Screening for calreticulin mutations in a cohort of patients suspected of having a myeloproliferative neoplasm

Background. The discovery of calreticulin (CALR) has shown it to be the second most frequent mutation after the Janus Kinase 2 (JAK2) mutation in myeloproliferative neoplasms (MPNs). Its structure indicates various functions, of which two are to ensure calcium homeostasis and proper folding of other target proteins. Over 36 types of CALR mutations have been identified, all causing a recurrent frameshift in the C-terminal domain affecting CALR’s localisation and calcium-binding function.Objective. To screen a cohort of 89 patients suspected of having an MPN for the CALR mutations.Methods. Capillary and gel electrophoresis were used in conjunction as confirmatory tests to screen the cohort of patients. Results. Of three samples containing a type 1 CALR mutation, two were heterozygous and one homozygous for a 52-base pair deletion in CALR.Conclusions. Most studies report CALR mutations to be present only in patients with primary myelofibrosis or essential thrombocythaemia, with mutual exclusivity to JAK2 mutations. The findings of this study indicate that JAK2 and CALR mutations are no longer considered mutually exclusive. Similarly, patients with a polycythaemia vera phenotype could also carry a CALR mutation

Screening for calreticulin mutations in a cohort of patients suspected of having a myeloproliferative neoplasm

Background. The discovery of calreticulin (CALR) has shown it to be the second most frequent mutation after the Janus Kinase 2 (JAK2) mutation in myeloproliferative neoplasms (MPNs). Its structure indicates various functions, of which two are to ensure calcium homeostasis and proper folding of other target proteins. Over 36 types of CALR mutations have been identified, all causing a recurrent frameshift in the C-terminal domain affecting CALR’s localisation and calcium-binding function.Objective. To screen a cohort of 89 patients suspected of having an MPN for the CALR mutations.Methods. Capillary and gel electrophoresis were used in conjunction as confirmatory tests to screen the cohort of patients.Results. Of three samples containing a type 1 CALR mutation, two were heterozygous and one homozygous for a 52-base pair deletion in CALR.Conclusions. Most studies report CALR mutations to be present only in patients with primary myelofibrosis or essential thrombocythaemia, with mutual exclusivity to JAK2 mutations. The findings of this study indicate that JAK2 and CALR mutations are no longer considered mutually exclusive. Similarly, patients with a polycythaemia vera phenotype could also carry a CALR mutation

Clinical experience with amikacin, a new aminoglycoside antibiotic

CITATION: Theron, F. P. & De Kock, M. A. 1977. Clinical experience with amikacin, a new aminoglycoside antibiotic. South African Medical Journal, 51(21):746-8.The original publication is available at http://www.samj.org.za[No abstract available]Publisher’s versio

Experimental study of the ageing of building stones exposed to sulfurous and nitric acid atmospheres

During the last few decades, due to remediation procedures, SO2 emissions in the atmosphere have decreased, unlike NOx. Air pollution has changed. Indeed, the aim of this research is to assess the effect of NOx and their interactions with SO2 on stones, particularly on limestones used in Champagne-Ardenne (France) during the restoration processes. Three French building limestones (Courville, Dom and Savonnières) and one reconstituted stone were exposed during 28 days to four strong acid atmospheres i.e. two H2SO3 solutions with different concentrations and two mixed atmospheres with different proportions of HNO3 and H2SO3. These tests produced an intensive acid attack on the stone, allowing the observation of short-term salt precipitation and the evolution of stone properties. Each day, one sample was removed from the acid atmosphere to measure the concentration of SO4(2-) and NO3(-) by ion-chromatography. The surface changes were assessed before and after the tests by 3D scanning and observations with electron microscopy. X-ray microtomography has been performed in the Centre for X-ray Tomography (UGCT) and the Department of Geology at Ghent University (Belgium) in order to observe the penetration of salts and the consequences in stones porosity. First observations showed that exposure to acid atmosphere, led to gypsum efflorescences. Obvious colour changes occurred in all tests. Salt crystallization entailed a change in the porous system, which was evidenced by 3D, mercury porosimetry and X-ray microtomography. Difference between weathered and fresh stone was highlighted by Ion chromatography analyses

The determination of phosphorus in saliva and dentine

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Synthesis of triazole-linked 2-trichloromethylquinazolines and exploration of their efficacy against P. falciparum

Using 2-trichloromethylquinazoline as scaffold, seven novel triazole-linked compounds have been synthesized using CuAAC chemistry. The in vitrobiological activity of four of the compounds on the Plasmodium falciparumchloroquine-sensitive strain NF54 was then determined. The compounds which were tested showed moderate activity with 1.45 /iM as the lowest inhibitory concentration

Gain of 20q11.21 in human pluripotent stem cells impairs TGF-β-dependent neuroectodermal commitment

Gain of 20q11.21 is one of the most common recurrent genomic aberrations in human pluripotent stem cells. Although it is known that overexpression of the antiapoptotic gene Bcl-xL confers a survival advantage to the abnormal cells, their differentiation capacity has not been fully investigated. RNA sequencing of mutant and control hESC lines, and a line transgenically overexpressing Bcl-xL, shows that overexpression of Bcl-xL is sufficient to cause most transcriptional changes induced by the gain of 20q11.21. Moreover, the differentially expressed genes in mutant and Bcl-xL overexpressing lines are enriched for genes involved in TGF-beta- and SMAD-mediated signaling, and neuron differentiation. Finally, we show that this altered signaling has a dramatic negative effect on neuroectodermal differentiation, while the cells maintain their ability to differentiate to mesendoderm derivatives. These findings stress the importance of thorough genetic testing of the lines before their use in research or the clinic

Role of Surface Morphology in Wafer Bonding

The strain patterns detected by x-ray topography in wafers bonded for silicon-on-insulator (SOI) technology were found related to the flatness nonuniformity of the original wafers. Local stresses due to the bonding process are estimated to be about 1×108 dynes/cm2. The stress is reduced about 100 times for the thin (0.5 μm) SOI films. Most of the wafer deformation occurs during room temperature mating of the wafers. The deformation is purely elastic even at 1200 °C. The magnitude of the stress appears insignificant for complimentary metal-oxide-semiconductor devices performance

Virus : buitenland kijkt al lang mee

De afgelopen eeuw is er veel onderzoek gedaan aan bloembollen. Praktische problemen werden opgelost. Nu de sector op een keerpunt staat waar het gaat om de collectieve financiering van onderzoek, is het goed om nog eens na te gaan wat het onderzoek de praktijk heeft gebracht. in deze serie staat die vraag centraal. Dit keer: onderzoek aan virussen