bluuebunny/crossref_metadata_2025 huggingface dataset:
Genome-wide identification of significant aberrations in cancer genome
Authors: Yuan Xiguo , Yu Guoqiang , Hou Xuchu , Shih Ie-Ming , Clarke Robert , Zhang Junying , Hoffman Eric P , Wang Roger R , Zhang Zhen , Wang Yue
Published: July 2012

Background

Somatic Copy Number Alterations (CNAs) in human genomes are present in almost all human cancers. Systematic efforts to characterize such structural variants must effectively distinguish significant consensus events from random background aberrations. Here we introduce Significant Aberration in Cancer (SAIC), a new method for characterizing and assessing the statistical significance of recurrent CNA units. Three main features of SAIC include: (1) exploiting the intrinsic correlation among consecutive probes to assign a score to each CNA unit instead of single probes; (2) performing permutations on CNA units that preserve correlations inherent in the copy number data; and (3) iteratively detecting Significant Copy Number Aberrations (SCAs) and estimating an unbiased null distribution by applying an SCA-exclusive permutation scheme.

Results

We test and compare the performance of SAIC against four peer methods (GISTIC, STAC, KC-SMART, CMDS) on a large number of simulation datasets. Experimental results show that SAIC outperforms peer methods in terms of larger area under the Receiver Operating Characteristics curve and increased detection power. We then apply SAIC to analyze structural genomic aberrations acquired in four real cancer genome-wide copy number data sets (ovarian cancer, metastatic prostate cancer, lung adenocarcinoma, glioblastoma). When compared with previously reported results, SAIC successfully identifies most SCAs known to be of biological significance and associated with oncogenes (e.g., KRAS, CCNE1, and MYC) or tumor suppressor genes (e.g., CDKN2A/B). Furthermore, SAIC identifies a number of novel SCAs in these copy number data that encompass tumor related genes and may warrant further studies.

Conclusions

Supported by a well-grounded theoretical framework, SAIC has been developed and used to identify SCAs in various cancer copy number data sets, providing useful information to study the landscape of cancer genomes. Open–source and platform-independent SAIC software is implemented using C++, together with R scripts for data formatting and Perl scripts for user interfacing, and it is easy to install and efficient to use. The source code and documentation are freely available at http://www.cbil.ece.vt.edu/software.htm.
Quantification of echodensities in tuberculous pericardial effusion using fractal geometry: a proof of concept study
Authors: Ntsekhe Mpiko , Mayosi Bongani M , Gumbo Tawanda
Published: July 2012

Background

The purpose of this study was to quantify the heterogeneous distribution of echodensities in the pericardial fluid of patients with tuberculous pericarditis using echocardiography and fractal analysis, and to determine whether there were differences in the fractal dimensions of effusive-constrictive and effusive non-constrictive disease.

Methods

We used fractal geometry to quantify the echocardiographic densities in patients who were enrolled in the
I
nvestigation of the
M
anagement of
P
ericarditis
i
n
Africa
(IMPI Africa) Registry. Sub-costal and four chamber images were included in the analysis if a minimum of two clearly identified fibrin strands were present and the quality of the images were of a standard which allowed for accurate measurement of the fractal dimension. The fractal dimension was calculated as follows: Df = limlog N(s)/[log (l/s)], where Df is the box counting fractal dimension of the fibrin strand, s is the side length of the box and N(s) is the smallest number of boxes of side length s to cover the outline of the object being measured. We compared the fractal dimension of echocardiographic findings in patients with effusive constrictive pericarditis to effusive non-constrictive pericardial effusion using the non-parametric Mann–Whitney test.

Results

Of the 14 echocardiographs from 14 participants that were selected for the study, 42.8% (6/14) of images were subcostal views while 57.1% (8/14) were 4-chamber views. Eight of the patients had tuberculous effusive constrictive pericarditis while 6 had tuberculous effusive non-constrictive pericarditis. The mean fractal dimension Df was 1.325 with a standard deviation (SD) of 0.146. The measured fibrin strand dimension exceeded the topological dimension in all the images over the entire range of grid scales with a correlation coefficient (r2) greater than 0.8 in the majority. The fractal dimension of echodensities was 1.359 ± 0.199 in effusive constrictive pericarditis compared to 1.330 ± 0.166 in effusive non-constrictive pericarditis (p = 0.595).

Conclusions

The echocardiographic densities in tuberculous pericardial effusion have a fractal geometrical dimension which is similar in pure effusive and effusive constrictive disease.
Novel Solid-state Photochromic Reaction of Azobenzene Derivative Controlled by Appended Photoreactive Group
Authors: Sekine Akiko , Yamagiwa Hiroki , Uekusa Hidehiro
Published: July 2012

Photochromic solid-state trans–cis isomerization of the 4-aminoazobenzene moiety was observed for the first time in (trans-4-aminoazobenzene)(β-cyanoethyl)bis(dimethylglyoximato)cobalt(III) after β–α isomerization of the β-cyanoethyl group on exposure to UV light. The UV spectra revealed that β–α isomerization occurred first, followed by the trans–cis transformation. When the crystal was exposed to visible light, only the β–α isomerization of the cyanoethyl group occurred, with retention of the single-crystal form. The crystal structure before and after the β–α photoisomerization showed that the isomerization is important in this photochromic trans–cis transformation.
A case of oral ulceration and disseminated histoplasmosis in HIV infection
Authors: Sharma D , Mckendry A , Nageshwaran S , Cartledge J
Published: July 2012

