julilili42/papers huggingface dataset:
Complete form of X-linked congenital stationary night blindness: Refined mapping and evidence of genetic homogeneity
2001-02-01

A number of distinct, partly non-overlapping genetic loci have been reported for the complete type of X-linked congenital stationary night blindness (CSNB1), suggesting genetic heterogeneity. In order to refine the localization of the CSNB1 gene and to demonstrate genetic homogeneity, linkage analysis was performed in two large CSNB1 families. Clinical features consistent with the diagnosis of CSNB1 were documented in five patients from a German seven-generation kindred by full ophthalmological examination including psychophysical and electroretinographical testing. Haplotype analysis in 30 members of the large German family was performed with 38 polymorphic markers predominantly covering the critical region. Linkage analyses defined a locus for CSNB1 with flanking markers DXS8042 and DXS228, refining the interval to 2.5 cM in Xp11.4. In addition, two-point linkage analysis was carried out using the MLINK computer program. In agreement with meiotic breakpoints, lod scores of 3.0 and greater were obtained for markers located to the proximal site of the former 5 cM CSNB consensus interval. A large Dutch CSNB1 family was re-evaluated with markers from the Xp11.4 region, and supports the CSNB1 minimal interval found in the German family. Together with previous results from three unrelated families from Sweden, Sardinia and Great Britain, our results provide evidence of genetic homogeneity in the disorder. Subsequent mutation analyses in CSNB1 patients revealed no pathogenic sequence alterations in DFFRX and CASK genes, but retain candidates for other diseases mapping to that region.
Adult Gaucher disease in association with primary malignant bone tumors
2001-02-01

BACKGROUND Malignant neoplastic disorders are more common in patients with Gaucher disease (GD) than in the general population. Very few cases of primary malignant bone tumors in association with GD have been reported to date. Thus, the recommendations for an adequate therapy are often based on limited professional experience. To their knowledge, the authors report the first case of a leiomyosarcoma of the bone in a patient with GD and report another patient with GD and an anaplastic large cell non-Hodgkin lymphoma with localized osseous manifestation. A review of the literature is included. METHODS The clinical, radiologic, and histologic data of the authors' two patients who had GD and primary malignant bone tumor are presented. Epidemiologic data, clinical data, and treatment results from published reports of 18 patients who had GD and various malignancies and the authors' 2 patients were compared and evaluated. RESULTS Radiographic examination showed a destructive osteolytic lesion in a case of a leiomyosarcoma of the bone and in a case of anaplastic, large-cell, non-Hodgkin lymphoma. In both cases, the bone marrow architecture was partially effaced by sheets of large histiocytic cells with striated or fibrillary cytoplasm. In both patients, chemotherapy was performed. Whereas the patient who had the leiomyosarcoma showed poor recovery of the bone marrow that necessitated withdrawal of aggressive chemotherapy, the patient who had non-Hodgkin lymphoma and enzyme therapy tolerated the chemotherapy well. In spite of local control after preoperative radiotherapy and hemipelvectomy, the first patient developed lung metastases and finally died. The second patient was continuously free of disease at a follow-up examination 32 months after chemotherapy and radiotherapy. In a total of 20 patients who had malignant disorders and GD, the numbers of males and females were equivalent, and the mean age was 55 years. Approximately 33% presented with a cancer originating in the bone. In 16 patients, follow-up data were available. Of these, after a mean follow-up of 36 months (range, few days–108 mos), only 2 patients were continuously free of disease, and one patient was alive with disease. The other patients had died of disease or hemorrhagic complications of GD. CONCLUSIONS Because there is a relatively high incidence of malignant disorders of the bone, the study suggested that malignant disorders have to be included in the differential diagnosis of painful lytic lesions in patients who have GD. Evaluation of the expense and value of enzyme therapy to patients who have GD should be undertaken with regard to the incidence of malignant disorders and patient survival. Cancer 2001;91:457–62. © 2001 American Cancer Society.
Threshold calculation for segmented attenuation correction in PET with histogram fitting
2001-02-01

