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Haemophilia A and B--two years experience of genetic counselling and prenatal diagnosis
Haemophilia A. Thirty-one pregnant women, obligate or probable carriers of haemophilia A, requested prenatal diagnosis if sex determination showed the foetus to be a male. In 11 of the 31 cases the foetuses were females; in two, the genetic variant of the disease rendered prenatal diagnosis impossible; and in two, the mother aborted spontaneously. From the remaining 16 male foetuses, blood samples
Simulating terahertz quantum cascade lasers: Trends from samples from different labs
We present a systematic comparison of the results from our non-equilibrium Green's function formalism with a large number of AlGaAs-GaAs terahertz quantum cascade lasers previously published in the literature. Employing identical material and simulation parameters for all samples, we observe that the discrepancies between measured and calculated peak currents are similar for samples from a given g
Selection of an optimal feature set to predict heart transplantation outcomes
Heart transplantation (HT) is a life saving procedure, but a limited donor supply forces the surgeons to prioritize the recipients. The understanding of factors that predict mortality could help the doctors with this task. The objective of this study is to find locally optimal feature sets to predict survival of HT patients for different time periods. To this end, we applied logistic regression to
Formation and Early Evolution of Planetary Systems
Planeter är mycket vanliga i vår galax. De senaste 20 åren har man upptäckt att de flesta solliknande stjärnor har planeter kretsande omkring sig. Man vet också att det finns en stor variation av exoplaneter. Runt 50\% av alla solliknande stjärnor har superjordar (planeter med en massa eller radie mellan jordens och Neptunus) kretsande tätt intill sig vilket gör solsystemet otypiskt. Man har hittaOver the past 20 years we have discovered that exoplanets are common in the Galaxy, and are far more diverse than anyone expected. Half of all Sun-like stars are accompanied by at least one super-Earth (a planet with a size between Earth and Neptune), many planets have very high eccentricities indicative of a dynamical origin, and a small fraction of stars are accompanied by hot Jupiters, whose or
CRISPR/Cas9-Mediated Correction of the Sickle Mutation in Human CD34+ cells
Targeted genome editing technology can correct the sickle cell disease mutation of the β-globin gene in hematopoietic stem cells. This correction supports production of red blood cells that synthesize normal hemoglobin proteins. Here, we demonstrate that Transcription Activator-Like Effector Nucleases (TALENs) and the Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9 nuclease
Reactivating Fetal Hemoglobin Expression in Human Adult Erythroblasts Through BCL11A Knockdown Using Targeted Endonucleases
We examined the efficiency, specificity, and mutational signatures of zinc finger nucleases (ZFNs), transcriptional activator-like effector nucleases (TALENs), and clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 systems designed to target the gene encoding the transcriptional repressor BCL11A, in human K562 cells and human CD34+progenitor cells. ZFNs and TALENs were delivere
Immunocytochemical localisation of neuronal nitric oxide synthase in developing and transplanted rabbit retinas
Nitric oxide (NO) acts as a modulator of neuronal transmission in mature neuronal systems, including the retina. Recently, NO has also been suggested to have a trophic function during development. We examined immunocytochemically the distribution of NO-producing cells in developing and transplanted rabbit retinas. An antibody detecting the neuronal isoform of its biosynthetic enzyme, nitric oxide
Stimulation-evoked release of purines from the rabbit retina
The evoked release of purines from rabbit retinae preloaded with [(3)H]adenosine was studied in vitro. Potassium (8.6-43.6 mM) and ouabain (1 or 10 microM) increased the release of radioactivity in a concentration-dependent manner. The K(+)-evoked release was significantly reduced when the superfusion was carried out at 2-4 degrees C. The effect of K(+) (8.6, 13.6 and 23.6 mM) and of ouabain (1 mi
Localization of enkephalinergic neurons in the central nervous system of the salmon (Salmo salar L.) by in situ hybridization and immunocytochemistry