A 51-year-old Malawian woman presented with persistent mouth ulceration and an eight-month history of non-specific respiratory symptoms. Histoplasma capsulatum was diagnosed on gum, gastric and lymph node biopsies. Identification of H. capsulatum prompted HIV testing and the patient tested positive with a CD4 count of 40 cells/mm3. The diagnosis of histoplasmosis was delayed due to its unusual presentation.
Cushing's syndrome with adrenal suppression induced by inhaled budesonide due to a ritonavir drug interaction in a woman with HIV infection
Authors: Yoganathan K , David L , Williams C , Jones K
Published: July 2012

A 48-year-old woman with HIV infection developed Cushingoid features while she was taking ritonavir-boosted darunavir. Cushing's syndrome was confirmed due to the drug interaction between ritonavir and budesonide. Diagnosis of iatrogenic Cushing's syndrome in HIV-positive patients who are on ritonavir-boosted protease inhibitors (PIs) presents a clinical challenge due to similar clinical features of lipohypertrophy related to ritonavir-boosted PIs. Although this complication has been widely described with the use of inhaled fluticasone, the interaction with inhaled budesonide at therapeutic dose is not widely recognized.
Use of the mobile phone multimedia messaging service for teledermatology
Authors: Börve Alexander , Holst Anna , Gente-Lidholm Anette , Molina-Martinez Raquel , Paoli John
Published: July 2012

We examined the feasibility of using mobile phone Multimedia Messaging Service (MMS) to send teledermatology referrals from a general practitioner to a dermatologist. Digital photographs of skin conditions in 40 consecutive patients were sent together with relevant clinical information to dermatologists at a university hospital. Two dermatologists separately assessed the MMS referrals. The suspected diagnosis, triage and management decisions were compared to those given after separate face-to-face (FTF) visits, and again after agreeing on a final clinical and/or histopathological diagnosis. Thirty-two patients (80%) were diagnosed with skin tumours and 8 patients (20%) with other skin conditions. Both dermatologists were able to make a correct diagnosis in 31 patients (78%) based solely on the MMS referral. They also provided adequate management recommendations for 98% of the patients. Adequate triage decisions after assessment of the MMS referrals were made for 34 (85%) and 38 (95%) patients by the two dermatologists. There was an inter-observer concordance of 68% for the teledermatology diagnosis, compared to 88% concordance after the separate FTF visits. The diagnostic accuracy and adequacy of the triage and management decisions achieved using MMS referrals were similar to those obtained with other store-and-forward teledermatology methods.
The effect of ICU telemedicine on mortality and length of stay
Authors: Kohl Benjamin A , Fortino-Mullen Margaret , Praestgaard Amy , Hanson C William , DiMartino Joseph , Ochroch E Andrew
Published: July 2012

We conducted a retrospective, observational study of patient outcomes in two intensive care units in the same hospital. The surgical ICU (SICU) implemented telemedicine and electronic medical records, while the medical ICU (MICU) did not. Medical charts were reviewed for a one-year period before telemedicine and a one-year period afterwards. In the SICU, records were obtained for 246 patients before and 1499 patients after implementation; in the MICU, records were obtained for 220 patients and 285 patients in the same periods. The outcomes of interest were ICU length of stay and mortality, and hospital length of stay and mortality. Outcome variables were severity-adjusted using APACHE scoring. A bootstrap method, with 1000 replicates, was used to assess stability of the findings. The adjusted ICU length of stay, ICU mortality, and hospital mortality for the SICU patients all decreased significantly after the implementation of telemedicine. There was no change in adjusted outcome variables in the MICU patients. Implementation of telemedicine and electronic records in the surgical ICU was associated with a profound reduction in severity-adjusted ICU length of stay, ICU mortality, and hospital mortality. However, it is not possible to conclude definitively that the observed associations seen in the SICU were due to the intervention.
Reconstructing the Critically Damaged Health Service System of the Country
Authors: Banerji Debabar
Published: July 2012

India's ruling class, in association with international agencies, bureaucrats, and business interests, has formed a powerful syndicate that has been imposing its will on the country to the detriment of public health. After gaining independence, India developed a body of knowledge suited to its social, cultural, economic, and epidemiological conditions. This led to an alternative approach to public health education, practice, and research that foreshadowed the Alma Ata Declaration on Primary Health Care of 1978. In the early 1980s, global power shifts undermined national and international commitment to the Declaration. Wealthy countries' response to the declaration of self-reliance by economically disadvantaged countries was swift: an effort to suppress the Declaration's ideals in favor of an unscientific, market-driven agenda. As a result, public health practice in India virtually disappeared. Responding to growing restiveness among a population in need, political leaders have launched the foredoomed National Rural Health Mission and pursued an American brand of public health through the Public Health Foundation of India. Reconstructing the damaged public health system will require pressure on the syndicate to ensure India's public health heritage will be used to effectively transfer “People's health in people's hands” according to the guidelines set down at Alma Ata.
Novel pathological abnormalities of deep brain structures including dysplastic neurons in anterior striatum associated with focal cortical dysplasia in epilepsy
Authors: Kaido Takanobu , Otsuki Taisuke , Kakita Akiyoshi , Sugai Kenji , Saito Yoshiaki , Sakakibara Takafumi , Takahashi Akio , Kaneko Yuu , Saito Yuko , Takahashi Hitoshi , Honda Ryoko , Nakagawa Eiji , Sasaki Masayuki , Itoh Masayuki
Published: July 2012

Object

Some patients are not seizure free even after epileptogenic cortical resection. The authors recently described a case of frontal lobe epilepsy cured after the resection of periventricular white matter and striatum, in which dysplastic neurons were revealed. The authors attempted to confirm similar cases.

