Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal blood sample

1989 ◽  
Vol 9 (6) ◽  
pp. 433-437 ◽  
Author(s):  
Harriet von Koskull ◽  
Annukka Ritvanen ◽  
Pirkko Ämmälä ◽  
Nina Gahmberg ◽  
Riitta Salonen
2003 ◽  
Vol 23 (sup1) ◽  
pp. S67-S67
Author(s):  
T. Walsh ◽  
M. O'Connell ◽  
M. O'Leary ◽  
Catherine Mcquillan ◽  
C. O'Herlhy ◽  
...  

1999 ◽  
Vol 19 (03) ◽  
pp. 134-138
Author(s):  
Gitta Kühnel ◽  
A. C. Matzdorff

SummaryWe studied the effect of GPIIb/IIIa-inhibitors on platelet activation with flow cytometry in vitro. Citrated whole blood was incubated with increasing concentrations of three different GPIIb/IIIa-inhibitors (c7E3, DMP728, XJ757), then thrombin or ADP were added and after 1 min the sample was fixed. Samples without c7E3 but with 0.1 U/ml thrombin had a decrease in platelet count. Samples with increasing concentrations of c7E3 had a lesser or no decrease in platelet count. The two other inhibitors (DMP 725, XJ757) gave similar results. GPIIb/IIIa-inhibitors prevent aggregate formation and more single platelets remain in the blood sample. The agonist-induced decrease in platelet count correlates closely with the concentration of the GPIIb/IIIa inhibitor and receptor occupancy. This correlation may be used as a simple measure for inhibitor activity in whole blood.


Author(s):  
TL Botasheva ◽  
TA Zamanskaya ◽  
AV Orlov ◽  
SN Norits

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 222-OR
Author(s):  
PIOTR J. BACHUL ◽  
JUSTYNA E. GOLEBIEWSKA ◽  
FILIP ANTIC ◽  
MONICA PARA ◽  
LINDSAY BASTO ◽  
...  

2018 ◽  
Vol 40 (4) ◽  
pp. 261-267 ◽  
Author(s):  
K Tari ◽  
Z Shamsi ◽  
H Reza Ghafari ◽  
A Atashi ◽  
M Shahjahani ◽  
...  

Chronic lymphocytic leukemia (CLL) is increased proliferation of B-cells with peripheral blood and bone marrow involvement, which is usually observed in older people. Genetic mutations, epigenetic changes and miRs play a role in CLL pathogenesis. Del 11q, del l17q, del 6q, trisomy 12, p53 and IgVH mutations are the most important genetic changes in CLL. Deletion of miR-15a and miR-16a can increase bcl2 gene expression, miR-29 and miR-181 deletions decrease the expression of TCL1, and miR-146a deletion prevents tumor metastasis. Epigenetic changes such as hypo- and hypermethylation, ubiquitination, hypo- and hyperacetylation of gene promoters involved in CLL pathogenesis can also play a role in CLL. Expression of CD38 and ZAP70, presence or absence of mutation in IgVH and P53 mutation are among the factors involved in CLL prognosis. Use of monoclonal antibodies against surface markers of B-cells like anti-CD20 as well as tyrosine kinase inhibitors are the most important therapeutic approaches for CLL.


2020 ◽  
Vol 71 (8) ◽  
pp. 240-248
Author(s):  
Kafeel Ahmad ◽  
Yongjun Yang ◽  
Zafar Iqbal Khan ◽  
Nimra Arshad ◽  
Tasneem Ahmad ◽  
...  

The article is focused on estimation of Zinc in the roadside forages, and blood of buffaloes feeding on these forages. This study was carried out in Sargodha during December 2015 to January 2016 (winter) and May 2016 to June 2016 (summer). Five road sites (Mateela, Faisalabad roadside, Shaheenabad roadside, Bhalwal roadside and 50 chak) were selected from sampling of forages, soil and buffalo blood sample. Heavy metal analysis of all digested samples was done with atomic absorption spectrophotometer. Analysis of variance and correlation was done with two way ANOVA. This study regarding the accumulation of zinc in forages, soil and the buffalo blood would help the authorities to exactly determine the agents which are responsible for increasing pollution in the environment.


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