scholarly journals Platelet morphology

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Christoph Robier
Keyword(s):  
Platelet Count ◽  
Myeloproliferative Neoplasms ◽  
Peripheral Blood Smear ◽  
Platelet Morphology ◽  
Platelet Size ◽  
Size And Morphology ◽  
Megakaryoblastic Leukaemia ◽  
Diagnostic Work ◽  
Work Up ◽  
Current Guidelines

AbstractBackgroundThe examination of a peripheral blood smear is mandatory in case of unexplained thrombocytopenia or thrombocytosis. First, the number of platelets should be estimated in order to confirm the platelet count determined by the haematology analyser, and to rule out causes of spuriously low or elevated platelet counts. Second, the size and morphological features of the platelets, which may provide information on the underlying cause of the low or enhanced platelet count, have to be assessed.ContentThis review summarizes the physiological and pathological features of platelet size and morphology, circulating megakaryocytes, micromegakaryocytes and megakaryoblasts, and provides an overview of current guidelines on the reporting of platelet morphology.SummaryIn the diagnostic work-up of a patient with thrombocytopenia, the size of the platelets is of diagnostic relevance. Thrombocytopenia with small platelets is suggestive of a defect in platelet production, whereas the presence of large platelets is more likely to be associated with enhanced platelet turnover or hereditary thrombocytopenias. Morphological platelet abnormalities may affect the granulation and the shape and are frequently associated with abnormalities of platelet size. Platelet anomalies can be found in various haematologic disorders, such as myelodysplastic syndromes, myeloproliferative neoplasms, acute megakaryoblastic leukaemia or hereditary thrombocytopenias.

scholarly journals Platelet Phagocytosis by Neutrophils, Platelets Lack of Granules and Giant Platelets Result in Pseudothrombocytopenia

2021 ◽  
Author(s):  
Ya Zhu ◽  
Junyang Zhou ◽  
Li Sun ◽  
Feibo Guo ◽  
Yan Ding ◽  
...  
Keyword(s):  
Platelet Count ◽  
Peripheral Blood ◽  
Blood Smear ◽  
Sodium Citrate ◽  
Clinical Status ◽  
Peripheral Blood Smear ◽  
Giant Platelets ◽  
Platelet Morphology ◽  
Specific Disorders ◽  
Tuberculosis Therapy

Abstract Pseudothrombocytopenia (PTCP) is a condition in which the decreased platelet count does not agree with the clinical status of the patient, can lead to misdiagnose, unnecessary tests, unnecessary treatment. The present case describes a 73-year-old man suffered with pulmonary tuberculosis, treated with anti-tuberculosis therapy (isoniazid, rifampicin, pyrazinamide, ethambutol, 2HRZE/4HR). One month later, the patient had a significant decrease in platelets (101 to 56 x109/L). Peripheral blood smear showed that 28% platelets were phagocytosis by neutrophils, 26% platelets were lack of granules and 6% platelets’ volume increased significantly. When the anticoagulant was changed from EDTA to sodium citrate, there was no change in the above phenomenon. By manual count, the value of platelets was 113 x 109/L. After the completion of anti-tuberculosis therapy, platelet morphology gradually returned to normal. HRZE treatment may cause platelet morphology abnormal, resulting in PTCP. In such cases, we should regularly review the peripheral blood smear to ensure the accuracy of the results and avoid unnecessary examination and treatment. The emergence of PTCP may does not mean the presence of specific disorders.

