8 results match your criteria: "University of Nijimegen[Affiliation]"

Hereditary nephrogenic diabetes insipidus (NDI) is caused by mutations in either the X-chromosomal gene encoding the vasopressin V2-receptor or in the autosomal gene encoding aquaporin-2. Expressed in Xenopus oocytes, the AQP2 gene mutations found in NDl have been shown to reduce the stability of the encoded protein. This study investigated the in vivo stability of mutant and wild-type aquaporin-2 proteins by measuring their excretion in urine of NDl patients and healthy individuals.

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Article Synopsis
  • Congenital sucrase-isomaltase deficiency is caused by a mutation that prevents the transportation of the sucrase-isomaltase enzyme to its proper location in the cell, leading to its accumulation in the endoplasmic reticulum and eventual degradation.
  • A specific mutation (A/C at nucleotide 3298) was identified in the sucrase subunit, resulting in a change from glutamine to proline (Q1098P), which affects the enzyme's functional ability.
  • This research marks the first identification of a point mutation in the SI gene that underlies the dysfunction and transport issues of sucrase-isomaltase.
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Background And Objectives: The purpose of the study is to determine the ideal concentration of morphine when given with bupivacaine as a continuous high thoracic epidural infusion for postthoracotomy pain.

Methods: In a prospective study, 60 patients scheduled for thoracic surgery received a high thoracic epidural catheter. Postoperative analgesia was provided by a continuous epidural infusion for 3 days.

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Application of the boundary element method to the solution of anisotropic electromagnetic problems.

Med Biol Eng Comput

July 1994

Laboratory of Medical Physics and Biophysics, University of Nijimegen, The Netherlands.

The paper discusses the application of the boundary element method to the computation of the electric potential and magnetic field generated by bioelectric sources in an anisotropic inhomogeneous volume conductor, using a proper coordinate transformation. It is shown that the co-ordinate transformation generally not only affects the conductivity and geometry of the volume conductor under consideration, but also the current source term and the continuity relation on the interfaces bounding regions of different conductivity. To illustrate these results, the electric potentials in an anisotropic finite length cylinder and in an anisotropic volume conductor of irregular (torso) shape, computed by the boundary element method, are compared with the results obtained by the analytical solution and the finite element method, respectively.

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Increased expression of heat-shock protein 27 kDa in Alzheimer disease: a preliminary study.

Neuroreport

October 1993

Research Laboratory of Morphological Neurology, University of Nijimegen, University Hospital, The Netherlands.

Stress-response (heat shock) proteins (hsps) are induced in living cells under pathological conditions, including diseases of the central nervous system. Increased synthesis of hsps is suggested to play a role in preventing neuronal injury in Alzheimer disease (AD). Using a highly specific antibody we have studied the expression of heat shock protein 27 kDa (hsp 27), in the brains of AD and non-demented, age-matched control patients.

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16-Ene-steroids in the human testis.

J Steroid Biochem Mol Biol

January 1992

Department of Medicine, University of Nijimegen, The Netherlands.

Incubation of human testicular homogenates with [4-14C]pregnenolone gave substantial amounts of an unknown metabolite within 1 min, reaching plateau values of 17-23% of total radioactivity added within 5 min. Mass spectrometry of the metabolite showed it to be identical to the boar sex pheromone precursor androsta-5, 16-diene-3 beta-ol (ADL). In cell cultures the major source of ADL and its dehydrogenated metabolite androsta-4, 16-diene-3-one (ADN) was the Leydig cell.

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