ecosystems receive some amount of sunlight, co-exposure to xenobiotic chemicals and solar radiation is likely to occur in the environment, and photo-induced toxicity may be an important factor impacting aquatic ecosystems. However, photo-induced toxicity is not likely to be relevant in all aquatic systems or exposure scenarios due to variation in important ecological factors as well as physiological adaptations of the species that reside there. Here, we provide an updated review of the state of the science of photo-induced toxicity in aquatic ecosystems. Copyright © 2016 Elsevier Inc. All rights reserved.

Noninvasive Localization of Accessory Pathways in Wolff-Parkinson-White Syndrome by Three-Dimensional Speckle Tracking Echocardiography.

PubMed

Ishizu, Tomoko; Seo, Yoshihiro; Igarashi, Miyako; Sekiguchi, Yukio; Machino-Ohtsuka, Tomoko; Ogawa, Kojiro; Kuroki, Kenji; Yamamoto, Masahiro; Nogami, Akihiko; Kawakami, Yasushi; Aonuma, Kazutaka

2016-06-01

We have developed a noninvasive isochrone activation imaging (AI) system with 3-dimensional (3D) speckle tracking echocardiography (STE), which allows visualization of the wavefront image of mechanical propagation of the accessory pathway (ACP) in Wolff-Parkinson-White syndrome. Patients with manifest Wolff-Parkinson-White syndrome were imaged in 3D-STE AI mode, which quantified the time from QRS onset to regional endocardial deformation. In 2 patients with left- and right-side ACP, we confirmed that intraoperative contact endocardial electric mapping and the 3D-STE AI system showed comparable images pre- and postablation. In normal heart assessment by 3D-echo AI, the earliest activation sites were found at the attachment of the papillary muscles in the left ventricle and midseptum in the right ventricle, and none showed earliest activation at the peri-atrioventricular valve annuli. An analyzer who was unaware of the clinical information assessed 39 ACP locations in 38 Wolff-Parkinson-White syndrome patients using 3D-STE. All showed abnormal perimitral or tricuspid annular activations, and the location of 34 ACP (87%) showed agreement with the successful ablation sites within a 2-o'clock range. Especially for left free wall ACP, 17/18 (94%) showed consistency with the ablation site within a 2 o'clock range. Among 15 ACP at the ventricular septum, 9 (60%) showed early local activation in both right and left sides of the septum. Isochrone AI with 3D-STE may be a promising noninvasive imaging tool to assess cardiac synchronized activation in normal hearts and detect abnormal breakthrough of mechanical activation from both atrioventricular annuli in Wolff-Parkinson-White syndrome. © 2016 American Heart Association, Inc.

The Discovery of Binary Asteroid 5674 Wolff at Isaac Aznar Observatory

NASA Astrophysics Data System (ADS)

Aznar Macias, Amadeo; Pravec, Petr; Oey, Julian; Groom, Roger

2016-07-01

We report on the discovery that minor planet 5674 Wolff is a fully-synchronous binary system with an orbital period of 93.7 ± 0.2 h. The combined primary+secondary rotation amplitude is 0.52 ± 0.02 mag. A lower limit on the secondary-to-primary mean diameter ratio is D2/D1 = 0.80.

Immunoglobulin λ Gene Rearrangement Can Precede κ Gene Rearrangement

DOE PAGES

Berg, Jörg; Mcdowell, Mindy; Jäck, Hans-Martin; ...

1990-01-01

Imore » mmunoglobulin genes are generated during differentiation of B lymphocytes by joining gene segments. A mouse pre-B cell contains a functional immunoglobulin heavy-chain gene, but no light-chain gene. Although there is only one heavy-chain locus, there are two lightchain loci: κ and λ .t has been reported that κ loci in the germ-line configuration are never (in man) or very rarely (in the mouse) present in cells with functionally rearranged λ -chain genes. Two explanations have been proposed to explain this: (a) the ordered rearrangement theory, which postulates that light-chain gene rearrangement in the pre-B cell is first attempted at the κ locus, and that only upon failure to produce a functional κ chain is there an attempt to rearrange the λ locus; and (b) the stochastic theory, which postulates that rearrangement at the λ locus proceeds at a rate that is intrinsically much slower than that at the κ locus. We show here that λ -chain genes are generated whether or not the κ locus has lost its germ-line arrangement, a result that is compatible only with the stochastic theory.« less

Measurements of Photo-induced Changes in Conjugated Polymers

DOE R&D Accomplishments Database

Seager, C. H.; Sinclair, M. B.; Mc Branch, D.; Heeger, A. J.; Baker, G. L.

1991-01-01

We have used the highly sensitive technique of Photothermal Deflection Spectroscopy (PDS) to measure changes in the infrared absorption spectra of MEHPPV, P3HT and Polydiacetylene-4BCMU induced by pumping these polymers with light above the {pi} - {pi}* transition energy. In contrast to previous chopped light transmission measurements of these effects, the PDS technique can directly measure the buildup or decay of the absorption coefficient, {alpha}, on the time scale of second to days. In the case of MEHPPV we observe that the time scale of seconds to days. In the case of MEHPPV we observe that above-gap light causes the appearance of a broad infrared peak in {alpha}, which continues to grow-in hours after the pump light is first applied. For this polymer the general shape of the absorption spectra in the unpumped state mimics the photo-induced changes, suggesting that remnant photo-induced states determine the maximum transparency observed under normal experimental conditions. For P3HT and to a lesser extent, MEHPPV, we also observe irreversible photo-induced absorption components which we tentatively identify with photo-induced oxidation of the polymer matrix.

Photoinduced diffusion molecular transport

DOE Office of Scientific and Technical Information (OSTI.GOV)

Rozenbaum, Viktor M., E-mail: vik-roz@mail.ru, E-mail: litrakh@gmail.com; Dekhtyar, Marina L.; Lin, Sheng Hsien

2016-08-14

We consider a Brownian photomotor, namely, the directed motion of a nanoparticle in an asymmetric periodic potential under the action of periodic rectangular resonant laser pulses which cause charge redistribution in the particle. Based on the kinetics for the photoinduced electron redistribution between two or three energy levels of the particle, the time dependence of its potential energy is derived and the average directed velocity is calculated in the high-temperature approximation (when the spatial amplitude of potential energy fluctuations is small relative to the thermal energy). The thus developed theory of photoinduced molecular transport appears applicable not only to conventionalmore » dichotomous Brownian motors (with only two possible potential profiles) but also to a much wider variety of molecular nanomachines. The distinction between the realistic time dependence of the potential energy and that for a dichotomous process (a step function) is represented in terms of relaxation times (they can differ on the time intervals of the dichotomous process). As shown, a Brownian photomotor has the maximum average directed velocity at (i) large laser pulse intensities (resulting in short relaxation times on laser-on intervals) and (ii) excited state lifetimes long enough to permit efficient photoexcitation but still much shorter than laser-off intervals. A Brownian photomotor with optimized parameters is exemplified by a cylindrically shaped semiconductor nanocluster which moves directly along a polar substrate due to periodically photoinduced dipole moment (caused by the repetitive excited electron transitions to a non-resonant level of the nanocylinder surface impurity).« less

Photo-induced intersubband absorption in {Si}/{SiGe} quantum wells

NASA Astrophysics Data System (ADS)

Boucaud, P.; Gao, L.; Visocekas, F.; Moussa, Z.; Lourtioz, J.-M.; Julien, F. H.; Sagnes, I.; Campidelli, Y.; Badoz, P.-A.; Vagos, P.

1995-12-01

We have investigated photo-induced intersubband absorption in the valence band of {Si}/{SiGe} quantum wells. Carriers are optically generated in the quantum wells using an argon ion laser. The resulting infrared absorption is probed with a step-scan Fourier transform infrared spectrometer. The photo-induced infrared absorption in SiGe quantum wells is dominated by two contributions: the free carrier absorption, which is similar to bulk absorption in a uniformly doped SiGe layer, and the valence subband absorption in the quantum wells. Both p- and s-polarized intersubband absorptions are measured. We have observed that the photo-induced intersubband absorption in doped samples is shifted to lower energy as compared to direct intersubband absorption. This absorption process is attributed to carriers away from the Brillouin zone center. We show that the photo-induced technique is appropriate to study valence band mixing effects and their influence on intersubband absorption.

Photonic switching based on the photoinduced birefringence in bacteriorhodopsin films

NASA Astrophysics Data System (ADS)

Huang, Yuhua; Wu, Shin-Tson; Zhao, Youyuan

2004-03-01

Photoinduced birefringence in bacteriorhodopsin films was investigated using pump-probe method and its application for photonic switching explored. A diode-pumped second-harmonic YAG laser was used as a pumping beam and a diode laser at λ=660 nm was used as a probing beam. The pump and probe beams overlap at the sample. Without the pumping beam, the probing light cannot transmit the analyzer to the detector. However, due to the photoinduced anisotropy, a portion of the probing light is detected when the pumping beam is present. Since λ=660 nm is far from the absorption peak (˜570 nm) of the ground state, the photoinduced birefringence predominates. Using the intensity-dependent photoinduced birefringence in a bacteriorhodopsin film, we have demonstrated a photonic switch with ˜1000:1 contrast ratio, ˜0.6 s rise time and ˜1.5 s decay time.

Concomitant Wolff-Parkinson-White and Atrioventricular Nodal Reentrant Tachycardia: Which Pathway to Ablate?

PubMed

Sarsam, Sinan; Sidiqi, Ibrahim; Shah, Dipak; Zughaib, Marcel

2015-12-11

Atrioventricular nodal reentrant tachycardia (AVNRT) is the most common form of supraventricular tachycardia. In contrast, Wolff-Parkinson-White (WPW) pattern consists of an accessory pathway, which may result in the development of ventricular arrhythmias. Frequent tachycardia caused by AVNRT and accessory pathways may play a role in left ventricular systolic dysfunction. A 54-year-old man presented with palpitations and acute decompensated congestive heart failure. His baseline EKG showed Wolff-Parkinson-White (WPW) pattern. While hospitalized, he had an episode of atrioventricular nodal reentrant tachycardia (AVNRT). He underwent radiofrequency catheter ablation for AVNRT, and his accessory pathway was also ablated even though its conduction was found to be weak. He was clinically doing well on follow-up visit, with resolution of his heart failure symptoms and normalization of left ventricular function on echocardiography. This case raises the question whether the accessory pathway plays a role in the development of systolic dysfunction, and if there is any role for ablation in patients with asymptomatic WPW pattern.

Photoinduced currents in pristine and ion irradiated kapton-H polyimide

NASA Astrophysics Data System (ADS)

Sharma, Anu; Sridharbabu, Y.; Quamara, J. K.

2014-10-01

The photoinduced currents in pristine and ion irradiated kapton-H polyimide have been investigated for different applied electric fields at 200°C. Particularly the effect of illumination intensity on the maximum current obtained as a result of photoinduced polarization has been studied. Samples were irradiated by using PELLETRON facility, IUAC, New Delhi. The photo-carrier charge generation depends directly on intensity of illumination. The samples irradiated at higher fluence show a decrease in the peak current with intensity of illumination. The secondary radiation induced crystallinity (SRIC) is responsible for the increase in maximum photoinduced currents generated with intensity of illumination.

Photoinduced currents in pristine and ion irradiated kapton-H polyimide

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sharma, Anu, E-mail: sharmaanu81@gmail.com; Sridharbabu, Y., E-mail: sharmaanu81@gmail.com; Quamara, J. K., E-mail: sharmaanu81@gmail.com

2014-10-15

The photoinduced currents in pristine and ion irradiated kapton-H polyimide have been investigated for different applied electric fields at 200°C. Particularly the effect of illumination intensity on the maximum current obtained as a result of photoinduced polarization has been studied. Samples were irradiated by using PELLETRON facility, IUAC, New Delhi. The photo-carrier charge generation depends directly on intensity of illumination. The samples irradiated at higher fluence show a decrease in the peak current with intensity of illumination. The secondary radiation induced crystallinity (SRIC) is responsible for the increase in maximum photoinduced currents generated with intensity of illumination.

Prophylactic accessory-pathway ablation in asymptomatic patients with a Wolff-Parkinson-White electrocardiographic pattern.

PubMed

Ozenc, S; Iscen, S; Kibrisli, E; Tok, D; Parlak, A; Altinel, O; Altinel, S

2014-01-01

The optimal approach is controversial in asymptomatic patients who are coincidentally found to have evidence of an accessory pathway (AP) on an ECG. The risk of sudden cardiac death (SCD) is low, and the risk of developing symptoms also appears to be low, although a wide range of incidences have been reported. In our trial, we tested the hypothesis that if prophylactic accessory-pathway ablation performed at the time of the initial electrophysiological testing would improve the long-term outcome in asymptomatic patients with a Wolff-Parkinson-White electrocardiographic pattern. Recruitment of patients began on February 1, 2004, and ended on February 5, 2009. All 110 asymptomatic patients were hospitalized and underwent electrophysiological testing the same day to assess the inducibility of atrioventricular reciprocating tachycardia. The anterograde effective refractory period of the accessory pathway was defined as the longest coupling interval at which anterograde block in the bypass tract was observed. For the statistical analysis, the statistical software SPSS version 15.0 for Windows (SPSS Inc., Chicago, IL, USA). Of 110 asymptomatic patients with a Wolff-Parkinson-White electrocardiographic pattern, 80 patients were ablated. Ablation group consisted of these patients. Control group consisted of remaining 30 and were divided into two groups according to the anterograde effective refractory period of the accessory pathway. There was no significant difference between three groups in terms of arrhythmic events (p: 0.58). Asymptomatic patients with the Wolff-Parkinson-White syndrome do not require prophylactic ablation, since they remain asymptomatic for many years.

In pursuit of photo-induced magnetic and chiral microscopy

NASA Astrophysics Data System (ADS)

Zeng, Jinwei; Kamandi, Mohammad; Darvishzadeh-Varcheie, Mahsa; Albooyeh, Mohammad; Veysi, Mehdi; Guclu, Caner; Hanifeh, Mina; Rajaei, Mohsen; Potma, Eric O.; Wickramasinghe, H. Kumar; Capolino, Filippo

2018-06-01

Light-matter interactions enable the perception of specimen properties such as its shape and dimensions by measuring the subtle differences carried by an illuminating beam after interacting with the sample. However, major obstacles arise when the relevant properties of the specimen are weakly coupled to the incident beam, for example when measuring optical magnetism and chirality. To address this challenge we propose the idea of detecting such weakly-coupled properties of matter through the photo-induced force, aiming at developing photo-induced magnetic or chiral force microscopy. Here we review our pursuit consisting of the following steps: (1) Development of a theoretical blueprint of a magnetic nanoprobe to detect a magnetic dipole oscillating at an optical frequency when illuminated by an azimuthally polarized beam via the photo-induced magnetic force; (2) Conducting an experimental study using an azimuthally polarized beam to probe the near fields and axial magnetism of a Si disk magnetic nanoprobe, based on photo-induced force microscopy; (3) Extending the concept of force microscopy to probe chirality at the nanoscale, enabling enantiomeric detection of chiral molecules. Finally, we discuss difficulties and how they could be overcome, as well as our plans for future work. Invited Paper

Subjectivity and Cultural Adjustment in Mathematics Education: A Response to Wolff-Michael Roth

ERIC Educational Resources Information Center

Brown, Tony

2012-01-01

In this volume, Wolff-Michael Roth provides a critical but partial reading of Tony Brown's book "Mathematics Education and Subjectivity". The reading contrasts Brown's approach with Roth's own conception of subjectivity as derived from the work of Vygotsky, in which Roth aims to "reunite" psychology and sociology. Brown's book, however, focuses on…

Wolff-Parkinson-White syndrome in the era of catheter ablation: insights from a registry study of 2169 patients.

PubMed

Pappone, Carlo; Vicedomini, Gabriele; Manguso, Francesco; Saviano, Massimo; Baldi, Mario; Pappone, Alessia; Ciaccio, Cristiano; Giannelli, Luigi; Ionescu, Bogdan; Petretta, Andrea; Vitale, Raffaele; Cuko, Amarild; Calovic, Zarko; Fundaliotis, Angelica; Moscatiello, Mario; Tavazzi, Luigi; Santinelli, Vincenzo

2014-09-02

The management of Wolff-Parkinson-White is based on the distinction between asymptomatic and symptomatic presentations, but evidence is limited in the asymptomatic population. The Wolff-Parkinson-White registry was an 8-year prospective study of either symptomatic or asymptomatic Wolff-Parkinson-White patients referred to our Arrhythmology Department for evaluation or ablation. Inclusion criteria were a baseline electrophysiological testing with or without radiofrequency catheter ablation (RFA). Primary end points were the percentage of patients who experienced ventricular fibrillation (VF) or potentially malignant arrhythmias and risk factors. Among 2169 enrolled patients, 1001 (550 asymptomatic) did not undergo RFA (no-RFA group) and 1168 (206 asymptomatic) underwent ablation (RFA group). There were no differences in clinical and electrophysiological characteristics between the 2 groups except for symptoms. In the no-RFA group, VF occurred in 1.5% of patients, virtually exclusively (13 of 15) in children (median age, 11 years), and was associated with a short accessory pathway antegrade refractory period (P<0.001) and atrioventricular reentrant tachycardia initiating atrial fibrillation (P<0.001) but not symptoms. In the RFA group, ablation was successful in 98.5%, and after RFA, no patients developed malignant arrhythmias or VF over the 8-year follow-up. Untreated patients were more likely to experience malignant arrhythmias and VF (log-rank P<0.001). Time-dependent receiver-operating characteristic curves for predicting VF identified an optimal anterograde effective refractory period of the accessory pathway cutoff of 240 milliseconds. The prognosis of the Wolff-Parkinson-White syndrome essentially depends on intrinsic electrophysiological properties of AP rather than on symptoms. RFA performed during the same procedure after electrophysiological testing is of benefit in improving the long-term outcomes. © 2014 American Heart Association, Inc.

2-Diazo-1-(4-hydroxyphenyl)ethanone: A Versatile Photochemical and Synthetic Reagenta

PubMed Central

Senadheera, Sanjeewa N.; Evans, Anthony S.; Toscano, John P.; Givens, Richard S.

2014-01-01

α-Diazo arylketones are well-known substrates for Wolff rearrangement to phenylacetic acids through a ketene intermediate by either thermal or photochemical activation. Likewise, α-substituted p-hydroxyphenacyl (pHP) esters are substrates for photo-Favorskii rerrangements to phenylacetic acids by a different pathway that purportedly involves a cyclopropanone intermediate. In this paper, we show that the photolysis of a series of α-diazo-p-hydroxyacetophenones and p-hydroxyphenacyl (pHP) α-esters both generate the identical rearranged phenylacetates as major products. Since α-diazo-p-hydroxyacetophenone (1a, pHP N2) contains all the necessary functionalities for either Wolff or Favorskii rearrangement, we were prompted to probe this intriguing mechanistic dichotomy under conditions favorable to the photo-Favorskii reangement, i.e., photolysis in hydroxylic media. An investigation of the mechanism for conversion of 1a to p-hydroxyphenyl acetic acid (4a) using time-resolved infrared (TRIR) spectroscopy clearly demonstrates the formation of a ketene intermediate that is subsequently trapped by solvent or nucleophiles. The photoreaction of 1a is quenched by oxygen and sensitized by triplet sensitizers and the quantum yields for 1a–c range from 0.19 to a robust 0.25. The lifetime of the triplet, determined by Stern-Volmer quenching, is 15 ns with a rate for appearance of 4a of k = 7,1 × 106 s−1 in aq. acetonitrile (1:1 v:v). These studies establish that the primary rearrangement pathway for 1a involves ketene formation in accordance with the photo-Wolff rearrangement. Furthermore we have also demonstrated the synthetic utility of 1a as an esterification and etherification reagent with a variety of substituted α-diazo-p-hydroxyacetophenones, using them as synthons for efficiently coupling it to acids and phenols to produce pHP protect substrates. PMID:24305682

Wolff-Parkinson-White syndrome: a single exercise stress test might be misleading.

PubMed

Salavitabar, Arash; Silver, Eric S; Liberman, Leonardo

2017-05-01

Risk stratification of patients with Wolff-Parkinson-White syndrome for sudden death is a complex process, particularly in understanding the utility of the repeat exercise stress test. We report a case of an 18-year-old patient who was found to have a high-risk pathway by both invasive and exercise stress testing after an initial exercise stress test showing beat-to-beat loss of pre-excitation.

Wolff-Michael Roth's passibility: at the limits of the constructivist metaphor: a book review

NASA Astrophysics Data System (ADS)

Brendel, Michelle

2014-12-01

Wolff-Michael Roth deconstructs the preeminent role conceded to constructivism in Science Education and demonstrates how we learn and know through pain, suffering, love or passion. This review explores his book "Passibility: At the Limits of the Constructivist Metaphor" through the eyes of an outsider to the world of science education.

Malignant vasovagal syndrome in two patients with Wolff-Parkinson-White syndrome

PubMed Central

Gandhi, N M; Bennett, D H

2004-01-01

The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their typical symptoms with a fall in blood pressure and heart rate confirming the diagnosis of malignant vasovagal syndrome. PMID:15020537

Study on the photo-induced oxygen reordering in YBa2Cu3O6+x

NASA Astrophysics Data System (ADS)

Milić, M. M.; Lazarov, N. Dj.; Cucić, D. A.

2012-05-01

Effect of the long term illumination of the YBa2Cu3O6+x with visible light or ultraviolet irradiation on its superconducting properties was studied in the frame of a simple theoretical model, which assumes that photodoping triggers rearrangement of oxygen monomers in the chain layers thus causing the enhancement of the average chain length, lav. Since, according to the model of charge transfer mechanism, long CuO chains are better electronic hole donors than the short ones, increase of the average chain length induces additional holes transfer from chain layers to the superconducting CuO2 planes which in turn leads to the increase of the superconducting transition temperature Tc. By the use of the expression for the chain length probability distribution and numerically calculated values for the average chain length in the non-excited system, we were able to estimate the doping p (number of holes per one Cu atom in the superconducting CuO2 planes) and Tc enhancement due to photo-induced oxygen reordering. The theoretical results are compared with available experimental data.

Cardiac memory in patients with Wolff-Parkinson-White syndrome: noninvasive imaging of activation and repolarization before and after catheter ablation.

PubMed

Ghosh, Subham; Rhee, Edward K; Avari, Jennifer N; Woodard, Pamela K; Rudy, Yoram

2008-08-26

Cardiac memory refers to a change in ventricular repolarization induced by and persisting for minutes to months after cessation of a period of altered ventricular activation (eg, resulting from pacing or preexcitation in patients with Wolff-Parkinson-White syndrome). ECG imaging (ECGI) is a novel imaging modality for noninvasive electroanatomic mapping of epicardial activation and repolarization. Fourteen pediatric patients with Wolff-Parkinson-White syndrome and no other congenital disease, were imaged with ECGI a day before and 45 minutes, 1 week, and 1 month after successful catheter ablation. ECGI determined that preexcitation sites were consistent with sites of successful ablation in all cases to within a 1-hour arc of each atrioventricular annulus. In the preexcited rhythm, activation-recovery interval (ARI) was the longest (349+/-6 ms) in the area of preexcitation leading to high average base-to-apex ARI dispersion of 95+/-9 ms (normal is approximately 40 ms). The ARI dispersion remained the same 45 minutes after ablation, although the activation sequence was restored to normal. ARI dispersion was still high (79+/-9 ms) 1 week later and returned to normal (45+/-6 ms) 1 month after ablation. The study demonstrates that ECGI can noninvasively localize ventricular insertion sites of accessory pathways to guide ablation and evaluate its outcome in pediatric patients with Wolff-Parkinson-White syndrome. Wolff-Parkinson-White is associated with high ARI dispersion in the preexcited rhythm that persists after ablation and gradually returns to normal over a period of 1 month, demonstrating the presence of cardiac memory. The 1-month time course is consistent with transcriptional reprogramming and remodeling of ion channels.

Manipulating photoinduced voltage in metasurface with circularly polarized light.

PubMed

Bai, Qiang

2015-02-23

Recently, the concept of metasurface has provided one an unprecedented opportunity and ability to control the light in the deep subwavelength scale. However, so far most efforts are devoted to exploiting the novel scattering properties and applications of metasurface in optics. Here, I theoretically and numerically demonstrate that longitudinal and transverse photoinduced voltages can be simultaneously realized in the proposed metasurface utilizing the magnetic resonance under the normal incidence of circularly polarized light, which may extend the concept and functionality of metasurface into the electronics and may provide a potential scheme to realize a nanoscale tunable voltage source through a nanophotonic roadmap. The signs of longitudinal and transverse photoin-duced voltages can be manipulated by tuning the resonant frequency and the handedness of circularly polarized light, respectively. Analytical formulae of photoinduced voltage are presented based on the theory of symmetry of field. This work may bridge nanophotonics and electronics, expands the capability of metasurface and has many potential applications.

Photoinduced doping in heterostructures of graphene and boron nitride.

PubMed

Ju, L; Velasco, J; Huang, E; Kahn, S; Nosiglia, C; Tsai, Hsin-Zon; Yang, W; Taniguchi, T; Watanabe, K; Zhang, Y; Zhang, G; Crommie, M; Zettl, A; Wang, F

2014-05-01

The design of stacks of layered materials in which adjacent layers interact by van der Waals forces has enabled the combination of various two-dimensional crystals with different electrical, optical and mechanical properties as well as the emergence of novel physical phenomena and device functionality. Here, we report photoinduced doping in van der Waals heterostructures consisting of graphene and boron nitride layers. It enables flexible and repeatable writing and erasing of charge doping in graphene with visible light. We demonstrate that this photoinduced doping maintains the high carrier mobility of the graphene/boron nitride heterostructure, thus resembling the modulation doping technique used in semiconductor heterojunctions, and can be used to generate spatially varying doping profiles such as p-n junctions. We show that this photoinduced doping arises from microscopically coupled optical and electrical responses of graphene/boron nitride heterostructures, including optical excitation of defect transitions in boron nitride, electrical transport in graphene, and charge transfer between boron nitride and graphene.

Asymptomatic Wolff-Parkinson-White Pattern ECG in USAF Aviators.

PubMed

Davenport, Eddie D; Rupp, Karen A N; Palileo, Edwin; Haynes, Jared

2017-01-01

Wolff-Parkinson-White (WPW) pattern is occasionally found in asymptomatic aviators during routine ECGs. Aeromedical concerns regarding WPW pattern include risk of dysrhythmia or sudden cardiac death (SCD), thus affecting the safety of flight. The purpose of this study was to determine the prevalence and outcomes of aviators with asymptomatic WPW pattern and assess for risk factors that contribute to progression to dysrhythmia or symptoms. The U.S. Air Force (USAF) ECG library database containing over 1.2 million ECGs collected over the past 68 yr was used to identify 638 individual aviators with WPW pattern. Demographic, medical history, and outcome data were obtained by medical record review. Aviators who developed high risk features defined as symptoms, arrhythmia, or ablation of a high risk pathway, were compared to those who remained asymptomatic. Prevalence of WPW pattern was 0.30% among all USAF aviators. Of the 638 individuals, 64 (10%) progressed to the combined endpoint of SCD, arrhythmia, and/or ablation of a high risk pathway over 6868 patient years, with average follow-up of 10.5 yr. There were two sudden cardiac deaths (0.3%). Annual risk of possible sudden incapacitation was 0.95% and of SCD 0.03%. Those that progressed to high risk were significantly younger, had lower diastolic blood pressure, lower total cholesterol, and better physical fitness testing scores. WPW pattern on ECG found in asymptomatic aviators confers < 1% annual risk of arrhythmia or incapacitating events with the highest risk in the younger, healthier, and most fit populations.Davenport ED, Rupp KAN, Palileo E, Haynes J. Asymptomatic Wolff-Parkinson-White pattern ECG in USAF aviators. Aerosp Med Hum Perform. 2017; 88(1):56-60.

Photoinduced Biohydrogen Production from Biomass

PubMed Central

Amao, Yutaka

2008-01-01

Photoinduced biohydrogen production systems, coupling saccharaides biomass such as sucrose, maltose, cellobiose, cellulose, or saccharides mixture hydrolysis by enzymes and glucose dehydrogenase (GDH), and hydrogen production with platinum colloid as a catalyst using the visible light-induced photosensitization of Mg chlorophyll-a (Mg Chl-a) from higher green plant or artificial chlorophyll analog, zinc porphyrin, are introduced. PMID:19325796

Finding local genome rearrangements.

PubMed

Simonaitis, Pijus; Swenson, Krister M

2018-01-01

The double cut and join (DCJ) model of genome rearrangement is well studied due to its mathematical simplicity and power to account for the many events that transform gene order. These studies have mostly been devoted to the understanding of minimum length scenarios transforming one genome into another. In this paper we search instead for rearrangement scenarios that minimize the number of rearrangements whose breakpoints are unlikely due to some biological criteria. One such criterion has recently become accessible due to the advent of the Hi-C experiment, facilitating the study of 3D spacial distance between breakpoint regions. We establish a link between the minimum number of unlikely rearrangements required by a scenario and the problem of finding a maximum edge-disjoint cycle packing on a certain transformed version of the adjacency graph. This link leads to a 3/2-approximation as well as an exact integer linear programming formulation for our problem, which we prove to be NP-complete. We also present experimental results on fruit flies, showing that Hi-C data is informative when used as a criterion for rearrangements. A new variant of the weighted DCJ distance problem is addressed that ignores scenario length in its objective function. A solution to this problem provides a lower bound on the number of unlikely moves necessary when transforming one gene order into another. This lower bound aids in the study of rearrangement scenarios with respect to chromatin structure, and could eventually be used in the design of a fixed parameter algorithm with a more general objective function.

Evaluation and Management of Wolff-Parkinson-White in Athletes

PubMed Central

Rao, Ashwin L.; Salerno, Jack C.; Asif, Irfan M.; Drezner, Jonathan A.

2014-01-01

Context: Wolff-Parkinson-White (WPW) is a cardiac conduction system disorder characterized by abnormal accessory conduction pathways between the atria and the ventricles. Symptomatic patients classically present with palpitations, presyncope, or syncope that results from supraventricular tachycardia. While rare, sudden cardiac death may be the first manifestation of underlying disease and occurs more frequently in exercising individuals. Evidence Acquisition: Medline and PubMed databases were evaluated through 2012, with the following keywords: WPW, Wolff-Parkinson-White, pre-excitation, sudden cardiac death, risk stratification, and athletes. Selected articles identified through the primary search, along with relevant references from those articles, were reviewed for pertinent clinical information regarding the identification, evaluation, risk stratification, and management of WPW as they pertained to the care of athletes. Study Design: Systematic review. Level of Evidence: Level 1. Results: Diagnosis of WPW is confirmed by characteristic electrocardiogram changes, which include a delta wave, short PR interval, and widened QRS complex. Utilization of the electrocardiogram as part of the preparticipation physical evaluation may allow for early identification of asymptomatic individuals with a WPW pattern. Risk stratification techniques identify individuals at risk for malignant arrhythmias who may be candidates for curative therapy through transcatheter ablation. Conclusion: WPW accounts for at least 1% of sudden death in athletes and has a prevalence of at least 1 to 4.5 per 1000 children and adults. The risk of lethal arrhythmia appears to be higher in asymptomatic children than in adults, and sudden cardiac death is often the sentinel event. The athlete with WPW should be evaluated for symptoms and the presence of intermittent or persistent pre-excitation, which dictates further consultation, treatment, and monitoring strategies as well as return to play. PMID

Photoinduced random molecular reorientation by nonradiative energy relaxation: An experimental test

NASA Astrophysics Data System (ADS)

Manzo, C.; Paparo, D.; Marrucci, L.

2004-11-01

By measuring the time-resolved fluorescence depolarization as a function of light excitation wavelength we address the question of a possible photoinduced orientational randomization of amino-anthraquinone dyes in liquid solutions. We find no significant dependence within the experimental uncertainties of both the initial molecule anisotropy and of the subsequent rotational diffusion dynamics on the photon energy. This indicates that this effect, if present, must be very small. A simple model of photoinduced local heating and corresponding enhanced rotational diffusion is in accordance with this result. This null result rules out some recent proposals that photoinduced local heating may contribute significantly to molecular reorientation effects in different materials. A small but statistically significant effect of photon energy is instead found in the excited-state lifetime of the dye.

Normalization of reverse redistribution of thallium-201 with procainamide pretreatment in Wolff-Parkinson-White syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Nii, T.; Nakashima, Y.; Nomoto, J.

1991-03-01

Stress thallium-201 myocardial perfusion imaging was performed in a patient with Wolff-Parkinson-White syndrome. Reverse redistribution phenomenon was observed in the absence of coronary artery disease. This seems to be the first report of normalization of this phenomenon in association with reversion of accessory pathway to normal atrioventricular conduction after pretreatment with procainamide.

Degradations and Rearrangement Reactions

NASA Astrophysics Data System (ADS)

Zhang, Jianbo

This section deals with recent reports concerning degradation and rearrangement reactions of free sugars as well as some glycosides. The transformations are classified in chemical and enzymatic ways. In addition, the Maillard reaction will be discussed as an example of degradation and rearrangement transformation and its application in current research in the fields of chemistry and biology.

Metallocene-Containing Homopolymers and Heterobimetallic Block Copolymers via Photoinduced RAFT Polymerization

PubMed Central

Yang, Peng; Pageni, Parasmani; Kabir, Mohammad Pabel; Zhu, Tianyu; Tang, Chuanbing

2017-01-01

We report the synthesis of cationic cobaltocenium and neutral ferrocene containing homopolymers mediated by photoinduced reversible addition-fragmentation chain transfer (RAFT) polymerization with a photocatalyst fac-[Ir(ppy)3]. The homopolymers were further used as macromolecular chain transfer agents to synthesize diblock copolymers via chain extension. Controlled/“living” feature of photoinduced RAFT polymerization was confirmed by kinetic studies even without prior deoxygenation. A light switch between ON and OFF provided a spatiotemporal control of polymerization. PMID:29276651

Control of the orientation and photoinduced phase transitions of macrocyclic azobenzene.

PubMed

Uchida, Emi; Sakaki, Kouji; Nakamura, Yumiko; Azumi, Reiko; Hirai, Yuki; Akiyama, Haruhisa; Yoshida, Masaru; Norikane, Yasuo

2013-12-16

Photoinduced phase transitions caused by photochromic reactions bring about a change in the state of matter at constant temperature. Herein, we report the photoinduced phase transitions of crystals of a photoresponsive macrocyclic compound bearing two azobenzene groups (1) at room temperature on irradiation with UV (365 nm) and visible (436 nm) light. The trans/trans isomer undergoes photoinduced phase transitions (crystal-isotropic phase-crystal) on UV light irradiation. The photochemically generated crystal exhibited reversible phase transitions between the crystal and the mesophase on UV and visible light irradiation. The molecular order of the randomly oriented crystals could be increased by irradiating with linearly polarized visible light, and the value of the order parameter was determined to be -0.84. Heating enhances the thermal cis-to-trans isomerization and subsequent cooling returned crystals of the trans/trans isomer. Copyright © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

A Wolff in sheep's clothing: trabecular bone adaptation in response to changes in joint loading orientation.

PubMed

Barak, Meir M; Lieberman, Daniel E; Hublin, Jean-Jacques

2011-12-01

This study tests Wolff's law of trabecular bone adaptation by examining if induced changes in joint loading orientation cause corresponding adjustments in trabecular orientation. Two groups of sheep were exercised at a trot, 15 min/day for 34 days on an inclined (7°) or level (0°) treadmills. Incline trotting caused the sheep to extend their tarsal joints by 3-4.5° during peak loading (P<0.01) but has no effect on carpal joint angle (P=0.984). Additionally, tarsal joint angle in the incline group sheep were maintained more extended throughout the day using elevated platform shoes on their forelimbs. A third "sedentary group" group did not run but wore platform shoes throughout the day. As predicted by Wolff's law, trabecular orientation in the distal tibia (tarsal joint) were more obtuse by 2.7 to 4.3° in the incline group compared to the level group; trabecular orientation was not significantly different in the sedentary and level groups. In addition, trabecular orientations in the distal radius (carpal joint) of the sedentary, level and incline groups did not differ between groups, and were aligned almost parallel to the radius long axis, corresponding to the almost straight carpal joint angle at peak loading. Measurements of other trabecular bone parameters revealed additional responses to loading, including significantly higher bone volume fraction (BV/TV), Trabecular number (Tb.N) and trabecular thickness (Tb.Th), lower trabecular spacing (Tb.Sp), and less rod-shaped trabeculae (higher structure model index, SMI) in the exercised than sedentary sheep. Overall, these results demonstrate that trabecular bone dynamically adjusts and realigns itself in very precise relation to changes in peak loading direction, indicating that Wolff's law is not only accurate but also highly sensitive. Copyright © 2011 Elsevier Inc. All rights reserved.

Combinatorial structure of genome rearrangements scenarios.

PubMed

Ouangraoua, Aïda; Bergeron, Anne

2010-09-01

In genome rearrangement theory, one of the elusive questions raised in recent years is the enumeration of rearrangement scenarios between two genomes. This problem is related to the uniform generation of rearrangement scenarios and the derivation of tests of statistical significance of the properties of these scenarios. Here we give an exact formula for the number of double-cut-and-join (DCJ) rearrangement scenarios between two genomes. We also construct effective bijections between the set of scenarios that sort a component as well studied combinatorial objects such as parking functions, labeled trees, and prüfer codes.

Patient with Wolff-Parkinson-White syndrome with intermittent pre-excitation under subarachnoid block for urological surgery

PubMed Central

Garg, Rakesh; Sinha, Renu; Nishad, PK

2011-01-01

Wolff-Parkinson-White (WPW) syndrome is one of the pre-excitation syndromes in which activation of an accessory atrioventricular (AV) conduction pathway leads to bypass the AV node and cause earlier ventricular activation than the normal pathway. We report a patient with intermittent WPW syndrome who repeatedly manifested pre-excitation after subarachnoid block. PMID:21712875

Wolff-Parkinson-White Syndrome and Rheumatic Mitral Stenosis: an Uncommon Coincidence that can Cause Severe Hemodynamic Disturbance

PubMed Central

Alper, Ahmet Taha; Hasdemir, Hakan; Akyol, Ahmet

2008-01-01

The combination of rheumatic mitral stenosis and Wolff-Parkinson-White syndrome is a rare situation. In this case, we are reporting an 72-year-old man presenting with multi-organ failure due to the this combination and successfully treated with radiofrequency ablation during preexcitated atrial fibrillation. PMID:18982140

Afrobatrachian mitochondrial genomes: genome reorganization, gene rearrangement mechanisms, and evolutionary trends of duplicated and rearranged genes

PubMed Central

2013-01-01

Background Mitochondrial genomic (mitogenomic) reorganizations are rarely found in closely-related animals, yet drastic reorganizations have been found in the Ranoides frogs. The phylogenetic relationships of the three major ranoid taxa (Natatanura, Microhylidae, and Afrobatrachia) have been problematic, and mitogenomic information for afrobatrachians has not been available. Several molecular models for mitochondrial (mt) gene rearrangements have been proposed, but observational evidence has been insufficient to evaluate them. Furthermore, evolutionary trends in rearranged mt genes have not been well understood. To gain molecular and phylogenetic insights into these issues, we analyzed the mt genomes of four afrobatrachian species (Breviceps adspersus, Hemisus marmoratus, Hyperolius marmoratus, and Trichobatrachus robustus) and performed molecular phylogenetic analyses. Furthermore we searched for two evolutionary patterns expected in the rearranged mt genes of ranoids. Results Extensively reorganized mt genomes having many duplicated and rearranged genes were found in three of the four afrobatrachians analyzed. In fact, Breviceps has the largest known mt genome among vertebrates. Although the kinds of duplicated and rearranged genes differed among these species, a remarkable gene rearrangement pattern of non-tandemly copied genes situated within tandemly-copied regions was commonly found. Furthermore, the existence of concerted evolution was observed between non-neighboring copies of triplicated 12S and 16S ribosomal RNA regions. Conclusions Phylogenetic analyses based on mitogenomic data support a close relationship between Afrobatrachia and Microhylidae, with their estimated divergence 100 million years ago consistent with present-day endemism of afrobatrachians on the African continent. The afrobatrachian mt data supported the first tandem and second non-tandem duplication model for mt gene rearrangements and the recombination-based model for concerted

Accuracy of algorithms to predict accessory pathway location in children with Wolff-Parkinson-White syndrome.

PubMed

Wren, Christopher; Vogel, Melanie; Lord, Stephen; Abrams, Dominic; Bourke, John; Rees, Philip; Rosenthal, Eric

2012-02-01

The aim of this study was to examine the accuracy in predicting pathway location in children with Wolff-Parkinson-White syndrome for each of seven published algorithms. ECGs from 100 consecutive children with Wolff-Parkinson-White syndrome undergoing electrophysiological study were analysed by six investigators using seven published algorithms, six of which had been developed in adult patients. Accuracy and concordance of predictions were adjusted for the number of pathway locations. Accessory pathways were left-sided in 49, septal in 20 and right-sided in 31 children. Overall accuracy of prediction was 30-49% for the exact location and 61-68% including adjacent locations. Concordance between investigators varied between 41% and 86%. No algorithm was better at predicting septal pathways (accuracy 5-35%, improving to 40-78% including adjacent locations), but one was significantly worse. Predictive accuracy was 24-53% for the exact location of right-sided pathways (50-71% including adjacent locations) and 32-55% for the exact location of left-sided pathways (58-73% including adjacent locations). All algorithms were less accurate in our hands than in other authors' own assessment. None performed well in identifying midseptal or right anteroseptal accessory pathway locations.

Long-time relaxation of photo-induced influence on BiFeO3 thin films

NASA Astrophysics Data System (ADS)

Gu, Jun-xing; Jin, Kui-juan; Wang, Le; He, Xu; Guo, Hai-zhong; Wang, Can; He, Meng; Yang, Guo-zhen

2015-11-01

An intuitively persistent enhancement of the local surface potential of BiFeO3 layers in both heterostructures of BiFeO3/SrRuO3/SrTiO3 and BiFeO3/Sr0.09Nb0.01TiO3 was observed by the Kelvin probe force microscopy technique after the illumination of 375 nm laser. This photo-induced enhanced surface potential can maintain as long as 15 h after the illumination. We attributed this super-long-time relaxation of photo-induced influence to a photo-induced depolarization in the BiFeO3 thin films, and our first-principles calculation of double-potential well further provides an instinct understanding on this depolarization process. Our findings provide a peculiar understanding into the photo-induced phenomena on the widely researched ferroelectric systems and offer an approach to tune their multifunctionality of the magnetization and polarization not only by applied magnetic and electric fields but also by optical filed.

Claisen thermally rearranged (CTR) polymers

PubMed Central

Tena, Alberto; Rangou, Sofia; Shishatskiy, Sergey; Filiz, Volkan; Abetz, Volker

2016-01-01

Thermally rearranged (TR) polymers, which are considered the next-generation of membrane materials because of their excellent transport properties and high thermal and chemical stability, are proven to have significant drawbacks because of the high temperature required for the rearrangement and low degree of conversion during this process. We demonstrate that using a [3,3]-sigmatropic rearrangement, the temperature required for the rearrangement of a solid glassy polymer was reduced by 200°C. Conversions of functionalized polyimide to polybenzoxazole of more than 97% were achieved. These highly mechanically stable polymers were almost five times more permeable and had more than two times higher degrees of conversion than the reference polymer treated under the same conditions. Properties of these second-generation TR polymers provide the possibility of preparing efficient polymer membranes in a form of, for example, thin-film composite membranes for various gas and liquid membrane separation applications. PMID:27482538

Claisen thermally rearranged (CTR) polymers.

PubMed

Tena, Alberto; Rangou, Sofia; Shishatskiy, Sergey; Filiz, Volkan; Abetz, Volker

2016-07-01

Thermally rearranged (TR) polymers, which are considered the next-generation of membrane materials because of their excellent transport properties and high thermal and chemical stability, are proven to have significant drawbacks because of the high temperature required for the rearrangement and low degree of conversion during this process. We demonstrate that using a [3,3]-sigmatropic rearrangement, the temperature required for the rearrangement of a solid glassy polymer was reduced by 200°C. Conversions of functionalized polyimide to polybenzoxazole of more than 97% were achieved. These highly mechanically stable polymers were almost five times more permeable and had more than two times higher degrees of conversion than the reference polymer treated under the same conditions. Properties of these second-generation TR polymers provide the possibility of preparing efficient polymer membranes in a form of, for example, thin-film composite membranes for various gas and liquid membrane separation applications.

Rearrangements of organic peroxides and related processes

PubMed Central

Yaremenko, Ivan A; Vil’, Vera A; Demchuk, Dmitry V

2016-01-01

Summary This review is the first to collate and summarize main data on named and unnamed rearrangement reactions of peroxides. It should be noted, that in the chemistry of peroxides two types of processes are considered under the term rearrangements. These are conventional rearrangements occurring with the retention of the molecular weight and transformations of one of the peroxide moieties after O–O-bond cleavage. Detailed information about the Baeyer−Villiger, Criegee, Hock, Kornblum−DeLaMare, Dakin, Elbs, Schenck, Smith, Wieland, and Story reactions is given. Unnamed rearrangements of organic peroxides and related processes are also analyzed. The rearrangements and related processes of important natural and synthetic peroxides are discussed separately. PMID:27559418

Nanoscale chemical imaging by photoinduced force microscopy

PubMed Central

Nowak, Derek; Morrison, William; Wickramasinghe, H. Kumar; Jahng, Junghoon; Potma, Eric; Wan, Lei; Ruiz, Ricardo; Albrecht, Thomas R.; Schmidt, Kristin; Frommer, Jane; Sanders, Daniel P.; Park, Sung

2016-01-01

Correlating spatial chemical information with the morphology of closely packed nanostructures remains a challenge for the scientific community. For example, supramolecular self-assembly, which provides a powerful and low-cost way to create nanoscale patterns and engineered nanostructures, is not easily interrogated in real space via existing nondestructive techniques based on optics or electrons. A novel scanning probe technique called infrared photoinduced force microscopy (IR PiFM) directly measures the photoinduced polarizability of the sample in the near field by detecting the time-integrated force between the tip and the sample. By imaging at multiple IR wavelengths corresponding to absorption peaks of different chemical species, PiFM has demonstrated the ability to spatially map nm-scale patterns of the individual chemical components of two different types of self-assembled block copolymer films. With chemical-specific nanometer-scale imaging, PiFM provides a powerful new analytical method for deepening our understanding of nanomaterials. PMID:27051870

Design of Polymer Networks Involving a Photoinduced Electronic Transmission Circuit toward Artificial Photosynthesis.

PubMed

Okeyoshi, Kosuke; Kawamura, Ryuzo; Yoshida, Ryo; Osada, Yoshihito

2016-01-19

Many strategies have been explored to achieve artificial photosynthesis utilizing mediums such as liposomes and supramolecules. Because the photochemical reaction is composed of multiple functional molecules, the surrounding microenvironment is expected to be rationally integrated as observed during photosynthesis in chloroplasts. In this study, photoinduced electronic transmission surrounding the microenvironment of Ru(bpy)3(2+) in a polymer network was investigated using poly(N-isopropylacrylamide-co-Ru(bpy)3), poly(acrylamide-co-Ru(bpy)3), and Ru(bpy)3-conjugated microtubules. Photoinduced energy conversion was evaluated by investigating the effects of (i) Ru(bpy)3(2+) immobilization, (ii) polymer type, (iii) thermal energy, and (iv) cross-linking. The microenvironment surrounding copolymerized Ru(bpy)3(2+) in poly(N-isopropylacrylamide) suppressed quenching and had a higher radiative process energy than others. This finding is related to the nonradiative process, i.e., photoinduced H2 generation with significantly higher overall quantum efficiency (13%) than for the bulk solution. We envision that useful molecules will be generated by photoinduced electronic transmission in polymer networks, resulting in the development of a wide range of biomimetic functions with applications for a sustainable society.

A tandem cross-metathesis/semipinacol rearrangement reaction.

PubMed

Plummer, Christopher W; Soheili, Arash; Leighton, James L

2012-05-18

An efficient and (E)-selective synthesis of a 6-alkylidenebicyclo[3.2.1]octan-8-one has been developed. The key step is a tandem cross-metathesis/semipinacol rearrangement reaction, wherein the Hoveyda-Grubbs II catalyst, or more likely a derivative thereof, serves as the Lewis acid for the rearrangement. Despite the fact that both the starting alkene and the cross-metathesis product are viable rearrangement substrates, only the latter rearranges, suggesting that the Lewis acidic species is generated only after the cross-metathesis reaction is complete.

Utility of Exercise Testing and Adenosine Response for Risk Assessment in Children with Wolff-Parkinson-White Syndrome.

PubMed

Ergul, Yakup; Ozturk, Erkut; Ozyilmaz, Isa; Unsal, Serkan; Carus, Hayat; Tola, Hasan Tahsin; Tanidir, Ibrahim Cansaran; Guzeltas, Alper

2015-01-01

We aimed to determine the correlation between noninvasive testing (exercise stress testing [EST] and adenosine responsiveness of accessory pathway [AP] ) and invasive electrophysiology study (EPS) for assessment antegrade conduction of the AP in Wolff-Parkinson-White syndrome. This prospective, observational study enrolled 40 children (58% male children, median age of 13 years, and median weight of 47.5 kg) with Wolff-Parkinson-White syndrome. Conduction through the AP to a cycle length of ≤250 ms was considered rapid or high-risk; otherwise, patients were nonrapid or low-risk. The sudden disappearance of the delta-wave was seen in 10 cases (25%) during EST. Accessory pathway was found to be high-risk in 13 cases (13/40, 32.5%) while the accessory path was identified as low-risk in 27 cases; however, six patients (15%) had blocked AP conduction with adenosine during EPS. Low-risk classification by EST alone to identify patients with nonrapid conduction in baseline EPS had a specificity of 93% and a positive predictive value of 90% (accuracy 54%). Blocked AP conduction with adenosine as a marker of nonrapid baseline AP conduction had a specificity of 93% and a positive predictive value of 84%. Finally, AP was adenosine nonresponsive in the majority of patients (28/30, 93%) with persistent delta-waves, 40% of those who had a sudden disappearance of delta-waves had an adenosine-responsive AP (P value: .028). Abrupt loss of preexcitation during EST and blocked AP conduction with adenosine had high specificity and positive predictive value for nonrapid and low-risk antegrade conduction during baseline invasive EPS. Successful risk stratification of pediatric patients with Wolff-Parkinson-White is possible through the use of EST and the adenosine responsiveness of AP. © 2015 Wiley Periodicals, Inc.

Noninvasive risk stratification for sudden death in asymptomatic patients with Wolff-Parkinson-White syndrome.

PubMed

Novella, John; DeBiasi, Ralph M; Coplan, Neil L; Suri, Ranji; Keller, Seth

2014-01-01

Sudden cardiac death (SCD) as the first clinical manifestation of Wolff-Parkinson-White (WPW) syndrome is a well-documented, although rare occurrence. The incidence of SCD in patients with WPW ranges from 0% to 0.39% annually. Controversy exists regarding risk stratification for patients with preexcitation on surface electrocardiogram (ECG), particularly in those who are asymptomatic. This article focuses on the role of risk stratification using exercise and pharmacologic testing in patients with WPW pattern on ECG.

The dynamics of photoinduced defect creation in amorphous chalcogenides: The origin of the stretched exponential function

DOE Office of Scientific and Technical Information (OSTI.GOV)

Freitas, R. J.; Shimakawa, K.; Department of Electrical and Electronic Engineering, Gifu University, Gifu 501-1193

The article discusses the dynamics of photoinduced defect creations (PDC) in amorphous chalcogenides, which is described by the stretched exponential function (SEF), while the well known photodarkening (PD) and photoinduced volume expansion (PVE) are governed only by the exponential function. It is shown that the exponential distribution of the thermal activation barrier produces the SEF in PDC, suggesting that thermal energy, as well as photon energy, is incorporated in PDC mechanisms. The differences in dynamics among three major photoinduced effects (PD, PVE, and PDC) in amorphous chalcogenides are now well understood.

Electroconvulsive therapy-induced Wolff-Parkinson-White syndrome: a case report.

PubMed

Enomoto, Shingo; Yoshino, Aihide; Takase, Bonpei; Kuwahara, Tatsuro; Tatsuzawa, Yasutaka; Nomura, Soichiro

2013-01-01

Wolff-Parkinson-White (WPW) syndrome is characterized by premature ventricular excitation due to the presence of an abnormal accessory pathway. Electrocardiography (ECG) of patients with WPW syndrome portrays a short PR interval and a wide QRS interval with a delta wave. Herein, we report the case of a patient with schizophrenia who developed a wide QRS interval with a delta wave immediately following electroconvulsive therapy (ECT). Initially, the delta wave disappeared within 2 days after ECT. However, the duration of the delta wave increased exponentially to 4 months when ECT was repeated. Although the patient's cardiocirculatory dynamics remained normal, we continued to monitor her ECG until the delta wave disappeared because WPW syndrome can lead to serious arrhythmia. Copyright © 2013 Elsevier Inc. All rights reserved.

Photoinduced RNA interference.

PubMed

Matsushita-Ishiodori, Yuka; Ohtsuki, Takashi

2012-07-17

Because RNA interference (RNAi) can be applied to any gene, this technique has been widely used for studying gene functions. In addition, many researchers are attempting to use RNAi technology in RNAi-based therapies. However, several challenging and controversial issues have arisen during the widespread application of RNAi including target gene specificity, target cell specificity, and spatiotemporal control of gene silencing. To address these issues, several groups have utilized photochemistry to control the RNA release, both spatially and temporally. In this Account, we focus on recent studies using photocleavable protecting groups, photosensitizers, Hand gold nanoparticles for photoinduced RNAi. In 2005 the first report of photoinduced RNAi used a caged short interfering RNA (siRNA), an siRNA carrying a photocleavable protecting group. Caging groups block the bioactivities of target molecules, but allow for complete recovery of these functions via photoactivation. However, some RNAi activity can occur in these caged siRNAs, so it will be necessary to decrease this "leakage" and raise the RNAi activity restored after irradiation. This technique also uses UV light around 350 nm, which is cytotoxic, but in the near future we expect that it will be possible to use visible and near-infrared light We also examine the application of photochemical internalization (PCI) to RNAi technology, which involves a combination of photosensitizers and light. Instead of inducing RNAi using light, the strategy behind this method was to enhance RNAi using RNA carriers. Many wellknown RNA carriers deliver siRNAs into cells by endocytosis. The siRNAs are trapped in endocytic vesicles and have to be released into the cytoplasm in order to express their activity. To achieve the endosomal escape of siRNAs, PCI technology employed photosensitizers to generate light-dependent reactive oxygen species (ROS) that disrupted the endocytic vesicles. In most studies, RNAi-mediated knockdown of

The nature of photoinduced phase transition and metastable states in vanadium dioxide

PubMed Central

Tao, Zhensheng; Zhou, Faran; Han, Tzong-Ru T.; Torres, David; Wang, Tongyu; Sepulveda, Nelson; Chang, Kiseok; Young, Margaret; Lunt, Richard R.; Ruan, Chong-Yu

2016-01-01

Photoinduced threshold switching processes that lead to bistability and the formation of metastable phases in photoinduced phase transition of VO2 are elucidated through ultrafast electron diffraction and diffusive scattering techniques with varying excitation wavelengths. We uncover two distinct regimes of the dynamical phase change: a nearly instantaneous crossover into an intermediate state and its decay led by lattice instabilities over 10 ps timescales. The structure of this intermediate state is identified to be monoclinic, but more akin to M2 rather than M1 based on structure refinements. The extinction of all major monoclinic features within just a few picoseconds at the above-threshold-level (~20%) photoexcitations and the distinct dynamics in diffusive scattering that represents medium-range atomic fluctuations at two photon wavelengths strongly suggest a density-driven and nonthermal pathway for the initial process of the photoinduced phase transition. These results highlight the critical roles of electron correlations and lattice instabilities in driving and controlling phase transformations far from equilibrium. PMID:27982066

The nature of photoinduced phase transition and metastable states in vanadium dioxide

NASA Astrophysics Data System (ADS)

Tao, Zhensheng; Zhou, Faran; Han, Tzong-Ru T.; Torres, David; Wang, Tongyu; Sepulveda, Nelson; Chang, Kiseok; Young, Margaret; Lunt, Richard R.; Ruan, Chong-Yu

2016-12-01

Photoinduced threshold switching processes that lead to bistability and the formation of metastable phases in photoinduced phase transition of VO2 are elucidated through ultrafast electron diffraction and diffusive scattering techniques with varying excitation wavelengths. We uncover two distinct regimes of the dynamical phase change: a nearly instantaneous crossover into an intermediate state and its decay led by lattice instabilities over 10 ps timescales. The structure of this intermediate state is identified to be monoclinic, but more akin to M2 rather than M1 based on structure refinements. The extinction of all major monoclinic features within just a few picoseconds at the above-threshold-level (~20%) photoexcitations and the distinct dynamics in diffusive scattering that represents medium-range atomic fluctuations at two photon wavelengths strongly suggest a density-driven and nonthermal pathway for the initial process of the photoinduced phase transition. These results highlight the critical roles of electron correlations and lattice instabilities in driving and controlling phase transformations far from equilibrium.

Photoinduced Bulk Polarization and Its Effects on Photovoltaic Actions in Perovskite Solar Cells.

PubMed

Wu, Ting; Collins, Liam; Zhang, Jia; Lin, Pei-Ying; Ahmadi, Mahshid; Jesse, Stephen; Hu, Bin

2017-11-28

This article reports an experimental demonstration of photoinduced bulk polarization in hysteresis-free methylammonium (MA) lead-halide perovskite solar cells [ITO/PEDOT:PSS/perovskite/PCBM/PEI/Ag]. An anomalous capacitance-voltage (CV) signal is observed as a broad "shoulder" in the depletion region from -0.5 to +0.5 V under photoexcitation based on CV measurements where a dc bias is gradually scanned to continuously drift mobile ions in order to detect local polarization under a low alternating bias (50 mV, 5 kHz). Essentially, gradually scanning the dc bias and applying a low alternating bias can separately generate continuously drifting ions and a bulk CV signal from local polarization under photoexcitation. Particularly, when the device efficiency is improved from 12.41% to 18.19% upon chlorine incorporation, this anomalous CV signal can be enhanced by a factor of 3. This anomalous CV signal can be assigned as the signature of photoinduced bulk polarization by distinguishing from surface polarization associated with interfacial charge accumulation. Meanwhile, replacing easy-rotational MA + with difficult-rotational formamidinium (FA + ) cations largely minimizes such anomalous CV signal, suggesting that photoinduced bulk polarization relies on the orientational freedom of dipolar organic cations. Furthermore, a Kelvin probe force microscopy study shows that chlorine incorporation can suppress the density of charged defects and thus enhances photoinduced bulk polarization due to the reduced screening effect from charged defects. A bias-dependent photoluminescence study indicates that increasing bulk polarization can suppress carrier recombination by decreasing charge capture probability through the Coulombic screening effect. Clearly, our studies provide an insightful understanding of photoinduced bulk polarization and its effects on photovoltaic actions in perovskite solar cells.

Photo-Induced Assembly of a Luminescent Tetraruthenium Square.

PubMed

Laramée-Milette, Baptiste; Nastasi, Francesco; Puntoriero, Fausto; Campagna, Sebastiano; Hanan, Garry S

2017-11-21

Self-assembly is a powerful synthetic tool that has led to the development of one-, two- and three-dimensional architectures. From MOFs to molecular flasks, self-assembled materials have proven to be of great interest to the scientific community. Here we describe a strategy for the construction and de-construction of a supramolecular structure through unprecedented photo-induced assembly and dis-assembly. The combination of two approaches, a [n×1]-directional bonding strategy and a ligand photo-dissociation strategy, allows the photo-induced assembly of a polypyridyl Ru II precursor into a discrete molecular square. Diffusion-ordered NMR spectroscopy confirmed the synthesis of a higher volume species, while the identity of the species was established by high-resolution mass spectrometry and single-crystal X-ray diffraction studies. The self-assembled square is not obtained by classical thermal techniques in similar conditions, but is obtained only by light-irradiation. The tetraruthenium square has an excited-state lifetime (135 ns), 40 times that of its mononuclear precursor and its luminescence quantum yield (1.0 %) is three orders of magnitude higher. These remarkable luminescence properties are closely related to the relatively rigid square structure of the tetraruthenium assembly, as suggested by slow radiationless decay and transient absorption spectroscopy. The results described herein are a rare example of photo-induced assembly and dis-assembly processes, and can open the way to a new avenue in supramolecular chemistry, leading to the preparation of structurally organized supermolecules by photochemical techniques. © 2017 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.

Photo-induced Mass Transport through Polymer Networks

NASA Astrophysics Data System (ADS)

Meng, Yuan; Anthamatten, Mitchell

2014-03-01

Among adaptable materials, photo-responsive polymers are especially attractive as they allow for spatiotemporal stimuli and response. We have recently developed a macromolecular network capable of photo-induced mass transport of covalently bound species. The system comprises of crosslinked chains that form an elastic network and photosensitive fluorescent arms that become mobile upon irradiation. We form loosely crosslinked polymer networks by Michael-Addition between multifunctional thiols and small molecule containing acrylate end-groups. The arms are connected to the network by allyl sulfide, that undergoes addition-fragmentation chain transfer (AFCT) in the presence of free radicals, releasing diffusible fluorophore. The networks are loaded with photoinitiator to allow for spatial modulation of the AFCT reactions. FRAP experiments within bulk elastomers are conducted to establish correlations between the fluorophore's diffusion coefficient and experimental variables such as network architecture, temperature and UV intensity. Photo-induced mass transport between two contacted films is demonstrated, and release of fluorophore into a solvent is investigated. Spatial and temporal control of mass transport could benefit drug release, printing, and sensing applications.

Electrophysiologic profile and results of invasive risk stratification in asymptomatic children and adolescents with the Wolff-Parkinson-White electrocardiographic pattern.

PubMed

Kubuš, Peter; Vít, Pavel; Gebauer, Roman A; Materna, Ondřej; Janoušek, Jan

2014-04-01

Data on the results and clinical effect of an invasive risk stratification strategy in asymptomatic young patients with the Wolff-Parkinson-White electrocardiographic pattern are scarce. Eighty-five consecutive patients aged<18 years with a Wolff-Parkinson-White pattern and persistent preexcitation at maximum exercise undergoing invasive risk stratification were retrospectively studied. Adverse accessory pathway (AP) properties were defined according to currently consented criteria as any of the following: shortest preexcited RR interval during atrial fibrillation/rapid atrial pacing≤250 ms (or antegrade effective refractory period≤250 ms if shortest preexcited RR interval was not available) or inducible atrioventricular re-entrant tachycardia. Age at evaluation was median 14.9 years. Eighty-two patients had a structurally normal heart and 3 had hypertrophic cardiomyopathy. A single manifest AP was present in 80, 1 manifest and 1 concealed AP in 4, and 2 manifest APs in 1 patient. Adverse AP properties were present in 32 of 85 patients (37.6%) at baseline and in additional 16 of 44 (36.4%) after isoproterenol. Ablation was performed in 41 of these 48 patients. Ablation was deferred in the remaining 7 for pathway proximity to the atrioventricular node. In addition, 18 of the low-risk patients were ablated based on patient/parental decision. Adverse AP properties at baseline were exhibited by 37.6% of the evaluated patients with an asymptomatic Wolff-Parkinson-White preexcitation persisting at peak exercise. Isoproterenol challenge yielded additional 36.4% of those tested at higher risk. Ablation was performed in a total of 69.4% of patients subjected to invasive risk stratification.

Analysis of genome rearrangement by block-interchanges.

PubMed

Lu, Chin Lung; Lin, Ying Chih; Huang, Yen Lin; Tang, Chuan Yi

2007-01-01

Block-interchanges are a new kind of genome rearrangements that affect the gene order in a chromosome by swapping two nonintersecting blocks of genes of any length. More recently, the study of such rearrangements is becoming increasingly important because of its applications in molecular evolution. Usually, this kind of study requires to solve a combinatorial problem, called the block-interchange distance problem, which is to find a minimum number of block-interchanges between two given gene orders of linear/circular chromosomes to transform one gene order into another. In this chapter, we shall introduce the basics of block-interchange rearrangements and permutation groups in algebra that are useful in analyses of genome rearrangements. In addition, we shall present a simple algorithm on the basis of permutation groups to efficiently solve the block-interchange distance problem, as well as ROBIN, a web server for the online analyses of block-interchange rearrangements.

Nonadiabatic dynamics of photo-induced proton-coupled electron transfer reactions via ring-polymer surface hopping

NASA Astrophysics Data System (ADS)

Shakib, Farnaz; Huo, Pengfei

Photo-induced proton-coupled electron transfer reactions (PCET) are at the heart of energy conversion reactions in photocatalysis. Here, we apply the recently developed ring-polymer surface-hopping (RPSH) approach to simulate the nonadiabatic dynamics of photo-induced PCET. The RPSH method incorporates ring-polymer (RP) quantization of the proton into the fewest-switches surface-hopping (FSSH) approach. Using two diabatic electronic states, corresponding to the electron donor and acceptor states, we model photo-induced PCET with the proton described by a classical isomorphism RP. From the RPSH method, we obtain numerical results that are comparable to those obtained when the proton is treated quantum mechanically. This accuracy stems from incorporating exact quantum statistics, such as proton tunnelling, into approximate quantum dynamics. Additionally, RPSH offers the numerical accuracy along with the computational efficiency. Namely, compared to the FSSH approach in vibronic representation, there is no need to calculate a massive number of vibronic states explicitly. This approach opens up the possibility to accurately and efficiently simulate photo-induced PCET with multiple transferring protons or electrons.

Acute photo-induced toxicity and toxicokinetics of single compounds and mixtures of polycyclic aromatic hydrocarbons in zebrafish.

PubMed

Willis, Alison M; Oris, James T

2014-09-01

The present study examined photo-induced toxicity and toxicokinetics for acute exposure to selected polycyclic aromatic hydrocarbons (PAHs) in zebrafish. Photo-enhanced toxicity from co-exposure to ultraviolet (UV) radiation and PAHs enhanced the toxicity and exhibited toxic effects at PAH concentrations orders of magnitude below effects observed in the absence of UV. Because environmental exposure to PAHs is usually in the form of complex mixtures, the present study examined the photo-induced toxicity of both single compounds and mixtures of PAHs. In a sensitive larval life stage of zebrafish, acute photo-induced median lethal concentrations (LC50s) were derived for 4 PAHs (anthracene, pyrene, carbazole, and phenanthrene) to examine the hypothesis that phototoxic (anthracene and pyrene) and nonphototoxic (carbazole and phenanthrene) pathways of mixtures could be predicted from single exposures. Anthracene and pyrene were phototoxic as predicted; however, carbazole exhibited moderate photo-induced toxicity and phenanthrene exhibited weak photo-induced toxicity. The toxicity of each chemical alone was used to compare the toxicity of mixtures in binary, tertiary, and quaternary combinations of these PAHs, and a predictive model for environmental mixtures was generated. The results indicated that the acute toxicity of PAH mixtures was additive in phototoxic scenarios, regardless of the magnitude of photo-enhancement. Based on PAH concentrations found in water and circumstances of high UV dose to aquatic systems, there exists potential risk of photo-induced toxicity to aquatic organisms. © 2014 SETAC.

Photoinduced metal-to-insulator transition in a manganite thin film.

PubMed

Takubo, N; Onishi, I; Takubo, K; Mizokawa, T; Miyano, K

2008-10-24

A persistent photoinduced metal-to-insulator transition has been confirmed in a manganite thin film, Pr_(0.55)(Ca_(0.75)Sr_(0.25))_(0.45)MnO3, near a multicritical point by monitoring with transport measurements and x-ray photoemission spectroscopy. Together with the previously reported reverse effect, the photoinduced insulator-to-metal transition, it is found that the relative stability of the metallic and insulating phases interchanges around 80 K in the middle of a very wide hysteresis loop, which is a manifestation of the large potential barrier due to the long-range elastic energy. It is shown that photons are much more effective in overcoming the barrier via the electronically excited intermediate states than via the heat mode.

The nature of photoinduced phase transition and metastable states in vanadium dioxide

DOE PAGES

Tao, Zhensheng; Zhou, Faran; Han, Tzong-Ru T.; ...

2016-12-16

Photoinduced threshold switching processes that lead to bistability and the formation of metastable phases in photoinduced phase transition of VO 2 are elucidated through ultrafast electron diffraction and diffusive scattering techniques with varying excitation wavelengths. We uncover two distinct regimes of the dynamical phase change: a nearly instantaneous crossover into an intermediate state and its decay led by lattice instabilities over 10 ps timescales. The structure of this intermediate state is identified to be monoclinic, but more akin to M 2 rather than M1 based on structure refinements. The extinction of all major monoclinic features within just a few picosecondsmore » at the above-threshold-level (~20%) photoexcitations and the distinct dynamics in diffusive scattering that represents medium-range atomic fluctuations at two photon wavelengths strongly suggest a density-driven and nonthermal pathway for the initial process of the photoinduced phase transition. These results highlight the critical roles of electron correlations and lattice instabilities in driving and controlling phase transformations far from equilibrium.« less

Phase diagram of the ultrafast photoinduced insulator-metal transition in vanadium dioxide

NASA Astrophysics Data System (ADS)

Cocker, T. L.; Titova, L. V.; Fourmaux, S.; Holloway, G.; Bandulet, H.-C.; Brassard, D.; Kieffer, J.-C.; El Khakani, M. A.; Hegmann, F. A.

2012-04-01

We use time-resolved terahertz spectroscopy to probe the ultrafast dynamics of the insulator-metal phase transition induced by femtosecond laser pulses in a nanogranular vanadium dioxide (VO2) film. Based on the observed thresholds for characteristic transient terahertz dynamics, a phase diagram of critical pump fluence versus temperature for the insulator-metal phase transition in VO2 is established for the first time over a broad range of temperatures down to 17 K. We find that both Mott and Peierls mechanisms are present in the insulating state and that the photoinduced transition is nonthermal. We propose a critical-threshold model for the ultrafast photoinduced transition based on a critical density of electrons and a critical density of coherently excited phonons necessary for the structural transition to the metallic state. As a result, evidence is found at low temperatures for an intermediate metallic state wherein the Mott state is melted but the Peierls distortion remains intact, consistent with recent theoretical predictions. Finally, the observed terahertz conductivity dynamics above the photoinduced transition threshold reveal nucleation and growth of metallic nanodomains over picosecond time scales.

