Primary Evans syndrome in an adult man

Evans syndrome (ES) is a simultaneous or subsequent development of two haematological disorders, autoimmune haemolytic anaemia (AIHA) and immune thrombocytopenia (ITP). It can be primary (idiopathic) or secondary (associated with an underlying disease). Primary Evans is a diagnosis of exclusion and has a poorer prognosis than AIHA or ITP alone. We present a 55-year-old man who presented with weakness and lethargy and was diagnosed to be suffering from primary ES.

Membranoproliferative glomerulonephritis: no longer the same disease and may need very different treatment

Membranoproliferative glomerulonephritis (MPGN) is a pattern of glomerular injury that may be primary or secondary to infections, autoimmune diseases and haematological disorders. Primary C3G and IC-MPGN are rare and the prognosis is unfavourable. Based on immunofluorescence findings, MPGN has been classified into complement-mediated C3 glomerulopathy (C3G), and immune complex-mediated MPGN (IC-MPGN). However, this classification leaves a number of issues unresolved. The finding of genetic and acquired complement abnormalities in both C3G and IC-MPGN indicates that they represent a heterogeneous spectrum rather than distinct diseases. An unsupervised hierarchical clustering in a cohort of patients with primary C3G and IC-MPGN identified 4 distinct pathogenetic patterns, characterised by specific histologic and clinical features and genetic and acquired complement abnormalities. These results provide the groundwork for a more accurate diagnosis and the development of targeted therapies. The drugs that are currently used, such as corticosteroids and immunosuppressants, are frequently ineffective in primary C3G and IC-MPGN. Eculizumab, an anti-C5 monoclonal antibody, has been used occasionally in single cases or small series. However, only a few patients have achieved remission. This heterogeneous response could be related to the extent of terminal complement activation, which may vary substantially from patient to patient. Several drugs that target the complement system at different levels are under investigation for C3G and IC-MPGN. However, clinical trials to test new therapeutics will be challenging and heavily influenced by the heterogeneity of these diseases. This creates the need to characterise each patient to match the specific complement abnormality with the type of intervention.

SPLENECTOMY IN PAEDIATRIC AGE GROUP

Background: In view of splenectomy in dealing with certain clinical problems in paediatric age group. Objective: To describe the profile, indications, post-operative management and outcomes of children undergoing splenectomy. Methods: All children undergoing splenectomy from June’2019 till August’2021 at INDEX MEDICAL COLLEGE, INDORE, M.P. Results: The mean age at surgery was 9.9 years (range 3-16). Most splenectomies were per-formed for haematological disorders and were open .The mean post-operative length of stay (LOS) in patients who underwent open surgery was 4 days. No cases of overwhelming post splenectomy infec-tion (OPSI) were noted. At study completion, haematological disorders were the most common indication for splenectomy in children. Conclusion: Indications for paediatric splenectomy mirror those found in international litera-ture. We haven't performed splenectomy, laparoscopically. Within this short span of time, no mortal-ity was recorded. We did not have any case of OPSI. Key words: splenectomy

Donor Chimerism Study by Single Nucleotide Polymorphism using SYBR green based Real Time PCR

Objective: To optimize and evaluate a real time PCR of Single Nucleotide Polymorphism by SYBR Green method for detection of donor chimerism after haematopoietic stem cell transplantation. Methods: This descriptive study was conducted at Genetic Resource Centre (GRC) Lab Rawalpindi from Oct 2017 - Dec 2019. A total of twenty patients of post haematopoietic stem cell transplant with various haematological disorders were studied to see the status of donor chimerism by using SNP real time PCR using SYBR Green method and short tandem repeat PCR. These patients had undergone allogeneic HSCT from HLA-matched sibling donors at Pakistan Institute of Medical Science and Armed Forces Bone Marrow Transplant Centre. Results: Real time PCR using SYBR Green was able to detect significant amount of chimerism in all 20 patients having undergone HSCT. Regarding precision of the real time PCR assay the mean value of donor chimerism was 94.1% (SD 3.96) and by STR PCR it was 95.1% (SD 1.41). The assay was found to be sensitive with a detection limit of <1%. Conclusion: Our results demonstrate that SNP analysis by SYBR Green real time PCR may be used for the evaluation of chimerism status in patients having undergone HSCT with a sensitivity of <1%. Hence donor chimerism by this sensitive method can be used in monitoring of chimerism in post-transplant patients with various haematological disorders. doi: https://doi.org/10.12669/pjms.37.7.4203 How to cite this:Nayyar A, Ahmed S. Donor Chimerism Study by Single Nucleotide Polymorphism using SYBR green based Real Time PCR. Pak J Med Sci. 2021;37(7):---------. doi: https://doi.org/10.12669/pjms.37.7.4203 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Neoteric Algorithm Using Cell Population Data (VCS Parameters) as a Rapid Screening Tool for Haematological Disorders

