Diagnostic techniques in the assessment of haematological malignancies

2020 ◽  
pp. 5181-5188
Author(s):  
Wendy N. Erber
Keyword(s):  
Bone Marrow ◽  
Blood Count ◽  
Molecular Genetic ◽  
Diagnostic Techniques ◽  
Blood Film ◽  
Clinical Samples ◽  
Clinical Relapse ◽  
Haematological Malignancies ◽  
Prognostic Prediction ◽  
Detection Of Mutations

The diagnosis of haematological malignancies requires an understanding of the diseases and the uses and limitations of the range of available investigations. The relative importance of different investigations varies by disease entity. The blood count is one of the most widely used tests in all of medicine and often the first indication of an underlying haematological malignancy. Some blood count features are ‘diagnostic’ and others may give an indication of a bone marrow defect. Morphological assessment of a stained blood film adds value to an abnormal blood count. It may identify abnormal morphology of red cells, leucocytes, or platelets which may be specific and diagnostic, or give clues suggesting a diagnosis. Bone marrow aspirate (liquid sample) gives cytological detail, and trephine biopsy provides information about marrow cellularity, architecture, cellular distribution, and extent of fibrosis. Immunophenotyping detects cellular antigens in clinical samples and is essential in the diagnosis and classification of haematological malignancies. It is also used for disease staging and monitoring, to detect surrogate markers of genetic aberrations, identify potential immunotherapeutic targets, and to aid prognostic prediction. Cytogenetics assesses the number and structure of whole chromosomes and chromosomal regions in neoplastic cells and is performed to diagnose and classify some haematological malignancies. Molecular genetic methods facilitate the detection of mutations, rearrangements, or translocations in genes. Applications in malignant haematology include confirming clonality, detecting disease-associated genotypes, determining prognosis, disease monitoring following therapy, predicting imminent clinical relapse, and identifying patients who are likely (or not) to respond to new targeted inhibitor therapies.

Introduction to haematology

2020 ◽  
pp. 5169-5171
Author(s):  
Chris Hatton
Keyword(s):  
Bone Marrow ◽  
Weight Loss ◽  
Diagnostic Tests ◽  
Blood Count ◽  
Modern Medicine ◽  
Blood Film ◽  
Full Blood Count ◽  
Cellular Infiltration ◽  
Haematological Disorder ◽  
History Of

Haematology is the study of the composition, function, and diseases of the blood. The approach to a patient suspected of having a haematological disorder begins with taking a history (particularly noting fatigue, weight loss, fever, and history of bleeding) and performing a clinical examination (looking for signs of anaemia, infection, bleeding, and signs of cellular infiltration causing splenomegaly and/or lymphadenopathy). Key investigations include a full blood count, a blood film, and (in selected cases) examination of the bone marrow. Further diagnostic tests now routinely performed on blood and marrow samples include immunophenotyping and cytogenetic and molecular analysis. Mutational signatures may be diagnostically useful and potentially define treatment, keeping haematology in the vanguard of advances in modern medicine.

scholarly journals Prevalence of Bacterial Infections and the use of Multiplex Pcr Assay for Rapid Detection in Cultured Fish in Ghana.

2021 ◽  
Author(s):  
Rhoda Lims Diyie ◽  
Dennis W. Aheto ◽  
Mike Y. Osei-Atweneboana ◽  
Emmanuel Armah ◽  
Kobina Yankson
Keyword(s):  
Bacterial Infections ◽  
Molecular Genetic ◽  
Diagnostic Techniques ◽  
Infected Fish ◽  
Molecular Diagnostic ◽  
Clinical Samples ◽  
Molecular Diagnostic Techniques ◽  
Stressed Condition ◽  
Multiplex Pcr Assay ◽  
Cultured Fish