Electrophysiological evaluation of Wolff-Parkinson-White Syndrome

PubMed Central

Brembilla-Perrot, Beatrice

2002-01-01

Sudden death might complicate the follow-up of symptomatic patients with the Wolff-Parkinson-White syndrome (WPW) and might be the first event in patients with asymptomatic WPW. The risk of sudden death is increased in some clinical situations. Generally, the noninvasive studies are unable to predict the risk of sudden death correctly . The electrophysiological study is the best means to detect the risk of sudden death and to evaluate the nature of symptoms. Methods used to define the prognosis of WPW are well-defined. At first the maximal rate of conduction through the accessory pathway is evaluated; programmed atrial stimulation using 1 and 2 extrastimuli delivered at different cycle lengths is then used to determine the accessory pathway refractory period and to induce a supraventricular tachycardia. These methods should be performed in the control state and repeated in adrenergic situations either during exercise test or more simply during a perfusion of small doses of isoproterenol. The induction of an atrial fibrillation with rapid conduction through the accessory pathway (> 240/min in control state, > 300/min after isoproterenol) is the sign of a form of WPW at risk of sudden death. PMID:16951730

Phosphonate–Phosphinate Rearrangement

PubMed Central

2014-01-01

LiTMP metalated dimethyl N-Boc-phosphoramidates derived from 1-phenylethylamine and 1,2,3,4-tetrahydronaphthalen-1-ylamine highly selectively at the CH3O group to generate short-lived oxymethyllithiums. These isomerized to diastereomeric hydroxymethylphosphonamidates (phosphate–phosphonate rearrangement). However, s-BuLi converted the dimethyl N-Boc-phosphoramidate derived from 1-phenylethylamine to the N-Boc α-aminophosphonate preferentially. Only s-BuLi deprotonated dimethyl hydroxymethylphosphonamidates at the benzylic position and dimethyl N-Boc α-aminophosphonates at the CH3O group to induce phosphonate–phosphinate rearrangements. In the former case, the migration of the phosphorus substituent from the nitrogen to the carbon atom followed a retentive course with some racemization because of the involvement of a benzyllithium as an intermediate. PMID:25525945

Recurrent DNA inversion rearrangements in the human genome

PubMed Central

Flores, Margarita; Morales, Lucía; Gonzaga-Jauregui, Claudia; Domínguez-Vidaña, Rocío; Zepeda, Cinthya; Yañez, Omar; Gutiérrez, María; Lemus, Tzitziki; Valle, David; Avila, Ma. Carmen; Blanco, Daniel; Medina-Ruiz, Sofía; Meza, Karla; Ayala, Erandi; García, Delfino; Bustos, Patricia; González, Víctor; Girard, Lourdes; Tusie-Luna, Teresa; Dávila, Guillermo; Palacios, Rafael

2007-01-01

Several lines of evidence suggest that reiterated sequences in the human genome are targets for nonallelic homologous recombination (NAHR), which facilitates genomic rearrangements. We have used a PCR-based approach to identify breakpoint regions of rearranged structures in the human genome. In particular, we have identified intrachromosomal identical repeats that are located in reverse orientation, which may lead to chromosomal inversions. A bioinformatic workflow pathway to select appropriate regions for analysis was developed. Three such regions overlapping with known human genes, located on chromosomes 3, 15, and 19, were analyzed. The relative proportion of wild-type to rearranged structures was determined in DNA samples from blood obtained from different, unrelated individuals. The results obtained indicate that recurrent genomic rearrangements occur at relatively high frequency in somatic cells. Interestingly, the rearrangements studied were significantly more abundant in adults than in newborn individuals, suggesting that such DNA rearrangements might start to appear during embryogenesis or fetal life and continue to accumulate after birth. The relevance of our results in regard to human genomic variation is discussed. PMID:17389356

Molecular Pathogenesis of Familial Wolff-Parkinson-White Syndrome.

PubMed

Licht, Miyamotoa

2018-01-01

Familial Wolff-Parkinson-White (WPW) syndrome is an autosomal dominant inherited disease and consists of a small percentage of WPW syndrome which exhibits ventricular pre-excitation by development of accessory atrioventricular pathway. A series of mutations in PRKAG2 gene encoding gamma2 subunit of 5'AMP-activated protein kinase (AMPK) has been identified as the cause of familial WPW syndrome. AMPK is one of the most important metabolic regulators of carbohydrates and lipids in many types of tissues including cardiac and skeletal muscles. Patients and animals with the mutation in PRKAG2 gene exhibit aberrant atrioventricular conduction associated with cardiac glycogen overload. Recent studies have revealed "novel" significance of canonical pathways leading to glycogen synthesis and provided us profound insights into molecular mechanism of the regulation of glycogen metabolism by AMPK. This review focuses on the molecular basis of the pathogenesis of cardiac abnormality due to PRKAG2 mutation and will provide current overviews of the mechanism of glycogen regulation by AMPK. J. Med. Invest. 65:1-8, February, 2018.

Plasmon Enhancement of Photoinduced Resistivity Changes in Bi1-xCaxMnO3 Thin Films

NASA Astrophysics Data System (ADS)

Smolyaninova, Vera; Talanova, E.; Kolagani, Rajeswari; Yong, G.; Kennedy, R.; Steger, M.; Wall, K.

2007-03-01

Doped rare-earth manganese oxides (manganites) exhibit a wide variety of physical phenomena due to complex interplay of electronic, magnetic, orbital, and structural degrees of freedom and their sensitivity to external fields. A photoinduced insulator to conductor transition in charge-ordered manganites is especially interesting from the point of view of creating photonic devices. Thin films of Bi0.4Ca0.6MnO3 exhibit large photoinduced resistivity changes associated with melting of the charge ordering by visible light [1]. We have found a considerable increase of the photoinduced resistivity changes in the Bi0.4Ca0.6MnO3 thin film after depositing metal nanoparticles on the surface. This increase can be explained by enhancement of local electromagnetic field in the vicinity of the gold nanoparticle due to the plasmon resonance. The changes in lifetime of the photoinduced state will be reported, and the possible origin of these effects will be discussed. [1] V. N. Smolyaninova at al., Appl. Phys. Lett. 86, 071922 (2005).

Biotransformation and Rearrangement of Laromustine.

PubMed

Nassar, Alaa-Eldin F; Wisnewski, Adam V; King, Ivan

2016-08-01

This review highlights the recent research into the biotransformations and rearrangement of the sulfonylhydrazine-alkylating agent laromustine. Incubation of [(14)C]laromustine with rat, dog, monkey, and human liver microsomes produced eight radioactive components (C-1 to C-8). There was little difference in the metabolite profile among the species examined, partly because NADPH was not required for the formation of most components, which instead involved decomposition and/or hydrolysis. The exception was C-7, a hydroxylated metabolite, largely formed by CYP2B6 and CYP3A4/5. Liquid chromatography-multistage mass spectrometry (LC-MS(n)) studies determined that collision-induced dissociation, and not biotransformation or enzyme catalysis, produced the unique mass spectral rearrangement. Accurate mass measurements performed with a Fourier-transform ion cyclotron resonance mass spectrometer (FTICR-MS) significantly aided determination of the elemental compositions of the fragments and in the case of laromustine revealed the possibility of rearrangement. Further, collision-induced dissociation produced the loss of nitrogen (N2) and methylsulfonyl and methyl isocyanate moieties. The rearrangement, metabolite/decomposition products, and conjugation reactions were analyzed utilizing hydrogen-deuterium exchange, exact mass, (13)C-labeled laromustine, nuclear magnetic resonance spectroscopy (NMR), and LC-MS(n) experiments to assist with the assignments of these fragments and possible mechanistic rearrangement. Such techniques produced valuable insights into these functions: 1) Cytochrome P450 is involved in C-7 formation but plays little or no role in the conversion of [(14)C]laromustine to C-1 through C-6 and C-8; 2) the relative abundance of individual degradation/metabolite products was not species-dependent; and 3) laromustine produces several reactive intermediates that may produce the toxicities seen in the clinical trials. Copyright © 2016 by The American Society for

Photoinduced orientation in natural rubber

NASA Astrophysics Data System (ADS)

de Souza, Nara C.; Cavalheri, Adriana S.; Brito, Jackeline B.; Job, Aldo E.; Oliveira, Osvaldo N.; Giacometti, José A.; Silva, Josmary R.

2012-04-01

Azobenzene molecules and their derivatives have been widely investigated for their potential applications in optical and electrooptical devices. We have prepared a new guest-host system from natural rubber (NR) impregnated with azobenzene derivative Sudan Red B (SRB). The effects of stretching and immersion time on photoinduced orientation were investigated by birefringence signal measurements. We have found that the molecular orientation increase when the samples are stretched and decrease with the increase of immersion time. The first behavior was explained by using the random coil model and the latter was attributed to increase of the aggregation of SRB into NR matrix.

Photoinduced Disaggregation of TiO2 Nanoparticles Enables Transdermal Penetration

PubMed Central

Bennett, Samuel W.; Zhou, Dongxu; Mielke, Randall; Keller, Arturo A.

2012-01-01

Under many aqueous conditions, metal oxide nanoparticles attract other nanoparticles and grow into fractal aggregates as the result of a balance between electrostatic and Van Der Waals interactions. Although particle coagulation has been studied for over a century, the effect of light on the state of aggregation is not well understood. Since nanoparticle mobility and toxicity have been shown to be a function of aggregate size, and generally increase as size decreases, photo-induced disaggregation may have significant effects. We show that ambient light and other light sources can partially disaggregate nanoparticles from the aggregates and increase the dermal transport of nanoparticles, such that small nanoparticle clusters can readily diffuse into and through the dermal profile, likely via the interstitial spaces. The discovery of photoinduced disaggregation presents a new phenomenon that has not been previously reported or considered in coagulation theory or transdermal toxicological paradigms. Our results show that after just a few minutes of light, the hydrodynamic diameter of TiO2 aggregates is reduced from ∼280 nm to ∼230 nm. We exposed pigskin to the nanoparticle suspension and found 200 mg kg−1 of TiO2 for skin that was exposed to nanoparticles in the presence of natural sunlight and only 75 mg kg−1 for skin exposed to dark conditions, indicating the influence of light on NP penetration. These results suggest that photoinduced disaggregation may have important health implications. PMID:23155401

Chromosome Rearrangements Recovered following Transformation of Neurospora Crassa

PubMed Central

Perkins, D. D.; Kinsey, J. A.; Asch, D. K.; Frederick, G. D.

1993-01-01

New chromosome rearrangements were found in 10% or more of mitotically stable transformants. This was shown for transformations involving a variety of different markers, vectors and recipient strains. Breakpoints were randomly distributed among the seven linkage groups. Controls using untransformed protoplasts of the same strains contained almost no rearrangements. A study of molecularly characterized Am(+) transformants showed that rearrangements are frequent when multiple ectopic integration events have occurred. In contrast, rearrangements are absent or infrequent when only the resident locus is restored to am(+) by a homologous event. Sequences of the transforming vector were genetically linked to breakpoints in 6 of 10 translocations that were examined using Southern hybridization or colony blots. PMID:8349106

Sorting permutations by prefix and suffix rearrangements.

PubMed

Lintzmayer, Carla Negri; Fertin, Guillaume; Dias, Zanoni

2017-02-01

Some interesting combinatorial problems have been motivated by genome rearrangements, which are mutations that affect large portions of a genome. When we represent genomes as permutations, the goal is to transform a given permutation into the identity permutation with the minimum number of rearrangements. When they affect segments from the beginning (respectively end) of the permutation, they are called prefix (respectively suffix) rearrangements. This paper presents results for rearrangement problems that involve prefix and suffix versions of reversals and transpositions considering unsigned and signed permutations. We give 2-approximation and ([Formula: see text])-approximation algorithms for these problems, where [Formula: see text] is a constant divided by the number of breakpoints (pairs of consecutive elements that should not be consecutive in the identity permutation) in the input permutation. We also give bounds for the diameters concerning these problems and provide ways of improving the practical results of our algorithms.

Wolff-Parkinson-White syndrome concomitant with idiopathic ventricular fibrillation associated with inferior early repolarization.

PubMed

Takahashi, Naohiko; Shinohara, Tetsuji; Hara, Masahide; Saikawa, Tetsunori

2012-01-01

We encountered a 39-year-old man with documented ventricular fibrillation (VF). His ECGs showed intermittent Wolff-Parkinson-White (WPW) syndrome pattern. During electrophysiological study, no ventricular preexcitation was observed. An accessory pathway located at the posterior mitral annulus was identified, and successfully eliminated by radiofrequency catheter ablation. VF was not induced. His ECGs in the absence of delta waves demonstrated early repolarization in the inferior leads. This case raises the possibility that patients with manifest WPW syndrome may have an arrhythmogenic substrate associated with early repolarization, and the characteristic J waves can be masked by the presence of ventricular preexcitation.

Electron-nuclear corellations for photoinduced dynamics in molecular dimers

NASA Astrophysics Data System (ADS)

Kilin, Dmitri S.; Pereversev, Yuryi V.; Prezhdo, Oleg V.

2003-03-01

Ultrafast photoinduced dynamics of electronic excitation in molecular dimers is drastically affected by dynamic reorganization of of inter- and intra- molecular nuclear configuration modelled by quantized nuclear degree of freedom [1]. The dynamics of the electronic population and nuclear coherence is analyzed with help of both numerical solution of the chain of coupled differential equations for mean coordinate, population inversion, electronic-vibrational correlation etc.[2] and by propagating the Gaussian wavepackets in relevant adiabatic potentials. Intriguing results were obtained in the approximation of small energy difference and small change of nuclear equilibrium configuration for excited electronic states. In the limiting case of resonance between electronic states energy difference and frequency of the nuclear mode these results have been justified by comparison to exactly solvable Jaynes-Cummings model. It has been found that the photoinduced processes in dimer are arranged according to their time scales:(i) fast scale of nuclear motion,(ii) intermediate scale of dynamical redistribution of electronic population between excited states as well as growth and dynamics of electronic -nuclear correlation,(iii) slow scale of electronic population approaching to the quasiequilibrium distribution, decay of electronic-nuclear correlation, and diminishing the amplitude of mean coordinate oscillations, accompanied by essential growth of the nuclear coordinate dispersion associated with the overall nuclear wavepacket width. Demonstrated quantum-relaxational features of photoinduced vibronic dinamical processess in molecular dimers are obtained by simple method, applicable to large biological systems with many degrees of freedom. [1] J. A. Cina, D. S. Kilin, T. S. Humble, J. Chem. Phys. (2003) in press. [2] O. V. Prezhdo, J. Chem. Phys. 117, 2995 (2002).

Probing Photoinduced Structural Phase Transitions by Fast or Ultra-Fast Time-Resolved X-Ray Diffraction

NASA Astrophysics Data System (ADS)

Cailleau, Hervé Collet, Eric; Buron-Le Cointe, Marylise; Lemée-Cailleau, Marie-Hélène Koshihara, Shin-Ya

A new frontier in the field of structural science is the emergence of the fast and ultra-fast X-ray science. Recent developments in time-resolved X-ray diffraction promise direct access to the dynamics of electronic, atomic and molecular motions in condensed matter triggered by a pulsed laser irradiation, i.e. to record "molecular movies" during the transformation of matter initiated by light pulse. These laser pump and X-ray probe techniques now provide an outstanding opportunity for the direct observation of a photoinduced structural phase transition as it takes place. The use of X-ray short-pulse of about 100ps around third-generation synchrotron sources allows structural investigations of fast photoinduced processes. Other new X-ray sources, such as laser-produced plasma ones, generate ultra-short pulses down to 100 fs. This opens the way to femtosecond X-ray crystallography, but with rather low X-ray intensities and more limited experimental possibilities at present. However this new ultra-fast science rapidly progresses around these sources and new large-scale projects exist. It is the aim of this contribution to overview the state of art and the perspectives of fast and ultra-fast X-ray scattering techniques to study photoinduced phase transitions (here, the word ultra-fast is used for sub-picosecond time resolution). In particular we would like to largely present the contribution of crystallographic methods in comparison with optical methods, such as pump-probe reflectivity measurements, the reader being not necessary familiar with X-ray scattering. Thus we want to present which type of physical information can be obtained from the positions of the Bragg peaks, their intensity and their shape, as well as from the diffuse scattering beyond Bragg peaks. An important physical feature is to take into consideration the difference in nature between a photoinduced phase transition and conventional homogeneous photoinduced chemical or biochemical processes where

Extracorporeal life support for cardiac arrest in a 13-year-old girl caused by Wolff-Parkinson-White syndrome.

PubMed

Song, Kyoung Hwan; Lee, Byung Kook; Jeung, Kyung Woon; Lee, Dong Hun

2015-10-01

Generally, Wolff-Parkinson-White (WPW) syndrome presents good prognosis. However, several case reports demonstrated malignant arrhythmia or sudden cardiac death as WPW syndrome's first presentation. Cardiopulmonary resuscitation using extracorporeal life support is a therapeutic option in refractory cardiac arrest. We present a WPW syndrome patient who had sudden cardiac arrest as the first presentation of the disease and treated it using extracorporeal life support with good neurologic outcome.

Towards a 3D modelling of the microwave photo-induced load in CPW technology

NASA Astrophysics Data System (ADS)

Gary, Rene; Arnould, Jean-Daniel; Vilcot, Anne

2005-09-01

The optical control study works on both the optical and the microwave behaviours of the plasma photo-induced in the semiconductor enlightened by a laser beam. The presented study is based on the necessity to be able to foresee the microwave response of CPW microwave devices versus different optical powers and different kinds of optical fibers, single-mode or multimode. The optical part has been achieved analytically by solving the diffusion equation of photo-induced carriers using the Hankel transform in 3-Dimensions. The added value of this technique is its precision and fastness. For the electromagnetic part we have chosen to use CST Microwave Studio software, which solves numerically Maxwell's equations with a Finite Integration Technique (FIT). For this aim we have had to model the photo-induced load using the locally changed conductivity directly depending of the excess carriers distribution. In the final paper, the first part will deal with the analytical computation of the photo-induced excess carrier in silicon substrate using the Hankel transform under permanent enlightening. Then the explanation of the model will be based on the need of a 3-Dimension model that may be described in an electromagnetic software. Finally simulation results of simple CPW devices as stub will be compared to measurements. In conclusion, we will show that the model is suitable for designing more complex devices and that it can be simplified in case of low precision needs.

Polarization dependent photo-induced bias stress effect in organic transistors.

NASA Astrophysics Data System (ADS)

Podzorov, Vitaly; Choi, Hyun Ho; Najafov, Hikmet; Saranin, Danila; Kharlamov, Nikolai A.; Kuznetzov, Denis V.; Didenko, Sergei I.; Cho, Kilwon; Briseno, Alejandro L.; Rutgers-Misis Collaboration; Ru-P Collaboration; Ru-Um Collaboration; Um-P Collaboration

Photo-induced charge transfer between a semiconductor and a gate insulator that occurs in organic transistors operating under illumination leads to a shift of the onset gate voltage in these devices. Here we report an observation of a polarization dependent photo-induced bias-stress effect in two prototypical single-crystal organic field-effect transistors, based on rubrene and TPBIQ. We find that the rate of the effect is a periodic function of polarization angle of a linearly polarized photoexcitation, with a periodicity of π. The observed phenomenon provides an effective tool for addressing the relationship between molecular packing and parameter drift in organic transistors under illumination. The work was carried out with financial support from the Ministry of Education and Science of the Russian Federation in the framework of Increase Competitiveness Program of NUST «MISiS» (No. K3-2016-004), by gov. decree 16/03/2013, N 211.

Sugammadex Use in a Patient with Wolff-Parkinson-White (WPW) Syndrome.

PubMed

Şahin, Sevtap Hekimoğlu; Öztekin, İlhan; Kuzucuoğlu, Aytuna; Aslanoğlu, Ayça

2015-07-01

Wolff-Parkinson-White (WPW) syndrome is a disease associated with episodes of supraventricular tachycardia and ventricular pre-excitation or atrial fibrillation. WPW is characterized by an aberrant electrical conduction pathway between atria and ventricles. The major anesthetic problem connected with WPW syndrome is the risk of tachyarrhythmias due to accessory pathway. Therefore, it has been proposed that the aim of anesthetic management should be the avoidance of tachyarrhythmia and sympathetic stimulation. Sugammadex was administered as a neuromuscular reversal agent in this case. To our knowledge, this is the first case report of sugammadex use in a patient with WPW. This report presents a case of general anesthesia management in a patient with WPW syndrome. We think that it is appropriate to use sugammadex to reverse rocuronium for the prevention of sudden hemodynamic changes in patients with WPW who underwent general anesthesia.

Catalytic and Thermal 1,2-Rearrangement of (α-Mercaptobenzyl)trimethylsilane

NASA Astrophysics Data System (ADS)

Zhang, Jie; Cui, Mengzhong; Feng, Shengyu; Sun, Xiaomin; Feng, Dacheng

2009-09-01

The mechanisms of catalytic and thermal 1,2-rearrangement of (α-mercaptobenzyl)trimethylsilane were studied by using density functional theory (DFT) at the MP2/6-31+G(d,p)//B3LYP/6-31G(d) levels. The results show that (α-mercaptobenzyl)trimethylsilane rearranges to (benzylthio)trimethylsilane through a trimethylsilyl group migration from C to S atom via a transition state of pentacoordinate Si atom with or without radical initiators. The low reaction activation energy (15.1 kcal/mol) is responsible for the fast rearrangement in the presence of radical initiators. Both radical and nonradical thermal rearrangement mechanisms were suggested, and the radical mechanism dominates through its self-catalyzing. These results are consistent with the experiment results. The activation energy (ΔHact = 15.1 kcal/mol) for the rate-determining step within the self-catalytic cycle is low enough to make (trimethylsilylbenzyl)thiyl radical be a reasonable catalyst for the thermal rearrangement. The catalytic and thermal 1,2-rearrangement mechanisms of (α-mercaptobenzyl)trimethylsilane, especially the self-catalytic radical mechanism, were revealed for the first time. The comparison of the rearrangement mechanisms between (α-mercaptobenzyl)trimethylsilane and silylmethanethiol discloses the factors in determining the reaction mechanism of such kinds of mercaptoalkyl-functionalized organosilanes. The phenyl group is found to be favorable for the radical rearrangement, thus making (α-mercaptobenzyl)trimethylsilane instable.

Band Structure Simulations of the Photoinduced Changes in the MgB₂:Cr Films.

PubMed

Kityk, Iwan V; Fedorchuk, Anatolii O; Ozga, Katarzyna; AlZayed, Nasser S

2015-04-02

An approach for description of the photoinduced nonlinear optical effects in the superconducting MgB₂:Cr₂O₃ nanocrystalline film is proposed. It includes the molecular dynamics step-by-step optimization of the two separate crystalline phases. The principal role for the photoinduced nonlinear optical properties plays nanointerface between the two phases. The first modified layers possess a form of slightly modified perfect crystalline structure. The next layer is added to the perfect crystalline structure and the iteration procedure is repeated for the next layer. The total energy here is considered as a varied parameter. To avoid potential jumps on the borders we have carried out additional derivative procedure.

Origin of Reversible Photoinduced Phase Separation in Hybrid Perovskites.

PubMed

Bischak, Connor G; Hetherington, Craig L; Wu, Hao; Aloni, Shaul; Ogletree, D Frank; Limmer, David T; Ginsberg, Naomi S

2017-02-08

The distinct physical properties of hybrid organic-inorganic materials can lead to unexpected nonequilibrium phenomena that are difficult to characterize due to the broad range of length and time scales involved. For instance, mixed halide hybrid perovskites are promising materials for optoelectronics, yet bulk measurements suggest the halides reversibly phase separate upon photoexcitation. By combining nanoscale imaging and multiscale modeling, we find that the nature of halide demixing in these materials is distinct from macroscopic phase separation. We propose that the localized strain induced by a single photoexcited charge interacting with the soft, ionic lattice is sufficient to promote halide phase separation and nucleate a light-stabilized, low-bandgap, ∼8 nm iodide-rich cluster. The limited extent of this polaron is essential to promote demixing because by contrast bulk strain would simply be relaxed. Photoinduced phase separation is therefore a consequence of the unique electromechanical properties of this hybrid class of materials. Exploiting photoinduced phase separation and other nonequilibrium phenomena in hybrid materials more generally could expand applications in sensing, switching, memory, and energy storage.

Photo-induced halide redistribution in organic–inorganic perovskite films

DOE PAGES

deQuilettes, Dane W.; Zhang, Wei; Burlakov, Victor M.; ...

2016-05-24

Organic-inorganic perovskites such as CH 3NH 3PbI 3 are promising materials for a variety of optoelectronic applications, with certified power conversion efficiencies in solar cells already exceeding 21%. Nevertheless, state-of-the-art films still contain performance-limiting non-radiative recombination sites and exhibit a range of complex dynamic phenomena under illumination that remain poorly understood. Here we use a unique combination of confocal photoluminescence (PL) microscopy and chemical imaging to correlate the local changes in photophysics with composition in CH 3NH 3PbI 3 films under illumination. We demonstrate that the photo-induced 'brightening' of the perovskite PL can be attributed to an order-of-magnitude reduction inmore » trap state density. By imaging the same regions with time-of-flight secondary-ion-mass spectrometry, we correlate this photobrightening with a net migration of iodine. In conclusion, our work provides visual evidence for photo-induced halide migration in triiodide perovskites and reveals the complex interplay between charge carrier populations, electronic traps and mobile halides that collectively impact optoelectronic performance.« less

Thyroid storm in a patient with Wolff-Parkinson-White syndrome.

PubMed

Naqvi, Syed Yaseen; Luebbert, Jeffrey J; Rosen, Stephen G

2015-12-15

A 44-year-old woman with no medical history presented to the emergency department with a 2 h history of sudden onset chest pressure, palpitations, diaphoresis and shortness of breath. She reported a 90-pound unintentional weight loss, increased appetite, irritability, night sweats and palpitations for 2 months. Physical examination revealed a heart rate (HR) of 269 bpm and a blood pressure of 116/94 mm Hg. Her ECG revealed a wide-complex tachycardia with right bundle branch morphology and an HR of 265 bpm. Intravenous adenosine was administered with resolution of the arrhythmia and symptoms. Her subsequent ECG revealed sinus tachycardia with δ waves, which was consistent with Wolff-Parkinson-White (WPW) syndrome. Laboratory findings confirmed thyroid storm and treatment began with intravenous hydrocortisone, methimazole, metoprolol, amiodarone and iodine drops. Graves' disease was confirmed based on the presence of serum thyroid-stimulating hormone receptor antibody. The patient underwent successful WPW accessory tract ablation 6 weeks after initial presentation. 2015 BMJ Publishing Group Ltd.

Inspiring Examples in Rearrangements of Infinite Products

ERIC Educational Resources Information Center

Ramasinghe, W.

2007-01-01

It is well known that simple examples are really encouraging in the understanding of rearrangements of infinite series. In this paper a similar role is played by simple examples in the case of infinite products. Iterated products of double products seem to have a similar spirit of rearrangements of products, although they are not the same.…

Photoinduced Bimolecular Electron Transfer in Ionic Liquids: Cationic Electron Donors

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wu, Boning; Liang, Min; Zmich, Nicole

Recently, we have reported a systematic study of photoinduced electron-transfer reactions in ionic liquid solvents using neutral and anionic electron donors and a series of cyano-substituted anthracene acceptors [Wu, B.; Maroncelli, M.; Castner, E. W., Jr.Photoinduced Bimolecular Electron Transfer in Ionic Liquids. J. Am. Chem. Soc.139, 2017, 14568]. In this paper, we report complementary results for a cationic class of 1-alkyl-4-dimethylaminopyridinium electron donors. Reductive quenching of cyano-substituted anthracene fluorophores by these cationic quenchers is studied in solutions of acetonitrile and the ionic liquid 1-ethyl-3-methylimidazolium bis(trifluoromethylsulfonyl)imide. Varying the length of the alkyl chain permits tuning of the quencher diffusivities in solution.more » The observed quenching kinetics are interpreted using a diffusion-reaction analysis. Finally, together with results from the prior study, these results show that the intrinsic electron-transfer rate constant does not depend on the quencher charge in this family of reactions.« less

Photoinduced Bimolecular Electron Transfer in Ionic Liquids: Cationic Electron Donors

DOE PAGES

Wu, Boning; Liang, Min; Zmich, Nicole; ...

2018-01-29

Recently, we have reported a systematic study of photoinduced electron-transfer reactions in ionic liquid solvents using neutral and anionic electron donors and a series of cyano-substituted anthracene acceptors [Wu, B.; Maroncelli, M.; Castner, E. W., Jr.Photoinduced Bimolecular Electron Transfer in Ionic Liquids. J. Am. Chem. Soc.139, 2017, 14568]. In this paper, we report complementary results for a cationic class of 1-alkyl-4-dimethylaminopyridinium electron donors. Reductive quenching of cyano-substituted anthracene fluorophores by these cationic quenchers is studied in solutions of acetonitrile and the ionic liquid 1-ethyl-3-methylimidazolium bis(trifluoromethylsulfonyl)imide. Varying the length of the alkyl chain permits tuning of the quencher diffusivities in solution.more » The observed quenching kinetics are interpreted using a diffusion-reaction analysis. Finally, together with results from the prior study, these results show that the intrinsic electron-transfer rate constant does not depend on the quencher charge in this family of reactions.« less

Human, Mouse, and Rat Genome Large-Scale Rearrangements: Stability Versus Speciation

PubMed Central

Zhao, Shaying; Shetty, Jyoti; Hou, Lihua; Delcher, Arthur; Zhu, Baoli; Osoegawa, Kazutoyo; de Jong, Pieter; Nierman, William C.; Strausberg, Robert L.; Fraser, Claire M.

2004-01-01

Using paired-end sequences from bacterial artificial chromosomes, we have constructed high-resolution synteny and rearrangement breakpoint maps among human, mouse, and rat genomes. Among the >300 syntenic blocks identified are segments of over 40 Mb without any detected interspecies rearrangements, as well as regions with frequently broken synteny and extensive rearrangements. As closely related species, mouse and rat share the majority of the breakpoints and often have the same types of rearrangements when compared with the human genome. However, the breakpoints not shared between them indicate that mouse rearrangements are more often interchromosomal, whereas intrachromosomal rearrangements are more prominent in rat. Centromeres may have played a significant role in reorganizing a number of chromosomes in all three species. The comparison of the three species indicates that genome rearrangements follow a path that accommodates a delicate balance between maintaining a basic structure underlying all mammalian species and permitting variations that are necessary for speciation. PMID:15364903

Rearrangement moves on rooted phylogenetic networks

PubMed Central

Gambette, Philippe; van Iersel, Leo; Jones, Mark; Scornavacca, Celine

2017-01-01

Phylogenetic tree reconstruction is usually done by local search heuristics that explore the space of the possible tree topologies via simple rearrangements of their structure. Tree rearrangement heuristics have been used in combination with practically all optimization criteria in use, from maximum likelihood and parsimony to distance-based principles, and in a Bayesian context. Their basic components are rearrangement moves that specify all possible ways of generating alternative phylogenies from a given one, and whose fundamental property is to be able to transform, by repeated application, any phylogeny into any other phylogeny. Despite their long tradition in tree-based phylogenetics, very little research has gone into studying similar rearrangement operations for phylogenetic network—that is, phylogenies explicitly representing scenarios that include reticulate events such as hybridization, horizontal gene transfer, population admixture, and recombination. To fill this gap, we propose “horizontal” moves that ensure that every network of a certain complexity can be reached from any other network of the same complexity, and “vertical” moves that ensure reachability between networks of different complexities. When applied to phylogenetic trees, our horizontal moves—named rNNI and rSPR—reduce to the best-known moves on rooted phylogenetic trees, nearest-neighbor interchange and rooted subtree pruning and regrafting. Besides a number of reachability results—separating the contributions of horizontal and vertical moves—we prove that rNNI moves are local versions of rSPR moves, and provide bounds on the sizes of the rNNI neighborhoods. The paper focuses on the most biologically meaningful versions of phylogenetic networks, where edges are oriented and reticulation events clearly identified. Moreover, our rearrangement moves are robust to the fact that networks with higher complexity usually allow a better fit with the data. Our goal is to provide a

Genome rearrangement shapes Prochlorococcus ecological adaptation.

PubMed

Yan, Wei; Wei, Shuzhen; Wang, Qiong; Xiao, Xilin; Zeng, Qinglu; Jiao, Nianzhi; Zhang, Rui

2018-06-18

Prochlorococcus is the most abundant and smallest known free-living photosynthetic microorganism and is a key player in marine ecosystems and biogeochemical cycles. Prochlorococcus can be broadly divided into high-light-adapted (HL) and low-light-adapted (LL) clades. In this study, we isolated two low-light-adapted I (LLI) strains from the western Pacific Ocean and obtained their genomic data. We reconstructed Prochlorococcus evolution based on genome rearrangement. Our results showed that genome rearrangement might have played an important role in Prochlorococcus evolution. We also found that the Prochlorococcus clades with streamlined genomes maintained relatively high synteny throughout most of their genomes, and several regions served as rearrangement hotspots. Backbone analysis showed that different clades shared a conserved backbone but also had clade-specific regions, and the genes in these regions were associated with ecological adaptations. Importance Prochlorococcus , the most abundant and smallest known free-living photosynthetic microorganism, play a key role in marine ecosystems and biogeochemical cycles. The Prochlorococcus genome evolution is a fundamental question related to how Prochlorococcus clades adapted to different ecological niches. Recent studies revealed that the gene gain and loss is crucial to the clade differentiation. The significance of our research is that we interpreted the Prochlorococcus genome evolution from the perspective of genome structure, and associated the genome rearrangement with the Prochlorococcus clade differentiation and subsequent ecological adaptation. Copyright © 2018 Yan et al.

A system for the detection of chromosomal rearrangements using Sordaria macrospora.

PubMed

Arnaise, S; Leblon, G; Lares, L

1984-01-01

A system is described for the detection and diagnosis of induced chromosomal rearrangement using Sordaria macrospora. The system uses the property of the rearrangement to produce defective white ascospores as meiotic progeny from heterozygous crosses. Two reconstruction experiments have shown that this system is able to give reliable quantitative measures of rearrangement frequencies. Evidence for a photoreactivation process was obtained, suggesting that pyrimidine dimers may well be an important lesion in UV-induced chromosomal rearrangement. No evidence of induction of chromosomal rearrangement was obtained in experiments with the powerful chemical mutagen N-methyl-N'-nitro-N-nitrosoguanidine.

Neural network for control of rearrangeable Clos networks.

PubMed

Park, Y K; Cherkassky, V

1994-09-01

Rapid evolution in the field of communication networks requires high speed switching technologies. This involves a high degree of parallelism in switching control and routing performed at the hardware level. The multistage crossbar networks have always been attractive to switch designers. In this paper a neural network approach to controlling a three-stage Clos network in real time is proposed. This controller provides optimal routing of communication traffic requests on a call-by-call basis by rearranging existing connections, with a minimum length of rearrangement sequence so that a new blocked call request can be accommodated. The proposed neural network controller uses Paull's rearrangement algorithm, along with the special (least used) switch selection rule in order to minimize the length of rearrangement sequences. The functional behavior of our model is verified by simulations and it is shown that the convergence time required for finding an optimal solution is constant, regardless of the switching network size. The performance is evaluated for random traffic with various traffic loads. Simulation results show that applying the least used switch selection rule increases the efficiency in switch rearrangements, reducing the network convergence time. The implementation aspects are also discussed to show the feasibility of the proposed approach.

Sugammadex Use in a Patient with Wolff-Parkinson-White (WPW) Syndrome

PubMed Central

Şahin, Sevtap Hekimoğlu; Öztekin, İlhan; Kuzucuoğlu, Aytuna; Aslanoğlu, Ayça

2015-01-01

Background: Wolff-Parkinson-White (WPW) syndrome is a disease associated with episodes of supraventricular tachycardia and ventricular pre-excitation or atrial fibrillation. WPW is characterized by an aberrant electrical conduction pathway between atria and ventricles. Case Report: The major anesthetic problem connected with WPW syndrome is the risk of tachyarrhythmias due to accessory pathway. Therefore, it has been proposed that the aim of anesthetic management should be the avoidance of tachyarrhythmia and sympathetic stimulation. Sugammadex was administered as a neuromuscular reversal agent in this case. To our knowledge, this is the first case report of sugammadex use in a patient with WPW. This report presents a case of general anesthesia management in a patient with WPW syndrome. Conclusion: We think that it is appropriate to use sugammadex to reverse rocuronium for the prevention of sudden hemodynamic changes in patients with WPW who underwent general anesthesia. PMID:26185726

Toxic adenoma of the thyroid gland and Wolff-Parkinson-White syndrome

PubMed Central

Naço, M; Çeliku, E; Llukaçaj, A; Shehaj, J; Kameniku, R

2009-01-01

We report the case of a 17-year-old girl with toxic adenoma scheduled for surgery right lobectomy and isthmectomy of thyroid gland. During the examination before surgery, patient was diagnosed for the first time as having with Wolff – Parkinson – White (WPW) syndrome. In the operating room, after the induction of anesthesia, the electrocardiogram showed wide QRS complex tachycardia with a rate of 180 beats/min, which was diagnosed as paroxysmal supraventricular tachycardia. The patient was treated immediately with antiarrhythmic drugs: adenosine iv three times (at doses of 6 mg, 12mg, 12mg bolus) and esmolol iv twice (at doses 28.5 mg). This approach resulted in disappearance of the delta wave and tachycardia for the whole surgery period. In this case report we discuss the role of induction of anesthesia and presence of toxic adenoma in a patient with WPW. PMID:19561784

Rearrangement of Retinogeniculate Projection Patterns after Eye-Specific Segregation in Mice

PubMed Central

Hayakawa, Itaru; Kawasaki, Hiroshi

2010-01-01

It has been of interest whether and when the rearrangement of neuronal circuits can be induced after projection patterns are formed during development. Earlier studies using cats reported that the rearrangement of retinogeniculate projections could be induced even after eye-specific segregation has occurred, but detailed and quantitative characterization of this rearrangement has been lacking. Here we delineate the structural changes of retinogeniculate projections in the C57BL/6 mouse in response to monocular enucleation (ME) after eye-specific segregation. When ME was performed after eye-specific segregation, rearrangement of retinogeniculate axons in the dorsal lateral geniculate nucleus (dLGN) was observed within 5 days. Although this rearrangement was observed both along the dorsomedial-ventrolateral and outer-inner axes in the dLGN, it occurred more rapidly along the outer-inner axis. We also examined the critical period for this rearrangement and found that the rearrangement became almost absent by the beginning of the critical period for ocular dominance plasticity in the primary visual cortex. Taken together, our findings serve as a framework for the assessment of phenotypes of genetically altered mouse strains as well as provide insights into the mechanisms underlying the rearrangement of retinogeniculate projections. PMID:20544023

Nonadiabatic Dynamics of Photoinduced Proton-Coupled Electron Transfer Processes

DTIC Science & Technology

devices and photoelectrochemical cells. Theoretical methodology for simulating the nonadiabatic dynamics of photoinduced PCET reactions in solution has...tuning and control of the ultrafast dynamics is crucial for designing renewable and sustainable energy sources, such as artificial photosynthesis...describes the solute with a multiconfigurational method in a bath of explicit solvent molecules. The transferring hydrogen nucleus is represented as a

Atomic Rearrangements in Electron Attachment to Laser-Excited Molecules^*

NASA Astrophysics Data System (ADS)

Pinnaduwage, Lal; McCorkle, Dennis

1996-10-01

We report the observation of extensive atomic rearrangements in dissociative electron attachment to triethylamine " (Pinnaduwage and McCorkle, Chem.Phys. Lett. (in press, 1996))" and benzene laser excited to energies above their ionization thresholds. Large signal of "rearranged" negative ions, such as C_3^- (which is observed in both cases), were observed. This is in contrast to negative-ion formation via electron attachment to molecules in their ground states, where "rearranged" negative ions are comparatively weak and have been observed only occasionally. However, formation of "rearranged" positive ions is of common occurrence in the ionization of polyatomic molecules; it is possible that the formation of "rearranged" positive ions in the ionization processes, and the formation of such negative ions via electron attachment to excited states located close to the ionization threshold, are related. * Work supported by the LDRD Program of the Oak Ridge National Laboratory, managed by Lockheed Martin Energy Research Corp. for the US Department of Energy under contract number DE-AC05-96OR22464, and by the National Science Foundation under contract CHE-93113949 with the Univ. of Tenn., Knoxville.

Photoinduced piezooptics effect in TeO2-Ga2O3 glasses

NASA Astrophysics Data System (ADS)

Ozga, K.; Fedorchuk, A. O.; Armand, P.

2015-08-01

We have found that during the bicolor illumination by two boicolor coherent wavelengths 1540 nm/770 nm there occurred substantial changes of the elastooptical non-diagonal coefficients at 1150 nm cw laser wavelength. They are maximal at power densities 400 … 500 MW/cm2. The studies have shown that the maximal effect exists for ultra-fast quenching glasses and occurs after the 1-2 min of the treatment. The switching off of the optical treatment leads to the disappearance of the photoinduced piezooptics at about 100 ms. The observed changes are explained within the photoinduced changes of the charge density distribution for the principal structural clusters within a framework of the DFT approach. The studies were done both for diagonal as well as off-diagonal piezooptical effect (POE) tensor components.

Photo-induced electron transfer method

DOEpatents

Wohlgemuth, R.; Calvin, M.

1984-01-24

The efficiency of photo-induced electron transfer reactions is increased and the back transfer of electrons in such reactions is greatly reduced when a photo-sensitizer zinc porphyrin-surfactant and an electron donor manganese porphyrin-surfactant are admixed into phospholipid membranes. The phospholipids comprising said membranes are selected from phospholipids whose head portions are negatively charged. Said membranes are contacted with an aqueous medium in which an essentially neutral viologen electron acceptor is admixed. Catalysts capable of transferring electrons from reduced viologen electron acceptor to hydrogen to produce elemental hydrogen are also included in the aqueous medium. An oxidizable olefin is also admixed in the phospholipid for the purpose of combining with oxygen that coordinates with oxidized electron donor manganese porphyrin-surfactant.

Photo-induced electron transfer method

DOEpatents

Wohlgemuth, Roland; Calvin, Melvin

1984-01-01

The efficiency of photo-induced electron transfer reactions is increased and the back transfer of electrons in such reactions is greatly reduced when a photo-sensitizer zinc porphyrin-surfactant and an electron donor manganese porphyrin-surfactant are admixed into phospho-lipid membranes. The phospholipids comprising said membranes are selected from phospholipids whose head portions are negatively charged. Said membranes are contacted with an aqueous medium in which an essentially neutral viologen electron acceptor is admixed. Catalysts capable of transfering electrons from reduced viologen electron acceptor to hydrogen to produce elemental hydrogen are also included in the aqueous medium. An oxidizable olefin is also admixed in the phospholipid for the purpose of combining with oxygen that coordinates with oxidized electron donor manganese porphyrin-surfactant.

A complex, five breakpoint intrachromosomal rearrangement ascertained through two recombinant offspring

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tuck-Muller, C.M.; Li, Shibo; Chen, H.

Intrachromosomal rearrangements usually result from three or fewer breaks. We report a complex intrachromosomal rearrangement resulting from five breaks in one chromosome 10 of a phenotypically normal father of two developmentally delayed children. GTG-banding analysis of the father`s rearranged chromosome 10 suggested an initial pericentric inversion followed by an insertion from the short arm into the terminal band of the long arm. To our knowledge, this rearrangement is the most complex ever reported in a single chromosome. Both children inherited a recombinant chromosome 10 with loss of the insertion and the segment distal to it. Mechanisms for both rearrangements aremore » proposed. 7 refs., 2 figs.« less

Percutenous Catheter Ablation of the Accessory Pathway in a Patient with Wolff-Parkinson-White Syndrome Associated with Familial Atrial Fibrillation

PubMed Central

Cay, Serkan; Topaloglu, Serkan; Aras, Dursun

2008-01-01

Percutenous catheter ablation of the accessory pathway in Wolff-Parkinson-White syndrome is a highly successful mode of therapy. Sudden cardiac arrest survivors associated with WPW syndrome should undergo radiofrequency catheter ablation. WPW syndrome associated with familial atrial fibrillation is a very rare condition. Herein, we describe a case who presented with sudden cardiac arrest secondary to WPW syndrome and familial atrial fibrillation and treated via radiofrequency catheter ablation. PMID:18379660

Risk of malignant arrhythmias in initially symptomatic patients with Wolff-Parkinson-White syndrome: results of a prospective long-term electrophysiological follow-up study.

PubMed

Pappone, Carlo; Vicedomini, Gabriele; Manguso, Francesco; Baldi, Mario; Pappone, Alessia; Petretta, Andrea; Vitale, Raffaele; Saviano, Massimo; Ciaccio, Cristiano; Giannelli, Luigi; Calovic, Zarko; Tavazzi, Luigi; Santinelli, Vincenzo

2012-02-07

The available amount of detailed long-term data in patients with Wolff-Parkinson-White syndrome is limited, and no prospective electrophysiological studies looking at predictors of malignant arrhythmia are available. Among 8575 symptomatic Wolff-Parkinson-White patients with atrioventricular reentrant tachycardia referred for electrophysiological test, 369 (mean age, 23±12.5 years) declined catheter ablation and were followed up. The primary end point of the study was to evaluate over a 5-year follow-up the predictors and characteristics of patients who develop malignant arrhythmias. After a mean follow-up of 42.1±10 months, malignant arrhythmias developed in 29 patients (mean age, 13.9±5.6 years; 26 male), resulting in presyncope/syncope (25 patients), hemodynamic collapse (3 patients), or cardiac arrest caused by ventricular fibrillation (1 patient). Of the remaining 340 patients, 168 (mean age, 34.2±9.0 years) remained asymptomatic up to 5 years, and 172 (mean age, 13.6±5.1 years) had benign recurrence, including sustained atrioventricular reentrant tachycardia (132 patients) or atrial fibrillation (40 patients). Compared with the group with no malignant arrhythmias, the group with malignant arrhythmias showed shorter accessory-pathway effective refractory period (P<0.001) and more often exhibited multiple accessory pathways (P<0.001), and atrioventricular reentrant tachycardia triggering sustained pre-excited atrial fibrillation was more frequently inducible (P<0.001). Multivariable analysis demonstrated that short accessory-pathway effective refractory period (P<0.001) and atrioventricular reentrant tachycardia triggering sustained pre-excited atrial fibrillation (P<0.001) were independent predictors of malignant arrhythmias. Symptomatic patients with Wolff-Parkinson-White syndrome generally have a good outcome, and predictors of malignant arrhythmias are similar to those reported for asymptomatic patients with ventricular pre-excitation.

The prominent photoinduced voltage effect of as-prepared macroscopically long Ag core/Ni shell nanoheterojunctions.

PubMed

Sun, Jia-Lin; Zhao, Xingchen; Zhu, Jia-Lin

2008-02-27

Macroscopically long Ag core/Ni shell nanoheterojunctions have been well prepared by a dynamic growth approach. The structure characterized in detail by scanning electron microscopy reveals that the Ag nanowire bundles are wrapped in Ni nanoshields and form multicore coaxial cable frames. Notable photoinduced voltage with a fine repeatability, for irradiation with a laser, is exhibited compared with the case for bulk Ag pole/Ni shell heterojunctions and Ag nanowire bundle/bulk Ni heterojunctions. The prominent photoinduced voltage and the substantial metal nanoscale Ohmic interconnects provided by this kind of nanoheterojunction may have a wide range of applications in the future.

Exciplex mediated photoinduced electron transfer reactions of phthalocyanine-fullerene dyads.

PubMed

Niemi, Marja; Tkachenko, Nikolai V; Efimov, Alexander; Lehtivuori, Heli; Ohkubo, Kei; Fukuzumi, Shunichi; Lemmetyinen, Helge

2008-07-31

Evidences of an intramolecular exciplex intermediate in a photoinduced electron transfer (ET) reaction of double-linked free-base and zinc phthalocyanine-C60 dyads were found. This was the first time for a dyad with phthalocyanine donor. Excitation of the phthalocyanine moiety of the dyads results in rapid ET from phthalocyanine to fullerene via an exciplex state in both polar and nonpolar solvents. Relaxation of the charge-separated (CS) state Pc(*+)-C60(*-) in a polar solvent occurs directly to the ground state in 30-70 ps. In a nonpolar solvent, roughly 20% of the molecules undergo transition from the CS state to phthalocyanine triplet state (3)Pc*-C60 before relaxation to the ground state. Formation of the CS state was confirmed with electron spin resonance measurements at low temperature in both polar and nonpolar solvent. Reaction schemes for the photoinduced ET reactions of the dyads were completed with rate constants obtained from the time-resolved absorption and emission measurements and with state energies obtained from the fluorescence, phosphorescence, and voltammetric measurements.

Nonlinear photomagnetism of metals: Theory of nonlinear photoinduced dc current

NASA Astrophysics Data System (ADS)

Afonin, V. V.; Gurevich, V. L.; Laiho, R.

1995-07-01

Photoinduced magnetic flux has recently been observed in normal metals exposed to light. This effect is partly due to the fact that the light reflected from a metal surface transfers to the conduction electrons some of its quasimomentum. This creates a dc surface current which, for an appropriate geometry, brings about the photomagnetic effect. There is another contribution to the current that is due to anisotropy of the probabilities of electron transitions induced by the light, in combination with diffuse reflection of the electrons at the surface. We present here a theory of the dependence of the photoinduced current on the intensity of light Q. We assume that the light intensity is either constant or the time scale of its variation is much larger than the inverse Rabi frequency corresponding to the interband electron transition. At comparatively low intensities the current is proportional to Q. At higher intensities it varies as Q1/2. The physical origin of such behavior is analyzed. Various factors that allow a lowering of the critical intensity for the onset of the nonlinear behavior are discussed.

Ultrafast photo-induced hidden phases in strained manganite thin films

NASA Astrophysics Data System (ADS)

Zhang, Jingdi; McLeod, A. S.; Zhang, Gu-Feng; Stoica, Vladimir; Jin, Feng; Gu, Mingqiang; Gopalan, Venkatraman; Freeland, John W.; Wu, Wenbin; Rondinelli, James; Wen, Haidan; Basov, D. N.; Averitt, R. D.

Correlated transition metal oxides (TMOs) are particularly sensitive to external control because of energy degeneracy in a complex energy landscape that promote a plethora of metastable states. However, it remains a grand challenge to actively control and fully explore the rich landscape of TMOs. Dynamic control with pulsed photons can overcome energetic barriers, enabling access to transient or metastable states that are not thermally accessible. In the past, we have demonstrated that mode-selective single-laser-pulse excitation of a strained manganite thin film La2/3Ca1/3MnO3 initiates a persistent phase transition from an emergent antiferromagnetic insulating ground state to a ferromagnetic metallic metastable state. Beyond the photo-induced insulator to metal transition, we recently discovered a new peculiar photo-induced hidden phase, identified by an experimental approach that combines ultrafast pump-probe spectroscopy, THz spectroscopy, X-ray diffraction, cryogenic near-field spectroscopy and SHG probe. This work is funded by the DOE, Office of Science, Office of Basic Energy Science under Award Numbers DE-SC0012375 and DE-SC0012592.

A bifunctional amorphous polymer exhibiting equal linear and circular photoinduced birefringences.

PubMed

Royes, Jorge; Provenzano, Clementina; Pagliusi, Pasquale; Tejedor, Rosa M; Piñol, Milagros; Oriol, Luis

2014-11-01

The large and reversible photoinduced linear and circular birefringences in azo-compounds are at the basis of the interest in these materials, which are potentially useful for several applications. Since the onset of the linear and circular anisotropies relies on orientational processes, which typically occur on the molecular and supramolecular length scale, respectively, a circular birefringence at least one order of magnitude lower than the linear one is usually observed. Here, the synthesis and characterization of an amorphous polymer with a dimeric repeating unit containing a cyanoazobenzene and a cyanobiphenyl moiety are reported, in which identical optical linear and circular birefringences are induced for proper light dose and ellipticity. A pump-probe technique and an analytical method based on the Stokes-Mueller formalism are used to investigate the photoinduced effects and to evaluate the anisotropies. The peculiar photoresponse of the polymer makes it a good candidate for applications in smart functional devices. © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Photo-induced toxicity in early life stage fiddler crab (Uca longisignalis) following exposure to Deepwater Horizon oil.

PubMed

Damare, Leigh M; Bridges, Kristin N; Alloy, Matthew M; Curran, Thomas E; Soulen, Brianne K; Forth, Heather P; Lay, Claire R; Morris, Jeffrey M; Stoeckel, James A; Roberts, Aaron P

2018-05-01

The 2010 explosion of the Deepwater Horizon (DWH) oil rig led to the release of millions of barrels of oil in the Gulf of Mexico. Oil in aquatic ecosystems exerts toxicity through multiple mechanisms, including photo-induced toxicity following co-exposure with UV radiation. The timing and location of the spill coincided with both fiddler crab reproduction and peak yearly UV intensities, putting early life stage fiddler crabs at risk of injury due to photo-induced toxicity. The present study assessed sensitivity of fiddler crab larvae to photo-induced toxicity during co-exposure to a range of environmentally relevant dilutions of high-energy water accommodated fractions of DWH oil, and either <10, 50, or 100% ambient sunlight, achieved with filters that allowed for variable UV penetration. Solar exposures (duration: 7-h per day) were conducted for two consecutive days, with a dark recovery period (duration: 17-h) in between. Survival was significantly decreased in treatments the presence of >10% UV and relatively low concentrations of oil. Results of the present study indicate fiddler crab larvae are sensitive to photo-induced toxicity in the presence of DWH oil. These results are of concern, as fiddler crabs play an important role as ecosystem engineers, modulating sediment biogeochemical processes via burrowing action. Furthermore, they occupy an important place in the food web in the Gulf of Mexico.

Mechanistic insights into the photoinduced charge carrier dynamics of BiOBr/CdS nanosheet heterojunctions for photovoltaic application.

PubMed

Jia, Huimin; Zhang, Beibei; He, Weiwei; Xiang, Yong; Zheng, Zhi

2017-03-02

The rational design of high performance hetero-structure photovoltaic devices requires a full understanding of the photoinduced charge transfer mechanism and kinetics at the interface of heterojunctions. In this paper, we intelligently fabricated p-BiOBr/n-CdS heterojunctions with perfect nanosheet arrays by using a facile successive ionic layer adsorption and reaction and chemical bath deposition methods at low temperature. A BiOBr/CdS heterojunction based solar cell has been fabricated which exhibited enhanced photovoltaic responses. Assisted by the surface photovoltage (SPV), transient photovoltage (TPV) and Kelvin probe technique, the photoinduced charge transfer dynamics on the BiOBr nanosheet and p-BiOBr/n-CdS interface were systematically investigated. It was found that the BiOBr/CdS nanosheet array heterojunctions were more efficient in facilitating charge carrier separation than both bare BiOBr and CdS films. The mechanism underlying the photoinduced charge carrier transfer behaviour was unravelled by allying the energy band of BiOBr/CdS p-n junctions from both the interfacial electric field and surface electric field. In addition, the CdS loading thickness in the p-BiOBr/n-CdS heterojunction and the incident wavelength affected greatly the transfer behavior of photoinduced charges, which was of great value for design of photovoltaic devices.

Photo-induced reactions from efficient molecular dynamics with electronic transitions using the FIREBALL local-orbital density functional theory formalism.

PubMed

Zobač, Vladimír; Lewis, James P; Abad, Enrique; Mendieta-Moreno, Jesús I; Hapala, Prokop; Jelínek, Pavel; Ortega, José

2015-05-08

The computational simulation of photo-induced processes in large molecular systems is a very challenging problem. Firstly, to properly simulate photo-induced reactions the potential energy surfaces corresponding to excited states must be appropriately accessed; secondly, understanding the mechanisms of these processes requires the exploration of complex configurational spaces and the localization of conical intersections; finally, photo-induced reactions are probability events, that require the simulation of hundreds of trajectories to obtain the statistical information for the analysis of the reaction profiles. Here, we present a detailed description of our implementation of a molecular dynamics with electronic transitions algorithm within the local-orbital density functional theory code FIREBALL, suitable for the computational study of these problems. As an example of the application of this approach, we also report results on the [2 + 2] cycloaddition of ethylene with maleic anhydride and on the [2 + 2] photo-induced polymerization reaction of two C60 molecules. We identify different deactivation channels of the initial electron excitation, depending on the time of the electronic transition from LUMO to HOMO, and the character of the HOMO after the transition.

Investigating plausible mechanisms for the photo-induced partial unfolding of a globular protein

NASA Astrophysics Data System (ADS)

Parker, James E.

Two hypotheses are proposed to explain the photo-induced unfolding of β-lactoglobulin (BLG) that occurs when non-covalently bound to a dye molecule, meso-tetrakis (p-sulfonatophenyl) porphyrin (TSPP), and illuminated by a laser in the post-Tanford transition configuration. The first involves a photo-induced electron transfer from the porphyrin to the protein. The second involves the production of kynurenine by singlet oxygen that is generated during photo-excitation of the porphyrin. To evaluate these hypotheses, a series of computational and experimental results have been combined to establish the physical state of the BLG-TSPP complex and to estimate the likelihood of a post-irradiation event to initiate the partial unfolding. Determining the binding site location is crucial to establish the position of the photo-induced events and the likely end-product. A study of the vibronic state of the BLG-TSPP complex using resonant Raman and absorption spectroscopy coupled with density functional theory (DFT) and docking simulations is used to estimate the location of the binding site. Once the binding site is found, molecular dynamics simulations of the post-irradiation event relaxations in the protein are used to estimate the resulting secondary structure. This structure is compared to experimental estimates of the secondary structure of the unfolded protein to determine which hypothesis is the most likely mechanism to explain the unfolding.

Intrachromosomal Rearrangements in Rodents from the Perspective of Comparative Region-Specific Painting

PubMed Central

Serdyukova, Natalya A.; Perelman, Polina L.; Pavlova, Svetlana V.; Bulatova, Nina S.; Golenishchev, Feodor N.; Stanyon, Roscoe

2017-01-01

It has long been hypothesized that chromosomal rearrangements play a central role in different evolutionary processes, particularly in speciation and adaptation. Interchromosomal rearrangements have been extensively mapped using chromosome painting. However, intrachromosomal rearrangements have only been described using molecular cytogenetics in a limited number of mammals, including a few rodent species. This situation is unfortunate because intrachromosomal rearrangements are more abundant than interchromosomal rearrangements and probably contain essential phylogenomic information. Significant progress in the detection of intrachromosomal rearrangement is now possible, due to recent advances in molecular biology and bioinformatics. We investigated the level of intrachromosomal rearrangement in the Arvicolinae subfamily, a species-rich taxon characterized by very high rate of karyotype evolution. We made a set of region specific probes by microdissection for a single syntenic region represented by the p-arm of chromosome 1 of Alexandromys oeconomus, and hybridized the probes onto the chromosomes of four arvicolines (Microtus agrestis, Microtus arvalis, Myodes rutilus, and Dicrostonyx torquatus). These experiments allowed us to show the intrachromosomal rearrangements in the subfamily at a significantly higher level of resolution than previously described. We found a number of paracentric inversions in the karyotypes of M. agrestis and M. rutilus, as well as multiple inversions and a centromere shift in the karyotype of M. arvalis. We propose that during karyotype evolution, arvicolines underwent a significant number of complex intrachromosomal rearrangements that were not previously detected. PMID:28867774

Microfluidic photoinduced chemical oxidation for Ru(bpy)33+ chemiluminescence - A comprehensive experimental comparison with on-chip direct chemical oxidation.

PubMed

Kadavilpparampu, Afsal Mohammed; Al Lawati, Haider A J; Suliman, Fakhr Eldin O

2017-08-05

For the first time, the analytical figures of merit in detection capabilities of the very less explored photoinduced chemical oxidation method for Ru(bpy) 3 2+ CL has been investigated in detail using 32 structurally different analytes. It was carried out on-chip using peroxydisulphate and visible light and compared with well-known direct chemical oxidation approaches using Ce(IV). The analytes belong to various chemical classes such as tertiary amine, secondary amine, sulphonamide, betalactam, thiol and benzothiadiazine. Influence of detection environment on CL emission with respect to method of oxidation was evaluated by changing the buffers and pH. The photoinduced chemical oxidation exhibited more universal nature for Ru(bpy) 3 2+ CL in detection towards selected analytes. No additional enhancers, reagents, or modification in instrumental configuration were required. Wide detectability and enhanced emission has been observed for analytes from all the chemical classes when photoinduced chemical oxidation was employed. Some of these analytes are reported for the first time under photoinduced chemical oxidation like compounds from sulphonamide, betalactam, thiol and benzothiadiazine class. On the other hand, many of the selected analytes including tertiary and secondary amines such as cetirizine, azithromycin fexofenadine and proline did not produced any analytically useful CL signal (S/N=3 or above for 1μgmL -1 analyte) under chemical oxidation. The most fascinating observations was in the detection limits; for example ofloxacin was 15 times more intense with a detection limit of 5.81×10 -10 M compared to most lowest ever reported 6×10 -9 M. Earlier, penicillamine was detected at 0.1μgmL -1 after derivatization using photoinduced chemical oxidation, but in this study, we improved it to 5.82ngmL -1 without any prior derivatization. The detection limits of many other analytes were also found to be improved by several orders of magnitude under photoinduced

Microfluidic photoinduced chemical oxidation for Ru(bpy)33 + chemiluminescence - A comprehensive experimental comparison with on-chip direct chemical oxidation

NASA Astrophysics Data System (ADS)

Kadavilpparampu, Afsal Mohammed; Al Lawati, Haider A. J.; Suliman, Fakhr Eldin O.

2017-08-01

For the first time, the analytical figures of merit in detection capabilities of the very less explored photoinduced chemical oxidation method for Ru(bpy)32 + CL has been investigated in detail using 32 structurally different analytes. It was carried out on-chip using peroxydisulphate and visible light and compared with well-known direct chemical oxidation approaches using Ce(IV). The analytes belong to various chemical classes such as tertiary amine, secondary amine, sulphonamide, betalactam, thiol and benzothiadiazine. Influence of detection environment on CL emission with respect to method of oxidation was evaluated by changing the buffers and pH. The photoinduced chemical oxidation exhibited more universal nature for Ru(bpy)32 + CL in detection towards selected analytes. No additional enhancers, reagents, or modification in instrumental configuration were required. Wide detectability and enhanced emission has been observed for analytes from all the chemical classes when photoinduced chemical oxidation was employed. Some of these analytes are reported for the first time under photoinduced chemical oxidation like compounds from sulphonamide, betalactam, thiol and benzothiadiazine class. On the other hand, many of the selected analytes including tertiary and secondary amines such as cetirizine, azithromycin fexofenadine and proline did not produced any analytically useful CL signal (S/N = 3 or above for 1 μgmL- 1 analyte) under chemical oxidation. The most fascinating observations was in the detection limits; for example ofloxacin was 15 times more intense with a detection limit of 5.81 × 10- 10 M compared to most lowest ever reported 6 × 10- 9 M. Earlier, penicillamine was detected at 0.1 μg mL- 1 after derivatization using photoinduced chemical oxidation, but in this study, we improved it to 5.82 ng mL- 1 without any prior derivatization. The detection limits of many other analytes were also found to be improved by several orders of magnitude under

A Comparison of Photo-Induced Hysteresis Between Hydrogenated Amorphous Silicon and Amorphous IGZO Thin-Film Transistors.

PubMed

Ha, Tae-Jun; Cho, Won-Ju; Chung, Hong-Bay; Koo, Sang-Mo

2015-09-01

We investigate photo-induced instability in thin-film transistors (TFTs) consisting of amorphous indium-gallium-zinc-oxide (a-IGZO) as active semiconducting layers by comparing with hydrogenated amorphous silicon (a-Si:H). An a-IGZO TFT exhibits a large hysteresis window in the illuminated measuring condition but no hysteresis window in the dark condition. On the contrary, a large hysteresis window measured in the dark condition in a-Si:H was not observed in the illuminated condition. Even though such materials possess the structure of amorphous phase, optical responses or photo instability in TFTs looks different from each other. Photo-induced hysteresis results from initially trapped charges at the interface between semiconductor and dielectric films or in the gate dielectric which possess absorption energy to interact with deep trap-states and affect the movement of Fermi energy level. In order to support our claim, we also perform CV characteristics in photo-induced hysteresis and demonstrate thermal-activated hysteresis. We believe that this work can provide important information to understand different material systems for optical engineering which includes charge transport and band transition.

Perovskites for Photovoltaics in the Spotlight: Photoinduced Physical Changes and Their Implications.

PubMed

Gottesman, Ronen; Zaban, Arie

2016-02-16

Organic-inorganic halide perovskites are in consensus to revolutionize the field of photovoltaics and optoelectronic devices due to their superior optical and electronic properties which are unprecedented in comparison to those of other solution processed semiconductors. These hybrid materials are used as light absorbers and also as charge carriers which makes them very versatile to be implemented and studied in a multitude of fields. Traditionally, the working paradigm in solar cells and optoelectronic devices' characterization has been that the properties of photovoltaic materials remain stable following illumination of varying times and intensities. However, recently there has been a growing number of reports on prolonged illumination-dependent physical changes in perovskite films and perovskite based devices. The changes are reversible and range from structural transformations and differences in optical characteristics, to an increase in optoelectronic properties and physical parameters. In this Account, we review the physical changes in three reported model systems which display changes under prolonged illumination of light intensities of ∼0.01-1 sun. The three systems are (i) a free-standing perovskite film on a glass substrate, (ii) a symmetrical system with nonselective electrical contacts, and (iii) a working perovskite solar cell (either a planar or a porous structure). We examine each model system and discuss its photoinduced physical changes and conclude with the implications on future experimentation design, data analysis, and characterization that involve organic-inorganic halide perovskites illumination. Since hybrid perovskites are considered to be mixed ionic-electronic conductors in nature, ions that migrate in the perovskite under electrical fields can influence its properties. Therefore, an important distinction is made between photoinduced effects and photo and electric field induced effects. Thus, photoinduced effects are designated as

[Evaluation of the radiofrequency ablation effectiveness in patients with the Wolff-Parkinson-White syndrome].

PubMed

Ushakov, I B; Ardashev, A V; Ardashev, V N; Voronkov, Iu I; Sharoĭko, M V; Akimova, O S

2012-01-01

A one-year prospective study involved 22 patients with the Wolff-Parkinson-White syndrome (WPW) and 20 healthy people. Means age of patients was 34.3 +/- 16.3 years. All 22 patients were successfully treated with radiofrequency ablation (RFA) of additional pathways. RFA effectiveness was evaluated with the help of clinical questionnaire, data of ECG, EchoCG, heart rate variability (HRV), frequency response and nonlinear dynamics. Cardiac rhythm disturbances were verified using Holter monitoring applied to all patients. Positive clinical effect was achieved in all the WPW patients, as RFA arrested cardiac arrhythmias completely. Holter monitoring did not register cardiac disturbances which points to high RFA effectiveness in WPW patients. HRV, frequency response and nonlinear dynamics reassumed their normal patterns.

Analysis of Expressed and Non-Expressed IGK Locus Rearrangements in Chronic Lymphocytic Leukemia

PubMed Central

Belessi, Chrysoula; Stamatopoulos, Kostas; Hadzidimitriou, Anastasia; Hatzi, Katerina; Smilevska, Tatjana; Stavroyianni, Niki; Marantidou, Fotini; Paterakis, George; Fassas, Athanasios; Anagnostopoulos, Achilles; Laoutaris, Nikolaos

2005-01-01

Immunoglobulin κ (IGK) locus rearrangements were analyzed in parallel on cDNA/genomic DNA in 188 κ- and 103 λ-chronic lymphocytic leukemia (CLL) cases. IGKV-KDE and IGKJ-C-intron-KDE rearrangements were also analyzed on genomic DNA. In κ-CLL, only 3 of 188 cases carried double in-frame IGKV-J transcripts: in such cases, the possibility that leukemic cells expressed more than one κ chain cannot be excluded. Twenty-eight κ-CLL cases also carried nonexpressed (nontranscribed and/or out-of-frame) IGKV-J rearrangements. Taking IGKV-J, IGKV-KDE, and IGKJ-C-intron-KDE rearrangements together, 38% of κ-CLL cases carried biallelic IGK locus rearrangements. In λ-CLL, 69 IGKV-J rearrangements were detected in 64 of 103 cases (62%); 24 rearrangements (38.2%) were in-frame. Four cases carried in-frame IGKV-J transcripts but retained monotypic light-chain expression, suggesting posttranscriptional regulation of allelic exclusion. In all, taking IGKV-J, IGKV-KDE, and IGKJ-C-intron-KDE rearrangements together, 97% of λ-CLL cases had at least 1 rearranged IGK allele, in keeping with normal cells. IG repertoire comparisons in κ- versus λ-CLL revealed that CLL precursor cells tried many rearrangements on the same IGK allele before they became λ producers. Thirteen of 28 and 26 of 69 non-expressed sequences in, respectively, κ- or λ-CLL had < 100% homology to germline. This finding might be considered as evidence for secondary rearrangements occurring after the onset of somatic hypermutation, at least in some cases. The inactivation of potentially functional IGKV-J joints by secondary rearrangements indicates active receptor editing in CLL and provides further evidence for the role of antigen in CLL immunopathogenesis. PMID:16622520

Photon energy dependence of photo-induced inverse spin-Hall effect in Pt/GaAs and Pt/Ge

DOE Office of Scientific and Technical Information (OSTI.GOV)

Isella, Giovanni, E-mail: giovanni.isella@polimi.it; Bottegoni, Federico; Ferrari, Alberto

2015-06-08

We report the photon energy dependence of photo-induced inverse spin Hall effect (ISHE) in Pt/GaAs and Pt/Ge Schottky junctions. The experimental results are compared with a spin drift-diffusion model, which highlights the role played by the different spin lifetime in the two semiconductors, in determining the energy dependence of the ISHE signal detected in the Pt layer. The good qualitative agreement between experiments and modelling indicates that photo-induced ISHE can be used as a tool to characterize spin lifetime in semiconductors.

Photoinduced DNA Interstrand Cross-Link Formation by Naphthalene Boronates via a Carbocation.

PubMed

Wang, Yibin; Lin, Zechao; Fan, Heli; Peng, Xiaohua

2016-07-18

Most photoinduced DNA cross-link formation by a bifunctional aryl derivative is through a bisquinone methide. DNA cross-linking via a bisarylcarbocation remains a less explored area. We designed and synthesized a series of naphthalene boronates that produce DNA interstrand cross-links via a carbocation upon UV irradiation. A free radical was generated from the naphthalene boronates with 350 nm irradiation and further converted to a carbocation by electron transfer. The activation mechanism was determined using the orthogonal traps, 2,2,6,6-tetramethylpiperidin-1-oxyl (TEMPO) and methoxyamine that react with either the free radical or the carbocation but not both. This represents a novel example of photoinduced DNA cross-link formation via carbocations generated from a bisaryl derivative. This work provides information useful for the design of novel photoactivated DNA cross-linking agents. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

10 CFR 2.909 - Rearrangement or suspension of proceedings.

Code of Federal Regulations, 2010 CFR

2010-01-01

... 10 Energy 1 2010-01-01 2010-01-01 false Rearrangement or suspension of proceedings. 2.909 Section 2.909 Energy NUCLEAR REGULATORY COMMISSION RULES OF PRACTICE FOR DOMESTIC LICENSING PROCEEDINGS AND.../or National Security Information § 2.909 Rearrangement or suspension of proceedings. In any...

10 CFR 2.909 - Rearrangement or suspension of proceedings.

Code of Federal Regulations, 2011 CFR

2011-01-01

... 10 Energy 1 2011-01-01 2011-01-01 false Rearrangement or suspension of proceedings. 2.909 Section 2.909 Energy NUCLEAR REGULATORY COMMISSION RULES OF PRACTICE FOR DOMESTIC LICENSING PROCEEDINGS AND.../or National Security Information § 2.909 Rearrangement or suspension of proceedings. In any...

Photoinduced Processes in Cobalt-Complexes: Condensed Phase and Gas Phase

NASA Astrophysics Data System (ADS)

Rupp, F.; Chevalier, K.; Wolf, M. M. N.; Krüger, H.-J.; Wüllen, C. v.; Nosenko, Y.; Niedner-Schatteburg, Y.; Riehn, C.; Diller, R.

2013-03-01

Femtosecond time-resolved, steady-state spectroscopic methods and quantum chemical calculations are employed to study ultrafast photoinduced processes in [Co(III)-(L-N4Me2)(dbc)](BPh4) and [Co(II)-(L-N4tBu2)(dbsq)](B(p-C6H4Cl)4) and to characterise the transient redox- and spin-states in condensed and gas phase.

Rearrangement of Immunoglobulin Genes in Shark Germ Cells

PubMed Central

Lee, Susan S.; Fitch, David; Flajnik, Martin F.; Hsu, Ellen

2000-01-01

The variable (V), (diversity [D]), and joining (J) region recombinases (recombination activating genes [RAGs]) can perform like transposases and are thought to have initiated development of the adaptive immune system in early vertebrates by splitting archaic V genes with transposable elements. In cartilaginous fishes, the immunoglobulin (Ig) light chain genes are organized as multiple VJ-constant (C) clusters; some loci are capable of rearrangement while others contain fused VJ. The latter may be key to understanding the evolutionary role of RAG. Are they relics of the archaic genes, or are they results of rearrangement in germ cells? Our data suggest that some fused VJ genes are not only recently rearranged, but also resulted from RAG-like activity involving hairpin intermediates. Expression studies show that these, like some other germline-joined Ig sequences, are expressed at significant levels only early in ontogeny. We suggest that a rejoined Ig gene may not merely be a sequence restricting antibody diversity, but is potentially a novel receptor no longer tied to somatic RAG expression and rearrangement. From the combined data, we arrived at the unexpected conclusion that, in some vertebrates, RAG is still an active force in changing the genome. PMID:10811858

Successful ablation of a right atrium-axillary ventricular accessory pathway associated with Wolff-Parkinson-White syndrome.