In Myelodysplastic/Myeloproliferative Neoplasms Aberrant Antigen Expression As Assessed by Multiparameter Flow Cytometry Is Related to Molecular Genetic Mutations

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 5152-5152
Author(s):  
Wolfgang Kern ◽  
Susanne Schnittger ◽  
Tamara Alpermann ◽  
Claudia Haferlach ◽  
Torsten Haferlach
Keyword(s):  
Myeloproliferative Neoplasms ◽  
Molecular Genetic ◽  
Antigen Expression ◽  
Multiparameter Flow Cytometry ◽  
Employment Equity ◽  
Aberrant Expression ◽  
Equity Ownership ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Abstract Abstract 5152 Background: Immunophenotyping by multiparameter flow cytometry (MFC) is increasingly used in the diagnostic work-up of patients with cytopenias and suspected myelodysplastic syndromes (MDS). Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) comprise a group of diseases with some features of MDS and is separately classified in the current WHO system. While the immunophenotype of chronic myelomonocytic leukemia has been described in detail, data is scarce on the use of MFC in myelodysplastic/myeloproliferative neoplasms, unclassifiable (MDS/MPNu) as well as on refractory anemia with ring sideroblasts and thrombocytosis (RARS-T), which is a provisional entity in the current WHO classification. Aim: To assess patients with MDS/MPNu and RARS-T for MDS-related aberrant immunophenotypes in the context of a comprehensive diagnostic work-up including cytomorphology, cytogenetics, and molecular genetics. Patients and Methods: A total of 91 patients were analyzed in parallel by cytomorphology, cytogenetics, and MFC applying an antibody panel designed to diagnose MDS. MFC was used to detect expression of mature antigens in myeloid progenitors; abnormal CD13-CD16- and CD11b-CD16-expression patterns, aberrant expression of myeloid markers and reduced side scatter signal in granulocytes; reduced expression of myelomonocytic markers in monocytes; aberrant expression of CD71 in erythroid cells; as well as expression of lymphoid markers in all myeloid cell lines. In 77/91 patients molecular genetic markers were investigated. The median age of the patients was 75.1 years (range, 35.3–87.4). The male/female ratio was 60/31. Six patients had RARS-T and 85 had MDS/MPNu. Results: In 54/91 (59.3%) patients MFC identified an MDS-immunophenotype. This was true in 4/6 (66.7%) RARS-T and in 50/85 (58.8%) MDS/MPNu (n.s.). Cases with MDS-immunophenotype displayed aberrancies significantly more frequently than those without as follows: in myeloid progenitor cells (number of aberrantly expressed antigens, mean±SD: 0.5±0.6 vs. 0.2±0.4, p=0.002), granulocytes (2.7±1.3 vs. 1.2±1.1, p<0.001), and monocytes (1.7±1.2 vs. 0.5±0.7, p<0.001). Accordingly, there was a significant difference in the total number of aberrantly expressed antigens (4.9±2.4 vs. 2.0±1.4, p<0.001). The presence of an aberrant karyotype was not related to an MDS-immunophenotype which was observed in 11/18 (61.1%) cases with aberrant karyotype and in 43/73 (58.9%) with normal karyotype (n.s.). Mutations in RUNX1 and TET2 as well as FLT3-ITD were predominantly present in cases with an MDS-immunophenotype (10/33, 30.3%) and occurred less frequently in cases without (1/7, 9.1%, n.s.). In detail, RUNX1 mutations were present in 4/26 (10.3%) vs. 0/2, TET2 mutations were present in 4/6 (66.7%) vs. 1/2 (50%), and FLT3-ITD was present in 3/29 (10.3%) vs. 0/5. Accordingly, in cases with RUNX1 or TET2 mutations or with FLT3-ITD a significantly higher number of aberrantly expressed antigens was observed as compared to cases with none of these mutations (mean±SD, 6.4±2.0 vs. 4.4±2.5, p=0.024). In contrast, JAK2V617F mutations occurred at identical frequencies in patients with and without MDS-immunophenotype (11/38, 28.9% vs. 9/31, 29.0%). Regarding prognosis, the presence of an MDS-immunophenotype had no impact on overall survival. Conclusions: These data demonstrates that MDS-related aberrant antigen expression is present in the majority of patients with RARS-T and MDS/MPNu. While there is no association between the presence of an MDS-immunophenotype and the detection of JAK2 mutations cases with an MDS-immunophenotype tended to more frequently carry mutations in RUNX1 and TET2 as well as FLT3-ITDs. These data therefore suggests that MDS/MPNu may be subdivided based on molecular genetics and on the immunophenotype into cases with MDS-related features and those without. Further analyses are needed to validate these findings and their potential significance in RARS-T. Disclosures: Kern: MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Schnittger:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Alpermann:MLL Munich Leukemia Laboratory: Employment. Haferlach:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Haferlach:MLL Munich Leukemia Laboratory: Employment, Equity Ownership.

