SummaryApproximately 50% of essential thrombocythaemia and primary myelofibrosis patients do not have a JAK2 V617F mutation. Up to 5% of these are reported to have a MPL exon 10 mutation but testing for MPL is not routine as there are multiple mutation types. The ability to routinely assess both JAK2 and MPL mutations would be beneficial in the differential diagnosis of unexplained thrombocytosis or myelofibrosis. We developed and applied a high resolution melt (HRM) assay, capable of detecting all known MPL mutations in a single analysis, for the detection of MPL exon 10 mutations. We assessed 175 ET and PMF patients, including 67 that were JAK2 V617F-negative by real time polymerase chain reaction (PCR). Overall, 19/175 (11%) patients had a MPL exon 10 mutation, of whom 16 were JAK2 V617F-negative (16/67; 24%). MPL mutation types were W515L (11), W515K (4), W515R (2) and W515A (1). One patient had both W515L and S505N MPL mutations and these were present in the same haemopoietic colonies. Real time PCR for JAK2 V617F analysis and HRM for MPL exon 10 status identified one or more clonal marker in 71% of patients. This combined genetic approach increases the sensitivity of meeting the World Health Organization diagnostic criteria for these myeloproliferative neoplasms.

SummaryThis study looked for clonal diversity in patients with a myeloproliferative neoplasm associated with more than one acquired genetic lesion. A tyrosine kinase mutation and a cytogenetic lesion were present in the same clone in six of seven patients. By contrast, the genetic lesions were present in separate clones in all six patients with two tyrosine kinase pathway mutations. Moreover, in two patients the clones were genetically unrelated by X-chromosome inactivation studies. These data demonstrated clonal diversity in a subset of patients with early stage haematopoietic malignancy and showed, for the first time, that such clones may arise independently.

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The main purpose of the present research was to study the anxiety level among diabetic and non diabetic people (both male and female). The study was conducted over a sample of 160 people (80- male: 40 diabetic and 40 on diabetic as well as 80- female: 40 diabetic and 40 non diabetic). For the purpose of the measuring anxiety level of participants the Beck anxiety inventory was used. The obtained data were analyzed and interpreted on using statistical tools such as mean, standard deviation, and t – test. The results reported that statistically significant difference observed among diabetic and non diabetic male participants in relation to anxiety their level. As regarding to female participants with diabetic and non diabetic also significantly differ on their scores on anxiety. In conclusion the anxiety level was significantly higher in diabetic people both: male as well as female.