Various techniques for segmented attenuation correction (SAC) have been shown to be capable of reducing transmission scan time significantly and performing accurate image quantification. The majority of well established methods are based on analyzing attenuation histograms to classify the main tissue components, which are lung and soft tissue. Methods using statistical approaches, i.e. class variances, to separate two clusters of a measured attenuation map have been shown to perform accurate attenuation correction at a scan lime within a range of 2-3 min, but may fail due to peak deformations, which occur when the transmission scan time is further reduced. The authors implemented a new method for segmented attenuation correction with the aim of minimizing the transmission scan time and increasing the robustness for extremely short scan times using a coincidence transmission device. The implemented histogram fitting segmentation (HFS) allows accurate threshold calculation without assuming normally distributed peaks in the histogram, by adapting a suitable function to the soft tissue peak. The algorithm uses an estimated lung position (ELP) for patient contour finding and lung segmentation. Iterative reconstruction is used to generate the transmission images.
Aortico-pulmonary paraganglioma associated with bilateral carotid body tumors. Diagnostic presentation and clinical implications.
2001-02-01

A case of mediastinal paraganglioma in association with bilateral carotid body tumors is presented. Characteristic radiological findings included a hypointense signal in T1-weighted, a hyperintense signal in T2-weighted magnetic resonance (MR) images and a vascular enhancement pattern in dynamic contrast enhanced MR imaging. Thus, feeding vessels could be depicted noninvasively. The importance of family screening in affected individuals is stressed, as a hereditary form of the disease exists in which multiple paragangliomas are common.
[Adolescent arsonists--psychodynamics, family dynamics and attempt at framing a typology based on 40 expert opinions].
2001-02-01

Psychiatric, psychological and medical data of 40 adolescent firesetters are obtained from a retrospective analysis of expert opinions which have been drawn up by the Department of Child and Adolescent Psychiatry in Tübingen over a period of 16 years (1981-1997). This analysis mainly focusses on the patients' physical and psychosexual development, their social integration and competence and their family dynamics. It further concentrates on the psychic situation at the time of the offense, the reasons and motives given for firesetting (by the patient and by the expert) and specific psychological test results. According to the results three different characteristic groups can be found: 1st a group of offenders who have set fires to their parents' house, 2nd firesetters being member of the firebrigade, and 3rd an unspecific inhomogeneous group of firesetters.
The Cytokinesis Gene KEULE Encodes a Sec1 Protein That Binds the Syntaxin Knolle
2001-02-05

KEULE is required for cytokinesis in Arabidopsis thaliana. We have positionally cloned the KEULE gene and shown that it encodes a Sec1 protein. KEULE is expressed throughout the plant, yet appears enriched in dividing tissues. Cytokinesis-defective mutant sectors were observed in all somatic tissues upon transformation of wild-type plants with a KEULE–green fluorescent protein gene fusion, suggesting that KEULE is required not only during embryogenesis, but at all stages of the plant's life cycle. KEULE is characteristic of a Sec1 protein in that it appears to exist in two forms: soluble or peripherally associated with membranes. More importantly, KEULE binds the cytokinesis-specific syntaxin KNOLLE. Sec1 proteins are key regulators of vesicle trafficking, capable of integrating a large number of intra- and/or intercellular signals. As a cytokinesis-related Sec1 protein, KEULE appears to represent a novel link between cell cycle progression and the membrane fusion apparatus.
Expression of AMPA receptor subunit flip/flop splice variants in the rat auditory brainstem and inferior colliculus
2001-02-05

The expression of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) receptor subunit mRNAs and their flip/flop splice variants was evaluated in the rat auditory brainstem and inferior colliculus employing in situ hybridization with radiolabeled oligonucleotide probes. A differential expression of AMPA receptor subunits in auditory nuclei was observed. In general, neurons in all nuclei of the auditory brainstem express high levels of GluR-C flop and GluR-D flop mRNA, but low to very low levels of GluR-A and GluR-B mRNA. The strongest GluR-C and -D flop expression is found in the ventral and medial part of the anteroventral cochlear nucleus, the posteroventral cochlear nucleus, and the medial and the lateral superior olive. These nuclei are part of the binaural auditory pathway which is important for sound localization in space. In contrast, neurons in the central nucleus of the inferior colliculus express high levels of GluR-B flip but only low levels of the other AMPA receptor subunits. From our data, we conclude that neurons of nuclei involved in binaural processing exhibit a specific "auditory AMPA receptor" which consists primarily of GluR-C flop and -D flop and often lacks GluR-B subunits; this indicates fast kinetics and high Ca(2+) permeability of AMPA receptor currents. In contrast, neurons in the central nucleus of the inferior colliculus contain large amounts of GluR-B flip subunits resulting in Ca(2+) impermeable AMPA receptors with slow kinetics.
Sigma-term physics in the perturbative chiral quark model
2001-02-07