Methods

They reviewed the records of 8 children with frontal lobe epilepsy who had daily (7) or monthly (1) seizures and underwent resections including deep brain structures.

Results

Five patients underwent multiple resections. Neuroimaging of the deep structures showed the transmantle sign in 3 patients, ictal hyperperfusion in 6, reduced iomazenil uptake in 2, and spike dipole clustering in 6. All patients became seizure free postoperatively. Focal cortical dysplasia of various types was diagnosed in all patients. Dysmorphic neurons were found in the cortex and subcortical white matter of 5 patients. The striatum was verified in 3 patients in whom dysmorphic neurons were scattered. In the periventricular white matter, prominent astrocytosis was evident in all cases.

Conclusions

Pathological abnormalities such as dysmorphic neurons and astrocytosis in deep brain structures would play a key role in epileptogenesis.
Magnetic and Electric Properties of Organic Conductors Probed by 13C-NMR Using Selective-Site Substituted Molecules
Authors: Hirose Shinji , Misawa Masaki , Kawamoto Atsushi
Published: July 2012

Quasi-One and quasi-two dimensional organic conductors consisting of TTF derivatives such as BEDT-TTF (bis-(ethylene-dithio)-tetra-thia-fulvalene) and TMTCF (C = S; TMTTF: tetra-methyl-tetra-thia-fulvalene, C = Se; TMTSF: tetra-methyl-tetra-selena-fulvalene) have been well investigated in condensed matter physics because of interest in the emerging electric and magnetic properties, such as the spin density wave, charge order, superconductivity, anti-ferromagnetism, and so on. To probe the electronic state, nuclear magnetic resonance (NMR) is one of the most powerful tools as the microscopic magnetometer. A number of 13C-NMR studies have been performed of the double-site central 13C=13C bond substituted molecules. However, problems with the coupled spin system of 13C=13C complicated the interpretation for observations on NMR. Therefore, single-site 13C-enriched molecules are desired. We summarize the problem of Pake doublet and the preparation of the single-site 13C-susbstituted BEDT-TTF and TMTCF molecules. We also demonstrate the superiority of 13C-NMR of the single-site 13C-susbstituted molecule utilizing the hyperfine coupling tensor.
Crystal and Molecular Structures of Two 2-Aminothiophene Derivatives
Authors: Kubicki Maciej , Dutkiewicz Grzegorz , Yathirajan Hemmige S. , Dawar Pankaj , Ramesha Andagar R. , Dayananda Alaloor S.
Published: July 2012

The crystal and molecular structures of two 2-aminothiophene derivatives, potential allosteric enhancers at the human A1 adenosine receptor, are reported. (2-Amino-4,5,6,7-tetrahydro-1-benzothiophen-3-yl)(phenyl)methanone (1) crystallizes in the orthorhombic space group Pna21 (a = 9.2080(4) Å, b = 14.0485(7) Å, c = 10.3826(6) Å), and (2-amino-5-ethylthiophen-3-yl)(2-chlorophenyl)methanone (2) crystalizes in the monoclinic P21/c space group with unit cell parameters a = 10.6092(8) Å, b = 10.8355(8) Å, c = 11.1346(9) Å, β = 98.643(6)Å. In both molecules the intramolecular N–H···O=C hydrogen bonds close six-membered planar rings and significantly influence the molecular conformation. Intermolecular N–H···O bonds connect the molecules in infinite chains along a in case of 1, and along b in 2; in each case the appropriate unit cell axis is approximately 10 Å long.
The karst ecology of the Bakwena Cave (Gauteng)
Authors: Durand François , Swart Antoinette , Marais Werner , Jansen van Rensburg Candice , Habig Johan , Dippenaar-Schoeman Ansie , Ueckermann Eddie , Jacobs Riana , De Wet Louis , Tiedt Louwrens , Venter Eduard
Published: July 2012

The Bakwena Cave houses a variety of organisms that form an intricate and interdependent food web. This cave is utilised as a permanent roost by a colony of Natal clinging bats. The bat guano and allochthonous plant material that fall into the cave from outside, form the basis of the ecology inside the cave which may be considered a typical example of a detritus ecosystem. Decomposers such as bacteria and fungi are responsible for the decay of the guano and plant detritus which, in turn, are utilised by several organisms, including nematodes and mites, as food source. These animals form the next trophic level which is utilised by predatory arthropods as food source. The Bakwena Cave is one of the few dolomitic caves in South Africa that provide access to the water table. The groundwater houses several types of organisms, including bacteria, fungi and animals – primarily nematodes and crustaceans. The Bakwena Cave is also the type locality for freshwater amphipods in Southern Africa. This unique and sensitive ecosystem is primarily dependent on bat guano. The grassland surrounding the cave is utilised by the bats as foraging area and is currently threatened by urban development and the resulting habitat fragmentation and destruction. A cascade of extinctions of the cave-dwelling organisms will follow if the bats abandon the cave.
Centro de Estudos do Genoma Humano:
Authors: Splendore Alessandra , Rocha Kátia Maria da , Takahashi Vanessa Naomi Van Opstal , Bueno Maria Rita Passos , Zatz Mayana
Published: July 2012

