Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

The issues of using of information and measurement systems based on processing of digital images of microscopic preparations for solving large-scale tasks of automating the diagnosis of acute leukemia are considered. The high density of leukocyte cells in the preparation (hypercellularity) is a feature of microscopic images of bone marrow preparations. It causes the proximity of cells to eachother and their contact with the formation of conglomerates. Measuring of the characteristics of bone marrow cells in such conditions leads to unacceptable errors (more than 50%). The work is devoted to segmentation of contiguous cells in images of bone marrow preparations. A method of cell separation during white blood cell segmentation on images of bone marrow preparations under conditions of hypercellularity of the preparation has been developed. The peculiarity of the proposed method is the use of an approach to segmentation of cell images based on the watershed method with markers. Key stages of the method: the formation of initial markers and builds the lines of watershed, a threshold binarization, shading inside the outline. The parameters of the separation of contiguous cells are determined. The experiment confirmed the effectiveness of the proposed method. The relative segmentation error was 5 %. The use of the proposed method in information and measurement systems of computer microscopy for automated analysis of bone marrow preparations will help to improve the accuracy of diagnosis of acute leukemia.

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Two Variants in the NOTCH4 and HLA-C Genes Contribute to Familial Clustering of Psoriasis

International Journal of Genomics ◽

10.1155/2020/6907378 ◽

2020 ◽

Vol 2020 ◽

pp. 1-9

Author(s):

Minglong Cai ◽

He Huang ◽

Zhulin Hu ◽

Tao Yuan ◽

Weiran Li ◽

...

Keyword(s):

Association Analysis ◽

Genetic Predisposition ◽

Genetic Architecture ◽

Large Scale ◽

Complex Phenotypes ◽

Histocompatibility Complex ◽

Immune Mediated ◽

The Family ◽

Familial Clustering ◽

Family Aggregation

Psoriasis is a multifactorial immune-mediated skin disease with a strong genetic background. Previous studies reported that psoriasis with a family history (PFH) and sporadic psoriasis (SP) have a distinct manifestation and genetic predisposition. However, the genetic heterogeneity of PFH and SP in the major histocompatibility complex (MHC) region has not been fully elucidated. To explore genetic variants in the MHC region that drive family aggregation of psoriasis, we included a total of 8,127 psoriasis cases and 9,906 healthy controls from Han Chinese and divided psoriasis into two subtypes, PFH ( n = 1,538 ) and SP ( n = 5,262 ). Then, we calculated the heritability of PFH and SP and performed a large-scale stratified association analysis. We confirmed that variants in the MHC region collectively explained a higher heritability of PFH (16.8%) than SP (13.3%). Further stratified association analysis illustrated that HLA-C ∗ 06:02 and NOTCH4:G511S contribute to the family aggregation of psoriasis, and BTNL2:R281K specifically confers risk for SP. HLA-C ∗ 06:02 and NOTCH4:G511S could partially explain why patients with PFH have a stronger genetic predisposition, more complex phenotypes, and more frequent other autoimmune diseases. The identification of the SP-specific variant BTNL2:R281K revealed that the genetic architecture of SP is not just a subset of PFH.

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P2212 A comparative study of white blood cell count, neopterin and C-reactive protein for prediction of stenosis complexity in patients with non-ST-segement elevation acute coronary syndromes

European Heart Journal ◽

10.1016/s0195-668x(03)95206-7 ◽

2003 ◽

Vol 24 (5) ◽

pp. 420

Author(s):

P AVANZAS

Keyword(s):

Blood Cell ◽

Comparative Study ◽

Cell Count ◽

White Blood Cell Count ◽

White Blood Cell ◽

Acute Coronary Syndromes ◽

C Reactive Protein ◽

Blood Cell Count ◽

Reactive Protein ◽

Coronary Syndromes

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An Alternative Elastase-mediated Degradation of Fibrinogen and Fibrin Observed in a Patient with Herpes Simplex Encephalitis and Pneumonia

Thrombosis and Haemostasis ◽

10.1055/s-0038-1650550 ◽

1996 ◽

Vol 76 (02) ◽

pp. 184-186 ◽

Cited By ~ 2

Author(s):

Kenji lijima ◽

Fumiyo Murakami ◽

Yasushi Horie ◽

Katsumi Nakamura ◽

Shiro Ikawa ◽

...

Keyword(s):

Herpes Simplex ◽

Blood Cell ◽

White Blood Cell ◽

Herpes Simplex Encephalitis ◽

Pmn Elastase ◽

Cell Counts ◽

Blood Cell Counts ◽

Sds Page ◽

White Blood Cell Counts ◽

Pmn Élastase

SummaryA 74-year-old female developed pneumonia following herpes simplex encephalitis. Her white blood cell counts reached 28,400/μl, about 90% of which consisted of granulocytes. The polymorphonuclear (PMN) elastase/α1-arantitrypsin complex levels increased and reached the maximum of 5,019 ng/ml, indicating the release of a large amount of elastase derived from the granulocytes. The mechanism of PMN elastase release was most likely to be granulocyte destruction associated with phagocytosis. The cleavage of fibrinogen and fibrin by PMN elastase, independent of plasmin, was indicated by the presence of the fragments in immunoprecipitated plasma from the patient corresponding to elastase-induced FDP D and DD fragments and the absence of fragments corresponding to plasmin-induced FDP D and DD fragments on SDS-PAGE. These findings suggested that the large amount of PMN elastase released from the excessive numbers of granulocytes in this patient with herpes simplex encephalitis and pneumonia, induced the cleavage of fibrinogen and fibrin without the participation of plasmin.

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