We apply the perturbative chiral quark model (PCQM) at one loop to analyse\\nmeson-baryon sigma-terms. Analytic expressions for these quantities are\\nobtained in terms of fundamental parameters of low-energy pion-nucleon physics\\n(weak pion decay constant, axial nucleon coupling, strong pion-nucleon form\\nfactor) and of only one model parameter (radius of the nucleonic three-quark\\ncore). Our result for the piN sigma term of about 45 MeV is in good agreement\\nwith the value deduced by Gasser, Leutwyler and Sainio using\\ndispersion-relation techniques and exploiting the chiral symmetry constraints.\\n
High‐resolution analysis of a 144‐membered pyrazole library from combinatorial solid phase synthesis by using electrospray ionisation Fourier transform ion cyclotron resonance mass spectrometry
2001-02-08

Abstract A compound library consisting of 144 pyrazole carboxylic acids and six sublibraries consisting of 24 components was analysed using electrospray ionisation Fourier transform ion cyclotron resonance mass spectrometry (ESI‐FTICR‐MS). The library was synthesised by the split‐mix method and investigated by direct infusion analysis by which 134 compounds were detected. FTICR‐MS is predestined for the direct characterisation of complex compound libraries because of its outstanding mass resolution and mass accuracy. However, discrimination within the electrospray ionisation process sometimes leads to signal suppression and thus to misinterpretation of the synthetic results. Using micro‐HPLC/MS we were able to assign all 144 compounds including all pairs of isobaric pyrazoles. We also show that, due to partial separation, FTICR‐MS is indispensable for proper detection of co‐eluting compounds. Copyright © 2001 John Wiley &amp; Sons, Ltd.
ChemInform Abstract: The Lithium Chloromolybdate Li[Mo6Cl13].
2001-02-13

Abstract ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
Radial oscillations of relativistic stars
2001-02-15

We present a new survey of the radial oscillation modes of neutron stars. This study complements and corrects earlier studies of radial oscillations. We present an extensive list of frequencies for the most common equations of state and some more recent ones. In order to check the accuracy, we use two different numerical schemes which yield the same results. The stimulation for this work comes from the need of the groups that evolve the full nonlinear Einstein equations to have reliable results from perturbation theory for comparison.
Excitation of neutron star oscillations by an orbiting particle
2001-02-15

The excitation of neutron stars is expected to be an important source of\\ngravitational radiation. Of fundamental importance is then to investigate\\nmechanisms that trigger oscillations in neutron stars in order to characterize\\nthe emitted radiation. We present results from a numerical study of the\\neven-parity gravitational radiation generated from a particle orbiting a\\nneutron star. We focus our investigation on those conditions on the orbital\\nparameters that favor the excitation of -modes. We find that, for\\nastrophysically realistic conditions, there is practically no -mode\\ncontribution to the emitted radiation. Only for particles with\\nultra-relativistic orbital speeds , the -mode does significantly\\ncontribute to the total emitted gravitational energy. We also stress the\\nimportance of setting consistent initial configurations.\\n
Stability and almost periodicity of asymptotically dominated semigroups of positive operators
2001-02-15

We discuss conditions such that strong stability and strong asymptotic compactness of a (discrete or continuous) semiflow defined on a subset in the positive cone of an ordered Banach space is preserved under asymptotic domination. This is used to show that on a Banach lattice with order continuous norm strong stability and almost periodicity of a (discrete or strongly continuous) semigroup of positive operators is preserved under asymptotic domination.
New approach to the evolution of neutron star oscillations
2001-02-15