scholarly journals Evaluating the Use of Genetics in Brugada Syndrome Risk Stratification

2021 ◽  
Vol 8 ◽  
Author(s):  
Michelle M. Monasky ◽  
Emanuele Micaglio ◽  
Emanuela T. Locati ◽  
Carlo Pappone
Keyword(s):  
Genetic Testing ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Autosomal Dominant Disorder ◽  
Second Stage ◽  
Whole Exome ◽  
Diagnostic Work ◽  
Electrocardiogram Ecg ◽  
Work Up ◽  
Current Guidelines

The evolution of the current dogma surrounding Brugada syndrome (BrS) has led to a significant debate about the real usefulness of genetic testing in this syndrome. Since BrS is defined by a particular electrocardiogram (ECG) pattern, after ruling out certain possible causes, this disease has come to be defined more for what it is not than for what it is. Extensive research is required to understand the effects of specific individual variants, including modifiers, rather than necessarily grouping together, for example, “all SCN5A variants” when trying to determine genotype-phenotype relationships, because not all variants within a particular gene act similarly. Genetic testing, including whole exome or whole genome testing, and family segregation analysis should always be performed when possible, as this is necessary to advance our understanding of the genetics of this condition. All considered, BrS should no longer be considered a pure autosomal dominant disorder, but an oligogenic condition. Less common patterns of inheritance, such as recessive, X–linked, or mitochondrial may exist. Genetic testing, in our opinion, should not be used for diagnostic purposes. However, variants in SCN5A can have a prognostic value. Patients should be diagnosed and treated per the current guidelines, after an arrhythmologic examination, based on the presence of the specific BrS ECG pattern. The genotype characterization should come in a second stage, particularly in order to guide the familial diagnostic work-up. In families in which an SCN5A pathogenic variant is found, genetic testing could possibly contribute to the prognostic risk stratification.

Gemcitabine associated pseudocellulitis: A missed diagnosis

2017 ◽  
Vol 24 (7) ◽  
pp. 550-552 ◽  
Author(s):  
Dalvir Gill ◽  
Josh Schrader ◽  
Matthew Kelly ◽  
Fidel Martinez ◽  
Wajihuddin Syed ◽  
...  
Keyword(s):  
Antibiotic Resistance ◽  
Platelet Count ◽  
Lower Extremity ◽  
Antibiotic Exposure ◽  
Past Medical History ◽  
Missed Diagnosis ◽  
Basic Metabolic Panel ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

We report a case of a 51-year-old male with past medical history significant for cholangiocarcinoma presented with two weeks of worsening bilateral lower extremity swelling and erythema. Patient has been on active chemotherapy for his cholangiocarcinoma with Gemcitabine weekly infusions. Physical exam was significant for bilaterally petechial rash coalescing into ecchymoses over the dorsum of the feet, sparing soles and toes, which dissipated into thinning petechiae more proximally. On labs he did not have any leukocytosis, his platelet count was 50 × 103/µL and basic metabolic panel was benign. Patient was started on Vancomycin for presumed cellulitis. Lower extremity ultrasound Doppler ruled out deep venous thrombosis. Patient did have biopsies bilaterally on his legs, which showed hypersensitivity reaction consistent with the diagnosis of pseudocellulitis. His Vancomycin was discontinued and his symptoms improved. Our case further supports that pseudocellulitis is underrecognized and underreported, potentially leading to unnecessary antibiotic exposure and unnecessary diagnostic work-up as seen unfortunately in our patient. Unnecessary antibiotic exposure is increasing the risk for clostridium difficile and or antibiotic resistance, therefore awareness of this reaction is critical, as to avoid unnecessary antibiotics, and costly diagnostic workups.