The distribution of neurons expressing preproenkephalin (PPE) mRNA in the brain of the salmon was investigated by means of non-radioactive in situ hybridization, and directly compared with the distribution of enkephalin-immunoreactive (ENKir) neurons. This approach, utilized here for the first time in a non-mammalian vertebrate for the identification of neurons containing opioid peptides, permitte
In situ hybridization of neuropeptide Y (NPY) mRNA in the goldfish brain
The distribution of neurones expressing neuropeptide Y (NPY) mRNA in the brain of the goldfish was investigated using a non-radioactive in situ hybridization technique. Neurones expressing NPY mRNA were located in cell groups previously shown to exhibit NPY immunoreactivity in the ventral telencephalon, thalamus, optic tectum and a region adjacent to the locus coeruleus. In addition, neurones expr
Expression of brain-derived neurotrophic factor and of its functional receptor in neonatal and adult rat retina
The expression of mRNA coding for brain-derived neurotrophic factor (BDNF) and for its functional receptor, the full-length tyrosine kinase receptor trkB (trkB mRNA), was examined in early postnatal and adult rat retina by in situ hybridization using digoxygenin and radioactively-labeled oligonucleotide probes. BDNF and trkB mRNAs are expressed in the ganglion cell layer at postnatal-days (PN) 1,
Localisation of neuronal nitric oxide synthase-immunoreactivity in rat and rabbit retinas
The distribution of neuronal nitric oxide synthase (NOS) immunoreactivity was examined in rat and rabbit retinas and was compared with the distribution of nicotinamide adenine dinucleotide phosphate (NADPH)-diaphorase reactivity and vasoactive intestinal peptide (VIP) immunoreactivity. An antibody raised against a C-terminal fragment of a cloned rat cerebellar NOS was used to localise NOS immunore
Distribution of GABA immunoreactivity in kainic acid-treated rabbit retina
Ischaemic retinal cell degeneration seems to involve both NMDA and non-NMDA receptor over-stimulation. However, different retinal cell types differ largely in their susceptibility to excitatory amino acid-induced neurotoxicity. We have investigated the vulnerability of GABAergic cells in the rabbit retina to the non-NMDA receptor agonist kainic acid (KA). The distribution of GABA immunoreactivity
Colocalization of (3H)-adenosine accumulation and GABA immunoreactivity in the chicken and rabbit retinas
Using combined autoradiography and immunohistochemistry, we have compared (3H)-adenosine accumulation and GABA immunoreactivity in the chicken and rabbit retinas. Colocalization of the two markers was observed in a subset of amacrine cells and in certain cell bodies in the ganglion cell layer in both species and in a few horizontal cells in the chicken retina. Cells that contained only (3H)-adenos
Release of endogenous and radioactive purines from the rabbit retina
The adenine nucleotide pool of rabbit retina was labeled by an intravitreal injection in vivo of [3H]adenosine. Practically all the radioactivity was retained in the form of adenine nucleotides. The relative proportion of [3H]adenine nucleotides was the same as that of endogenous nucleotides. Potassium depolarization (43.6 mM) in vitro caused a rapid increase in the rate of release of radioactive
Autoradiography of nucleoside uptake into the retina
A selective uptake mechanism for some nucleosides and related substances was found in retinae of light adapted rabbits and fish. After the intravitreal injection in vivo of [(3)H]adenosine, [(3)H]inosine, [(3)H]guanosine and certain related compounds, the distribution of radioactivity was studied by autoradiography. Retinae were also incubated in [(3)H]adenosine and [(3)H]inosine and then were sim
Adenosine in vertebrate retina : localization, receptor characterization, and function
1. The uptake of [3H] adenosine into specific populations of cells in the inner retina has been demonstrated. In mammalian retina, the exogenous adenosine that is transported into cells is phosphorylated, thereby maintaining a gradient for transport of the purine into the cell. 2. Endogenous stores of adenosine have been demonstrated by localization of cells that are labeled for adenosine-like imm
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The Construction of the "I" in the Lord's Prayer : A Social-constructive Discourse Analysis
This paper addresses how the “I” of the praying individual is constructed in the interaction with the divinity in the praying of the Lord’s Prayer. This approach draws on social-constructive theory on identity formation and developmental psychology and a close reading of the Lord’s Prayer in Matthew 6 and the Sermon on the Mount. It is the assertion of this paper that a discourse analysis of the L