We present a new derivation of the perturbation equations governing the\\noscillations of relativistic non-rotating neutron star models using the\\nADM-formalism. This formulation has the advantage that it immediately yields\\nthe evolution equations in a hyperbolic form, which is not the case for the\\nEinstein field equations in their original form. We show that the perturbation\\nequations can always be written in terms of spacetime variables only,\\nregardless of any particular gauge. We demonstrate how to obtain the\\nRegge-Wheeler gauge, by choosing appropriate lapse and shift. In addition, not\\nonly the 3-metric but also the extrinsic curvature of the initial slice have to\\nsatisfy certain conditions in order to preserve the Regge-Wheeler gauge\\nthroughout the evolution. We discuss various forms of the equations and show\\ntheir relation to the formulation of Allen et al. New results are presented for\\npolytropic equations of state. An interesting phenomenon occurs in very compact\\nstars, where the first ring-down phase in the wave signal corresponds to the\\nfirst quasinormal mode of an equal mass black hole, rather than to one of the\\nproper quasinormal modes of the stellar model. A somewhat heuristic explanation\\nto account for this phenomenon is given. For realistic equations of state, the\\nnumerical evolutions exhibit an instability, which does not occur for\\npolytropic equations of state. We show that this instability is related to the\\nbehavior of the sound speed at the neutron drip point. As a remedy, we devise a\\ntransformation of the radial coordinate inside the star, which removes this\\ninstability and yields stable evolutions for any chosen numerical resolution.\\n
Fluorescent and Electroactive Cyclic Assemblies from Perylene Tetracarboxylic Acid Bisimide Ligands and Metal Phosphane Triflates
2001-02-16

Tetraaryloxy-substituted perylene tetracarboxylic acid bisimides with one or two 4-pyridyl receptor substituents at the imide functionality were synthesized and employed in transition metal directed self-assembly with Pd(II) and Pt(II) phosphane triflates. Upon mixing of the components, quantitative formation of functional molecular square-type complexes containing four dye molecules and model complexes of a 2:1 (perylene bisimide ligand:transition metal ion) stoichiometry was observed. The isolated metallosupramolecular squares were characterized by 1H and 31P [1H] NMR spectroscopy as well as conventional electrospray ionization (ESI) and ESI-FTICR mass spectrometry, which gave evidence for the structure and the high stability of these giant cyclic dye assemblies (molecular weight (3a) 8172, Pt-Pt corner diagonal ca. 3.4 nm). Studies of the optical absorption and fluorescence properties and the electrochemistry and spectroelectrochemistry of both the perylene bisimide ligands and the perylene bisimide metal complexes show that Pt(II) coordination does not interfere with the optical and electrochemical properties of the perylene bisimide ligands; this gives squares with high fluorescence quantum yields (phiF (3a)=0.88) and three fully reversible redox couples. The latter could be unambiguously related to quantitative formation of perylene bisimide radical cations (E1/2 = +0.93 V vs. Fc/Fc+), radical anions (E1/2= - 1.01 V vs. Fc/Fc+), and dianions (E1/2 = -1.14 V vs. Fc/Fc+); these redox reactions change the charge state of the cyclic assembly from +12 to zero. In contrast, Pd(II) coordination influenced the electrochemical properties of the assembly because of an irreversible palladium reduction at E1/2= -1.15 V versus Fc/Fc+. Finally, dynamic ligand exchange processes between different metallosupramolecular assemblies were investigated by multinuclear NMR and electrospray mass spectrometry. These studies confirmed the reversible nature of the pyridine-Pt(II)/Pd(II) coordination process.
Fluorescent and Electroactive Cyclic Assemblies from Perylene Tetracarboxylic Acid Bisimide Ligands and Metal Phosphane Triflates
2001-02-16

