Erythrocyte and platelet proteomics in hematological disorders

2016 ◽  
Vol 10 (4) ◽  
pp. 403-414 ◽  
Author(s):  
Abhijit Chakrabarti ◽  
Suchismita Halder ◽  
Shilpita Karmakar
Keyword(s):  
Hematological Disorders ◽  
Platelet Proteomics

Autoantibodies to Phospholipids and to the Coagulation Proteins in AIDS

1997 ◽  
Vol 77 (05) ◽  
pp. 0856-0861 ◽  
Author(s):  
N Abuaf ◽  
S Laperche ◽  
B Rajoely ◽  
R Carsique ◽  
A Deschamps ◽  
...  
Keyword(s):  
Lupus Erythematosus ◽  
Antiphospholipid Antibodies ◽  
Blood Donors ◽  
Heterogeneous Mixture ◽  
Systemic Lupus ◽  
Hematological Disorders ◽  
False Positive Test ◽  
Glycoprotein I ◽  
Coagulation Proteins ◽  
Hiv 1

SummaryIn HIV-1 infection, an increased prevalence of anticardiolipin autoantibodies (aCL) and lupus anticoagulant (LA) has been described. In order to see if these antibodies are isolated or, like in autoimmune diseases, associated with hematological disorders and with antibodies to other phospholipids and to proteins of coagulation, we investigated 3 groups of patients: 1. 342 HIV-1 infected patients, 2. 145 control patients including 61 systemic lupus erythematosus (SLE) patients, 58 patients with a connective tissue disease, 15 patients with stroke, 11 patients with syphilis and 3.100 blood donors. In HIV-1 infection antiprothrombin (aPrT) antibodies were present in 25% of patients, the prevalence of antiphosphatidylcholine antibodies (aPC) (50%) was almost as high as aCL (64%), and 39% had both antibodies. Absorption on liposomes of the latter revealed an heterogeneous mixture of aCL and aPC or cross-reacting antibodies. In contrast with SLE, anti-β2-glycoprotein I (4%), LA (1%), biological false positive test for syphilis (0.3%), thrombosis (p <0.001) were uncommon. In HIV-1 infection, antiphospholipid antibodies do not associate with features linked to them in SLE or syphilis.

Erythrocyte and reticulocyte parameters during biological monitoring of lead exposure to the body

2020 ◽  
Vol 60 (11) ◽  
pp. 873-876
Author(s):  
Anastasiya G. Khotuleva ◽  
Mariya S. Kozyreva
Keyword(s):  
Biological Monitoring ◽  
Hematological Parameters ◽  
Lead Level ◽  
Statistical Processing ◽  
Absorption Spectrometry ◽  
The Body ◽  
Control Group ◽  
Processing Plant ◽  
Hematological Disorders ◽  
Globin Synthesis

Introduction. The most susceptible to lead is the hematopoietic system of hematopoietic organs due to lead inhibition of heme and globin synthesis and cytotoxic effect on the membrane of Mature red blood cells. The aim of study was to evaluate the informative value of the study of erythrocyte and reticulocyte parameters determined on modern hematological analyzers in patients working in contact with lead during medical and biological monitoring. Materials and methods. 45 employees of the lead battery processing plant and 30 persons of control group were examined. The level of lead in the blood was determined by atomic absorption spectrometry, δ-ALA in the urine-by the reaction of pyrol formation with acetylacetone in terms of gram of creatinine, the study of hematological parameters was performed on a Sysmex HT-2000i analyzer. Statistical processing of the results was performed using the program STATISTICA 10.0. Results. Significant changes in erythrocytic (RDW) and reticulocytic (RET, IRF, LFR, MFR, HFR, RET-He) parameters, erythropoietin in workers in contact with lead compared to the control group, changes in MCV, MCH, RDW, RET indicators in the group working in dynamics after 2 years were revealed. Associations of hematological parameters with biomarkers of exposure and effect (lead level in blood and ALA in urine) were revealed. Conclusions. Assessment of erythrocyte (MCV, MCH, RDW) and reticulocyte parameters (RET% and their distribution by maturity) in dynamics during periodic medical examinations of workers in contact with lead allows us to detect the development of hematological disorders at early stages.

Genome editing using CRISPR/Cas9 to treat hereditary hematological disorders

Gene Therapy ◽  
2021 ◽  
Author(s):  
Yan Chen ◽  
Ruiting Wen ◽  
Zhigang Yang ◽  
Zhanghui Chen
Keyword(s):  
Genome Editing ◽  
Hematological Disorders

scholarly journals A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ahalyaa Sivashangar ◽  
Lallindra Gooneratne ◽  
Barnaby Clark ◽  
David Rees ◽  
Saroj Jayasinghe ◽  
...  
Keyword(s):  
Case Report ◽  
Pyruvate Kinase ◽  
Genetic Variant ◽  
Asian Population ◽  
Pathogenic Variant ◽  
Sri Lankan ◽  
Recessive Trait ◽  
Case Presentation ◽  
Pyruvate Kinase Deficiency ◽  
Hematological Disorders