Abstract The modern and rapid avenue for detecting pathogens provided by molecular genetic techniques including polymerase chain reaction (PCR) was explored in the present study to identify prevalent disease pathogens, from six aquaculture farms and in two commonly cultured fish in Ghana. The specific detection was carried out directly on clinical samples of naturally infected fish (O. niloticus and C. gariepinus) based on syber-mix reaction protocol in traditional PCR. Molecular diagnostic techniques allowed the detection of six most common and important bacteria pathogens in aquaculture farms in Ghana. Also, three of the pathogens (Streptococcus agalactiae, Streptococcus iniae and Staphylococcus aureus) were simultaneously isolated in a multiplex reaction. The results indicated 90% - 100% sensitivity and specificity for each of the six bacterial pathogens tested. Streptococcosis and motile aeromonad septicemia were found to be highly prevalent in most aquaculture farms in Ghana with severity in infections traced to the 85.7% and 14.9% co-infections with all six target pathogens in catfish and tilapia respectively. Prevalence rate of infections significantly correlated with variations in salinity, conductivity and dissolved oxygen concentrations in the thermal stressed condition of the culture water.

Diagnosis and investigation in haematology

2018 ◽  
Author(s):  
Chris Bunch
Keyword(s):  
Bone Marrow ◽  
Blood Count ◽  
Iliac Crest ◽  
Bone Marrow Examination ◽  
Needle Aspiration ◽  
Blood Film ◽  
Full Blood Count ◽  
Clinical Context ◽  
Posterior Iliac Crest ◽  
Haematological Disorders

This chapter addresses the interpretation of the full blood count, blood film, bone marrow examination, and related tests in the diagnosis of haematological disorders. Examination of a stained blood film, which should always be requested if a blood count abnormality cannot readily be explained by the clinical context, may give clues to the cause of the abnormality or prove diagnostic. Examination of the bone marrow is essential to the proper evaluation and diagnosis of many haematological disorders. The simplest form of marrow examination involves needle aspiration of marrow cells from the posterior iliac crest; smears are made and stained in the same way as a blood film. Bone marrow can also be biopsied for histological examination, at the same time as marrow aspiration.

scholarly journals Analysis of Full Blood Count and Bone Marrow Aspirations at Presentation in Children Diagnosed with Acute Leukaemias – A Single Centre Experience in Southern Nigeria

2021 ◽  
pp. 1-8
Author(s):  
G. K. Eke ◽  
K. I. Korubo
Keyword(s):  
Bone Marrow ◽  
Acute Lymphoblastic Leukaemia ◽  
Teaching Hospital ◽  
Lymphoblastic Leukaemia ◽  
Blood Count ◽  
Paediatric Oncology ◽  
Blood Film ◽  
Full Blood Count ◽  
Malignant Neoplasms ◽  
Southern Nigeria

Introduction: Acute leukaemias are the most common malignant neoplasms in childhood, presenting with a variety of nonspecific symptoms. Though many of the recent more sophisticated methods of diagnosis have important prognostic implications, they are often not available in low- and middle-income countries. Objective: To review the full blood count and bone marrow aspirations at presentation in children diagnosed with acute leukaemias at a teaching hospital in southern Nigeria. Methodology: A retrospective survey of children with acute leukaemias admitted into the Paediatric Oncology unit of the University of Port Harcourt Teaching Hospital (UPTH), from January 2014 to December 2020. Their clinical profile, full blood count and bone marrow aspirations were analyzed using SPSS version 25.0 Results: Forty-three children aged 8 months to 17 years, with a median age of 9 years, were diagnosed with acute leukaemia within the period under review, 28 (65.1%) were males and 15 (34.9%) females, giving a M:F ratio of 1.9:1. Commonest clinical features at presentation were fever (n=28, 65.1%), pallor (n=18, 41.9%) and gum bleeding (n=16, 37.2%); while 38 (88.4%) of them presented with anaemia, 20 (46.5%) had leukocytosis and 36 (83.7%) had thrombocytopoenia with a median platelet count of 42x109/L and circulating blasts were present in the peripheral blood film of most of the patients. Acute lymphoblastic leukaemia (ALL) was the diagnosis in 30 (70%) children, and AML in 9 (21%). The bone marrow was hypercellular in 30 cases (69.8%) and erythropoiesis was depressed in 39 (90.7%) children. Conclusion: At the UPTH, children with acute leukaemias were mostly males. Fever, pallor and gum bleeding were the commonest symptoms with most of them having circulating blasts. Acute lymphoblastic leukaemia was the commonest type and bone marrow was mainly hypercellular with depressed erythropoiesis.