PubMed

Yuan, Yuan; Long, Deyong; Dong, Jianzeng; Tao, Ling; Ma, Changsheng

2017-12-01

We report a case of a patient with right axillary ventricular. Similar congenital anomaly of the right atrium was reported as "right appendage diverticulum or right atrial diverticulum." However, this independent chamber has its own annulus, synchronizes with the right ventricular, and generates large ventricular potential. Under the guidance of the CARTO mapping system (Biosense Webster, Diamond Bar, CA, USA), a right atrioventricular accessory pathway associated with type B Wolff-Parkinson-White syndrome was ablated successfully. This pathway was close to the annulus of the axillary ventricular. The patient remained free of arrhythmia at 1-year follow-up. © 2017 Wiley Periodicals, Inc.

Spontaneous Transition of Double Tachycardias with Atrial Fusion in a Patient with Wolff-Parkinson-White Syndrome.

PubMed

Kim, Dongmin; Lee, Myung-Yong

2016-07-01

Among patients with Wolff-Parkinson-White syndrome, atrioventricular reciprocating tachycardia (AVRT) and atrioventricular nodal reentrant tachycardia (AVNRT) can coexist in a single patient. Direct transition of both tachycardias is rare; however, it can occur after premature atrial or ventricular activity if the cycle lengths of the two tachycardias are similar. Furthermore, persistent atrial activation by an accessory pathway (AP) located outside of the AV node during ongoing AVNRT is also rare. This article describes a case of uncommon atrial activation by an AP during AVNRT and gradual transition of the two supraventricular tachycardias without any preceding atrial or ventricular activity in a patient with preexcitation syndrome.

Successful Radiofrequency Catheter Ablation for Wolff-Parkinson-White Syndrome Within the Neck of a Coronary Sinus Diverticulum

PubMed Central

Jang, Sung-Won; Kim, Dong-Bin; Kwon, Bum-Jun; Cho, Eun-Joo; Shin, Woo-Seung; Kim, Ji-Hoon; Jin, Seung-Won; Oh, Yong-Seog; Lee, Man-Young; Kim, Jae-Hyung

2009-01-01

Posteroseptal accessory pathways are often associated with coronary sinus diverticula. These diverticula contain myocardial coats which serve as a bypass tract. We report a 54-year-old woman who underwent radiofrequency (RF) catheter ablation for Wolff-Parkinson-White (WPW) syndrome. The surface electrocardiography (ECG) demonstrated pre-excitation, indicating a posteroseptal accessory pathway. A catheter ablation via a transaortic approach failed to ablate the accessory pathway. Coronary sinus venography revealed the presence of a diverticulum near the ostium. An electrogram in the neck of the diverticulum showed the coronary sinus myocardial extension potential, which was successfully ablated by delivery of RF energy. PMID:19949625

Polyomavirus BK non-coding control region rearrangements in health and disease.

PubMed

Sharma, Preety M; Gupta, Gaurav; Vats, Abhay; Shapiro, Ron; Randhawa, Parmjeet S

2007-08-01

BK virus is an increasingly recognized pathogen in transplanted patients. DNA sequencing of this virus shows considerable genomic variability. To understand the clinical significance of rearrangements in the non-coding control region (NCCR) of BK virus (BKV), we report a meta-analysis of 507 sequences, including 40 sequences generated in our own laboratory, for associations between rearrangements and disease, tissue tropism, geographic origin, and viral genotype. NCCR rearrangements were less frequent in (a) asymptomatic BKV viruria compared to patients viral nephropathy (1.7% vs. 22.5%), and (b) viral genotype 1 compared to other genotypes (2.4% vs. 11.2%). Rearrangements were commoner in malignancy (78.6%), and Norwegians (45.7%), and less common in East Indians (0%), and Japanese (4.3%). A surprising number of rearranged sequences were reported from mononuclear cells of healthy subjects, whereas most plasma sequences were archetypal. This difference could not be related to potential recombinase activity in lymphocytes, as consensus recombination signal sequences could not be found in the NCCR region. NCCR rearrangements are neither required nor a sufficient condition to produce clinical disease. BKV nephropathy and hemorrhagic cystitis are not associated with any unique NCCR configuration or nucleotide sequence.

Heterogeneity of BCR-ABL rearrangement in patients with chronic myeloid leukemia in Pakistan.

PubMed

Tabassum, Najia; Saboor, Mohammad; Ghani, Rubina; Moinuddin, Moinuddin

2014-07-01

Breakpoint cluster region-Abelson (BCR-ABL) rearrangement or Philadelphia (Ph) chromosome in Chronic Myeloid Leukemia (CML) is derived from a reciprocal chromosomal translocation between ABL gene on chromosome 9 and BCR gene on chromosome 22. This chimeric protein has various sizes and therefore different clinical behaviour. The purpose of this study was to determine the heterogeneity of BCR-ABL rearrangement in patients with Ph(+)CML in Pakistan. The study was conducted at Civil Hospital and Baqai Institute of Hematology (BIH) Karachi. Blood samples from 25 patients with CML were collected. Multiplex reverse transcription polymerase chain reaction (RT-PCR) was performed to identify various BCR-ABL transcripts. All 25 samples showed BCR-ABL rearrangements. Out of these, 24 (96%) patients expressed p210 BCR-ABL rearrangements i.e. 60% (n=15) had b3a2 and 32% (n=8) had b2a2 rearrangements. Co-expression of b3a2 /b2a2 rearrangement and p190 (e1a3) rearrangement was also identified in two patients. It is apparent that majority of the patients had p210 BCR-ABL rearrangements. Frequency of co-expression and rare fusion transcripts was very low.

The potential of clofarabine in MLL-rearranged infant acute lymphoblastic leukaemia.

PubMed

Stumpel, Dominique J P M; Schneider, Pauline; Pieters, Rob; Stam, Ronald W

2015-09-01

MLL-rearranged acute lymphoblastic leukaemia (ALL) in infants is the most difficult-to-treat type of childhood ALL, displaying a chemotherapy-resistant phenotype, and unique histone modifications, gene expression signatures and DNA methylation patterns. MLL-rearranged infant ALL responds remarkably well to nucleoside analogue drugs in vitro, such as cytarabine and cladribine, and to the demethylating agents decitabine and zebularine as measured by cytotoxicity assays. These observations led to the inclusion of cytarabine into the treatment regimens currently used for infants with ALL. However, survival chances for infants with MLL-rearranged ALL do still not exceed 30-40%. Here we explored the in vitro potential of the novel nucleoside analogue clofarabine for MLL-rearranged infant ALL. Therefore we used both cell line models as well as primary patient cells. Compared with other nucleoside analogues, clofarabine effectively targeted primary MLL-rearranged infant ALL cells at the lowest concentrations, with median LC50 values of ∼25 nM. Interestingly, clofarabine displayed synergistic cytotoxic effects in combination with cytarabine. Furthermore, at concentrations of 5-10nM clofarabine induced demethylation of the promoter region of the tumour suppressor gene FHIT (Fragile Histidine Triad), a gene typically hypermethylated in MLL-rearranged ALL. Demethylation of the FHIT promoter region was accompanied by subtle re-expression of this gene both at the mRNA and protein level. We conclude that clofarabine is an interesting candidate for further studies in MLL-rearranged ALL in infants. Copyright © 2015 Elsevier Ltd. All rights reserved.

Influence of disorder on the photoinduced excitations in phenyl substituted polythiophenes

NASA Astrophysics Data System (ADS)

Brabec, Christoph J.; Winder, Christoph; Scharber, Markus C.; Sariciftci, N. Serdar; Hummelen, Jan C.; Svensson, Mattias; Andersson, Mats R.

2001-10-01

Regioregular poly(3-(4'-(1″,4″,7″-trioxaoctyl)phenyl)thiophenes) (PEOPTs) exhibit interesting properties for the use in polymer electronics. Exposing thin films of the amorphous, disordered phase (orange phase) of the "as prepared" polymer to chloroform vapor or annealing them by heat treatment results in a redshift of the absorption maximum due to the formation of nanocrystals in an ordered phase (blue phase). As such, PEOPT thus is a very interesting conjugated polymeric material, which exhibits two different phases with well-defined order/disorder characters on one-and-the-same material. This property opens up the unique possibility to investigate the role of order/disorder on the photoexcited pattern without being obscured by the differences in chemical structure by using different materials with different crystallinity. The fact, that blue phase PEOPT exhibits absorption edges at relatively low energies around 1.8 eV, thereby demonstrating an enhanced spectral absorption range as compared to the orange phase, makes them attractive for use in photodiodes and solar cells as well. The photoinduced charge generation efficiency in both phases of PEOPT is significantly enhanced by the addition of a strong electron acceptor such as fullerene C60, as observed by quenching of the luminescence and by photoinduced absorption measurements in the infrared and uv-visible regime. The average number and the lifetime of photoinduced carriers in composites of PEOPT with a methanofullerene [6,6]-phenyl C61-butyric acid methyl ester (PCBM) are found to depend on the crystallinity of PEOPT in thin films, which gives rise to charged photoexcitations delocalized between polymer chains. Stronger bimolecular recombination in composites of the blue phase PEOPT with PCBM is observed as compared to the orange phase PEOPT/PCBM films. The origin of this enhanced recombination is found to be related to the hole mobility of the polymer.

Chromosome rearrangements and the evolution of genome structuring and adaptability.

PubMed

Crombach, Anton; Hogeweg, Paulien

2007-05-01

Eukaryotes appear to evolve by micro and macro rearrangements. This is observed not only for long-term evolutionary adaptation, but also in short-term experimental evolution of yeast, Saccharomyces cerevisiae. Moreover, based on these and other experiments it has been postulated that repeat elements, retroposons for example, mediate such events. We study an evolutionary model in which genomes with retroposons and a breaking/repair mechanism are subjected to a changing environment. We show that retroposon-mediated rearrangements can be a beneficial mutational operator for short-term adaptations to a new environment. But simply having the ability of rearranging chromosomes does not imply an advantage over genomes in which only single-gene insertions and deletions occur. Instead, a structuring of the genome is needed: genes that need to be amplified (or deleted) in a new environment have to cluster. We show that genomes hosting retroposons, starting with a random order of genes, will in the long run become organized, which enables (fast) rearrangement-based adaptations to the environment. In other words, our model provides a "proof of principle" that genomes can structure themselves in order to increase the beneficial effect of chromosome rearrangements.

Chromosome Rearrangements That Involve the Nucleolus Organizer Region in Neurospora

PubMed Central

Perkins, D. D.; Raju, N. B.; Barry, E. G.; Butler, D. K.

1995-01-01

In ~3% of Neurospora crassa rearrangements, part of a chromosome arm becomes attached to the nucleolus organizer region (NOR) at one end of chromosome 2 (linkage group V). Investigations with one inversion and nine translocations of this type are reported here. They appear genetically to be nonreciprocal and terminal. When a rearrangement is heterozygous, about one-third of viable progeny are segmental aneuploids with the translocated segment present in two copies, one in normal position and one associated with the NOR. Duplications from many of the rearrangements are highly unstable, breaking down by loss of the NOR-attached segment to restore normal chromosome sequence. When most of the rearrangements are homozygous, attenuated strands can be seen extending through the unstained nucleolus at pachytene, joining the translocated distal segment to the remainder of chromosome 2. Although the rearrangements appear genetically to be nonreciprocal, molecular evidence shows that at least several of them are physically reciprocal, with a block of rDNA repeats translocated away from the NOR. Evidence that NOR-associated breakpoints are nonterminal is also provided by intercrosses between pairs of translocations that transfer different-length segments of the same donor-chromosome arm to the NOR. PMID:8582636

Photo-induced Low Temperature Structural Transition in the "114" YbaFe 4O 7 oxide

DOE PAGES

Duffort, V.; Caignaert, Vincent; Pralong, V.; ...

2013-11-11

Synchrotron irradiation of the oxide YBaFe 4O 7.0 below 190 K converts the low temperature monoclinic structure to a higher symmetry tetragonal form analogous to the room temperature structure. This photo-induced metastable tetragonal form is stable even in the absence of irradiation over the range 4-60 K, however, above 60 K the photo-transition is reversible. These structural phenomena are correlated to the magnetic behaviour of this system, suggesting possible spin-lattice coupling. Lastly, a scenario explaining the low temperature photo-induced transition is proposed, based on the different distributions of the valence electrons in the iron sub-lattice of the monoclinic and tetragonalmore » phases.« less

Relaxation of exciton and photoinduced dimerization in crystalline C60

NASA Astrophysics Data System (ADS)

Suzuki, Masato; Iida, Takeshi; Nasu, Keiichiro

2000-01-01

We numerically investigate the lattice relaxation of photogenerated exciton in crystalline C60 so as to clarify the mechanism of the photoinduced dimerization processes in this material. In our theory, we deal with the π electrons together with the interatomic effective potentials. Calculations are mainly based on the mean-field theory for interelectron interactions but are also reinforced by taking the electron-hole correlation into account, so that we can obtain the exciton effect. Using a cluster model, we calculate the adiabatic potential energy surfaces of the excitons relevant to the photoinduced dimerization processes occurring in a face-centered-cubic crystal of C60. The potential surfaces of the Frenkel excitons turned out to be quite uneven with several energy minimum points during the structural changes from the Franck-Condon state to the dimerized state. This leads to the conclusion that various structural defects exist at low temperatures even in the single crystal, as an intrinsic property of this molecular crystal with a complicated intermolecular interaction. From the analysis of the potential surfaces of the charge-transfer (CT) excitons, it is confirmed that the CT exciton relaxes down to its self-trapped state, wherein the adjacent two molecules get close together. This implies that the CT between adjacent two molecules is one of mechanisms that triggers the photodimerization or the photopolymerization. The oscillator strength distributions are also calculated for various intermediate structures along the lattice relaxation path. As the dimerization reaction proceeds, the oscillator strength grows in the energy region below the fundamental absorption edge, and the lowest-energy peak, originally at about 1.9 eV, finally shifts down to about 1.7 eV in the final dimerized structure. These results clarify the electronic origins of the luminescence observed in the C60 single crystal. Moreover, the origins of the photoinduced absorption spectra

Enantiomer-Selective Photo-Induced Reaction of Protonated Tryptophan with Disaccharides in the Gas Phase

NASA Astrophysics Data System (ADS)

Doan, Thuc N.; Fujihara, Akimasa

2018-03-01

In order to investigate chemical evolution in interstellar molecular clouds, enantiomer-selective photo-induced chemical reactions between an amino acid and disaccharides in the gas phase were examined using a tandem mass spectrometer containing an electrospray ionization source and a cold ion trap. Ultraviolet photodissociation mass spectra of cold gas-phase noncovalent complexes of protonated tryptophan (Trp) enantiomers with disaccharides consisting of two d-glucose units, such as d-maltose or d-cellobiose, were obtained by photoexcitation of the indole ring of Trp. NH2CHCOOH loss via cleavage of the Cα-Cβ bond in Trp induced by hydrogen atom transfer from the NH3 + group of a protonated Trp was observed in a noncovalent heterochiral H+( l-Trp)( d-maltose) complex. In contrast, a photo-induced chemical reaction forming the product ion with m/z 282 occurs in homochiral H+( d-Trp)( d-maltose). For d-cellobiose, both NH2CHCOOH elimination and the m/z 282 product ion were observed, and no enantiomer-selective phenomena occurred. The m/z 282 product ion indicates that the photo-induced C-glycosylation, which links d-glucose residues to the indole moiety of Trp via a C-C bond, can occur in cold gas-phase noncovalent complexes, and its enantiomer-selectivity depends on the structure of the disaccharide.

Distance dependence in photo-induced intramolecular electron transfer

NASA Astrophysics Data System (ADS)

Larsson, Sven; Volosov, Andrey

1986-09-01

The distance dependence of the rate of photo-induced electron transfer reactions is studied. A quantum mechanical method CNDO/S is applied to a series of molecules recently investigated by Hush et al. experimentally. The calculations show a large interaction through the saturated bridge which connects the two chromophores. The electronic matrix element HAB decreases a factor 10 in about 4 Å. There is also a decrease of the rate due to less exothermicity for the longer molecule. The results are in fair agreement with the experimental results.

Tissue cohesion and the mechanics of cell rearrangement.

PubMed

David, Robert; Luu, Olivia; Damm, Erich W; Wen, Jason W H; Nagel, Martina; Winklbauer, Rudolf

2014-10-01

Morphogenetic processes often involve the rapid rearrangement of cells held together by mutual adhesion. The dynamic nature of this adhesion endows tissues with liquid-like properties, such that large-scale shape changes appear as tissue flows. Generally, the resistance to flow (tissue viscosity) is expected to depend on the cohesion of a tissue (how strongly its cells adhere to each other), but the exact relationship between these parameters is not known. Here, we analyse the link between cohesion and viscosity to uncover basic mechanical principles of cell rearrangement. We show that for vertebrate and invertebrate tissues, viscosity varies in proportion to cohesion over a 200-fold range of values. We demonstrate that this proportionality is predicted by a cell-based model of tissue viscosity. To do so, we analyse cell adhesion in Xenopus embryonic tissues and determine a number of parameters, including tissue surface tension (as a measure of cohesion), cell contact fluctuation and cortical tension. In the tissues studied, the ratio of surface tension to viscosity, which has the dimension of a velocity, is 1.8 µm/min. This characteristic velocity reflects the rate of cell-cell boundary contraction during rearrangement, and sets a limit to rearrangement rates. Moreover, we propose that, in these tissues, cell movement is maximally efficient. Our approach to cell rearrangement mechanics links adhesion to the resistance of a tissue to plastic deformation, identifies the characteristic velocity of the process, and provides a basis for the comparison of tissues with mechanical properties that may vary by orders of magnitude. © 2014. Published by The Company of Biologists Ltd.

Deep cytoplasmic rearrangements in ventralized Xenopus embryos

NASA Technical Reports Server (NTRS)

Brown, E. E.; Denegre, J. M.; Danilchik, M. V.

1993-01-01

Following fertilization in Xenopus, dramatic rearrangements of the egg cytoplasm relocalize maternally synthesized egg components. During the first cell cycle the vegetal yolk mass rotates relative to the egg surface, toward the sperm entry point (SEP) (J. P. Vincent, G. F. Oster, and J. C. Gerhart, 1986, Dev. Biol. 113, 484-500), while concomitant deep cytoplasmic rearrangements occur in the animal hemisphere (M. V. Danilchik and J. M. Denegre, 1991, Development 111, 845-856). In this paper we examine the role of vegetal yolk mass rotation in producing the animal cytoplasmic rearrangements. We inhibited rotation by uv-irradiating embryos during the first cell cycle, a treatment that yields an extremely ventralized phenotype. Both uv-irradiated embryos and unirradiated control embryos show cytoplasmic rearrangements in the animal hemisphere during the first cell cycle. Cytoplasmic rearrangements on the SEP side of the embryo associated with the path of the sperm pronucleus, plus a swirl on the anti-SEP (dorsal) side, are seen, whether or not yolk mass rotation has occurred. This result suggests a role for the expanding sperm aster in directing animal hemisphere cytoplasmic movements. In unirradiated control embryos the anti-SEP (dorsal) swirl is larger than that in uv-irradiated embryos and often extends into the vegetal hemisphere, consistent with the animal cytoplasm having been pulled dorsally and vegetally by the sliding vegetal yolk mass. Thus the yolk mass rotation may normally enhance the dorsalward cytoplasmic movement, begun by the sperm aster, enough to induce normal axis formation. We extended our observations of unirradiated control and uv-irradiated embryos through early cleavages. The vegetal extent of the anti-SEP (dorsal) swirl pattern seen in control embryos persists through the early cleavage period, such that labeled animal cytoplasm extends deep into dorsal third-tier blastomeres at the 32-cell stage. Significantly, in uv-irradiated embryos

Dynamics of Genome Rearrangement in Bacterial Populations

PubMed Central

Darling, Aaron E.; Miklós, István; Ragan, Mark A.

2008-01-01

Genome structure variation has profound impacts on phenotype in organisms ranging from microbes to humans, yet little is known about how natural selection acts on genome arrangement. Pathogenic bacteria such as Yersinia pestis, which causes bubonic and pneumonic plague, often exhibit a high degree of genomic rearrangement. The recent availability of several Yersinia genomes offers an unprecedented opportunity to study the evolution of genome structure and arrangement. We introduce a set of statistical methods to study patterns of rearrangement in circular chromosomes and apply them to the Yersinia. We constructed a multiple alignment of eight Yersinia genomes using Mauve software to identify 78 conserved segments that are internally free from genome rearrangement. Based on the alignment, we applied Bayesian statistical methods to infer the phylogenetic inversion history of Yersinia. The sampling of genome arrangement reconstructions contains seven parsimonious tree topologies, each having different histories of 79 inversions. Topologies with a greater number of inversions also exist, but were sampled less frequently. The inversion phylogenies agree with results suggested by SNP patterns. We then analyzed reconstructed inversion histories to identify patterns of rearrangement. We confirm an over-representation of “symmetric inversions”—inversions with endpoints that are equally distant from the origin of chromosomal replication. Ancestral genome arrangements demonstrate moderate preference for replichore balance in Yersinia. We found that all inversions are shorter than expected under a neutral model, whereas inversions acting within a single replichore are much shorter than expected. We also found evidence for a canonical configuration of the origin and terminus of replication. Finally, breakpoint reuse analysis reveals that inversions with endpoints proximal to the origin of DNA replication are nearly three times more frequent. Our findings represent the

Telomerase activation by genomic rearrangements in high-risk neuroblastoma

PubMed Central

Peifer, Martin; Hertwig, Falk; Roels, Frederik; Dreidax, Daniel; Gartlgruber, Moritz; Menon, Roopika; Krämer, Andrea; Roncaioli, Justin L.; Sand, Frederik; Heuckmann, Johannes M.; Ikram, Fakhera; Schmidt, Rene; Ackermann, Sandra; Engesser, Anne; Kahlert, Yvonne; Vogel, Wenzel; Altmüller, Janine; Nürnberg, Peter; Thierry-Mieg, Jean; Thierry-Mieg, Danielle; Mariappan, Aruljothi; Heynck, Stefanie; Mariotti, Erika; Henrich, Kai-Oliver; Glöckner, Christian; Bosco, Graziella; Leuschner, Ivo; Schweiger, Michal R.; Savelyeva, Larissa; Watkins, Simon C.; Shao, Chunxuan; Bell, Emma; Höfer, Thomas; Achter, Viktor; Lang, Ulrich; Theissen, Jessica; Volland, Ruth; Saadati, Maral; Eggert, Angelika; de Wilde, Bram; Berthold, Frank; Peng, Zhiyu; Zhao, Chen; Shi, Leming; Ortmann, Monika; Büttner, Reinhard; Perner, Sven; Hero, Barbara; Schramm, Alexander; Schulte, Johannes H.; Herrmann, Carl; O’Sullivan, Roderick J.; Westermann, Frank; Thomas, Roman K.; Fischer, Matthias

2016-01-01

Neuroblastoma is a malignant paediatric tumour of the sympathetic nervous system1. Roughly half of these tumours regress spontaneously or are cured by limited therapy. By contrast, high-risk neuroblastomas have an unfavourable clinical course despite intensive multimodal treatment, and their molecular basis has remained largely elusive2–4. Here we have performed whole-genome sequencing of 56 neuroblastomas (high-risk, n = 39; low-risk, n = 17) and discovered recurrent genomic rearrangements affecting a chromosomal region at 5p15.33 proximal of the telomerase reverse transcriptase gene (TERT). These rearrangements occurred only in high-risk neuroblastomas (12/39, 31%) in a mutually exclusive fashion with MYCN amplifications and ATRX mutations, which are known genetic events in this tumour type1,2,5. In an extended case series (n = 217), TERT rearrangements defined a subgroup of high-risk tumours with particularly poor outcome. Despite a large structural diversity of these rearrangements, they all induced massive transcriptional upregulation of TERT. In the remaining high-risk tumours, TERT expression was also elevated in MYCN-amplified tumours, whereas alternative lengthening of telomeres was present in neuroblastomas without TERT or MYCN alterations, suggesting that telomere lengthening represents a central mechanism defining this subtype. The 5p15.33 rearrangements juxtapose the TERT coding sequence to strong enhancer elements, resulting in massive chromatin remodelling and DNA methylation of the affected region. Supporting a functional role of TERT, neuroblastoma cell lines bearing rearrangements or amplified MYCN exhibited both upregulated TERT expression and enzymatic telomerase activity. In summary, our findings show that remodelling of the genomic context abrogates transcriptional silencing of TERT in high-risk neuroblastoma and places telomerase activation in the centre of transformation in a large fraction of these tumours. PMID:26466568

Excitonic mechanism of the photoinduced surface restructuring of copper

DOE Office of Scientific and Technical Information (OSTI.GOV)

Molotskii, Michel

An explanation for the photoinduced reconstruction of Cu single-crystal surfaces that was observed by Ernst et al. [Science 279, 679 (1998)] under the influence of visible light is proposed. It is suggested that reconstruction can be attributed to the energy released during the nonradiative decay of excitons that were excited by light irradiation and captured on surface active centers. The estimates performed show that exciton decay on surface steps and adatoms releases enough energy to create surface defects.

Chromosome rearrangements via template switching between diverged repeated sequences

PubMed Central

Anand, Ranjith P.; Tsaponina, Olga; Greenwell, Patricia W.; Lee, Cheng-Sheng; Du, Wei; Petes, Thomas D.

2014-01-01

Recent high-resolution genome analyses of cancer and other diseases have revealed the occurrence of microhomology-mediated chromosome rearrangements and copy number changes. Although some of these rearrangements appear to involve nonhomologous end-joining, many must have involved mechanisms requiring new DNA synthesis. Models such as microhomology-mediated break-induced replication (MM-BIR) have been invoked to explain these rearrangements. We examined BIR and template switching between highly diverged sequences in Saccharomyces cerevisiae, induced during repair of a site-specific double-strand break (DSB). Our data show that such template switches are robust mechanisms that give rise to complex rearrangements. Template switches between highly divergent sequences appear to be mechanistically distinct from the initial strand invasions that establish BIR. In particular, such jumps are less constrained by sequence divergence and exhibit a different pattern of microhomology junctions. BIR traversing repeated DNA sequences frequently results in complex translocations analogous to those seen in mammalian cells. These results suggest that template switching among repeated genes is a potent driver of genome instability and evolution. PMID:25367035

EFFECT OF IRRADIANCE SPECTRA ON THE PHOTOINDUCED TOXICITY OF THREE POLYCYCLIC AROMATIC HYDROCARBONS

EPA Science Inventory

Photoinduced toxicity of polycyclic aromatic hydrocarbons (PAHs) is dependent on the concentration of compounds present and the dose of light received. Of the light present, only those wavelengths absorbed by the compound have the potential to initiate the photochemical events un...

Distance dependence in photoinduced intramolecular electron transfer. Additional remarks and calculations

NASA Astrophysics Data System (ADS)

Larsson, Sven; Volosov, Andrey

1987-12-01

Rate constants for photoinduced intramolecular electron transfer are calculated for four of the molecules studied by Hush et al. The electronic factor is obtained in quantum chemical calculations using the CNDO/S method. The results agree reasonably well with experiments for the forward reaction. Possible reasons for the disagreement for the charge recombination process are offered.

Heterogeneity of BCR-ABL rearrangement in patients with chronic myeloid leukemia in Pakistan

PubMed Central

Tabassum, Najia; Saboor, Mohammad; Ghani, Rubina; Moinuddin, Moinuddin

2014-01-01

Background and Objective: Breakpoint cluster region-Abelson (BCR-ABL) rearrangement or Philadelphia (Ph) chromosome in Chronic Myeloid Leukemia (CML) is derived from a reciprocal chromosomal translocation between ABL gene on chromosome 9 and BCR gene on chromosome 22. This chimeric protein has various sizes and therefore different clinical behaviour. The purpose of this study was to determine the heterogeneity of BCR-ABL rearrangement in patients with Ph+CML in Pakistan. Methods: The study was conducted at Civil Hospital and Baqai Institute of Hematology (BIH) Karachi. Blood samples from 25 patients with CML were collected. Multiplex reverse transcription polymerase chain reaction (RT-PCR) was performed to identify various BCR-ABL transcripts. Results: All 25 samples showed BCR-ABL rearrangements. Out of these, 24 (96%) patients expressed p210 BCR-ABL rearrangements i.e. 60% (n=15) had b3a2 and 32% (n=8) had b2a2 rearrangements. Co-expression of b3a2 /b2a2 rearrangement and p190 (e1a3) rearrangement was also identified in two patients. Conclusion: It is apparent that majority of the patients had p210 BCR-ABL rearrangements. Frequency of co-expression and rare fusion transcripts was very low. PMID:25097530

Photoinduced Field-Effect Passivation from Negative Carrier Accumulation for High-Efficiency Silicon/Organic Heterojunction Solar Cells.

PubMed

Liu, Zhaolang; Yang, Zhenhai; Wu, Sudong; Zhu, Juye; Guo, Wei; Sheng, Jiang; Ye, Jichun; Cui, Yi

2017-12-26

Carrier recombination and light management of the dopant-free silicon/organic heterojunction solar cells (HSCs) based on poly(3,4-ethylenedioxythiophene):poly(styrenesulfonate) (PEDOT:PSS) are the critical factors in developing high-efficiency photovoltaic devices. However, the traditional passivation technologies can hardly provide efficient surface passivation on the front surface of Si. In this study, a photoinduced electric field was induced in a bilayer antireflective coating (ARC) of polydimethylsiloxane (PDMS) and titanium oxide (TiO 2 ) films, due to formation of an accumulation layer of negative carriers (O 2 - species) under UV (sunlight) illumination. This photoinduced field not only suppressed the silicon surface recombination but also enhanced the built-in potential of HSCs with 84 mV increment. In addition, this photoactive ARC also displayed the outstanding light-trapping capability. The front PEDOT:PSS/Si HSC with the saturated O 2 - received a champion PCE of 15.51% under AM 1.5 simulated sunlight illumination. It was clearly demonstrated that the photoinduced electric field was a simple, efficient, and low-cost method for the surface passivation and contributed to achieve a high efficiency when applied in the Si/PEDOT:PSS HSCs.

Precise control of photoinduced birefringence in azobenzene-containing liquid-crystalline polymers by post functionalization.

PubMed

Yu, Haifeng; Kobayashi, Takaomi; Ge, Ziyi

2009-10-19

A series of functionalized liquid-crystalline polymer materials with different degrees of functionality was synthesized by a post Sonogashira cross-coupling reaction of a polymer precursor. The post-functionalization was carried out under mild conditions and showed a high yield. Although a highly birefringent azotolane group was introduced into the polymer precursor, the photoresponse of the functionalized liquid-crystalline materials was not obviously changed. By adjusting the content of azotolane groups, precise control of the photoinduced birefringence was successfully obtained after thermal enhancement upon annealing. The present method to gain precise control of photoinduced birefringence might enable one to finely photocontrol the optical performances of materials, and may have a potential application as an advanced process for photonic materials. Copyright © 2009 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Comparison of the accuracy of three algorithms in predicting accessory pathways among adult Wolff-Parkinson-White syndrome patients.

PubMed

Maden, Orhan; Balci, Kevser Gülcihan; Selcuk, Mehmet Timur; Balci, Mustafa Mücahit; Açar, Burak; Unal, Sefa; Kara, Meryem; Selcuk, Hatice

2015-12-01

The aim of this study was to investigate the accuracy of three algorithms in predicting accessory pathway locations in adult patients with Wolff-Parkinson-White syndrome in Turkish population. A total of 207 adult patients with Wolff-Parkinson-White syndrome were retrospectively analyzed. The most preexcited 12-lead electrocardiogram in sinus rhythm was used for analysis. Two investigators blinded to the patient data used three algorithms for prediction of accessory pathway location. Among all locations, 48.5% were left-sided, 44% were right-sided, and 7.5% were located in the midseptum or anteroseptum. When only exact locations were accepted as match, predictive accuracy for Chiang was 71.5%, 72.4% for d'Avila, and 71.5% for Arruda. The percentage of predictive accuracy of all algorithms did not differ between the algorithms (p = 1.000; p = 0.875; p = 0.885, respectively). The best algorithm for prediction of right-sided, left-sided, and anteroseptal and midseptal accessory pathways was Arruda (p < 0.001). Arruda was significantly better than d'Avila in predicting adjacent sites (p = 0.035) and the percent of the contralateral site prediction was higher with d'Avila than Arruda (p = 0.013). All algorithms were similar in predicting accessory pathway location and the predicted accuracy was lower than previously reported by their authors. However, according to the accessory pathway site, the algorithm designed by Arruda et al. showed better predictions than the other algorithms and using this algorithm may provide advantages before a planned ablation.

Wolff-Parkinson-White syndrome type B and left bundle-branch block: electrophysiologic and radionuclide study

DOE Office of Scientific and Technical Information (OSTI.GOV)

Rakovec, P.; Kranjec, I.; Fettich, J.J.

1985-01-01

Coinciding left bundle-branch block and Wolff-Parkinson-White syndrome type B, a very rare electrocardiographic occurrence, was found in a patient with dilated cardiomyopathy. Electrophysiologic study revealed eccentric retrograde atrial activation during ventricular pacing, suggesting right-sided accessory pathway. At programmed atrial pacing, effective refractory period of the accessory pathway was 310 ms; at shorter pacing coupling intervals, normal atrioventricular conduction with left bundle-branch block was seen. Left bundle-branch block was seen also with His bundle pacing. Radionuclide phase imaging demonstrated right ventricular phase advance and left ventricular phase delay; both right and left ventricular phase images revealed broad phase distribution histograms. Combinedmore » electrophysiologic and radionuclide investigations are useful to disclose complex conduction abnormalities and their mechanical correlates.« less

Detection of Gene Rearrangements in Circulating Tumor Cells: Examples of ALK-, ROS1-, RET-Rearrangements in Non-Small-Cell Lung Cancer and ERG-Rearrangements in Prostate Cancer.

PubMed

Catelain, Cyril; Pailler, Emma; Oulhen, Marianne; Faugeroux, Vincent; Pommier, Anne-Laure; Farace, Françoise

2017-01-01

Circulating tumor cells (CTCs) hold promise as biomarkers to aid in patient treatment stratification and disease monitoring. Because the number of cells is a critical parameter for exploiting CTCs for predictive biomarker's detection, we developed a FISH (fluorescent in situ hybridization) method for CTCs enriched on filters (filter-adapted FISH [FA-FISH]) that was optimized for high cell recovery. To increase the feasibility and reliability of the analyses, we combined fluorescent staining and FA-FISH and developed a semi-automated microscopy method for optimal FISH signal identification in filtration-enriched CTCs . Here we present these methods and their use for the detection and characterization of ALK-, ROS1-, RET-rearrangement in CTCs from non-small-cell lung cancer and ERG-rearrangements in CTCs from prostate cancer patients.

Ventricular fibrillation development following atrial fibrillation after the ingestion of sildenaphil in a patient with Wolff-Parkinson-White syndrome

PubMed Central

Inci, Sinan; Izgu, Ibrahim; Aktas, Halil; Dogan, Pinar; Dogan, Ali

2015-01-01

Summary Complications in the accessory pathway in Wolff-Parkinson-White (WPW) syndrome could cause different clinical conditions by inducing different arrhythmias. Atrial fibrillation (AF) is one of these arrhythmias and is important as it causes life-threatening arrhythmias. It is known that some drugs, underlying cardiac diseases, and the number of accessory pathways, cause a predisposition to this condition. In the current report, we presented a patient with WPW who was admitted to the emergency department with AF, wide QRS and a rapid ventricular response that progressed to ventricular fibrillation. PMID:26361569

Ventricular fibrillation development following atrial fibrillation after the ingestion of sildenaphil in a patient with Wolff-Parkinson-White syndrome.

PubMed

Inci, Sinan; Izgu, Ibrahim; Aktas, Halil; Dogan, Pinar; Dogan, Ali

2015-08-01

Complications in the accessory pathway in Wolff-Parkinson-White (WPW) syndrome could cause different clinical conditions by inducing different arrhythmias. Atrial fibrillation (AF) is one of these arrhythmias and is important as it causes life-threatening arrhythmias. It is known that some drugs, underlying cardiac diseases, and the number of accessory pathways, cause a predisposition to this condition. In the current report, we presented a patient with WPW who was admitted to the emergency department with AF, wide QRS and a rapid ventricular response that progressed to ventricular fibrillation.

Comparing genomes with rearrangements and segmental duplications.

PubMed

Shao, Mingfu; Moret, Bernard M E

2015-06-15

Large-scale evolutionary events such as genomic rearrange.ments and segmental duplications form an important part of the evolution of genomes and are widely studied from both biological and computational perspectives. A basic computational problem is to infer these events in the evolutionary history for given modern genomes, a task for which many algorithms have been proposed under various constraints. Algorithms that can handle both rearrangements and content-modifying events such as duplications and losses remain few and limited in their applicability. We study the comparison of two genomes under a model including general rearrangements (through double-cut-and-join) and segmental duplications. We formulate the comparison as an optimization problem and describe an exact algorithm to solve it by using an integer linear program. We also devise a sufficient condition and an efficient algorithm to identify optimal substructures, which can simplify the problem while preserving optimality. Using the optimal substructures with the integer linear program (ILP) formulation yields a practical and exact algorithm to solve the problem. We then apply our algorithm to assign in-paralogs and orthologs (a necessary step in handling duplications) and compare its performance with that of the state-of-the-art method MSOAR, using both simulations and real data. On simulated datasets, our method outperforms MSOAR by a significant margin, and on five well-annotated species, MSOAR achieves high accuracy, yet our method performs slightly better on each of the 10 pairwise comparisons. http://lcbb.epfl.ch/softwares/coser. © The Author 2015. Published by Oxford University Press.

A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons

PubMed Central

Capozzi, Oronzo; Carbone, Lucia; Stanyon, Roscoe R.; Marra, Annamaria; Yang, Fengtang; Whelan, Christopher W.; de Jong, Pieter J.; Rocchi, Mariano; Archidiacono, Nicoletta

2012-01-01

Chromosome rearrangements in small apes are up to 20 times more frequent than in most mammals. Because of their complexity, the full extent of chromosome evolution in these hominoids is not yet fully documented. However, previous work with array painting, BAC-FISH, and selective sequencing in two of the four karyomorphs has shown that high-resolution methods can precisely define chromosome breakpoints and map the complex flow of evolutionary chromosome rearrangements. Here we use these tools to precisely define the rearrangements that have occurred in the remaining two karyomorphs, genera Symphalangus (2n = 50) and Hoolock (2n = 38). This research provides the most comprehensive insight into the evolutionary origins of chromosome rearrangements involved in transforming small apes genome. Bioinformatics analyses of the human–gibbon synteny breakpoints revealed association with transposable elements and segmental duplications, providing some insight into the mechanisms that might have promoted rearrangements in small apes. In the near future, the comparison of gibbon genome sequences will provide novel insights to test hypotheses concerning the mechanisms of chromosome evolution. The precise definition of synteny block boundaries and orientation, chromosomal fusions, and centromere repositioning events presented here will facilitate genome sequence assembly for these close relatives of humans. PMID:22892276

Malignant arrhythmia as the first manifestation of Wolff-Parkinson-White syndrome: a case with minimal preexcitation on electrocardiography.

PubMed

Gungor, B; Alper, A T

2013-09-01

Wolff-Parkinson-White (WPW) syndrome is defined as the presence of an accessory atrioventricular pathway which is manifested as delta waves and short PR interval on electrocardiography (ECG). However, some WPW cases do not have typical findings on ECG and may remain undiagnosed unless palpitations occur. Sudden cardiac death may be the first manifestation of WPW and develops mostly secondary to degeneration of atrial fibrillation into ventricular fibrillation. In this report, we present a case of undiagnosed WPW with minimal preexcitation on ECG and who suffered an episode of malignant arrhythmia as the first manifestation of the disease.

Tyrosine kinase gene rearrangements in epithelial malignancies

PubMed Central

Shaw, Alice T.; Hsu, Peggy P.; Awad, Mark M.; Engelman, Jeffrey A.

2014-01-01

Chromosomal rearrangements that lead to oncogenic kinase activation are observed in many epithelial cancers. These cancers express activated fusion kinases that drive the initiation and progression of malignancy, and often have a considerable response to small-molecule kinase inhibitors, which validates these fusion kinases as ‘druggable’ targets. In this Review, we examine the aetiologic, pathogenic and clinical features that are associated with cancers harbouring oncogenic fusion kinases, including anaplastic lymphoma kinase (ALK), ROS1 and RET. We discuss the clinical outcomes with targeted therapies and explore strategies to discover additional kinases that are activated by chromosomal rearrangements in solid tumours. PMID:24132104

Photo-responsive polymeric micelles.

PubMed

Huang, Yu; Dong, Ruijiao; Zhu, Xinyuan; Yan, Deyue

2014-09-07

Photo-responsive polymeric micelles have received increasing attention in both academic and industrial fields due to their efficient photo-sensitive nature and unique nanostructure. In view of the photo-reaction mechanism, photo-responsive polymeric micelles can be divided into five major types: (1) photoisomerization polymeric micelles, (2) photo-induced rearrangement polymeric micelles, (3) photocleavage polymeric micelles, (4) photo-induced crosslinkable polymeric micelles, and (5) photo-induced energy conversion polymeric micelles. This review highlights the recent advances of photo-responsive polymeric micelles, including the design, synthesis and applications in various biomedical fields. Especially, the influence of different photo-reaction mechanisms on the morphology, structure and properties of the polymeric micelles is emphasized. Finally, the possible future directions and perspectives in this emerging area are briefly discussed.

Synthesis of Methyl Cyclopentanecarboxylate: A Laboratory Experience in Carbon Rearrangement

ERIC Educational Resources Information Center

Orchard, Alexandra; Maniquis, Roxanne V.; Salzameda, Nicholas T.

2016-01-01

We present a novel guided inquiry second semester organic chemistry laboratory rearrangement experiment. Students performed the Favorskii Rearrangement to obtain methyl cyclopentanecarboxylate in good yields. The students learned about the individual steps of the Favorskii mechanism and were required to propose a complete reaction mechanism and…

Advanced lung adenocarcinomas with ROS1-rearrangement frequently show hepatoid cell

PubMed Central

Kong, Mei; Zhou, Jianya; Ding, Wei; Zhou, Jianying

2016-01-01

Defining distinctive histologic characteristics of ROS1-rearranged non-small-cell lung carcinomas (NSCLCs) may help identify cases that merit molecular testing. However, the majority of previous reports have focused on surgical specimens but only limited studies assessed histomorphology of advanced NSCLCs. In order to identify the clinical and histological characteristics of ROS1-rearranged advanced NSCLCs, we examined five hundred sixteen Chinese patients with advanced NSCLCs using ROS1 fluorescence in situ hybridization and real-time polymerase chain reaction and then analyzed for clinical and pathological features. We performed univariate and multivariate analyses to identify predictive factors associated with ROS1 rearrangement. 19 tumors were identified with ROS1 rearrangement (3.7% of adenocarcinomas). 16 ROS1+ and 122 ROS1- samples with available medical records and enough tumor cells were included for histological analysis. Compared with ROS1-negative advanced NSCLCs, ROS1-rearranged advanced NSCLCs were associated with a younger age at presentation. ROS1 rearrangements were not significantly associated with sex, smoking history, drinking history and metastatic sites. The most common histological pattern was solid growth (12/16), followed by acinar (4/16) growth. 66.7% cases with solid growth pattern showed hepatoid cytology (8/12) and 75% cases with acinar growth pattern showed a cribriform structure (3/4). 18.8% cases were found to have abundant extracellular mucus or signet-ring cells (3/16). Only one case with solid growth pattern showed psammomatous calcifications. In conclusion, age, hepatoid cytology and cribriform structure are the independent predictors for ROS1-rearranged advanced NSCLCs, recognizing these may be helpful in finding candidates for genomic alterations, especially when available tissue samples are limited. PMID:27708233

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

PubMed

Kloosterman, Wigard P; Tavakoli-Yaraki, Masoumeh; van Roosmalen, Markus J; van Binsbergen, Ellen; Renkens, Ivo; Duran, Karen; Ballarati, Lucia; Vergult, Sarah; Giardino, Daniela; Hansson, Kerstin; Ruivenkamp, Claudia A L; Jager, Myrthe; van Haeringen, Arie; Ippel, Elly F; Haaf, Thomas; Passarge, Eberhard; Hochstenbach, Ron; Menten, Björn; Larizza, Lidia; Guryev, Victor; Poot, Martin; Cuppen, Edwin

2012-06-28

Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes. In addition, nucleotide resolution analysis of 98 breakpoint junctions indicates that break repair involves nonhomologous or microhomology-mediated end joining. We observed that these eight rearrangements are balanced or contain sporadic deletions ranging in size between a few hundred base pairs and several megabases. The two remaining complex rearrangements did not display signs of DSBs and contain duplications, indicative of rearrangement processes involving template switching. Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements. Copyright © 2012 The Authors. Published by Elsevier Inc. All rights reserved.

Model of photoinduced structural change induced by THz pulse irradiation

NASA Astrophysics Data System (ADS)

Ishida, Kunio; Nasu, Keiichiro

Recently intense optical pulses with THz frequency have been obtained, and it is of interest to study the effect of irradiated THz pulses on electronic systems. We theoretically study the photoinduced cooperative dynamics triggered by irradiation of THz pulses. We employed a model of two-level localized electrons coupled with an optical phonon mode taking into account the nonadiabaticity of the electron dynamics, and solved the time-dependent Schrödinger equation numerically. We consider the cases in which the THz pulses create phonons near the surface of the system, and pursue the electronic transitions induced by the propagation of the phonons. We found that they are able to induce excited-state domain growth, and that the interference between them plays an important role in the growth dynamics. Hence, the domain growth is affected by the geometry of the surface of the system, which is different from the photoinduced structural change by visible/UV pulses. We also show that the nonadiabatic/adiabatic electronic transitions should be taken into account though the domain growth mainly proceeds on the ground-state potential energy surfaces(PESs). In other words, the energy level/structure of excited-state PESs are relevant to the domain-growth dynamics.

Carbanion-Accelerated Claisen Rearrangements Asymmetric Induction with Chiral Phosphorus-Stabilized Anions‡

PubMed Central

Denmark, Scott E.; Marlin, John E.; Rajendra, G.

2012-01-01

The carbanion-accelerated Claisen rearrangement has been extended to include phosphorus carbanion-stabilizing groups. The appropriately substituted allyl vinyl ethers are synthesized by the nucleophilic addition of allyloxides to phosphorus-substituted allenes, which are obtained in one step from simple starting materials. The phosphorus-stabilized, carbanion-accelerated Claisen rearrangements proceed rapidly at room temperature in high yield, and the rearrangements are highly site and stereoselective. The first examples of asymmetric induction in the Claisen rearrangement with chiral, phosphorus, anion-stabilizing groups are described. The observed asymmetric induction is highly dependent on the structure of the auxiliary and the metal counterion involved. Both internal and relative diastereoselectivity are high. A model for the observed sense of internal diastereoselectivity is proposed that is founded in the current understanding of the structure of phosphorus-stabilized anions. PMID:23101563

10 CFR 110.124 - Rearrangement or suspension of a hearing.

Code of Federal Regulations, 2011 CFR

2011-01-01

... 10 Energy 2 2011-01-01 2011-01-01 false Rearrangement or suspension of a hearing. 110.124 Section 110.124 Energy NUCLEAR REGULATORY COMMISSION (CONTINUED) EXPORT AND IMPORT OF NUCLEAR EQUIPMENT AND MATERIAL Special Procedures for Classified Information in Hearings § 110.124 Rearrangement or suspension of...

10 CFR 110.124 - Rearrangement or suspension of a hearing.

Code of Federal Regulations, 2010 CFR

2010-01-01

... 10 Energy 2 2010-01-01 2010-01-01 false Rearrangement or suspension of a hearing. 110.124 Section 110.124 Energy NUCLEAR REGULATORY COMMISSION (CONTINUED) EXPORT AND IMPORT OF NUCLEAR EQUIPMENT AND MATERIAL Special Procedures for Classified Information in Hearings § 110.124 Rearrangement or suspension of...

ALK-rearranged pulmonary adenocarcinoma in Thai Patients: From diagnosis to treatment efficacy.

PubMed

Incharoen, Pimpin; Reungwetwattana, Thanyanan; Saowapa, Sakditad; Kamprerasart, Kaettipong; Pangpunyakulchai, Duangjai; Arsa, Lalida; Jinawath, Artit

2016-05-03

Anaplastic lymphoma kinase (ALK) gene rearrangement is detected in 3% to 13% of non-small cell lung carcinoma patients, and these patients benefit from ALK inhibitors. The aim of this study was to determine the prevalence, the clinical and histological characteristics and the treatment outcomes of ALK-rearranged lung adenocarcinoma using immunohistochemistry (IHC) IHC, reverse transcription polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH) methodologies. A total of 268 pulmonary adenocarcinoma patients were screened for ALK expression by ALK IHC, which was confirmed by FISH and/or RT-PCR for ALK gene rearrangement. The treatment outcomes of ALK-rearranged patients were retrospectively reviewed. ALK gene rearrangement was identified in 26 cases (9.7%) with no EGFR co-mutation, and it showed significant associations with younger age, female sex and non-smoker status (p < 0.05). A cribriform growth pattern was identified as the dominant histologic feature, and a solid signet ring cell component was focally present in a minority of the cases. Among 12 ALK-rearranged patients with conventional treatment, seven cases in the early stage of disease were cured and alive, and five patients in the late stage of the disease progressed and died, with a median overall survival (OS) at 14 months. Of the 14 patients receiving crizotinib, all of them had clinical benefit from crizotinib treatment, with one patient having a complete response (CR), 12 patients having a partial response (PR) and one patient having stable disease (SD). On the cutoff date, six of 14 patients were continuing crizotinib treatment with a median time of response of 7.5 (3-13) months, while eight patients had disease progression, and five of them died with a median OS at 8 months. ALK gene rearrangement tended to occur in younger, non-smoking, female patients. ALK IHC is a reliable screening method to detect ALK gene rearrangement. Crizotinib therapy provided treatment benefit

A Prediction Model for ROS1-Rearranged Lung Adenocarcinomas based on Histologic Features

PubMed Central

Zheng, Jing; Kong, Mei; Sun, Ke; Wang, Bo; Chen, Xi; Ding, Wei; Zhou, Jianying

2016-01-01

Aims To identify the clinical and histological characteristics of ROS1-rearranged non-small-cell lung carcinomas (NSCLCs) and build a prediction model to prescreen suitable patients for molecular testing. Methods and Results We identified 27 cases of ROS1-rearranged lung adenocarcinomas in 1165 patients with NSCLCs confirmed by real-time PCR and FISH and performed univariate and multivariate analyses to identify predictive factors associated with ROS1 rearrangement and finally developed prediction model. Detected with ROS1 immunochemistry, 59 cases of 1165 patients had a certain degree of ROS1 expression. Among these cases, 19 cases (68%, 19/28) with 3+ and 8 cases (47%, 8/17) with 2+ staining were ROS1 rearrangement verified by real-time PCR and FISH. In the resected group, the acinar-predominant growth pattern was the most commonly observed (57%, 8/14), while in the biopsy group, solid patterns were the most frequently observed (78%, 7/13). Based on multiple logistic regression analysis, we determined that female sex, cribriform structure and the presence of psammoma body were the three most powerful indicators of ROS1 rearrangement, and we have developed a predictive model for the presence of ROS1 rearrangements in lung adenocarcinomas. Conclusions Female, cribriform structure and presence of psammoma body were the three most powerful indicator of ROS1 rearrangement status, and predictive formula was helpful in screening ROS1-rearranged NSCLC, especially for ROS1 immunochemistry equivocal cases. PMID:27648828

A Prediction Model for ROS1-Rearranged Lung Adenocarcinomas based on Histologic Features.

PubMed

Zhou, Jianya; Zhao, Jing; Zheng, Jing; Kong, Mei; Sun, Ke; Wang, Bo; Chen, Xi; Ding, Wei; Zhou, Jianying

2016-01-01

To identify the clinical and histological characteristics of ROS1-rearranged non-small-cell lung carcinomas (NSCLCs) and build a prediction model to prescreen suitable patients for molecular testing. We identified 27 cases of ROS1-rearranged lung adenocarcinomas in 1165 patients with NSCLCs confirmed by real-time PCR and FISH and performed univariate and multivariate analyses to identify predictive factors associated with ROS1 rearrangement and finally developed prediction model. Detected with ROS1 immunochemistry, 59 cases of 1165 patients had a certain degree of ROS1 expression. Among these cases, 19 cases (68%, 19/28) with 3+ and 8 cases (47%, 8/17) with 2+ staining were ROS1 rearrangement verified by real-time PCR and FISH. In the resected group, the acinar-predominant growth pattern was the most commonly observed (57%, 8/14), while in the biopsy group, solid patterns were the most frequently observed (78%, 7/13). Based on multiple logistic regression analysis, we determined that female sex, cribriform structure and the presence of psammoma body were the three most powerful indicators of ROS1 rearrangement, and we have developed a predictive model for the presence of ROS1 rearrangements in lung adenocarcinomas. Female, cribriform structure and presence of psammoma body were the three most powerful indicator of ROS1 rearrangement status, and predictive formula was helpful in screening ROS1-rearranged NSCLC, especially for ROS1 immunochemistry equivocal cases.

Effects of photoinduced toxicity of fluoranthene on amphibian embryos and larvae

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hatch, A.C.; Burton, G.A. Jr.

1998-09-01

Embryos and newly hatched larvae of three amphibian species, the spotted salamander (Ambystoma maculatum), the northern leopard frog (Rana pipiens), and the African clawed frog (Xenopus laevis), were exposed to fluoranthene and ultraviolet (UV) light in two scenarios. Embryos were exposed in a laboratory setting from an early developmental stage through hatching under artificial UV light, and newly hatched larvae were exposed outdoors in varying sunlight intensity levels. Outdoor exposures indicated greater sensitivity in the toxic response than did laboratory exposures. In the laboratory, mortality and malformation of X. laevis were the most sensitive indicators of exposure. Xenopus laevis wasmore » also the most sensitive species tested to the effects of UV light alone. Hatching success of R. pipiens was monitored outdoors and was not a useful predictive endpoint in the determination of photoinduced toxicity; however, newly hatched larvae were sensitive to the effects of photoinduced toxicity. Amybstoma maculatum and X. laevis larvae were affected by low ({micro}g/L) concentrations of fluoranthene in sunlight. These findings suggest that low levels of polycyclic aromatic hydrocarbons could be acting synergistically with environmental factors such as UV light to place young amphibians at risk.« less

Photoinduced oxidation of a water-soluble manganese(III) porphyrin

PubMed Central

Maliyackel, Anthony C.; Otvos, John W.; Spreer, Larry O.; Calvin, Melvin

1986-01-01

The photoinduced oxidation of tetra(N-methyl-4-pyridyl)porphyrinmanganese(III) has been achieved in homogeneous solution. The manganese porphyrin was used as an electron donor in a three-component system with tris-(2,2′-bipyridine)ruthenium(II) as the photosensitizer and chloropentaamminecobalt(III) as the electron acceptor. The photooxidized manganese porphyrin is unstable in aqueous solution, reverting to the starting manganese(III) porphyrin. The oxidation of manganese(III) porphyrin and the subsequent reduction of the oxidized porphyrin can be cycled repeatedly. PMID:16593699

Photoinduced Oxidative DNA Damage Revealed by an Agarose Gel Nicking Assay: A Biophysical Chemistry Laboratory Experiment

NASA Astrophysics Data System (ADS)

Shafirovich, Vladimir; Singh, Carolyn; Geacintov, Nicholas E.

2003-11-01

Oxidative damage of DNA molecules associated with electron-transfer reactions is an important phenomenon in living cells, which can lead to mutations and contribute to carcinogenesis and the aging processes. This article describes the design of several simple experiments to explore DNA damage initiated by photoinduced electron-transfer reactions sensitized by the acridine derivative, proflavine (PF). A supercoiled DNA agarose gel nicking assay is employed as a sensitive probe of DNA strand cleavage. A low-cost experimental and computer-interfaced imaging apparatus is described allowing for the digital recording and analysis of the gel electrophoresis results. The first experiment describes the formation of direct strand breaks in double-stranded DNA induced by photoexcitation of the intercalated PF molecules. The second experiment demonstrates that the addition of the well-known electron acceptor, methylviologen, gives rise to a significant enhancement of the photochemical DNA strand cleavage effect. This occurs by an electron transfer step to methylviologen that renders the inital photoinduced charge separation between photoexcited PF and DNA irreversible. The third experiment demonstrates that the action spectrum of the DNA photocleavage matches the absorption spectrum of DNA-bound, intercalated PF molecules, which differs from that of free PF molecules. This result demonstrates that the photoinduced DNA strand cleavage is initiated by intercalated rather than free PF molecules.

Contribution of canonical nonhomologous end joining to chromosomal rearrangements is enhanced by ATM kinase deficiency.

PubMed

Bhargava, Ragini; Carson, Caree R; Lee, Gabriella; Stark, Jeremy M

2017-01-24

A likely mechanism of chromosomal rearrangement formation involves joining the ends from two different chromosomal double-strand breaks (DSBs). These events could potentially be mediated by either of two end-joining (EJ) repair pathways [canonical nonhomologous end joining (C-NHEJ) or alternative end joining (ALT-EJ)], which cause distinct rearrangement junction patterns. The relative role of these EJ pathways during rearrangement formation has remained controversial. Along these lines, we have tested whether the DNA damage response mediated by the Ataxia Telangiectasia Mutated (ATM) kinase may affect the relative influence of C-NHEJ vs. ALT-EJ on rearrangement formation. We developed a reporter in mouse cells for a 0.4-Mbp deletion rearrangement that is formed by EJ between two DSBs induced by the Cas9 endonuclease. We found that disruption of the ATM kinase causes an increase in the frequency of the rearrangement as well as a shift toward rearrangement junctions that show hallmarks of C-NHEJ. Furthermore, ATM suppresses rearrangement formation in an experimental condition, in which C-NHEJ is the predominant EJ repair event (i.e., expression of the 3' exonuclease Trex2). Finally, several C-NHEJ factors are required for the increase in rearrangement frequency caused by inhibition of the ATM kinase. We also examined ATM effectors and found that H2AX shows a similar influence as ATM, whereas the influence of ATM on this rearrangement seems independent of 53BP1. We suggest that the contribution of the C-NHEJ pathway to the formation of a 0.4-Mbp deletion rearrangement is enhanced in ATM-deficient cells.

Marsupials as models for understanding the role of chromosome rearrangements in evolution and disease.

PubMed

Deakin, Janine E; Kruger-Andrzejewska, Maya

2016-09-01

Chromosome rearrangements have been implicated in diseases, such as cancer, and speciation, but it remains unclear whether rearrangements are causal or merely a consequence of these processes. Two marsupial families with very different rates of karyotype evolution provide excellent models in which to study the role of chromosome rearrangements in a disease and evolutionary context. The speciose family Dasyuridae displays remarkable karyotypic conservation, with all species examined to date possessing nearly identical karyotypes. Despite the seemingly high degree of chromosome stability within this family, they appear prone to developing tumours, including transmissible devil facial tumours. In contrast, chromosome rearrangements have been frequent in the evolution of the species-rich family Macropodidae, which displays a high level of karyotypic diversity. In particular, the genus Petrogale (rock-wallabies) displays an extraordinary level of chromosome rearrangement among species. For six parapatric Petrogale species, it appears that speciation has essentially been caught in the act, providing an opportunity to determine whether chromosomal rearrangements are a cause or consequence of speciation in this system. This review highlights the reasons that these two marsupial families are excellent models for testing hypotheses for hotspots of chromosome rearrangement and deciphering the role of chromosome rearrangements in disease and speciation.

Luminescence and photoinduced absorption in ytterbium-doped optical fibres

DOE Office of Scientific and Technical Information (OSTI.GOV)

Rybaltovsky, A A; Aleshkina, S S; Likhachev, M E

2011-12-31

Photochemical reactions induced in the glass network of an ytterbium-doped fibre core by IR laser pumping and UV irradiation have been investigated by analysing absorption and luminescence spectra. We have performed comparative studies of the photoinduced absorption and luminescence spectra of fibre preforms differing in core glass composition: Al{sub 2}O{sub 3} : SiO{sub 2}, Al{sub 2}O{sub 3} : Yb{sub 2}O{sub 3} : SiO{sub 2}, and P{sub 2}O{sub 5} : Yb{sub 2}O{sub 3} : SiO{sub 2}. The UV absorption spectra of unirradiated preform core samples show strong bands peaking at 5.1 and 6.5 eV, whose excitation plays a key role inmore » photoinduced colour centre generation in the glass network. 'Direct' UV excitation of the 5.1- and 6.5-eV absorption bands at 244 and 193 nm leads to the reduction of some of the Yb{sup 3+} ions to Yb{sup 2+}. The photodarkening of ytterbium-doped fibres by IR pumping is shown to result from oxygen hole centre generation. A phenomenological model is proposed for the IR-pumping-induced photodarkening of ytterbium-doped fibres. The model predicts that colour centre generation in the core glass network and the associated absorption in the visible range result from a cooperative effect involving simultaneous excitation of a cluster composed of several closely spaced Yb{sup 3+} ions.« less

Depression masquerading as chest pain in a patient with Wolff Parkinson White syndrome

PubMed Central

Madabushi, Rajashree; Agarwal, Anil; Gautam, Sujeet K S; Khuba, Sandeep

2016-01-01

Wolff Parkinson White (WPW) syndrome is a condition in which there is an aberrant conduction pathway between the atria and ventricles, resulting in tachycardia. A 42-year-old patient, who was treated for WPW syndrome previously, presented with chronic somatic pain. With her cardiac condition in mind, she was thoroughly worked up for a recurrence of disease. As part of routine screening of all patients at our pain clinic, she was found to have severe depression as per the Patient Health Questionnaire–9 (PHQ–9) criteria. After ruling out sinister causes, she was treated for depression using oral Duloxetine and counselling. This led to resolution of symptoms, and improved her mood and functional capability. This case highlights the use of psychological screening tools and diligent examination in scenarios as confusing as the one presented here. Addressing the psychological aspects of pain and adopting a holistic approach are as important as treatment of the primary pathology. PMID:27738505

[Lung adenocarcinoma with concomitant EGFR mutation and ALK rearrangement].

PubMed

Caliez, J; Monnet, I; Pujals, A; Rousseau-Bussac, G; Jabot, L; Boudjemaa, A; Leroy, K; Chouaid, C

2017-05-01

Among patients with non-small-cell lung cancer, coexistence of EGFR mutation and ALK rearrangement is rare. We describe the clinical features of two patients with this double anomaly. A 62-year-old Caucasian non-smoking woman was diagnosed with cT4N0M0 lung adenocarcinoma. Initial biopsy showed EGFR mutation and ALK rearrangement. She received cisplatin-gemcitabine, followed by 17 months of gemcitabine. Owing to progression, she received erlotinib for 14 months, then paclitaxel for 6 months and finally crizotinib. A partial response was achieved and maintained for 24 months. A 45-year-old Caucasian woman, light smoker, was diagnosed with cT2N3M0 lung adenocarcinoma. Only EGFR mutation was found on initial analysis. She underwent treatment with cisplatin-gemcitabine and thoracic radiotherapy. Progression occurred after 8 months and afatinbib was started. Eight months later, progression was observed with a neoplasic pleural effusion in which tumor cells expressing ALK rearrangement were found. A new FISH analysis was performed on the initial tumor but did not find this rearrangement. Despite a third line of crizotinib, the patient died one month later. The literature shows 45 other cases of these two abnormalities, observed either from the start or during follow-up. EGFR's TKI were almost always given before ALK's TKI. Therapeutic strategy needs to be clarified in cases of double alteration. With regard to the second patient, appearance of ALK rearrangement may constitute a resistance mechanism to EGFR's TKI. Copyright © 2016 SPLF. Published by Elsevier Masson SAS. All rights reserved.

Oncogenic rearrangements driving ionizing radiation–associated human cancer

PubMed Central

Santoro, Massimo; Carlomagno, Francesca

2013-01-01

The Chernobyl nuclear disaster has caused a remarkable increase in radiation-induced papillary thyroid carcinoma in children and young adults. In this issue of the JCI, Ricarte-Filho and colleagues demonstrate that chromosomal rearrangements are the oncogenic “drivers” in most post-Chernobyl carcinomas and that they often lead to unscheduled activation of the MAPK signaling pathway. These findings represent a major step forward in our understanding of radiation-induced carcinogenesis and suggest various hypotheses about the mechanisms underlying the formation and selection of gene rearrangements during cancer cell evolution. PMID:24162670

Stereochemically probing the photo-Favorskii rearrangement: a mechanistic investigation.

PubMed

Givens, Richard S; Rubina, Marina; Stensrud, Kenneth F

2013-03-01

Using model (R)-2-acetyl-2-phenyl acetate esters of (S)- or (R)-α-substituted-p-hydroxybutyrophenones (S,R)-12a and (R,R)-12b, we have shown that a highly efficient photo-Favorskii rearrangement proceeds through a series of intermediates to form racemic rearrangement products. The stereogenic methine on the photoproduct, rac-2-(p-hydroxyphenyl)propanoic acid (rac-9), is formed by closure of a phenoxy-allyloxy intermediate 17 collapsing to a cyclopropanone, the "Favorskii" intermediate 18. These results quantify the intermediacy of a racemized triplet biradical (3)16 on the major rearrangement pathway elusively to the intermediate 18. Thus, intersystem crossing from the triplet biradical surface to the ground state generates a planar zwitterion prior to formation of a Favorskii cyclopropanone that retains no memory of its stereochemical origin. These results parallel the mechanism of Dewar and Bordwell for the ground state formation of cyclopropanone 3 that proceeds through an oxyallyl zwitterionic intermediate. The results are not consistent with the stereospecific S(N)2 ground state Favorskii mechanism observed by Stork, House, and Bernetti. Interconversion of the diastereomeric starting esters of (S,R)-12a and (R,R)-12b during photolysis did not occur, thus ruling out leaving group return prior to rearrangement.

Stereochemically Probing the photo-Favorskii Rearrangement: A Mechanistic Investigation

PubMed Central

Givens, Richard S.; Rubina, Marina; Stensrud, Kenneth F.

2012-01-01

Using model (R)-2-acetyl-2-phenyl acetate esters of (S)- or (R)-α-substituted-p-hydroxybutyrophenones (S,R)-12a and (R,R)-12b, we have shown that a highly efficient photo-Favorskii rearrangement proceeds through a series of intermediates to form racemic rearrangement products. The stereogenic methine on the photoproduct, rac-2-(p-hydroxyphenyl)propanoic acid (rac-9), is formed by closure of a phenoxy-allyloxy intermediate 17 collapsing to a cyclopropanone, the “Favorskii” intermediate 18. These results quantify the intermediacy of a racemized triplet biradical 316 on the major rearrangement pathway elusively to the intermediate 18. Thus, intersystem crossing from the triplet biradical surface to the ground state generates a planar zwitterion prior to formation of a Favorskii cyclopropanone that retains no memory of its stereochemical origin. These results parallel the mechanism of Dewar and Bordwell for the ground state formation of cyclopropanone 3 that proceed through an oxyallyl zwitterionic intermediate. The results are not consistent with the stereospecific SN2 ground state Favorskii mechanism observed by Stork, House, and Bernetti. Interconversion of the diastereomeric starting esters of (S,R)-12a and (R,R)-12b during photolysis did not occur thus ruling out leaving group return prior to rearrangement. PMID:23057737

The He+H¯→He p¯+e+ rearrangement

NASA Astrophysics Data System (ADS)

Todd, Allan C.; Armour, Edward A. G.

2006-06-01

In this paper, we present a summary of our work in progress on calculating cross sections for the He+H¯→He p¯+e+ rearrangement process in He H¯ scattering. This has involved a study of the system He p¯ within the Born-Oppenheimer (BO) approximation using the Rayleigh-Ritz variational method. This work has been reported in [A.C. Todd, E.A.G. Armour, J. Phys. B 38 (2005) 3367] and is summarised here. Similar calculations are in progress for the He+H¯ entrance channel. We intend to use the entrance channel and rearrangement channel wave functions to obtain the cross sections for the rearrangement using the distorted wave Born approximation T-matrix method described elsewhere in these proceedings [E.A.G. Armour, S. Jonsell, Y. Liu, A.C. Todd, these Proceedings, doi:10.1016/j.nimb.2006.01.049].

Wolff-Parkinson-White syndrome in Patients With MELAS.

PubMed

Sproule, Douglas M; Kaufmann, Petra; Engelstad, Kristen; Starc, Thomas J; Hordof, Allan J; De Vivo, Darryl C

2007-11-01

Tissues with high energy demands, such as the heart, are susceptible to the effects of mitochondrial DNA point mutations. To investigate the frequency of Wolff-Parkinson-White (WPW) syndrome among a phenotypically and genotypically homogeneous cohort of patients with MELAS (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes) and the A3243G mutation most commonly associated with MELAS syndrome. Survey. The Pediatric Neuromuscular Disease Center at Columbia University. Patients Thirty patients with the A3243G mutation and MELAS syndrome enrolled in a clinical trial to assess the effect of dichloroacetate on neurologic symptoms. Medical histories and electrocardiograms were reviewed and DNA samples from fibroblasts, urine and cheek epithelial cells, leukocytes, and hair were analyzed to determine mitochondrial mutation abundance and estimate total mutation burden. Four of 30 patients (13%) had a clinical history of, or electrocardiographic findings consistent with, WPW syndrome. In 2 patients, WPW syndrome preceded MELAS syndrome by 15 and 21 years. The tissue burden of mutant mitochondria was similar in patients with (49.4%) and without (39.1%) WPW syndrome. The prevalence of WPW syndrome among patients with MELAS syndrome and the A3243G mutation appears much higher than in the normal population and may become manifest earlier than neurologic symptoms. Patients with WPW syndrome and neurologic abnormalities consistent with MELAS syndrome, such as seizures, deafness, short stature, and stroke, should be screened for the A3243G mutation. Moreover, patients with MELAS syndrome should be monitored for cardiac anomalies including cardiomyopathy and WPW syndrome.

A BAC clone fingerprinting approach to the detection of human genome rearrangements

PubMed Central

Krzywinski, Martin; Bosdet, Ian; Mathewson, Carrie; Wye, Natasja; Brebner, Jay; Chiu, Readman; Corbett, Richard; Field, Matthew; Lee, Darlene; Pugh, Trevor; Volik, Stas; Siddiqui, Asim; Jones, Steven; Schein, Jacquie; Collins, Collin; Marra, Marco

2007-01-01

We present a method, called fingerprint profiling (FPP), that uses restriction digest fingerprints of bacterial artificial chromosome clones to detect and classify rearrangements in the human genome. The approach uses alignment of experimental fingerprint patterns to in silico digests of the sequence assembly and is capable of detecting micro-deletions (1-5 kb) and balanced rearrangements. Our method has compelling potential for use as a whole-genome method for the identification and characterization of human genome rearrangements. PMID:17953769

Enhanced emission and photoconductivity due to photo-induced charge transfer from Au nanoislands to ZnO

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wu, Shang-Hsuan; Chan, Ching-Hsiang; Liang, Ching-Tarng

2016-01-25

We report systematic studies based on photoluminescence, Hall, and photoconductivity measurements together with theoretical modeling in order to identify mechanisms for the photo-induced charge transfer effects in ZnO thin film incorporated with the Au nano-islands (AuNIs). Significant enhancement of near band edge emission and improvement in conductivity of ZnO/AuNIs samples after illumination are observed, which are attributed to the photo-induced hot electrons in Au which are then transferred into the conduction band of ZnO as long as the excitation energy is higher than the offset between the ZnO conduction-band minimum and Au Fermi level. Our experimental results are consistent withmore » the general features predicted by first principles calculations.« less

Dissipative structure in the photo-induced phase under steady light irradiation in the spin crossover complex.