A Novel, Highly Sensitive, Rapid, Non-PCR Based Method for the Detection of the JAK2 V617F Mutation in Chronic Myeloproliferative Neoplasms.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 3892-3892
Author(s):  
Giulia Minnucci ◽  
Giulia Amicarelli ◽  
Silvia Salmoiraghi ◽  
Orietta Spinelli ◽  
Daniel Adlerstein ◽  
...  
Keyword(s):  
Myeloproliferative Neoplasms ◽  
Lamp Assay ◽  
Jak2v617f Mutation ◽  
Wild Type ◽  
Molecular Monitoring ◽  
Chronic Myeloproliferative Neoplasms ◽  
Allele Specific ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Abstract Abstract 3892 Poster Board III-828 Background The point mutation G1849T (V617F) of the JAK2 gene occurs at high frequency in several Ph-negative chronic myeloproliferative neoplasms (Ph-neg-CMNs), such as Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Myelofibrosis (MF). The molecular analysis of this mutation is mandatory in the diagnostic work up of these diseases. Several molecular diagnostic techniques are currently used but each of them present some important limitations such as a low sensitivity and the requirement of labor intensive procedures performed with expensive specialized equipment that may not always be readily available in clinical laboratories. Method We have developed a non-PCR method for the identification of the JAK2V617F mutation called Allele Specific (AS)-LAMP, based on the Loop mediated isothermal AMPlification (LAMP) principle (Notomi et al. NAR 2000). LAMP reaction efficiently produces, within one hour, a large amount of amplified DNA and does not require gel separation of the amplified product which is indirectly detected by measuring the loss of intensity of a light beam through the reaction solution in which suspended particles of magnesium pyrophosphate are generated as a result of the DNA amplification process. Pyrophosphate salts produce turbidity which is both visible to the naked-eye and monitorable in Real-Time turbidimetry. AS-LAMP consists of 4 primers suitable for LAMP and a self-annealed primer highly specific for the mutated target sequence. To ensure efficiency and sensitivity a Peptide Nucleic Acid (PNA) probe specific for the wild-type allele was added thus resulting in absence of normal allele amplification within the reaction time. The AS-LAMP assay was optimized on plasmid controls and on human genomic DNA extracted from the HEL and K562 cell lines, respectively carrying or not the JAK2V617F mutation. The level of sensitivity was determined by testing serial dilutions of mutant HEL DNA in K562 DNA at concentrations of 100, 10, 1, 0.5, 0.1, 0.05, 0.01 and 0%. Results This simple, easy to perform and rapid AS-LAMP assay selectively detects the JAK2V617F mutated DNA down to 0.05%. Moreover, when mutant DNA is present in the range of 1%-100% in wild type DNA, we observed a linear relationship between the mutant allele burden and the amplification time. We have validated this AS-LAMP assay on DNA obtained from 87 patient samples previously analyzed by conventional Allele Specific PCR (ASO-PCR): 19 PV, 58 TE, 3 IMF, 1 post ET Acute Myeloid Leukemia (AML), 1 post PV and 1 post ET Myelofibrosis, 2 Idiopathic Erythrocytosis (IE) and 2 unclassified CMNs. All samples which proved positive by ASO-PCR resulted positive with our AS-LAMP assay (100% concordance). In addition, 6 ET and 1 IE previously found negative by ASO-PCR were found to be low-positive (<1%) with AS-LAMP. Interestingly, the molecular monitoring in one patient with post-PV MF achieving complete remission after allogenic transplantation, proved repeatedly negative by ASO-PCR but positive by AS-LAMP. Sequencing analysis after PCR amplification with PNA confirmed the presence of the JAK2V617F mutation in all these LAMP-low-positive samples. None of the negative controls, (1 AML, 2 Acute Lymphoblastic Leukemia, 2 Follicular Non Hodgkin's Lymphoma, 2 Chronic Lymphocytic Leukemia, and 1 healthy donor) gave false positive results. Conclusions This novel, non-PCR based allele-specific LAMP assay is rapid and reduces the risk of contamination related to post amplification manipulations. Most importantly, it is highly specific and sensitive and significantly increases our ability to detect a low JAK2V617F tumor allele burden. For all these reasons, the AS-LAMP assay can be a valid and powerful tool in the routine diagnostic work up and the molecular monitoring of these diseases. Disclosures: Minnucci: Diasorin S.p.A.: Employment. Amicarelli:Diasorin S.p.A: Employment. Salmoiraghi:Diasorin S.p.A.: Consultancy, Honoraria. Spinelli:Diasorin S.p.A: Consultancy, Honoraria. Adlerstein:Diasorin S.p.A.: Employment. Rambaldi:Diasorin S.p.A.: Consultancy, Honoraria.