scholarly journals Molecular genetic test system for diagnosis of x-linked agammaglobulinemia

2018 ◽  
Vol 23 ◽  
pp. 186-191
Author(s):  
M. V. Dybkov ◽  
Yu. S. Stepanovskyy ◽  
L. I. Chernyhova ◽  
A. P. Volokha ◽  
A. M. Hilfanova ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Molecular Genetic ◽  
Rna Extraction ◽  
Test System ◽  
Clinical Samples ◽  
Initial Screening ◽  
Rt Pcr ◽  
Detection Of Mutations

Aim. Primary immunodeficiencies are disorders in which immune system is missing or does not function normally due to genetic disorders. X-linked agammaglobulinemia (XLA) is a rare genetic disorder in which don’t generate of mature B cells, which manifests as a complete or near-complete lack of proteins called gamma globulins, including antibodies, in their bloodstream. The BTK protein is the key regulator of β-cell maturation, so mutations in the BTK gene lead to hereditary agammaglobulinemia. Detection of mutations of the BTK gene is important for confirmation of the diagnosis in patients with XLA. Methods. DNA and RNA extraction, RT-PCR, direct Sanger sequencing of PCR fragments. Results. An analysis of blood samples from patients with XLA using a proposed test system was performed. It has been shown that the proposed test system allows for the initial screening of mutations in the BTK gene. Conclusions. The test system for the detection of mutations in patients with X-linked agammaglobulinemia, based on using of reverse transcriptase PCR and direct sequencing, was developed and tested on clinical samples. This system is proposed for the initial screening of BTK gene mutations inUkraine. Keywords: X-linked agammaglobulinemia, XLA, BTK, mutation, RT-PCR, primary immunodeficiency.

scholarly journals Detection of Human Polyomaviruses in Urine from Bone Marrow Transplant Patients: Comparison of Electron Microscopy with PCR

2004 ◽  
Vol 50 (2) ◽  
pp. 306-312 ◽  
Author(s):  
Stefan S Biel ◽  
Andreas Nitsche ◽  
Andreas Kurth ◽  
Wolfgang Siegert ◽  
Muhsin Özel ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Bone Marrow ◽  
Real Time ◽  
Bone Marrow Transplant ◽  
Real Time Pcr ◽  
Marrow Transplant ◽  
Test System ◽  
Urine Samples ◽  
Clinical Samples ◽  
Transplant Patients

Abstract Background: We studied electron microscopy (EM) as an appropriate test system for the detection of polyomavirus in urine samples from bone marrow transplant patients. Methods: We evaluated direct EM, ultracentrifugation (UC) before EM, and solid-phase immuno-EM (SPIEM). The diagnostic accuracy of EM was studied by comparison with a real-time PCR assay on 531 clinical samples. Results: The detection rate of EM was increased by UC and SPIEM. On 531 clinical urine samples, the diagnostic sensitivity of EM was 47% (70 of 149) with a specificity of 100%. We observed a linear relationship between viral genome concentration and the proportion of urine samples positive by EM, with a 50% probability for a positive EM result for urine samples with a polyomavirus concentration of 106 genome-equivalents (GE)/mL; the probability of a positive EM result was 0% for urine samples with <103 GE/mL and 100% for urine samples containing 109 GE/mL. Conclusions: UC/EM is rapid and highly specific for polyomavirus in urine. Unlike real-time PCR, EM has low sensitivity and cannot quantify the viral load.