PubMed

Nishihara, Taishi; Bousseksou, Azzdine; Tanaka, Koichiro

2013-12-16

We report the spatial and temporal dynamics of the photo-induced phase in the iron (II) spin crossover complex Fe(ptz)(6)(BF(4))(2) studied by image measurement under steady light irradiation and transient absorption measurement. The dynamic factors are derived from the spatial and temporal fluctuation of the image in the steady state under light irradiation between 65 and 100 K. The dynamic factors clearly indicate that the fluctuation has a resonant frequency that strongly depends on the temperature, and is proportional to the relaxation rate of the photo-induced phase. This oscillation of the speckle pattern under steady light irradiation is ascribed to the nonlinear interaction between the spin state and the lattice volume at the surface.

Photo-inducible Crosslinked Nanoassemblies for pH-Controlled Drug Release

PubMed Central

Dickerson, Matthew; Winquist, Nickolas; Bae, Younsoo

2014-01-01

Purpose To control drug release from block copolymer nanoassemblies by variation in the degree of photo-crosslinking and inclusion of acid sensitive linkers. Methods Poly(ethylene glycol)-poly(aspartate-hydrazide-cinnamate) (PEG-CNM) block copolymers were prepared and conjugated with a model drug, doxorubicin (DOX), through acid sensitive hydrazone linkers. The block copolymers formed photo-inducible, self-assembled nanoassemblies (piSNAs), which were used to produce photo-inducible crosslinked nanoassemblies (piCNAs) through UV crosslinking. The nanoassemblies were characterized to determine particle size, surface charge, pH- and crosslinking-dependent DOX release, in vitro cytotoxicity, and intracellular uptake as a function of photo-crosslinking degree. Results Nanoassemblies with varying photo-crosslinking degrees were successfully prepared while retaining particle size and surface charge. Photo-crosslinking caused no noticeable change in DOX release from the nanoassemblies at pH 7.4, but the DOX-loaded nanoassemblies modulated drug release as a function of crosslinking at pH 6.0. The nanoassemblies showed similar cytotoxicity regardless of crosslinking degrees, presumably due to the low cellular uptake and cell nucleus drug accumulation. Conclusion Photo-crosslinking is useful to control drug release from pH-sensitive block copolymer nanoassemblies as a function of crosslinking without altering the particle properties, and thus providing unique tools to investigate the pharmaceutical effects of drug release on cellular response. PMID:24254196

Is isoproterenol really required during electrophysiological study in patients with Wolff-Parkinson-White syndrome?

PubMed

Pauriah, Maheshwar; Cismaru, Gabriel; Sellal, Jean-Marc; De Chillou, Christian; Brembilla-Perrot, Béatrice

2013-01-01

We have studied the results of electrophysiological study (EPS) in patients with Wolff-Parkinson-White syndrome (WPW) and spontaneous adverse clinical presentation and determined whether isoproterenol added incremental value. EPS was performed in 63 patients with WPW and adverse clinical presentation at baseline. EPS was repeated after infusion of isoproterenol in 37 patients, including 25 without criteria for a malignant form at baseline. Atrioventricular orthodromic tachycardia was induced 44%, antidromic tachycardia in 11%, atrial fibrillation (AF) in 68% at baseline. At baseline EPS, criteria for a malignant form (AF induction and shortest CL <250 ms) were noted in 60%; tachycardia was not inducible in 16%. All the patients met the criteria for a malignant form after isoproterenol. EPS at baseline missed 16% of patients at risk of life-threatening arrhythmias who had no inducible tachyarrhythmia and 40% without classical criteria for malignant form. Copyright © 2013 Elsevier Inc. All rights reserved.

Ultrafast Transient Absorption Spectroscopy Investigation of Photoinduced Dynamics in POLY(3-HEXYLTHIOPHENE)-BLOCK-OLIGO(ANTHRACENE-9,10-DIYL)

NASA Astrophysics Data System (ADS)

Strain, Jacob; Rathnayake, Hemali; Liu, Jinjun

2017-06-01

Semiconducting polymer nanostructures featuring bulk heterojunction (BHJ) architecture are promising light harvesters in photovoltaic (PV) devices because they allow control of individual domain sizes, internal structure and ordering, as well as well-defined contact between the electron donor and acceptor. Power conversion efficiency (PCE) of PV devices strongly depends on photoinduced dynamics. Understanding and optimizing photoinduced charge transfer processes in BHJ's hence help improve the performance of PV devices and increase their PCE in particular. We have investigated the photoinduced dynamics of a block polymer containing moieties of poly-3-hexylthiophene (P3HT) and polyanthracene (PANT) in solution and in solid state with femtosecond transient absorption (TA) spectroscopy. The dynamics of the polymer PANT alone are also studied as a control. The TA spectra of PANT includes a strong excited state absorption centered at 610 (nm) along with a stimulated emission signal stretching past the detection limit into the UV region which is absent in the monomer's spectra in the detection window. The block polymer's TA spectra strongly resembles that of P3HT but a noticeable positive pull on P3HT's stimulated emission signal residing at 575-620 (nm) is indicative of the excited state absorption of PANT in the adjacent spectral region. The doubling of the lifetime exciton delocalization on the block polymer versus P3HT alone have alluded that the lifetime of P3HT is extended by the covalent addition of PANT. The current spectroscopic investigation represents an interesting example of photoinduced processes in systems with complex energy level structure. Studies of dependence of change generation and separation on composition, dimension, and morphology of the heterojunctions are in process.

Pronounced photosensitivity of molecular [Ru(bpy)2(OSO)]+ solutions based on two photoinduced linkage isomers.

PubMed

Dieckmann, Volker; Eicke, Sebastian; Rack, Jeffrey J; Woike, Theo; Imlau, Mirco

2009-08-17

Photosensitive properties of [Ru(bpy)(2)(OSO)] PF(6) dissolved in propylene carbonate originating from photoinduced linkage isomerism have been studied by temperature and exposure dependent transmission and UV/Vis absorption spectroscopy. An exceeding photochromic photosensitivity of S = (63 +/- 10) x 10(3) cm l J(-1) mol(-1) is determined. It is attributed to a maximum population of 100% molecules in the photoinduced isomers, a unique absorption cross section per molecule and a very low light exposure of Q(0) = (0.25 +/- 0.03) Ws cm(-2) for isomerism. Relaxation studies of O-bonded to S-bonded isomers at different temperatures verify the existence of two distinct structures of linkage isomers determined by the activation energies of E(A,1) = (0.76 +/- 0.08) eV and E(A,2) = (1.00 +/- 0.14) eV.

Photoinduced charge separation in a colloidal system of exfoliated layered semiconductor controlled by coexisting aluminosilicate clay.

PubMed

Nakato, Teruyuki; Yamada, Yoshimi; Miyamoto, Nobuyoshi

2009-02-05

We investigated photoinduced charge separation occurring in a multicomponent colloidal system composed of oxide nanosheets of photocatalytically active niobate and photochemically inert clay and electron accepting methylviologen dications (MV2+). The inorganic nanosheets were obtained by exfoliation of layered hexaniobate and hectorite clay. The niobate and clay nanosheets were spatially separated in the colloidally dispersed state, and the MV2+ molecules were selectively adsorbed on the clay platelets. UV irradiation of the colloids led to electron transfer from the niobate nanosheets to the MV2+ molecules adsorbed on clay. The photoinduced electron transfer produced methylviologen radical cations (MV*+), which was characterized by high yield and long lifetime. The yield and stability of the MV*+ species were found to depend strongly on the clay content of the colloid: from a few mol % to approximately 70 mol % of the yield and several tens of minutes to more than 40 h of the lifetime. The contents of the niobate nanosheets and MV2+ molecules and the aging of the colloid also affected the photoinduced charge separation. In the absence of MV2+ molecules in the colloid, UV irradiation induced electron accumulation in the niobate nanosheets. The stability of the electron-accumulated state also depended on the clay content. The variation in the photochemical behavior is discussed in relation to the viscosity of the colloid.

Rearranged hopanes in sediments and petroleum

NASA Astrophysics Data System (ADS)

Moldowan, J. Michael; Fago, Frederick J.; Carlson, Robert M. K.; Young, Donald C.; an Duvne, Greg; Clardy, Jon; Schoell, Martin; Pillinger, Colin T.; Watt, David S.

1991-11-01

Two new rearranged hopanoid hydrocarbons have been isolated from a Prudhoe Bay crude, Alaska. 17α(H)-15α-methyl-27-norhopane was determined by X-ray crystallography. It is the first identified member of a new series of rearranged hopanes we propose to call "17α(H)-diahopanes." Analysis by gas chromatography-mass spectrometry - mass spectrometry (GC-MS-MS) of the parents of m/z 191 in several crudes suggests that this compound is a member of a C 29-C 34 series of 17α(H)-diahopanes common to many crude oils and sediments. In addition, a new member of the 18α(H)-neohopane series has also been elucidated. Determination of 18α(H)-17α-methyl-28,30-dinorhopane [18α(H)-30-norneohopane ], which we propose to nickname "C 29Ts," hinged upon advanced nuclear magnetic resonance (NMR) techniques (at 500 and 600 MHz) such as proton-detected 1H- 13C correlated spectra for the C-skeleton and Rotating-frame Overhauser Enhancement Spectroscopy (ROESY) for stereochemistry, as well as several other two-dimensional (2D) NMR techniques. This compound is the second known pseudohomolog of the neohopane series (together with 18α(H),22,29,30-trisnorneohopane, Ts), but the existence of additional pseudohomologs is still not clear. The structures of these rearranged hopanes are consistent with an origin by catalytic rearrangement from hopenes during early diagenesis. Carbon isotopic data collected on Ts, 17α(H)-diahopane, C 29Ts, 17α(H)-22,29,30-trisnorhopane (Tm), 17α(H)-30-norhopane, and 17α(H)-hopane isolated from the Prudhoe Bay oil are in the -27 to -28%o δ 13C range supporting mechanistic arguments based on structures that all are derived from common precursors. These δ 13C values are slightly more positive than the whole Prudhoe Bay oil (-30.1%), suggesting that these hopanes may have been derived from heterotrophic or cyanobacteria in the paleoecosystem during deposition of its source rock. Molecular mechanics calculations predict relative thermal stabilities in the

The use of echocardiography in Wolff-Parkinson-White syndrome.

PubMed

Cai, Qiangjun; Shuraih, Mossaab; Nagueh, Sherif F

2012-04-01

Endocardial mapping and radiofrequency catheter ablation are well established modalities for the diagnosis and treatment of patients with Wolff-Parkinson-White (WPW) syndrome associated with tachyarrhythmias. However, the electrophysiologic techniques are invasive, require radiation exposure, and lack spatial resolution of cardiac structures. A variety of echocardiographic techniques have been investigated as a non-invasive alternative for accessory pathway localization. Conventional M-mode echocardiography can detect the fine premature wall motion abnormalities associated with WPW syndrome. However, it is unable to identify the exact site of accessory pathway with sufficient accuracy. 2D, 2D-guided M-mode, and 2D phase analysis techniques are limited by image quality and endocardial border definition. Various modalities of tissue Doppler echocardiography significantly increase the accuracy of left-sided accessory pathway localization to 80-90% even in patients with poor acoustic window. However, right-sided pathways remain a diagnostic challenge. Strain echocardiography by speckle tracking has recently been evaluated and appears promising. Different cardiac abnormalities have been detected by echocardiography in WPW patients. Patients with WPW syndrome and tachyarrhythmias have impaired systolic and diastolic function which improves after radiofrequency ablation. Echocardiography is useful in identifying patient with accessory pathway-associated left ventricular dyssynchrony and dysfunction who may benefit from ablation therapy. Transesophageal and intracardiac echocardiography have been used to guide ablation procedure. Ablation-related complications detected by routine echocardiography are infrequent, rarely clinically relevant, and of limited value.

Surface relief gratings: experiments, physical scenarios, and photoinduced (anomalous) dynamics of functionalized polymer chains

NASA Astrophysics Data System (ADS)

Mitus, A. C.; Radosz, W.; Wysoczanski, T.; Pawlik, G.

2017-10-01

Surface Relief Gratings (SRG) were demonstrated experimentally more than 20 years ago. Despite many years of research efforts the underlying physical mechanisms remain unclear. In this paper we present a short overview of the main concepts related to SRG - photofluidization and its counterpart, the orientational approach - based on a seminal paper by Saphiannikova et al. Next, we summarize the derivation of the cos2 θ potential, following the lines of recent paper of this group. Those results validate the generic Monte Carlo model for the photoinduced build-up of the density and SRG gratings in a model polymer matrix functionalized with azo-dyes, presented in another part of the paper. The characterization of the photoinduced motion of polymer chains, based on our recent paper, is briefly discussed in the last part of the paper. This discussion offers a sound insight into the mechanisms responsible for inscription of SRG as well as for single functionalized nanoparticle studies.

Clinical Activity of Alectinib in Advanced RET-Rearranged Non-Small Cell Lung Cancer.

PubMed

Lin, Jessica J; Kennedy, Elizabeth; Sequist, Lecia V; Brastianos, Priscilla K; Goodwin, Kelly E; Stevens, Sara; Wanat, Alexandra C; Stober, Lisa L; Digumarthy, Subba R; Engelman, Jeffrey A; Shaw, Alice T; Gainor, Justin F

2016-11-01

Chromosomal rearrangements involving rearranged during transfection gene (RET) occur in 1% to 2% of NSCLCs and may confer sensitivity to rearranged during transfection (RET) inhibitors. Alectinib is an anaplastic lymphoma kinase tyrosine kinase inhibitor (TKI) that also has anti-RET activity in vitro. The clinical activity of alectinib in patients with RET-rearranged NSCLC has not yet been reported. We have described four patients with advanced RET-rearranged NSCLC who were treated with alectinib (600 mg twice daily [n = 3] or 900 mg twice daily [n = 1]) as part of single-patient compassionate use protocols or off-label use of the commercially available drug. Four patients with metastatic RET-rearranged NSCLC were identified. Three of the four had received prior RET TKIs, including cabozantinib and experimental RET inhibitors. In total, we observed two (50%) objective radiographic responses after treatment with alectinib (one confirmed and one unconfirmed), with durations of therapy of 6 months and more than 5 months (treatment ongoing), respectively. Notably, one of these two patients had his dose of alectinib escalated to 900 mg twice daily and had clinical improvement in central nervous system metastases. In addition, one patient (25%) experienced a best response of stable disease lasting approximately 6 weeks (the drug discontinued for toxicity). A fourth patient who was RET TKI-naive had primary progression while receiving alectinib. Alectinib demonstrated preliminary antitumor activity in patients with advanced RET-rearranged NSCLC, most of whom had received prior RET inhibitors. Larger prospective studies with longer follow-up are needed to assess the efficacy of alectinib in RET-rearranged NSCLC and other RET-driven malignancies. In parallel, development of more selective, potent RET TKIs is warranted. Copyright © 2016 International Association for the Study of Lung Cancer. Published by Elsevier Inc. All rights reserved.

Translocations, inversions and other chromosome rearrangements.

PubMed

Morin, Scott J; Eccles, Jennifer; Iturriaga, Amanda; Zimmerman, Rebekah S

2017-01-01

Chromosomal rearrangements have long been known to significantly impact fertility and miscarriage risk. Advancements in molecular diagnostics are challenging contemporary clinicians and patients in accurately characterizing the reproductive risk of a given abnormality. Initial attempts at preimplantation genetic diagnosis were limited by the inability to simultaneously evaluate aneuploidy and missed up to 70% of aneuploidy in chromosomes unrelated to the rearrangement. Contemporary platforms are more accurate and less susceptible to technical errors. These techniques also offer the ability to improve outcomes through diagnosis of uniparental disomy and may soon be able to consistently distinguish between normal and balanced translocation karyotypes. Although an accurate projection of the anticipated number of unbalanced embryos is not possible at present, confirmation of normal/balanced status results in high pregnancy rates (PRs) and diagnostic accuracy. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Sampling and counting genome rearrangement scenarios

PubMed Central

2015-01-01

Background Even for moderate size inputs, there are a tremendous number of optimal rearrangement scenarios, regardless what the model is and which specific question is to be answered. Therefore giving one optimal solution might be misleading and cannot be used for statistical inferring. Statistically well funded methods are necessary to sample uniformly from the solution space and then a small number of samples are sufficient for statistical inferring. Contribution In this paper, we give a mini-review about the state-of-the-art of sampling and counting rearrangement scenarios, focusing on the reversal, DCJ and SCJ models. Above that, we also give a Gibbs sampler for sampling most parsimonious labeling of evolutionary trees under the SCJ model. The method has been implemented and tested on real life data. The software package together with example data can be downloaded from http://www.renyi.hu/~miklosi/SCJ-Gibbs/ PMID:26452124

Photoinduced reactions of both 2-formyl-2H-azirine and isoxazole: A theoretical study based on electronic structure calculations and nonadiabatic dynamics simulations.

PubMed

Cao, Jun

2015-06-28

In the present work, the combined electronic structure calculations and dynamics simulations have been performed to explore photocleavages of 2-formyl-2H-azirine and isoxazole in the gas phase and the subsequent rearrangement reactions. The carbonyl n → π(*) transition induces a cleavage of the C-N single bond of 2-formyl-2H-azirine to yield β-formylvinylnitrene in open-shell singlet state. However, the n → π(*) excitation of the imine chromophore results in a cleavage of the C-C single bond, producing a nitrile ylide intermediate through an internal conversion to the ground state. β-formylvinylnitrene and nitrile ylide with the carbonyl group are easily transformed into 2-formyl-2H-azirine and oxazole, respectively. The N-O bond cleavages on both S1((1)ππ(*)) and S2((1)nNπ(*)) of isoxazole are ultrafast processes, and they give products of 2-formyl-2H-azirine, 3-formylketenimine, HCN + CHCHO, and HCO + CHCHN. Both 2H-azirines and ketenimines were suggested to be formed from the triplet vinylnitrenes by intersystem crossing in the previous studies. However, our calculations show that the singlet β-formylvinylnitrene is responsible for the formation of 2-formyl-2H-azirine and 3-formylketenimine, and the singlet vinylnitrenes can play a key role in the photoinduced reactions of both 2H-azirines and isoxazoles.

Photoinduced reactions of both 2-formyl-2H-azirine and isoxazole: A theoretical study based on electronic structure calculations and nonadiabatic dynamics simulations

NASA Astrophysics Data System (ADS)

Cao, Jun

2015-06-01

In the present work, the combined electronic structure calculations and dynamics simulations have been performed to explore photocleavages of 2-formyl-2H-azirine and isoxazole in the gas phase and the subsequent rearrangement reactions. The carbonyl n → π* transition induces a cleavage of the C—N single bond of 2-formyl-2H-azirine to yield β-formylvinylnitrene in open-shell singlet state. However, the n → π* excitation of the imine chromophore results in a cleavage of the C—C single bond, producing a nitrile ylide intermediate through an internal conversion to the ground state. β-formylvinylnitrene and nitrile ylide with the carbonyl group are easily transformed into 2-formyl-2H-azirine and oxazole, respectively. The N—O bond cleavages on both S1(1ππ*) and S2(1nNπ*) of isoxazole are ultrafast processes, and they give products of 2-formyl-2H-azirine, 3-formylketenimine, HCN + CHCHO, and HCO + CHCHN. Both 2H-azirines and ketenimines were suggested to be formed from the triplet vinylnitrenes by intersystem crossing in the previous studies. However, our calculations show that the singlet β-formylvinylnitrene is responsible for the formation of 2-formyl-2H-azirine and 3-formylketenimine, and the singlet vinylnitrenes can play a key role in the photoinduced reactions of both 2H-azirines and isoxazoles.

Direct experimental evidence for photoinduced strong-coupling polarons in organolead halide perovskite nanoparticles

DOE Office of Scientific and Technical Information (OSTI.GOV)

Zheng, Kaibo; Qatar Univ., Doha; Abdellah, Mohamed

Echoing the roaring success of their bulk coun-terparts, nano-objects built from organolead halide perov-skites (OLHP) present bright prospects for surpassing the performances of their conventional organic and inorganic analogues in photodriven technologies. Unraveling the pho-toinduced charge dynamics is essential for optimizing OLHP optoelectronic functionalities. However, mapping the carri-er-lattice interactions remains challenging, owing to their manifestations on multiple length scales and time scales. By correlating ultrafast time-resolved optical and X-ray absorp-tion measurements, this work reveals the photoinduced formation of strong-coupling polarons in CH 3NH 3PbBr 3 nanoparticles. Such polarons originate from the self-trapping of electrons in the net Coulombic field causedmore » by the dis-placed inorganic nuclei and the oriented organic cations. The transient structural change detected at the Pb L 3 X-ray ab-sorption edge is well captured by a distortion with average bond elongation in the [PbBr 6] 2- motif. As a result, general implications for designing novel OLHP nanomaterials targeting the active utilization of these quasi-particles are outlined.« less

Direct experimental evidence for photoinduced strong-coupling polarons in organolead halide perovskite nanoparticles

DOE PAGES

Zheng, Kaibo; Qatar Univ., Doha; Abdellah, Mohamed; ...

2016-10-28

Echoing the roaring success of their bulk coun-terparts, nano-objects built from organolead halide perov-skites (OLHP) present bright prospects for surpassing the performances of their conventional organic and inorganic analogues in photodriven technologies. Unraveling the pho-toinduced charge dynamics is essential for optimizing OLHP optoelectronic functionalities. However, mapping the carri-er-lattice interactions remains challenging, owing to their manifestations on multiple length scales and time scales. By correlating ultrafast time-resolved optical and X-ray absorp-tion measurements, this work reveals the photoinduced formation of strong-coupling polarons in CH 3NH 3PbBr 3 nanoparticles. Such polarons originate from the self-trapping of electrons in the net Coulombic field causedmore » by the dis-placed inorganic nuclei and the oriented organic cations. The transient structural change detected at the Pb L 3 X-ray ab-sorption edge is well captured by a distortion with average bond elongation in the [PbBr 6] 2- motif. As a result, general implications for designing novel OLHP nanomaterials targeting the active utilization of these quasi-particles are outlined.« less

Response to ERBB3-Directed Targeted Therapy in NRG1-Rearranged Cancers.

PubMed

Drilon, Alexander; Somwar, Romel; Mangatt, Biju P; Edgren, Henrik; Desmeules, Patrice; Ruusulehto, Anja; Smith, Roger S; Delasos, Lukas; Vojnic, Morana; Plodkowski, Andrew J; Sabari, Joshua; Ng, Kenneth; Montecalvo, Joseph; Chang, Jason; Tai, Huichun; Lockwood, William W; Martinez, Victor; Riely, Gregory J; Rudin, Charles M; Kris, Mark G; Arcila, Maria E; Matheny, Christopher; Benayed, Ryma; Rekhtman, Natasha; Ladanyi, Marc; Ganji, Gopinath

2018-06-01

NRG1 rearrangements are oncogenic drivers that are enriched in invasive mucinous adenocarcinomas (IMA) of the lung. The oncoprotein binds ERBB3-ERBB2 heterodimers and activates downstream signaling, supporting a therapeutic paradigm of ERBB3/ERBB2 inhibition. As proof of concept, a durable response was achieved with anti-ERBB3 mAb therapy (GSK2849330) in an exceptional responder with an NRG1 -rearranged IMA on a phase I trial (NCT01966445). In contrast, response was not achieved with anti-ERBB2 therapy (afatinib) in four patients with NRG1 -rearranged IMA (including the index patient post-GSK2849330). Although in vitro data supported the use of either ERBB3 or ERBB2 inhibition, these clinical results were consistent with more profound antitumor activity and downstream signaling inhibition with anti-ERBB3 versus anti-ERBB2 therapy in an NRG1 -rearranged patient-derived xenograft model. Analysis of 8,984 and 17,485 tumors in The Cancer Genome Atlas and MSK-IMPACT datasets, respectively, identified NRG1 rearrangements with novel fusion partners in multiple histologies, including breast, head and neck, renal, lung, ovarian, pancreatic, prostate, and uterine cancers. Significance: This series highlights the utility of ERBB3 inhibition as a novel treatment paradigm for NRG1 -rearranged cancers. In addition, it provides preliminary evidence that ERBB3 inhibition may be more optimal than ERBB2 inhibition. The identification of NRG1 rearrangements across various solid tumors supports a basket trial approach to drug development. Cancer Discov; 8(6); 686-95. ©2018 AACR. See related commentary by Wilson and Politi, p. 676 This article is highlighted in the In This Issue feature, p. 663 . ©2018 American Association for Cancer Research.

The History of Bordetella pertussis Genome Evolution Includes Structural Rearrangement

PubMed Central

Peng, Yanhui; Loparev, Vladimir; Batra, Dhwani; Bowden, Katherine E.; Burroughs, Mark; Cassiday, Pamela K.; Davis, Jamie K.; Johnson, Taccara; Juieng, Phalasy; Knipe, Kristen; Mathis, Marsenia H.; Pruitt, Andrea M.; Rowe, Lori; Sheth, Mili; Tondella, M. Lucia; Williams, Margaret M.

2017-01-01

ABSTRACT Despite high pertussis vaccine coverage, reported cases of whooping cough (pertussis) have increased over the last decade in the United States and other developed countries. Although Bordetella pertussis is well known for its limited gene sequence variation, recent advances in long-read sequencing technology have begun to reveal genomic structural heterogeneity among otherwise indistinguishable isolates, even within geographically or temporally defined epidemics. We have compared rearrangements among complete genome assemblies from 257 B. pertussis isolates to examine the potential evolution of the chromosomal structure in a pathogen with minimal gene nucleotide sequence diversity. Discrete changes in gene order were identified that differentiated genomes from vaccine reference strains and clinical isolates of various genotypes, frequently along phylogenetic boundaries defined by single nucleotide polymorphisms. The observed rearrangements were primarily large inversions centered on the replication origin or terminus and flanked by IS481, a mobile genetic element with >240 copies per genome and previously suspected to mediate rearrangements and deletions by homologous recombination. These data illustrate that structural genome evolution in B. pertussis is not limited to reduction but also includes rearrangement. Therefore, although genomes of clinical isolates are structurally diverse, specific changes in gene order are conserved, perhaps due to positive selection, providing novel information for investigating disease resurgence and molecular epidemiology. IMPORTANCE Whooping cough, primarily caused by Bordetella pertussis, has resurged in the United States even though the coverage with pertussis-containing vaccines remains high. The rise in reported cases has included increased disease rates among all vaccinated age groups, provoking questions about the pathogen's evolution. The chromosome of B. pertussis includes a large number of repetitive mobile

Breakpoint Features of Genomic Rearrangements in Neuroblastoma with Unbalanced Translocations and Chromothripsis

PubMed Central

Daveau, Romain; Combaret, Valérie; Pierre-Eugène, Cécile; Cazes, Alex; Louis-Brennetot, Caroline; Schleiermacher, Gudrun; Ferrand, Sandrine; Pierron, Gaëlle; Lermine, Alban; Frio, Thomas Rio; Raynal, Virginie; Vassal, Gilles; Barillot, Emmanuel; Delattre, Olivier; Janoueix-Lerosey, Isabelle

2013-01-01

Neuroblastoma is a pediatric cancer of the peripheral nervous system in which structural chromosome aberrations are emblematic of aggressive tumors. In this study, we performed an in-depth analysis of somatic rearrangements in two neuroblastoma cell lines and two primary tumors using paired-end sequencing of mate-pair libraries and RNA-seq. The cell lines presented with typical genetic alterations of neuroblastoma and the two tumors belong to the group of neuroblastoma exhibiting a profile of chromothripsis. Inter and intra-chromosomal rearrangements were identified in the four samples, allowing in particular characterization of unbalanced translocations at high resolution. Using complementary experiments, we further characterized 51 rearrangements at the base pair resolution that revealed 59 DNA junctions. In a subset of cases, complex rearrangements were observed with templated insertion of fragments of nearby sequences. Although we did not identify known particular motifs in the local environment of the breakpoints, we documented frequent microhomologies at the junctions in both chromothripsis and non-chromothripsis associated breakpoints. RNA-seq experiments confirmed expression of several predicted chimeric genes and genes with disrupted exon structure including ALK, NBAS, FHIT, PTPRD and ODZ4. Our study therefore indicates that both non-homologous end joining-mediated repair and replicative processes may account for genomic rearrangements in neuroblastoma. RNA-seq analysis allows the identification of the subset of abnormal transcripts expressed from genomic rearrangements that may be involved in neuroblastoma oncogenesis. PMID:23991058

Hexose rearrangements upon fragmentation of N-glycopeptides and reductively aminated N-glycans.

PubMed

Wuhrer, Manfred; Koeleman, Carolien A M; Deelder, André M

2009-06-01

Tandem mass spectrometry of glycans and glycoconjugates in protonated form is known to result in rearrangement reactions leading to internal residue loss. Here we studied the occurrence of hexose rearrangements in tandem mass spectrometry of N-glycopeptides and reductively aminated N-glycans by MALDI-TOF/TOF-MS/MS and ESI-ion trap-MS/MS. Fragmentation of proton adducts of oligomannosidic N-glycans of ribonuclease B that were labeled with 2-aminobenzamide and 2-aminobenzoic acid resulted in transfer of one to five hexose residues to the fluorescently tagged innermost N-acetylglucosamine. Glycopeptides from various biological sources with oligomannosidic glycans were likewise shown to undergo hexose rearrangement reactions, resulting in chitobiose cleavage products that have acquired one or two hexose moieties. Tryptic immunoglobulin G Fc-glycopeptides with biantennary N-glycans likewise showed hexose rearrangements resulting in hexose transfer to the peptide moiety retaining the innermost N-acetylglucosamine. Thus, as a general phenomenon, tandem mass spectrometry of reductively aminated glycans as well as glycopeptides may result in hexose rearrangements. This characteristic of glycopeptide MS/MS has to be considered when developing tools for de novo glycopeptide structural analysis.

Rearrangement of mitochondrial tRNA genes in flat bugs (Hemiptera: Aradidae).

PubMed

Song, Fan; Li, Hu; Shao, Renfu; Shi, Aimin; Bai, Xiaoshuan; Zheng, Xiaorong; Heiss, Ernst; Cai, Wanzhi

2016-05-16

The typical insect mitochondrial (mt) genome organization, which contains a single chromosome with 37 genes, was found in the infraorder Pentatomomorpha (suborder Heteroptera). The arrangement of mt genes in these true bugs is usually the same as the ancestral mt gene arrangement of insects. Rearrangement of transfer RNA (tRNA) genes, however, has been found in two subfamilies of flat bugs (Mezirinae and Calisiinae, family Aradidae). In this study, we sequenced the complete mt genomes of four species from three other subfamilies (Aradinae, Carventinae and Aneurinae). We found tRNA gene rearrangement in all of these four species. All of the rearranged tRNA genes are located between the mitochondrial control region and cox1, indicating this region as a hotspot for gene rearrangement in flat bugs; the rearrangement is likely caused by events of tandem duplication and random deletion of genes. Furthermore, our phylogenetic and dating analyses indicated that the swap of positions between trnQ and trnI occurred ~162 million years ago (MYA) in the most recent common ancestor of the five subfamilies of flat bugs investigated to date, whereas the swap of positions between trnC and trnW occurred later in the lineage leading to Calisiinae, and the translocation of trnC and trnY occurred later than 134 MYA in the lineage leading to Aradinae.

Rearrangement of mitochondrial tRNA genes in flat bugs (Hemiptera: Aradidae)

PubMed Central

Song, Fan; Li, Hu; Shao, Renfu; Shi, Aimin; Bai, Xiaoshuan; Zheng, Xiaorong; Heiss, Ernst; Cai, Wanzhi

2016-01-01

The typical insect mitochondrial (mt) genome organization, which contains a single chromosome with 37 genes, was found in the infraorder Pentatomomorpha (suborder Heteroptera). The arrangement of mt genes in these true bugs is usually the same as the ancestral mt gene arrangement of insects. Rearrangement of transfer RNA (tRNA) genes, however, has been found in two subfamilies of flat bugs (Mezirinae and Calisiinae, family Aradidae). In this study, we sequenced the complete mt genomes of four species from three other subfamilies (Aradinae, Carventinae and Aneurinae). We found tRNA gene rearrangement in all of these four species. All of the rearranged tRNA genes are located between the mitochondrial control region and cox1, indicating this region as a hotspot for gene rearrangement in flat bugs; the rearrangement is likely caused by events of tandem duplication and random deletion of genes. Furthermore, our phylogenetic and dating analyses indicated that the swap of positions between trnQ and trnI occurred ~162 million years ago (MYA) in the most recent common ancestor of the five subfamilies of flat bugs investigated to date, whereas the swap of positions between trnC and trnW occurred later in the lineage leading to Calisiinae, and the translocation of trnC and trnY occurred later than 134 MYA in the lineage leading to Aradinae. PMID:27180804

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

PubMed Central

Liu, Pengfei; Erez, Ayelet; Sreenath Nagamani, Sandesh C.; Dhar, Shweta U.; Kołodziejska, Katarzyna E.; Dharmadhikari, Avinash V.; Cooper, M. Lance; Wiszniewska, Joanna; Zhang, Feng; Withers, Marjorie A.; Bacino, Carlos A.; Campos-Acevedo, Luis Daniel; Delgado, Mauricio R.; Freedenberg, Debra; Garnica, Adolfo; Grebe, Theresa A.; Hernández-Almaguer, Dolores; Immken, LaDonna; Lalani, Seema R.; McLean, Scott D.; Northrup, Hope; Scaglia, Fernando; Strathearn, Lane; Trapane, Pamela; Kang, Sung-Hae L.; Patel, Ankita; Cheung, Sau Wai; Hastings, P. J.; Stankiewicz, Paweł; Lupski, James R.; Bi, Weimin

2011-01-01

SUMMARY Complex genomic rearrangements (CGR) consisting of two or more breakpoint junctions have been observed in genomic disorders. Recently, a chromosome catastrophe phenomenon termed chromothripsis, in which numerous genomic rearrangements are apparently acquired in one single catastrophic event, was described in multiple cancers. Here we show that constitutionally acquired CGRs share similarities with cancer chromothripsis. In the 17 CGR cases investigated we observed localization and multiple copy number changes including deletions, duplications and/or triplications, as well as extensive translocations and inversions. Genomic rearrangements involved varied in size and complexities; in one case, array comparative genomic hybridization revealed 18 copy number changes. Breakpoint sequencing identified characteristic features, including small templated insertions at breakpoints and microhomology at breakpoint junctions, which have been attributed to replicative processes. The resemblance between CGR and chromothripsis suggests similar mechanistic underpinnings. Such chromosome catastrophic events appear to reflect basic DNA metabolism operative throughout an organism’s life cycle. PMID:21925314

The prevalence of early repolarization in Wolff-Parkinson-White syndrome with a special reference to J waves and the effects of catheter ablation.

PubMed

Yagihara, Nobue; Sato, Akinori; Iijima, Kenichi; Izumi, Daisuke; Furushima, Hiroshi; Watanabe, Hiroshi; Irie, Tadanobu; Kaneko, Yoshiaki; Kurabayashi, Masahiko; Chinushi, Masaomi; Satou, Masahito; Aizawa, Yoshifusa

2012-01-01

We determined the prevalence of J waves in the electrocardiograms (ECG) of 120 patients with Wolff-Parkinson-White syndrome in comparison with J-wave prevalence in a control group of 1936 men and women with comparable demographic and ECG characteristics and with normal atrioventricular conduction. J waves were present only during manifest preexcitation in 22 of 120 patients (18.3%), disappearing after catheter ablation and suggesting that J waves were associated with the presence of preexcitation. J waves were present in 19 (15.8%) of 120 patients only after ablation, apparently having been masked by early depolarization of the preexcited myocardial region, and in 22 patients (18.3%), J waves were not altered significantly by preexcitation. Thus, the overall J-wave prevalence was 52.5% (63/120) and, excluding those apparently due to preexcitation, 34.8% (41/120), both substantially higher than the prevalence (11.5%) in the control group (P < .001 for both). The patients with J waves appearing only during preexcitation were younger, predominantly females. The presence of J waves after ablation was associated with a history of atrial fibrillation and shorter ventricular effective refractory period. It is concluded that the prevalence of J waves is high in patients with Wolff-Parkinson-White syndrome and is influenced by manifest preexcitation. Copyright © 2012 Elsevier Inc. All rights reserved.

Photoinduced toxicity of engineered nanomaterials

NASA Astrophysics Data System (ADS)

Jones, Philip Scott

Engineered nanomaterials including metal, metal oxide and carbon based nanomaterials are extensively used in a wide variety of applications to the extent that their presence in the environment is expected to increase dramatically over the next century. These nanomaterials may be photodegraded by solar radiation and thereby release metal ions into the environment that can produce cytotoxic and genotoxic effects. Photoinduced toxicity experiments are performed exposing human lung epithelial carcinoma cells [H1650] to engineered semiconductor nanoparticles such as CdSe quantum dots and ZnO nanoparticles after exposure to 3, 6, and 9 hours of solar simulated radiation. Cytotoxicity and genotoxicity of the metal ions are evaluated using ZnSO4 and CdCl2 solutions for the MTT assay and Comet assay respectively. The objective of the dissertation is to obtain quantitative information about the environmental transformation of engineered nanomaterials and their mechanism of toxicity. This information is critical for addressing the environmental health and safety risks of engineered nanomaterials to workers, consumers and the environment.

Photoinduced underwater superoleophobicity of TiO2 thin films.

PubMed

Sawai, Yusuke; Nishimoto, Shunsuke; Kameshima, Yoshikazu; Fujii, Eiji; Miyake, Michihiro

2013-06-11

The photoinduced wettabilities of water, n-hexadecane, dodecane, and n-heptane on a flat TiO2 surface prepared by a sol-gel method-based coating were investigated. An amphiphilic surface produced by UV irradiation exhibited underwater superoleophobicity with an extremely high static oil contact angle (CA) of over 160°. The TiO2 surface almost completely repelled the oil droplet in water. A robust TiO2 surface with no fragile nanomicrostructure was fabricated on a Ti mesh with a pore size of approximately 150 μm. The fabricated mesh was found to be applicable as an oil/water separation filter.

Photo-induced conjugation of tetrazoles to modified and native proteins.

PubMed

Siti, Winna; Khan, Amit Kumar; de Hoog, Hans-Peter M; Liedberg, Bo; Nallani, Madhavan

2015-03-21

Bio-orthogonal chemistry has been widely used for conjugation of polymer molecules to proteins. Here, we demonstrate the conjugation of polyethylene glycol (PEG) to bovine beta-lactoglobulin (BLG) by photo-induced cyclo-addition of tetrazole-appended PEG and allyl-modified BLG. During the course of the investigation, a significant side-reaction was found to occur for the conjugation of PEG-tetrazole to native BLG. Further exploration of the underlying chemistry reveals that the presence of a tryptophan residue is sufficient for conjugation of tetrazole-modified molecules.

Photoinduced Electronic Energy Transfer: Theoretical and Experimental Issues for Light Harvesting Applications

DTIC Science & Technology

2013-10-21

PHOTOINDUCED ELECTRONIC ENERGY TRANSFER - THEORETICAL AND EXPERIMENTAL ISSUES FOR LIGHT HARVESTING APPLICATIONS PAUL BRUMER UNIV OF TORONTO 10/21... Applications 5a. CONTRACT NUMBER 5b. GRANT NUMBER FA9550-10-1-0260 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) 5d. PROJECT...Harvesting Applications Grant Number: FA9550-10-1-0260 Program Manager: Dr. Tatjana Curcic, AFOSR Stated aims of the project

Electrophysiology testing and catheter ablation are helpful when evaluating asymptomatic patients with Wolff-Parkinson-White pattern: the pro perspective.

PubMed

Pappone, Carlo; Santinelli, Vincenzo

2015-09-01

Important advances in the natural history and diagnosis of, and therapy for, asymptomatic Wolff-Parkinson-White (WPW) syndrome have been made in the last decade by our group. These data have necessitated revisiting current practice guidelines to decide on the optimal management of the asymptomatic WPW population. There has also been an emphasis on identifying initially asymptomatic individuals who are at risk by nationwide screening programs using the electrocardiogram for prophylactic catheter ablation to prevent the lifetime risk of sudden cardiac death, particularly in young asymptomatic people, because only a subgroup of them is at high risk, requiring early catheter ablation. Copyright © 2015 Elsevier Inc. All rights reserved.

Chromosomal Rainbows detect Oncogenic Rearrangements of Signaling Molecules in Thyroid Tumors

DOE Office of Scientific and Technical Information (OSTI.GOV)

O'Brien, Benjamin; Jossart, Gregg H.; Ito, Yuko

2010-08-19

Altered signal transduction can be considered a hallmark of many solid tumors. In thyroid cancers the receptor tyrosine kinase (rtk) genes NTRK1 (Online Mendelian Inheritance in Man = OMIM *191315, also known as 'TRKA'), RET ('Rearranged during Transfection protooncogene', OMIM *164761) and MET (OMIM *164860) have been reported as activated, rearranged or overexpressed. In many cases, a combination of cytogenetic and molecular techniques allows elucidation of cellular changes that initiate tumor development and progression. While the mechanisms leading to overexpression of the rtk MET gene remain largely unknown, a variety of chromosomal rearrangements of the RET or NTKR1 gene couldmore » be demonstrated in thyroid cancer. Abnormal expressions in these tumors seem to follow a similar pattern: the rearrangement translocates the 3'-end of the rtk gene including the entire catalytic domain to an expressed gene leading to a chimeric RNA and protein with kinase activity. Our research was prompted by an increasing number of reports describing translocations involving ret and previously unknown translocation partners. We developed a high resolution technique based on fluorescence in situ hybridization (FISH) to allow rapid screening for cytogenetic rearrangements which complements conventional chromosome banding analysis. Our technique applies simultaneous hybridization of numerous probes labeled with different reporter molecules which are distributed along the target chromosome allowing the detection of cytogenetic changes at near megabase-pair (Mbp) resolution. Here, we report our results using a probe set specific for human chromosome 10, which is altered in a significant portion of human thyroid cancers (TC's). While rendering accurate information about the cytogenetic location of rearranged elements, our multi-locus, multi-color analysis was developed primarily to overcome limitations of whole chromosome painting (WCP) and chromosome banding techniques for fine

EqualTDRL: illustrating equivalent tandem duplication random loss rearrangements.

PubMed

Hartmann, Tom; Bernt, Matthias; Middendorf, Martin

2018-05-30

To study the differences between two unichromosomal circular genomes, e.g., mitochondrial genomes, under the tandem duplication random loss (TDRL) rearrangement it is important to consider the whole set of potential TDRL rearrangement events that could have taken place. The reason is that for two given circular gene orders there can exist different TDRL rearrangements that transform one of the gene orders into the other. Hence, a TDRL event cannot always be reconstructed only from the knowledge of the circular gene order before a TDRL event and the circular gene order after it. We present the program EqualTDRL that computes and illustrates the complete set of TDRLs for pairs of circular gene orders that differ by only one TDRL. EqualTDRL considers the circularity of the given genomes and certain restrictions on the TDRL rearrangements. Examples for the latter are sequences of genes that have to be conserved during a TDRL or pairs of genes that frame intergenic regions which might represent remnants of duplicated genes. Additionally, EqualTDRL allows to determine the set of TDRLs that are minimum with respect to the number of duplicated genes. EqualTDRL supports scientists to study the complete set of TDRLs that possibly could have taken place in the evolution of mitochondrial genomes. EqualTDRL is implemented in C++ using the ggplot2 package of the open source programming language R and is freely available from http://pacosy.informatik.uni-leipzig.de/equaltdrl .

Exercise testing in children with Wolff-Parkinson-White syndrome: what is its value?

PubMed

Dalili, M; Vahidshahi, K; Aarabi-Moghaddam, M Y; Rao, J Y; Brugada, P

2014-10-01

This study was conducted to evaluate the accuracy of exercise testing for predicting accessory pathway characteristics in children with Wolff-Parkinson-White (WPW) syndrome. The study enrolled 37 children with WPW syndrome and candidates for invasive electrophysiologic study (EPS). Exercise testing was performed for all the study participants before the invasive study. Data from the invasive EPS were compared with findings from the exercise testing. The sudden disappearance of the delta (Δ) wave was seen in 10 cases (27 %). No significant correlation was found between the Δ wave disappearance and the antegrade effective refractory period of the accessory pathway (AERP-AP) or the shortest pre-excited RR interval (SPERRI). The sensitivity, specificity, and positive and negative predictive values of Δ wave disappearance, based on AERP-AP as gold standard, were respectively 29.4, 80, 71.4, and 40 %. The corresponding values with SPERRI as the gold standard were respectively 23.8, 71.4, 71.4 and 23.8 %. Exercise testing has a medium to low rate of accuracy in detecting low-risk WPW syndrome patients in the pediatric age group.

Photoinduced PEG deshielding from ROS-sensitive linkage-bridged block copolymer-based nanocarriers for on-demand drug delivery.

PubMed

Li, Jie; Sun, Chunyang; Tao, Wei; Cao, Ziyang; Qian, Haisheng; Yang, Xianzhu; Wang, Jun

2018-07-01

Controlling poly(ethylene glycol) (PEG) shielding/deshielding at the desired site of action exhibits great advantages for nanocarrier-based on-demand drug delivery in vivo. However, the current PEG deshielding strategies were mainly designed for anticancer drug delivery; even so, their applications are also limited by tumor heterogeneity. As a proof-of-concept, we explored a photoinduced PEG deshielding nanocarrier TK-NP Ce6&PTX to circumvent the aforementioned challenge. The TK-NP Ce6&PTX encapsulating chlorin e6 (Ce6) and paclitaxel (PTX) was self-assembled from an innovative thioketal (TK) linkage-bridged diblock copolymer of PEG with poly(d,l-lactic acid) (PEG-TK-PLA). We demonstrated that the high PEGylation of TK-NP Ce6&PTX in blood helps the nanocarrier efficiently avoid rapid clearance and consequently prolongs its circulation time. At the desired site (tumor), 660-nm red light irradiation led to ROS generation in situ, which readily cleaved the TK linkage, resulting in PEG deshielding. Such photoinduced PEG deshielding at the desired site significantly enhances the cellular uptake of the nanocarriers, achieving on-demand drug delivery and superior therapeutic efficacy. More importantly, this strategy of photoinducing PEG deshielding of nanocarriers could potentially extend to a variety of therapeutic agents beyond anticancer drugs for on-demand delivery. Copyright © 2018 Elsevier Ltd. All rights reserved.

A Complex 6p25 Rearrangement in a Child With Multiple Epiphyseal Dysplasia

PubMed Central

Bedoyan, Jirair K.; Lesperance, Marci M.; Ackley, Todd; Iyer, Ramaswamy K.; Innis, Jeffrey W.; Misra, Vinod K.

2015-01-01

Genomic rearrangements are increasingly recognized as important contributors to human disease. Here we report on an 11½-year-old child with myopia, Duane retraction syndrome, bilateral mixed hearing loss, skeletal anomalies including multiple epiphyseal dysplasia, and global developmental delay, and a complex 6p25 genomic rearrangement. We have employed oligonucleotide-based comparative genomic hybridization arrays (aCGH) of different resolutions (44 and 244K) as well as a 1 M single nucleotide polymorphism (SNP) array to analyze this complex rearrangement. Our analyses reveal a complex rearrangement involving a ~2.21 Mb interstitial deletion, a ~240 kb terminal deletion, and a 70–80 kb region in between these two deletions that shows maintenance of genomic copy number. The interstitial deletion contains eight known genes, including three Forkhead box containing (FOX) transcription factors (FOXQ1, FOXF2, and FOXC1). The region maintaining genomic copy number partly overlaps the dual specificity protein phosphatase 22 (DUSP22) gene. Array analyses suggest a homozygous loss of genomic material at the 5′ end of DUSP22, which was corroborated using TaqMan® copy number analysis. It is possible that this homozygous genomic loss may render both copies of DUSP22 or its products non-functional. Our analysis suggests a rearrangement mechanism distinct from a previously reported replication-based error-prone mechanism without template switching for a specific 6p25 rearrangement with a 1.22 Mb interstitial deletion. Our study demonstrates the utility and limitations of using oligonucleotide-based aCGH and SNP array technologies of increasing resolutions in order to identify complex DNA rearrangements and gene disruptions. PMID:21204225

Transformation of follicular lymphoma to plasmablastic lymphoma with c-myc gene rearrangement.

PubMed

Ouansafi, Ihsane; He, Bing; Fraser, Cory; Nie, Kui; Mathew, Susan; Bhanji, Rumina; Hoda, Rana; Arabadjief, Melissa; Knowles, Daniel; Cerutti, Andrea; Orazi, Attilio; Tam, Wayne

2010-12-01

Follicular lymphoma (FL) is an indolent lymphoma that transforms to high-grade lymphoma, mostly diffuse large B-cell lymphoma, in about a third of patients. We present the first report of a case of FL that transformed to plasmablastic lymphoma (PBL). Clonal transformation of the FL to PBL was evidenced by identical IGH/BCL2 gene rearrangements and VDJ gene usage in rearranged IGH genes. IGH/ BCL2 translocation was retained in the PBL, which also acquired c-myc gene rearrangement. Genealogic analysis based on somatic hypermutation of the rearranged IGH genes of both FL and PBL suggests that transformation of the FL to PBL occurred most likely by divergent evolution from a common progenitor cell rather than direct evolution from the FL clone. Our study of this unusual case expands the histologic spectrum of FL transformation and increases our understanding of the pathogenetic mechanisms of transformation of indolent lymphomas to aggressive lymphomas.

The Manifestation of Chromosome Rearrangements in Unordered Asci of Neurospora

PubMed Central

Perkins, David D.

1974-01-01

Rapid, effective techniques have been developed for detecting and characterizing chromosome aberrations in Neurospora by visual inspection of ascospores and asci. Rearrangements that are detectable by the presence of deficient, nonblack ascospores in test crosses make up 5 to 10% of survivors after UV doses giving 10-55% survival. Over 135 rearrangements have been diagnosed by classifying unordered asci according to numbers of defective spores. (These include 15 originally identified or analyzed by other workers.) About 100 reciprocal translocations (RT's) have been confirmed and mapped genetically, involving all combinations of the seven chromosomes. Thirty-three other rearrangements generate viable nontandem duplications in meiosis. These consist of insertional translocations (IT's) (15 confirmed), and of rearrangements that involve a chromosome tip (10 translocations and 3 pericentric inversions). No inversion has been found that does not include the centromere. A reciprocal translocation was found within one population in nature. When pairs of RT's that involve the same two chromosome arms were intercrossed, viable duplications were produced if the breakpoints overlapped in such a way that pairing resembled that of insertional translocations (27 combinations).—The rapid analytical technique depends on the following. Deficiency ascospores are usually nonblack (W: "white") and inviable, while nondeficient ascospores, even those that include duplications, are black (B) and viable. Thus RT's typically produce 50% black spores, and IT's 75% black. Asci are shot spontaneously from ripe perithecia, and can be collected in large numbers as groups of eight ascospores representing unordered tetrads, which fall into five classes: 8B:0W; 6B:2W, 4B:4W, 2B:6B, 0B:8W. In isosequential crosses, 90-95% of tetrads are 8:0. When a rearrangement is heterozygous, the frequencies of tetrad classes are diagnostic of the type of rearrangement, and provide information also on the

Chromosomal Rearrangements as Barriers to Genetic Homogenization between Archaic and Modern Humans

PubMed Central

Rogers, Rebekah L.

2015-01-01

Chromosomal rearrangements, which shuffle DNA throughout the genome, are an important source of divergence across taxa. Using a paired-end read approach with Illumina sequence data for archaic humans, I identify changes in genome structure that occurred recently in human evolution. Hundreds of rearrangements indicate genomic trafficking between the sex chromosomes and autosomes, raising the possibility of sex-specific changes. Additionally, genes adjacent to genome structure changes in Neanderthals are associated with testis-specific expression, consistent with evolutionary theory that new genes commonly form with expression in the testes. I identify one case of new-gene creation through transposition from the Y chromosome to chromosome 10 that combines the 5′-end of the testis-specific gene Fank1 with previously untranscribed sequence. This new transcript experienced copy number expansion in archaic genomes, indicating rapid genomic change. Among rearrangements identified in Neanderthals, 13% are transposition of selfish genetic elements, whereas 32% appear to be ectopic exchange between repeats. In Denisovan, the pattern is similar but numbers are significantly higher with 18% of rearrangements reflecting transposition and 40% ectopic exchange between distantly related repeats. There is an excess of divergent rearrangements relative to polymorphism in Denisovan, which might result from nonuniform rates of mutation, possibly reflecting a burst of transposable element activity in the lineage that led to Denisovan. Finally, loci containing genome structure changes show diminished rates of introgression from Neanderthals into modern humans, consistent with the hypothesis that rearrangements serve as barriers to gene flow during hybridization. Together, these results suggest that this previously unidentified source of genomic variation has important biological consequences in human evolution. PMID:26399483

Exploring Photoinduced Excited State Evolution in Heterobimetallic Ru(II)-Co(III) Complexes.

PubMed

Kuhar, Korina; Fredin, Lisa A; Persson, Petter

2015-06-18

Quantum chemical calculations provide detailed theoretical information concerning key aspects of photoinduced electron and excitation transfer processes in supramolecular donor-acceptor systems, which are particularly relevant to fundamental charge separation in emerging molecular approaches for solar energy conversion. Here we use density functional theory (DFT) calculations to explore the excited state landscape of heterobimetallic Ru-Co systems with varying degrees of interaction between the two metal centers, unbound, weakly bound, and tightly bound systems. The interplay between structural and electronic factors involved in various excited state relaxation processes is examined through full optimizations of multiple charge/spin states of each of the investigated systems. Low-energy relaxed heterobimetallic states of energy transfer and excitation transfer character are characterized in terms of energy, structure, and electronic properties. These findings support the notion of efficient photoinduced charge separation from a Ru(II)-Co(III) ground state, via initial optical excitation of the Ru-center, to low-energy Ru(III)-Co(II) states. The strongly coupled system has significant involvement of the conjugated bridge, qualitatively distinguishing it from the other two weakly coupled systems. Finally, by constructing potential energy surfaces for the three systems where all charge/spin state combinations are projected onto relevant reaction coordinates, excited state decay pathways are explored.

Nonadiabatic excited-state molecular dynamics modeling of photoinduced dynamics in conjugated molecules.

PubMed

Nelson, Tammie; Fernandez-Alberti, Sebastian; Chernyak, Vladimir; Roitberg, Adrian E; Tretiak, Sergei

2011-05-12

Nonadiabatic dynamics generally defines the entire evolution of electronic excitations in optically active molecular materials. It is commonly associated with a number of fundamental and complex processes such as intraband relaxation, energy transfer, and light harvesting influenced by the spatial evolution of excitations and transformation of photoexcitation energy into electrical energy via charge separation (e.g., charge injection at interfaces). To treat ultrafast excited-state dynamics and exciton/charge transport we have developed a nonadiabatic excited-state molecular dynamics (NA-ESMD) framework incorporating quantum transitions. Our calculations rely on the use of the Collective Electronic Oscillator (CEO) package accounting for many-body effects and actual potential energy surfaces of the excited states combined with Tully's fewest switches algorithm for surface hopping for probing nonadiabatic processes. This method is applied to model the photoinduced dynamics of distyrylbenzene (a small oligomer of polyphenylene vinylene, PPV). Our analysis shows intricate details of photoinduced vibronic relaxation and identifies specific slow and fast nuclear motions that are strongly coupled to the electronic degrees of freedom, namely, torsion and bond length alternation, respectively. Nonadiabatic relaxation of the highly excited mA(g) state is predicted to occur on a femtosecond time scale at room temperature and on a picosecond time scale at low temperature.

Molecular control of pentacene/ZnO photoinduced charge transfer

NASA Astrophysics Data System (ADS)

Spalenka, Josef W.; Paoprasert, Peerasak; Franking, Ryan; Hamers, Robert J.; Gopalan, Padma; Evans, Paul G.

2011-03-01

Photoinduced charge transfer modifies the device properties of illuminated pentacene field effect transistors (FETs) incorporating ZnO quantum dots at the gate insulator/pentacene interface. The transferred charge is trapped on electronic states associated with the ZnO quantum dots, with a steady state population approximately proportional to the rate of organic-inorganic charge transfer. Trapped charge shifts the threshold voltage of the FETs, providing the means to evaluate the rate of organic/inorganic charge transfer and the effects of interface modification. Monolayers of the wide-gap alkane stearic acid and the conjugated oligomer terthiophene attached to the ZnO suppress or permit charge transfer, respectively.

Reversion of left ventricular systolic dysfunction and abnormal stress test: by catheter ablation, in a patient with Wolff-Parkinson-White syndrome from Para-Hisian Kent bundle.

PubMed

Tu, Chung-Ming; Chu, Kai-Ming; Cheng, Cheng-Chung; Cheng, Shu-Mung; Lin, Wei-Shiang

2010-01-01

The diagnosis of Wolff-Parkinson-White syndrome is typically reserved for patients who experience ventricular pre-excitation and symptoms that are related to paroxysmal supraventricular tachycardia, such as chest pain, dyspnea, dizziness, palpitations, or syncope. Herein, we report the case of a 38-year-old woman who presented at our outpatient department because of exercise intolerance. Cardiac auscultation revealed a grade 2/6 pansystolic murmur over the left lower sternal border. Twelve-lead electrocardiography showed sinus rhythm at a rate of 76 beats/min, with a significant delta wave. Transthoracic echocardiography revealed abnormal left ventricular systolic function. The results of a thallium stress test were also abnormal. Coronary artery disease was suspected; however, coronary angiography yielded normal results. Electrophysiologic study revealed a para-Hisian Kent bundle and a dual atrioventricular nodal pathway. After radiofrequency catheter ablation was performed, the patient's left ventricular function improved and her symptoms disappeared. In Wolff-Parkinson-White syndrome, left ventricular systolic dyssynchrony can yield abnormal findings on echocardiography and thallium scanning--even in persons who have no cardiovascular risk factors. Physicians who are armed with this knowledge can avoid performing coronary angiography unnecessarily. Catheter ablation can reverse the dyssynchrony of the ventricle and improve the patient's symptoms.

Detection of circulating tumor cells harboring a unique ALK rearrangement in ALK-positive non-small-cell lung cancer.

PubMed

Pailler, Emma; Adam, Julien; Barthélémy, Amélie; Oulhen, Marianne; Auger, Nathalie; Valent, Alexander; Borget, Isabelle; Planchard, David; Taylor, Melissa; André, Fabrice; Soria, Jean Charles; Vielh, Philippe; Besse, Benjamin; Farace, Françoise

2013-06-20

The diagnostic test for ALK rearrangement in non-small-cell lung cancer (NSCLC) for crizotinib treatment is currently done on tumor biopsies or fine-needle aspirations. We evaluated whether ALK rearrangement diagnosis could be performed by using circulating tumor cells (CTCs). The presence of an ALK rearrangement was examined in CTCs of 18 ALK-positive and 14 ALK-negative patients by using a filtration enrichment technique and filter-adapted fluorescent in situ hybridization (FA-FISH), a FISH method optimized for filters. ALK-rearrangement patterns were determined in CTCs and compared with those present in tumor biopsies. ALK-rearranged CTCs and tumor specimens were characterized for epithelial (cytokeratins, E-cadherin) and mesenchymal (vimentin, N-cadherin) marker expression. ALK-rearranged CTCs were monitored in five patients treated with crizotinib. All ALK-positive patients had four or more ALK-rearranged CTCs per 1 mL of blood (median, nine CTCs per 1 mL; range, four to 34 CTCs per 1 mL). No or only one ALK-rearranged CTC (median, one per 1 mL; range, zero to one per 1 mL) was detected in ALK-negative patients. ALK-rearranged CTCs harbored a unique (3'5') split pattern, and heterogeneous patterns (3'5', only 3') of splits were present in tumors. ALK-rearranged CTCs expressed a mesenchymal phenotype contrasting with heterogeneous epithelial and mesenchymal marker expressions in tumors. Variations in ALK-rearranged CTC levels were detected in patients being treated with crizotinib. ALK rearrangement can be detected in CTCs of patients with ALK-positive NSCLC by using a filtration technique and FA-FISH, enabling both diagnostic testing and monitoring of crizotinib treatment. Our results suggest that CTCs harboring a unique ALK rearrangement and mesenchymal phenotype may arise from clonal selection of tumor cells that have acquired the potential to drive metastatic progression of ALK-positive NSCLC.

Chromosome-specific staining to detect genetic rearrangements

DOEpatents

Gray, Joe W.; Pinkel, Daniel; Tkachuk, Douglas; Westbrook, Carol

2013-04-09

Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyzes. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods and reagents are provided for the detection of genetic rearrangements. Probes and test kits are provided for use in detecting genetic rearrangements, particularly for use in tumor cytogenetics, in the detection of disease related loci, specifically cancer, such as chronic myelogenous leukemia (CML) and for biological dosimetry. Methods and reagents are described for cytogenetic research, for the differentiation of cytogenetically similar but genetically different diseases, and for many prognostic and diagnostic applications.

Visualization of a stable intermediate phase in photoinduced metal-to-insulator transition in manganites

NASA Astrophysics Data System (ADS)

Lin, Hanxuan; Liu, Hao; Bai, Yu; Miao, Tian; Yu, Yang; Zhu, Yinyan; Chen, Hongyan; Kou, Yunfang; Niu, Jiebin; Wang, Wenbin; Yin, Lifeng; Shen, Jian

First order metal-insulator transition, accounting for various intriguing phenomena, is one of the most important phase transitions in condensed matter systems. Aside from the initial and final states, i.e. the metallic and insulating phases, no stable intermediate phase has been experimentally identified in such first order phase transition, though some transient phases do exist at the ultrafast time scale. Here, using our unique low-temperature, high-field magnetic force microscopy with photoexcitation, we directly observed a stable intermediate phase emerging and mediating the photoinduced first order metal-insulator transition in manganites. This phase is characteristic of low net magnetization and high resistivity. Our observations unveil the microscopic details of the photoinduced metal-insulator transition in manganites, which may be insightful to study first order metal-insulator transition in other condensed matter systems. This work was supported by National Key Research Program of China (2016YFA0300702), National Basic Research Program of China (973 Program) under the Grant No. 2013CB932901 and 2014CB921104; National Natural Science Foundation of China (11274071, 11504053).

Photoinduced electron transfer in a molecular dyad by nanosecond pump-pump-probe spectroscopy.

PubMed

Ha-Thi, M-H; Pham, V-T; Pino, T; Maslova, V; Quaranta, A; Lefumeux, C; Leibl, W; Aukauloo, A

2018-06-01

The design of robust and inexpensive molecular photocatalysts for the conversion of abundant stable molecules like H2O and CO2 into an energetic carrier is one of the major fundamental questions for scientists nowadays. The outstanding challenge is to couple single photoinduced charge separation events with the sequential accumulation of redox equivalents at the catalytic unit for performing multielectronic catalytic reactions. Herein, double excitation by nanosecond pump-pump-probe experiments was used to interrogate the photoinduced charge transfer and charge accumulation on a molecular dyad composed of a porphyrin chromophore and a ruthenium-based catalyst in the presence of a reversible electron acceptor. An accumulative charge transfer state is unattainable because of rapid reverse electron transfer to the photosensitizer upon the second excitation and the low driving force of the forward photodriven electron transfer reaction. Such a method allows the fundamental understanding of the relaxation mechanism after two sequential photon absorptions, deciphering the undesired electron transfer reactions that limit the charge accumulation efficiency. This study is a step toward the improvement of synthetic strategies of molecular photocatalysts for light-induced charge accumulation and more generally, for solar energy conversion.

Quantitative and Qualitative Changes in V-J α Rearrangements During Mouse Thymocytes Differentiation

PubMed Central

Pasqual, Nicolas; Gallagher, Maighréad; Aude-Garcia, Catherine; Loiodice, Mélanie; Thuderoz, Florence; Demongeot, Jacques; Ceredig, Rod; Marche, Patrice Noël; Jouvin-Marche, Evelyne

2002-01-01

Knowledge of the complete nucleotide sequence of the mouse TCRAD locus allows an accurate determination V-J rearrangement status. Using multiplex genomic PCR assays and real time PCR analysis, we report a comprehensive and systematic analysis of the V-J recombination of TCR α chain in normal mouse thymocytes during development. These respective qualitative and quantitative approaches give rise to four major points describing the control of gene rearrangements. (a) The V-J recombination pattern is not random during ontogeny and generates a limited TCR α repertoire; (b) V-J rearrangement control is intrinsic to the thymus; (c) each V gene rearranges to a set of contiguous J segments with a gaussian-like frequency; (d) there are more rearrangements involving V genes at the 3′ side than 5′ end of V region. Taken together, this reflects a preferential association of V and J gene segments according to their respective positions in the locus, indicating that accessibility of both V and J regions is coordinately regulated, but in different ways. These results provide a new insight into TCR α repertoire size and suggest a scenario for V usage during differentiation. PMID:12417627

A new family of nucleophiles for photoinduced, copper-catalyzed cross-couplings via single-electron transfer: reactions of thiols with aryl halides under mild conditions (O °C).

PubMed

Uyeda, Christopher; Tan, Yichen; Fu, Gregory C; Peters, Jonas C

2013-06-26

Building on the known photophysical properties of well-defined copper-carbazolide complexes, we have recently described photoinduced, copper-catalyzed N-arylations and N-alkylations of carbazoles. Until now, there have been no examples of the use of other families of heteroatom nucleophiles in such photoinduced processes. Herein, we report a versatile photoinduced, copper-catalyzed method for coupling aryl thiols with aryl halides, wherein a single set of reaction conditions, using inexpensive CuI as a precatalyst without the need for an added ligand, is effective for a wide range of coupling partners. As far as we are aware, copper-catalyzed C-S cross-couplings at 0 °C have not previously been achieved, which renders our observation of efficient reaction of an unactivated aryl iodide at -40 °C especially striking. Mechanistic investigations are consistent with these photoinduced C-S cross-couplings following a SET/radical pathway for C-X bond cleavage (via a Cu(I)-thiolate), which contrasts with nonphotoinduced, copper-catalyzed processes wherein a concerted mechanism is believed to occur.

Probable Association of Tachyarrhythmia With Nebulized Albuterol in a Child With Previously Subclinical Wolff Parkinson White Syndrome

PubMed Central

Kroesen, Michiel; Maseland, Machiel; Smal, Jaime; Reimer, Annet; van Setten, Petra

2012-01-01

We present the case of a 2-year-old asthmatic boy with atrioventricular (AV)-reentry tachycardia following albuterol inhalation, who was later diagnosed with Wolff-Parkinson-White (WPW) syndrome. The Naranjo adverse drug reaction probability scale score for this adverse event was 7, indicating that the association between his AV-reentry tachycardia and inhalation of albuterol is probable. To our knowledge, this is the first case report that shows the potential arrhythmogenic effects of albuterol in a child with WPW syndrome. We urge clinicians to be aware of this potentially life-threatening adverse effect and to closely monitor these patients when they need beta-adrenergic drugs in case of emergency. Furthermore, this report highlights the dilemma regarding the safe treatment of pediatric patients with both asthma and WPW syndrome. PMID:23118663

High level of chromosomal instability in circulating tumor cells of ROS1-rearranged non-small-cell lung cancer.

PubMed

Pailler, E; Auger, N; Lindsay, C R; Vielh, P; Islas-Morris-Hernandez, A; Borget, I; Ngo-Camus, M; Planchard, D; Soria, J-C; Besse, B; Farace, F

2015-07-01

Genetic aberrations affecting the c-ros oncogene 1 (ROS1) tyrosine kinase gene have been reported in a small subset of patients with non-small-cell lung cancer (NSCLC). We evaluated whether ROS1-chromosomal rearrangements could be detected in circulating tumor cells (CTCs) and examined tumor heterogeneity of CTCs and tumor biopsies in ROS1-rearranged NSCLC patients. Using isolation by size of epithelial tumor cells (ISET) filtration and filter-adapted-fluorescence in situ hybridization (FA-FISH), ROS1 rearrangement was examined in CTCs from four ROS1-rearranged patients treated with the ROS1-inhibitor, crizotinib, and four ROS1-negative patients. ROS1-gene alterations observed in CTCs at baseline from ROS1-rearranged patients were compared with those present in tumor biopsies and in CTCs during crizotinib treatment. Numerical chromosomal instability (CIN) of CTCs was assessed by DNA content quantification and chromosome enumeration. ROS1 rearrangement was detected in the CTCs of all four patients with ROS1 rearrangement previously confirmed by tumor biopsy. In ROS1-rearranged patients, median number of ROS1-rearranged CTCs at baseline was 34.5 per 3 ml blood (range, 24-55). In ROS1-negative patients, median background hybridization of ROS1-rearranged CTCs was 7.5 per 3 ml blood (range, 7-11). Tumor heterogeneity, assessed by ROS1 copy number, was significantly higher in baseline CTCs compared with paired tumor biopsies in the three patients experiencing PR or SD (P < 0.0001). Copy number in ROS1-rearranged CTCs increased significantly in two patients who progressed during crizotinib treatment (P < 0.02). CTCs from ROS1-rearranged patients had a high DNA content and gain of chromosomes, indicating high levels of aneuploidy and numerical CIN. We provide the first proof-of-concept that CTCs can be used for noninvasive and sensitive detection of ROS1 rearrangement in NSCLC patients. CTCs from ROS1-rearranged patients show considerable heterogeneity of ROS1-gene

High level of chromosomal instability in circulating tumor cells of ROS1-rearranged non-small-cell lung cancer

PubMed Central

Pailler, E.; Auger, N.; Lindsay, C. R.; Vielh, P.; Islas-Morris-Hernandez, A.; Borget, I.; Ngo-Camus, M.; Planchard, D.; Soria, J.-C.; Besse, B.; Farace, F.

2015-01-01

Background Genetic aberrations affecting the c-ros oncogene 1 (ROS1) tyrosine kinase gene have been reported in a small subset of patients with non-small-cell lung cancer (NSCLC). We evaluated whether ROS1-chromosomal rearrangements could be detected in circulating tumor cells (CTCs) and examined tumor heterogeneity of CTCs and tumor biopsies in ROS1-rearranged NSCLC patients. Patients and methods Using isolation by size of epithelial tumor cells (ISET) filtration and filter-adapted-fluorescence in situ hybridization (FA-FISH), ROS1 rearrangement was examined in CTCs from four ROS1-rearranged patients treated with the ROS1-inhibitor, crizotinib, and four ROS1-negative patients. ROS1-gene alterations observed in CTCs at baseline from ROS1-rearranged patients were compared with those present in tumor biopsies and in CTCs during crizotinib treatment. Numerical chromosomal instability (CIN) of CTCs was assessed by DNA content quantification and chromosome enumeration. Results ROS1 rearrangement was detected in the CTCs of all four patients with ROS1 rearrangement previously confirmed by tumor biopsy. In ROS1-rearranged patients, median number of ROS1-rearranged CTCs at baseline was 34.5 per 3 ml blood (range, 24–55). In ROS1-negative patients, median background hybridization of ROS1-rearranged CTCs was 7.5 per 3 ml blood (range, 7–11). Tumor heterogeneity, assessed by ROS1 copy number, was significantly higher in baseline CTCs compared with paired tumor biopsies in the three patients experiencing PR or SD (P < 0.0001). Copy number in ROS1-rearranged CTCs increased significantly in two patients who progressed during crizotinib treatment (P < 0.02). CTCs from ROS1-rearranged patients had a high DNA content and gain of chromosomes, indicating high levels of aneuploidy and numerical CIN. Conclusion We provide the first proof-of-concept that CTCs can be used for noninvasive and sensitive detection of ROS1 rearrangement in NSCLC patients. CTCs from ROS1-rearranged

Procedure for quantitative determination of effectiveness of photoinduced destruction of malignant tumors

NASA Astrophysics Data System (ADS)

Bizyuk, S. A.; Istomin, Yu. P.; Dzhagarov, B. M.