Objetivo. A síndrome de Rett (RTT), causada por mutações no gene MECP2, é uma encefalopatia grave e a segunda causa mais frequente de retardo mental em meninas. O objetivo deste trabalho é avaliar a experiência do Centro de Estudos do Genoma Humano (CEGH) em seis anos de diagnóstico molecular da RTT. Método. Levantamento retrospectivo dos prontuários dos pacientes atendidos no CEGH com suspeita clínica de RTT entre 2005 e 2010. Resultados. Dois méto­dos de análise foram empregados: sequenciamento direto dos exons 3 e 4 do gene MECP2 ou triagem de mutações nos exons 2, 3 e 4 seguida de sequenciamento das amostras que tivessem alguma alteração detec­tada na triagem. Dos 139 probandos testados, encontramos a mutação patogênica em 59 (42,4%). Dessas, oito nunca haviam sido descritas. Ambos os métodos foram igualmente eficazes. Conclusões. Dada a variabilidade clínica de RTT, nossa taxa de detecção é compatível com a literatura para uma amostra contendo casos típicos e atípicos e para o método empregado. Concluímos que o sequenciamento direto é um método eficaz e que traz a vantagem adicional de ser capaz de detectar mutações novas. Para melhorar nossa taxa de detecção, passaremos a oferecer também o teste para grandes deleções em MECP2.
Arctic Clouds and Surface Radiation – a critical comparison of satellite retrievals and the ERA-Interim reanalysis
Authors: Zygmuntowska M. , Mauritsen T. , Quaas J. , Kaleschke L.
Published: July 2012

Abstract. Clouds regulate the Earth's radiation budget, both by reflecting part of the incoming sunlight leading to cooling and by absorbing and emitting infrared radiation which tends to have a warming effect. Globally averaged, at the top of the atmosphere the cloud radiative effect is to cool the climate, while at the Arctic surface, clouds are thought to be warming. Here we compare a passive instrument, the AVHRR-based retrieval from CM-SAF, with recently launched active instruments onboard CloudSat and CALIPSO and the widely used ERA-Interim reanalysis. We find that in particular in winter months the three data sets differ significantly. While passive satellite instruments have serious difficulties, detecting only half the cloudiness of the modeled clouds in the reanalysis, the active instruments are in between. In summer, the two satellite products agree having monthly means of 70–80 percent, but the reanalysis are approximately ten percent higher. The monthly mean long- and shortwave components of the surface cloud radiative effect obtained from the ERA-Interim reanalysis are about twice that calculated on the basis of CloudSat's radar-only retrievals, while ground based measurements from SHEBA are in between. We discuss these differences in terms of instrument-, retrieval- and reanalysis characteristics, which differ substantially between the analyzed datasets.
Influence of terrestrial inputs on continental shelf carbon dioxide
Authors: Jiang L.-Q. , Cai W.-J. , Wang Y. , Bauer J. E.
Published: July 2012

Abstract. Air-sea carbon dioxide (CO2) fluxes have recently been reported for the US South Atlantic Bight (SAB), a low-latitude shallow continental shelf bordered landward by abundant salt marshes and rivers. In this study, influences of terrestrial inputs on sea surface partial pressure of CO2 (pCO2) in the SAB are quantified. After removing pCO2 variations due to the annual temperature cycle and air-sea gas exchange from the in situ pCO2, temperature and gas exchange corrected (TG-corrected) pCO2 is derived. Contributions from the river, marsh, and continental shelf to the TG-corrected pCO2 are then calculated. Findings show that CO2 contributions from the river [ΔpCO2(river)] are highest close to the coast and decrease with distance offshore. For example, ΔpCO2(river) was up to 30 μatm on the inner shelf but averaged only 0–3 μatm on the outer shelf during January and March 2005. CO2 contributions from salt marshes [ΔpCO2(marsh)] show similar spatial and seasonal distributions as ΔpCO2(river), with the magnitude of ΔpCO2(marsh) being about three times as high as that of ΔpCO2(river). CO2 contributions from within the shelf [ΔpCO2(shelf)] are highest among the three components. Compared to ΔpCO2(river) and ΔpCO2(marsh), ΔpCO2(shelf) show the smallest onshore-offshore gradients. Despite large uncertainties, this study clearly demonstrates the importance of terrestrial impacts on coastal ocean CO2distribution.
Isotope data improve the predictive capabilities of a marine biogeochemical model
Authors: Van Engeland T. , De Kluijver A. , Soetaert K. , Meysman F. J. R. , Middelburg J. J.
Published: July 2012

Abstract. Mesocosm experiments combined with biogeochemical modeling provide a powerful research tool to better understand marine ecosystem processes. Using an extended Nutrient-Phytoplankton-Zooplankton-Detritus (NPZD) model, we investigated the added value of stable isotope tracer additions to constrain biogeochemical transformations within a mesocosm experiment that was designed to study ocean acidification effects on the marine ecosystem. Markov-Chain Monte-Carlo simulations revealed that even when isotope data were available for the majority of the components, not all parameters in the model could be constrained by calibration. However, when isotope tracer data were deliberately excluded from the calibration, the overparameterisation was even stronger. More specifically, it led to unconstrained fluxes through the zooplankton and detritus compartment, and different relative contributions of these two compartments to phytoplankton biomass loss produced equally plausible results. It is concluded that model uncertainty due to overparameterisation can be considerably reduced by explicitly resolving stable isotope dynamics. Therefore, this mesocosm experiment has benefitted substantially from isotope tracer additions to unravel carbon cycling under varying CO2 regimes.
Seasonal stratification and property distributions in a tropical estuary (Cochin estuary, west coast, India)
Authors: Shivaprasad A. , Vinita J. , Revichandran C. , Reny P. D. , Deepak M. P. , Muraleedharan K. R. , Naveen Kumar K. R.
Published: July 2012