Studies on Diagnosis of Bovine Brucellosis by Immunocyto-chemistry and Immunohistochemistry

2021 ◽  
Author(s):  
K.S. Lakshmikanth ◽  
N.S. Sharma ◽  
D. Pathak ◽  
Paviter Kaur
Keyword(s):  
Biochemical Analysis ◽  
Placental Tissue ◽  
Diagnostic Techniques ◽  
Clinical Samples ◽  
Bovine Brucellosis ◽  
Reproductive Disorders ◽  
Chain Reaction ◽  
Tissue Samples ◽  
Polymerase Chain ◽  
Positive Results

Background: Brucellosis is a major threat to livestock economy and an important zoonotic disease. A rapid and accurate diagnosis is a necessity to curb the spread and progress of the disease. The current study aimed to evaluate sensitivity of Immunocytochemistry and Immunohistochemistry methods for detection of Brucella spp.Methods: A total of 50 samples comprising of fetal stomach content, vaginal discharges and placenta were collected from cattle and buffaloes suffering from abortions and other reproductive disorders in and around Ludhiana, Punjab during the period 2017-2018. All the samples were processed for isolation and confirmed with biochemical analysis and Polymerase chain reaction (PCR). The isolates obtained and 43 clinical samples excluding placental samples were subjected to Immunocytochemistry (ICC). Immunohistochemistry (ICH) was performed on placental samples.Result: A total of four isolates were recovered from the screened samples. The four isolates also yielded positive results in Immunocytochemistry. Among the 43 clinical samples screened by Immunocytochemistry, five were positive, however only 3 isolates were recovered on isolation. A total of seven placental tissue samples were processed and subjected to immunohistochemistry. Of the three placental samples positive by immunohistochemistry, only one sample was isolated on culture. The results suggest that both immunocytochemistry and immunohistochemistry are sensitive diagnostic techniques in comparison to isolation.

scholarly journals Cytogenetic analysis of chimerism and leukemia relapse in chronic myelogenous leukemia patients after T cell-depleted bone marrow transplantation

Blood ◽  
1990 ◽  
Vol 75 (6) ◽  
pp. 1346-1355
Author(s):  
K Offit ◽  
JP Burns ◽  
I Cunningham ◽  
SC Jhanwar ◽  
P Black ◽  
...  
Keyword(s):  
Bone Marrow ◽  
T Cells ◽  
Bone Marrow Transplantation ◽  
T Cell ◽  
Marrow Transplantation ◽  
Myelogenous Leukemia ◽  
Host Cells ◽  
Clinical Relapse ◽  
Cytogenetic Studies ◽  
Ph Chromosome

Serial cytogenetic studies were performed on 64 patients with chronic myelogenous leukemia (CML) after T cell-depleted allogeneic bone marrow transplantation (BMT). Forty patients with CML in chronic phase (CP) received cytoreduction followed by BMT with HLA-matched T cell-depleted allogeneic marrow. The remaining 24 patients were transplanted in second chronic, accelerated, or blastic phase, or received T cell- depleted grafts with a dose of T cells added back. The Y chromosome and autosomal heteromorphisms were used to distinguish between donor and host cells. Mixed hematopoietic chimerism (presence of donor and host cells) was identified in 90% of patients in first CP. The Philadelphia (Ph) chromosome reappeared in 16 of the 40 first CP CML patients. As expected, patients who had detectable Ph chromosome positive cells at any time during the posttransplant period had a high likelihood of subsequent clinical relapse. Transient disappearance of the Ph positive clone was rarely observed, and was followed by reappearance of the Ph chromosome or clinical relapse. A subset of engrafted patients with greater than 25% host cells within 3 months post-BMT had a significantly shorter survival time free of cytogenetic or clinical relapse compared with other patients. In patients who had received donor T cells added to the T cell-depleted graft, there was a higher proportion of complete chimerism. Clonal progression of Ph positive as well as negative cells was observed and may be the result of radiation induced breakage. Serial cytogenetic studies of patients post-BMT can provide useful information regarding the biologic and clinical behavior of CML.

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