2006-07-01

We have developed a procedure for analysis of the functional status of blood vessels in tumor tissues using computer-assisted color scanning of tumor slices and also for a quantitative assessment of the effectiveness of photoinduced destruction of tumor tissues in animal experiments. Its major advantage is direct determination of the size of the tumor necrosis zone. The procedure has been tested in an experiment on three strains of malignant tumors with different morphologies.

Electrophysiology testing and catheter ablation are helpful when evaluating asymptomatic patients with Wolff-Parkinson-White pattern: the con perspective.

PubMed

Skanes, Allan C; Obeyesekere, Manoj; Klein, George J

2015-09-01

The association between asymptomatic Wolff-Parkinson-White (WPW) syndrome and sudden cardiac death (SCD) has been well documented. The inherent properties of the accessory pathway determine the risk of SCD in WPW, and catheter ablation essentially eliminates this risk. An approach to WPW syndrome is needed that incorporates the patient's individualized considerations into the decision making. Patients must understand that there is a trade-off of a small immediate risk of an invasive approach for elimination of a small lifetime risk of the natural history of asymptomatic WPW. Clinicians can minimize the invasive risk by only performing ablation for patients with at-risk pathways. Copyright © 2015 Elsevier Inc. All rights reserved.

Selenium-mediated synthesis of biaryls through rearrangement.

PubMed

Shahzad, Sohail A; Vivant, Clotilde; Wirth, Thomas

2010-03-19

A new cyclization of beta-keto ester substituted stilbene derivatives using selenium electrophiles in the presence of Lewis acids is described. Substituted naphthols are obtained through cyclization and subsequent 1,2-rearrangement of aryl groups under very mild reaction conditions.

Polarization holograms in a bifunctional amorphous polymer exhibiting equal values of photoinduced linear and circular birefringences.

PubMed

Provenzano, Clementina; Pagliusi, Pasquale; Cipparrone, Gabriella; Royes, Jorge; Piñol, Milagros; Oriol, Luis

2014-10-09

Light-controlled molecular alignment is a flexible and useful strategy introducing novelty in the fields of mechanics, self-organized structuring, mass transport, optics, and photonics and addressing the development of smart optical devices. Azobenzene-containing polymers are well-known photocontrollable materials with large and reversible photoinduced optical anisotropies. The vectorial holography applied to these materials enables peculiar optical devices whose properties strongly depend on the relative values of the photoinduced birefringences. Here is reported a polarization holographic recording based on the interference of two waves with orthogonal linear polarization on a bifunctional amorphous polymer that, exceptionally, exhibits equal values of linear and circular birefringence. The peculiar photoresponse of the material coupled with the holographic technique demonstrates an optical device capable of decomposing the light into a set of orthogonally polarized linear components. The holographic structures are theoretically described by the Jones matrices method and experimentally investigated.

Major pathologic response to alectinib in ALK-rearranged adenocarcinoma of the lung.

PubMed

Imanishi, Naoko; Yoneda, Kazue; Taira, Akihiro; Ichiki, Yoshinobu; Sato, Naoko; Hisaoka, Masanori; Tanaka, Fumihiro

2018-03-09

Alectinib is a highly selective tyrosine kinase inhibitor of anaplastic lymphoma kinase (ALK) and provided a significantly prolonged progression-free survival compared with chemotherapy in patients with advanced non-small cell lung cancer (NSCLC) harboring rearrangements of the ALK gene. Here, we present the first surgical case of ALK-rearranged lung adenocarcinoma with major pathological response in resected specimens after treatment with alectinib. A 65-year-old female with clinical stage IIIA-N2 ALK-rearranged adenocarcinoma originating from the left lower lobe presented. Involvement of lower para-tracheal node was pathologically confirmed by endobronchial ultrasound-guided biopsy. Alectinib was prescribed, as the patient may not tolerate radiotherapy due to a mental illness. After 3 months' treatment with alectinib, a remarkable radiological and metabolic response was achieved. The patient did not tolerate further continuation of alectinib treatment, and surgery was performed without any morbidity. Only < 10% tumor cells were viable in all resected specimens, indicating major pathological response to alectinib. Salvage surgery after alectinib treatment may be safe and effective for initially unresectable NSCLC harboring ALK-rearrangements.

Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.

PubMed

Nouira, Sonia; Ouarda, Fatma; Charfeddine, Cherine; Arfa, Imen; Ouragini, Houyem; Abid, Fekria; Abdelhak, Sonia

2010-01-01

Wolff-Parkinson-White (WPW) syndrome is an autosomal-dominant heart disease characterized by an accessory pathway that arises from an aberrant conduction from the atria to the ventricles. Several mutations within the PRKAG2 gene were shown to be responsible for WPW. This gene encodes the γ2 regulatory subunit of adenosine monophosphate (AMP)-activated protein kinase, which functions as a metabolic sensor in cells, responding to cellular energy demands. This first study of WPW in a North African population comprises the clinical and genetic investigation of 3 Tunisian families, including 11 affected members. The involvement of the PRKAG2 and NKX2-5 genes was investigated. Mutation screening showed that with the exception of two already reported single-nucleotide polymorphisms, no mutations were detected within the coding region of PRKAG2 or in the NKX2-5 gene. This study provides further evidence of the genetic heterogeneity of WPW. Copyright © 2010 Elsevier Inc. All rights reserved.

Surgical treatment of Wolff-Parkinson-White syndrome: epicardial approach without the use of cardiopulmonary bypass.

PubMed

Graffigna, A; Pagani, F; Vigano, M

1993-03-01

Epicardial dissection without the use of cardiopulmonary bypass (CPB) was performed in 88 patients (56 males and 32 females, mean age 31.9 years). With intraoperative epicardial mapping, 101 accessory pathways were detected, with multiple pathways in 11 patients. CPB was avoided in all but one patient due to frequent onset of atrial fibrillation with rapid ventricular rate. Surgical ablation was successful in 86 patients (97.6%). Three patients required multiple surgical procedures because of persistence of conduction along a component of the original pathway. All but two patients were discharged without antiarrhythmic medication; these two patients were given quinidine therapy because of atrial fibrillation, but had normal early and late electrophysiological studies. Surgical ablation of Kent bundles by the epicardial approach for the treatment of Wolff-Parkinson-White syndrome can be achieved without the use of CPB. Optimal and steady exposure of the area are mandatory for the procedure, and dissection is eased by avoidance of heparin required for CPB.

Clinical features of squamous cell lung cancer with anaplastic lymphoma kinase (ALK)-rearrangement: a retrospective analysis and review

PubMed Central

Watanabe, Junko; Togo, Shinsaku; Sumiyoshi, Issei; Namba, Yukiko; Suina, Kentaro; Mizuno, Takafumi; Kadoya, Kotaro; Motomura, Hiroaki; Iwai, Moe; Nagaoka, Tetsutaro; Sasaki, Shinichi; Hayashi, Takuo; Uekusa, Toshimasa; Abe, Kanae; Urata, Yasuo; Sakurai, Fuminori; Mizuguchi, Hiroyuki; Kato, Shunsuke; Takahashi, Kazuhisa

2018-01-01

Anti-anaplastic lymphoma kinase (ALK)-targeted therapy dramatically improves therapeutic responses in patients with ALK-rearranged lung adenocarcinoma (Ad-LC). A few cases of squamous cell lung carcinoma (Sq-LC) with ALK rearrangement have been reported; however, the clinicopathological features and clinical outcomes following treatment with ALK inhibitors are unknown. We addressed this in the present study by retrospectively comparing the clinical characteristics of five patients with ALK-rearranged Sq-LC with those of patients with ALK-rearranged Ad-LC and by evaluating representative cases of ALK inhibitor responders and non-responders. The prevalence of ALK rearrangement in Sq-LCs was 1.36%. Progression-free survival (PFS) after initial treatment with crizotinib was significantly shorter in Sq-LC than in Ad-LC with ALK rearrangement (p = 0.033). Two ALK rearrangements assayed by fluorescence in situ hybridization (FISH)-positive/immunohistochemistry-negative cases did not respond to crizotinb, and PFS decreased following alectinib treatment of ALK-rearranged Sq-LC (p = 0.045). A rebiopsy revealed that responders to ceritinib harbored the L1196M mutation, which causes resistance to other ALK inhibitors. However, non-responders were resistant to all ALK inhibitors, despite the presence of ALK rearrangement in FISH-positive circulating tumor cells and circulating free DNA and absence of the ALK inhibitor resistance mutation. These results indicate that ALK inhibitors remain a reasonable therapeutic option for ALK-rearranged Sq-LC patients who have worse outcomes than ALK-rearranged Ad-LC patients and that resistance mechanisms are heterogeneous. Additionally, oncologists should be aware of the possibility of ALK-rearranged Sq-LC based on clinicopathological features, and plan second-line therapeutic strategies based on rebiopsy results in order to improve patient outcome. PMID:29844868

Clinical features of squamous cell lung cancer with anaplastic lymphoma kinase (ALK)-rearrangement: a retrospective analysis and review.

PubMed

Watanabe, Junko; Togo, Shinsaku; Sumiyoshi, Issei; Namba, Yukiko; Suina, Kentaro; Mizuno, Takafumi; Kadoya, Kotaro; Motomura, Hiroaki; Iwai, Moe; Nagaoka, Tetsutaro; Sasaki, Shinichi; Hayashi, Takuo; Uekusa, Toshimasa; Abe, Kanae; Urata, Yasuo; Sakurai, Fuminori; Mizuguchi, Hiroyuki; Kato, Shunsuke; Takahashi, Kazuhisa

2018-05-08

Anti-anaplastic lymphoma kinase (ALK)-targeted therapy dramatically improves therapeutic responses in patients with ALK-rearranged lung adenocarcinoma (Ad-LC). A few cases of squamous cell lung carcinoma (Sq-LC) with ALK rearrangement have been reported; however, the clinicopathological features and clinical outcomes following treatment with ALK inhibitors are unknown. We addressed this in the present study by retrospectively comparing the clinical characteristics of five patients with ALK-rearranged Sq-LC with those of patients with ALK-rearranged Ad-LC and by evaluating representative cases of ALK inhibitor responders and non-responders. The prevalence of ALK rearrangement in Sq-LCs was 1.36%. Progression-free survival (PFS) after initial treatment with crizotinib was significantly shorter in Sq-LC than in Ad-LC with ALK rearrangement ( p = 0.033). Two ALK rearrangements assayed by fluorescence in situ hybridization (FISH)-positive/immunohistochemistry-negative cases did not respond to crizotinb, and PFS decreased following alectinib treatment of ALK-rearranged Sq-LC ( p = 0.045). A rebiopsy revealed that responders to ceritinib harbored the L1196M mutation, which causes resistance to other ALK inhibitors. However, non-responders were resistant to all ALK inhibitors, despite the presence of ALK rearrangement in FISH-positive circulating tumor cells and circulating free DNA and absence of the ALK inhibitor resistance mutation. These results indicate that ALK inhibitors remain a reasonable therapeutic option for ALK-rearranged Sq-LC patients who have worse outcomes than ALK-rearranged Ad-LC patients and that resistance mechanisms are heterogeneous. Additionally, oncologists should be aware of the possibility of ALK-rearranged Sq-LC based on clinicopathological features, and plan second-line therapeutic strategies based on rebiopsy results in order to improve patient outcome.

Photoinduced Electron Transfer Based Ion Sensing within an Optical Fiber

PubMed Central

Englich, Florian V.; Foo, Tze Cheung; Richardson, Andrew C.; Ebendorff-Heidepriem, Heike; Sumby, Christopher J.; Monro, Tanya M.

2011-01-01

We combine suspended-core microstructured optical fibers with the photoinduced electron transfer (PET) effect to demonstrate a new type of fluorescent optical fiber-dip sensing platform for small volume ion detection. A sensor design based on a simple model PET-fluoroionophore system and small core microstructured optical fiber capable of detecting sodium ions is demonstrated. The performance of the dip sensor operating in a high sodium concentration regime (925 ppm Na+) and for lower sodium concentration environments (18.4 ppm Na+) is explored and future approaches to improving the sensor’s signal stability, sensitivity and selectivity are discussed. PMID:22163712

Chromosomal rearrangements maintain a polymorphic supergene controlling butterfly mimicry

PubMed Central

Joron, Mathieu; Frezal, Lise; Jones, Robert T.; Chamberlain, Nicola L.; Lee, Siu F.; Haag, Christoph R.; Whibley, Annabel; Becuwe, Michel; Baxter, Simon W.; Ferguson, Laura; Wilkinson, Paul A.; Salazar, Camilo; Davidson, Claire; Clark, Richard; Quail, Michael A.; Beasley, Helen; Glithero, Rebecca; Lloyd, Christine; Sims, Sarah; Jones, Matthew C.; Rogers, Jane; Jiggins, Chris D.; ffrench-Constant, Richard H.

2013-01-01

Supergenes are tight clusters of loci that facilitate the co-segregation of adaptive variation, providing integrated control of complex adaptive phenotypes1. Polymorphic supergenes, in which specific combinations of traits are maintained within a single population, were first described for ‘pin’ and ‘thrum’ floral types in Primula1 and Fagopyrum2, but classic examples are also found in insect mimicry3–5 and snail morphology6. Understanding the evolutionary mechanisms that generate these co-adapted gene sets, as well as the mode of limiting the production of unfit recombinant forms, remains a substantial challenge7–10. Here we show that individual wing-pattern morphs in the polymorphic mimetic butterfly Heliconius numata are associated with different genomic rearrangements at the supergene locus P. These rearrangements tighten the genetic linkage between at least two colour-pattern loci that are known to recombine in closely related species9–11, with complete suppression of recombination being observed in experimental crosses across a 400-kilobase interval containing at least 18 genes. In natural populations, notable patterns of linkage disequilibrium (LD) are observed across the entire P region. The resulting divergent haplotype clades and inversion breakpoints are found in complete association with wing-pattern morphs. Our results indicate that allelic combinations at known wing-patterning loci have become locked together in a polymorphic rearrangement at the Plocus, forming a supergene that acts as a simple switch between complex adaptive phenotypes found in sympatry. These findings highlight how genomic rearrangements can have a central role in the coexistence of adaptive phenotypes involving several genes acting in concert, by locally limiting recombination and gene flow. PMID:21841803

Clonal immunoglobulin heavy chain and T-cell receptor γ gene rearrangements in primary gastric lymphoma.

PubMed

Shan, Guo-Dong; Hu, Feng-Ling; Yang, Ming; Chen, Hong-Tan; Chen, Wen-Guo; Wang, Yun-Gui; Chen, Li-Hua; Li, You-Ming; Xu, Guo-Qiang

2013-09-14

To study the diagnostic value of immunoglobulin heavy chain (IgH) and T-cell receptor γ (TCR-γ) gene monoclonal rearrangements in primary gastric lymphoma (PGL). A total of 48 patients with suspected PGL at our hospital were prospectively enrolled in this study from January 2009 to December 2011. The patients were divided into three groups (a PGL group, a gastric linitis plastica group, and a benign gastric ulcer group) based on the pathological results (gastric mucosal specimens obtained by endoscopy or surgery) and follow-up. Endoscopic ultrasonography (EUS) and EUS-guided biopsy were performed in all the patients. The tissue specimens were used for histopathological examination and for IgH and TCR-γ gene rearrangement polymerase chain reaction analyses. EUS and EUS-guided biopsy were successfully performed in all 48 patients. In the PGL group (n = 21), monoclonal IgH gene rearrangements were detected in 14 (66.7%) patients. A positive result for each set of primers was found in 12 (57.1%), 8 (38.1%), and 4 (19.0%) cases using FR1/JH, FR2/JH, and FR3/JH primers, respectively. Overall, 12 (75%) patients with mucosal-associated lymphoid tissue lymphoma (n = 16) and 2 (40%) patients with diffuse large B-cell lymphoma (n = 5) were positive for monoclonal IgH gene rearrangements. No patients in the gastric linitis plastica group (n = 17) and only one (10%) patient in the benign gastric ulcer group (n = 10) were positive for a monoclonal IgH gene rearrangement. No TCR-γ gene monoclonal rearrangements were detected. The sensitivity of monoclonal IgH gene rearrangements was 66.7% for a PGL diagnosis, and the specificity was 96.4%. In the PGL group, 8 (100%) patients with stage IIE PGL (n = 8) and 6 (46.1%) patients with stage IE PGL (n = 13) were positive for monoclonal IgH gene rearrangements. IgH gene rearrangements may be associated with PGL staging and may be useful for the diagnosis of PGL and for differentiating between PGL and gastric linitis plastica.

A general heuristic for genome rearrangement problems.

PubMed

Dias, Ulisses; Galvão, Gustavo Rodrigues; Lintzmayer, Carla Négri; Dias, Zanoni

2014-06-01

In this paper, we present a general heuristic for several problems in the genome rearrangement field. Our heuristic does not solve any problem directly, it is rather used to improve the solutions provided by any non-optimal algorithm that solve them. Therefore, we have implemented several algorithms described in the literature and several algorithms developed by ourselves. As a whole, we implemented 23 algorithms for 9 well known problems in the genome rearrangement field. A total of 13 algorithms were implemented for problems that use the notions of prefix and suffix operations. In addition, we worked on 5 algorithms for the classic problem of sorting by transposition and we conclude the experiments by presenting results for 3 approximation algorithms for the sorting by reversals and transpositions problem and 2 approximation algorithms for the sorting by reversals problem. Another algorithm with better approximation ratio can be found for the last genome rearrangement problem, but it is purely theoretical with no practical implementation. The algorithms we implemented in addition to our heuristic lead to the best practical results in each case. In particular, we were able to improve results on the sorting by transpositions problem, which is a very special case because many efforts have been made to generate algorithms with good results in practice and some of these algorithms provide results that equal the optimum solutions in many cases. Our source codes and benchmarks are freely available upon request from the authors so that it will be easier to compare new approaches against our results.

Internal flow inside droplets within a concentrated emulsion during droplet rearrangement

NASA Astrophysics Data System (ADS)

Leong, Chia Min; Gai, Ya; Tang, Sindy K. Y.

2018-03-01

Droplet microfluidics, in which each droplet serves as a micro-reactor, has found widespread use in high-throughput biochemical screening applications. These droplets are often concentrated at various steps to form a concentrated emulsion. As part of a serial interrogation and sorting process, such concentrated emulsions are typically injected into a tapered channel leading to a constriction that fits one drop at a time for the probing of droplet content in a serial manner. The flow physics inside the droplets under these flow conditions are not well understood but are critical for predicting and controlling the mixing of reagents inside the droplets as reactors. Here we investigate the flow field inside droplets of a concentrated emulsion flowing through a tapered microchannel using micro-particle image velocimetry. The confining geometry of the channel forces the number of rows of drops to reduce by one at specific and uniformly spaced streamwise locations, which are referred to as droplet rearrangement zones. Within each rearrangement zone, the phase-averaged velocity results show that the motion of the droplets involved in the rearrangement process, also known as a T1 event, creates vortical structures inside themselves and their adjacent droplets. These flow structures increase the circulation inside droplets up to 2.5 times the circulation in droplets at the constriction. The structures weaken outside of the rearrangement zones suggesting that the flow patterns created by the T1 process are transient. The time scale of circulation is approximately the same as the time scale of a T1 event. Outside of the rearrangement zones, flow patterns in the droplets are determined by the relative velocity between the continuous and disperse phases.

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.

PubMed

Conceição Pereira, Maria; Loureiro, José Leal; Pinto-Basto, Jorge; Brandão, Eva; Margarida Lopes, Ana; Neves, Georgina; Dias, Pureza; Geraldes, Ruth; Martins, Isabel Pavão; Cruz, Vitor Tedim; Kamsteeg, Erik-Jan; Brunner, Han G; Coutinho, Paula; Sequeiros, Jorge; Alonso, Isabel

2012-01-01

Hereditary spastic paraplegias compose a group of neurodegenerative disorders with a large clinical and genetic heterogeneity. Among the autosomal recessive forms, spastic paraplegia type 11 is the most common. To better understand the spastic paraplegia type 11 mutation spectrum, we studied a group of 54 patients with hereditary spastic paraplegia. Mutation screening was performed by PCR amplification of SPG11 coding regions and intron boundaries, followed by sequencing. For the detection of large gene rearrangements, we performed multiplex ligation-dependent probe amplification. We report 13 families with spastic paraplegia type 11 carrying either novel or previously identified mutations. We describe a complex entire SPG11 rearrangement and show that large gene rearrangements are frequent among patients with spastic paraplegia type 11. Moreover, we mapped the deletion breakpoints of three different large SPG11 deletions and provide evidence for Alu microhomology-mediated exon deletion. Our analysis shows that the high number of repeated elements in SPG11 together with the presence of recombination hotspots and the high intrinsic instability of the 15q locus all contribute toward making this genomic region more prone to large gene rearrangements. These findings enlarge the amount of data relating repeated elements with neurodegenerative disorders and highlight their importance in human disease and genome evolution.

Molecular Innovation in Ciliates with Complex Genome Rearrangements

NASA Astrophysics Data System (ADS)

Neme, R.; Landweber, L. F.

2017-07-01

We study molecular innovation in several ciliate species with unique massive genome rearrangements to understand how a radically distinct genome architecture can shape the process of acquiring new functions, genes and structures.

Photoinduced reactions of both 2-formyl-2H-azirine and isoxazole: A theoretical study based on electronic structure calculations and nonadiabatic dynamics simulations

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cao, Jun, E-mail: caojunbnu@mail.bnu.edu.cn

2015-06-28

In the present work, the combined electronic structure calculations and dynamics simulations have been performed to explore photocleavages of 2-formyl-2H-azirine and isoxazole in the gas phase and the subsequent rearrangement reactions. The carbonyl n → π{sup *} transition induces a cleavage of the C—N single bond of 2-formyl-2H-azirine to yield β-formylvinylnitrene in open-shell singlet state. However, the n → π{sup *} excitation of the imine chromophore results in a cleavage of the C—C single bond, producing a nitrile ylide intermediate through an internal conversion to the ground state. β-formylvinylnitrene and nitrile ylide with the carbonyl group are easily transformed intomore » 2-formyl-2H-azirine and oxazole, respectively. The N—O bond cleavages on both S{sub 1}({sup 1}ππ{sup *}) and S{sub 2}({sup 1}n{sub N}π{sup *}) of isoxazole are ultrafast processes, and they give products of 2-formyl-2H-azirine, 3-formylketenimine, HCN + CHCHO, and HCO + CHCHN. Both 2H-azirines and ketenimines were suggested to be formed from the triplet vinylnitrenes by intersystem crossing in the previous studies. However, our calculations show that the singlet β-formylvinylnitrene is responsible for the formation of 2-formyl-2H-azirine and 3-formylketenimine, and the singlet vinylnitrenes can play a key role in the photoinduced reactions of both 2H-azirines and isoxazoles.« less

The Robustness of a Signaling Complex to Domain Rearrangements Facilitates Network Evolution

PubMed Central

Sato, Paloma M.; Yoganathan, Kogulan; Jung, Jae H.; Peisajovich, Sergio G.

2014-01-01

The rearrangement of protein domains is known to have key roles in the evolution of signaling networks and, consequently, is a major tool used to synthetically rewire networks. However, natural mutational events leading to the creation of proteins with novel domain combinations, such as in frame fusions followed by domain loss, retrotranspositions, or translocations, to name a few, often simultaneously replace pre-existing genes. Thus, while proteins with new domain combinations may establish novel network connections, it is not clear how the concomitant deletions are tolerated. We investigated the mechanisms that enable signaling networks to tolerate domain rearrangement-mediated gene replacements. Using as a model system the yeast mitogen activated protein kinase (MAPK)-mediated mating pathway, we analyzed 92 domain-rearrangement events affecting 11 genes. Our results indicate that, while domain rearrangement events that result in the loss of catalytic activities within the signaling complex are not tolerated, domain rearrangements can drastically alter protein interactions without impairing function. This suggests that signaling complexes can maintain function even when some components are recruited to alternative sites within the complex. Furthermore, we also found that the ability of the complex to tolerate changes in interaction partners does not depend on long disordered linkers that often connect domains. Taken together, our results suggest that some signaling complexes are dynamic ensembles with loose spatial constraints that could be easily re-shaped by evolution and, therefore, are ideal targets for cellular engineering. PMID:25490747

Rapid recovery from congestive heart failure following successful radiofrequency catheter ablation in a patient with late onset of Wolff-Parkinson-White syndrome.

PubMed

Yodogawa, Kenji; Ono, Norihiko; Seino, Yoshihiko

2012-01-01

A 56-year-old man was admitted because of palpitations and dyspnea. A 12-lead electrocardiogram showed irregular wide QRS complex tachycardia with a slur at the initial portion of the QRS complex. He had preexisting long-standing persistent atrial fibrillation, but early excitation syndrome had never been noted. Chest X-ray showed heart enlargement and pulmonary congestion. He was diagnosed with late onset of Wolff-Parkinson-White syndrome, and congestive heart failure was probably caused by rapid ventricular response of atrial fibrillation through the accessory pathway. Emergency catheter ablation for the accessory pathway was undertaken, and heart failure was dramatically improved.

Synthesis of fused tricyclic systems by thermal Cope rearrangement of furan-substituted vinyl cyclopropanes.

PubMed

Klaus, Verena; Wittmann, Stéphane; Senn, Hans M; Clark, J Stephen

2018-05-15

A novel method for the stereoselective construction of hexahydroazuleno[4,5-b]furans from simple precursors has been developed. The route involves the use of our recently developed Brønsted acid catalysed cyclisation reaction of acyclic ynenones to prepare fused 1-furanyl-2-alkenylcyclopropanes that undergo highly stereoselective thermal Cope rearrangement to produce fused tricyclic products. Substrates possessing an E-alkene undergo smooth Cope rearrangement at 40 °C, whereas the corresponding Z-isomers do not react at this temperature. Computational studies have been performed to explain the difference in behaviour of the E- and Z-isomers in the Cope rearrangement reaction. The hexahydroazuleno[4,5-b]furans produced by Cope rearrangement have potential as advanced intermediates for the synthesis of members of the guaianolide family of natural products.

EVALUATION OF BIOACCUMULATION AND PHOTOINDUCED TOXICITY OF FLUORANTHENE IN LARVAL AND ADULT LIFE-STAGES OF CHIRONOMUS TENTANS

EPA Science Inventory

Laboratory sediment tests were conducted to evaluate the bioaccumulation and photoinduced toxicity of fluoranthene in larval and adult life-stages of Chironomus tentans. In the first of two experiments, fourth-instar and adult C. tentans exposed to spiked sediments were collected...

Time-resolved photoinduced thermoelectric and transport currents in GaAs nanowires.

PubMed

Prechtel, Leonhard; Padilla, Milan; Erhard, Nadine; Karl, Helmut; Abstreiter, Gerhard; Fontcuberta I Morral, Anna; Holleitner, Alexander W

2012-05-09

In order to clarify the temporal interplay of the different photocurrent mechanisms occurring in single GaAs nanowire based circuits, we introduce an on-chip photocurrent pump-probe spectroscopy with a picosecond time resolution. We identify photoinduced thermoelectric, displacement, and carrier lifetime limited currents as well as the transport of photogenerated holes to the electrodes. Moreover, we show that the time-resolved photocurrent spectroscopy can be used to investigate the drift velocity of photogenerated carriers in semiconducting nanowires. Hereby, our results are relevant for nanowire-based optoelectronic and photovoltaic applications.

Coupled-rearrangement-channels calculation of the three-body system under the absorbing boundary condition

NASA Astrophysics Data System (ADS)

Iwasaki, M.; Otani, R.; Ito, M.; Kamimura, M.

2016-05-01

We formulate the method of the absorbing boundary condition (ABC) in the coupled-rearrangement-channels variational method (CRCMV) for the three-body problem. In the present study, we handle the simple three-boson system, and the absorbing potential is introduced in the Jacobi coordinate in the individual rearrangement channels. The resonance parameters and the strength of the monopole breakup are compared with the complex scaling method (CSM). We have found that the CRCVM + ABC method nicely works in the threebody problem with the rearrangement channels.

Role of polytypism and degree of hexagonality on the photoinduced optical second harmonic generation in SiC nanocrystalline films

NASA Astrophysics Data System (ADS)

Semenov, A.; Puziko, V.; Skorik, S.; Wojciechowski, A.; Fedorchuk, A. O.; Maciąg, A.

2015-05-01

Photoinduced optiсal second harmonic generation was studied in nanocrystalline SiC films prepared by the method of direct ion deposition. For the studies were chosen three types of polytypes (with different degree of hexagonality) - 24R with degree hexagonality G=25, 27R-G=44, 33R with - G=36. The bicolor photoinduced treatment was performed by the wavelengths 1064nm/532 nm by 15 ns YAG:Nd laser. The efficiency of the output SHG was evaluated by ratio of the corresponding signal intensities with respect to the references and by the time delay between the SHG and the fundamental maxima. Explanation of the observed effect is given within a framework of the occurrence of the nano-trapping levels in the film crystalline interfaces.

Mitochondrial gene rearrangements confirm the parallel evolution of the crab-like form.

PubMed Central

Morrison, C L; Harvey, A W; Lavery, S; Tieu, K; Huang, Y; Cunningham, C W

2002-01-01

The repeated appearance of strikingly similar crab-like forms in independent decapod crustacean lineages represents a remarkable case of parallel evolution. Uncertainty surrounding the phylogenetic relationships among crab-like lineages has hampered evolutionary studies. As is often the case, aligned DNA sequences by themselves were unable to fully resolve these relationships. Four nested mitochondrial gene rearrangements--including one of the few reported movements of an arthropod protein-coding gene--are congruent with the DNA phylogeny and help to resolve a crucial node. A phylogenetic analysis of DNA sequences, and gene rearrangements, supported five independent origins of the crab-like form, and suggests that the evolution of the crab-like form may be irreversible. This result supports the utility of mitochondrial gene rearrangements in phylogenetic reconstruction. PMID:11886621

Catalytic intermolecular carbon electrophile induced semipinacol rearrangement.

PubMed

Zhang, Qing-Wei; Zhang, Xiao-Bo; Li, Bao-Sheng; Xiang, Kai; Zhang, Fu-Min; Wang, Shao-Hua; Tu, Yong-Qiang

2013-02-25

A catalytic intermolecular carbon electrophile induced semipinacol rearrangement was realized and the asymmetric version was also preliminarily accomplished with 92% and 82% ee. The complex tricyclic system architecture with four continuous stereogenic centers could be achieved from simple starting materials in a single step under mild conditions.

RNA-Mediated Epigenetic Programming of Genome Rearrangements

PubMed Central

Nowacki, Mariusz; Shetty, Keerthi; Landweber, Laura F.

2012-01-01

RNA, normally thought of as a conduit in gene expression, has a novel mode of action in ciliated protozoa. Maternal RNA templates provide both an organizing guide for DNA rearrangements and a template that can transport somatic mutations to the next generation. This opportunity for RNA-mediated genome rearrangement and DNA repair is profound in the ciliate Oxytricha, which deletes 95% of its germline genome during development in a process that severely fragments its chromosomes and then sorts and reorders the hundreds of thousands of pieces remaining. Oxytricha’s somatic nuclear genome is therefore an epigenome formed through RNA templates and signals arising from the previous generation. Furthermore, this mechanism of RNA-mediated epigenetic inheritance can function across multiple generations, and the discovery of maternal template RNA molecules has revealed new biological roles for RNA and has hinted at the power of RNA molecules to sculpt genomic information in cells. PMID:21801022

Catalytic synthesis of amides via aldoximes rearrangement.

PubMed

Crochet, Pascale; Cadierno, Victorio

2015-02-14

Amide bond formation reactions are among the most important transformations in organic chemistry because of the widespread occurrence of amides in pharmaceuticals, natural products and biologically active compounds. The Beckmann rearrangement is a well-known method to generate secondary amides from ketoximes. However, under the acidic conditions commonly employed, aldoximes RHC=NOH rarely rearrange into the corresponding primary amides RC(=O)NH2. In recent years, it was demonstrated that this atom-economical transformation can be carried out efficiently and selectively with the help of metal catalysts. Several homogeneous and heterogenous systems have been described. In addition, protocols offering the option to generate the aldoximes in situ from the corresponding aldehydes and hydroxylamine, or even from alcohols, have also been developed, as well as a series of tandem processes allowing the access to N-substituted amide products. In this Feature article a comprehensive overview of the advances achieved in this particular research area is presented.

The analysis of ALK gene rearrangement by fluorescence in situ hybridization in non-small cell lung cancer patients

PubMed Central

Krawczyk, Paweł Adam; Ramlau, Rodryg Adam; Szumiło, Justyna; Kozielski, Jerzy; Kalinka-Warzocha, Ewa; Bryl, Maciej; Knopik-Dąbrowicz, Alina; Spychalski, Łukasz; Szczęsna, Aleksandra; Rydzik, Ewelina; Milanowski, Janusz

2013-01-01

Introduction ALK gene rearrangement is observed in a small subset (3–7%) of non-small cell lung cancer (NSCLC) patients. The efficacy of crizotinib was shown in lung cancer patients harbouring ALK rearrangement. Nowadays, the analysis of ALK gene rearrangement is added to molecular examination of predictive factors. Aim of the study The frequency of ALK gene rearrangement as well as the type of its irregularity was analysed by fluorescence in situ hybridisation (FISH) in tissue samples from NSCLC patients. Material and methods The ALK gene rearrangement was analysed in 71 samples including 53 histological and 18 cytological samples. The analysis could be performed in 56 cases (78.87%), significantly more frequently in histological than in cytological materials. The encountered problem with ALK rearrangement diagnosis resulted from the scarcity of tumour cells in cytological samples, high background fluorescence noises and fragmentation of cell nuclei. Results The normal ALK copy number without gene rearrangement was observed in 26 (36.62%) patients ALK gene polysomy without gene rearrangement was observed in 25 (35.21%) samples while in 3 (4.23%) samples ALK gene amplification was found. ALK gene rearrangement was observed in 2 (2.82%) samples from males, while in the first case the rearrangement coexisted with ALK amplification. In the second case, signet-ring tumour cells were found during histopathological examination and this patient was successfully treated with crizotinib with partial remission lasting 16 months. Conclusions FISH is a useful technique for ALK gene rearrangement analysis which allows us to specify the type of gene irregularities. ALK gene examination could be performed in histological as well as cytological (cellblocks) samples, but obtaining a reliable result in cytological samples depends on the cellularity of examined materials. PMID:24592134

Spatially rearranged object parts can facilitate perception of intact whole objects.

PubMed

Cacciamani, Laura; Ayars, Alisabeth A; Peterson, Mary A

2014-01-01

The familiarity of an object depends on the spatial arrangement of its parts; when the parts are spatially rearranged, they form a novel, unrecognizable configuration. Yet the same collection of parts comprises both the familiar and novel configuration. Is it possible that the collection of familiar parts activates a representation of the intact familiar configuration even when they are spatially rearranged? We presented novel configurations as primes before test displays that assayed effects on figure-ground perception from memories of intact familiar objects. In our test displays, two equal-area regions shared a central border; one region depicted a portion of a familiar object. Previous research with such displays has shown that participants are more likely to perceive the region depicting a familiar object as the figure and the abutting region as its ground when the familiar object is depicted in its upright orientation rather than upside down. The novel primes comprised either the same or a different collection of parts as the familiar object in the test display (part-rearranged and control primes, respectively). We found that participants were more likely to perceive the familiar region as figure in upright vs. inverted displays following part-rearranged primes but not control primes. Thus, priming with a novel configuration comprising the same familiar parts as the upcoming figure-ground display facilitated orientation-dependent effects of object memories on figure assignment. Similar results were obtained when the spatially rearranged collection of parts was suggested on the groundside of the prime's border, suggesting that familiar parts in novel configurations access the representation of their corresponding intact whole object before figure assignment. These data demonstrate that familiar parts access memories of familiar objects even when they are arranged in a novel configuration.

Spatially rearranged object parts can facilitate perception of intact whole objects

PubMed Central

Cacciamani, Laura; Ayars, Alisabeth A.; Peterson, Mary A.

2014-01-01

The familiarity of an object depends on the spatial arrangement of its parts; when the parts are spatially rearranged, they form a novel, unrecognizable configuration. Yet the same collection of parts comprises both the familiar and novel configuration. Is it possible that the collection of familiar parts activates a representation of the intact familiar configuration even when they are spatially rearranged? We presented novel configurations as primes before test displays that assayed effects on figure-ground perception from memories of intact familiar objects. In our test displays, two equal-area regions shared a central border; one region depicted a portion of a familiar object. Previous research with such displays has shown that participants are more likely to perceive the region depicting a familiar object as the figure and the abutting region as its ground when the familiar object is depicted in its upright orientation rather than upside down. The novel primes comprised either the same or a different collection of parts as the familiar object in the test display (part-rearranged and control primes, respectively). We found that participants were more likely to perceive the familiar region as figure in upright vs. inverted displays following part-rearranged primes but not control primes. Thus, priming with a novel configuration comprising the same familiar parts as the upcoming figure-ground display facilitated orientation-dependent effects of object memories on figure assignment. Similar results were obtained when the spatially rearranged collection of parts was suggested on the groundside of the prime's border, suggesting that familiar parts in novel configurations access the representation of their corresponding intact whole object before figure assignment. These data demonstrate that familiar parts access memories of familiar objects even when they are arranged in a novel configuration. PMID:24904495

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.

PubMed

Oshima, Junko; Lee, Jennifer A; Breman, Amy M; Fernandes, Priscilla H; Babovic-Vuksanovic, Dusica; Ward, Patricia A; Wolfe, Lynne A; Eng, Christine M; Del Gaudio, Daniela

2011-07-01

Mucopolysaccharidosis type II (MPS II) is caused by mutations in the IDS gene, which encodes the lysosomal enzyme iduronate-2-sulfatase. In ∼20% of MPS II patients the disorder is caused by gross IDS structural rearrangements. We identified two male cases harboring complex rearrangements involving the IDS gene and the nearby pseudogene, IDSP1, which has been annotated as a low-copy repeat (LCR). In both cases the rearrangement included a partial deletion of IDS and an inverted insertion of the neighboring region. In silico analyses revealed the presence of repetitive elements as well as LCRs at the junctions of rearrangements. Our models illustrate two alternative consequences of rearrangements initiated by non-allelic homologous recombination of LCRs: resolution by a second recombination event (that is, Alu-mediated recombination), or resolution by non-homologous end joining repair. These complex rearrangements have the potential to be recurrent and may be present among those MSP II cases with previously uncharacterized aberrations involving IDS.

Photoinduced coherent acoustic phonon dynamics inside Mott insulator Sr2IrO4 films observed by femtosecond X-ray pulses

NASA Astrophysics Data System (ADS)

Zhang, Bing-Bing; Liu, Jian; Wei, Xu; Sun, Da-Rui; Jia, Quan-Jie; Li, Yuelin; Tao, Ye

2017-04-01

We investigate the transient photoexcited lattice dynamics in a layered perovskite Mott insulator Sr2IrO4 film by femtosecond X-ray diffraction using a laser plasma-based X-ray source. The ultrafast structural dynamics of Sr2IrO4 thin films are determined by observing the shift and broadening of (0012) Bragg diffraction after excitation by 1.5 eV and 3.0 eV pump photons for films with different thicknesses. The observed transient lattice response can be well interpreted as a distinct three-step dynamics due to the propagation of coherent acoustic phonons generated by photoinduced quasiparticles (QPs). Employing a normalized phonon propagation model, we found that the photoinduced angular shifts of the Bragg peak collapse into a universal curve after introducing normalized coordinates to account for different thicknesses and pump photon energies, pinpointing the origin of the lattice distortion and its early evolution. In addition, a transient photocurrent measurement indicates that the photoinduced QPs are charge neutral excitons. Mapping the phonon propagation and correlating its dynamics with the QP by ultrafast X-ray diffraction (UXRD) establish a powerful way to study electron-phonon coupling and uncover the exotic physics in strongly correlated systems under nonequilibrium conditions.

Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene.

PubMed

Peixoto, Ana; Pinheiro, Manuela; Massena, Lígia; Santos, Catarina; Pinto, Pedro; Rocha, Patrícia; Pinto, Carla; Teixeira, Manuel R

2013-02-01

To determine whether a large genomic rearrangement is actually novel and to gain insight about the mutational mechanism responsible for its occurrence, molecular characterization with breakpoint identification is mandatory. We here report the characterization of two large deletions involving the BRCA1 gene. The first rearrangement harbored a 89,664-bp deletion comprising exon 7 of the BRCA1 gene to exon 11 of the NBR1 gene (c.441+1724_oNBR1:c.1073+480del). Two highly homologous Alu elements were found in the genomic sequences flanking the deletion breakpoints. Furthermore, a 20-bp overlapping sequence at the breakpoint junction was observed, suggesting that the most likely mechanism for the occurrence of this rearrangement was nonallelic homologous recombination. The second rearrangement fully characterized at the nucleotide level was a BRCA1 exons 11-15 deletion (c.671-319_4677-578delinsAlu). The case harbored a 23,363-bp deletion with an Alu element inserted at the breakpoints of the deleted region. As the Alu element inserted belongs to a still active AluY family, the observed rearrangement could be due to an insertion-mediated deletion mechanism caused by Alu retrotransposition. To conclude, we describe the breakpoints of two novel large deletions involving the BRCA1 gene and analysis of their genomic context allowed us to gain insight about the respective mutational mechanism.

Elevated Rate of Genome Rearrangements in Radiation-Resistant Bacteria.

PubMed

Repar, Jelena; Supek, Fran; Klanjscek, Tin; Warnecke, Tobias; Zahradka, Ksenija; Zahradka, Davor

2017-04-01

A number of bacterial, archaeal, and eukaryotic species are known for their resistance to ionizing radiation. One of the challenges these species face is a potent environmental source of DNA double-strand breaks, potential drivers of genome structure evolution. Efficient and accurate DNA double-strand break repair systems have been demonstrated in several unrelated radiation-resistant species and are putative adaptations to the DNA damaging environment. Such adaptations are expected to compensate for the genome-destabilizing effect of environmental DNA damage and may be expected to result in a more conserved gene order in radiation-resistant species. However, here we show that rates of genome rearrangements, measured as loss of gene order conservation with time, are higher in radiation-resistant species in multiple, phylogenetically independent groups of bacteria. Comparison of indicators of selection for genome organization between radiation-resistant and phylogenetically matched, nonresistant species argues against tolerance to disruption of genome structure as a strategy for radiation resistance. Interestingly, an important mechanism affecting genome rearrangements in prokaryotes, the symmetrical inversions around the origin of DNA replication, shapes genome structure of both radiation-resistant and nonresistant species. In conclusion, the opposing effects of environmental DNA damage and DNA repair result in elevated rates of genome rearrangements in radiation-resistant bacteria. Copyright © 2017 Repar et al.

ROS1 rearrangement and response to crizotinib in Stage IV non-small cell lung cancer

PubMed Central

Suryavanshi, Moushumi; Panigrahi, Manoj Kumar; Kumar, Dushyant; Verma, Haristuti; Saifi, Mumtaz; Dabas, Bharti; Batra, Ullas; Doval, Dinesh; Mehta, Anurag

2017-01-01

Background: The frequency of ROS1 rearrangement in non-small cell lung cancers has been reported from 1.6% to 2.3%. Materials and Methods: We examined 105 lung adenocarcinoma patients for ROS1 rearrangement which were negative for EGFR and anaplastic lymphoma kinase. Clinical characteristics of ROS1 rearranged patients and their responses to crizotinib therapy were studied. Results: Of the 105 patients, three cases were positive for ROS1 rearrangement by fluorescence in situ hybridization analysis. All of them showed heterogeneous pattern. All the 3 ROS1-positive patients were females in their forties and started on crizotinib. All of them responded to treatment. One of them developed resistance after 3 months. Another one showed marked systemic response but central nervous system lesions progressed. The third case is doing well till date with inactive lesions on positron emission tomography scan. Conclusions: The frequency of ROS1 rearrangement is low in non-small cell lung carcinoma, but their diagnosis offers patients an opportunity to receive highly effective targeted therapies. PMID:28869223

Lecture Capture with Real-Time Rearrangement of Visual Elements: Impact on Student Performance

ERIC Educational Resources Information Center

Yu, P.-T.; Wang, B.-Y.; Su, M.-H.

2015-01-01

The primary goal of this study is to create and test a lecture-capture system that can rearrange visual elements while recording is still taking place, in such a way that student performance can be positively influenced. The system we have devised is capable of integrating and rearranging multimedia sources, including learning content, the…

Intratumor Heterogeneity of ALK-Rearrangements and Homogeneity of EGFR-Mutations in Mixed Lung Adenocarcinoma

PubMed Central

Marino, Federica Zito; Liguori, Giuseppina; Aquino, Gabriella; La Mantia, Elvira; Bosari, Silvano; Ferrero, Stefano; Rosso, Lorenzo; Gaudioso, Gabriella; De Rosa, Nicla; Scrima, Marianna; Martucci, Nicola; La Rocca, Antonello; Normanno, Nicola; Morabito, Alessandro; Rocco, Gaetano; Botti, Gerardo; Franco, Renato

2015-01-01

Background Non Small Cell Lung Cancer is a highly heterogeneous tumor. Histologic intratumor heterogeneity could be ‘major’, characterized by a single tumor showing two different histologic types, and ‘minor’, due to at least 2 different growth patterns in the same tumor. Therefore, a morphological heterogeneity could reflect an intratumor molecular heterogeneity. To date, few data are reported in literature about molecular features of the mixed adenocarcinoma. The aim of our study was to assess EGFR-mutations and ALK-rearrangements in different intratumor subtypes and/or growth patterns in a series of mixed adenocarcinomas and adenosquamous carcinomas. Methods 590 Non Small Cell Lung Carcinomas tumor samples were revised in order to select mixed adenocarcinomas with available tumor components. Finally, only 105 mixed adenocarcinomas and 17 adenosquamous carcinomas were included in the study for further analyses. Two TMAs were built selecting the different intratumor histotypes. ALK-rearrangements were detected through FISH and IHC, and EGFR-mutations were detected through IHC and confirmed by RT-PCR. Results 10/122 cases were ALK-rearranged and 7 from those 10 showing an intratumor heterogeneity of the rearrangements. 12/122 cases were EGFR-mutated, uniformly expressing the EGFR-mutated protein in all histologic components. Conclusion Our data suggests that EGFR-mutations is generally homogeneously expressed. On the contrary, ALK-rearrangement showed an intratumor heterogeneity in both mixed adenocarcinomas and adenosquamous carcinomas. The intratumor heterogeneity of ALK-rearrangements could lead to a possible impact on the therapeutic responses and the disease outcomes. PMID:26422230

MicroRNA-106b~25 cluster is upregulated in relapsed MLL-rearranged pediatric acute myeloid leukemia

PubMed Central

Verboon, Lonneke J.; Obulkasim, Askar; de Rooij, Jasmijn D.E.; Katsman, Jenny E.; Sonneveld, Edwin; Baruchel, André; Trka, Jan; Reinhardt, Dirk; Pieters, Rob; Cloos, Jacqueline; Kaspers, Gertjan J.L.; Klusmann, Jan-Henning; Zwaan, Christian Michel; Fornerod, Maarten; van den Heuvel-Eibrink, Marry M.

2016-01-01

The most important reason for therapy failure in pediatric acute myeloid leukemia (AML) is relapse. In order to identify miRNAs that contribute to the clonal evolution towards relapse in pediatric AML, miRNA expression profiling of 127 de novo pediatric AML cases were used. In the diagnostic phase, no miRNA signatures could be identified that were predictive for relapse occurrence, in a large pediatric cohort, nor in a nested mixed lineage leukemia (MLL)-rearranged pediatric cohort. AML with MLL- rearrangements are found in 15-20% of all pediatric AML samples, and reveal a relapse rate up to 50% for certain translocation partner subgroups. Therefore, microRNA expression profiling of six paired initial diagnosis-relapse MLL-rearranged pediatric AML samples (test cohort) and additional eight paired initial diagnosis-relapse samples with MLL-rearrangements (validation cohort) was performed. A list of 53 differentially expressed miRNAs was identified of which the miR-106b~25 cluster, located in intron 13 of MCM7, was the most prominent. These differentially expressed miRNAs however could not predict a relapse in de novo AML samples with MLL-rearrangements at diagnosis. Furthermore, higher mRNA expression of both MCM7 and its upstream regulator E2F1 was found in relapse samples with MLL-rearrangements. In conclusion, we identified the miR-106b~25 cluster to be upregulated in relapse pediatric AML with MLL-rearrangements. PMID:27351222

Photoinduced aging and viscosity evolution in Se-rich Ge-Se glasses

NASA Astrophysics Data System (ADS)

Gueguen, Yann; King, Ellyn A.; Keryvin, Vincent; Sangleboeuf, Jean-Christophe; Rouxel, Tanguy; Bureau, Bruno; Lucas, Pierre

2013-08-01

We propose here to investigate the non-equilibrium viscosity of Ge-Se glasses under and after light irradiation. Ge10Se90 and Ge20Se80 fibers have been aged in the dark and under ambient light, over months. During aging, both the relaxation of enthalpy and the viscosity have been investigated. The viscosity was measured by shear relaxation-recovery tests allowing the measurement of non-equilibrium viscosity. When Ge10Se90 glass fibers are aged under irradiation, a relatively fast fictive temperature decrease is observed. Concomitantly, during aging under irradiation, the non-equilibrium viscosity increases and reaches an equilibrium after two months of aging. This viscosity increase is also observed in Ge20Se80 fibers. Nevertheless, this equilibrium viscosity is far below the viscosity expected at the configurational equilibrium. As soon as the irradiation ceases, the viscosity increases almost instantaneously by about one order of magnitude. Then, if the fibers are kept in the dark, their viscosity slowly increases over months. The analysis of the shear relaxation functions shows that the aging is thermorheologically simple. On the other side, there is no simple relaxation between the shear relaxation functions measured under irradiation and those measured in the dark. These results clearly suggest that a very specific photoinduced aging process occurs under irradiation. This aging is due to photorelaxation. Nevertheless, the viscosity changes are not solely correlated to photoaging and photorelaxation. A scenario is proposed to explain all the observed viscosity evolutions under and after irradiation, on the basis of photoinduced transient defects.

Inspiring Examples in Rearrangements of Infinite Series

ERIC Educational Resources Information Center

Ramasinghe, W.

2002-01-01

Simple examples are really encouraging in the understanding of rearrangements of infinite series, since many texts and teachers provide only existence theorems. In the absence of examples, an existence theorem is just a statement and lends little confidence to understanding. Iterated sums of double series seem to have a similar spirit of…

Photoresponse and photo-induced memory effect in the organic field-effect transistor based on AlOX nanoparticles at the interface of semiconductor/dielectric

NASA Astrophysics Data System (ADS)

Cheng, Yunfei; Wang, Wu

2017-10-01

In this work, the photoresponse and photo-induced memory effect were demonstrated in an organic field-effect transistor (OFET) with semiconductor pentacene and SiO2 as the active and gate dielectric layers, respectively. By inserting AlOX nanoparticles (NPs) at the interface of pentacene/SiO2, obvious enhancing photoresponse was obtained in the OFET with the maximum responsivity and photosensitivity of about 15 A/W and 100, respectively. Moreover, the stable photoinduced memory effect was achieved in the OFET, attributing to the photogenerated electrons captured by the interface traps of the AlOX NPs/SiO2.

Probing the structural dependency of photoinduced properties of colloidal quantum dots using metal-oxide photo-active substrates.

PubMed

Patty, Kira; Sadeghi, Seyed M; Campbell, Quinn; Hamilton, Nathan; West, Robert G; Mao, Chuanbin

2014-09-21

We used photoactive substrates consisting of about 1 nm coating of a metal oxide on glass substrates to investigate the impact of the structures of colloidal quantum dots on their photophysical and photochemical properties. We showed during irradiation these substrates can interact uniquely with such quantum dots, inducing distinct forms of photo-induced processes when they have different cores, shells, or ligands. In particular, our results showed that for certain types of core-shell quantum dot structures an ultrathin layer of a metal oxide can reduce suppression of quantum efficiency of the quantum dots happening when they undergo extensive photo-oxidation. This suggests the possibility of shrinking the sizes of quantum dots without significant enhancement of their non-radiative decay rates. We show that such quantum dots are not influenced significantly by Coulomb blockade or photoionization, while those without a shell can undergo a large amount of photo-induced fluorescence enhancement via such blockade when they are in touch with the metal oxide.

Probing the structural dependency of photoinduced properties of colloidal quantum dots using metal-oxide photo-active substrates

PubMed Central

Patty, Kira; Sadeghi, Seyed M.; Campbell, Quinn; Hamilton, Nathan; West, Robert G.; Mao, Chuanbin

2014-01-01

We used photoactive substrates consisting of about 1 nm coating of a metal oxide on glass substrates to investigate the impact of the structures of colloidal quantum dots on their photophysical and photochemical properties. We showed during irradiation these substrates can interact uniquely with such quantum dots, inducing distinct forms of photo-induced processes when they have different cores, shells, or ligands. In particular, our results showed that for certain types of core-shell quantum dot structures an ultrathin layer of a metal oxide can reduce suppression of quantum efficiency of the quantum dots happening when they undergo extensive photo-oxidation. This suggests the possibility of shrinking the sizes of quantum dots without significant enhancement of their non-radiative decay rates. We show that such quantum dots are not influenced significantly by Coulomb blockade or photoionization, while those without a shell can undergo a large amount of photo-induced fluorescence enhancement via such blockade when they are in touch with the metal oxide. PMID:25316953

Covalent Linking Greatly Enhances Photoinduced Electron Transfer in Fullerene-Quantum Dot Nanocomposites: Time-Domain Ab Initio Study.

PubMed

Chaban, Vitaly V; Prezhdo, Victor V; Prezhdo, Oleg V

2013-01-03

Nonadiabatic molecular dynamics combined with time-domain density functional theory are used to study electron transfer (ET) from a CdSe quantum dot (QD) to the C60 fullerene, occurring in several types of hybrid organic/inorganic nanocomposites. By unveiling the time dependence of the ET process, we show that covalent bonding between the QD and C60 is particularly important to ensure ultrafast transmission of the excited electron from the QD photon-harvester to the C60 electron acceptor. Despite the close proximity of the donor and acceptor species provided by direct van der Waals contact, it leads to a notably weaker QD-C60 interaction than a lengthy molecular bridge. We show that the ET rate in a nonbonded mixture of QDs and C60 can be enhanced by doping. The photoinduced ET is promoted primarily by mid- and low-frequency vibrations. The study establishes the basic design principles for enhancing photoinduced charge separation in nanoscale light harvesting materials.

Image storage in coumarin-based copolymer thin films by photoinduced dimerization.

PubMed

Gindre, Denis; Iliopoulos, Konstantinos; Krupka, Oksana; Champigny, Emilie; Morille, Yohann; Sallé, Marc

2013-11-15

We report a technique to encode grayscale digital images in thin films composed of copolymers containing coumarins. A nonlinear microscopy setup was implemented and two nonlinear optical processes were used to store and read information. A third-order process (two-photon absorption) was used to photoinduce a controlled dimer-to-monomer ratio within a defined tiny volume in the material, which corresponds to each recorded bit of data. Moreover, a second-order process (second-harmonic generation) was used to read the stored information, which has been found to be highly dependent upon the monomer-to-dimer ratio.

8-Methoxypsoralen photoinduced plasmid-chromosome recombination in Saccharomyces cerevisiae using a centromeric vector.

PubMed Central

Meira, L B; Henriques, J A; Magaña-Schwencke, N

1995-01-01

The characterization of a new system to study the induction of plasmid-chromosome recombination is described. Single-stranded and double-stranded centromeric vectors bearing 8-methoxypsoralen photoinduced lesions were used to transform a wild-type yeast strain bearing the leu2-3,112 marker. Using the SSCP methodology and DNA sequencing, it was demonstrated that repair of the lesions in plasmid DNA was mainly due to conversion of the chromosomal allele to the plasmid DNA. Images PMID:7784218

Identification of a DNA Segment Exhibiting Rearrangement Modifying Effects upon Transgenic δ-deleting Elements

PubMed Central

Janowski, Karen M.; Ledbetter, Stephanie; Mayo, Matthew S.; Hockett, Richard D.

1997-01-01

Control of the rearrangement and expression of the T cell receptor α and δ chains is critical for determining T cell type. The process of δ deletion is a candidate mechanism for maintaining separation of the α and δ loci. Mice harboring a transgenic reporter δ deletion construct show α/β T cell lineage–specific use of the transgenic elements. A 48-basepair segment of DNA, termed HPS1A, when deleted from this reporter construct, loses tight lineage-specific rearrangement control of transgenic elements, with abundant rearrangements of transgenic δ-deleting elements now in γ/δ T cells. Furthermore, HPS1A augments recombination frequency of extrachromosomal substrates in an in vitro recombination assay. DNA binding proteins recognizing HPS1A have been identified and are restricted to early B and T cells, during the time of active rearrangement of endogenous TCR and immunoglobulin loci. These data are consistent with δ deletion playing an important role in maintaining separate TCR α and δ loci. PMID:9207011

Mechanism of α-ketol-type rearrangement of benzoin derivatives under basic conditions.

PubMed

Karino, Masahiro; Kubouchi, Daiki; Hamaoka, Kazuki; Umeyama, Shintaro; Yamataka, Hiroshi

2013-07-19

The mechanism of base-catalyzed rearrangement of ring-substituted benzoins in aqueous methanol was examined by kinetic and product analyses. Substituent effects on the rate and equilibrium constants revealed that the kinetic process has a different electron demand compared to the equilibrium process. Reactions in deuterated solvents showed that the rate of H/D exchange of the α-hydrogen is similar to the overall rate toward the equilibrium state. A proton-inventory experiment using partially deuterated solvents showed a linear dependence of the rate on the deuterium fraction of the solvent, indicating that only one deuterium isotope effect contributes to the overall rate process. All these results point to a mechanism in which the rearrangement is initiated by the rate-determining α-hydrogen abstraction rather than a mechanism with initial hydroxyl hydrogen abstraction as in the general α-ketol rearrangement.

Rearrangements and Yielding in Concentrated Suspensions of Hard and Soft Colloids

NASA Astrophysics Data System (ADS)

Petekidis, Georgios; Carrier, Vincent; Vlassoppoulos, Dimitris; Pusey, Peter; Ballauff, Matthias

2004-03-01

The rheology and microscopic particle rearrangements of concentrated colloidal suspensions were studied by a combination of conventional rheology and Light Scattering under shear (LS Echo). In particular we studied the rheological response and the microscopic particle dynamics under shear near and above the glass transitions concentration. Measurements were done in model hard and soft sphere particles (sterically stabilized PMMA and PS-PNIPA microgels respectively) to assess the effect of inter-particle interactions. Creep and recovery measurements and dynamic strain sweeps showed that glasses of hard particles can tolerate surprisingly large strains, up to at least 15probes the extent of irreversible particle rearrangement under oscillatory shear, verified that within their cage particles move reversibly at least up to such a strain. Such a behavior was attributed to 'cage elasticity', the ability of a particle and its neighbors to retain their relative positions within the cage under quite large distortion [1]. The onset of irreversible rearrangements measured by LS echo decreased with decreasing frequency revealing an interplay between shear and Brownian forces. The effects of interparticle interactions were studied using soft thermoreversible migrogel particles where a glass state may be reached either increasing the particle concentration or decreasing the temperature. Here, although particle rearrangements appear to be reversible up to strains as high as 100sweep is observed at much lower strains. [1] G. Petekidis, D. Vlassopoulos and P.N. Pusey, Faraday Discuss., 123, 287 (2003)

INTEGRATED AND FIBER OPTICS: Threshold of photoinduced conversion of the polarization of radiation in lithium niobate optical waveguides

NASA Astrophysics Data System (ADS)

Kazanskiĭ, P. G.

1989-02-01

A threshold of photoinduced conversion of an ordinary wave into an extraordinary one was discovered for lithium niobate optical waveguides. The threshold intensity of the radiation was determined for waveguides prepared under different conditions. The experimental results were compared with theoretical estimates.

PHOTO-INDUCED POLYCYCLIC AROMATIC HYDROCARBON TOXIC POTENTIALS OF NEAR SHORE LARVAL FISH HABITAT IN THE GREAT LAKES, USA

EPA Science Inventory

Photo-induced toxicity (PIT) of polycyclic aromatic hydrocarbons (PAH) has been documented in laboratory studies for both invertebrate and vertebrate aquatic organisms. PIT has not been verified in field studies for larval fish to date. Filtered water samples and larval fish were...

The Basel Problem as a Rearrangement of Series

ERIC Educational Resources Information Center

Benko, David; Molokach, John

2013-01-01

We give an elementary solution to the famous Basel Problem, originally solved by Euler in 1735. We square the well-known series for arctan(1) due to Leibniz, and use a surprising relation among the re-arranged terms of this squared series.

Targeted next-generation sequencing at copy-number breakpoints for personalized analysis of rearranged ends in solid tumors.

PubMed

Kim, Hyun-Kyoung; Park, Won Cheol; Lee, Kwang Man; Hwang, Hai-Li; Park, Seong-Yeol; Sorn, Sungbin; Chandra, Vishal; Kim, Kwang Gi; Yoon, Woong-Bae; Bae, Joon Seol; Shin, Hyoung Doo; Shin, Jong-Yeon; Seoh, Ju-Young; Kim, Jong-Il; Hong, Kyeong-Man

2014-01-01

The concept of the utilization of rearranged ends for development of personalized biomarkers has attracted much attention owing to its clinical applicability. Although targeted next-generation sequencing (NGS) for recurrent rearrangements has been successful in hematologic malignancies, its application to solid tumors is problematic due to the paucity of recurrent translocations. However, copy-number breakpoints (CNBs), which are abundant in solid tumors, can be utilized for identification of rearranged ends. As a proof of concept, we performed targeted next-generation sequencing at copy-number breakpoints (TNGS-CNB) in nine colon cancer cases including seven primary cancers and two cell lines, COLO205 and SW620. For deduction of CNBs, we developed a novel competitive single-nucleotide polymorphism (cSNP) microarray method entailing CNB-region refinement by competitor DNA. Using TNGS-CNB, 19 specific rearrangements out of 91 CNBs (20.9%) were identified, and two polymerase chain reaction (PCR)-amplifiable rearrangements were obtained in six cases (66.7%). And significantly, TNGS-CNB, with its high positive identification rate (82.6%) of PCR-amplifiable rearrangements at candidate sites (19/23), just from filtering of aligned sequences, requires little effort for validation. Our results indicate that TNGS-CNB, with its utility for identification of rearrangements in solid tumors, can be successfully applied in the clinical laboratory for cancer-relapse and therapy-response monitoring.

A case report of CIC-rearranged undifferentiated small round cell sarcoma in the cerebrum.

PubMed

Ito, Mayumi; Ishikawa, Misawo; Kitajima, Masateru; Narita, Jun; Hattori, Shinya; Endo, Otone; Goto, Keisuke

2016-10-01

CIC-rearranged undifferentiated small round cell sarcoma (CIC-rearranged USRCS) is a recently established type of Ewing-like small round cell sarcomas, characterized by CIC gene rearrangement, most commonly CIC-DUX4 fusion. This report presents the second case of CIC-rearranged USRCS arising primarily in the cerebrum. A 64-year-old otherwise healthy woman presented with a 1 × 1 cm sized hemorrhagic subcortical tumor in the left temporo-parietal lobe. The tumor repeatedly recurred, and the patient underwent three surgeries, chemotherapy with doxorubicin and ifosfamide, and radiotherapy, as well as gamma knife surgery. Systemic examination revealed no other extracranial masses. Imprint cytology revealed small to moderate-sized round-to-ovoid tumor cells with mild pleomorphism and variations in size and shape. The nuclei contained finely granular chromatin, and some had easily-recognizable nucleoli. The tumor exhibited a mainly cytoplasmic pattern of CD99 immunostaining, rather than a diffuse membranous pattern. The tumor also exhibited diffuse positivity for calretinin and p16, as well as partial positivity for WT1 (nuclear and cytoplasmic staining pattern) and D2-40. FISH assessment showed CIC split signals. In conclusion, CIC-rearranged USRCSs can occur primarily in the cerebrum. It would be impossible to diagnose them through cytology alone, but cytology would be useful to rule out other small round cell brain tumors including gliomas, lymphomas, carcinomas, and germinoma. Immunohistochemical analysis including tests for CD99, calretinin, and WT1 would help to suggest CIC-rearranged USRCSs and distinguish them from Ewing sarcomas. Additionally, immunohistochemistry for p16 might be useful in the diagnosis. Diagn. Cytopathol. 2016;44:828-832. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Chromosomal Rearrangements in Salmonella enterica Serotype Typhi Affecting Molecular Typing in Outbreak Investigations

PubMed Central

Echeita, M. A.; Usera, M. A.

1998-01-01

Salmonella enterica serotype Typhi strains belonging to eight different outbreaks of typhoid fever that occurred in Spain between 1989 and 1994 were analyzed by ribotyping and pulsed-field gel electrophoresis. For three outbreaks, two different patterns were detected for each outbreak. The partial digestion analysis by the intron-encoded endonuclease I-CeuI of the two different strains from each outbreak provided an excellent tool for examining the organization of the genomes of epidemiologically related strains. S. enterica serotype Typhi seems to be more susceptible than other serotypes to genetic rearrangements produced by homologous recombinations between rrn operons; these rearrangements do not substantially alter the stability or survival of the bacterium. We conclude that genetic rearrangements can occur during the emergence of an outbreak. PMID:9650981

Deciphering the Code of the Cancer Genome: Mechanisms of Chromosome Rearrangement

PubMed Central

Willis, Nicholas A.; Rass, Emilie; Scully, Ralph

2015-01-01

Chromosome rearrangement plays a causal role in tumorigenesis by contributing to the inactivation of tumor suppressor genes, the dysregulated expression or amplification of oncogenes and the generation of novel gene fusions. Chromosome breaks are important intermediates in this process. How, when and where these breaks arise and the specific mechanisms engaged in their repair strongly influence the resulting patterns of chromosome rearrangement. Here, we review recent progress in understanding how certain distinctive features of the cancer genome, including clustered mutagenesis, tandem segmental duplications, complex breakpoints, chromothripsis, chromoplexy and chromoanasynthesis may arise. PMID:26726318

Size-Tunable Gd2O3@Albumin Nanoparticles Conjugating Chlorin e6 for Magnetic Resonance Imaging-Guided Photo-Induced Therapy.

PubMed

Zhou, Lijuan; Yang, Tao; Wang, Junxing; Wang, Qiaoli; Lv, Xiaoyan; Ke, Hengte; Guo, Zhengqing; Shen, Junkang; Wang, Yong; Xing, Chungen; Chen, Huabing

2017-01-01

Protein nanoparticles as nanocarriers are of particular interest in the field of cancer therapy. Nevertheless, so far a facile fabrication of theranostic protein nanoparticles have been explored with limited success for cancer imaging and therapy. In this work, we demonstrate the controllable synthesis of size-tunable Gd 2 O 3 @albumin conjugating photosensitizer (PS) (GA-NPs) using hollow albumin as the nanoreactor for magnetic resonance imaging (MRI)-guided photo-induced therapy. The growth of Gd 2 O 3 nanocrystals within the hollow nanoreactors is well regulated through reaction time, and a typical PS (e.g. chlorin e6) is further conjugated with the protein corona of the nanoreactor through facile chemical coupling, followed by the formation of theranostic GA-NPs. GA-NPs exhibit good longitudinal relaxivity, ideal photostability, enhanced cellular uptakes, and preferable size-dependent tumor accumulation. Moreover, GA-NPs effectively generate remarkable photothermal effect, intracellular reactive oxygen species from Ce6, and subsequent cytoplasmic drug translocation, thereby leading to severe synergistic photothermal and photodynamic cell damages. Consequently, GA-NPs exhibit an in vivo size-dependent MRI capacity with enhanced imaging contrast for effective tumor localization, and also generate a potent synergistic photodynamic therapy/photothermal therapy efficacy under irradiation owing to their enhanced tumor accumulation and strong photo-induced cytotoxicity. These results suggest that GA-NPs can act as a promising theranostic protein nanoplatform for cancer imaging and photo-induced therapy.

Photoinduced electron transfer in rigidly linked dimethoxynapthalene-N-methylpyridinium donor-acceptor molecules

NASA Astrophysics Data System (ADS)

Clayton, Andrew H. A.; Ghiggino, Kenneth P.; Wilson, Gerard J.; Keyte, Peter J.; Paddon-Row, Michael N.

1992-07-01

Photoinduced electron transfer (ET) is studied in a series of novel molecules containing a dimethoxynaphthalene (DMN) donor and either a pyridine (P) or N-methylpyridinium (P-Me +) acceptor covalently linked via a rigid nonbornalogous bridge ( n sigma bonds in length). ET rates of the order of 10 10 s -1 were measured for the DMN- n-P-Me + series ( n = 4, 6), while no appreciable ET was observed for the DMN- n-P compounds. Electronic and nuclear factors are discussed and the results rationalized in terms of Marcus—Hush and non-adiabatic ET theories.

Photoinduced Miyaura Borylation by a Rare Earth Photoreductant: the Hexachlorocerate(III) Anion.

PubMed

Qiao, Yusen; Yang, Qiaomu; Schelter, Eric

2018-05-12

The first photoinduced sp2 carbon-heteroatom bond forming reaction by a rare earth photoreductant, a Miyaura borylation, has been achieved. This simple, scalable, and novel borylation method that makes use of the hexachlorocerate(III) anion, [CeIIICl6]3-, has a broad substrate scope and functional group tolerance and can be conducted at room temperature. Combined with Suzuki-Miyaura cross-coupling, the methodology is applicable to the synthesis of various biaryl products, including through the use of aryl chloride substrates. © 2018 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Photoinduced nanobubble-driven superfast diffusion of nanoparticles imaged by 4D electron microscopy

PubMed Central

Fu, Xuewen; Chen, Bin; Tang, Jau; Zewail, Ahmed H.

2017-01-01

Dynamics of active or propulsive Brownian particles in nonequilibrium status have recently attracted great interest in many fields including artificial micro/nanoscopic motors and biological entities. Understanding of their dynamics can provide insight into the statistical properties of physical and biological systems far from equilibrium. We report the translational dynamics of photon-activated gold nanoparticles (NPs) in water imaged by liquid-cell four-dimensional electron microscopy (4D-EM) with high spatiotemporal resolution. Under excitation of femtosecond laser pulses, we observed that those NPs exhibit superfast diffusive translation with a diffusion constant four to five orders of magnitude greater than that in the absence of laser excitation. The measured diffusion constant follows a power-law dependence on the laser fluence and a linear increase with the laser repetition rate, respectively. This superfast diffusion of the NPs is induced by a strong random driving force arising from the photoinduced steam nanobubbles (NBs) near the NP surface. In contrast, the NPs exhibit a superfast ballistic translation at a short time scale down to nanoseconds. Combining with a physical model simulation, this study reveals a photoinduced NB propulsion mechanism for propulsive motion, providing physical insights into better design of light-activated artificial micro/nanomotors. The liquid-cell 4D-EM also provides the potential of studying other numerical dynamical behaviors in their native environments. PMID:28875170

Thermal rearrangement of 7-methylbicyclo

PubMed

Bender; Leber; Lirio; Smith

2000-08-25

The gas-phase thermal rearrangement of exo-7-methylbicyclo[3.2.0]hept-2-ene yields almost exclusively 5-methylnorbornene products. Inversion (i) of configuration dominates this [1,3] sigmatropic shift although some retention (r) is also observed. Because the [1,3] migration can only occur suprafacially (s) in this geometrically constrained system, the si/sr ratio of 7 observed for the migration of C7 in exo-7-methylbicyclo[3.2.0]hept-2-ene indicates that the orbital symmetry rules are somewhat permissive for the [1,3] sigmatropic migration of carbon.

