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Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida

We report a 7-year-old girl with spina bifida carrying a complex chromosome abnormality resulting in duplication 16q 12.1 -q22.1. An abnormal karyotype was identified involving the long arm of chromosome 11. and fluorescent in, situ hybridization (FISH) to metaphase chromosomes revealed an insertion of part of chromosome 16 on chromosome 11. A detailed mapping of the chromosome abnormality using w

Quasielastic He-3(e,e(')p)H-2 reaction at Q(2)=1.5 GeV2 for recoil momenta up to 1 GeV/c

We have studied the quasielastic He-3(e,e(')p)H-2 reaction in perpendicular coplanar kinematics, with the energy and the momentum transferred by the electron fixed at 840 MeV and 1502 MeV/c, respectively. The He-3(e,e(')p)H-2 cross section was measured for missing momenta up to 1000 MeV/c, while the A(TL) asymmetry was extracted for missing momenta up to 660 MeV/c. For missing momenta up to 150 Me

Prospective malignancy grading, flow cytometry DNA-measurements and adjuvant chemotherapy for invasive squamous cell carcinoma of the uterine cervix

In a prospective study comprising 310 consecutive patients with carcinoma of the cervix, FIGO stages I-IV, the prognostic significance of clinical and flow cytometric variable was evaluated in a univariate and multivariate analysis. The parameters studied included stage according to FIGO, age, histopathologic grade according to Ackerman and MGS scores, DNA ploidy, S-phase fraction as well as treat

Benzenecarboxylate surface complexation at the goethite (alpha-FeOOH)/water interface: I. A mechanistic description of pyromellitate surface complexes from the combined evidence of infrared spectroscopy, potentiometry, adsorption data, and surface complexation modeling

An investigation combining IR spectroscopy, potentiometric titrations, and adsorption experiments was carried out to study pyromellitate (1,2,4,5-benzenetetracarboxylate) sorption at the goethite (alpha-FeOOH)/ water interface. The IR spectra show evidence of outer-sphere complexation throughout the pH range from 3 to 9. Below pH 6 additional IR spectroscopic features appear, which are tentatively

Towards An Internet Based Visual Tool for Communication with Consumers in Early Phases of the Product Development Process.

Perceptual consumer requirements are often disregarded in the product development process. The consequence of this is that products may become more attractive to the design practitioners than to the target consumers. This paper describes the development of a new internet based tool, VIPET (Visual Internet Product Emotion Tool), that can be used for global evaluation of visual product qualities by

Evaluation of the Energy Efficiencies for a Gas Heated Infrared Paper Dryer

The radiation and total efficiencies, the amount of gas radiation from vapour and carbon dioxide and contribution from convective heat transfer for different operating conditions have been measured and modelled in an industrial gas heated IR dryer. Instrumentation to facilitate the measurement of the spectral distribution of the radiation heat fluxes in industrial infrared equipment has been devel

Retesting Fair's (1978) model on infidelity

Modern econometrics stresses the diagnostic testing of estimated models as an important part of the model-building process. In a survey article published in this journal (Pagan and Vella, 1989), methods for testing the validity of the assumptions underlying the censored regression of the Tobit model were presented. This paper questions the numerical results presented there. Indeed, my results conc

Two-step steam pretreatment of softwood by dilute H2SO4 impregnation for ethanol production

Fuel ethanol can be produced from softwood through hydrolysis in an enzymatic process. Prior to enzymatic hydrolysis of the softwood, pretreatment is necessary. In this study two-step steam pretreatment by dilute H2SO4 impregnation to improve the overall sugar and ethanol yield has been investigated. The first pretreatment step was performed under conditions of low severity (180°C, 10 min, 0.5% H2

Transforaminal steroid injections for the treatment of cervical radiculopathy: a prospective and randomised study.

Steroid injections are often employed as an alternative treatment for radicular pain in patients with degenerative spinal disorders. Prospective randomised studies of the lumbar spine reveal contradictory results and non-randomised and most often retrospective studies of the cervical spine indicate pain reduction from steroid injections. No prospective randomised study on transforaminal steroid in

Stuttering and sensory gating: A study of acoustic startle prepulse inhibition.

It was hypothesized that stuttering may be related to impaired sensory gating, leading to overflow of superfluous disturbing auditory feedback and breakdown of the speech sequence. This hypothesis was tested using the acoustic startle prepulse inhibition (PPI) paradigm M. A group of 22 adults with developmental stuttering were compared with controls regarding the degree of PPI. No significant diff

Anti-androgenic treatment of obsessive-compulsive disorder: an open-label clinical trial of the long-acting gonadotropin-releasing hormone analogue triptorelin.

Some case reports have shown that patients suffering from obsessive-compulsive disorder can be effectively treated with anti-androgenic pharmacological agents with various modes of action. The most effective group of such agents is the long-acting analogues of the gonadotropin-releasing hormone. This investigation was undertaken in order to further elucidate the possibility of using such powerful

Infarct volume and functional outcome after pre- and postoperative administration of metyrapone, a steroid synthesis inhibitor, in focal brain ischemia in the rat

High blood levels of glucocorticoids are associated with increased mortality, confusion and poor functional outcome in stroke patients. It has been proposed that inhibition of glucocorticoids in acute stroke might be beneficial, but experimental data are conflicting and no long-term follow-up study has been reported. We have studied whether pre- or postoperative administration of metyrapone, a ste

Genetic engineering of the Trichoderma reesei endoglucanase I (Cel7B) for enhanced partitioning in aqueous two-phase systems containing thermoseparating ethylene oxide-propylene oxide copolymers

Endoglucanases (endo-1,4---glucan-4-glucanohydrolase, EC 3.2.1.4) are industrially important enzymes. In this study endoglucanase I (EGI or Cel7B) of the filamentous fungi Trichoderma reesei has been genetically engineered to investigate the influence of tryptophan rich peptide extensions (tags) on partitioning in an aqueous two-phase model system. EGI is a two-domain enzyme and is composed of a N

Congestive heart failure induces downregulation of P2X1-receptors in resistance arteries

OBJECTIVE: Congestive heart failure (CHF) is accompanied by enhanced peripheral sympathetic nerve activity, increased vascular resistance and impaired peripheral blood flow. Besides noradrenaline and neuropeptide Y, the sympathetic nervous system also releases ATP, which has contractile effects mediated by different subtypes of P2-receptors on the vascular smooth muscle cells. The present study wa

The gamma-carboxyglutamic acid and epidermal growth factor-like modules of factor IXa beta. Effects on the serine protease module and factor X activation

Blood coagulation factors IX and X are two serine proteases with a similar modular structure. The non-catalytic part of each protein consists of a gamma-carboxyglutamic acid (Gla)-containing module and two modules homologous to the epidermal growth factor (EGF) precursor. We have now found that the NH2-terminal EGF-like module of both factors IX and X inhibits factor Xa formation in a Gla-independ