Adrenal venous sampling in the diagnostic workup of primary aldosteronism

2021 ◽  
Author(s):  
Matthias Johannes Betz ◽  
Christoph Johannes Zech
Keyword(s):  
Primary Aldosteronism ◽  
Adrenal Adenoma ◽  
Secondary Hypertension ◽  
University Hospital ◽  
Bilateral Disease ◽  
Bilateral Adrenal Hyperplasia ◽  
Diagnostic Work ◽  
The University ◽  
Work Up ◽  
Current Guidelines

Primary aldosteronism (PA) is the primary cause of secondary hypertension. The prevalence of PA has probably been underestimated in the past and recent studies suggest that PA could be present in up to 10% of patients suffering from hypertension. Aldosterone excess in PA can be caused by unilateral adrenal disease, usually adrenal adenoma, or bilateral adrenal hyperplasia. Differentiation between unilateral and bilateral disease is clinically important as the former can effectively be treated by removal of the affected adrenal. CT or MRI cannot reliably distinguish unilateral from bilateral disease. Therefore, adrenal vein sampling (AVS) is an important step of the diagnostic work-up in patients with PA. Current guidelines recommend PA in virtually all patients with biochemically diagnosed PA who would undergo adrenal surgery if unilateral PA was diagnosed. In this narrative review, we give an overview of the current technique used for AVS with a focus on the experience with this technique at the University Hospital Basel, Switzerland.

Influence of Platelet Size and Morphology on Aggregation Studies

1979 ◽  
Author(s):  
S. Holme ◽  
S. Murphy
Keyword(s):  
Platelet Aggregation ◽  
Scattering Theory ◽  
Shape Change ◽  
Myeloproliferative Disease ◽  
Normal Range ◽  
Marked Influence ◽  
Reactive Thrombocytosis ◽  
Platelet Morphology ◽  
Platelet Size ◽  
Size And Morphology

Platelet aggregation with lOOuM ADP was studied in normals and patients with ITP, Myeloproliferative Disease (MPD), Reactive Thrombocytosis (RT), and Marrow Failure MF) using a Payton Aggregometer. The results were quantitated as changes in extinction (optical density) during aggregation and analyzed in terms of the platelet count, N0; mean platelet size by Coulter Counter, M; the extinction of platelets in PRP prior to aggregation, E0; and the extinction per platelet, e0 = E0/N0, e0 and M were close y correlated (r=.95 for normals, RT, and MF). Mean e0 and M were increased 1.64 and 1.81 fold respectively in ITP relative to normals. MPD with M values in the normal range commonly had lower e0 values than expected relative to H. Light scattering theory predicts that this may reflect a low platelet refractive index caused by abnormalities in internal platelet morphology. Maximal change in extinction following aggregation showed a high correlation with E0 (r=0.992) for normals and patients. The decrease in extinction at either 12.24 or 36 seconds after shape change (i.e. “the rate of aggregation”) increased relative to E0 in an exponential, not linear, fashion. The studies showed that platelet size and morphology had a marked influence on the extinction of PRP prior to aggregation and that changes in extinction following aggregation in large part were predictable from knowledge of e0 and N0 prior to aggregation. Apparent abnormalities in platelet aggregation with patients may thus reflect abnormalities in platelet size and morphology and not function.