Abstract. The intratidal, spring-neap and seasonal variations in stratification were examined in Cochin estuary. The observations established a strong connection with the distribution of chemical and biological properties. The influence of tides and river discharge forcing in water column stability was quantified using potential energy anomaly (PEA) and stratification parameter. Partially mixed (neap) and well-mixed (spring) conditions during low river discharge (dry) period were altered in monsoon by the salt wedge intrusions. The ecological impact of salt wedge propagation on high tides bringing upwelled water to the system was evident from the bottom hypoxic, high chlorophyll a and nutrient-rich conditions. Phosphate and nitrite concentrations were higher at the bottom saline conditions but silicate and nitrate were clearly supplied by river water. However, during ebb tide this front was driven out of the estuary. The periodic advance and retreat of the salt wedge was inevitable in making the system immune from extended hypoxia/anoxia and maintaining the health of Cochin estuary. For the seasonally varying river flow in the estuary, salt intrusion receded with increasing river flow in monsoon and rebounded with decreasing river flow in dry season. During monsoon, the intense flushing and reduction in salinity field expansion seemed to be responsible for the limited chlorophyll a levels along the surface of Cochin estuary.
Workdays lost due to occupational injuries among young workers in Brazil
Authors: Santana Vilma S. , Villaveces Andrés , Bangdiwala Shrikant I. , Runyan Carol W. , Albuquerque‐Oliveira Paulo Rogério
Published: July 2012

Background

The severity of non‐fatal work‐related injuries has seldom been examined among young workers. We estimated the extent and distribution of workdays lost due to non‐fatal work injuries using compensation data.

Methods

Data are from the Brazilian Institute of Social Insurance, for 2006. The study population is comprised of all insured workers of age 16–24. Descriptive statistics reflect workdays lost due to health‐related disability, according to sex, age group, wage, and trade.

Results

Out of 4.8 million insured workers ages 16–24 years, we estimated 1,282,940 workdays lost. We observed a larger number of median workdays lost among males age 20–24 in retail and service trades (83 days) and among 16–19‐year‐old females in the agriculture/fish/forestry/cattle (142 days).

Conclusions

Young workers experience a heavy burden of work‐related injuries. Disability workdays may compromise school attendance and performance. Other potential impacts affect productivity and social insurance costs. Am. J. Ind. Med. 55:917–925, 2012. © 2012 Wiley Periodicals, Inc.
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature
Authors: Karbach Julia , Coerdt Wiltrud , Wagner Wilfried , Bartsch Oliver
Published: July 2012

Noonan syndrome with multiple giant cell lesions (NS/MGCL) was recently shown to be a phenotypic variation within the syndromes of the Ras/MAPK pathway and not an independent entity as previously thought. Here we report on a 13‐year‐old boy with a typical phenotype of NS including atrial septal defect, pulmonic stenosis, short stature, and combined pectus carinatum/excavatum, pronounced MGCL of both jaws, and a de novo mutation in PTPN11, c.236A>G (which predicts p.Q79R). Mutations in PTPN11 are the most frequent cause of NS and p.Q79R is a recurrent mutation in exon 3. Including this patient, 24 patients with molecularly confirmed NS, LEOPARD, or CFC/MGCL syndrome have been reported to date, of these 21 patients have PTPN11, SOS1, or RAF1 mutations and three have BRAF or MAP2K1 mutations, confirming that MGCL is a rare complication of the deregulated RAS/MAPK pathway. In all patients, the lesions of the mandible and to a lesser extent of the maxilla were first noted between ages 2 and 19 years (median 11 years), and were combined with enlargement of the jaws in 11/24 patients (46%). In this case and, with one exception (mutation not reported), all previous cases the NS/MGCL was caused by known mutations in the PTPN11, SOS1, RAF1, BRAF1, and MAP2K1 genes that were previously reported with RASopathies without MGCL. © 2012 Wiley Periodicals, Inc.
Additivity Rule of the Partial Molal Volume. 1. Its Validity for a Series of Normal Alkane Liquids
Authors: Yoshimura Y. , Osugi J. , Nakahara M.
Published: July 2012

A critical test of the additivity rule of the partial molal or molal volume (Ṽ) at constant temperature and pressure, expressed by Ṽ = αn + β where n is the carbon number, has been made for a wide range of n‐alkanes at a variety of temperatures and pressures. In the pure liquid state the additivity rule is obeyed approximately well by the higher n‐alkanes but broken by the lower ones having the boiling point close to the temperature of interest, and in solution at infinite dilution it is obeyed much more accurately by both high and low n‐alkanes. These facts indicate that the additivity rule holds more accurately for the configurational partial molal volume than for the partial molal volume itself. The virial theorem for classical fluids is applied here to separate the overall partial molal volume into the translational and configurational components; the translational contribution is proved to be the isothermal compressibility multiplied by the gas constant and temperature. The parameter a decreases slightly and linearly and the parameter β decreases significantly and nonlinearly as temperature is lowered or pressure is increased.
Current‐Voltage Relationship for a Neutral Membrane
Authors: Seshadri M. S.
Published: July 2012

Membrane The legitimacy of the electroneutrality assumption is examined by means of a perturbative approach originally due to MacGillivray. This approach envisages division of the membrane into three regions, a core region and two boundary layers. The Nernst‐Planck‐Poisson equations are solved in each of the three regions and the solutions matched by employing an asymptotic matching principle. This procedure is worked out in detail for a neutral membrane permeable to two ionic species of opposite valencies. A current‐voltage relationship is derived. The question of the core electroneutrality is discussed at length.
Untersuchungen über die Trägheitskräfte der beweglichen Ionen in festen Ionenleitern. α‐AgI als Modellsubstanz
Authors: Betsch M. , Rickert H. , Wagner R.
Published: July 2012

