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1. Three families with a form of myotonia (muscle stiffness due to membrane hyperexcitability) clinically distinct from previously classified myotonias were examined. The severity of the disease greatly differed among the families. 2. Three dominant point mutations were discovered at the same nucleotide position of the SCN4A gene encoding the adult skeletal(More)
We have cloned a novel aquaporin (AQP) from Xenopus laevis oocytes, which we have provisionally named AQPxlo. The predicted protein showed highest homology (39-50%) to aquaglyceroporins. Northern blot analysis showed strong hybridization to an approximately 1.4-kb transcript in X. laevis fat body and oocytes, whereas a weaker signal was obtained in kidney.(More)
AIM Evaluation of the effectiveness of radiosynoviorthesis (RSO) in osteoarthritis and other disorders with concomitant synovitis versus rheumatoid arthritis by means of a standardized questionnaire. PATIENTS, METHODS 803 RSO treatments were monitored in 691 patients by standardized questionnaires of 7 centers in 3 countries. Patients were assigned to 3(More)
Chronic myelogenous leukemia (CML) is characterized by the presence of a Bcr-Abl fusion protein with deregulated tyrosine kinase activity that is required for maintaining the malignant phenotype. Imatinib, a selective inhibitor of Bcr-Abl, induces major cytogenetic remission (MCR) or complete cytogenetic remission (CCR) in the majority of patients with CML(More)
Deletions of the derivative chromosome 9 occur in a subset of patients with Philadelphia chromosome-positive chronic myeloid leukemia (CML) and are associated with a poor prognosis on standard drug therapy. However, it is currently unknown if the presence of deletions influences the response to imatinib, an Abl-specific tyrosine kinase inhibitor, that has(More)
BACKGROUND Human bone marrow contains hematopoietic stem cells and stroma cells known as mesenchymal stem cells (MSC). MSC are cells with the morphological features of fibroblasts, which, in addition to their nursing function for hematopoietic stem cells, retain the ability to differentiate into cartilage, bone, fat, muscle, and tendon and have an important(More)
STUDY OBJECTIVES We evaluated the effects on pulmonary function of irradiating lung cancer with protons alone or protons combined with photons. DESIGN Prospective phase I/II study. SETTING University medical center. PATIENTS AND INTERVENTIONS Ten patients with stage I-II non-small cell lung cancer (NSCLC) and FEV(1) < or = 1.0 L were irradiated with(More)
BACKGROUND [corrected] Advanced glycation end products (AGEs), total homocysteine (tHcy) and the homocysteine metabolites cystathionine (Cysta) and dimethylglycine (DMG) are increased in serum of patients with end-stage renal disease. The aim of this prospective randomized study was to compare the efficacy of polysulfone high-flux vs. polysulfone low-flux(More)
UNLABELLED The aim of this prospective study was to determine the role of FDG-PET in the follow up care of patients with pancreatic carcinoma in comparison with sonography, computed tomography and tumour marker levels. 19 patients were investigated, 9 patients with non-resectable tumour disease and 10 patients after resection of primary tumor. We found(More)