scholarly journals Acute Myeloproliferative Disease

2012 ◽  
pp. 201-217
Keyword(s):  
Myeloproliferative Disease

scholarly journals Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Ya-Bing Wang ◽  
Ou Wang ◽  
Min Nie ◽  
Yan Jiang ◽  
Mei Li ◽  
...  
Keyword(s):  
Case Series ◽  
Pure Red Cell Aplasia ◽  
Hereditary Disease ◽  
Chinese Patients ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Myeloproliferative Disease ◽  
College Hospital ◽  
Autoimmune Polyendocrine Syndrome

Abstract Background Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and this study aims to describe the phenotypes and genetic characterization in Chinese APS1 patients. In this single-center, retrospective, observational study, comprehensive endocrine and extra-endocrine manifestations were collected, and genetic analysis in AIRE was conducted in patients with APS1 between the years of 1984 and 2018 at Peking Union Medical College Hospital. Results In total, 13 patients from 12 unrelated families were enrolled, seven of whom were female, with hypoparathyroidism, chronic mucocutaneous candidiasis, and Addison’s disease being the most frequently observed manifestations. Up to 84.7% presented with two or three of the above-mentioned manifestations, and nearly 4.9 ± 1.8 components presented in patients aged 21.2 ± 7.9 years old. Several less common phenotypes, such as myeloproliferative disease, pure red cell aplasia, renal tubular acidosis, asplenia, autoimmune hepatitis, and ankylosing spondylitis, were also observed in patients. Altogether, seven different AIRE mutations were found in six patients, four of which (K161fs, G208V, A246fs, and L308F) had not been previously reported in patients with APS1. Conclusion We have provided a comprehensive profile of Chinese patients with APS1, with less commonly observed features being observed in addition to more regularly seen manifestations. Additionally, different AIRE mutations that were observed have expanded the genetic spectrum, which will help with future understanding of the molecular pathogenesis of APS1.

scholarly journals T cell-independent antibody-mediated clearance of polyoma virus in T cell-deficient mice.

1996 ◽  
Vol 183 (2) ◽  
pp. 403-411 ◽  
Author(s):  
E Szomolanyi-Tsuda ◽  
R M Welsh
Keyword(s):  
T Cells ◽  
T Cell ◽  
B Cells ◽  
Nude Mice ◽  
Knockout Mice ◽  
Cell Receptor ◽  
Genetically Engineered ◽  
Scid Mice ◽  
Myeloproliferative Disease ◽  
Alpha Beta

Polyomavirus (PyV) infection of SCID mice, which lack functional T and B cells, leads to a lethal acute myeloproliferative disease (AMD) and to high levels of virus replication in several organs by two wk after infection. This is in contrast to infection of T cell-deficient athymic nude mice, which are resistant to acute PyV-induced disease and poorly replicate the virus in their organs. This major difference in the virus load and in the outcome of PyV infection between SCID and nude mice suggested that an efficient, T cell-independent antiviral mechanism operates in T cell-deficient, PyV infected mice. To investigate this possibility, mice with different genetically engineered T and/or B cell deficiencies and SCID mice adoptively reconstituted with B and/or T cells were infected with PyV. The results indicated that the presence of B cells in the absence of T cells protected mice from the AMD, and this was accompanied by a major reduction of PyV in all organs tested. Sera from PyV-infected T cell receptor (TCR) alpha beta knockout or TCR alpha beta gamma delta knockout mice contained IgG2a antibodies to PyV. Sera or purified immunoglobulin fractions from PyV-infected TCR alpha beta knockout mice protected SCID mice from the PyV-induced AMD. To our knowledge, this is the first report of an effective T cell-independent antibody response clearing a virus and changing the outcome of infection from 100% mortality to 100% survival.

scholarly journals Portal vein thrombosis in myeloproliferative disease. Uses of thrombolytic and antiplatelet treatment.

BMJ ◽  
1990 ◽  
Vol 300 (6724) ◽  
pp. 590-592 ◽  
Author(s):  
H Fidler ◽  
A Booth ◽  
H J Hodgson ◽  
J Calam ◽  
L Luzatto ◽  
...  
Keyword(s):  
Portal Vein ◽  
Portal Vein Thrombosis ◽  
Myeloproliferative Disease ◽  
Antiplatelet Treatment ◽  
Vein Thrombosis

scholarly journals DNMT3A Haploinsufficiency Transforms FLT3ITD Myeloproliferative Disease into a Rapid, Spontaneous, and Fully Penetrant Acute Myeloid Leukemia

2016 ◽  
Vol 6 (5) ◽  
pp. 501-515 ◽  
Author(s):  
Sara E. Meyer ◽  
Tingting Qin ◽  
David E. Muench ◽  
Kohei Masuda ◽  
Meenakshi Venkatasubramanian ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Myeloproliferative Disease ◽  
Acute Myeloid

Hemostatic Disorders and Platelet Nucleotide Release in Myeloproliferative Disease

1979 ◽  
Author(s):  
A.B. Hagedorn ◽  
E.J.W. Bowie ◽  
C.A. Owen
Keyword(s):  
Platelet Aggregation ◽  
Postoperative Bleeding ◽  
Myeloproliferative Disorders ◽  
Myeloproliferative Disease ◽  
Myeloid Metaplasia ◽  
Normal Platelet ◽  
Agnogenic Myeloid Metaplasia ◽  
Nucleotide Release ◽  
The One ◽  
Hemostatic Disorders

Since patients with myeloproliferative disorders may have bleeding tendencies, the surgeon, in particular, is anxious for an hemostatic evaluation if splenectomy is contemplated. It is known that platelet aggregation, particularly with epinephrine, tends to be reduced in these patients. The nucleotide content of their platelets may be deficient. Furthermore, megakaryocytic fine structure is often abnormal. We have studied, In detail, 9 patients with hemostatic disorders. Diagnoses included polycythemia vera, agnogenic myeloid metaplasia, evolving myeloproliferative disease and erythroleukemia. Ages ranged from 36 to 75 years. Bleeding tendencies, including bruising, operative or postoperative bleeding, melena, hematuria, and hemarthrosis, characterized 8 of the 9 patients; the one exception had normal platelet ADP and elevated ATP. All had abnormal platelet aggregation, but the extent of the abnormality could not be related to the ADP and ATP contents of the platelet.ADP (normal 26.7 ± 6.5 nmol/109 platelets) was reduced in 7. ATP (normal 38.6 ± 7.6 nmol/109 platelets) was reduced in 1, elevated in 2 and normal in the other 6. In no patient were both values normal. Nucleotide release induced by collagen activation was measured in 6 of the patients. In all 6 it was deficient whether platelet ADP were normal (1 case) or depressed (5) and whether platelet ADP were elevated (1) or decreased (3).

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