Rods of silver iodide with silver electrodes at both ends were decelerated by letting them drop from different heights at a temperature of 170°C to a plastic material on the ground. In the moment of striking the ground the forces of inertia of the mobile silver ions caused voltage pulses, which were proportional to the velocity before striking and to the length of the silver iodide rods and which could be calculated using the mass and electrical charge of the silver ions. Calculated and measured voltage pulses were in agreement within the accuracy of measurement of 1%.
Thermodynamic Relations Between Component Activities and Gas Solubilities in Binary Metallic Systems
Authors: Frohberg Martin G. , Anik Sabri
Published: July 2012

The relationship between the component activities and gas solubilities of binary metallic melts was derived from the ternary Gibbs‐Duhem equation. The thermodynamic behaviour of the alloys was interpreted by means of atomic interactions. Excess free energies in the liquid range for the systems Al‐Co, Al‐Ni, Co‐Ge, Co‐Si, Fe‐Ge, Ge‐Ni and Ni‐Si were calculated at 1600 °C from their known hydrogen solubilities.
Selection and Coexistence in a Bioreactor
Authors: Buchholtz F. , Schneider F. W.
Published: July 2012

The bioreactor (continuous flow stirred tank reactor) has become an ubiquitous experimental device that also allows the study of selection, bistability or coexistence of competing species in the laboratory. The steady state solutions (and relaxation times of two mechanisms) of a number of simple mechanisms are calculated that contain two competing autocatalytic steps followed by a third step. For simplicity the third step is chosen to be either a first order conversion between the rival species (mechanism II), an additional autocatalytic conversion (mechanism III), or an annihilation step between the two species (mechanism IV). Selection may be displayed by all mechanisms studied, coexistence only by mechanisms II and III, whereas IV shows bistability where either one of two steady states are reached depending upon initial concentrations. A number of relevant biological systems are described and qualitatively compared with theory.
The Dynamics of Atom Recombination and Dissociation
Authors: Sceats Mark G. , Dawes Judith M. , Mark Rodger P. , Millar David P.
Published: July 2012

There are complex mechanisms which underlie the apparently simple processes of molecular dissociation and radical recombination in dense fluids. In this paper we consider aspects such as the role of metastable deep electronic traps and electronic surface hopping. The result is an analytic model which predicts trap lifetimes and bimolecular recombination rates of iodine over a range of fluid densities from low density gas phase to liquids under high pressure. The inputs into the model are simply the potential surfaces and the friction which governs the motion of an isolated atom in the fluid.
CO2 Laser‐Induced Photodesorption of Physisorbed Ammonia from Cu(100) Single Crystal
Authors: Hussla Ingo , Chuang T. J.
Published: July 2012

Infrared laser‐induced photodesorption of physisorbed NH3 from Cu(100) single crystal is achieved via resonant pulsed CO2 laser excitation of the symmetric deformation mode δ3 and‐detected by time‐of‐flight mass spectrometry. Photofragmentation and photoionization at increased laser intensities are also observed.
Experimental Studies of Population Distributions Produced by Infrared Multiphoton Absorption
Authors: Brown Trevor C. , King Keith D. , Zellweger Jean‐Michel , Barker John R.
Published: July 2012

Populations of vibrationally excited 1,1,2‐trifluoroethane molecules have been prepared using a CO2 laser. The characteristics of the populations are being investigated through the use of three experimental techniques: collision‐free multiphoton dissociation, optoacoustic measurements of absorbed laser energy, and infrared fluorescence from the excited molecules. A single Master Equation is used to simulate all three experiments and infer the population distributions formed by multiphoton absorption. From this treatment, information will be obtained on collisional energy transfer and on the effects of vibrational energy on bimolecular reactions.
Surface Tension Driven Convection in Chemical and Biochemical Solution Layers
Authors: Müller Stefan C. , Plesser Theo , Hess Benno
Published: July 2012

The formation of regular spatial patterns due to hydrodynamic flow is observed in thin layers of solutions containing protein, cytoplasma, or other biochemical or chemical compounds including the Belousov‐Zhabotinsky reaction mixture. Optical transmission and dark‐field methods are combined with digital video techniques for quantitative recording of two‐dimensional intensity distributions. The theoretical basis for the role of gradients in surface tension as the driving force for the onset of convection in layers with a liquid/gas interface is outlined. Critical thresholds in chemical composition for pattern occurrence are determined experimentally.
1H NMR Studies on the Motion of Guanidinium Ions and Dipolar‐Quadrupolar Cross Relaxations in Crystalline Guanidinium Tetrachloro‐ and Tetrabromometallates Including Au(III), Pt(II), or Pd(II) as Central Metal Ions
Authors: Furukawa Yoshihiro , Gima Shin‐Ei , Nakamura Daiyu
Published: July 2012