Tetraaryloxy-substituted perylene tetracarboxylic acid bisimides with one or two 4-pyridyl receptor substituents at the imide functionality were synthesized and employed in transition metal directed self-assembly with PdII and PtII phosphane triflates. Upon mixing of the components, quantitative formation of functional molecular square-type complexes containing four dye molecules and model complexes of a 2:1 (perylene bisimide ligand:transition metal ion) stoichiometry was observed. The isolated metallosupramolecular squares were characterized by 1H and 31P {1H} NMR spectroscopy as well as conventional electrospray ionization (ESI) and ESI-FTICR mass spectrometry, which gave evidence for the structure and the high stability of these giant cyclic dye assemblies (molecular weight (3 a)=8172, Pt−Pt corner diagonal ca. 3.4 nm). Studies of the optical absorption and fluorescence properties and the electrochemistry and spectroelectrochemistry of both the perylene bisimide ligands and the perylene bisimide metal complexes show that PtII coordination does not interfere with the optical and electrochemical properties of the perylene bisimide ligands; this gives squares with high fluorescence quantum yields (ΦF (3 a)=0.88) and three fully reversible redox couples. The latter could be unambiguously related to quantitative formation of perylene bisimide radical cations (E1/2=+0.93 V vs. Fc/Fc+), radical anions (E1/2=−1.01 V vs. Fc/Fc+), and dianions (E1/2=−1.14 V vs. Fc/Fc+); these redox reactions change the charge state of the cyclic assembly from +12 to zero. In contrast, PdII coordination influenced the electrochemical properties of the assembly because of an irreversible palladium reduction at E1/2=−1.15 V versus Fc/Fc+. Finally, dynamic ligand exchange processes between different metallosupramolecular assemblies were investigated by multinuclear NMR and electrospray mass spectrometry. These studies confirmed the reversible nature of the pyridine−PtII/PdII coordination process.
Transition to resonance-rich matter in heavy-ion collisions at RHIC energies
2001-02-20

The equilibration of hot and dense nuclear matter produced in the central region in central Au+Au collisions at AGeV is studied within the microscopic transport model UrQMD. The pressure here becomes isotropic at fm/c. Within the next 15 fm/c the expansion of the matter proceeds almost isentropically with the entropy per baryon ratio . During this period the equation of state in the -plane has a very simple form, . Comparison with the statistical model (SM) of an ideal hadron gas reveals that the time of fm/ may be too short to attain the fully equilibrated state. Particularly, the fractions of resonances are overpopulated in contrast to the SM values. The creation of such a long-lived resonance-rich state slows down the relaxation to chemical equilibrium and can be detected experimentally.
Enhanced strange particle yields - signal of a phase of massless particles?
2001-02-20

The yields of strange particles are calculated with the UrQMD model for p,Pb(158 AGeV)Pb collisions and compared to experimental data. The yields are enhanced in central collisions if compared to proton induced or peripheral Pb+Pb collisions. The enhancement is due to secondary interactions. Nevertheless, only a reduction of the quark masses or equivalently an increase of the string tension provides an adequate description of the large observed enhancement factors (WA97 and NA49). Furthermore, the yields of unstable strange resonances as the Lambda_star(1520) resonance or the phi meson are considerably affected by hadronic rescattering of the decay products.
ChemInform Abstract: Synthesis of Hexacyanotriphenylene and Hexacyanotribenzylene.
2001-02-20

Abstract ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
Charge symmetry breaking of the nucleon-nucleon interaction: ρ-ω mixing versus nucleon mass splitting
2001-02-22

We investigate three models for the charge symmetry breaking (CSB) of the\\nnucleon-nucleon ( ) interaction (based upon - mixing, nucleon\\nmass splitting, and phenomenology) that all reproduce the empirical value for\\nthe CSB of the scattering length ( ) accurately. We\\nreveal that these models make very different predictions for CSB in \\nwaves and examine the impact of this on some observable quantities of \\nnuclear systems. It turns out that the H- He binding energy difference\\nis essentially ruled by and not very sensitive to CSB from \\nwaves. However, the Coulomb displacement energies (which are the subject of the\\nNolen-Schiffer anomaly) receive about 50% of their CSB contribution from \\npartial waves beyond . Consequently, the predictions by the various CSB\\nmodels differ here substantially (10-20%). Unfortunately, the evaluation of the\\nleading Coulomb contributions carry a large uncertainty such that no\\ndiscrimination between the competing CSB models can presently be made. To\\ndecide the issue we suggest to look into nuclear few-body reactions that are\\nsensitive to CSB of the nuclear force.\\n