Rapidly progressive glomerulonephritis as presenting feature of systemic lupus erythematosus in a Bangladeshi male patient: a rare case report

2020 ◽  
Vol 10 (2) ◽  
pp. 137-138
Author(s):  
Samiha Haque ◽  
Ishrat Jahan ◽  
Tufayel Ahmed Chowdhury ◽  
Muhammad Abdur Rahim ◽  
Mehruba Alam Ananna ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Venous Pressure ◽  
Rapidly Progressive Glomerulonephritis ◽  
Initial Response ◽  
Systemic Lupus ◽  
Renal Manifestation ◽  
Rare Case Report ◽  
Diagnostic Work ◽  
Work Up

Rapidly progressive glomerulonephritis is one of the most dramatic and tragic presentations of lupus nephritis (LN) or renal manifestation of systemic lupus erythematosus (SLE). A 35-year-old Bangladeshi gentleman presented with worsening oedema, scanty, high colored, frothy urine and deteriorating renal function. He had puffy face, anaemia, oedema, normal jugular venous pressure (JVP), high blood pressure (150/90 mm Hg), ascites and bilateral pleural effusions. Diagnostic work-up confirmed SLE with class IV LN. His initial response to specific therapy showed improvement Birdem Med J 2020; 10(2): 137-138

Immune Thrombocytopenia in an Adolescent with Hashimoto’s Thyroiditis – Case Report

2019 ◽  
Vol 4 (3) ◽  
pp. 145-149 ◽  
Author(s):  
Izabella Kelemen ◽  
Zsuzsanna Erzsébet Papp ◽  
Mária Adrienne Horváth
Keyword(s):  
Platelet Count ◽  
Autoimmune Diseases ◽  
Hashimoto’S Thyroiditis ◽  
Clinical Signs ◽  
Immunoglobulin Therapy ◽  
Peripheral Blood Smear ◽  
Bleeding Complications ◽  
Hashimoto's Thyroiditis ◽  
Line Treatment ◽  
First Line

Abstract Introduction: In childhood, thrombocytopenia caused by transient antibody-mediated thrombocyte destruction is most frequently diagnosed as immune thrombocytopenic purpura (ITP). We report the case of a girl with ITP associated with autoimmune thyroiditis. Case presentation: A 11-year-old female patient with Hashimoto’s thyroiditis presented with clinical signs of petechiae and ecchymoses on the extremities. Laboratory tests showed remarkable thrombocytopenia with a platelet count of 44,500/μL, hence she was referred to a hematologic consultation. The peripheral blood smear showed normal size platelets in very low range. The bone marrow examination exposed hyperplasia of the megakaryocyte series with outwardly morphologic abnormalities. The patient was diagnosed with ITP, and her first-line treatment was pulsed steroid and immunoglobulin therapy. The thrombocytopenia was refractory to these first-line medications. After 6 months of corticotherapy and a period of severe menorrhagia, azathioprine immunosupression was initiated as a second-line treatment. Her platelet count rapidly increased, and the evolution was good, without bleeding complications. Conclusion: In case of a medical history of autoimmune diseases and treatment-resistant ITP, attention must be focused on detecting coexisting autoimmune diseases and adjusting the treatment in accordance with the chronic evolution of the disease.

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