Photoinduced discommensuration of the commensurate charge-density wave phase in 1 T -Ta S2

NASA Astrophysics Data System (ADS)

Tanimura, Katsumi

2018-06-01

The dynamics induced by femtosecond-laser excitation of the commensurate phase of the charge-density wave (CDW) in 1 T -Ta S2 have been studied using both time-resolved electron diffraction and the time-resolved spectroscopy of coherent-phonon dynamics. Electron diffraction results show that the commensurate CDW phase is transformed into a new phase with CDW order that is similar to the nearly commensurate phase with threshold-type transition rates; the threshold excitation density of 0.2 per 13 Ta atoms is evaluated. Coherent-phonon spectroscopy results show that, together with the amplitude mode of CDW with a frequency of 2.41 THz, two other modes with frequencies of 2.34 and 2.07 THz are excited in the photoexcited commensurate CDW phase over a timescale of several tens of picoseconds after excitation. Spectroscopic, temporal, and excitation-intensity dependent characteristics of the three coherent phonons reveal that a photoinduced decomposition of the commensurate CDW order into an ensemble of domains with different CDW orders is induced before the CDW-phase transition occurs. The physics underlying the photoinduced decomposition and evolution into discommensurations responsible for the CDW-order transformation are discussed.

Targeting Photoinduced DNA Destruction by Ru(II) Tetraazaphenanthrene in Live Cells by Signal Peptide.

PubMed

Burke, Christopher S; Byrne, Aisling; Keyes, Tia E

2018-06-06

Exploiting NF-κB transcription factor peptide conjugation, a Ru(II)-bis-tap complex (tap = 1,4,5,8-tetraazaphenanthrene) was targeted specifically to the nuclei of live HeLa and CHO cells for the first time. DNA binding of the complex  within the nucleus of live cells was evident from gradual extinction of the metal complex luminescence after it had crossed the nuclear envelope, attributed to guanine quenching of the ruthenium emission via photoinduced electron transfer. Resonance Raman imaging confirmed that the complex remained in the nucleus after emission is extinguished. In the dark and under imaging conditions the cells remain viable, but efficient cellular destruction was induced with precise spatiotemporal control by applying higher irradiation intensities to selected cells. Solution studies indicate that the peptide conjugated complex associates strongly with calf thymus DNA ex-cellulo and gel electrophoresis confirmed that the peptide conjugate is capable of singlet oxygen independent photodamage to plasmid DNA. This indicates that the observed efficient cellular destruction likely operates via direct DNA oxidation by photoinduced electron transfer between guanine and the precision targeted Ru(II)-tap probe. The discrete targeting of polyazaaromatic complexes to the cell nucleus and confirmation that they are photocytotoxic after nuclear delivery is an important step toward their application in cellular phototherapy.

An Efficient Synthesis of de novo Imidates via Aza-Claisen Rearrangements of N-Allyl Ynamides

PubMed Central

DeKorver, Kyle A.; North, Troy D.; Hsung, Richard P.

2010-01-01

A novel thermal 3-aza-Claisen rearrangement of N-allyl ynamides for the synthesis of α-allyl imidates is described. Also, a sequential aza-Claisen, Pd-catalyzed Overman rearrangement is described for the synthesis of azapine-2-ones. PMID:21278848

Bis(PheOH) maleic acid amide-fumaric acid amide photoizomerization induces microsphere-to-gel fiber morphological transition: the photoinduced gelation system.

PubMed

Frkanec, Leo; Jokić, Milan; Makarević, Janja; Wolsperger, Kristina; Zinić, Mladen

2002-08-21

The photoinduced gelation system based on 1 (non-gelling) to 2 (gelling) molecular photoisomerization in water results by microspheres (1) to gel fibers (2) transformation at the supramolecular level.

Molecular cloning of IGλ rearrangements using long-distance inverse PCR (LDI-PCR).

PubMed

Shimanuki, Masaya; Sonoki, Takashi; Hosoi, Hiroki; Watanuki, Jyuri; Murata, Shogo; Kawakami, Keiki; Matsuoka, Hiroshi; Hanaoka, Nobuyoshi; Nakakuma, Hideki

2013-01-01

Malignant cells of mature B-cell origin show tumor-specific clonal immunoglobulin gene (IG) rearrangements, including V(D)J recombinations, nucleotide mutations, or translocations. Rapid molecular cloning of the breakpoint sequence by long-distance inverse PCR (LDI-PCR) has so far been applied to rearrangements targeted to IGH joining, IGH switch, and IGκ regions. We tended to apply LDI-PCR method for cloning of IGλ rearrangements. To identify which IGλ isotype segment was rearranged, we performed Southern blot analysis using isotype-specific probes. We set inverse primers on the telomeric side of each joining region and amplified rearranged bands detected by Southern blot analysis as corresponding PCR products. All germline IGλ segments were successfully amplified as expected PCR products. We determined breakpoint sequences of five chromosome translocations involving IGλ locus: three novel t(8;22)(q24;q11), one known t(3;22)(q27;q11), and one partially known t(11;22)(q13;q11). Two of the three t(8;22)(q24;q11) were involved in Jλ with a recombination signal sequence and one of three in the first exon of IGLL5, which lies upstream of Jλ1. Three 8q24 breakpoints were widespread at 132, 260 and 366 kb downstream of MYC locus. The t(3;22)(q27;q11) showed a juxtaposition of Jλ2 and the first intron of BCL6, as previously reported. In t(11;22)(q13;q11), 3'UTR of cyclin D1 fused to the constant region of λ7 with nucleotide mutations. We also amplified four Vλ/Jλ recombination sequences. Our method is a useful tool for molecular analysis of genetic events in IGλ. © 2012 John Wiley & Sons A/S.

Multi-organ characterization of mitochondrial genomic rearrangements in ad libitum and caloric restricted mice show striking somatic mitochondrial DNA rearrangements with age.

PubMed Central

Melov, S; Hinerfeld, D; Esposito, L; Wallace, D C

1997-01-01

Mitochondrial DNA (mtDNA) rearrangements have been shown to accumulate with age in the post-mitotic tissues of a variety of animals and have been hypothesized to result in the age-related decline of mitochondrial bioenergetics leading to tissue and organ failure. Caloric restriction in rodents has been shown to extend life span supporting an association between bioenergetics and senescence. In the present study, we use full length mtDNA amplification by long-extension polymerase chain reaction (LX-PCR) to demonstrate that mice accumulate a wide variety of mtDNA rearrangements with age in post mitotic tissues. Similarly, using an alternative PCR strategy, we have found that 2-4 kb minicircles containing the origin of heavy-strand replication accumulate with age in heart but not brain. Analysis of mtDNA structure and conformation by Southern blots of unrestricted DNA resolved by field inversion gel electrophoresis have revealed that the brain mtDNAs of young animals contain the traditional linear, nicked, and supercoiled mtDNAs while old animals accumulate substantial levels of a slower migrating species we designate age-specific mtDNAs. In old caloric restricted animals, a wide variety of rearranged mtDNAs can be detected by LX-PCR in post mitotic tissues, but Southern blots of unrestricted DNA reveals a marked reduction in the levels of the age- specific mtDNA species. These observations confirm that mtDNA mutations accumulate with age in mice and suggest that caloric restriction impedes this progress. PMID:9023106

Asymmetric Synthesis of β-Amino Amides by Catalytic Enantioconvergent 2-Aza-Cope Rearrangement

PubMed Central

Goodman, C. Guy; Johnson, Jeffrey S.

2015-01-01

Dynamic kinetic resolutions of α-stereogenic-β-formyl amides in asymmetric 2-aza-Cope rearrangements are described. Chiral phosphoric acids catalyze this rare example of a non-hydrogenative DKR of a β-oxo acid derivative. The [3,3]-rearrangement occurs with high diastereo- and enantiocontrol, forming β-imino amides that can be deprotected to the primary β-amino amide or reduced to the corresponding diamine. PMID:26561873

Photoinduced electron transfer between benzyloxy dendrimer phthalocyanine and benzoquinone

NASA Astrophysics Data System (ADS)

Zhang, Tiantian; Ma, Dongdong; Pan, Sujuan; Wu, Shijun; Jiang, Yufeng; Zeng, Di; Yang, Hongqin; Peng, Yiru

2016-10-01

Photo-induced electron transfer (PET) is an important and fundamental process in natural photosynthesis. To mimic such interesting PET process, a suitable donor and acceptor couple were properly chosen. Dendrimer phthalocyanines and their derivatives have emerged as promising materials for artificial photosynthesis systems. In this paper, the electron transfer between the light harvest dendrimer phthalocyanine (donor) and the 1,4-benzoquinone (acceptor) was studied by UV/Vis and fluorescence spectroscopic methods. It was found that fluorescence of phthalocyanine was quenched by benzoquinone (BQ) via excited state electron transfer, from the phthalocyanine to the BQ upon excitation at 610 nm. The Stern-Volmer constant (KSV) of electron transfer was calculated. Our study suggests that this dendritic phthalocyanine is an effective new electron donor and transmission complex and could be used as a potential artificial photosynthesis system.

Genomecmp: computer software to detect genomic rearrangements using markers

NASA Astrophysics Data System (ADS)

Kulawik, Maciej; Nowak, Robert M.

2017-08-01

Detection of genomics rearrangements is a tough task, because of the size of data to be processed. As genome sequences may consist of hundreds of millions symbols, it is not only practically impossible to compare them by hand, but it is also complex problem for computer software. The way to significantly accelerate the process is to use rearrangement detection algorithm based on unique short sequences called markers. The algorithm described in this paper develops markers using base genome and find the markers positions on other genome. The algorithm has been extended by support for ambiguity symbols. Web application with graphical user interface has been created using three-layer architecture, where users could run the task simultaneously. The accuracy and efficiency of proposed solution has been studied using generated and real data.

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.

PubMed

D'Angelo, Carla S; Gajecka, Marzena; Kim, Chong A; Gentles, Andrew J; Glotzbach, Caron D; Shaffer, Lisa G; Koiffmann, Célia P

2009-06-01

The mechanisms involved in the formation of subtelomeric rearrangements are now beginning to be elucidated. Breakpoint sequencing analysis of 1p36 rearrangements has made important contributions to this line of inquiry. Despite the unique architecture of segmental duplications inherent to human subtelomeres, no common mechanism has been identified thus far and different nonexclusive recombination-repair mechanisms seem to predominate. In order to gain further insights into the mechanisms of chromosome breakage, repair, and stabilization mediating subtelomeric rearrangements in humans, we investigated the constitutional rearrangements of 1p36. Cloning of the breakpoint junctions in a complex rearrangement and three non-reciprocal translocations revealed similarities at the junctions, such as microhomology of up to three nucleotides, along with no significant sequence identity in close proximity to the breakpoint regions. All the breakpoints appeared to be unique and their occurrence was limited to non-repetitive, unique DNA sequences. Several recombination- or cleavage-associated motifs that may promote non-homologous recombination were observed in close proximity to the junctions. We conclude that NHEJ is likely the mechanism of DNA repair that generates these rearrangements. Additionally, two apparently pure terminal deletions were also investigated, and the refinement of the breakpoint regions identified two distinct genomic intervals ~25-kb apart, each containing a series of 1p36 specific segmental duplications with 90-98% identity. Segmental duplications can serve as substrates for ectopic homologous recombination or stimulate genomic rearrangements.

Computational Analysis of Stereospecificity in the Cope Rearrangement

ERIC Educational Resources Information Center

Glish, Laura; Hanks, Timothy W.

2007-01-01

The Cope rearrangement is a highly stereospecific, concerted reaction of considerable synthetic utility. Experimental product distributions from the reaction of disubstituted 1,5-hexadienes can be readily understood by computer modeling of the various possible transitions states. Semi-empirical methods give relative energies of transition states…

Clinical and electrophysiological evaluation of pediatric Wolff-Parkinson-White patients

PubMed Central

Yıldırım, Işıl; Özer, Sema; Karagöz, Tevfik; Şahin, Murat; Özkutlu, Süheyla; Alehan, Dursun; Çeliker, Alpay

2015-01-01

Objective: Wolff-Parkinson-White (WPW) syndrome presents with paroxysmal supraventricular tachycardia and is characterized by electrocardiographic (ECG) findings of a short PR interval and a delta wave. The objective of this study was to evaluate the electrophysiological properties of children with WPW syndrome and to develop an algorithm for the management of these patients with limited access to electrophysiological study. Methods: A retrospective review of all pediatric patients who underwent electrophysiological evaluation for WPW syndrome was performed. Results: One hundred nine patients underwent electrophysiological evaluation at a single tertiary center between 1997 and 2011. The median age of the patients was 11 years (0.1-18). Of the 109 patients, 82 presented with tachycardia (median age 11 (0.1-18) years), and 14 presented with syncope (median age 12 (6-16) years); 13 were asymptomatic (median age 10 (2-13) years). Induced AF degenerated to ventricular fibrillation (VF) in 2 patients. Of the 2 patients with VF, 1 was asymptomatic and the other had syncope; the accessory pathway effective refractory period was ≤180 ms in both. An intracardiac electrophysiological study was performed in 92 patients, and ablation was not attempted for risk of atrioventricular block in 8 (8.6%). The success and recurrence rate of ablation were 90.5% and 23.8% respectively. Conclusion: The induction of VF in 2 of 109 patients in our study suggests that the prognosis of WPW in children is not as benign as once thought. All patients with a WPW pattern on the ECG should be assessed electrophysiologically and risk-stratified. Ablation of patients with risk factors can prevent sudden death in this population. PMID:26006136

Differentiating fasciculoventricular pathway from Wolff-Parkinson-White syndrome by electrocardiography.

PubMed

Suzuki, Tsugutoshi; Nakamura, Yoshihide; Yoshida, Shuichiro; Yoshida, Yoko; Shintaku, Haruo

2014-04-01

In school-based cardiovascular screening programs in Japan, Wolff-Parkinson-White (WPW) syndrome is diagnosed based on the presence of an electrocardiographic (ECG) delta wave without differentiation from the fasciculoventricular pathway (FVP), although the risk of sudden death is associated only with the former. The purpose of this study was to differentiate FVP patients among children diagnosed with WPW syndrome by ECG. Children who were diagnosed with WPW syndrome through school screening between April 2006 and March 2008 and had QRS width ≤120 ms were included. Patients with asthma and/or coronary heart disease were excluded. FVP and WPW syndrome were differentiated based on ECG responses to adenosine triphosphate (ATP) injection. Age, PR interval, QRS width, and Rosenbaum classification were compared among patients. Thirty patients (median age 12.7 years, range 6.5-15.7 years) participated in the study. FVP was diagnosed in 23 patients (76.7%), and WPW syndrome in 7 (23.3%). In Rosenbaum type A patients, all six patients had WPW syndrome, whereas FVP was diagnosed in 23 of 24 and WPW syndrome was diagnosed in 1 of 24 of type B patients. Age, PR interval, and QRS width were not significantly different between the two conditions. ATP stress test was reliable in differentiating FVP from WPW syndrome. Although FVP is considered rare, the results of our study indicate that many WPW syndrome patients with QRS width ≤120 ms may actually have FVP. Patients categorized as type B are more likely to have FVP, whereas type A patients are most likely to have WPW syndrome. © 2013 Heart Rhythm Society Published by Heart Rhythm Society All rights reserved.

Bundle branch block after ablation for Wolff-Parkinson-White syndrome.

PubMed

Fuenmayor A, Abdel J; Rodríguez S, Yenny A

2013-09-20

Bundle branch block (BBB) is a difficult diagnosis in the Wolff-Parkinson-White syndrome (WPW). We investigated the clinical implications of BBB that appears after performing an accessory pathway (AP) ablation. We studied 199 patients with WPW who were submitted to AP ablation. Thirty (15%) exhibited BBB after the ablation. Twenty-two patients had right BBB and 8 had left BBB. Thirteen patients had right-sided AP and 17 had left-sided AP. They were compared with 82 similar patients without BBB after the AP ablation. Among the patients with BBB, 86.66% showed delays in the middle part of the QRS in the ECG recorded before ablation vs. 18.29% of the patients without BBB (p<0.05) (sensitivity 86%, specificity 81%, positive predictive value 67% and negative predictive value 93%). Forty-four percent of the patients with BBB had BBB morphology during orthodromic tachycardia vs. 10% of the patients without BBB (p<0.05) (sensitivity 44%, specificity 89%, positive predictive value 57% and negative predictive value 82%). No relationship was found between AP location and the site of the BBB. Ejection fraction was normal before (0.61 ± 0.03) and upon completion of follow-up (0.61 ± 0.07). BBB disappeared in 95.3% of the patients. Delays in the middle portion of the QRS may predict BBB after AP ablation. BBB after performing AP ablation is frequent, transient, benign, and not related to either the ablation lesion location or progression to structural heart disease. BBB after AP ablation may be related to cardiac memory. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Uneven colonization of the lymphoid periphery by T cells that undergo early TCR{alpha} rearrangements.

PubMed

Hendricks, Deborah W; Fink, Pamela J

2009-04-01

A sparse population of thymocytes undergoes TCRalpha gene rearrangement early in development, before the double-positive stage. The potential of these cells to contribute to the peripheral T cell pool is unknown. To examine the peripheral T cell compartment expressing a repertoire biased to early TCR gene rearrangements, we developed a mouse model in which TCRalpha rearrangements are restricted to the double-negative stage of thymocyte development. These mice carry floxed RAG2 alleles and a Cre transgene driven by the CD4 promoter. As expected, conventional T cell development is compromised in such Cre(+) RAG2(fl/fl) mice, and the TCRalphabeta(+) T cells that develop are limited in their TCRalpha repertoire, preferentially using early rearranging Valpha genes. In the gut, the Thy-1(+)TCRalphabeta(+) intraepithelial lymphocyte (IEL) compartment is surprisingly intact, whereas the Thy-1(-)TCRalphabeta(+) subset is almost completely absent. Thus, T cells expressing a TCRalpha repertoire that is the product of early gene rearrangements can preferentially populate distinct IEL compartments. Despite this capacity, Cre(+) RAG2(fl/fl) T cell progenitors cannot compete with wild-type T cell progenitors in mixed bone marrow chimeras, suggesting that in normal mice, there is only a small contribution to the peripheral T cell pool by cells that have undergone early TCRalpha rearrangements. In the absence of wild-type competitors, aggressive homeostatic proliferation in the IEL compartment can promote a relatively normal Thy-1(+) TCRalphabeta(+) T cell pool from the limited population derived from Cre(+) RAG2(fl/fl) progenitors.

Uneven colonization of the lymphoid periphery by T cells that undergo early TCRα rearrangements1

PubMed Central

Hendricks, Deborah W.; Fink, Pamela J.

2009-01-01

A sparse population of thymocytes undergoes TCRα gene rearrangement early in development, before the double positive stage. The potential of these cells to contribute to the peripheral T cell pool is unknown. To examine the peripheral T cell compartment expressing a repertoire biased to early TCR gene rearrangements, we developed a mouse model in which TCRα rearrangements are restricted to the double negative stage of thymocyte development. These mice carry floxed RAG2 alleles and a Cre transgene driven by the CD4 promoter. As expected, conventional T cell development is compromised in such Cre(+) RAG2fl/fl mice, and the TCRαβ+ T cells that develop are limited in their TCRα repertoire, preferentially utilizing early-rearranging Vα genes. In the gut, the Thy-1+TCRαβ+ intraepithelial lymphocyte (IEL) compartment is surprisingly intact, while the Thy-1−TCRαβ+ subset is almost completely absent. Thus, T cells expressing a TCRα repertoire that is the product of early gene rearrangements can preferentially populate distinct IEL compartments. Despite this capacity, Cre(+) RAG2fl/fl T cell progenitors cannot compete with wild-type (WT) T cell progenitors in mixed bone marrow chimeras, suggesting that in normal mice, there is only a small contribution to the peripheral T cell pool by cells that have undergone early TCRα rearrangements. In the absence of WT competitors, aggressive homeostatic proliferation in the IEL compartment can promote a relatively normal Thy-1+ TCRαβ+ T cell pool from the limited population derived from Cre(+) RAG2fl/fl progenitors. PMID:19299725

Photoinduced half-integer quantized conductance plateaus in topological-insulator/superconductor heterostructures

NASA Astrophysics Data System (ADS)

Yap, Han Hoe; Zhou, Longwen; Lee, Ching Hua; Gong, Jiangbin

2018-04-01

The past few years have witnessed increased attention to the quest for Majorana-like excitations in the condensed matter community. As a promising candidate in this race, the one-dimensional chiral Majorana edge mode (CMEM) in topological insulator-superconductor heterostructures has gathered renewed interests after an experimental breakthrough [Q. L. He et al., Science 357, 294 (2017), 10.1126/science.aag2792]. In this work, we study computationally the quantum transport of topological insulator-superconductor hybrid devices subject to time-periodic modulation. We report half-integer quantized conductance plateaus at 1/2 e/2h and 3/2 e/2h upon applying the so-called sum rule in the theory of quantum transport in Floquet topological matter. In particular, in a photoinduced topological superconductor sandwiched between two Floquet Chern insulators, it is found that for each Floquet sideband, the CMEM admits equal probability for normal transmission and local Andreev reflection over a wide range of parameter regimes, yielding half-integer quantized plateaus that resist static and time-periodic disorder. While it is well-established that periodic driving fields can simultaneously create and manipulate multiple pairs of Majorana bound states, their detection scheme remains elusive, in part due to their being neutral excitations. Therefore the 3/2 e/2h plateau indicates the possibility to verify the generation of multiple pairs of photoinduced CMEMs via transport measurements. The robust and half-quantized conductance plateaus due to CMEMs are both fascinating and subtle because they only emerge after a summation over contributions from all Floquet sidebands. Our work may add insights into the transport properties of Floquet topological systems and stimulate further studies on the optical control of topological superconductivity.

Photoinduced aging and viscosity evolution in Se-rich Ge-Se glasses

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gueguen, Yann; Sangleboeuf, Jean-Christophe; Rouxel, Tanguy

We propose here to investigate the non-equilibrium viscosity of Ge-Se glasses under and after light irradiation. Ge{sub 10}Se{sub 90} and Ge{sub 20}Se{sub 80} fibers have been aged in the dark and under ambient light, over months. During aging, both the relaxation of enthalpy and the viscosity have been investigated. The viscosity was measured by shear relaxation-recovery tests allowing the measurement of non-equilibrium viscosity. When Ge{sub 10}Se{sub 90} glass fibers are aged under irradiation, a relatively fast fictive temperature decrease is observed. Concomitantly, during aging under irradiation, the non-equilibrium viscosity increases and reaches an equilibrium after two months of aging. Thismore » viscosity increase is also observed in Ge{sub 20}Se{sub 80} fibers. Nevertheless, this equilibrium viscosity is far below the viscosity expected at the configurational equilibrium. As soon as the irradiation ceases, the viscosity increases almost instantaneously by about one order of magnitude. Then, if the fibers are kept in the dark, their viscosity slowly increases over months. The analysis of the shear relaxation functions shows that the aging is thermorheologically simple. On the other side, there is no simple relaxation between the shear relaxation functions measured under irradiation and those measured in the dark. These results clearly suggest that a very specific photoinduced aging process occurs under irradiation. This aging is due to photorelaxation. Nevertheless, the viscosity changes are not solely correlated to photoaging and photorelaxation. A scenario is proposed to explain all the observed viscosity evolutions under and after irradiation, on the basis of photoinduced transient defects.« less

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH)

PubMed Central

Mohan, Shruthi; Koshy, Teena; Vekatachalam, Perumal; Nampoothiri, Sheela; Yesodharan, Dhanya; Gowrishankar, Kalpana; Kumar, Jeevan; Ravichandran, Latha; Joseph, Santhosh; Chandrasekaran, Anupama; Paul, Solomon F. D.

2016-01-01

Background & objectives: Subtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric repetitive sequences, which increase their tendency to recombine, on the other end. These subtelomeric rearrangements resulting in segmental aneusomy are reported to contribute to the aetiology of idiopathic intellectual disability/developmental delay (ID/DD). We undertook this study to estimate the frequency of subtelomeric rearrangements in children with ID/DD. Methods: One hundred and twenty seven children with idiopathic ID/DD were tested for subtelomeric rearrangements using karyotyping and FISH. Blood samples were cultured, harvested, fixed and GTG-banded using the standard protocols. Results: Rearrangements involving the subtelomeres were observed in 7.8 per cent of the tested samples. Detection of rearrangements visible at the resolution of the karyotype constituted 2.3 per cent, while those rearrangements detected only with FISH constituted 5.5 per cent. Five deletions and five unbalanced translocations were detected. Analysis of parental samples wherever possible was informative regarding the inheritance of the rearrangement. Interpretation & conclusions: The frequency of subtelomeric rearrangements observed in this study was within the reported range of 0-35 per cent. All abnormal genotypes were clinically correlated. Further analysis with array technologies presents a future prospect. Our results suggest the need to test individuals with ID/DD for subtelomeric rearrangements using sensitive methods such as FISH. PMID:27934799

A three-sided rearrangeable switching network for a binary fat tree

NASA Astrophysics Data System (ADS)

Yen, Mao-Hsu; Yu, Chu; Shin, Haw-Yun; Chen, Sao-Jie

2011-06-01

A binary fat tree needs an internal node to interconnect the left-children, right-children and parent terminals to each other. In this article, we first propose a three-stage, 3-sided rearrangeable switching network for the implementation of a binary fat tree. The main component of this 3-sided switching network (3SSN) consists of a polygonal switch block (PSB) interconnected by crossbars. With the same size and the same number of switches as our 3SSN, a three-stage, 3-sided clique-based switching network is shown to be not rearrangeable. Also, the effects of the rearrangeable structure and the number of terminals on the network switch-efficiency are explored and a proper set of parameters has been determined to minimise the number of switches. We derive that a rearrangeable 3-sided switching network with switches proportional to N 3/2 is most suitable to interconnect N terminals. Moreover, we propose a new Polygonal Field Programmable Gate Array (PFPGA) that consists of logic blocks interconnected by our 3SSN, such that the logic blocks in this PFPGA can be grouped into clusters to implement different logic functions. Since the programmable switches usually have high resistance and capacitance and occupy a large area, we have to consider the effect of the 3SSN structure and the granularity of its cluster logic blocks on the switch efficiency of PFPGA. Experiments on benchmark circuits show that the switch and speed performances are significantly improved. Based on the experimental results, we can determine the parameters of PFPGA for the VLSI implementation.

Cyclo-biphenalenyl biradicaloid molecular materials: conformation, rearrangement, magnetism, and thermochromism

DOE Office of Scientific and Technical Information (OSTI.GOV)

Huang, Jingsong; Sumpter, Bobby G; Meunier, Vincent

2010-01-01

Cyclo-biphenalenyl biradicaloid molecular materials with chair- and boat-conformations are studied by restricted and broken-symmetry DFT using the M06 family of meta-GGA functionals. The global minima of these molecular materials are magnetically silent due to the sigma-bond connecting the two phenalenyls, while the sigma-bond may undergo low-barrier sigmatropic rearrangements via pi-pi bonded paramagnetic intermediates. The validation of theory is performed for the chair-conformation by comparing the sigma-bonded structures and the rearrangement barriers with experimental data. The boat-conformation is then studied using the validated functional. The electronic spectra of both chair- and boat-conformations are calculated and their applications in thermochromism are discussed.

Partial versus Productive Immunoglobulin Heavy Locus Rearrangements in Chronic Lymphocytic Leukemia: Implications for B-Cell Receptor Stereotypy

PubMed Central

Tsakou, Eugenia; Agathagelidis, Andreas; Boudjoghra, Myriam; Raff, Thorsten; Dagklis, Antonis; Chatzouli, Maria; Smilevska, Tatjana; Bourikas, George; Merle-Beral, Helene; Manioudaki-Kavallieratou, Eleni; Anagnostopoulos, Achilles; Brüggemann, Monika; Davi, Frederic; Stamatopoulos, Kostas; Belessi, Chrysoula

2012-01-01

The frequent occurrence of stereotyped heavy complementarity-determining region 3 (VH CDR3) sequences among unrelated cases with chronic lymphocytic leukemia (CLL) is widely taken as evidence for antigen selection. Stereotyped VH CDR3 sequences are often defined by the selective association of certain immunoglobulin heavy diversity (IGHD) genes in specific reading frames with certain immunoglobulin heavy joining (IGHJ ) genes. To gain insight into the mechanisms underlying VH CDR3 restrictions and also determine the developmental stage when restrictions in VH CDR3 are imposed, we analyzed partial IGHD-IGHJ rearrangements (D-J) in 829 CLL cases and compared the productively rearranged D-J joints (that is, in-frame junctions without junctional stop codons) to (a) the productive immunoglobulin heavy variable (IGHV )-IGHD-IGHJ rearrangements (V-D-J) from the same cases and (b) 174 D-J rearrangements from 160 precursor B-cell acute lymphoblastic leukemia cases (pre-B acute lymphoblastic leukemia [ALL]). Partial D-J rearrangements were detected in 272/829 CLL cases (32.8%). Sequence analysis was feasible in 238 of 272 D-J rearrangements; 198 of 238 (83.2%) were productively rearranged. The D-J joints in CLL did not differ significantly from those in pre-B ALL, except for higher frequency of the IGHD7-27 and IGHJ6 genes in the latter. Among CLL carrying productively rearranged D-J, comparison of the IGHD gene repertoire in productive V-D-J versus D-J revealed the following: (a) overuse of IGHD reading frames encoding hydrophilic peptides among V-D-J and (b) selection of the IGHD3-3 and IGHD6-19 genes in V-D-J junctions. These results document that the IGHD and IGHJ gene biases in the CLL expressed VH CDR3 repertoire are not stochastic but are directed by selection operating at the immunoglobulin protein level. PMID:21968789

Synthesis of (±)-amathaspiramide F and discovery of an unusual stereocontrolling element for the [2,3]-Stevens rearrangement.

PubMed

Soheili, Arash; Tambar, Uttam K

2013-10-04

A formal total synthesis of (±)-amathaspiramide F through a tandem palladium-catalyzed allylic amination/[2,3]-Stevens rearrangement is reported. The unexpected diastereoselectivity of the [2,3]-Stevens rearrangement was controlled by the substitution patterns of an aromatic ring. This discovery represents a new stereocontrolling element for [2,3]-sigmatropic rearrangements in complex molecular settings.

Deuterium enrichment by selective photoinduced dissociation of a multihalogenated organic compound

DOEpatents

Marling, John B.; Herman, Irving P.

1981-01-01

A method for deuterium enrichment by photoinduced dissociation which uses as the deuterium source a multihalogenated organic compound selected from the group consisting of a dihalomethane, a trihalomethane, a 1,2-dihaloethene, a trihaloethene, a tetrahaloethane and a pentahaloethane. The multihalogenated organic compound is subjected to intense infrared radiation at a preselected wavelength to selectively excite and thereby induce dissociation of substantially only those molecules containing deuterium to provide a deuterium enriched dissociation product. The deuterium enriched product may be combusted with oxygen to provide deuterium enriched water. The deuterium depleted undissociated molecules may be redeuterated by treatment with a deuterium source such as water.

EFFECTS OF LASER RADIATION ON MATTER: Photoinduced absorption in chalcogenide glasses

NASA Astrophysics Data System (ADS)

Ponomar', V. V.

1990-08-01

A dependence of the absorption coefficient on the optical radiation intensity in the range 10 - 5 - 1 W/cm2 was observed for chalcogenide glasses at a photon energy less than the band gap of the material. The absorption coefficient depended on the irradiation time. In the case of arsenic sulfide in the range 1.6-1.7 eV an absorption peak was observed at intensities of the order of 10 - 3 W/cm2. In this part of the spectrum the absorption probably involved metastable As-As, S-Se, and Se-Se "defect" bonds and was similar to the photoinduced degradation of hydrogenated amorphous silicon.

Measurement of correlations between low-frequency vibrational modes and particle rearrangements in quasi-two-dimensional colloidal glasses.

PubMed

Chen, Ke; Manning, M L; Yunker, Peter J; Ellenbroek, Wouter G; Zhang, Zexin; Liu, Andrea J; Yodh, A G

2011-09-02

We investigate correlations between low-frequency vibrational modes and rearrangements in two-dimensional colloidal glasses composed of thermosensitive microgel particles, which readily permit variation of the sample packing fraction. At each packing fraction, the particle displacement covariance matrix is measured and used to extract the vibrational spectrum of the "shadow" colloidal glass (i.e., the particle network with the same geometry and interactions as the sample colloid but absent damping). Rearrangements are induced by successive, small reductions in the packing fraction. The experimental results suggest that low-frequency quasilocalized phonon modes in colloidal glasses, i.e., modes that present low energy barriers for system rearrangements, are spatially correlated with rearrangements in this thermal system.

Russian Doll Genes and Complex Chromosome Rearrangements in Oxytricha trifallax

PubMed Central

Braun, Jasper; Nabergall, Lukas; Neme, Rafik; Landweber, Laura F.; Saito, Masahico; Jonoska, Nataša

2018-01-01

Ciliates have two different types of nuclei per cell, with one acting as a somatic, transcriptionally active nucleus (macronucleus; abbr. MAC) and another serving as a germline nucleus (micronucleus; abbr. MIC). Furthermore, Oxytricha trifallax undergoes extensive genome rearrangements during sexual conjugation and post-zygotic development of daughter cells. These rearrangements are necessary because the precursor MIC loci are often both fragmented and scrambled, with respect to the corresponding MAC loci. Such genome architectures are remarkably tolerant of encrypted MIC loci, because RNA-guided processes during MAC development reorganize the gene fragments in the correct order to resemble the parental MAC sequence. Here, we describe the germline organization of several nested and highly scrambled genes in Oxytricha trifallax. These include cases with multiple layers of nesting, plus highly interleaved or tangled precursor loci that appear to deviate from previously described patterns. We present mathematical methods to measure the degree of nesting between precursor MIC loci, and revisit a method for a mathematical description of scrambling. After applying these methods to the chromosome rearrangement maps of O. trifallax we describe cases of nested arrangements with up to five layers of embedded genes, as well as the most scrambled loci in O. trifallax. PMID:29545465

Carbocyclization cascades of allyl ketenimines via aza-Claisen rearrangements of N-phosphoryl-N-allyl-ynamides.

PubMed

DeKorver, Kyle A; Wang, Xiao-Na; Walton, Mary C; Hsung, Richard P

2012-04-06

A series of carbocyclization cascades of allyl ketenimines initiated through a thermal aza-Claisen rearrangement of N-phosphoryl-N-allyl ynamides is described. Interceptions of the cationic intermediate via Meerwein-Wagner rearrangements and polyene-type cyclizations en route to fused bi- and tricyclic frameworks are featured.

Recurrence risk in de novo structural chromosomal rearrangements.

PubMed

Röthlisberger, Benno; Kotzot, Dieter

2007-08-01

According to the textbook of Gardner and Sutherland [2004], the standard on genetic counseling for chromosome abnormalities, the recurrence risk of de novo structural or combined structural and numeric chromosome rearrangements is less than 0.5-2% and takes into account recurrence by chance, gonadal mosaicism, and somatic-gonadal mosaicism. However, these figures are roughly estimated and neither any systematic study nor exact or evidence-based risk calculations are available. To address this question, an extensive literature search was performed and surprisingly only 29 case reports of recurrence of de novo structural or combined structural and numeric chromosomal rearrangements were found. Thirteen of them were with a trisomy 21 due to an i(21q) replacing one normal chromosome 21. In eight of them low-level mosaicism in one of the parents was found either in fibroblasts or in blood or in both. As a consequence of the low number of cases and theoretical considerations (clinical consequences, mechanisms of formation, etc.), the recurrence risk should be reduced to less than 1% for a de novo i(21q) and to even less than 0.3% for all other de novo structural or combined structural and numeric chromosomal rearrangements. As the latter is lower than the commonly accepted risk of approximately 0.3% for indicating an invasive prenatal diagnosis and as the risk of abortion of a healthy fetus after chorionic villous sampling or amniocentesis is higher than approximately 0.5%, invasive prenatal investigation in most cases is not indicated and should only be performed if explicitly asked by the parents subsequent to appropriate genetic counseling. (c) 2007 Wiley-Liss, Inc.

Physical model for the photo-induced toxicity of polycyclic aromatic hydrocarbons (PAHs)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Greenburg, B.M.; Krylov, S.N.; Huang, H.D.

1994-12-31

A model for photo-induced toxicity of PAHs to duckweed was developed. Growth inhibition was described by photochemical reactions between PAHs and a hypothetical group of biomolecules (given the notation G) which are required for growth of the plants. Light activation of PAHs was considered in a two compartment system (water and leaves). The reaction scheme includes: photooxidation of PAHs, partitioning of PAHs into leaves, triplet formation of intact PAHs, photosensitization reactions that consume G, and reaction between photooxidized PAHs and G. The assumptions used in the model are: the rate of PAH photooxidation is slower than the rate of assimilation,more » PAH content in solution is approximately constant over the length of the toxicity test, the fluence rate of actinic radiation is lower in the leaves than in solution, the toxicity of intact PAHs with G in the absence of light is negligible, and the reaction of photooxidized PAHs with G does not require light. The authors then analyzed a series of differential equations that described toxicity. The result was an expression for growth inhibition as a function of the initial concentration of the PAH, the spectral distribution of the light source, the absorption spectrum of the PAH, the quantum yield for formation of triplet state PAH, and the rate of photo-oxidation of the PAH. The expression also includes two complex constants that can be solved by a least squares analysis of the empirical data for growth inhibition. Thus, the model allows a prediction of PAH photo-induced toxicity using only physical parameters of PAHs.« less

Intergenomic rearrangements after polyploidization of Kengyilia thoroldiana (Poaceae: Triticeae) affected by environmental factors.

PubMed

Wang, Qiuxia; Liu, Huitao; Gao, Ainong; Yang, Xinming; Liu, Weihua; Li, Xiuquan; Li, Lihui

2012-01-01

Polyploidization is a major evolutionary process. Approximately 70-75% species of Triticeae (Poaceae) are polyploids, involving 23 genomes. To investigate intergenomic rearrangements after polyploidization of Triticeae species and to determine the effects of environmental factors on them, nine populations of a typical polyploid Triticeae species, Kengyilia thoroldiana (Keng) J.L.Yang et al. (2n = 6x = 42, StStPPYY), collected from different environments, were studied using genome in situ hybridization (GISH). We found that intergenomic rearrangements occurred between the relatively large P genome and the small genomes, St (8.15%) and Y (22.22%), in polyploid species via various types of translocations compared to their diploid progenitors. However, no translocation was found between the relatively small St and Y chromosomes. Environmental factors may affect rearrangements among the three genomes. Chromosome translocations were significantly more frequent in populations from cold alpine and grassland environments than in populations from valley and lake-basin habitats (P<0.05). The relationship between types of chromosome translocations and altitude was significant (r = 0.809, P<0.01). Intergenomic rearrangements associated with environmental factors and genetic differentiation of a single basic genome should be considered as equally important genetic processes during species' ecotype evolution.

Intergenomic Rearrangements after Polyploidization of Kengyilia thoroldiana (Poaceae: Triticeae) Affected by Environmental Factors

PubMed Central

Wang, Qiuxia; Liu, Huitao; Gao, Ainong; Yang, Xinming; Liu, Weihua; Li, Xiuquan; Li, Lihui

2012-01-01

Polyploidization is a major evolutionary process. Approximately 70–75% species of Triticeae (Poaceae) are polyploids, involving 23 genomes. To investigate intergenomic rearrangements after polyploidization of Triticeae species and to determine the effects of environmental factors on them, nine populations of a typical polyploid Triticeae species, Kengyilia thoroldiana (Keng) J.L.Yang et al. (2n = 6x = 42, StStPPYY), collected from different environments, were studied using genome in situ hybridization (GISH). We found that intergenomic rearrangements occurred between the relatively large P genome and the small genomes, St (8.15%) and Y (22.22%), in polyploid species via various types of translocations compared to their diploid progenitors. However, no translocation was found between the relatively small St and Y chromosomes. Environmental factors may affect rearrangements among the three genomes. Chromosome translocations were significantly more frequent in populations from cold alpine and grassland environments than in populations from valley and lake-basin habitats (P<0.05). The relationship between types of chromosome translocations and altitude was significant (r = 0.809, P<0.01). Intergenomic rearrangements associated with environmental factors and genetic differentiation of a single basic genome should be considered as equally important genetic processes during species' ecotype evolution. PMID:22363542

Rearranged anaplastic lymphoma kinase (ALK) gene in adult-onset papillary thyroid cancer amongst atomic bomb survivors.

PubMed

Hamatani, Kiyohiro; Mukai, Mayumi; Takahashi, Keiko; Hayashi, Yuzo; Nakachi, Kei; Kusunoki, Yoichiro

2012-11-01

We previously noted that among atomic bomb survivors (ABS), the relative frequency of cases of adult papillary thyroid cancer (PTC) with chromosomal rearrangements (mainly RET/PTC) was significantly greater in those with relatively higher radiation exposure than those with lower radiation exposure. In contrast, the frequency of PTC cases with point mutations (mainly BRAF(V600E)) was significantly lower in patients with relatively higher radiation exposure than those with lower radiation exposure. We also found that among ABS, the frequency of PTC cases with no detectable gene alterations in RET, neurotrophic tyrosine kinase receptor 1 (NTRK1), BRAF, or RAS was significantly higher in patients with relatively higher radiation exposure than those with lower radiation exposure. However, in ABS with PTC, the relationship between the presence of the anaplastic lymphoma kinase (ALK) gene fused with other gene partners and radiation exposure has received little study. In this study, we tested the hypothesis that the relative frequency of rearranged ALK in ABS with PTC, and with no detectable gene alterations in RET, NTRK1, BRAF, or RAS, would be greater in those having relatively higher radiation exposures. The 105 subjects in the study were drawn from the Life Span Study cohort of ABS of Hiroshima and Nagasaki who were diagnosed with PTC between 1956 and 1993. Seventy-nine were exposed (>0 mGy), and 26 were not exposed to A-bomb radiation. In the 25 ABS with PTC, and with no detectable gene alterations in RET, NTRK1, BRAF, or RAS, we examined archival, formalin-fixed, paraffin-embedded PTC specimens for rearrangement of ALK using reverse transcription-polymerase chain reaction and 5' rapid amplification of cDNA ends (5' RACE). We found rearranged ALK in 10 of 19 radiation-exposed PTC cases, but none among 6 patients with PTC with no radiation exposure. In addition, solid/trabecular-like architecture in PTC was closely associated with ALK rearrangements, being observed in

Antibody repertoire development in fetal and neonatal piglets. XXII. Lambda rearrangement precedes kappa rearrangement during B-cell lymphogenesis in swine

USDA-ARS?s Scientific Manuscript database

PCR was used to detect VDJ and VJ rearrangement, expression of RAG-1, TdT and VpreB and the presence of signal joint circles (SJC) in an effort to identify sites of B cell lymphogenesis in tissue lysates and sorted leukocytes of fetal and newborn piglets. VDJ, VlambdaJlambda but not VkappaJkappa re...

Exceptional complex chromosomal rearrangements in three generations.

PubMed

Kartapradja, Hannie; Marzuki, Nanis Sacharina; Pertile, Mark D; Francis, David; Suciati, Lita Putri; Anggaratri, Helena Woro; Ambarwati, Debby Dwi; Idris, Firman Prathama; Lesmana, Harry; Trimarsanto, Hidayat; Paramayuda, Chrysantine; Harahap, Alida Roswita

2015-01-01

We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband's mother, which was confirmed using the whole chromosome painting (WCP) FISH. High resolution whole genome microarray analysis of DNA from the proband's mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother's and grandmother's CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.

Carbocyclization Cascades of Allyl Ketenimines via Aza-Claisen Rearrangements of N-Phosphoryl-N-Allyl-Ynamides

PubMed Central

DeKorver, Kyle A.; Wang, Xiao-Na; Walton, Mary C.; Hsung, Richard P.

2012-01-01

A series of carbocyclization cascades of allyl ketenimines initiated through a thermal aza-Claisen rearrangement of N-phosphoryl-N-allyl ynamides is described. Interceptions of the cationic intermediate via Meerwein-Wagner rearrangements and polyene-type cyclizations en route to fused bi- and tricyclic frameworks are featured. PMID:22414252

Region-Specific Involvement of Actin Rearrangement-Related Synaptic Structure Alterations in Conditioned Taste Aversion Memory

ERIC Educational Resources Information Center

Bi, Ai-Ling; Wang, Yue; Li, Bo-Qin; Wang, Qian-Qian; Ma, Ling; Yu, Hui; Zhao, Ling; Chen, Zhe-Yu

2010-01-01

Actin rearrangement plays an essential role in learning and memory; however, the spatial and temporal regulation of actin dynamics in different phases of associative memory has not been fully understood. Here, using the conditioned taste aversion (CTA) paradigm, we investigated the region-specific involvement of actin rearrangement-related…

Probing the structural dependency of photoinduced properties of colloidal quantum dots using metal-oxide photo-active substrates

DOE Office of Scientific and Technical Information (OSTI.GOV)

Patty, Kira; Campbell, Quinn; Hamilton, Nathan

We used photoactive substrates consisting of about 1 nm coating of a metal oxide on glass substrates to investigate the impact of the structures of colloidal quantum dots on their photophysical and photochemical properties. We showed during irradiation these substrates can interact uniquely with such quantum dots, inducing distinct forms of photo-induced processes when they have different cores, shells, or ligands. In particular, our results showed that for certain types of core-shell quantum dot structures an ultrathin layer of a metal oxide can reduce suppression of quantum efficiency of the quantum dots happening when they undergo extensive photo-oxidation. This suggestsmore » the possibility of shrinking the sizes of quantum dots without significant enhancement of their non-radiative decay rates. We show that such quantum dots are not influenced significantly by Coulomb blockade or photoionization, while those without a shell can undergo a large amount of photo-induced fluorescence enhancement via such blockade when they are in touch with the metal oxide.« less

Spatiotemporal control of synergistic gel disintegration consisting of boroxole- and glyco-based polymers via photoinduced proton transfer.

PubMed

Kotsuchibashi, Yohei; Ebara, Mitsuhiro; Sato, Takeshi; Wang, Yinan; Rajender, Rajender; Hall, Dennis G; Narain, Ravin; Aoyagi, Takao

2015-02-12

We demonstrate here a local- and remote-control of gel disintegration by using photoinduced proton transfer chemistry of photoacid generator (PAG). The gels were prepared by simply mixing two polymers, poly(N-isopropylacrylamide-co-5-methacrylamido-1,2-benzoxaborole) (P(NIPAAm-co-MAAmBO)) and poly(3-gluconamidopropyl methacrylamide) (PGAPMA) via the synergistic interaction of benzoxaborole and diol groups. The o-nitrobenzaldehyde (o-NBA) was then loaded into the gel as a PAG. The benzoxaborole-diol interaction was successfully disintegrated upon UV irradiation due to the local pH decrease inside the gel. When the gel was irradiated to a specific gel region, the synergistic interactions were disintegrated only at the exposed region. Of special interest is that the whole material eventually transitioned from gel to sol state, as the generated protons diffused gradually toward the nonilluminated region. The ability of the proposed gel-sol transition system via photoinduced proton diffusion may be beneficial for not only prompt pH changes within the gel but also the design of predictive and programmable devices for drug delivery.

Rate Dependence of Elementary Rearrangements and Spatiotemporal Correlations in the 3D Flow of Soft Solids

NASA Astrophysics Data System (ADS)

Vasisht, Vishwas V.; Dutta, Sudeep K.; Del Gado, Emanuela; Blair, Daniel L.

2018-01-01

We use a combination of confocal microscopy, rheology, and molecular dynamics simulations to investigate jammed emulsions under shear, by analyzing the 3D droplets rearrangements in the shear frame. Our quantitative analysis of local dynamics reveals elementary nonaffine rearrangements that underlie the onset of the flow at small strains. We find that the mechanism of unjamming and the upturn in the material flow curve are associated to a qualitative change in spatiotemporal correlations of such rearrangements with the applied shear rate. At high shear rates, droplet clusters follow coordinated, stringlike motion. Conversely, at low shear rates, the elementary nonaffine rearrangements exhibit longer-ranged correlations, with complex spatiotemporal patterns. The 3D microscopic details provide novel insights into the specific features of the material flow curve, common to a large class of technologically relevant soft disordered solids and new fundamental ingredients for constitutive models.

Somatic Rearrangement in B Cells: It's (Mostly) Nuclear Physics.

PubMed

Aiden, Erez Lieberman; Casellas, Rafael

2015-08-13

We discuss how principles of nuclear architecture drive typical gene rearrangements in B lymphocytes, whereas translocation hot spots and recurrent lesions reflect the extent of AID-mediated DNA damage and selection. Copyright © 2015 Elsevier Inc. All rights reserved.

Morphology-dependent photo-induced polarization recovery in ferroelectric thin films

NASA Astrophysics Data System (ADS)

Wang, J. Y.; Liu, G.; Sando, D.; Nagarajan, V.; Seidel, J.

2017-08-01

We investigate photo-induced ferroelectric domain switching in a series of Pb(Zr0.2Ti0.8)O3/La0.7Sr0.3MnO3 (PZT/LSMO) bilayer thin films with varying surface morphologies by piezoresponse force microscopy under light illumination. We demonstrate that reverse poled ferroelectric regions can be almost fully recovered under laser irradiation of the PZT layer and that the recovery process is dependent on the surface morphology on the nanometer scale. The recovery process is well described by the Kolmogorov-Avrami-Ishibashi model, and the evolution speed is controlled by light intensity, sample thickness, and initial write voltage. Our findings shed light on optical control of the domain structure in ferroelectric thin films with different surface morphologies.

A mathematical model for predicting photo-induced voltage and photostriction of PLZT with coupled multi-physics fields and its application

NASA Astrophysics Data System (ADS)

Huang, J. H.; Wang, X. J.; Wang, J.

2016-02-01

The primary purpose of this paper is to propose a mathematical model of PLZT ceramic with coupled multi-physics fields, e.g. thermal, electric, mechanical and light field. To this end, the coupling relationships of multi-physics fields and the mechanism of some effects resulting in the photostrictive effect are analyzed theoretically, based on which a mathematical model considering coupled multi-physics fields is established. According to the analysis and experimental results, the mathematical model can explain the hysteresis phenomenon and the variation trend of the photo-induced voltage very well and is in agreement with the experimental curves. In addition, the PLZT bimorph is applied as an energy transducer for a photovoltaic-electrostatic hybrid actuated micromirror, and the relation of the rotation angle and the photo-induced voltage is discussed based on the novel photostrictive mathematical model.

Unscrambling the genomic chaos of osteosarcoma reveals extensive transcript fusion, recurrent rearrangements and frequent novel TP53 aberrations

PubMed Central

Lorenz, Susanne; Barøy, Tale; Sun, Jinchang; Nome, Torfinn; Vodák, Daniel; Bryne, Jan-Christian; Håkelien, Anne-Mari; Fernandez-Cuesta, Lynnette; Möhlendick, Birte; Rieder, Harald; Szuhai, Karoly; Zaikova, Olga; Ahlquist, Terje C.; Thomassen, Gard O. S.; Skotheim, Rolf I.; Lothe, Ragnhild A.; Tarpey, Patrick S.; Campbell, Peter; Flanagan, Adrienne

2016-01-01

In contrast to many other sarcoma subtypes, the chaotic karyotypes of osteosarcoma have precluded the identification of pathognomonic translocations. We here report hundreds of genomic rearrangements in osteosarcoma cell lines, showing clear characteristics of microhomology-mediated break-induced replication (MMBIR) and end-joining repair (MMEJ) mechanisms. However, at RNA level, the majority of the fused transcripts did not correspond to genomic rearrangements, suggesting the involvement of trans-splicing, which was further supported by typical trans-splicing characteristics. By combining genomic and transcriptomic analysis, certain recurrent rearrangements were identified and further validated in patient biopsies, including a PMP22-ELOVL5 gene fusion, genomic structural variations affecting RB1, MTAP/CDKN2A and MDM2, and, most frequently, rearrangements involving TP53. Most cell lines (7/11) and a large fraction of tumor samples (10/25) showed TP53 rearrangements, in addition to somatic point mutations (6 patient samples, 1 cell line) and MDM2 amplifications (2 patient samples, 2 cell lines). The resulting inactivation of p53 was demonstrated by a deficiency of the radiation-induced DNA damage response. Thus, TP53 rearrangements are the major mechanism of p53 inactivation in osteosarcoma. Together with active MMBIR and MMEJ, this inactivation probably contributes to the exceptional chromosomal instability in these tumors. Although rampant rearrangements appear to be a phenotype of osteosarcomas, we demonstrate that among the huge number of probable passenger rearrangements, specific recurrent, possibly oncogenic, events are present. For the first time the genomic chaos of osteosarcoma is characterized so thoroughly and delivered new insights in mechanisms involved in osteosarcoma development and may contribute to new diagnostic and therapeutic strategies. PMID:26672768

Parametric imaging of experimentally simulated Wolff-Parkinson-White syndrome conduction abnormalities in dogs: a concise communication

DOE Office of Scientific and Technical Information (OSTI.GOV)

Weismueller, P.H.; Henze, E.; Adam, W.E.

1986-01-01

In order to test the diagnostic potential of phase analysis of radionuclide ventriculography (RNV) for localizing accessory bundles in Wolff-Parkinson-White (WPW) syndrome, 24 experimental runs were performed in three open chest instrumented dogs. After a baseline study, WPW syndrome was simulated by stimulation at seven different sites around the base of the ventricles, and RNV's were obtained. Subsequent data processing including Fourier transformation allowed the localization of the site of the first inward motion of the ventricles by an isophasic wave display. In sinus rhythm, the septum contracted first. During ectopic premature ventricular stimulation by triggering the atrial signal, themore » phase scan was altered only when the stimulus was applied earlier than 20 ms before the expected QRS complex during sinus rhythm. During stimulation with fixed frequency, only the left lateral positions of the premature stimulation were detected by phase analysis with a sensitivity of 86%. Neither the antero- or posteroseptal nor the right ventricular premature contraction pattern could be exactly localized.« less

Origin of Reversible Photoinduced Phase Separation in Hybrid Perovskites

NASA Astrophysics Data System (ADS)

Bischak, Connor G.; Hetherington, Craig L.; Wu, Hao; Aloni, Shaul; Ogletree, D. Frank; Limmer, David T.; Ginsberg, Naomi S.

2017-02-01

Nonequilibrium processes occurring in functional materials can significantly impact device efficiencies and are often difficult to characterize due to the broad range of length and time scales involved. In particular, mixed halide hybrid perovskites are promising for optoelectronics, yet the halides reversibly phase separate when photo-excited, significantly altering device performance. By combining nanoscale imaging and multiscale modeling, we elucidate the mechanism underlying this phenomenon, demonstrating that local strain induced by photo-generated polarons promotes halide phase separation and leads to nucleation of light-stabilized iodide-rich clusters. This effect relies on the unique electromechanical properties of hybrid materials, characteristic of neither their organic nor inorganic constituents alone. Exploiting photo-induced phase separation and other nonequilibrium phenomena in hybrid materials, generally, could enable new opportunities for expanding the functional applications in sensing, photoswitching, optical memory, and energy storage.

MECP2 duplications in six patients with complex sex chromosome rearrangements

PubMed Central

Breman, Amy M; Ramocki, Melissa B; Kang, Sung-Hae L; Williams, Misti; Freedenberg, Debra; Patel, Ankita; Bader, Patricia I; Cheung, Sau Wai

2011-01-01

Duplications of the Xq28 chromosome region resulting in functional disomy are associated with a distinct clinical phenotype characterized by infantile hypotonia, severe developmental delay, progressive neurological impairment, absent speech, and proneness to infections. Increased expression of the dosage-sensitive MECP2 gene is considered responsible for the severe neurological impairments observed in affected individuals. Although cytogenetically visible duplications of Xq28 are well documented in the published literature, recent advances using array comparative genomic hybridization (CGH) led to the detection of an increasing number of microduplications spanning MECP2. In rare cases, duplication results from intrachromosomal rearrangement between the X and Y chromosomes. We report six cases with sex chromosome rearrangements involving duplication of MECP2. Cases 1–4 are unbalanced rearrangements between X and Y, resulting in MECP2 duplication. The additional Xq material was translocated to Yp in three cases (cases 1–3), and to the heterochromatic region of Yq12 in one case (case 4). Cases 5 and 6 were identified by array CGH to have a loss in copy number at Xp and a gain in copy number at Xq28 involving the MECP2 gene. In both cases, fluorescent in situ hybridization (FISH) analysis revealed a recombinant X chromosome containing the duplicated material from Xq28 on Xp, resulting from a maternal pericentric inversion. These cases add to a growing number of MECP2 duplications that have been detected by array CGH, while demonstrating the value of confirmatory chromosome and FISH studies for the localization of the duplicated material and the identification of complex rearrangements. PMID:21119712

IG/MYC rearrangements are the main cytogenetic alteration in plasmablastic lymphomas.

PubMed

Valera, Alexandra; Balagué, Olga; Colomo, Luis; Martínez, Antonio; Delabie, Jan; Taddesse-Heath, Lekidelu; Jaffe, Elaine S; Campo, Elías

2010-11-01

Plasmablastic lymphoma (PBL) is an aggressive lymphoma characterized by a terminally differentiated B-cell phenotype that usually occurs in the immunocompromised or elderly patients. Although the clinical and pathologic characteristics of these tumors have been defined, the genetic alterations involved in their pathogenesis are not well known. In this study, we have investigated the chromosomal alterations of MYC, BCL2, BCL6, MALT1, PAX5, and IGH loci using fluorescence in situ hybridization in 42 PBL and 3 extracavitary primary effusion lymphomas. MYC rearrangements were identified in 20 of 41 (49%) PBL and the immunoglobulin (IG) genes were the partners in most tumors. MYC rearrangements were more common in Epstein-Barr virus (EBV)-positive (14 of 19, 74%) than EBV-negative (9 of 21, 43%) tumors (P<0.05). No rearrangements of BCL2, BCL6, MALT1, or PAX5 were detected in any PBL but gains of these loci were observed in 31% to 41% of the cases examined. Twelve of the 40 PBL in which 3 or more loci could be investigated had multiple simultaneous gains in 3 or more loci. No differences in the survival of the patients according to MYC were observed but the 4 patients with the longest survival (>50 mo) had no or low number of gains (<3). No rearrangements of any of these loci were seen in the primary effusion lymphomas. In conclusion, PBL are genetically characterized by frequent IG/MYC translocations and gains in multiple chromosomal loci. The oncogenic activation of MYC in these lymphomas may be an important pathogenetic element associated with EBV infection.

Anticancer drug-DNA interactions measured using a photoinduced electron-transfer mechanism based on luminescent quantum dots.

PubMed

Yuan, Jipei; Guo, Weiwei; Yang, Xiurong; Wang, Erkang

2009-01-01

A sensing system based on the photoinduced electron transfer of quantum dots (QDs) was designed to measure the interaction of anticancer drug and DNA, taking mitoxantrone (MTX) as a model drug. MTX adsorbed on the surface of QDs can quench the photoluminescence (PL) of QDs through the photoinduced electron-transfer process; and then the addition of DNA will bring the restoration of QDs PL intensity, as DNA can bind with MTX and remove it from QDs. Sensitive detection of MTX with the detection limit of 10 nmol L(-1) and a linear detection range from 10 nmol L(-1) to 4.5 micromol L(-1) was achieved. The dependence of PL intensity on DNA amount was successfully utilized to investigate the interactions between MTX and DNA. Both the binding constants and the sizes of binding site of MTX-DNA interactions were calculated based on the equations deduced for the PL recovery process. The binding constant obtained in our experiment was generally consistent with previous reports. The sensitive and speedy detection of MTX as well as the avoidance of modification or immobilization process made this system suitable and promising in the drug-DNA interaction studies.

Differential regulation of proximal and distal Vbeta segments upstream of a functional VDJbeta1 rearrangement upon beta-selection.

PubMed

Brady, Brenna L; Bassing, Craig H

2011-09-15

Developmental stage-specific regulation of transcriptional accessibility helps control V(D)J recombination. Vβ segments on unrearranged TCRβ alleles are accessible in CD4(-)/CD8(-) (double-negative [DN]) thymocytes, when they recombine, and inaccessible in CD4(+)/CD8(+) (double-positive [DP]) thymocytes, when they do not rearrange. Downregulation of Vβ accessibility on unrearranged alleles is linked with Lat-dependent β-selection signals that inhibit Vβ rearrangement, stimulate Ccnd3-driven proliferation, and promote DN-to-DP differentiation. Transcription and recombination of Vβs on VDJβ-rearranged alleles in DN cells has not been studied; Vβs upstream of functional VDJβ rearrangements have been found to remain accessible, yet not recombine, in DP cells. To elucidate contributions of β-selection signals in regulating Vβ transcription and recombination on VDJβ-rearranged alleles, we analyzed wild-type, Ccnd3(-/-), and Lat(-/-) mice containing a preassembled functional Vβ1DJCβ1 (Vβ1(NT)) gene. Vβ10 segments located just upstream of this VDJCβ1 gene were the predominant germline Vβs that rearranged in Vβ1(NT/NT) and Vβ1(NT/NT)Ccnd3(-/-) thymocytes, whereas Vβ4 and Vβ16 segments located further upstream rearranged at similar levels as Vβ10 in Vβ1(NT/NT)Lat(-/-) DN cells. We previously showed that Vβ4 and Vβ16, but not Vβ10, are transcribed on Vβ1(NT) alleles in DP thymocytes; we now demonstrate that Vβ4, Vβ16, and Vβ10 are transcribed at similar levels in Vβ1(NT/NT)Lat(-/-) DN cells. These observations indicate that suppression of Vβ rearrangements is not dependent on Ccnd3-driven proliferation, and DN residence can influence the repertoire of Vβs that recombine on alleles containing an assembled VDJCβ1 gene. Our findings also reveal that β-selection can differentially silence rearrangement of germline Vβ segments located proximal and distal to functional VDJβ genes.

Study of particle rearrangement, compression behavior and dissolution properties after melt dispersion of ibuprofen, Avicel and Aerosil

PubMed Central

Mallick, Subrata; Kumar Pradhan, Saroj; Chandran, Muronia; Acharya, Manoj; Digdarsini, Tanmayee; Mohapatra, Rajaram

2011-01-01

Particle rearrangements, compaction under pressure and in vitro dissolution have been evaluated after melt dispersion of ibuprofen, Avicel and Aerosil. The Cooper–Eaton and Kuno equations were utilized for the determination of particle rearrangement and compression behavior from tap density and compact data. Particle rearrangement could be divided into two stages as primary and secondary rearrangement. Transitional tapping between the stages was found to be 20–25 taps in ibuprofen crystalline powder, which was increased up to 45 taps with all formulated powders. Compaction in the rearrangement stages was increased in all the formulations with respect to pure ibuprofen. Significantly increased compaction of ibuprofen under pressure can be achieved using Avicel by melt dispersion technique, which could be beneficial in ibuprofen tablet manufacturing by direct compression. SEM, FTIR and DSC have been utilized for physicochemical characterization of the melt dispersion powder materials. Dissolution of ibuprofen from compacted tablet of physical mixture and melt dispersion particles has also been improved greatly in the following order: Ibc

Tandem catalytic allylic amination and [2,3]-Stevens rearrangement of tertiary amines.

PubMed

Soheili, Arash; Tambar, Uttam K

2011-08-24

We have developed a catalytic allylic amination involving tertiary aminoesters and allylcarbonates, which is the first example of the use of tertiary amines as intermolecular nucleophiles in metal-catalyzed allylic substitution chemistry. This process is employed in a tandem ammonium ylide generation/[2,3]-rearrangement reaction, which formally represents a palladium-catalyzed Stevens rearrangement. Low catalyst loadings and mild reaction conditions are compatible with an unprecedented substrate scope for the ammonium ylide functionality, and products are generated in high yields and diastereoselectivities. Mechanistic studies suggested the reversible formation of an ammonium intermediate.

Synthesis of polyketide stereoarrays enabled by a traceless oxonia-Cope rearrangement.

PubMed

Yang, Lin; He, Guoli; Yin, Ruifeng; Zhu, Lili; Wang, Xiaoxia; Hong, Ran

2014-10-20

Polyketide antibiotics bearing skipped polyols represent a synthetic challenge. A SiCl4-promoted oxonia-Cope rearrangement of syn,syn-2-vinyl-1,3-diols was developed to forge an array of 1,5-pentenediols, thus providing versatile motifs for the preparation of 1,2,3,5-stereoarrays in a highly stereoselective manner. Further exploration with Sn(OTf)2 realized the rearrangement of a cross-aldehyde which tactically warrants the utility of the current approach to access complex polyketides. The origin of high stereoselectivity is attributed to a chairlike anti-conformation of the oxonium ion intermediate. © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Photoinduced reductive perfluoroalkylation of phosphine oxides: synthesis of P-perfluoroalkylated phosphines using TMDPO and perfluoroalkyl iodides.

PubMed

Sato, Yuki; Kawaguchi, Shin-ichi; Ogawa, Akiya

2015-07-04

A photoinduced reaction between TMDPO (diphenyl(2,4,6-trimethylbenzoyl)-phosphine oxide) and perfluoroalkyl iodides successfully affords P-(perfluoroalkyl)diphenylphosphines as promising ligands for recyclable catalysts. Interestingly, the perfluoroalkylation reaction involves the reduction of phosphorus(V) compounds to phosphorus(III) species. The advantages of the present reaction include the use of an air-stable phosphorus source and good yields of P-perfluoroalkylphosphines in short reaction times.

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.

PubMed

Aristidou, Constantia; Theodosiou, Athina; Ketoni, Andria; Bak, Mads; Mehrjouy, Mana M; Tommerup, Niels; Sismani, Carolina

2018-01-01

Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring. We present a family, where the non-affected father and daughter were found, using FISH and karyotyping, to be carriers of a three-way complex chromosomal rearrangement [t(6;7;10)(q16.2;q34;q26.1), de novo in the father]. The family suffered from two stillbirths, one miscarriage, and has a son with severe intellectual disability. In the present study, the family was revisited using whole-genome mate-pair sequencing. Interestingly, whole-genome mate-pair sequencing revealed a cryptic breakpoint on derivative (der) chromosome 6 rendering the rearrangement even more complex. FISH using a chromosome (chr) 6 custom-designed probe and a chr10 control probe confirmed that the interstitial chr6 segment, created by the two chr6 breakpoints, was translocated onto der(10). Breakpoints were successfully validated with Sanger sequencing, and small imbalances as well as microhomology were identified. Finally, the complex chromosomal rearrangement breakpoints disrupted the SIM1 , GRIK2 , CNTNAP2 , and PTPRE genes without causing any phenotype development. In contrast to the majority of maternally transmitted complex chromosomal rearrangement cases, our study investigated a rare case where a complex chromosomal rearrangement, which most probably resulted from a Type IV hexavalent during the pachytene stage of meiosis I, was stably transmitted from a fertile father to his non-affected daughter. Whole-genome mate-pair sequencing proved highly successful in identifying cryptic complexity, which consequently provided further insight into the meiotic segregation of chromosomes and the increased reproductive risk in individuals carrying the specific complex chromosomal rearrangement. We propose that such complex rearrangements should be characterized in detail using a combination

Deep cytoplasmic rearrangements in axis-respecified Xenopus embryos

NASA Technical Reports Server (NTRS)

Denegre, J. M.; Danilchik, M. V.

1993-01-01

In fertilized eggs of the frog Xenopus, the vegetal yolk mass rotates away from the future dorsal side (J. P. Vincent and J. Gerhart, 1987, Dev. Biol. 123, 526-539), and a major rearrangement of the deep animal hemisphere cytoplasm produces a characteristic swirl in the prospective dorsal side (M. V. Danilchik and J. M. Denegre, 1991, Development 111, 845-856). The relationship between this swirl and determination of the dorsal-ventral axis was further investigated by attempting to experimentally separate the positions of the swirl and the dorsal-ventral axis. Eggs were obliquely oriented in the gravity field to respecify the direction of yolk mass rotation and the position of the dorsal-ventral axis. When yolk mass rotation occurred in the absence of a sperm, as in activated eggs, a swirl pattern formed on the side away from which the yolk mass had rotated. In fertilized eggs tipped with the sperm entry point (SEP) down or to the side, swirl patterns were always found to form on the side away from which the yolk mass was displaced. However, in eggs tipped SEP up, in which the yolk mass was forced to rotate away from the SEP, more complicated rearrangements were observed in addition to the rotation-oriented swirl. Because the direction of yolk mass rotation was found to be influenced by both gravity and the actual position of the SEP in obliquely oriented eggs (SEP to the side), such complicated rearrangement patterns may result from opposing forces generated by both yolk mass rotation and the expanding sperm aster. Thus, except in cases in which the influences of SEP position and unit gravity opposed each other, it was not possible to experimentally separate the position of the deep cytoplasmic swirl from the direction of yolk mass rotation, and therefore the position of the prospective dorsal side.

Enzyme-catalyzed cationic epoxide rearrangements in quinolone alkaloid biosynthesis.

PubMed

Zou, Yi; Garcia-Borràs, Marc; Tang, Mancheng C; Hirayama, Yuichiro; Li, Dehai H; Li, Li; Watanabe, Kenji; Houk, K N; Tang, Yi

2017-03-01

Epoxides are highly useful synthons and biosynthons for the construction of complex natural products during total synthesis and biosynthesis, respectively. Among enzyme-catalyzed epoxide transformations, a reaction that is notably missing, in regard to the synthetic toolbox, is cationic rearrangement that takes place under strong acid. This is a challenging transformation for enzyme catalysis, as stabilization of the carbocation intermediate upon epoxide cleavage is required. Here, we discovered two Brønsted acid enzymes that can catalyze two unprecedented epoxide transformations in biology. PenF from the penigequinolone pathway catalyzes a cationic epoxide rearrangement under physiological conditions to generate a quaternary carbon center, while AsqO from the aspoquinolone pathway catalyzes a 3-exo-tet cyclization to forge a cyclopropane-tetrahydrofuran ring system. The discovery of these new epoxide-modifying enzymes further highlights the versatility of epoxides in complexity generation during natural product biosynthesis.

The use of sugammadex in a pregnant patient with Wolff-Parkinson-White syndrome.

PubMed

Sengul, Turker; Saracoglu, Ayten; Sener, Sibel; Bezen, Olgac

2016-09-01

Wolff-Parkinson-White (WPW) syndrome is a rare pre-excitation syndrome which develops when atrioventricular conduction occurs through a pathologic accessory pathway known as the bundle of Kent instead of atrioventricular node, hence resulting in tachycardia. Patients with WPW syndrome may experience various symptoms arising from mild-to-moderate chest disease, palpitations, hypotension, and severe cardiopulmonary dysfunction. These patients are most often symptomatic because of cardiac arrhythmias. In this case report, we present an uneventful anesthetic management of a pregnant patient with WPW syndrome undergoing cesarean delivery. A 23-year-old American Society of Anesthesiologists class 2 pregnant patient was diagnosed with WPW syndrome. Her preoperative 12-lead electrocardiogram showed a sinus rhythm at 82 beats per minute, a delta wave, and a short PR interval. After an uneventful surgery, sugammadex 2mg/kg was administered as a reversal agent instead of neostigmine. Then she was discharged to her obstetrics service. Serious hemodynamic disorders may occur in patients with WPW syndrome due to development of fatal arrhythmias. Neostigmine used as a reversal agent in general anesthesia can trigger such fatal arrhythmias by leading changes in cardiac conduction. We believe that sugammadex, which is safely used in many areas in the scope of clinical practice, can be also used for patients diagnosed with WPW syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

PubMed

Demaerel, Wolfram; Hestand, Matthew S; Vergaelen, Elfi; Swillen, Ann; López-Sánchez, Marcos; Pérez-Jurado, Luis A; McDonald-McGinn, Donna M; Zackai, Elaine; Emanuel, Beverly S; Morrow, Bernice E; Breckpot, Jeroen; Devriendt, Koenraad; Vermeesch, Joris R

2017-10-05

Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A-D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A-B 22q11.2 deletion carry inversions of LCR22B-D or LCR22C-D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders. Copyright © 2017. Published by Elsevier Inc.

