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Essential thrombocytaemia

Morten Orebo Holmström, Lukas Frans Ocias, Klaus Kallenbach, Lasse Kjær, Thomas Kielsgaard Kristensen, Niels Pallisgaard, Bodil Laub Petersen, Vibe Skov, Karin de Stricker, Thomas Stauffer Larsen, Hans Carl Hasselbalch
The chaperone and calcium storing protein calreticulin is coded by CALR, and newly identified mutations in CALR are found in respectively 49-70% and 56-88% of JAK2- and MPL-negative patients with essential thrombocytaemia (ET) and primary myelofibrosis (PMF). A total of 41 mutations have been identified, all located to exon 9 which codes the protein's C-terminal. CALR mutations are present only in myeloid malignancies and confer a more indolent disease than JAK2-mutated ET and PMF. CALR mutations as a diagnostic and prognostic tool are promising and the mutations are potential targets for immune therapy...
May 4, 2015: Ugeskrift for Laeger
G Espinosa, J Font, F J Muñoz-Rodríguez, R Cervera, M Ingelmo
A variety of systemic autoimmune disorders have been reported in patients with myelodysplastic and myeloproliferative syndromes. A possible association with polymyalgia rheumatica and giant cell arteritis has also been recognised. We report another case of polymyalgia rheumatica and one of giant cell arteritis associated with a myelodysplastic syndrome and the two first cases of giant cell arteritis associated with essential thrombocytaemia and chronic myelomonocytic leukaemia, respectively. It seems that there is a relationship between these entities, but the nature of this association is still unknown...
August 2002: Clinical Rheumatology
H H Meyer, B Mlasowsky, G Ziemer, M Tryba
We present a female patient in whom numerous lumbar punctures for epidural anaesthesia were followed by a delayed development of a large subcutaneous haematoma in the lumbar region. The outcome was fatal. The patient's basic disease was found to be chronic myeloic leukaemia that had caused an excessive elevation of platelet count. We, therefore, suggest that lumbar punctures for epidural anaesthesia should be approached with extreme care in cases of thrombocytaemia. If possible, repeated punctures for the placement of epidural catheters should be avoided...
October 1985: Anästhesie, Intensivtherapie, Notfallmedizin
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