The temperature dependences of proton spin‐lattice relaxation times T1 at various Larmor frequencies and of 1H NMR second moments at 40 MHz were determined for (guH)AuCl4, (guH)AuBr4, (guH)2PtCl4, (guH)2PtBr4, (guH)2PdCl4, and (guH)2PdBr4, where guH indicates a guanidinium cation [C(NH2)3]+. A solid‐solid phase transition between stable phases was located for (guH)AuCl4, (guH)AuBr4, and (guH)2PtBr4 at 363, 387, and 359 K, respectively. The high‐temperature phases of the three complexes were easily supercooled. For (guH)AuBr4, another phase transition between substable phases was found at 218 K. From the measurements of 1H T1, the motional parameters for the C3 reorientation of the D3h cation in the all complexes studied were evaluated. Below room temperature, (guH)2PtCl4 and (guH)2PdCl4 yielded unusual temperature dependences of 1H T1 unexplainable by the usual BPP theory. Moreover, the 1H T1 values in this temperature region depended strongly and in an anomalous manner on the 1H Larmor frequency employed. These unusual temperature and frequency dependences of 1H T1 can be explained as that the 1H T1 values are drastically affected by the temperature‐variable quadrupolar relaxation of chlorine nuclei in the complex anions through dipolar‐quadrupolar cross relaxation between 1H and chlorine nuclei. The frequency dependence of 1H T1 of (guH)2PtCl4 and (guH)2PdCl4 determined at various temperatures was analyzed by the Kimmich method and it revealed that the onset of anionic motion, presumably the 90° reorientation of the anion approximately as a whole about its C4 axis occurs near 200 and 250 K, respectively, with a rather small activation energy of ca. 30 kJ mol−1 for both complexes. The correlation time of chlorine nuclei for the C4 reorientation of the anions obtained at various temperatures indicated that the fade‐out phenomenon of 35Cl NQR signals observed for these complexes can be explained by the life‐time broadening. From the frequency dependence of 1H T1, the quadrupole coupling constant of chlorine nuclei for both complexes could be roughly estimated at higher temperatures where no signals could be detected by the usual NQR technique because of the fade‐out phenomenon. For (guH)AuCl4, unusual temperature and frequency dependences of 1H T1 attributable to the cross relaxation between 1H and chlorine nuclei were also observed above ca. 300 K and below ca. 230 K.
Defect Structure and Transport Properties of Manganese Oxides: (I) The Nonstoichiometry of Manganosite (Mn1‐ΔO)
Authors: Keller M. , Dieckmann R.
Published: July 2012

The deviation from stoichiometry Δ in manganosite (Mn1‐ΔO) has been studied thermogravimetrically as a function of oxygen activity between 900 and 1400°C. Two formal fits of the deviation from stoichiometry as a function of oxygen activity and temperature are reported. From the experimental data, it is concluded that cation vacancies and holes are the predominant defect species over most or all of the manganosite stability range at high temperatures. The electrical conduction and cation diffusion in manganosite are analyzed briefly with regard to the defect structure of this oxide.
The Electrochemical Behaviour of Manganese(II)‐Hydroxide and Manganese(II)‐Hydroxide/Aluminum Hydroxide
Authors: Bauer Jürgen , Buss Dieter H. , Glemser Oskar
Published: July 2012

Through computer control, precipitated manganese(II)‐hydroxide and manganese(II)‐hydroxide/aluminum hydroxide are investigated as positive electrodes for secondary cells in aqueous potassium hydroxide solution with regard to charge capacity and cycling behaviour. Pure Mn(OH)2 is oxidizable to MnO1.21, the discharge capacity qd lies between 17.2 and 24.0 in mAh/g; ca. 50 cycles are measured during decreasing discharge capacity. Manganese(II)‐hydroxide/aluminum hydroxide takes up comparatively more charge with better Faraday‐efficiency and can reach the oxidation stage MnO1.48. The determined maximal discharge capacity qd with 121 mAh/g is also much greater than with Mn(OH)2; with decreasing discharge capacity 60–70 cycles are observed. The electrochemical properties are influenced by the pH value of the precipitation medium.
Polymere als Träger und Speicher von Informationen
Authors: Kämpf G.
Published: July 2012

Die technologische Entwicklung in den 80er und 90er Jahren wird weltweit durch Fortschritte der Mikroelektronik, im besonderen der Informationsspeicherung und ‐verarbeitung, bestimmt sein. Fortschritte in der Informationsspeicherung sind direkt verknüpft mit der Technik, große Datenmengen auf kleinstem Raum irreversibel oder — vorzugsweise — reversibel zu speichern. Durch Bereitstellung und systembezogene Anpassung intelligenter spezieller Polymerwerkstoffe könnte die Entwicklung fortschrittlicher löschbarer Speicher hoher Speicherdichte initiiert werden. Die weltweit beobachtbaren Aktivitäten auf diesem interessanten Gebiet stehen noch am Anfang; sie lassen sich derzeit in folgende Entwicklungsrichtungen differenzieren:

— Löschbare Speicher auf Basis von Photopolymeren, von kristallisierfähigen Polymeren, von ferroelektrischen Polymeren, von Polymeren mit flüssigkristallinen Seitenketten.

— Nicht selektiv löschbare Speicher mit 2‐dimensionaler Speicherung über Ort und Frequenz durch „photochemisches Lochbrennen”︁, mit 3‐dimensionaler Speicherung über Volumen‐Hologramme.

— Entwicklung molekular‐elektronischer Schalt‐ und Speicherelemente über den gezielten Einbau von Molekülgruppen mit bistabilen Zuständen sowie mit Donator‐ resp. Akzeptor‐Eigenschaften.