Rearranged Anaplastic Lymphoma Kinase (ALK) Gene in Adult-Onset Papillary Thyroid Cancer Amongst Atomic Bomb Survivors

PubMed Central

Mukai, Mayumi; Takahashi, Keiko; Hayashi, Yuzo; Nakachi, Kei; Kusunoki, Yoichiro

2012-01-01

Background We previously noted that among atomic bomb survivors (ABS), the relative frequency of cases of adult papillary thyroid cancer (PTC) with chromosomal rearrangements (mainly RET/PTC) was significantly greater in those with relatively higher radiation exposure than those with lower radiation exposure. In contrast, the frequency of PTC cases with point mutations (mainly BRAFV600E) was significantly lower in patients with relatively higher radiation exposure than those with lower radiation exposure. We also found that among ABS, the frequency of PTC cases with no detectable gene alterations in RET, neurotrophic tyrosine kinase receptor 1 (NTRK1), BRAF, or RAS was significantly higher in patients with relatively higher radiation exposure than those with lower radiation exposure. However, in ABS with PTC, the relationship between the presence of the anaplastic lymphoma kinase (ALK) gene fused with other gene partners and radiation exposure has received little study. In this study, we tested the hypothesis that the relative frequency of rearranged ALK in ABS with PTC, and with no detectable gene alterations in RET, NTRK1, BRAF, or RAS, would be greater in those having relatively higher radiation exposures. Methods The 105 subjects in the study were drawn from the Life Span Study cohort of ABS of Hiroshima and Nagasaki who were diagnosed with PTC between 1956 and 1993. Seventy-nine were exposed (>0 mGy), and 26 were not exposed to A-bomb radiation. In the 25 ABS with PTC, and with no detectable gene alterations in RET, NTRK1, BRAF, or RAS, we examined archival, formalin-fixed, paraffin-embedded PTC specimens for rearrangement of ALK using reverse transcription–polymerase chain reaction and 5′ rapid amplification of cDNA ends (5′ RACE). Results We found rearranged ALK in 10 of 19 radiation-exposed PTC cases, but none among 6 patients with PTC with no radiation exposure. In addition, solid/trabecular-like architecture in PTC was closely associated with ALK

Reconstruction of the ancestral plastid genome in Geraniaceae reveals a correlation between genome rearrangements, repeats, and nucleotide substitution rates.

PubMed

Weng, Mao-Lun; Blazier, John C; Govindu, Madhumita; Jansen, Robert K

2014-03-01

Geraniaceae plastid genomes are highly rearranged, and each of the four genera already sequenced in the family has a distinct genome organization. This study reports plastid genome sequences of six additional species, Francoa sonchifolia, Melianthus villosus, and Viviania marifolia from Geraniales, and Pelargonium alternans, California macrophylla, and Hypseocharis bilobata from Geraniaceae. These genome sequences, combined with previously published species, provide sufficient taxon sampling to reconstruct the ancestral plastid genome organization of Geraniaceae and the rearrangements unique to each genus. The ancestral plastid genome of Geraniaceae has a 4 kb inversion and a reduced, Pelargonium-like small single copy region. Our ancestral genome reconstruction suggests that a few minor rearrangements occurred in the stem branch of Geraniaceae followed by independent rearrangements in each genus. The genomic comparison demonstrates that a series of inverted repeat boundary shifts and inversions played a major role in shaping genome organization in the family. The distribution of repeats is strongly associated with breakpoints in the rearranged genomes, and the proportion and the number of large repeats (>20 bp and >60 bp) are significantly correlated with the degree of genome rearrangements. Increases in the degree of plastid genome rearrangements are correlated with the acceleration in nonsynonymous substitution rates (dN) but not with synonymous substitution rates (dS). Possible mechanisms that might contribute to this correlation, including DNA repair system and selection, are discussed.

Amiodarone and Catheter Ablation as Cardiac Resynchronization Therapy for Children with Dilated Cardiomyopathy and Wolff-Parkinson-White Syndrome

PubMed Central

Kim, Sung Hoon; Jeong, Soo In; Kang, I-Seok; Lee, Heung Jae

2013-01-01

Preexcitation by accessory pathways (APs) is known to cause dyssynchrony of the ventricle, related to ventricular dysfunction. Correction of ventricular dyssynchrony can improve heart failure in cases of dilated cardiomyopathy (DCMP) with preexcitation. Here, we report the first case of a child with DCMP and Wolff-Parkinson-White (WPW) syndrome treated with amiodarone and radiofrequency catheter ablation (RFCA) in Korea. A 7-year-old boy, who suffered from DCMP and WPW syndrome, showed improved left ventricular function and clinical functional class after treatment with amiodarone to eliminate preexcitation. QRS duration and left ventricular ejection fraction (LVEF) were inversely correlated with amiodarone dosage. After confirming the reduction of preexcitation effects in DCMP, successful RFCA of the right anterior AP resulted in LVEF improvement, along with the disappearance of preexcitation. Our findings suggest that ventricular dyssynchrony, caused by preexcitation in DCMP with WPW syndrome, can worsen ventricular function and amiodarone, as well as RFCA, which should be considered as a treatment option, even in young children. PMID:23407697

Frequent NFIB-associated Gene Rearrangement in Adenoid Cystic Carcinoma of the Vulva.

PubMed

Xing, Deyin; Bakhsh, Salwa; Melnyk, Nataliya; Isacson, Christina; Ho, Julie; Huntsman, David G; Gilks, C Blake; Ronnett, Brigitte M; Horlings, Hugo M

2017-05-01

Adenoid cystic carcinoma is a rare malignant tumor that usually arises in the major and minor salivary glands and other locations containing secretory glands, including the lower female genital tract. Lower female genital tract carcinomas with adenoid cystic differentiation can be subclassified into 2 distinct groups based on the presence or absence of high-risk HPV. Cervical mixed carcinomas with some adenoid cystic differentiation are high-risk HPV-related but pure adenoid cystic carcinomas of vulvar and cervical origin appear to be unrelated to high-risk HPV. Mechanisms by which normal cells give rise to an HPV-unrelated adenoid cystic carcinoma remain largely unknown. Studies demonstrate that chromosomal translocation involving the genes encoding the transcription factors MYB and NFIB functions as a driving force of adenoid cystic carcinomas development regardless of anatomic site. The current study used fluorescence in situ hybridization with 3 different probes including MYB break-apart probe, NFIB break-apart probe, and MYB-NFIB fusion probe to assess for the presence of gene rearrangements in adenoid cystic carcinomas of the vulva. Six (66.7%) of 9 vulvar adenoid cystic carcinomas demonstrated NFIB rearrangement. Of these 6 cases with a disturbed NFIB, only 2 cases (33.3%) were positive for a MYB rearrangement that was also confirmed by a positive MYB-NFIB fusion pattern. NFIB-associated gene rearrangement is a frequent genetic event in vulvar adenoid cystic carcinomas. Chromosome translocations involving NFIB but with an intact MYB indicate the presence of novel oncogenic mechanisms for the development of adenoid cystic carcinomas of the vulva.

The Globular State of the Single-Stranded RNA: Effect of the Secondary Structure Rearrangements

PubMed Central

Grigoryan, Zareh A.; Karapetian, Armen T.

2015-01-01

The mutual influence of the slow rearrangements of secondary structure and fast collapse of the long single-stranded RNA (ssRNA) in approximation of coarse-grained model is studied with analytic calculations. It is assumed that the characteristic time of the secondary structure rearrangement is much longer than that for the formation of the tertiary structure. A nonequilibrium phase transition of the 2nd order has been observed. PMID:26345143

Permeability of DOPC bilayers under photoinduced oxidation: Sensitivity to photosensitizer.

PubMed

Bacellar, Isabel O L; Baptista, Mauricio S; Junqueira, Helena C; Wainwright, Mark; Thalmann, Fabrice; Marques, Carlos M; Schroder, André P

2018-06-07

The modification of lipid bilayer permeability is one of the most striking yet poorly understood physical transformations that follow photoinduced lipid oxidation. We have recently proposed that the increase of permeability of photooxidized 1,2-dioleoyl-sn-glycero-3-phosphocholine (DOPC) bilayers is controlled by the time required by the oxidized lipid species to diffuse and aggregate into pores. Here we further probe this mechanism by studying photosensitization of DOPC membranes by methylene blue (MB) and DO15, a more hydrophobic phenothiazinium photosensitizer, under different irradiation powers. Our results not only reveal the interplay between the production rate and the diffusion of the oxidized lipids, but highlight also the importance of photosensitizer localization in the kinetics of oxidized membrane permeability. Copyright © 2018. Published by Elsevier B.V.

GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly

PubMed Central

Do, Hongdo; Molania, Ramyar

2017-01-01

The identification of genomic rearrangements with high sensitivity and specificity using massively parallel sequencing remains a major challenge, particularly in precision medicine and cancer research. Here, we describe a new method for detecting rearrangements, GRIDSS (Genome Rearrangement IDentification Software Suite). GRIDSS is a multithreaded structural variant (SV) caller that performs efficient genome-wide break-end assembly prior to variant calling using a novel positional de Bruijn graph-based assembler. By combining assembly, split read, and read pair evidence using a probabilistic scoring, GRIDSS achieves high sensitivity and specificity on simulated, cell line, and patient tumor data, recently winning SV subchallenge #5 of the ICGC-TCGA DREAM8.5 Somatic Mutation Calling Challenge. On human cell line data, GRIDSS halves the false discovery rate compared to other recent methods while matching or exceeding their sensitivity. GRIDSS identifies nontemplate sequence insertions, microhomologies, and large imperfect homologies, estimates a quality score for each breakpoint, stratifies calls into high or low confidence, and supports multisample analysis. PMID:29097403

ESR study of photoinduced free radicals by visible light in hair and the effects of ascorbic acid (vitamin C).

PubMed

Chikvaidze, E; Khachatryan, I

2011-08-01

The ESR spectra of melanin's free radicals in natural black and red hair have been investigated. It is shown that the ESR spectrum of black hair is slightly asymmetric singlet with g=2.0037 and ΔH=0.5 mTl. The ESR spectrum of red hair with g=2.0053 differs from the spectrum of black hair. Using the method of saturation was shown that ESR spectrum of red hair represents a superposition of two signals: a singlet, relating to the black hair, and a triplet from red hair's pheomelanin. Under the influence of visible light (blue with λ(max) =450 nm, green with λ(max) =510 nm and red with λ(max) =650 nm) in both types of hair (black and red), the photoinduced free radicals appear, which indicates an increase in the intensity of already existing ESR spectrum of hair. It should be noted that the ESR spectra of red hair from various donors are different. The antioxidant ascorbic acid (vitamin C) has the different effect on the photoinduced free radicals. In particular, in the case of black hair, the concentration of photoinduced free radicals is slightly reduced, whereas in red hair, the disappearance of the triplet in the spectrum is observed, and at the same time, the spectrum becomes a singlet, the intensity of which increases sharply. It is assumed that the antioxidants, effective for black hair, may be ineffective for red hair and vice versa. Therefore, in each, specific case is necessary to investigate the effectiveness of an antioxidant separately. © 2011 The Authors. ICS © 2011 Society of Cosmetic Scientists and the Société Française de Cosmétologie.

Novel genomic rearrangements mediated by multiple genetic elements in Streptococcus pyogenes M23ND confer potential for evolutionary persistence

PubMed Central

Bao, Yun-Juan; Liang, Zhong; Mayfield, Jeffrey A.; McShan, William M.; Lee, Shaun W.; Ploplis, Victoria A.; Castellino, Francis J.

2016-01-01

Symmetric genomic rearrangements around replication axes in genomes are commonly observed in prokaryotic genomes, including Group A Streptococcus (GAS). However, asymmetric rearrangements are rare. Our previous studies showed that the hypervirulent invasive GAS strain, M23ND, containing an inactivated transcriptional regulator system, covRS, exhibits unique extensive asymmetric rearrangements, which reconstructed a genomic structure distinct from other GAS genomes. In the current investigation, we identified the rearrangement events and examined the genetic consequences and evolutionary implications underlying the rearrangements. By comparison with a close phylogenetic relative, M18-MGAS8232, we propose a molecular model wherein a series of asymmetric rearrangements have occurred in M23ND, involving translocations, inversions and integrations mediated by multiple factors, viz., rRNA-comX (factor for late competence), transposons and phage-encoded gene segments. Assessments of the cumulative gene orientations and GC skews reveal that the asymmetric genomic rearrangements did not affect the general genomic integrity of the organism. However, functional distributions reveal re-clustering of a broad set of CovRS-regulated actively transcribed genes, including virulence factors and metabolic genes, to the same leading strand, with high confidence (p-value ~10−10). The re-clustering of the genes suggests a potential selection advantage for the spatial proximity to the transcription complexes, which may contain the global transcriptional regulator, CovRS, and other RNA polymerases. Their proximities allow for efficient transcription of the genes required for growth, virulence and persistence. A new paradigm of survival strategies of GAS strains is provided through multiple genomic rearrangements, while, at the same time, maintaining genomic integrity. PMID:27329479

NUTM2A-CIC fusion small round cell sarcoma: a genetically distinct variant of CIC-rearranged sarcoma.

PubMed

Sugita, Shintaro; Arai, Yasuhito; Aoyama, Tomoyuki; Asanuma, Hiroko; Mukai, Wakako; Hama, Natsuko; Emori, Makoto; Shibata, Tatsuhiro; Hasegawa, Tadashi

2017-07-01

CIC-rearranged sarcoma is a new entity of undifferentiated small round cell sarcoma characterized by chimeric fusions with CIC rearrangement. We report a NUTM2A-CIC fusion sarcoma in a 43-year-old woman who died of rapidly progressive disease. Histologic analysis revealed multinodular proliferation of small round tumor cells with mild nuclear pleomorphism. The sclerotic fibrous septa separated the tumor into multiple nodules. Immunohistochemistry showed that the tumor cells were diffusely positive for vimentin, focally positive for cytokeratin, and negative for CD99 and NKX2.2. Tumor cells were also negative for ETV4, which was recently identified as a specific marker for CIC-rearranged sarcoma. High-throughput RNA sequencing of a formalin-fixed, paraffin-embedded clinical sample unveiled a novel NUTM2A-CIC fusion between NUTM2A exon 7 and CIC exon 12, and fluorescence in situ hybridization identified CIC and NUTM2A split signals. This case shared several clinicopathological findings with previously reported CIC-rearranged cases. We recognized the tumor as a genetically distinct variant of CIC-rearranged sarcomas with a novel NUTM2A-CIC fusion. Copyright © 2017. Published by Elsevier Inc.

Ultrafast Photoinduced Multimode Antiferromagnetic Spin Dynamics in Exchange-Coupled Fe/RFeO3 (R = Er or Dy) Heterostructures.

PubMed

Tang, Jin; Ke, Yajiao; He, Wei; Zhang, Xiangqun; Zhang, Wei; Li, Na; Zhang, Yongsheng; Li, Yan; Cheng, Zhaohua

2018-05-25

Antiferromagnetic spin dynamics is important for both fundamental and applied antiferromagnetic spintronic devices; however, it is rarely explored by external fields because of the strong exchange interaction in antiferromagnetic materials. Here, the photoinduced excitation of ultrafast antiferromagnetic spin dynamics is achieved by capping antiferromagnetic RFeO 3 (R = Er or Dy) with an exchange-coupled ferromagnetic Fe film. Compared with antiferromagnetic spin dynamics of bare RFeO 3 orthoferrite single crystals, which can be triggered effectively by ultrafast laser heating just below the phase transition temperature, the ultrafast photoinduced multimode antiferromagnetic spin dynamic modes, for exchange-coupled Fe/RFeO 3 heterostructures, including quasiferromagnetic resonance, impurity, coherent phonon, and quasiantiferromagnetic modes, are observed in a temperature range of 10-300 K. These experimental results not only offer an effective means to trigger ultrafast antiferromagnetic spin dynamics of rare-earth orthoferrites, but also shed light on the ultrafast manipulation of antiferromagnetic magnetization in Fe/RFeO 3 heterostructures. © 2018 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

ROS1 gene rearrangement and copy number gain in non-small cell lung cancer.

PubMed

Jin, Yan; Sun, Ping-Li; Kim, Hyojin; Park, Eunhyang; Shim, Hyo Sup; Jheon, Sanghoon; Kim, Kwhanmien; Lee, Choon-Taek; Chung, Jin-Haeng

2015-01-01

ROS1 has attracted much attention as a possible oncogenic driver and ROS1-rearranged tumors show sensitivity to most ALK inhibitors. We aimed to clarify the prevalence of ROS1 gene rearrangement and investigate the clinical implications of ROS1 gene copy number gain (CNG) in non-small cell lung cancer (NSCLC) patients. We carried out fluorescent in situ hybridization with ROS1 and centromere enumeration 6 probes and immunohistochemistry for ROS1 protein expression. ROS1 rearrangement was detected in 3 of 375 samples (0.8 %); all of whom were female, never-smokers, and harbored an adenocarcinoma component. ROS1 gene CNG was found in 18 cases (4.8 %). ROS1 gene CNG was significantly associated with shorter disease-free survival (DFS, 12 vs. 58 months; p = 0.003) and shorter overall survival (OS, 40 vs. 67 months; p <0.001) than the group without CNG. Multivariate analysis confirmed that ROS1 gene CNG was significantly associated with poorer DFS (hazard ratio [HR]=2.16, 95 % confidence interval [CI] = 1.22-3.81, p = 0.008), and OS ([HR] = 2.53, 95 % [CI] = 1.31-4.89, p = 0.006). ROS1 protein overexpression was observed in 5.0 % (18 out of 357), of which 2 cases harbored ROS1 gene rearrangement. There was no statistically significant correlation between ROS1 gene CNG and protein overexpression. This study demonstrated ROS1 gene rearrangement was detected in 0.8 % of surgically resected NSCLC; and ROS1 gene CNG is an independent poor prognostic factor. This survival analyses may contribute to future studies on the utility of ROS1-targeted therapy for patients.

TALEN-engineered AR gene rearrangements reveal endocrine uncoupling of androgen receptor in prostate cancer

PubMed Central

Nyquist, Michael D.; Li, Yingming; Hwang, Tae Hyun; Manlove, Luke S.; Vessella, Robert L.; Silverstein, Kevin A. T.; Voytas, Daniel F.; Dehm, Scott M.

2013-01-01

Androgen receptor (AR) target genes direct development and survival of the prostate epithelial lineage, including prostate cancer (PCa). Thus, endocrine therapies that inhibit the AR ligand-binding domain (LBD) are effective in treating PCa. AR transcriptional reactivation is central to resistance, as evidenced by the efficacy of AR retargeting in castration-resistant PCa (CRPC) with next-generation endocrine therapies abiraterone and enzalutamide. However, resistance to abiraterone and enzalutamide limits this efficacy in most men, and PCa remains the second-leading cause of male cancer deaths. Here we show that AR gene rearrangements in CRPC tissues underlie a completely androgen-independent, yet AR-dependent, resistance mechanism. We discovered intragenic AR gene rearrangements in CRPC tissues, which we modeled using transcription activator-like effector nuclease (TALEN)-mediated genome engineering. This modeling revealed that these AR gene rearrangements blocked full-length AR synthesis, but promoted expression of truncated AR variant proteins lacking the AR ligand-binding domain. Furthermore, these AR variant proteins maintained the constitutive activity of the AR transcriptional program and a CRPC growth phenotype independent of full-length AR or androgens. These findings demonstrate that AR gene rearrangements are a unique resistance mechanism by which AR transcriptional activity can be uncoupled from endocrine regulation in CRPC. PMID:24101480

Conversion and non-conversion approach to preimplantation diagnosis for chromosomal rearrangements in 475 cycles.

PubMed

Kuliev, Anver; Janzen, Jeanine Cieslak; Zlatopolsky, Zev; Kirillova, Irina; Ilkevitch, Yury; Verlinsky, Yury

2010-07-01

Due to the limitations of preimplantation genetic diagnosis (PGD) for chromosomal rearrangements by interphase fluorescent in-situ hybridization (FISH) analysis, a method for obtaining chromosomes from single blastomeres was introduced by their fusion with enucleated or intact mouse zygotes, followed by FISH analysis of the resulting heterokaryons. Although this allowed a significant improvement in the accuracy of testing of both maternally and paternally derived translocations, it is still labour intensive and requires the availability of fertilized mouse oocytes, also creating ethical issues related to the formation of interspecies heterokaryons. This method was modified with a chemical conversion procedure that has now been clinically applied for the first time on 877 embryos from PGD cycles for chromosomal rearrangements and has become the method of choice for performing PGD for structural rearrangements. This is presented within the context of overall experience of 475 PGD cycles for translocations with pre-selection and transfer of balanced or normal embryos in 342 (72%) of these cycles, which resulted in 131 clinical pregnancies (38%), with healthy deliveries of 113 unaffected children. The spontaneous abortion rate in these cycles was as low as 17%, which confirms an almost five-fold reduction of spontaneous abortion rate following PGD for chromosomal rearrangements. 2010 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

Preadaptation to the stimulus rearrangement of weightlessness: Preliminary studies and concepts for trainer designs

NASA Technical Reports Server (NTRS)

Parker, D. E.; Reschke, M. F.

1988-01-01

An effort to develop preflight adaptation training (PAT) apparatus and procedures to adapt astronauts to the stimulus rearrangement of weightless spaceflight is being pursued. Based on the otolith tilt-translation reinterpretation model of sensory adaptation to weightlessness, two prototype preflight adaptation trainers (PAT) have been developed. These trainers couple pitch movement of the subject with translation of the visual surround. Subjects were exposed to this stimulus rearrangement for periods of 30 m. The hypothesis is that exposure to the rearrangement would attenuate vertical eye movements was supported by two experiments using the Miami University Seesaw (MUS) PAT prototype. The Dynamic Environment Simulator (DES) prototype failed to support this hypothesis; this result is attributed to a pecularity of the DES apparatus. A final experiment demonstrated that changes in vertical eye movements were not a consequence of fixation on an external target during exposure to a control condition. Together these experiments support the view that preflight adaptation training can alter eye movements in a manner consistent with adaptation to weightlessness. Following these initial studies, concepts for development of operational preflight trainers were proposed. The trainers are intended to: demonstrate the stimulus rearrangement of weightlessness; allow astronauts to train in altered sensory environment; modify sensory motor reflexes; and reduce/eliminate space motion sickness symptoms.

DNA rearrangements directed by non-coding RNAs in ciliates

PubMed Central

Mochizuki, Kazufumi

2013-01-01

Extensive programmed rearrangement of DNA, including DNA elimination, chromosome fragmentation, and DNA descrambling, takes place in the newly developed macronucleus during the sexual reproduction of ciliated protozoa. Recent studies have revealed that two distant classes of ciliates use distinct types of non-coding RNAs to regulate such DNA rearrangement events. DNA elimination in Tetrahymena is regulated by small non-coding RNAs that are produced and utilized in an RNAi-related process. It has been proposed that the small RNAs produced from the micronuclear genome are used to identify eliminated DNA sequences by whole-genome comparison between the parental macronucleus and the micronucleus. In contrast, DNA descrambling in Oxytricha is guided by long non-coding RNAs that are produced from the parental macronuclear genome. These long RNAs are proposed to act as templates for the direct descrambling events that occur in the developing macronucleus. Both cases provide useful examples to study epigenetic chromatin regulation by non-coding RNAs. PMID:21956937

Association between genomic instability and evolutionary chromosomal rearrangements in Neotropical Primates.

PubMed

Puntieri, Fiona; Andrioli, Nancy B; Nieves, Mariela

2018-06-14

During the last decades the mammalian genome has been proposed to have regions prone to breakage and reorganization concentrated in certain chromosomal bands that seem to correspond to evolutionary breakpoints. These bands are likely to be involved in chromosome fragility or instability. In Primates, some biomarkers of genetic damage may be associated with various degrees of genomic instability. Here, we investigated the usefulness of Sister Chromatid Exchange (SCE) as a biomarker of potential sites of frequent chromosome breakage and rearrangement in Alouatta caraya, Ateles chamek, Ateles paniscus and Cebus cay. These Neotropical species have particular genomic and chromosomal features allowing the analysis of genomic instability for comparative purposes. We determined the frequency of spontaneous induction of SCEs and assessed the relationship between these and structural rearrangements implicated in the evolution of the primates of interest. Overall, A. caraya and C. cay presented a low proportion of statistically significant unstable bands, suggesting fairly stable genomes and the existence of some kind of protection against endogenous damage. In contrast, Ateles showed a highly significant proportion of unstable bands; these were mainly found in the rearranged regions, which is consistent with the numerous genomic reorganizations that might have occurred during the evolution of this genus.

Towards the Synthesis of Dihydrooxepino[4,3-b]pyrrole-Containing Natural Products via Cope Rearrangement of Vinyl Pyrrole Epoxides.

PubMed

Cameron, Alex; Fisher, Brendan; Fisk, Nicholas; Hummel, Jessica; White, Jonathan M; Krenske, Elizabeth H; Rizzacasa, Mark A

2015-12-18

An approach to the dihydrooxepino[4,3-b]pyrrole core of diketopiperazine natural products which utilizes a vinyl pyrrole epoxide Cope rearrangement was investigated. It was found that an ester substituent on the epoxide was essential for the [3,3]-rearrangement to occur. Density functional calculations with M06-2X provided explanations for the effects of the pyrrole and ester groups on these rearrangements.

Radical Rearrangement Chemistry in Ultraviolet Photodissociation of Iodotyrosine Systems: Insights from Metastable Dissociation, Infrared Ion Spectroscopy, and Reaction Pathway Calculations.

PubMed

Ranka, Karnamohit; Zhao, Ning; Yu, Long; Stanton, John F; Polfer, Nicolas C

2018-05-29

We report on the ultraviolet photodissociation (UVPD) chemistry of protonated tyrosine, iodotyrosine, and diiodotyrosine. Distonic loss of the iodine creates a high-energy radical at the aromatic ring that engages in hydrogen/proton rearrangement chemistry. Based on UVPD kinetics measurements, the appearance of this radical is coincident with the UV irradiation pulse (8 ns). Conversely, sequential UVPD product ions exhibit metastable decay on ca. 100 ns timescales. Infrared ion spectroscopy is capable of confirming putative structures of the rearrangement products as proton transfers from the imine and β-carbon hydrogens. Potential energy surfaces for the various reaction pathways indicate that the rearrangement chemistry is highly complex, compatible with a cascade of rearrangements, and that there is no preferred rearrangement pathway even in small molecular systems like these. Graphical Abstract.

Wolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family.

PubMed

van der Steld, Lenises de Paula; Campuzano, Oscar; Pérez-Serra, Alexandra; Moura de Barros Zamorano, Mabel; Sousa Matos, Selma; Brugada, Ramon

2017-07-10

BACKGROUND PRKAG2 syndrome diagnosis is already well-defined as Wolff-Parkinson-White syndrome (WPW), ventricular hypertrophy (VH) due to glycogen accumulation, and conduction system disease (CSD). Because of its rarity, there is a lack of literature focused on the treatment. The present study aimed to describe appropriate strategies for the treatment of affected family members with PRKAG2 syndrome with a long follow-up period. CASE REPORT We studied 60 selected individuals from 84 family members (32 males, 53.3%) (mean age 27±16 years). Patients with WPW and/or VH were placed in a group of 18 individuals, in which 11 (61.1%) had VH and WPW, 6 (33.3%) had isolated WPW, and 1 (5.6%) had isolated VH. Palpitations occurred in 16 patients (88.9%), chest pain in 11 (61.1%), dizziness in 13 (72.2%), syncope in 15 (83.3%), and dyspnea in 13 (72%). Sudden cardiac death (SCD) occurred in 2 (11.1%), and 2 patients with cardiac arrest (CA) had asystole and pre-excited atrial flutter-fibrillation (AFL and AF) as the documented mechanism. Transient ischemic attack (TIA) and learning/language disabilities with delayed development were observed. Genetic analysis identified a new missense pathogenic variant (p.K290I) in the PRKAG2 gene. Cardiac histopathology demonstrated the predominance of vacuoles containing glycogen derivative and fibrosis. The treatment was based on hypertension and diabetes mellitus (DM) control, antiarrhythmic drugs (AD), anticoagulation, and radiofrequency catheter ablation (RCA). Six patients (33.3%) underwent pacemaker implantation (PM). CONCLUSIONS The present study describes the clinical treatment for a rare cardiac syndrome caused by a PRKAG2 mutation.

Photo-induced electronic properties in single quantum well system: effect of excitonic lifetime

NASA Astrophysics Data System (ADS)

Patwari, Jayita; Ghadi, Hemant; Sardar, Samim; Singhal, Jashan; Tongbram, Binita; Shyamal, Sanjib; Bhattacharya, Chinmoy; Chakrabarti, Subhananda; Pal, Samir Kumar

2017-01-01

In the present study, we have established a correlation between the photo-induced electronic phenomena and excited state lifetime of the photo generated carriers in double barrier Al0.3Ga0.7As\\GaAs quantum well (QW) structures. The excited state lifetime was measured experimentally by picosecond time resolved photoluminescence spectroscopy for two samples with different well widths (5.3 nm and 16.5 nm). The faster nonradiative decay time of the narrower well can be attributed to the facile escape of electrons from well to barrier due to lower associated energy compared to that of the thicker well which resembles the simulated results of the energy level distribution. The proposed mechanism of carrier escape is further proven from the higher value of unconventional excitonic capacitance value in the thicker well, measured by impedance spectroscopy. The dependence of photo-induced capacitance on well thickness is explained by the lifetime of the excited carriers in this study. Dependence of the photo-generated capacitance (C) on externally applied bias voltage (V) was also studied to quantitatively establish a proportional relation between the carrier holding capacity of the well and the excitonic lifetime. The higher accumulation of charge and lower ground state energy of the thicker well is evident from the higher tunnelling current found for the same in the photocurrent (I) versus voltage (V) measurement. Thus the escape of electrons from the well to barrier is the key factor affecting the photo generated charge accumulation and its holding capacity which in turn influences the device performances.

Facile synthesis of bismuth oxyhalide nanosheet films with distinct conduction type and photo-induced charge carrier behavior

NASA Astrophysics Data System (ADS)

Jia, Huimin; He, Weiwei; Zhang, Beibei; Yao, Lei; Yang, Xiaokai; Zheng, Zhi

2018-05-01

A modified successive ionic layer adsorption and reaction (SILAR) method was developed to fabricate 2D ordered BiOX (X = CI, Br, I) nanosheet array films on FTO substrates at room temperature. The formation of BiOX films were characterized by X-ray powder diffraction (XRD), scanning electron microscopy (SEM), high resolution transmission electron microscopy (HRTEM), UV-vis absorption spectroscopy, and X-ray photoelectron spectroscopy (XPS). The semiconductor surface states determine the type of semiconductor. Although BiOCI, BiOBr and BiOI belong to the bismuth oxyhalide semiconductor family and possess similar crystal and electronic structures, they show different conductivity types due to their respective surface states. Mott-Schottky curve results demonstrate that the BiOCl and BiOI nanosheet arrays display n-type semiconductor properties, while the BiOBr films exhibit p-type semiconductor properties. Assisted by surface photovoltage (SPV) and transient photovoltage (TPV) techniques, the photoinduced charge transfer dynamics on the surface/interface of the BiOX/FTO nanosheet films were systematically and comparatively investigated. As revealed by the results, both the separation and transfer dynamics of the photo-induced carrier are influenced by film thickness.

Dyssynchronous Ventricular Activation in Asymptomatic Wolff-Parkinson-White Syndrome: A Risk Factor for Development of Dilated Cardiomyopathy

PubMed Central

Udink ten Cate, Floris EA; Wiesner, Nathalie; Trieschmann, Uwe; Khalil, Markus; Sreeram, Narayanswami

2010-01-01

A subset of children and adults with Wolff-Parkinson-White (WPW) syndrome develop dilated cardiomyopathy (DCM). Although DCM may occur in symptomatic WPW patients with sustained tachyarrhythmias, emerging evidence suggests that significant left ventricular dysfunction may arise in WPW in the absence of incessant tachyarrhythmias. An invariable electrophysiological feature in this non-tachyarrhythmia type of DCM is the presence of a right-sided septal or paraseptal accessory pathway. It is thought that premature ventricular activation over these accessory pathways induces septal wall motion abnormalities and ventricular dyssynchrony. LV dyssynchrony induces cellular and structural ventricular remodelling, which may have detrimental effects on cardiac performance. This review summarizes recent evidence for development of DCM in asymptomatic patients with WPW, discusses its pathogenesis, clinical presentation, management and treatment. The prognosis of accessory pathway-induced DCM is excellent. LV dysfunction reverses following catheter ablation of the accessory pathway, suggesting an association between DCM and ventricular preexcitation. Accessory pathway-induced DCM should be suspected in all patients presenting with heart failure and overt ventricular preexcitation, in whom no cause for their DCM can be found. PMID:20552060

[Cardioversion for paroxysmal supraventricular tachycardia during lung surgery in a patient with concealed Wolff-Parkinson-White syndrome].

PubMed

Sato, Yoshiharu; Nagata, Hirofumi; Inoda, Ayako; Miura, Hiroko; Watanabe, Yoko; Suzuki, Kenji

2014-10-01

We report a case of paroxysmal supraventricular tachycardia (PSVT) that occurred during video-assisted thoracoscopic (VATS) lobectomy in a patient with concealed Wolff-Parkinson-White (WPW) syndrome. A 59-year-old man with lung cancer was scheduled for VATS lobectomy under general anesthesia. After inserting a thoracic epidural catheter, general anesthesia was induced with intravenous administration of propofol. Anesthesia was maintained with inhalation of desfurane in an air/oxygen mixture and intravenous infusion of remifentanil. Recurrent PSVT occurred three times, and the last episode of PSVT continued for 50 minutes regardless of administration of antiarrhythmic drugs. Synchronized electric shock via adhesive electrode pads on the patient's chest successfully converted PSVT back to normal sinus rhythm. The remaining course and postoperative period were uneventful. An electrophysiological study performed after hospital discharge detected concealed WPW syndrome, which had contributed to the development of atrioventricular reciprocating tachycardia. Concealed WPW syndrome is a rare, but critical complication that could possibly cause lethal atrial tachyarrhythmias during the perioperative period. In the present case, cardioversion using adhesive electrode pads briefly terminated PSVT in a patient with concealed WPW syndrome.

Duration of bubble rearrangements in a coarsening foam probed by time-resolved diffusing-wave spectroscopy: Impact of interfacial rigidity

NASA Astrophysics Data System (ADS)

Le Merrer, Marie; Cohen-Addad, Sylvie; Höhler, Reinhard

2013-08-01

In aqueous foams, the diffusive gas transfer among neighboring bubbles drives a coarsening process which is accompanied by intermittent rearrangements of the structure. Using time-resolved diffusing-wave spectroscopy, we probe the dynamics of these events as a function of the rigidity of the gas-liquid interfaces, liquid viscosity, bubble size, and confinement pressure. We present in detail two independent techniques for analyzing the light scattering data, from which we extract the rearrangement duration. Our results show that interfacial rheology has a major impact on this duration. In the case of low interfacial rigidity, the rearrangements strongly slow down as the pressure is decreased close to the value zero where the bubble packing unjams. In contrast, if the interfaces are rigid, rearrangement durations are independent of the confinement pressure in the same investigated range. Using scaling arguments, we discuss dissipation mechanisms that may explain the observed dependency of the rearrangement dynamics on foam structure, pressure, and physicochemical solution properties.

Graphene/CdTe heterostructure solar cell and its enhancement with photo-induced doping

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lin, Shisheng, E-mail: shishenglin@zju.edu.cn; Chen, Hongsheng; State Key Laboratory of Modern Optical Instrumentation, Zhejiang University, Hangzhou 310027

2015-11-09

We report a type of solar cell based on graphene/CdTe Schottky heterostructure, which can be improved by surface engineering as graphene is atomic thin. By coating a layer of ultrathin CdSe quantum dots onto graphene/CdTe heterostructure, the power conversion efficiency is increased from 2.08% to 3.10%. Photo-induced doping is mainly accounted for this enhancement, as evidenced by field effect transport, Raman, photoluminescence, and quantum efficiency measurements. This work demonstrates a feasible way of improving the performance of graphene/semiconductor heterostructure solar cells by combining one dimensional with two dimensional materials.

Electron trapping in the photo-induced conductivity decay in GaAs/SnO2 heterostructure

NASA Astrophysics Data System (ADS)

de Freitas Bueno, Cristina; de Andrade Scalvi, Luis Vicente

2018-06-01

The decay of photo-induced conductivity is measured for GaAs/SnO2 heterostructure, after illumination with appropriate wavelength. The top oxide layer is deposited by sol-gel-dip-coating and doped with Eu3+, and the GaAs bottom layer is deposited by resistive evaporation. It shows quite unusual behavior since the decay rate gets slower as the temperature is raised. The trapping by intrabandgap defects in the SnO2 top layer is expected, but a GaAs/SnO2 interface arrest becomes also evident, mainly for temperatures below 100 K. Concerning the SnO2 layer, trapping by different defects is possible, due to the observed distinct capture time range. Besides Eu3+ centers and oxygen vacancies, this sort of heterostructure also leads to Eu3+ agglomerate areas in the SnO2 top layer surface, which may contribute for electron scattering. The electrical behavior reported here aims to contribute for the understanding of the electrical transport mechanisms which, combined with emission from Eu3+ ions from the top layer of the heterostructure, opens new possibilities for optoelectronic devices because samples in the form of films are desirable for circuit integration. The modeling of the photo-induced decay data yields the capture barrier in the range 620-660 meV, and contributes for the defect rules on the electrical properties of this heterostructure.

Photoinduced oxygen dynamics in lyophilized hemoglobin

NASA Astrophysics Data System (ADS)

Nöllmann, M.; Etchegoin, P.

2000-12-01

Reversible laser induced deoxygenation in the lyophilized phase of hemoglobin is demonstrated by means of resonant Raman scattering, luminescence, and optical transmission. Specific Raman modes, which are both sensitive to the spin states of Fe(II) in the hemes and resonant in the visible, are monitored as a function of time to evaluate the effect of the illuminating laser. These modes act as in-situ markers of the oxygen content of the protein. The reversible photoinduced deoxygenation can be observed through both the Raman spin-markers and the optical transmission experiments. In the former, reversible changes in the intensities of specific Raman modes are observed, while in the latter, the oscillator strength of the two main absorptions of oxyhemoglobin in the visible are seen to vary accordingly. The luminescence in lyophilized hemoglobin is found to have at least two different contributions, (i) a resonant component with the Raman modes and; (ii) a nonresonant contribution, which increases at high input laser powers and eventually masks the Raman signals. The nonresonant contribution is the luminescence of the photoproduct achieved by thermal denaturation of the protein and remains standing as a permanent nonreversible damage in the illuminated spot. Semiempirical electronic calculations of the wavefunction and total energy of the iron porphyrin reveal the underlying physical origin of the laser induced deoxygenation process in the hemes and are also presented.

Spatial localization of nanoparticle growth in photoinduced nanocomposites

NASA Astrophysics Data System (ADS)

Smirnov, Anton A.; Pikulin, Alexander; Bityurin, Nikita

2018-02-01

Photoinduced nanocomposites are the polymer materials where the nanoparticles can be generated by the light irradiation. The single atoms of metal are formed due to the photoreduction of the metal-containing precursor added to the polymer matrix. Then the atoms precipitate into the nanoparticles (NPs). Similarly, semiconductor NPs are assembled from the monomer species such as CdS, which can be released due to the photodestruction of the appropriate precursor. We analyze theoretically the possibility of spatial confinement of growing nanoparticles in a domain where the elementary species are generated by a three-dimensionally localized source. It is shown that the effective confinement can be achieved only if the size of the generation domain exceeds some critical spatial scale determined by the parameters of the system. The confinement is provided by the trapping of the diffusing elementary species by the growing nanoparticles. The proposed model considers the irreversible particle growth, typical for the noble metals. Both the nucleation and the particle growth processes are suggested to be diffusion controlled.

A synthetic NO reduction cycle on a bis(pyrazolato)-bridged dinuclear ruthenium complex including photo-induced transformation.

PubMed

Arikawa, Yasuhiro; Hiura, Junko; Tsuchii, Chika; Kodama, Mika; Matsumoto, Naoki; Umakoshi, Keisuke

2018-05-17

A synthetic NO reduction cycle (2NO + 2H+ + 2e- → N2O + H2O) on a dinuclear platform {(TpRu)2(μ-pz)2} (Tp = HB(pyrazol-1-yl)3) was achieved, where an unusual N-N coupling complex was included. Moreover, an interesting photo-induced conversion of the N-N coupling complex to an oxido-bridged complex was revealed.

Analyzing Somatic Genome Rearrangements in Human Cancers by Using Whole-Exome Sequencing

PubMed Central

Yang, Lixing; Lee, Mi-Sook; Lu, Hengyu; Oh, Doo-Yi; Kim, Yeon Jeong; Park, Donghyun; Park, Gahee; Ren, Xiaojia; Bristow, Christopher A.; Haseley, Psalm S.; Lee, Soohyun; Pantazi, Angeliki; Kucherlapati, Raju; Park, Woong-Yang; Scott, Kenneth L.; Choi, Yoon-La; Park, Peter J.

2016-01-01

Although exome sequencing data are generated primarily to detect single-nucleotide variants and indels, they can also be used to identify a subset of genomic rearrangements whose breakpoints are located in or near exons. Using >4,600 tumor and normal pairs across 15 cancer types, we identified over 9,000 high confidence somatic rearrangements, including a large number of gene fusions. We find that the 5′ fusion partners of functional fusions are often housekeeping genes, whereas the 3′ fusion partners are enriched in tyrosine kinases. We establish the oncogenic potential of ROR1-DNAJC6 and CEP85L-ROS1 fusions by showing that they can promote cell proliferation in vitro and tumor formation in vivo. Furthermore, we found that ∼4% of the samples have massively rearranged chromosomes, many of which are associated with upregulation of oncogenes such as ERBB2 and TERT. Although the sensitivity of detecting structural alterations from exomes is considerably lower than that from whole genomes, this approach will be fruitful for the multitude of exomes that have been and will be generated, both in cancer and in other diseases. PMID:27153396

Characterization of photo-induced valence tautomerism in a cobalt-dioxolene complex by ultrafast spectroscopy

NASA Astrophysics Data System (ADS)

Beni, A.; Bogani, L.; Bussotti, L.; Dei, A.; Gentili, P. L.; Righini, R.

2005-01-01

The valence tautomerism of low-spin CoIII(Cat-N-BQ)(Cat-N-SQ) was investigated by means of UV-vis pump-probe transient absorption spectroscopy in chloroform. By exciting the CT transition of the complex at 480 nm, an intramolecular electron transfer process is selectively triggered. The photo-induced charge transfer is pursued by a cascade of two main molecular events characterized by the ultrafast transient absorption spectroscopy: the first gives rise to the metastable high-spin CoII(Cat-N-BQ)2 that, secondly, reaches the chemical equilibrium with the reactant species.

T-cell receptor gene rearrangement in Epstein-Barr virus infectious mononucleosis.

PubMed

Marbello, L; Riva, M; Veronese, S; Nosari, A M; Ravano, E; Colosimo, A; Paris, L; Morra, E

2012-09-01

This report describes the case of a previously healthy young man who presented with fever, pharyngitis, cervical lymphadenopathy, lymphocytosis, and severe thrombocytopenia. Serological tests for Epstein-Barr virus were diagnostic of a primary Epstein-Barr virus infectious mononucleosis but severe thrombocytopenia aroused the suspicion of a lymphoproliferative disease. T-cell receptor gene analysis performed on peripheral and bone marrow blood revealed a T-cell receptor γ-chain rearrangement without the evidence of malignancy using standard histologic and immunophenotype studies. Signs and symptoms of the infectious disease, blood count, and T-cell receptor gene rearrangement resolved with observation without the evidence of emergence of a lymphoproliferative disease. In the contest of a suspected lymphoproliferative disease, molecular results should be integrated with all available data for an appropriate diagnosis.

Photoinduced charge carriers' accumulation and its impact on random lasing in Nd3+ doped (Pb,La)(Zr,Ti)O3 ceramics

NASA Astrophysics Data System (ADS)

Xu, Caixia; Zhang, Jingwen; Xu, Long; Ma, Xinyan; Zhao, Hua

2017-06-01

To pinpoint the driving forces behind the random lasing in Nd3+ doped lanthanum lead zirconate titanate (Nd:PLZT) ceramic plates, a combinatorial cavity with two gain media (Nd:YVO4 and Nd:PLZT) was used to study the switching feature between conventional lasing and random lasing oscillations. The complex laser output dynamics observed hinted that the photo-induced charge accumulation on the plate surface and the grain boundaries of Nd:PLZT is responsible for the lasing action switching, which was confirmed by a series of experiments, including strong electro-induced scattering, remarkable photoinduced currents, and light transmission reduction, along with measured single-pass-gain over the theoretical limit. It was found that the charge accumulation results in optical energy storage and nonuniform refractive index and hence strong scattering, which give rise to the random walks and weak localization of photons and long lasting lasing action and mode switching.

Clinical significance of productive immunoglobulin heavy chain gene rearrangements in childhood acute lymphoblastic leukemia.

PubMed

Katsibardi, Katerina; Braoudaki, Maria; Papathanasiou, Chrissa; Karamolegou, Kalliopi; Tzortzatou-Stathopoulou, Fotini

2011-09-01

We analyzed the CDR3 region of 80 children with B-cell acute lymphoblastic leukemia (B-ALL) using the ImMunoGeneTics Information System and JOINSOLVER. In total, 108 IGH@ rearrangements were analyzed. Most of them (75.3%) were non-productive. IGHV@ segments proximal to IGHD-IGHJ@ were preferentially rearranged (45.3%). Increased utilization of IGHV3 segments IGHV3-13 (11.3%) and IGHV3-15 (9.3%), IGHD3 (30.5%), and IGHJ4 (34%) was noted. In pro-B ALL more frequent were IGHV3-11 (33.3%) and IGHV6-1 (33.3%), IGHD2-21 (50%), IGHJ4 (50%), and IGHJ6 (50%) segments. Shorter CDR3 length was observed in IGHV@6, IGHD7, and IGHJ1 segments, whereas increased CDR3 length was related to IGHV3, IGHD2, and IGHJ4 segments. Increased risk of relapse was found in patients with productive sequences. Specifically, the relapse-free survival rate at 5 years in patients with productive sequences at diagnosis was 75% (standard error [SE] ±9%), whereas in patients with non-productive sequences it was 97% (SE ±1.92%) (p-value =0.0264). Monoclonality and oligoclonality were identified in 81.2% and 18.75% cases at diagnosis, respectively. Sequence analysis revealed IGHV@ to IGHDJ joining only in 6.6% cases with oligoclonality. The majority (75%) of relapsed patients had monoclonal IGH@ rearrangements. The preferential utilization of IGHV@ segments proximal to IGHDJ depended on their location on the IGHV@ locus. Molecular mechanisms occurring during IGH@ rearrangement might play an essential role in childhood ALL prognosis. In our study, the productivity of the rearranged sequences at diagnosis proved to be a significant prognostic factor.

Mechanistic and kinetic insights into the thermally induced rearrangement of alpha-pinene.

PubMed

Stolle, Achim; Ondruschka, Bernd; Findeisen, Matthias

2008-11-07

The thermal rearrangement of alpha-pinene (1) is interesting from mechanistic as well as kinetic point of view. Carrier gas pyrolyses with 1 and its acyclic isomers ocimene (2) and alloocimene (3) were performed to investigate the thermal network of these hydrocarbons. Kinetic analysis of the major reaction steps allows for a deeper insight in the reaction mechanism. Thus it was possible to explain the racemization of 1, the formation of racemic limonene (4), and the absence of the primary pyrolysis product 2 in the reaction mixture resulting from thermal rearrangement of 1. Results supported the conclusion that the reactions starting with 1 involve biradical transition states.

Malignant perivascular epithelioid cell tumor (PEComa) of cervix with TFE3 gene rearrangement: a case report.

PubMed

Liu, Feifei; Zhang, Renya; Wang, Zi-Yu; Xia, Qiuyuan; Shen, Qin; Shi, Shanshan; Tu, Pin; Shi, Qunli; Zhou, Xiaojun; Rao, Qiu

2014-01-01

In this study, we reported the first PEComa arising within the cervix with TFE3 gene rearrangement and aggressive biological behavior. Morphologically, the tumor showed infiltrative growth into the surrounding parenchyma. The majority of tumor cells were arrayed in sheets, alveolar structures, or nests separated by delicate fibrovascular septa. There was marked intratumoral hemorrhage, necrosis, and stromal calcifications. The tumor cells had abundant clear cytoplasm, focally containing finely granular dark brown pigment, morphologically considered to be melanin. Immunohistochemically, the tumor cells demonstrated moderately (2+) or strongly (3+) positive staining for TFE3, HMB45, and Melan A but negative for CKpan, SMA, S100, PAX8, and PAX2. The presence of Ki-67 protein demonstrated a moderate proliferation rate, with a few Ki-67-positive nuclei. Using a recently developed TFE3 split FISH assay, the presence of TFE3 rearrangement was demonstrated. All these clinicopathologic features are suggestive of TFE3-rearranged PEComas of the cervix. Our results both expand the known characteristics of primary cervix PEComas and add to the data regarding TFE3 rearrangement-associated PEComas.

The incidence and distribution characteristics of MLL rearrangements in Chinese acute myeloid leukemia patients by multiplex nested RT-PCR.

PubMed

Yang, Hua; Cao, Tingting; Gao, Li; Wang, Lili; Zhu, Chengying; Xu, Yuanyuan; Jing, Yu; Zhu, Haiyan; Lv, Na; Yu, Li

2017-07-20

Occurrence of MLL (Mixed Lineage Leukemia) gene rearrangements indicates poor prognosis in acute myeloid leukemia (AML) patients. This is the first study to report the positive rate and distribution characteristics of MLL rearrangements in AML patients in north China. We used multiplex nested real time PCR (RT-PCR) to screen for incidence of 11 MLL rearrangements in 433 AML patients. Eleven MLL rearrangements included (MLL-PTD, MLL-AF9, MLL-ELL, MLL-AF10, MLL-AF17, MLL-AF6, MLL-ENL, MLL-AF1Q, MLL-CBP, MLL-AF1P, MLL-AFX1). There were 68 AML patients with MLL rearrangements, and the positive rate was 15.7%. MLL-PTD (4.84%) was detected in 21 patients, MLL-AF9 in 15, (3.46%), MLL-ELL in 10 (2.31%), MLL-AF10 in 8 (1.85%), MLL-AF1Q in 2 (0.46%), 3 cases each of MLL-AF17, MLL-AF6, MLL-ENL (0.69% each), a and single case each of MLL-CBP, MLL-AF1P, and MLL-AFX1 (0.23% each). The highest rate of MLL rearrangements was found in 24 patients with M5 subtype AML, occurring in 24 cases (35.3%). MLL rearrangements occurred in 21 patients with M2 subtype AML (30.9%), and in 10 patients with M4 subtype AML (14.7%). Screening fusion genes by multiplex nested RT-PCR is a convenient, fast, economical, and accurate method for diagnosis and predicting prognosis of AML.

Immunohistochemistry reliably detects ALK rearrangements in patients with advanced non-small-cell lung cancer.

PubMed

Han, Xiao-Hong; Zhang, Ning-Ning; Ma, Li; Lin, Dong-Mei; Hao, Xue-Zhi; Liu, Yu-Tao; Wang, Lin; Liu, Peng; Yuan, Zheng; Li, Dan; Lin, Hua; Sun, Yan; Shi, Yuan-Kai

2013-10-01

Accurate determination of anaplastic lymphoma kinase (ALK) rearrangements is critical in identifying ALK-positive patients for targeted therapy in non-small-cell lung cancer (NSCLC). Fluorescence in situ hybridization (FISH) is the current standard method to detect ALK rearrangements but is technically challenging and costly. We compared optimised immunohistochemistry (IHC), quantitative real-time polymerase chain reaction (qRT-PCR) and fluorescence in situ hybridization techniques in this study of 139 samples of advanced NSCLC with non-squamous histology. ALK alteration was found in 32.6 % (43/132) of patients by FISH, 32.9 % (45/137) of patients by IHC and 27.9 % (34/122) of samples by qRT-PCR (concordance rate of 96.9 % between FISH and IHC, 95.7 % between FISH and qRT-PCR, P < 0.001). IHC sensitivity and specificity were 97.7 % and 96.6 %, respectively, while the sensitivity and specificity of qRT-PCR were 89.2 % and 98.7 %, respectively. ALK rearrangements were more common in young patients (P = 0.007), non-smokers or light smokers (P = 0.008) and adenocarcinoma histology, especially with signet ring cell features (P < 0.001). Optimised IHC could be a useful method in screening ALK rearrangements in clinical practice with qRT-PCR as an alternative diagnostic tool to clarify specific ALK variants.

Next-generation sequencing of mixed genomic DNA allows efficient assembly of rearranged mitochondrial genomes in Amolops chunganensis and Quasipaa boulengeri

PubMed Central

Yuan, Siqi; Zheng, Yuchi; Zeng, Xiaomao

2016-01-01

Recent improvements in next-generation sequencing (NGS) technologies can facilitate the obtainment of mitochondrial genomes. However, it is not clear whether NGS could be effectively used to reconstruct the mitogenome with high gene rearrangement. These high rearrangements would cause amplification failure, and/or assembly and alignment errors. Here, we choose two frogs with rearranged gene order, Amolops chunganensis and Quasipaa boulengeri, to test whether gene rearrangements affect the mitogenome assembly and alignment by using NGS. The mitogenomes with gene rearrangements are sequenced through Illumina MiSeq genomic sequencing and assembled effectively by Trinity v2.1.0 and SOAPdenovo2. Gene order and contents in the mitogenome of A. chunganensis and Q. boulengeri are typical neobatrachian pattern except for rearrangements at the position of “WANCY” tRNA genes cluster. Further, the mitogenome of Q. boulengeri is characterized with a tandem duplication of trnM. Moreover, we utilize 13 protein-coding genes of A. chunganensis, Q. boulengeri and other neobatrachians to reconstruct the phylogenetic tree for evaluating mitochondrial sequence authenticity of A. chunganensis and Q. boulengeri. In this work, we provide nearly complete mitochondrial genomes of A. chunganensis and Q. boulengeri. PMID:27994980

Photoinduced Reductive Elimination of H2 from the Nitrogenase Dihydride (Janus) State Involves a FeMo-cofactor-H2 Intermediate.

PubMed

Lukoyanov, Dmitriy; Khadka, Nimesh; Dean, Dennis R; Raugei, Simone; Seefeldt, Lance C; Hoffman, Brian M

2017-02-20

N 2 reduction by nitrogenase involves the accumulation of four reducing equivalents at the active site FeMo-cofactor to form a state with two [Fe-H-Fe] bridging hydrides (denoted E 4 (4H), the Janus intermediate), and we recently demonstrated that the enzyme is activated to cleave the N≡N triple bond by the reductive elimination (re) of H 2 from this state. We are exploring a photochemical approach to obtaining atomic-level details of the re activation process. We have shown that, when E 4 (4H) at cryogenic temperatures is subjected to 450 nm irradiation in an EPR cavity, it cleanly undergoes photoinduced re of H 2 to give a reactive doubly reduced intermediate, denoted E 4 (2H)*, which corresponds to the intermediate that would form if thermal dissociative re loss of H 2 preceded N 2 binding. Experiments reported here establish that photoinduced re primarily occurs in two steps. Photolysis of E 4 (4H) generates an intermediate state that undergoes subsequent photoinduced conversion to [E 4 (2H)* + H 2 ]. The experiments, supported by DFT calculations, indicate that the trapped intermediate is an H 2 complex on the ground adiabatic potential energy suface that connects E 4 (4H) with [E 4 (2H)* + H 2 ]. We suggest that this complex, denoted E 4 (H 2 ; 2H), is a thermally populated intermediate in the catalytically central re of H 2 by E 4 (4H) and that N 2 reacts with this complex to complete the activated conversion of [E 4 (4H) + N 2 ] into [E 4 (2N2H) + H 2 ].

Photoinduced Reductive Elimination of H 2 from the Nitrogenase Dihydride (Janus) State Involves a FeMo-cofactor-H 2 Intermediate

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lukoyanov, Dmitriy; Khadka, Nimesh; Dean, Dennis R.

N2 reduction by nitrogenase involves the accumulation of four reducing equivalents at the active site FeMo-cofactor to form a state with two [Fe-H-Fe] bridging hydrides (denoted E4(4H), the Janus intermediate), and we recently demonstrated that the enzyme is activated to cleave the N≡N triple bond by the reductive elimination (re) of H2 from this state. We are exploring a photochemical approach to obtaining atomic-level details of the re activation process. We have shown that when E4(4H) at cryogenic temperatures is subjected to 450 nm irradiation in an EPR cavity, it cleanly undergoes photoinduced re of H2 to give a reactivemore » doubly-reduced intermediate, denoted E4(2H)*, which corresponds to the intermediate that would form if thermal dissociative re loss of H2 preceded N2 binding. Experiments reported here establish that photoinduced re occurs in two steps. Photolysis of E4(4H) generates an intermediate state that undergoes subsequent photoinduced conversion to [E4(2H)* + H2]. The experiments, supported by DFT calculation, indicate that the trapped intermediate is an H2 complex on the ground adiabatic potential energy suface that connects E4(4H) with [E4(2H)* + H2]. We suggest this complex, denoted E4(H2; 2H), is a thermally populated intermediate in the catalytically central re of H2 by E4(4H), and that N2 reacts with this complex to complete the activated conversion of [E4(4H) + N2] into [E4(2N2H) + H2].« less

Anaplastic lymphoma kinase (ALK) gene rearrangements in radiation-related human papillary thyroid carcinoma after the Chernobyl accident.

PubMed

Arndt, Annette; Steinestel, Konrad; Rump, Alexis; Sroya, Manveer; Bogdanova, Tetiana; Kovgan, Leonila; Port, Matthias; Abend, Michael; Eder, Stefan

2018-04-06

Childhood radiation exposure has been associated with increased papillary thyroid carcinoma (PTC) risk. The role of anaplastic lymphoma kinase (ALK) gene rearrangements in radiation-related PTC remains unclear, but STRN-ALK fusions have recently been detected in PTCs from radiation exposed persons after Chernobyl using targeted next-generation sequencing and RNA-seq. We investigated ALK and RET gene rearrangements as well as known driver point mutations in PTC tumours from 77 radiation-exposed patients (mean age at surgery 22.4 years) and PTC tumours from 19 non-exposed individuals after the Chernobyl accident. ALK rearrangements were detected by fluorescence in situ hybridisation (FISH) and confirmed with immunohistochemistry (IHC); point mutations in the BRAF and RAS genes were detected by DNA pyrosequencing. Among the 77 tumours from exposed persons, we identified 7 ALK rearrangements and none in the unexposed group. When combining ALK and RET rearrangements, we found 24 in the exposed (31.2%) compared to two (10.5%) in the unexposed group. Odds ratios increased significantly in a dose-dependent manner up to 6.2 (95%CI: 1.1, 34.7; p = 0.039) at Iodine-131 thyroid doses >500 mGy. In total, 27 cases carried point mutations of BRAF or RAS genes, yet logistic regression analysis failed to identify significant dose association. To our knowledge we are the first to describe ALK rearrangements in post-Chernobyl PTC samples using routine methods such as FISH and IHC. Our findings further support the hypothesis that gene rearrangements, but not oncogenic driver mutations, are associated with ionizing radiation-related tumour risk. IHC may represent an effective method for ALK-screening in PTCs with known radiation aetiology, which is of clinical value since oncogenic ALK activation might represent a valuable target for small molecule inhibitors. © 2018 The Authors The Journal of Pathology: Clinical Research published by The Pathological Society of Great Britain and

The role of immunohistochemical analysis in the evaluation of EML4-ALK gene rearrangement in lung cancer.

PubMed

Sullivan, Harold C; Fisher, Kevin E; Hoffa, Anne L; Wang, Jason; Saxe, Debra; Siddiqui, Momin T; Cohen, Cynthia

2015-04-01

Among the mutations described in non-small cell lung carcinoma is a rearrangement resulting from an inversion within chromosome 2p leading to the formation of a fusion gene, echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK). Fluorescence in situ hybridization (FISH) is the gold standard for the detection of ALK gene rearrangements. However, molecular methods are not readily available in all pathology laboratories. Immunohistochemistry (IHC) using an antibody directed against the EML4-ALK fusion protein provides a widely available alternative method of detection. We assessed whether IHC is a comparable and cost-effective alternative to FISH analysis for the detection of ALK gene rearrangements. A total of 110 non-small cell lung carcinoma cases (63 surgical/biopsy and 47 cytology specimens), previously tested for ALK gene rearrangements by FISH [7 (6.4%) positive for the rearrangement], were probed for the EML4-ALK fusion protein using a monoclonal EML4-ALK antibody, clone 5A4. Cells were considered to stain positive for ALK if >5% of cells showed cytoplasmic staining of at least grade 1 intensity (scale: 0 to 3). A cost analysis was performed using ALK IHC as a screening test. The sensitivity and specificity of the EML4-ALK IHC stain compared with ALK FISH analysis were 100% and 96%, respectively. All 7 FISH-positive cases stained positive by IHC, whereas 4 FISH-negative cases demonstrated positive staining. One of the 4 FISH-negative, IHC-positive cases harbored an EML4-ALK rearrangement by RT-PCR yielding 3 false-positive results overall. The κ agreement between IHC and FISH methods is 0.76 (substantial/excellent). The potential savings of implementing the ALK IHC as a screening method would be $10,418.21. Sensitivity of the EML4-ALK IHC stain is excellent (100%) but due to its suboptimal specificity, IHC cannot reliably supplant FISH analysis for the detection of ALK gene rearrangements. IHC shows promise as a screening tool

MYB and MYBL1 in adenoid cystic carcinoma: diversity in the mode of genomic rearrangement and transcripts.

PubMed

Togashi, Yuki; Dobashi, Akito; Sakata, Seiji; Sato, Yukiko; Baba, Satoko; Seto, Akira; Mitani, Hiroki; Kawabata, Kazuyoshi; Takeuchi, Kengo

2018-02-06

MYB-NFIB and MYBL1-NFIB have been reported in ~60% of adenoid cystic carcinoma cases, but driver alterations in the remaining ~40% of adenoid cystic carcinoma remain unclear. We examined 100 adenoid cystic carcinoma cases for MYB and MYBL1 locus rearrangements by fluorescence in situ hybridization (FISH) with originally designed probe sets using formalin-fixed paraffin-embedded materials. Approximately one-third of samples were also analyzed by fusion transcript-specific RT-PCR and capture RNA sequencing. In the 27 cases with frozen materials, MYB-NFIB and MYBL1-NFIB fusion transcripts were detected in 9 (33%) and 6 cases (22%) by RT-PCR, respectively. Meanwhile, high expression of MYB (18 cases, 67%) or MYBL1 (9 cases, 33%) was detected in all 27 cases in a mutually exclusive manner, regardless of its form (full-length, truncation, or fusion transcript). Interestingly, genomic rearrangements around the corresponding highly-expressed gene were observed in all 27 cases by FISH, suggesting a causative relationship between genomic rearrangements and gene expression. Among the 100 cases, including additional 73 cases, 97 harbored genomic rearrangements in the MYB (73 cases) or MYBL1 locus (24 cases) including 10 cases with atypical FISH patterns undetectable through ordinary split FISH approaches: breakpoints far distant from MYB (5 cases) and a small NFIB locus insertion into the MYB (3 cases) or MYBL1 locus (2 cases). In clinicopathological analyses, histological grade, primary tumor size, and lymph node metastasis were identified as prognostic factors, whereas MYB/MYBL1 rearrangements were not, but were associated with histological grade. In the present study, MYB or MYBL1 locus rearrangement was detected in nearly all adenoid cystic carcinoma cases, and therefore it would be a good diagnostic marker for adenoid cystic carcinoma. However, fusion transcript-specific RT-PCR for MYB-NFIB and MYBL1-NFIB and ordinary split FISH assays for MYB and MYBL1 were less

Photoinduced, Copper-Catalyzed Carbon-Carbon Bond Formation with Alkyl Electrophiles: Cyanation of Unactivated Secondary Alkyl Chlorides at Room Temperature.

PubMed

Ratani, Tanvi S; Bachman, Shoshana; Fu, Gregory C; Peters, Jonas C

2015-11-04

We have recently reported that, in the presence of light and a copper catalyst, nitrogen nucleophiles such as carbazoles and primary amides undergo C-N coupling with alkyl halides under mild conditions. In the present study, we establish that photoinduced, copper-catalyzed alkylation can also be applied to C-C bond formation, specifically, that the cyanation of unactivated secondary alkyl chlorides can be achieved at room temperature to afford nitriles, an important class of target molecules. Thus, in the presence of an inexpensive copper catalyst (CuI; no ligand coadditive) and a readily available light source (UVC compact fluorescent light bulb), a wide array of alkyl halides undergo cyanation in good yield. Our initial mechanistic studies are consistent with the hypothesis that an excited state of [Cu(CN)2](-) may play a role, via single electron transfer, in this process. This investigation provides a rare example of a transition metal-catalyzed cyanation of an alkyl halide, as well as the first illustrations of photoinduced, copper-catalyzed alkylation with either a carbon nucleophile or a secondary alkyl chloride.

Form--a matter of generation: the relation of generation, form, and function in the epigenetic theory of Caspar F. Wolff.

PubMed

Witt, Elke

2008-12-01

The question, how organisms obtain their specific complex and functional forms, was widely discussed during the eighteenth century. The theory of preformation, which was the dominant theory of generation, was challenged by different alternative epigenetic theories. By the end of the century it was the vitalist approach most famously advocated by Johann Friedrich Blumenbach that prevailed. Yet the alternative theory of generation brought forward by Caspar Friedrich Wolff was an important contribution to the treatment of this question. He turned his attention from the properties of matter and the forces acting on it towards the level of the processes of generation in order to explain the constitution of organismic forms. By regarding organic structures and forms to be the result of the lawfulness of ongoing processes, he opened up the possibility of a functional but non-teleological explanation of generation, and thereby provided an important complement to materialist and vitalist approaches.

Left Ventricular Dysfunction and Dilated Cardiomyopathy in Infants and Children with Wolff-Parkinson-White Syndrome in the Absence of Tachyarrhythmias

PubMed Central

2012-01-01

Left ventricular (LV) dysfunction and dilated cardiomyopathy (DCM) are rarely attributable to sustained or incessant tachyarrhythmias in infants and children with Wolff-Parkinson-White (WPW) syndrome. However, several recent reports suggested that significant LV dysfunction may develop in WPW syndrome in the absence of tachyarrhythmias. It is assumed that an asynchronous ventricular activation over the accessory pathway, especially right-sided, induces septal wall motion abnormalities, ventricular remodeling and ventricular dysfunction. The prognosis of DCM associated with asymptomatic WPW is excellent. Loss of ventricular pre-excitation results in mechanical resynchronization and reverse remodeling where LV function recovers completely. The reversible nature of LV dysfunction after loss of ventricular pre-excitation supports the causal relationship between LV dysfunction and ventricular pre-excitation. This review summarizes recent clinical and electrophysiological evidence for development of LV dysfunction or DCM in asymptomatic WPW syndrome, and discusses the underlying pathophysiological mechanism. PMID:23323117

Chromosomal rearrangements and karyotype evolution in carnivores revealed by chromosome painting

PubMed Central

Nie, W; Wang, J; Su, W; Wang, D; Tanomtong, A; Perelman, P L; Graphodatsky, A S; Yang, F

2012-01-01

Chromosomal evolution in carnivores has been revisited extensively using cross-species chromosome painting. Painting probes derived from flow-sorted chromosomes of the domestic dog, which has one of the most rearranged karyotypes in mammals and the highest dipoid number (2n=78) in carnivores, are a powerful tool in detecting both evolutionary intra- and inter-chromosomal rearrangements. However, only a few comparative maps have been established between dog and other non-Canidae species. Here, we extended cross-species painting with dog probes to seven more species representing six carnivore families: Eurasian lynx (Lynx lynx), the stone marten (Martes foina), the small Indian civet (Viverricula indica), the Asian palm civet (Paradoxurus hermaphrodites), Javan mongoose (Hepestes javanicas), the raccoon (Procyon lotor) and the giant panda (Ailuropoda melanoleuca). The numbers and positions of intra-chromosomal rearrangements were found to differ among these carnivore species. A comparative map between human and stone marten, and a map among the Yangtze finless porpoise (Neophocaena phocaenoides asiaeorientalis), stone marten and human were also established to facilitate outgroup comparison and to integrate comparative maps between stone marten and other carnivores with such maps between human and other species. These comparative maps give further insight into genome evolution and karyotype phylogenetic relationships among carnivores, and will facilitate the transfer of gene mapping data from human, domestic dog and cat to other species. PMID:22086079

Droplet Digital PCR for Absolute Quantification of EML4-ALK Gene Rearrangement in Lung Adenocarcinoma.

PubMed

Wang, Qiushi; Yang, Xin; He, Yong; Ma, Qiang; Lin, Li; Fu, Ping; Xiao, Hualiang

2015-09-01

Crizotinib treatment significantly prolongs progression-free survival, increases response rates, and improves the quality of life in patients with ALK-positive non-small-cell lung cancer. Droplet Digital PCR (ddPCR), a recently developed technique with high sensitivity and specificity, was used in this study to evaluate the association between the abundance of ALK rearrangements and crizotinib effectiveness. FFPE tissues were obtained from 103 consecutive patients with lung adenocarcinoma. Fluorescent in situ hybridization (FISH) and ddPCR were performed. The results revealed that 14 (13.6%) of the 103 patients were positive by dual-color, break-apart FISH. Three variants (1, 2, and 3) of the EML4-ALK gene rearrangements were detected. Thirteen of 14 ALK-positive cases identified by FISH were confirmed by ddPCR (four with variant 1, two with variant 2, and seven with variant 3). The case missed by ddPCR was identified as KIF5B-ALK gene rearrangement by PCR-based direct sequencing. Sixteen patients were detected with low copy numbers of EML4-ALK gene rearrangement, which failed to meet the positive cutoff point of FISH. Two of them responded well to crizotinib after unsuccessful chemotherapy. Our study indicates that ddPCR can be used as a molecular analytical tool to accurately measure the EML4-ALK rearrangement copy numbers in FFPE samples of lung adenocarcinoma patients. Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.

PubMed

Bowles, Neil E; Jou, Chuanchau J; Arrington, Cammon B; Kennedy, Brett J; Earl, Aubree; Matsunami, Norisada; Meyers, Lindsay L; Etheridge, Susan P; Saarel, Elizabeth V; Bleyl, Steven B; Yost, H Joseph; Yandell, Mark; Leppert, Mark F; Tristani-Firouzi, Martin; Gruber, Peter J

2015-12-01

Wolff-Parkinson-White (WPW) syndrome is a common cause of supraventricular tachycardia that carries a risk of sudden cardiac death. To date, mutations in only one gene, PRKAG2, which encodes the 5'-AMP-activated protein kinase subunit γ-2, have been identified as causative for WPW. DNA samples from five members of a family with WPW were analyzed by exome sequencing. We applied recently designed prioritization strategies (VAAST/pedigree VAAST) coupled with an ontology-based algorithm (Phevor) that reduced the number of potentially damaging variants to 10: a variant in KCNE2 previously associated with Long QT syndrome was also identified. Of these 11 variants, only MYH6 p.E1885K segregated with the WPW phenotype in all affected individuals and was absent in 10 unaffected family members. This variant was predicted to be damaging by in silico methods and is not present in the 1,000 genome and NHLBI exome sequencing project databases. Screening of a replication cohort of 47 unrelated WPW patients did not identify other likely causative variants in PRKAG2 or MYH6. MYH6 variants have been identified in patients with atrial septal defects, cardiomyopathies, and sick sinus syndrome. Our data highlight the pleiotropic nature of phenotypes associated with defects in this gene. © 2015 Wiley Periodicals, Inc.

Impact of solar UV radiation on toxicity of ZnO nanoparticles through photocatalytic reactive oxygen species (ROS) generation and photo-induced dissolution

EPA Science Inventory

The present study investigated the impact of solar UV radiation on ZnO nanoparticle toxicity through photocatalytic ROS generation and photo-induced dissolution. Toxicity of ZnO nanoparticles to Daphnia magna was examined under laboratory light versus simulated solar UV radiatio...