Abstract Background Erythrocyte pyruvate kinase is expressed under the control of the PKLR gene located on chromosome 1q21. Pyruvate kinase catalyzes the final steps of the glycolytic pathway and creates 50% of the red cell total adenosine triphosphate. Pyruvate kinase deficiency is the commonest glycolytic defect causing congenital non-spherocytic hemolytic anemia inherited in an autosomal recessive trait in which homozygotes and compound heterozygotes are common. Over 200 mutations have been described in patients with pyruvate kinase deficiency. This case report identifies a new pathogenic variant in PKLR gene detected in a patient with severe pyruvate kinase deficiency. Case presentation A Sri Lankan Sinhalese girl who developed neonatal anemia and jaundice within 24 hours of birth with mild hepatomegaly. She was from a nonconsanguineous marriage and had two siblings who had no hematological disorders. She had repeated admissions due to similar illnesses and at the age of 8 years was found to have pyruvate kinase deficiency associated with a novel homozygous pathogenic variant c.507+1delG in the PKLR gene. Conclusions A novel genetic variant in PKLR gene, consistent with pyruvate kinase deficiency, was detected in a Sri Lankan girl. This genetic variant may be specific to the Asian population and requires further studies.

Lactotransferrin-Related Breast Amyloidosis: Report of a First Case

2021 ◽  
pp. 106689692110160
Author(s):  
Mingfei Yan ◽  
Mark Rodgers ◽  
Aparna Harbhajanka ◽  
Hannah Gilmore
Keyword(s):  
Breast Lesion ◽  
Hematologic Malignancy ◽  
Genetic Disorders ◽  
Rare Condition ◽  
Myoepithelial Cells ◽  
Hematological Disorders ◽  
First Case ◽  
Benign Nature ◽  
Extensive Involvement

Breast amyloidosis is a rare condition which is mostly associated with hematological disorders or hereditary genetic disorders. Imaging findings of breast amyloidosis can mimic malignancy, which often leads to biopsy or excision of the lesion. Here, we presented a case of localized lactotransferrin-related breast amyloidosis in an elderly female patient. Histologic examination revealed extensive involvement of breast lobules by amorphous amyloid materials, with attenuation of lobular structures and prominent calcifications. Positive immunostains for myoepithelial cells helped to exclude the possibility of invasive carcinoma. The patient had no hematologic malignancy besides immunoglobulin G lambda monoclonal gammopathy of undetermined significance. Mass spectrometry of the breast amyloid identified lactotransferrin and no immunoglobulin or its light chain. On follow-up, the patient showed no recurrence of the breast lesion after local excision nor showed other systematic comorbidities, indicating the benign nature of the lesion. This first report of lactotransferrin-related amyloidosis may represent a special type of localized breast amyloidosis that has no correlation with systematic disorders.

scholarly journals Management of chronic patients during the COVID-19 pandemic: the experience of a referral center for rare hematological disorders in the hardest-hit region in Italy

2021 ◽  
Author(s):  
Irene Motta ◽  
Alessia Marcon ◽  
Maria Domenica Carrabba ◽  
Elena Cassinerio ◽  
Margherita Migone De Amicis ◽  
...  
Keyword(s):  
Chronic Patients ◽  
Hematological Disorders ◽  
Referral Center

scholarly journals Immune-Related Pancytopenia Induced by Anti-PD-1 Therapy – Interrupt or Continue Treatment – The Role of Immunohistochemical Examination

2019 ◽  
Vol 12 (3) ◽  
pp. 820-828 ◽  
Author(s):  
Bożena Cybulska-Stopa ◽  
Andrzej Gruchała ◽  
Maciej Niemiec
Keyword(s):  
Bone Marrow ◽  
Cytotoxic T Lymphocyte ◽  
Checkpoint Inhibitors ◽  
Death Receptor ◽  
Positive Outcomes ◽  
Hematological Disorders ◽  
Therapeutic Outcomes ◽  
Appropriate Treatment ◽  
Programmed Death

Immune checkpoint inhibitors (ICIs), including anti-cytotoxic T-lymphocyte antigen 4 (anti-CTLA-4) and anti-programmed death receptor-1/ligand-1 (anti-PD-1/anti-PD-L1) caused a breakthrough in oncology and significantly improved therapeutic outcomes in cancer patients. ICIs generate a specific reaction in T cells, directed against antigens on cancer cells, leading to their damage and death. Through similar or the same antigens, activated lymphocytes may also have a cytotoxic effect on healthy cells, causing development of specific adverse effects – so-called immune-related adverse events (irAEs). We present the case report of a 56 year old patient with disseminated melanoma. During treatment with immunotherapy (anti PD-1), neutropenic fever and pancytopenia occurred. Trepanobiopsy of the bone marrow was performed to determine the cause of pancytopenia. Histopathological assessment of bone marrow combined with immunophenotype investigations may explain the cause of hematological disorders occurring in the course of treatment with ICIs, and support the choice of an appropriate treatment, directly translated into positive outcomes.

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