Im Fortschrittsbericht wird über den derzeitigen Stand der Technik referiert und an Hand eines kritischen Vergleichs der verschiedenen Entwicklungsarbeiten versucht, die mögliche zukünftige Bedeutung polymerer Speicher höchster Datendichte in Konkurrenz zu den etablierten Technologien abzuschätzen.
Compound Membranes of Linearly Polymerized and Cross‐Linked Macrolipids with Phospholipids: Preparation, Microstructure and Applications
Authors: Sackmann E. , Egg P. , Fahn C. , Bader H. , Ringsdorf H. , Schollmeier M.
Published: July 2012

Methods for the assembly and for studying the structural and dynamic properties of partially polymerized membranes are described. Mixtures of two classes of polymerizable amphiphiles with diacyl phosphatidylcholines are studied: (1) phosphatidylcholines carrying a diacetylene group per chain (abbreviated as (m,n)‐DIINPC (where m + n + 6 equals number of C‐Atoms per chain) and (2) a phospholipid‐like molecule with a polymerizable methacryl ligand connected to the phosphate head group via (CH2CH2O)m spacers which is abbreviated as (m.n)‐POMECY (n = number of C‐atoms per chain). — Phase diagrams of the lipid mixtures are established by static light scattering in combination with freeze fracture electron microscopy. The latter technique is also used to study the microscopic organization of the components before and after polymerization. Measurements of lateral diffusion by the photobleaching technique allow to determine (1) the fraction of lipid polymerized and (2) the liquidus and solidus lines of individual vesicles. — By suitable choice of the chain lengths of the components, giant vesicles with DIINPC's can be prepared in such a way that they are stable against transitions into the solid state which is a prerequisite for polymerization of this lipid. For that, use is made of the domain‐like lateral organization of the lipid components. The cross‐linked DIINPC‐domains exhibit a structure reminiscent of a two‐dimensional sponge with inclusions (microdomains) of monomeric lipid embedded into the network. The mechanical stability of the vesicles against repeated transitions through the phase changes is established by phase contrast microscopy and the tightness by a fluorescence technique. By absorption spectroscopy the existence of a “red” and a “white” species of macrolipid is established. — The mixed vesicles with POMECY exhibit a much mechanical stability against phase changes but are less tight with respect to leakage of small dye molecules. By freeze fracture electron microscopy the degree of polymerization was estimated to N ⌣︁ 100. These membranes behave as two‐dimensional macromolecular solutions up to about 10 mole‐% of the polymerizable component. Above this limit lateral decomposition into a dilute solution and a two‐dimensional polymer melt occurs.
Molecular Composition and Thermochemistry of Tin(II), Lead(II), and Scandium(III) Iodide Vapours
Authors: Hilpert K. , Bencivenni L. , Saha B.
Published: July 2012

The vaporization of tin(II), lead(II), and scandium(III) iodide was studied by high‐temperature mass spectrometry with a Knudsen cell. The monomer and dimer molecules (SnI2)i(g), (PbI2)i(g), and (ScI3)i(g) (i = 1,2) were identified. Enthalpies and entropies of dimerization, equilibrium partial pressures as well as enthalpies and entropies of sublimation were evaluated for the gaseous molecules. Their molecular parameters and the thermodynamic functions computed from them are given. Appearance potentials were determined for the various ions observed upon vaporizing the three different metal iodides.
On the Conductivity of Polycrystalline Materials
Authors: Maier Joachim
Published: July 2012

Expressions for the conductivity and impedance of polycrystalline materials are given for a greatly simplified grain distribution topology. We include not only contributions from the bulk and the proper grain boundary, but also series and parallel contributions from the space charge regions surrounding the grain boundaries. The relations obtained are applied to conductance measurements of bicrystalline and of ceramic ionic conductors (silver halides). ‐ It is shown that the space‐dependent grain boundary conductivity can be taken account of to a first approximation by introducing effective charge carrier concentrations and an effective width, and thus normal resistor‐elements. The experiments give evidence for both the presence of highly conductive space charge layers adjacent to the grain boundaries (manifesting in the high frequency impedance semi‐circle) and the presence of less conductive core regions (manifesting in the low frequency circle) in the silver halides.
“Ordered” Distribution of Ionic Micelles in Dilute Solutions of Alkyltrimethylammonium Chloride as Studied by Small‐Angle X‐ray Scattering
Authors: Ishii Yasuo , Matsuoka Hideki , Ise Norio
Published: July 2012

The solutions of ionic micelles of dodecyl‐, tetradecyl‐ and hexadecyl‐trimethylammonium chlorides were studied by small‐angle X‐ray scattering (SAXS). The SAXS curves showed a single, broad peak. The interference functions S(Q) were obtained from the scattering curves. The radial distribution function g(r) was calculated from S(Q) and the distances between nearest neighboring micelles were evaluated. The intermicellar distances (rm) evaluated from g(r) were close to the average distance calculated by assuming a uniform distribution of the micelles throughout the solution. This fact indicates that the intermicelle attractive force through the intermediary of counterions was weak, because the number of charges on the micelles was small. A difference between rm and the Bragg spacing calculated from the overall intensity of scattered X‐ray was noticed but it was not large enough to invalidate our previous interpretation that the Bragg spacing is an approximate measure of the ordered structure. By taking into account the paracrystalline distortion, the lattice factor Z(Q) was calculated. Excellent agreement was obtained with the structure factor S(Q) for a face‐centered cubic lattice structure when the distortion factor was assumed to be about 0.2. The number of peaks of the lattice factor decreased with increasing distortion factor. This suggests the incorrectness of the often expressed view that the single broad peak is not reminiscent of some kind of ordering: in this view the large distortion, which exists in solutions and at ambient temperatures, has been overlooked.
Time Delayed Two Photon Processes: II. Duschinsky Mixing Effects
Authors: Cribb Peter H. , Brickmann Jürgen
Published: July 2012

Time delayed two photon processes via a real nonstationary intermediate state are studied within a two dimensional model approach. Therein the molecular Born‐Oppenheimer surfaces are modelled by displaced, distorted and rotated harmonic oscillator potentials and the photon transitions are treated within the Condon approximation. The mode rotation (Duschinsky effect) leads to a strong mode selectivity of the two photon transition probability as a function of rotational angles and photon delay times.