Enzymatic-induced upconversion photoinduced electron transfer for sensing tyrosine in human serum.

PubMed

Wu, Qiongqiong; Fang, Aijin; Li, Haitao; Zhang, Youyu; Yao, Shouzhuo

2016-03-15

This paper reports a novel nanosensor for tyrosine based on photoinduced electron-transfer (PET) between NaYF4:Yb, Tm upconversion nanoparticles (UCNPs) and melanin-like polymers. Melanin-like films were obtained from catalytic oxidation of tyrosine by tyrosinase, and deposited on the surface of UCNPs, and then quenched the fluorescence of UCNPs. Under the optimized conditions, the fluorescence quenching of UCNPs showed a good linear response to tyrosine concentration in the range of 0.8-100 μΜ with a detection limit of 1.1 μΜ. Meanwhile, it showed good sensitivity, stability and has been successfully applied to the detection of tyrosine in human serum. Copyright © 2015 Elsevier B.V. All rights reserved.

Deuterium enrichment by selective photo-induced dissociation of an organic carbonyl compound

DOEpatents

Marling, John B.

1981-01-01

A method for producing a deuterium enriched material by photoinduced dissociation which uses as the working material a gas phase photolytically dissociable organic carbonyl compound containing at least one hydrogen atom bonded to an atom which is adjacent to a carbonyl group and consisting of molecules wherein said hydrogen atom is present as deuterium and molecules wherein said hydrogen atom is present as another isotope of hydrogen. The organic carbonyl compound is subjected to intense infrared radiation at a preselected wavelength to selectively excite and thereby induce dissociation of the deuterium containing species to yield a deuterium enriched stable molecular product. Undissociated carbonyl compound, depleted in deuterium, is preferably redeuterated for reuse.

Cytomorphology of non-small cell lung carcinoma with anaplastic lymphoma kinase gene rearrangement.

PubMed

Toll, Adam D; Maleki, Zahra

2015-01-01

Anaplastic lymphoma kinase (ALK) is a receptor tyrosine kinase demonstrating activating mutations in several malignancies including a subset (1-5%) of non-small cell lung carcinomas (NSCLC). Prior work examining, the histologic features of these tumors found a spectrum of findings, notably a solid/acinar pattern, as well as a mucinous cribriform pattern. We present the first study to date describing the cytomorphology of NSCLC harboring ALK rearrangements. A retrospective database search was conducted to identify cytologic specimens of NSCLC demonstrating ALK rearrangement. Cytogenetic analysis was performed with fluorescence in situ hybridization. A total of 12 patients were identified, 10 with available material. Cellular morphology and smear background was evaluated in the study group, as well as control cases lacking ALK rearrangement. A total of 25 specimens from 10 patients were obtained. Five patients never smoked, and four patients had a remote smoking history. ALK rearrangements were identified in cells with unique cytologic characteristics. All cases demonstrated moderate to poor differentiation with a predominance of single cells showing anisonucleosis and frequent intracytoplasmic neutrophils. The control cases showed cells with smaller, less pleomorphic nuclei, and smaller nucleoli with more clusters/tissue fragments. Several unique cytomorphologic features were consistently identified in the study population relative to the control population and include a prominence of single, markedly enlarged tumor cells with plasmacytoid features and anisonucleosis, as well as intracytoplasmic neutrophils. Larger studies are warranted to confirm our preliminary findings, as these features may help establish a more cost-effective means to select patients being tested for ALK mutational analysis. © 2014 Wiley Periodicals, Inc.

Ring Expansion and Rearrangements of Rhodium(II) Azavinyl Carbenes

PubMed Central

Selander, Nicklas; Worrell, Brady T.

2013-01-01

An efficient, regioselective and convergent method for the ring expansion and rearrangement of 1-sulfonyl-1,2,3-triazoles under rhodium(II)-catalyzed conditions is described. These denitrogenative reactions form substituted enaminone and olefin-based products, which in the former case can be further functionalized to unique products rendering the sulfonyl triazole traceless. PMID:23161725

ALK and ROS1 rearrangements, coexistence and treatment in epidermal growth factor receptor-wild type lung adenocarcinoma: a multicenter study of 732 cases.

PubMed

Song, Zhengbo; Zheng, Yuhui; Wang, Xuzhou; Su, Haiyan; Zhang, Yiping; Song, Yong

2017-10-01

Anaplastic lymphoma kinase (ALK) and c-ros oncogene 1 (ROS1) rearrangements represent two most frequent fusion targets in lung adenocarcinoma. Our study was intended to explore the clinicopathological characteristics, coexistence and treatment of ALK/ROS1-rearranged patients of lung adenocarcinoma without epidermal growth factor receptor (EGFR) mutation. Patients with wild-type EGFR mutation were screened for ALK/ROS1 at four domestic hospitals. ALK/ROS1 rearrangements were detected by reverse transcription-polymerase chain reaction (RT-PCR). Progression-free survival (PFS) curve was plotted with the Kaplan-Meier method. Among 732 eligible cases, ALK and ROS1 rearrangements were detected in 89 (12.2%) and 32 (4.4%) patients respectively. One patient harbored coexisting ALK/ROS1 fusion. Both ALK and ROS1-positive phenotypes were predominantly detected in younger non-smokers. More ALK/ROS1-rearranged patients were correlated with the expressions of TTF1, napsin A and solid predominant adenocarcinoma subtype. Thirty-three ALK and six ROS1 rearrangement patients received crizotinib treatment at an advanced stage. The median PFS was 9.5 months for ALK-positive patients and it was not attained in ROS1-rearranged counterparts. The frequency of ALK and ROS1 rearrangements is elevated in EGFR-wild-type patients and the phenomenon of coexisting ALK/ROS1 has remained extremely rare. The rearrangements of ALK/ROS1 are correlated with age, smoking status, expressions of TTF1 & napsin A and solid predominant adenocarcinoma subtype.

Compositions and methods for detecting gene rearrangements and translocations

DOEpatents

Rowley, Janet D.; Diaz, Manuel O.

2000-01-01

Disclosed is a series of nucleic acid probes for use in diagnosing and monitoring certain types of leukemia using, e.g., Southern and Northern blot analyses and fluorescence in situ hybridization (FISH). These probes detect rearrangements, such as translocations involving chromosome band 11q23 with other chromosomes bands, including 4q21, 6q27, 9p22, 19p13.3, in both dividing leukemic cells and interphase nuclei. The breakpoints in all such translocations are clustered within an 8.3 kb BamHI genomic region of the MLL gene. A novel 0.7 kb BamH1 cDNA fragment derived from this gene detects rearrangements on Southern blot analysis with a single BamHI restriction digest in all patients with the common 11q23 translocations and in patients with other 11q23 anomalies. Northern blot analyses are presented demonstrating that the MLL gene has multiple transcripts and that transcript size differentiates leukemic cells from normal cells. Also disclosed are MLL fusion proteins, MLL protein domains and anti-MLL antibodies.

[3,3]-Sigmatropic rearrangements: recent applications in the total synthesis of natural products†

PubMed Central

Ilardi, Elizabeth A.; Stivala, Craig E.

2014-01-01

Among the fundamental chemical transformations in organic synthesis, the [3,3]-sigmatropic rearrangement occupies a unique position as a powerful, reliable, and well-defined method for the stereoselective construction of carbon–carbon or carbon–heteroatom bonds. While many other reactions can unite two subunits and create a new bond, the strengths of sigmatropic rearrangements derive from their ability to enable structural reorganization with unmatched build-up of complexity. Recent applications that illustrate [3,3]-sigmatropic processes as a key concept in the synthesis of complex natural products are described in this tutorial review, covering literature from about 2001 through early 2009. PMID:19847347

Photo-induced toxicity of titanium dioxide nanoparticles to Daphnia magna under natural sunlight.

PubMed

Mansfield, C M; Alloy, M M; Hamilton, J; Verbeck, G F; Newton, K; Klaine, S J; Roberts, A P

2015-02-01

Titanium dioxide nanoparticles (TiO2 NP) are one of the most abundantly utilized nanoparticles in the world. Studies have demonstrated the ability of the anatase crystal of TiO2 NP to produce reactive oxygen species (ROS) in the presence of ultraviolet radiation (UVR), a co-exposure likely to occur in aquatic ecosystems. The goal of this study was to examine the photo-induced toxicity of anatase TiO2 NP under natural sunlight to Daphnia magna. D. magna were exposed to a range of UVR intensities and anatase TiO2 concentrations in an outdoor exposure system using the sun as the source of UVR. Different UVR intensities were achieved using UVR opaque and transparent plastics. AnataseTiO2-NP demonstrated the reciprocal relationship seen in other phototoxic compounds such as polycyclic aromatic hydrocarbons (PAHs) at higher UVR treatments. The calculated 8h LC50 of anatase TiO2 NP was 139 ppb under full intensity ambient natural sunlight, 778 ppb under 50% natural sunlight, and >500 ppm under 10% natural sunlight. Mortality was also compared between animals allowed to accumulate a body burden of anatase TiO2 for 1h and organisms whose first exposure to anatase TiO2 aqueous suspensions occurred under UVR. A significantly greater toxic effect was observed in aqueous, low body burden suspensions than that of TiO2 1h body burdens, which is dissimilar from the model presented in PAHs. Anatase TiO2 presents a unique photo-induced toxic model that is different than that of established phototoxic compounds. Copyright © 2014 Elsevier Ltd. All rights reserved.

Analyzing Somatic Genome Rearrangements in Human Cancers by Using Whole-Exome Sequencing | Office of Cancer Genomics

Cancer.gov

Although exome sequencing data are generated primarily to detect single-nucleotide variants and indels, they can also be used to identify a subset of genomic rearrangements whose breakpoints are located in or near exons. Using >4,600 tumor and normal pairs across 15 cancer types, we identified over 9,000 high confidence somatic rearrangements, including a large number of gene fusions.

Wolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family

PubMed Central

de Paula van der Steld, Lenises; Campuzano, Oscar; Pérez-Serra, Alexandra; de Barros Zamorano, Mabel Moura; Matos, Selma Sousa; Brugada, Ramon

2017-01-01

Case series Patient: — Final Diagnosis: PRKAG2 syndrome Symptoms: Palpitation • dyspnea and fatigue • syncope Medication: — Clinical Procedure: Radiofrequency catheter ablation • pacemaker implantion • antiarrhythmic drugs Specialty: Cardiology Objective: Rare disease Background: PRKAG2 syndrome diagnosis is already well-defined as Wolff-Parkinson-White syndrome (WPW), ventricular hypertrophy (VH) due to glycogen accumulation, and conduction system disease (CSD). Because of its rarity, there is a lack of literature focused on the treatment. The present study aimed to describe appropriate strategies for the treatment of affected family members with PRKAG2 syndrome with a long follow-up period. Case Report: We studied 60 selected individuals from 84 family members (32 males, 53.3%) (mean age 27±16 years). Patients with WPW and/or VH were placed in a group of 18 individuals, in which 11 (61.1%) had VH and WPW, 6 (33.3%) had isolated WPW, and 1 (5.6%) had isolated VH. Palpitations occurred in 16 patients (88.9%), chest pain in 11 (61.1%), dizziness in 13 (72.2%), syncope in 15 (83.3%), and dyspnea in 13 (72%). Sudden cardiac death (SCD) occurred in 2 (11.1%), and 2 patients with cardiac arrest (CA) had asystole and pre-excited atrial flutter-fibrillation (AFL and AF) as the documented mechanism. Transient ischemic attack (TIA) and learning/language disabilities with delayed development were observed. Genetic analysis identified a new missense pathogenic variant (p.K290I) in the PRKAG2 gene. Cardiac histopathology demonstrated the predominance of vacuoles containing glycogen derivative and fibrosis. The treatment was based on hypertension and diabetes mellitus (DM) control, antiarrhythmic drugs (AD), anticoagulation, and radiofrequency catheter ablation (RCA). Six patients (33.3%) underwent pacemaker implantation (PM). Conclusions: The present study describes the clinical treatment for a rare cardiac syndrome caused by a PRKAG2 mutation. PMID:28690312

Early repolarization in Wolff-Parkinson-White syndrome: prevalence and clinical significance.

PubMed

Mizumaki, Koichi; Nishida, Kunihiro; Iwamoto, Jotaro; Nakatani, Yosuke; Yamaguchi, Yoshiaki; Sakamoto, Tamotsu; Tsuneda, Takayuki; Inoue, Hiroshi; Sakabe, Masao; Fujiki, Akira

2011-08-01

Idiopathic ventricular fibrillation (IVF) with early repolarization (ER) has recently been reported; however, ER is a common finding in healthy subjects and is also found sporadically in patients with Wolff-Parkinson-White (WPW) syndrome. The present study was designed to evaluate the prevalence and clinical significance of ER in patients with WPW syndrome. One hundred and eleven patients with WPW syndrome were studied retrospectively. Early repolarization was defined as QRS slurring or notching with J-point elevation ≥ 1 mm. The prevalence of ER was determined before and after successful catheter ablation. Before ablation, ER was found in 35 of 75 patients with a left free wall, 6 of 23 with a right free wall, and 7 of 13 with a septal accessory pathway (48 of 111, 43% as a whole). Early repolarization was always observed in leads with positive deflection of the initial part of the delta wave. After successful ablation of accessory pathways, ER was preserved in 28 (25%), disappeared in 20 (18%), and newly developed in 8 (7%) patients. In the remaining 55 (50%) patients, ER was not observed either before or after ablation. In patients with persistent ER, the amplitude and width of ER were significantly decreased 3-7 days after the ablation (1.7 ± 0.7 vs. 1.4 ± 0.6 mm, P < 0.005 and 42 ± 11 vs. 34 ± 9 ms, P < 0.001, respectively). In patients with WPW syndrome, ER could be partly related to early depolarization through the accessory pathway. However, persistent ER and new ER appearing after the ablation were frequently found. Therefore, in these patients, mechanisms other than early depolarization may be involved in the genesis of ER.

Clinicopathological and Demographical Characteristics of Non-Small Cell Lung Cancer Patients with ALK Rearrangements: A Systematic Review and Meta-Analysis

PubMed Central

Wan, Huanying; Shi, Guochao; Niu, Wenquan

2014-01-01

Objective This meta-analysis aimed to comprehensively examine the relationship between the clinicopathological and demographical characteristics and ALK rearrangements in patients with non-small cell lung cancer (NSCLC). Methods and Main Findings In total, 62 qualified articles including 1178 ALK rearranged cases from 20541 NSCLC patients were analyzed, and the data were extracted independently by two investigators. NSCLC patients with ALK rearrangements tended to be younger than those without (mean difference: −7.16 years; 95% confidence interval (95% CI): −9.35 to −4.96; P<0.00001), even across subgroups by race. Compared with female NSCLC patients, the odds ratio (OR) of carrying ALK rearrangements was reduced by 28% (95% CI: 0.58–0.90; P = 0.004) in males, and this reduction was potentiated in Asians, yet in opposite direction in Caucasians. Likewise, smokers were less likely to have ALK rearrangements than never-smokers (OR = 0.33; 95% CI: 0.25–0.44; P<0.00001), even in race-stratified subgroups. Moreover, compared with NSCLC patients with tumor stage IV, ALK rearrangements were underrepresented in those with tumor stage I–III (OR = 0.58; 95% CI: 0.44–0.78; P = 0.0002). Patients with lung adenocarcinomas had a significantly higher rate of ALK rearrangements (7.2%) than patients with non-adenocarcinoma (2.0%) (OR = 2.25; 95% CI: 1.54–3.27; P<0.0001). Conclusion Our findings demonstrate that ALK rearrangements tended to be present in NSCLC patients with no smoking habit, younger age and tumor stage IV. Moreover, race, age, gender, smoking status, tumor stage and histology might be potential sources of heterogeneity. PMID:24959902

Quantum modeling of ultrafast photoinduced charge separation

NASA Astrophysics Data System (ADS)

Rozzi, Carlo Andrea; Troiani, Filippo; Tavernelli, Ivano

2018-01-01

Phenomena involving electron transfer are ubiquitous in nature, photosynthesis and enzymes or protein activity being prominent examples. Their deep understanding thus represents a mandatory scientific goal. Moreover, controlling the separation of photogenerated charges is a crucial prerequisite in many applicative contexts, including quantum electronics, photo-electrochemical water splitting, photocatalytic dye degradation, and energy conversion. In particular, photoinduced charge separation is the pivotal step driving the storage of sun light into electrical or chemical energy. If properly mastered, these processes may also allow us to achieve a better command of information storage at the nanoscale, as required for the development of molecular electronics, optical switching, or quantum technologies, amongst others. In this Topical Review we survey recent progress in the understanding of ultrafast charge separation from photoexcited states. We report the state-of-the-art of the observation and theoretical description of charge separation phenomena in the ultrafast regime mainly focusing on molecular- and nano-sized solar energy conversion systems. In particular, we examine different proposed mechanisms driving ultrafast charge dynamics, with particular regard to the role of quantum coherence and electron-nuclear coupling, and link experimental observations to theoretical approaches based either on model Hamiltonians or on first principles simulations.

CRKL mediates EML4-ALK signaling and is a potential therapeutic target for ALK-rearranged lung adenocarcinoma.

PubMed

An, Rong; Wang, Yisong; Voeller, Donna; Gower, Arjan; Kim, In-Kyu; Zhang, Yu-Wen; Giaccone, Giuseppe

2016-05-17

Anaplastic lymphoma kinase (ALK) gene rearrangements are oncogenic drivers in a small subset of patients with non-small-cell lung cancer (NSCLC). The ALK inhibitors are highly effective in NSCLC patients harboring ALK rearrangements; however, most patients acquire resistance to the therapy following an initial response. Mechanisms of acquired resistance are complex. We used LC-MS/MS-based phosphotyrosine-peptide profiling in the EML4-ALK rearranged H3122 and H2228 cells treated with ALK inhibitors, to identify downstream effectors of ALK. We then used Western blot, siRNA experiments, cell proliferation, viability and migration assays to validate our findings. We identified CRKL as a novel downstream effector of ALK signaling. We demonstrated that CRKL tyrosine phosphorylation was repressed by pharmacological inhibition or small interfering RNA (siRNA) knockdown of ALK in the ALK-rearranged cells. More importantly, CRKL knockdown attenuated their cell proliferation, viability, and migration, but it had no effect on ALK phosphorylation and expression in these cells. Furthermore, CRKL tyrosine phosphorylation was inhibited by dasatinib (an inhibitor of ABL and SRC kinases), which in combination with the ALK inhibitor crizotinib displayed a synergistic inhibitory effect in vitro. In conclusion, our study suggests that CRKL is a key downstream effector of ALK, and combined inhibition of ALK and CRKL may represent an effective strategy for treating ALK-rearranged NSCLC patients.

Engineering interfacial photo-induced charge transfer based on nanobamboo array architecture for efficient solar-to-chemical energy conversion.

PubMed

Wang, Xiaotian; Liow, Chihao; Bisht, Ankit; Liu, Xinfeng; Sum, Tze Chien; Chen, Xiaodong; Li, Shuzhou

2015-04-01

Engineering interfacial photo-induced charge transfer for highly synergistic photocatalysis is successfully realized based on nanobamboo array architecture. Programmable assemblies of various components and heterogeneous interfaces, and, in turn, engineering of the energy band structure along the charge transport pathways, play a critical role in generating excellent synergistic effects of multiple components for promoting photocatalytic efficiency. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Photo-induced spatial modulation of THz waves: opportunities and limitations.

PubMed

Kannegulla, Akash; Shams, Md Itrat Bin; Liu, Lei; Cheng, Li-Jing

2015-12-14

Programmable conductive patterns created by photoexcitation of semiconductor substrates using digital light processing (DLP) provides a versatile approach for spatial and temporal modulation of THz waves. The reconfigurable nature of the technology has great potential in implementing several promising THz applications, such as THz beam steering, THz imaging or THz remote sensing, in a simple, cost-effective manner. In this paper, we provide physical insight about how the semiconducting materials, substrate dimension, optical illumination wavelength and illumination size impact the performance of THz modulation, including modulation depth, modulation speed and spatial resolution. The analysis establishes design guidelines for the development of photo-induced THz modulation technology. Evolved from the theoretical analysis, a new mesa array technology composed by a matrix of sub-THz wavelength structures is introduced to maximize both spatial resolution and modulation depth for THz modulation with low-power photoexcitation by prohibiting the lateral diffusion of photogenerated carriers.

Bimodal Exciplex Formation in Bimolecular Photoinduced Electron Transfer Revealed by Ultrafast Time-Resolved Infrared Absorption.

PubMed

Koch, Marius; Licari, Giuseppe; Vauthey, Eric

2015-09-03

The dynamics of a moderately exergonic photoinduced charge separation has been investigated by ultrafast time-resolved infrared absorption with the dimethylanthracene/phthalonitrile donor/acceptor pair in solvents covering a broad range of polarity. A distinct spectral signature of an exciplex could be identified in the -C≡N stretching region. On the basis of quantum chemistry calculations, the 4-5 times larger width of this band compared to those of the ions and of the locally excited donor bands is explained by a dynamic distribution of exciplex geometry with different mutual orientations and distances of the constituents and, thus, with varying charge-transfer character. Although spectrally similar, two types of exciplexes could be distinguished by their dynamics: short-lived, "tight", exciplexes generated upon static quenching and longer-lived, "loose", exciplexes formed upon dynamic quenching in parallel with ion pairs. Tight exciplexes were observed in all solvents, except in the least polar diethyl ether where quenching is slower than diffusion. The product distribution of the dynamic quenching depends strongly on the solvent polarity: whereas no significant loose exciplex population could be detected in acetonitrile, both exciplex and ion pair are generated in less polar solvents, with the relative population of exciplex increasing with decreasing solvent polarity. These results are compared with those reported previously with donor/acceptor pairs in different driving force regimes to obtain a comprehensive picture of the role of the exciplexes in bimolecular photoinduced charge separation.

Phospholipid micelle-based magneto-plasmonic nanoformulation for magnetic field-directed, imaging-guided photo-induced cancer therapy.

PubMed

Ohulchanskyy, Tymish Y; Kopwitthaya, Atcha; Jeon, Mansik; Guo, Moran; Law, Wing-Cheung; Furlani, Edward P; Kim, Chulhong; Prasad, Paras N

2013-11-01

We present a magnetoplasmonic nanoplatform combining gold nanorods (GNR) and iron-oxide nanoparticles within phospholipid-based polymeric nanomicelles (PGRFe). The gold nanorods exhibit plasmon resonance absorbance at near infrared wavelengths to enable photoacoustic imaging and photothermal therapy, while the Fe3O4 nanoparticles enable magnetophoretic control of the nanoformulation. The fabricated nanoformulation can be directed and concentrated by an external magnetic field, which provides enhancement of a photoacoustic signal. Application of an external field also leads to enhanced uptake of the magnetoplasmonic formulation by cancer cells in vitro. Under laser irradiation at the wavelength of the GNR absorption peak, the PGRFe formulation efficiently generates plasmonic nanobubbles within cancer cells, as visualized by confocal microscopy, causing cell destruction. The combined magnetic and plasmonic functionalities of the nanoplatform enable magnetic field-directed, imaging-guided, enhanced photo-induced cancer therapy. In this study, a nano-formulation of gold nanorods and iron oxide nanoparticles is presented using a phospholipid micelle-based delivery system for magnetic field-directed and imaging-guided photo-induced cancer therapy. The gold nanorods enable photoacoustic imaging and photothermal therapy, while the Fe3O4 nanoparticles enable magnetophoretic control of the formulation. This and similar systems could enable more precise and efficient cancer therapy, hopefully in the near future, after additional testing. Copyright © 2013 Elsevier Inc. All rights reserved.

Malignant perivascular epithelioid cell neoplasm (PEComa) of the urinary bladder with TFE3 gene rearrangement: clinicopathologic, immunohistochemical, and molecular features.

PubMed

Williamson, Sean R; Bunde, Paula J; Montironi, Rodolfo; Lopez-Beltran, Antonio; Zhang, Shaobo; Wang, Mingsheng; Maclennan, Gregory T; Cheng, Liang

2013-10-01

Recently, a small subgroup of PEComas has been recognized to harbor rearrangements involving TFE3, a gene also involved in rearrangements in translocation-associated renal cell carcinomas and alveolar soft part sarcomas. The few TFE3 rearrangement-associated PEComas reported have exhibited distinctive pathologic characteristics contrasting to PEComas in general, including predominantly epithelioid nested or alveolar morphology and underexpression of muscle markers by immunohistochemistry. In this study, we report the clinicopathologic, immunohistochemical, and molecular features of a primary urinary bladder PEComa diagnosed by transurethral resection in a 55-year-old woman that clinically mimicked urothelial carcinoma. Light microscopy demonstrated mixed spindle cell and epithelioid morphology with the epithelioid component preferentially associated with blood vessels. Immunohistochemistry revealed positive staining for HMB45, tyrosinase, MiTF, cathepsin K, smooth muscle actin, and TFE3 protein. Fluorescence in situ hybridization for the TFE3 gene revealed a split signal pattern, indicating TFE3 rearrangement. X chromosome inactivation analysis demonstrated a clonal pattern despite the heterogenous appearance of the tumor. Unfortunately, despite surgical resection and sarcoma-directed therapy, the patient died of metastatic disease 12 months after diagnosis. This report adds to the known data regarding urinary bladder PEComas and PEComas with TFE3 rearrangement, indicating that both can pursue an aggressive course. Although the few reported TFE3-rearranged PEComas have predominantly lacked a spindle cell component and expression of smooth muscle actin and MiTF by immunohistochemistry, the findings in this study indicate that these features are sometimes present in TFE3-rearranged PEComas.

Efficacy of a cancer vaccine against ALK-rearranged lung tumors

PubMed Central

Voena, Claudia; Di Giacomo, Filomena; Longo, Dario Livio; Castella, Barbara; Merlo, Maria Elena Boggio; Ambrogio, Chiara; Wang, Qi; Minero, Valerio Giacomo; Poggio, Teresa; Martinengo, Cinzia; D'Amico, Lucia; Panizza, Elena; Mologni, Luca; Cavallo, Federica; Altruda, Fiorella; Butaney, Mohit; Capelletti, Marzia; Inghirami, Giorgio; Jänne, Pasi A.; Chiarle, Roberto

2015-01-01

Non-small cell lung cancer (NSCLC) harboring chromosomal rearrangements of the anaplastic lymphoma kinase (ALK) gene is treated with ALK tyrosine kinase inhibitors (TKIs), but is successful for only a limited amount of time; most cases relapse due to the development of drug resistance. Here we show that a vaccine against ALK induced a strong and specific immune response that both prophylactically and therapeutically impaired the growth of ALK-positive lung tumors in mouse models. The ALK vaccine was efficacious also in combination with ALK TKI treatment and significantly delayed tumor relapses after TKI suspension. We found that lung tumors containing ALK rearrangements induced an immunosuppressive microenvironment, regulating the expression of PD-L1 on the surface of lung tumor cells. High PD-L1 expression reduced ALK vaccine efficacy, which could be restored by administration of anti-PD-1 immunotherapy. Thus, combinations of ALK vaccine with TKIs and immune checkpoint blockade therapies might represent a powerful strategy for the treatment of ALK-driven NSCLC. PMID:26419961

Detection of isotype switch rearrangement in bulk culture by PCR.

PubMed

Max, E E; Mills, F C; Chu, C

2001-05-01

When a B lymphocyte changes from synthesizing IgM to synthesizing IgG, IgA, or IgE, this isotype switch is generally accompanied by a unique DNA rearrangement. The protocols in this unit describe two polymerase chain reaction (PCR)-based strategies for detecting switch rearrangements in bulk culture. The first involves direct PCR across the switch junctions, providing the opportunity for characterizing the recombination products by nucleotide sequence analysis; however, because of characteristics inherent to the PCR methodology this strategy cannot easily be used as a quantitative assay for recombination. A support protocol details the preparation of the 5' Su PCR probe for this protocol. The second basic protocol describes a method known as digestion-circularization PCR (DCPCR) that is more amenable to quantitation but yields no information on structure of the recombination products. Both techniques should be capable of detecting reciprocal deletion circles as well as functional recombination products remaining on the expressed chromosome.

ALK and ROS1 rearrangements, coexistence and treatment in epidermal growth factor receptor-wild type lung adenocarcinoma: a multicenter study of 732 cases

PubMed Central

Song, Zhengbo; Zheng, Yuhui; Wang, Xuzhou; Su, Haiyan

2017-01-01

Background Anaplastic lymphoma kinase (ALK) and c-ros oncogene 1 (ROS1) rearrangements represent two most frequent fusion targets in lung adenocarcinoma. Our study was intended to explore the clinicopathological characteristics, coexistence and treatment of ALK/ROS1-rearranged patients of lung adenocarcinoma without epidermal growth factor receptor (EGFR) mutation. Methods Patients with wild-type EGFR mutation were screened for ALK/ROS1 at four domestic hospitals. ALK/ROS1 rearrangements were detected by reverse transcription-polymerase chain reaction (RT-PCR). Progression-free survival (PFS) curve was plotted with the Kaplan-Meier method. Results Among 732 eligible cases, ALK and ROS1 rearrangements were detected in 89 (12.2%) and 32 (4.4%) patients respectively. One patient harbored coexisting ALK/ROS1 fusion. Both ALK and ROS1-positive phenotypes were predominantly detected in younger non-smokers. More ALK/ROS1-rearranged patients were correlated with the expressions of TTF1, napsin A and solid predominant adenocarcinoma subtype. Thirty-three ALK and six ROS1 rearrangement patients received crizotinib treatment at an advanced stage. The median PFS was 9.5 months for ALK-positive patients and it was not attained in ROS1-rearranged counterparts. Conclusions The frequency of ALK and ROS1 rearrangements is elevated in EGFR-wild-type patients and the phenomenon of coexisting ALK/ROS1 has remained extremely rare. The rearrangements of ALK/ROS1 are correlated with age, smoking status, expressions of TTF1 & napsin A and solid predominant adenocarcinoma subtype. PMID:29268402

Targeting RET in Patients With RET-Rearranged Lung Cancers: Results From the Global, Multicenter RET Registry

PubMed Central

Milia, Julie; Filleron, Thomas; Wolf, Juergen; Carbone, David P.; Owen, Dwight; Camidge, Ross; Narayanan, Vignhesh; Doebele, Robert C.; Besse, Benjamin; Remon-Masip, Jordi; Janne, Pasi A.; Awad, Mark M.; Peled, Nir; Byoung, Chul-Cho; Karp, Daniel D.; Van Den Heuvel, Michael; Wakelee, Heather A.; Neal, Joel W.; Mok, Tony S.K.; Yang, James C.H.; Ou, Sai-Hong Ignatius; Pall, Georg; Froesch, Patrizia; Zalcman, Gérard; Gandara, David R.; Riess, Jonathan W.; Velcheti, Vamsidhar; Zeidler, Kristin; Diebold, Joachim; Früh, Martin; Michels, Sebastian; Monnet, Isabelle; Popat, Sanjay; Rosell, Rafael; Karachaliou, Niki; Rothschild, Sacha I.; Shih, Jin-Yuan; Warth, Arne; Muley, Thomas; Cabillic, Florian; Mazières, Julien; Drilon, Alexander

2017-01-01

Purpose In addition to prospective trials for non–small-cell lung cancers (NSCLCs) that are driven by less common genomic alterations, registries provide complementary information on patient response to targeted therapies. Here, we present the results of an international registry of patients with RET-rearranged NSCLCs, providing the largest data set, to our knowledge, on outcomes of RET-directed therapy thus far. Methods A global, multicenter network of thoracic oncologists identified patients with pathologically confirmed NSCLC that harbored a RET rearrangement. Molecular profiling was performed locally by reverse transcriptase polymerase chain reaction, fluorescence in situ hybridization, or next-generation sequencing. Anonymized data—clinical, pathologic, and molecular features—were collected centrally and analyzed by an independent statistician. Best response to RET tyrosine kinase inhibition administered outside of a clinical trial was determined by RECIST v1.1. Results By April 2016, 165 patients with RET-rearranged NSCLC from 29 centers across Europe, Asia, and the United States were accrued. Median age was 61 years (range, 29 to 89 years). The majority of patients were never smokers (63%) with lung adenocarcinomas (98%) and advanced disease (91%). The most frequent rearrangement was KIF5B-RET (72%). Of those patients, 53 received one or more RET tyrosine kinase inhibitors in sequence: cabozantinib (21 patients), vandetanib (11 patients), sunitinib (10 patients), sorafenib (two patients), alectinib (two patients), lenvatinib (two patients), nintedanib (two patients), ponatinib (two patients), and regorafenib (one patient). The rate of any complete or partial response to cabozantinib, vandetanib, and sunitinib was 37%, 18%, and 22%, respectively. Further responses were observed with lenvantinib and nintedanib. Median progression-free survival was 2.3 months (95% CI, 1.6 to 5.0 months), and median overall survival was 6.8 months (95% CI, 3.9 to 14

Dark and Photoinduced Cytotoxic Activity of the New Chlorophyll-a Derivatives with Oligoethylene Glycol Substituents on the Periphery of Their Macrocycles.

PubMed

Pylina, Yana I; Shadrin, Dmitry M; Shevchenko, Oksana G; Startseva, Olga M; Velegzhaninov, Igor O; Belykh, Dmitry V; Velegzhaninov, Ilya O

2017-01-05

In the present work, we investigated the dark and photoinduced cytotoxic activity of the new chlorophyll-a derivatives which contain the substituents of oligoethylene glycol on the periphery of their macrocycles. These compounds were tested using human cell lines to estimate their potential as photosensitizers for photodynamic therapy of cancer. It was shown that all the tested compounds have expressed photoinduced cytotoxic activity in vitro. Detailed study of the biological activity of one of the most perspective compound in this series-pyropheophorbide-a 17-diethylene glycol ester (Compound 21 ) was performed. This new compound is characterized by lower dark cytotoxicity and higher photoinduced cytotoxicity than previously described in a similar compound (DH-I-180-3) and clinically used Photolon TM . Using fluorescent microscopy, it was shown that Compound 21 quickly penetrates the cells. Analysis of caspase-3 activity indicated an apoptosis induction 40 min after exposure to red light (λ = 660 nm). The induction of DNA damages and apoptosis was shown using Comet assay. The results of expression analysis of the stress-response genes indicate an activation of the genes which control the cell cycle and detoxification of the free radicals after an exposure of HeLa cells to Compound 21 and to red light. High photodynamic activity of this compound and the ability to oxidize biomolecules was demonstrated on nuclear-free mice erythrocytes. In addition, it was shown that Compound 21 is effectively activated with low energy 700 nm light, which can penetrate deep into the tissue. Thus, Compound 21 is a prospective substance for development of the new drugs for photodynamic therapy of cancer.

A single oncogenic enhancer rearrangement causes concomitant EVI1 and GATA2 deregulation in leukemia.

PubMed

Gröschel, Stefan; Sanders, Mathijs A; Hoogenboezem, Remco; de Wit, Elzo; Bouwman, Britta A M; Erpelinck, Claudia; van der Velden, Vincent H J; Havermans, Marije; Avellino, Roberto; van Lom, Kirsten; Rombouts, Elwin J; van Duin, Mark; Döhner, Konstanze; Beverloo, H Berna; Bradner, James E; Döhner, Hartmut; Löwenberg, Bob; Valk, Peter J M; Bindels, Eric M J; de Laat, Wouter; Delwel, Ruud

2014-04-10

Chromosomal rearrangements without gene fusions have been implicated in leukemogenesis by causing deregulation of proto-oncogenes via relocation of cryptic regulatory DNA elements. AML with inv(3)/t(3;3) is associated with aberrant expression of the stem-cell regulator EVI1. Applying functional genomics and genome-engineering, we demonstrate that both 3q rearrangements reposition a distal GATA2 enhancer to ectopically activate EVI1 and simultaneously confer GATA2 functional haploinsufficiency, previously identified as the cause of sporadic familial AML/MDS and MonoMac/Emberger syndromes. Genomic excision of the ectopic enhancer restored EVI1 silencing and led to growth inhibition and differentiation of AML cells, which could be replicated by pharmacologic BET inhibition. Our data show that structural rearrangements involving the chromosomal repositioning of a single enhancer can cause deregulation of two unrelated distal genes, with cancer as the outcome. Copyright © 2014 Elsevier Inc. All rights reserved.

Brain metastases in patients with EGFR-mutated or ALK-rearranged non-small-cell lung cancers.

PubMed

Rangachari, Deepa; Yamaguchi, Norihiro; VanderLaan, Paul A; Folch, Erik; Mahadevan, Anand; Floyd, Scott R; Uhlmann, Erik J; Wong, Eric T; Dahlberg, Suzanne E; Huberman, Mark S; Costa, Daniel B

2015-04-01

Brain metastases (BM) are common in non-small-cell lung cancer (NSCLC). However, the baseline incidence and evolution of BM over time in oncogene-driven NSCLCs are seldom reported. In this study, we evaluated the frequency of BM in patients with epidermal growth factor receptor (EGFR)-mutated or anaplastic lymphoma kinase (ALK)-rearranged NSCLC. The presence of BM, clinicopathologic data, and tumor genotype were retrospectively compiled and analyzed from a cohort of 381 patients. We identified 86 EGFR-mutated (90.7% with metastatic disease; 85.9% received an EGFR inhibitor) and 23 ALK-rearranged (91.3% with metastatic disease; 85.7% received an ALK inhibitor) NSCLCs. BM were present in 24.4% of EGFR-mutated and 23.8% of ALK-rearranged NSCLCs at the time of diagnosis of advanced disease. This study did not demonstrate a difference in the cumulative incidence of BM over time between the two cohorts (EGFR/ALK cohort competing risk regression [CRR] coefficient of 0.78 [95% CI 0.44-1.39], p=0.41). In still living patients with advanced EGFR-mutated NSCLC, 34.2% had BM at 1 year, 38.4% at 2 years, 46.7% at 3 years, 48.7% at 4 years, and 52.9% at 5 years. In still living patients with advanced ALK-rearranged NSCLC, 23.8% had BM at 1 year, 45.5% at 2 years, and 58.4% at 3 years. BM are frequent in advanced EGFR-mutated or ALK-rearranged NSCLCs, with an estimated >45% of patients with CNS involvement by three years of survival with the use of targeted therapies. These data point toward the CNS as an important unmet clinical need in the evolving schema for personalized care in NSCLC. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

RET/PTC Rearrangements Are Associated with Elevated Postoperative TSH Levels and Multifocal Lesions in Papillary Thyroid Cancer without Concomitant Thyroid Benign Disease

PubMed Central

Su, Xuan; He, Caiyun; Ma, Jiangjun; Tang, Tao; Zhang, Xiao; Ye, Zulu; Long, Yakang; Shao, Qiong

2016-01-01

RET/PTC rearrangements, resulting in aberrant activity of the RET protein tyrosine kinase receptor, occur exclusively in papillary thyroid cancer (PTC). In this study, we examined the association between RET/PTC rearrangements and thyroid hormone homeostasis, and explored whether concomitant diseases such as nodular goiter and Hashimoto's thyroiditis influenced this association. A total of 114 patients diagnosed with PTC were enrolled in this study. Thyroid hormone levels, clinicopathological parameters and lifestyle were obtained through medical records and surgical pathology reports. RET/PTC rearrangements were detected using TaqMan RT-PCR and validated by direct sequencing. No RET/PTC rearrangements were detected in benign thyroid tissues. RET/PTC rearrangements were detected in 23.68% (27/114) of PTC tissues. No association between thyroid function, clinicopathological parameters and lifestyle was observed either in total thyroid cancer patients or the subgroup of patients with concomitant disease. In the subgroup of PTC patients without concomitant disease, RET/PTC rearrangement was associated with multifocal cancer (P = 0.018). RET/PTC rearrangement was also correlated with higher TSH levels at one month post-surgery (P = 0.037). Based on likelihood-ratio regression analysis, the RET/PTC-positive PTC cases showed an increased risk of multifocal cancers in the thyroid gland (OR = 5.57, 95% CI, 1.39–22.33). Our findings suggest that concomitant diseases such as nodular goiter and Hashimoto's thyroiditis in PTC may be a confounding factor when examining the effects of RET/PTC rearrangements. Excluding the potential effect of this confounding factor showed that RET/PTC may confer an increased risk for the development of multifocal cancers in the thyroid gland. Aberrantly increased post-operative levels of TSH were also associated with RET/PTC rearrangement. Together, our data provides useful information for the treatment of papillary thyroid cancer. PMID

Detection of gene expression changes at chromosomal rearrangement breakpoints in evolution

PubMed Central

2012-01-01

Background We study the relation between genome rearrangements, breakpoints and gene expression. Genome rearrangement research has been concerned with the creation of breakpoints and their position in the chromosome, but the functional consequences of individual breakpoints remain virtually unknown, and there are no direct genome-wide studies of breakpoints from this point of view. A question arises of what the biological consequences of breakpoint creation are, rather than just their structural aspects. The question is whether proximity to the site of a breakpoint event changes the activity of a gene. Results We investigate this by comparing the distribution of distances to the nearest breakpoint of genes that are differentially expressed with the distribution of the same distances for the entire gene complement. We study this in data on whole blood tissue in human versus macaque, and in cerebral cortex tissue in human versus chimpanzee. We find in both data sets that the distribution of distances to the nearest breakpoint of "changed expression genes" differs little from this distance calculated for the rest of the gene complement. In focusing on the changed expression genes closest to the breakpoints, however, we discover that several of these have previously been implicated in the literature as being connected to the evolutionary divergence of humans from other primates. Conclusions We conjecture that chromosomal rearrangements occasionally interrupt the regulatory configurations of genes close to the breakpoint, leading to changes in expression. PMID:22536904

MCMC genome rearrangement.

PubMed

Miklós, István

2003-10-01

As more and more genomes have been sequenced, genomic data is rapidly accumulating. Genome-wide mutations are believed more neutral than local mutations such as substitutions, insertions and deletions, therefore phylogenetic investigations based on inversions, transpositions and inverted transpositions are less biased by the hypothesis on neutral evolution. Although efficient algorithms exist for obtaining the inversion distance of two signed permutations, there is no reliable algorithm when both inversions and transpositions are considered. Moreover, different type of mutations happen with different rates, and it is not clear how to weight them in a distance based approach. We introduce a Markov Chain Monte Carlo method to genome rearrangement based on a stochastic model of evolution, which can estimate the number of different evolutionary events needed to sort a signed permutation. The performance of the method was tested on simulated data, and the estimated numbers of different types of mutations were reliable. Human and Drosophila mitochondrial data were also analysed with the new method. The mixing time of the Markov Chain is short both in terms of CPU times and number of proposals. The source code in C is available on request from the author.

Low rate of interchromosomal rearrangements during old radiation of gekkotan lizards (Squamata: Gekkota).

PubMed

Johnson Pokorná, Martina; Trifonov, Vladimir A; Rens, Willem; Ferguson-Smith, Malcolm A; Kratochvíl, Lukáš

2015-06-01

Gekkotan lizards are a highly specious (∼1600 described species) clade of squamate lizards with nearly cosmopolitan distribution in warmer areas. The clade is primarily nocturnal and forms an ecologically dominant part of the world nocturnal herpetofauna. However, molecular cytogenetic methods to study the evolution of karyotypes have not been widely applied in geckos. Our aim here was to uncover the extent of chromosomal rearrangements across the whole group Gekkota and to search for putative synapomorphies supporting the newly proposed phylogenetic relationships within this clade. We applied cross-species chromosome painting with the recently derived whole-chromosomal probes from the gekkonid species Gekko japonicus to members of the major gekkotan lineages. We included members of the families Diplodactylidae, Carphodactylidae, Pygopodidae, Eublepharidae, Phyllodactylidae and Gekkonidae. Our study demonstrates relatively high chromosome conservatism across the ancient group of gekkotan lizards. We documented that many changes in chromosomal shape across geckos can be attributed to intrachromosomal rearrangements. The documented rearrangements are not totally in agreement with the recently newly erected family Phyllodactylidae. The results also pointed to homoplasy, particularly in the reuse of chromosome breakpoints, in the evolution of gecko karyotypes.

Comparative genomics of Eucalyptus and Corymbia reveals low rates of genome structural rearrangement.

PubMed

Butler, J B; Vaillancourt, R E; Potts, B M; Lee, D J; King, G J; Baten, A; Shepherd, M; Freeman, J S

2017-05-22

Previous studies suggest genome structure is largely conserved between Eucalyptus species. However, it is unknown if this conservation extends to more divergent eucalypt taxa. We performed comparative genomics between the eucalypt genera Eucalyptus and Corymbia. Our results will facilitate transfer of genomic information between these important taxa and provide further insights into the rate of structural change in tree genomes. We constructed three high density linkage maps for two Corymbia species (Corymbia citriodora subsp. variegata and Corymbia torelliana) which were used to compare genome structure between both species and Eucalyptus grandis. Genome structure was highly conserved between the Corymbia species. However, the comparison of Corymbia and E. grandis suggests large (from 1-13 MB) intra-chromosomal rearrangements have occurred on seven of the 11 chromosomes. Most rearrangements were supported through comparisons of the three independent Corymbia maps to the E. grandis genome sequence, and to other independently constructed Eucalyptus linkage maps. These are the first large scale chromosomal rearrangements discovered between eucalypts. Nonetheless, in the general context of plants, the genomic structure of the two genera was remarkably conserved; adding to a growing body of evidence that conservation of genome structure is common amongst woody angiosperms.

MUC4 is a sensitive and extremely useful marker for sclerosing epithelioid fibrosarcoma: association with FUS gene rearrangement.

PubMed

Doyle, Leona A; Wang, Wei-Lien; Dal Cin, Paola; Lopez-Terrada, Dolores; Mertens, Fredrik; Lazar, Alexander J F; Fletcher, Christopher D M; Hornick, Jason L

2012-10-01

Sclerosing epithelioid fibrosarcoma (SEF) is a rare aggressive fibroblastic neoplasm composed of cords of epithelioid cells embedded in a dense collagenous stroma. The reported immunophenotype of SEF is nonspecific. Some SEF cases show morphologic and molecular overlap with low-grade fibromyxoid sarcoma (LGFMS), suggesting a relationship between these tumor types. MUC4 has recently been identified as a sensitive and specific marker for LGFMS; MUC4 expression was also observed in 2 tumors with hybrid features of SEF and LGFMS. We investigated MUC4 expression in SEF and other epithelioid soft tissue tumors to determine (1) the potential diagnostic utility of MUC4 for SEF and (2) the association between MUC4 expression and FUS rearrangement in SEF. Whole sections of 180 tumors were evaluated: 41 cases of SEF (including 29 "pure" SEF and 12 hybrid LGFMS-SEF), 20 epithelioid sarcomas, 11 clear cell sarcomas, 11 metastatic melanomas, 10 perivascular epithelioid cell tumors, 10 alveolar soft part sarcomas, 10 epithelioid angiosarcomas, 10 epithelioid hemangioendotheliomas, 10 epithelioid gastrointestinal stromal tumors, 10 myoepithelial carcinomas, 17 ossifying fibromyxoid tumors, 10 leiomyosarcomas, and 10 biphasic synovial sarcomas. Immunohistochemical analysis was performed after antigen retrieval using a mouse anti-MUC4 monoclonal antibody. Fluorescence in situ hybridization (FISH) was performed on 33 SEF cases using FUS break-apart probes. A subset of cases was also evaluated for EWSR1 and CREB3L2/L1 rearrangements by FISH. Strong diffuse cytoplasmic staining for MUC4 was observed in 32 of 41 (78%) cases of SEF, including all 12 hybrid tumors. FUS rearrangement was detected in 8 of 21 (38%) MUC4-positive cases of SEF with successful FISH studies. The prevalence of FUS rearrangement was similar in hybrid LGFMS-SEF (2 of 6; 33%) and SEF without an LGFMS component (6 of 15; 40%). FUS rearrangement was not detected in any cases of MUC4-negative SEF. Two hybrid tumors had

Atrial fibrillation with wide QRS tachycardia and undiagnosed Wolff-Parkinson-White syndrome: diagnostic and therapeutic dilemmas in a pediatric patient.

PubMed

Panduranga, Prashanth; Al-Farqani, Abdullah; Al-Rawahi, Najib

2012-11-01

A 10-year-old girl presented to the emergency department of a regional hospital with 1 episode of generalized tonic-clonic seizures. Postictal monitoring followed by a 12-lead electrocardiogram showed fast atrial fibrillation with intermittent wide QRS regular tachycardia. Immediately following this, her rhythm changed to wide QRS irregular tachycardia without hemodynamic compromise. She was suspected to have ventricular tachycardia and was treated with intravenous amiodarone with cardioversion to sinus rhythm. Subsequent electrocardiogram in sinus rhythm showed typical features of manifest Wolff-Parkinson-White (WPW) accessory pathway. This case illustrates the diagnostic and therapeutic dilemmas in patients with atrial fibrillation, wide QRS tachycardia, and undiagnosed WPW syndrome with antidromic conduction of atrial arrhythmias through the accessory pathway. Furthermore, this case demonstrates that undiagnosed wide QRS tachycardias need to be treated with drugs acting on the accessory pathway, thus keeping in mind underlying WPW syndrome as a possibility to avoid potentially catastrophic events.

Enantiospecific Detection of Chiral Nanosamples Using Photoinduced Force

NASA Astrophysics Data System (ADS)

Kamandi, Mohammad; Albooyeh, Mohammad; Guclu, Caner; Veysi, Mehdi; Zeng, Jinwei; Wickramasinghe, Kumar; Capolino, Filippo

2017-12-01

We propose a high-resolution microscopy technique for enantiospecific detection of chiral samples down to sub-100-nm size based on force measurement. We delve into the differential photoinduced optical force Δ F exerted on an achiral probe in the vicinity of a chiral sample when left and right circularly polarized beams separately excite the sample-probe interactive system. We analytically prove that Δ F is entangled with the enantiomer type of the sample enabling enantiospecific detection of chiral inclusions. Moreover, we demonstrate that Δ F is linearly dependent on both the chiral response of the sample and the electric response of the tip and is inversely related to the quartic power of probe-sample distance. We provide physical insight into the transfer of optical activity from the chiral sample to the achiral tip based on a rigorous analytical approach. We support our theoretical achievements by several numerical examples highlighting the potential application of the derived analytic properties. Lastly, we demonstrate the sensitivity of our method to enantiospecify nanoscale chiral samples with chirality parameter on the order of 0.01 and discuss how the sensitivity of our proposed technique can be further improved.

Exploring movement and energy in human P-glycoprotein conformational rearrangement.

PubMed

Zhang, Yue; Gong, Weikang; Wang, Yan; Liu, Yang; Li, Chunhua

2018-04-24

Human P-glycoprotein (P-gp), a kind of ATP-Binding Cassette transporter, can export a diverse variety of anti-cancer drugs out of the tumor cell. Its overexpression is one of the main reasons for the multidrug resistance (MDR) of tumor cells. It has been confirmed that during the substrate transport process, P-gp experiences a large-scale structural rearrangement from the inward- to outward-facing states. However, the mechanism of how the nucleotide-binding domains (NBDs) control the transmembrane domains (TMDs) to open towards the periplasm in the outward-facing state has not yet been fully characterized. Herein, targeted molecular dynamics simulations were performed to explore the conformational rearrangement of human P-gp. The results show that the allosteric process proceeds in a coupled way, and first the transition is driven by the NBDs, and then transmitted to the cytoplasmic parts of TMDs, finally to the periplasmic parts. The trajectories show that besides the translational motions, the NBDs undergo a rotation movement, which mainly occurs in xy plane and ensures the formation of the correct ATP-binding pockets. The analyses on the interaction energies between the six structure segments (cICLs) from the TMDs and NBDs reveal that their subtle energy differences play an important role in causing the periplasmic parts of the transmembrane helices to separate from each other in the established directions and in appropriate amplitudes. This conclusion can explain the two experimental phenomena about human P-gp in some extent. These studies have provided a detailed exploration into human P-gp rearrangement process and given an energy insight into the TMD reorientation during P-gp transition.

Ceritinib for treatment of ALK-rearranged advanced non-small-cell lung cancer.

PubMed

Vansteenkiste, Johan F

2014-10-01

The anaplastic lymphoma kinase (ALK) gene plays a key role in the pathogenesis of selected tumors, including non-small-cell lung cancer (NSCLC). Patients with ALK-rearranged NSCLC are initially sensitive to the ALK inhibitor crizotinib but eventually become resistant, limiting its therapeutic potential. Ceritinib is an oral second-generation ALK inhibitor with greater preclinical antitumor potency than crizotinib in ALK-positive NSCLC. A Phase I trial of ceritinib in ALK-positive tumors demonstrated good activity in patients with advanced NSCLC, including those who had progressed on crizotinib. Adverse events are similar to those seen with other ALK tyrosine kinase inhibitors and are generally manageable. Ongoing trials are evaluating ceritinib in patients with ALK-rearranged NSCLC treated with prior chemotherapy and/or crizotinib.

Novel photoinduced phase transitions in transition metal oxides and diluted magnetic semiconductors.

PubMed

Mizokawa, Takashi

2012-10-23

Some transition metal oxides have frustrated electronic states under multiphase competition due to strongly correlated d electrons with spin, charge, and orbital degrees of freedom and exhibit drastic responses to external stimuli such as optical excitation. Here, we present photoemission studies on Pr0.55(Ca1 - ySry)0.45MnO3 (y = 0.25), SrTiO3, and Ti1 - xCoxO2 (x = 0.05, 0.10) under laser illumination and discuss electronic structural changes induced by optical excitation in these strongly correlated oxides. We discuss the novel photoinduced phase transitions in these transition metal oxides and diluted magnetic semiconductors on the basis of polaronic pictures such as orbital, ferromagnetic, and ferroelectric polarons.

Chromosome Rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in Two Half Sibs With Features of CdLS and Review of Reported CdLS Cases With Chromosome Rearrangements

PubMed Central

DeScipio, Cheryl; Kaur, Maninder; Yaeger, Dinah; Innis, Jeffrey W.; Spinner, Nancy B.; Jackson, Laird G.; Krantz, Ian D.

2016-01-01

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in NIPBL have been found in ~50% of individuals with CdLS. Numerous chromosomal rearrangements have been reported in individuals with CdLS. These rearrangements may be causative of a CdLS phenotype, result in a phenocopy, or be unrelated to the observed phenotype. We describe two half siblings with a der(3)t(3;12)(p25.3;p13.3) chromosomal rearrangement, clinical features resembling CdLS, and phenotypic overlap with the del(3)(p25) phenotype. Region-specific BAC probes were used to fine-map the breakpoint region by fluorescence in situ hybridization (FISH). FISH analysis places the chromosome 3 breakpoint distal to RP11-115G3 on 3p25.3; the chromosome 12 breakpoint is distal to BAC RP11-88D16 on 12p13.3. A review of published cases of terminal 3p deletions and terminal 12p duplications indicates that the findings in these siblings are consistent with the del(3)(p25) phenotype. Given the phenotypic overlap with CdLS, we have reviewed the reported cases of chromosomal rearrangements involved in CdLS to better elucidate other potential loci that could harbor additional CdLS genes. Additionally, to identify chromosome rearrangements, genome-wide array comparative genomic hybridization (CGH) was performed on eight individuals with typical CdLS and without identifiable deletion or mutation of NIPBL. No pathologic rearrangements were identified. PMID:16075459

R-Spondin chromosome rearrangements drive Wnt-dependent tumour initiation and maintenance in the intestine

PubMed Central

Han, Teng; Schatoff, Emma M.; Murphy, Charles; Zafra, Maria Paz; Wilkinson, John E.; Elemento, Olivier; Dow, Lukas E.

2017-01-01

Defining the genetic drivers of cancer progression is a key in understanding disease biology and developing effective targeted therapies. Chromosome rearrangements are a common feature of human malignancies, but whether they represent bona fide cancer drivers and therapeutically actionable targets, requires functional testing. Here, we describe the generation of transgenic, inducible CRISPR-based mouse systems to engineer and study recurrent colon cancer-associated EIF3E–RSPO2 and PTPRK–RSPO3 chromosome rearrangements in vivo. We show that both Rspo2 and Rspo3 fusion events are sufficient to initiate hyperplasia and tumour development in vivo, without additional cooperating genetic events. Rspo-fusion tumours are entirely Wnt-dependent, as treatment with an inhibitor of Wnt secretion, LGK974, drives rapid tumour clearance from the intestinal mucosa without effects on normal intestinal crypts. Altogether, our study provides direct evidence that endogenous Rspo2 and Rspo3 chromosome rearrangements can initiate and maintain tumour development, and indicate a viable therapeutic window for LGK974 treatment of RSPO-fusion cancers. PMID:28695896

R-Spondin chromosome rearrangements drive Wnt-dependent tumour initiation and maintenance in the intestine.

PubMed

Han, Teng; Schatoff, Emma M; Murphy, Charles; Zafra, Maria Paz; Wilkinson, John E; Elemento, Olivier; Dow, Lukas E

2017-07-11

Defining the genetic drivers of cancer progression is a key in understanding disease biology and developing effective targeted therapies. Chromosome rearrangements are a common feature of human malignancies, but whether they represent bona fide cancer drivers and therapeutically actionable targets, requires functional testing. Here, we describe the generation of transgenic, inducible CRISPR-based mouse systems to engineer and study recurrent colon cancer-associated EIF3E-RSPO2 and PTPRK-RSPO3 chromosome rearrangements in vivo. We show that both Rspo2 and Rspo3 fusion events are sufficient to initiate hyperplasia and tumour development in vivo, without additional cooperating genetic events. Rspo-fusion tumours are entirely Wnt-dependent, as treatment with an inhibitor of Wnt secretion, LGK974, drives rapid tumour clearance from the intestinal mucosa without effects on normal intestinal crypts. Altogether, our study provides direct evidence that endogenous Rspo2 and Rspo3 chromosome rearrangements can initiate and maintain tumour development, and indicate a viable therapeutic window for LGK974 treatment of RSPO-fusion cancers.

Conditional genomic rearrangement by designed meiotic recombination using VDE (PI-SceI) in yeast.

PubMed

Fukuda, Tomoyuki; Ohya, Yoshikazu; Ohta, Kunihiro

2007-10-01

Meiotic recombination plays critical roles in the acquisition of genetic diversity and has been utilized for conventional breeding of livestock and crops. The frequency of meiotic recombination is normally low, and is extremely low in regions called "recombination cold domains". Here, we describe a new and highly efficient method to modulate yeast meiotic gene rearrangements using VDE (PI-SceI), an intein-encoded endonuclease that causes an efficient unidirectional meiotic gene conversion at its recognition sequence (VRS). We designed universal targeting vectors, by use of which the strain that inserts the VRS at a desired site is acquired. Meiotic induction of the strains provided unidirectional gene conversions and frequent genetic rearrangements of flanking genes with little impact on cell viability. This system thus opens the way for the designed modulation of meiotic gene rearrangements, regardless of recombinational activity of chromosomal domains. Finally, the VDE-VRS system enabled us to conduct meiosis-specific conditional knockout of genes where VDE-initiated gene conversion disrupts the target gene during meiosis, serving as a novel approach to examine the functions of genes during germination of resultant spores.

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.

PubMed

Ordulu, Zehra; Wong, Kristen E; Currall, Benjamin B; Ivanov, Andrew R; Pereira, Shahrin; Althari, Sara; Gusella, James F; Talkowski, Michael E; Morton, Cynthia C

2014-05-01

With recent rapid advances in genomic technologies, precise delineation of structural chromosome rearrangements at the nucleotide level is becoming increasingly feasible. In this era of "next-generation cytogenetics" (i.e., an integration of traditional cytogenetic techniques and next-generation sequencing), a consensus nomenclature is essential for accurate communication and data sharing. Currently, nomenclature for describing the sequencing data of these aberrations is lacking. Herein, we present a system called Next-Gen Cytogenetic Nomenclature, which is concordant with the International System for Human Cytogenetic Nomenclature (2013). This system starts with the alignment of rearrangement sequences by BLAT or BLAST (alignment tools) and arrives at a concise and detailed description of chromosomal changes. To facilitate usage and implementation of this nomenclature, we are developing a program designated BLA(S)T Output Sequence Tool of Nomenclature (BOSToN), a demonstrative version of which is accessible online. A standardized characterization of structural chromosomal rearrangements is essential both for research analyses and for application in the clinical setting. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Hydrogen bonding effects on the reorganization energy for photoinduced charge separation reaction between porphyrin and quinone studied by nanosecond laser flash photolysis.

PubMed

Yago, Tomoaki; Gohdo, Masao; Wakasa, Masanobu

2010-02-25

Alcohol concentration dependences of photoinduced charge separation (CS) reaction of zinc tetraphenyl-porphyrin (ZnTPP) and duroquinone (DQ) were investigated in benzonitrile by a nanosecond laser flash photolysis technique. The photoinduced CS reaction was accelerated by the addition of alcohols, whereas the addition of acetonitrile caused little effect on the CS reactions. The simple theory was developed to calculate an increase in reorganization energies induced by the hydrogen bonding interactions between DQ and alcohols using the chemical equilibrium constants for the hydrogen bonding complexes through the concerted pathway and the stepwise one. The experimental results were analyzed by using the Marcus equation where we took into account the hydrogen bonding effects on the reorganization energy and the reaction free energy for the CS reaction. The observed alcohol concentration dependence of the CS reaction rates was well explained by the formation of the hydrogen bonding complexes through the concerted pathway, demonstrating the increase in the reorganization energy by the hydrogen bonding interactions.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wen, Haidan; Sassi, Michel; Luo, Zhenlin

The interaction of light with materials is an intensively studied research forefront, in which the coupling of radiation energy to selective degrees of freedom offers contact-free tuning of functionalities on ultrafast time scales. Capturing the fundamental processes and understanding the mechanism of photoinduced structural rearrangement are essential to applications such as photo-active actuators and efficient photovoltaic devices. Using ultrafast x-ray absorption spectroscopy aided by density functional theory calculations, we reveal the local structural arrangement around the transition metal atom in a unit cell of the photoferroelectric archetype BiFeO 3 film. The out-of-plane elongation of the unit cell is accompanied bymore » the in-plane shrinkage with minimal change of interaxial lattice angles upon photoexcitation. This anisotropic elastic deformation of the unit cell is driven by localized electric field as a result of photoinduced charge separation, in contrast to a global lattice constant increase and lattice angle variations as a result of heating. The finding of a photoinduced elastic unit cell deformation elucidates a microscopic picture of photocarrier-mediated non-equilibrium processes in polar materials.« less

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wen, Haidan; Sassi, Michel JPC; Luo, Zhenlin

The interaction of light with materials is an intensively studied research forefront, in which the coupling of radiation energy to selective degrees of freedom offers contact-free tuning of functionalities on ultrafast time scales. Capturing the fundamental processes and understanding the mechanism of photoinduced structural rearrangement are essential to applications such as photo-active actuators and efficient photovoltaic devices. Using ultrafast x-ray absorption spectroscopy aided by density functional theory calculations, we reveal the local structural arrangement around the transition metal atom in a unit cell of the photoferroelectric archetype BiFeO 3 film. The out-of-plane elongation of the unit cell is accompanied bymore » the in-plane shrinkage with minimal change of interaxial lattice angles upon photoexcitation. This uniaxial elastic deformation of the unit cell is driven by localized electric field as a result of photoinduced charge separation, in contrast to a global lattice constant increase and lattice angle variations as a result of heating. The finding of a photoinduced elastic unit cell deformation elucidates a microscopic picture of photocarrier-mediated nonequilibrium processes in polar materials.« less

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Renieri, A.; Galli, L.; Bruttini, M.

1995-11-20

Mutations in the COL4A5 gene, which encodes the {alpha}5 chain of type IV collagen, are found in a large fraction of patients with X-linked Alport syndrome. The recently discovered COL4A6, tightly linked and highly homologous to COL4A5, represents a second candidate gene for Alport syndrome. We analyzed 177 Italian Alport syndrome families by Southern blotting using cDNA probes from both COL4A5 and COL4A6. Nine unrelated families, accounting for 5% of the cases, were found to have a rearrangement in COL4A5. No rearrangements were found in COL4A6, with the exception of a deletion encompassing the 5{prime} ends of both COL4A5 andmore » COL4A6 genes in a patient with Alport syndrome and leiomyomatosis. COL4A5 rearrangements were all intragenic and included 1 duplication and 7 deletions. Polymerase chain reaction (PCR) analysis was carried out to characterize deletion and duplication boundaries and to predict the resulting protein abnormality. The two smallest deletions involved a single exon (exons 17 and 40, respectively), while the largest ones spanned exons 1 to 36. The clinical phenotype of patients in whom a rearrangement in COL4A5 was detected was severe, with progression to end-stage renal failure in juvenile age and hypoacusis occurring in most cases. These data have some important implications in the diagnosis of patients with Alport syndrome. 34 refs., 3 figs., 1 tab.« less

Prognostic value of bone marrow involvement by clonal immunoglobulin gene rearrangements in follicular lymphoma

PubMed Central

Berget, Ellen; Helgeland, Lars; Liseth, Knut; Løkeland, Turid; Molven, Anders; Vintermyr, Olav Karsten

2014-01-01

Aims We aimed to evaluate the prognostic value of routine use of PCR amplification of immunoglobulin gene rearrangements in bone marrow (BM) staging in patients with follicular lymphoma (FL). Methods Clonal rearrangements were assessed by immunoglobulin heavy and light-chain gene rearrangement analysis in BM aspirates from 96 patients diagnosed with FL and related to morphological detection of BM involvement in biopsies. In 71 patients, results were also compared with concurrent flow cytometry analysis. Results BM involvement was detected by PCR in 34.4% (33/96) of patients. The presence of clonal rearrangements by PCR was associated with advanced clinical stage (I–III vs IV; p<0.001), high FL International Prognostic Index (FLIPI) score (0–1, 2 vs ≥3; p=0.003), and detection of BM involvement by morphology and flow cytometry analysis (p<0.001 for both). PCR-positive patients had a significantly poorer survival than PCR-negative patients (p=0.001, log-rank test). Thirteen patients positive by PCR but without morphologically detectable BM involvement, had significantly poorer survival than patients with negative morphology and negative PCR result (p=0.002). The poor survival associated with BM involvement by PCR was independent of the FLIPI score (p=0.007, Cox regression). BM involvement by morphology or flow cytometry did not show a significant impact on survival. Conclusions Our results showed that routine use of PCR-based clonality analysis significantly improved the prognostic impact of BM staging in patients with FL. BM involvement by PCR was also an independent adverse prognostic factor. PMID:25233852

Design, development, mechanistic elucidation, and rational optimization of a tandem Ireland Claisen/Cope rearrangement reaction for rapid access to the (iso)cyclocitrinol core.

PubMed

Plummer, Christopher W; Wei, Carolyn S; Yozwiak, Carrie E; Soheili, Arash; Smithback, Sara O; Leighton, James L

2014-07-16

An approach to the synthesis of the (iso)cyclocitrinol core structure is described. The key step is a tandem Ireland Claisen/Cope rearrangement sequence, wherein the Ireland Claisen rearrangement effects ring contraction to a strained 10-membered ring, and that strain in turn drives the Cope rearrangement under unusually mild thermal conditions. A major side product was identified as resulting from an unexpected and remarkably facile [1,3]-sigmatropic rearrangement, and a tactic to disfavor the [1,3] pathway and increase the efficiency of the tandem reaction was rationally devised.

Photoinduced phase separation with local structural ordering in organic molecular conductors

NASA Astrophysics Data System (ADS)

Tsuchiya, S.; Nakagawa, K.; Yamada, J.; Taniguchi, H.; Toda, Y.

2017-10-01

In this work, polarized pump-probe spectroscopy was carried out to investigate the effects of a structural ordering of molecules on photoinduced phase separation (PIPS) in the organic conductors κ -(BEDT-TTF ) 2X [X =Cu [N (CN) 2]Br (κ -B r ) and Cu (NCS) 2 (κ -NCS)]. We found that the anisotropic response for the probe polarization appeared at around Tg, where the glasslike structural transition occurs. The anisotropy can be a result of a transient destruction of the local ordering of molecules, indicating a connection between the glasslike transition and PIPS. Moreover, we found that the PIPS response gradually develops with decreasing temperature in κ -Br, whereas it steeply increases in κ -NCS. This qualitative difference suggests that the structural ordering caused by a PIPS is more crucial in κ -NCS than in κ -Br.

The Chirped-Pulse Fourier Transform Microwave Cp-Ftmw Spectrum and Potential Energy Calculations for AN Aromatic Claisen Rearrangement Molecule, Allyl Phenyl Ether

NASA Astrophysics Data System (ADS)

Grubbs, G. S. Grubbs, Ii; Cooke, S. A.; Novick, Stewart E.

2012-06-01

Claisen rearrangement ethers are a fundamental organic, pericyclic rearrangement reaction reagent. In the mechanism of a Claisen rearrangement, a vinyl allyl ether is needed to provide the necessary Lewis acid/base sites on the molecule for the rearrangement and are simply heated. This rearrangement was first discovered by heating up the title molecule, allyl phenyl ether. However, much like the Diels-Alder, Cope, and other pericyclic reactions, conformation and coordination of chemical groups is key to the Claisen mechanism. In this study, the authors present some structural characteristics of allyl phenyl ether from an analysis of the microwave spectra in the 8-14 GHz region using a CP-FTMW spectrometer. This is, to the authors knowledge, the first known microwave region study of the title molecule. Three conformers have been observed and assigned to date and will be discussed. Along with the rotational spectra, geometry calculations and potential energy surfaces performed at the MP2/6-311G++(3d,2p) level will be discussed and compared to the experimental results. Modeling the Claisen aromatic rearrangement mechanism using CP-FTMW spectroscopy will also be discussed. L. Claisen Chemische Berichte 45, 3157, October 1912.

T-cell acute lymphoblastic leukemia associated with complex karyotype and SET-NUP214 rearrangement: a case study and review of the literature.

PubMed

Lee, Sang-Guk; Park, Tae Sung; Cho, Sun Young; Lim, Gayoung; Park, Gwang Jin; Oh, Seung Hwan; Cho, Eun Hae; Chong, So Young; Huh, Ji Young

2011-01-01

SET-NUP214 rearrangements have been rarely reported in T-cell acute lymphoblastic leukemia (T-ALL), acute undifferentiated leukemia, and acute myeloid leukemia, and most documented cases have been associated with normal karyotypes in conventional cytogenetic analyses. Here, we describe a novel case of T-ALL associated with a mediastinal mass and a SET-NUP214 rearrangement, which was masked by a complex karyotype at the time of initial diagnosis. Using multiplex reverse transcriptase-polymerase chain reaction analysis, we detected a cryptic SET-NUP214 rearrangement in our patient. As only 11 cases (including the present study) of T-ALL with SET-NUP214 rearrangement have been reported, the clinical features and treatment outcomes have not been fully determined. Further studies are necessary to evaluate the incidence of SET-NUP214 rearrangement in T-ALL patients and the treatment responses as well as prognosis of these patients.

Prenatally diagnosed de novo apparently balanced complex chromosome rearrangements: Two new cases and review of the literature

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ruiz, C.; Grubs, R.E.; Jewett, T.

Complex chromosome rearrangements (CCR) are rare structural rearrangements. Currently six cases of prenatally diagnosed balanced de novo CCR have been described. We present two new cases of prenatally ascertained balanced de novo CCR. In the first case, an amniocentesis revealed a balanced de novo three-way CCR involving chromosomes 5,6, and 11 with a pericentric inversion of chromosome 5 [four breaks]. In the second case a balanced de novo rearrangement was identified by amniocentesis which involved a reciprocal translocation between chromosomes 3 and 8 and a CCR involving chromosomes 6,7, and 18 [six breaks]. The use of whole chromosome painting helpedmore » elucidate the nature of these rearrangements. A review of the postnatally ascertained cases suggests that most patients have congenital anomalies, minor anomalies, and/or developmental delay/mental retardation. In addition, there appears to be a relationship between the number of chromosome breaks and the extent of phenotypic effects. The paucity of information regarding prenatally diagnosed CCR and the bias of ascertainment of postnatal CCR cases poses a problem in counseling families. 38 refs., 3 figs., 4 tabs.« less