Hitherto, there has been no comprehensive study on the usefulness of cell population data (CPD) parameters as a screening tool in the discrimination of non-neoplastic and neoplastic haematological disorders. Hence, we aimed to develop an algorithm derived from CPD parameters to enable robust screening of neoplastic from non-neoplastic samples and subsequently to aid in differentiating various neoplastic haematological disorders. In this study, the CPD parameters from 245 subtypes of leukaemia and lymphoma were compared against 1103 non-neoplastic cases, and those CPD parameters that were vigorous discriminants were selected for algorithm development. We devised a novel algorithm: [(SD-V-NE*MN-UMALS-LY*SD-AL2-MO)/MN-C-NE] to distinguish neoplastic from non-neoplastic cases. Following that, the single parameter MN-AL2-NE was used as a discriminant to rule out reactive cases from neoplastic cases. We then assessed CPD parameters that were useful in delineating leukaemia subtypes as follows: AML (SD-MALS-NE and SD-UMALS-NE), APL (MN-V-NE and SD-V-MO), ALL (MN-MALS-NE and MN-LMALS-NE) and CLL (SD-C-MO). Prospective studies were carried out to validate the algorithm and single parameter, MN-AL2-NE. We propose these CPD parameter-based discriminant strategies to be adopted as an initial screening and flagging system in the preliminary evaluation of leukocyte morphology.

1442 Are Blood Group and Antibody Screening Necessary Before Emergency Laparoscopic Appendicectomy?

Aim The incidence of bleeding complications in laparoscopic surgery are low. At present, there are no national guidelines on pre-operative blood group and antibody screening (G&S) in patients undergoing emergency laparoscopic surgery. The aim of this study is to establish the incidence of intraoperative bleeding requiring transfusion during emergency laparoscopic appendicectomy. In turn, this will indicate the necessity of routine preoperative G&S. Method Retrospective data collection of all emergency laparoscopic appendicectomy procedures at a large tertiary hospital from January 2015 to January 2020 (5 years). Patients having routine or open procedures were excluded. The transfusion department records were used to identify any patients receiving a transfusion intraoperatively. Results 1362 emergency laparoscopic appendicectomy procedures were performed during the 5-year period. 4/1362 (0.29%) patients received intraoperative transfusion of blood products. Of these, 3 patients had known haematological disorders. One patient was transfused for bleeding associated with intraoperative miscarriage. Conclusions No patients required transfusion for surgical haemorrhage. The small number of patients requiring transfusion were predictable because of pre-existing haematological disorders and clinical status. Our data is one of the largest series available and the results demonstrate that routine preoperative G&S is not justified. Instead, a selective approach would ensure high risk patients are appropriately screened. In event of vessel injury and major haemorrhage, O negative blood can be used. Furthermore, we estimate that elimination of a routine second G&S sample could have saved our institution approximately £2500 per year.

The transcription factor HNF4a: A Key player in haematological disorders

HNF4a is one of the steroid hormone receptor family of transcription factors with roles in the development of the liver and the regulation of several critical metabolic pathways such as glycolysis, drug metabolism, apolipoproteins, and blood coagulation. HNF4a transcriptional potency is well known due to its involvement in diabetes and other metabolic diseases. However, recently HNF4a has become highly associated with several haematological disorders, mainly because of genetic mutations, drugs and hepatic disorders. We review HNF4a structure and function, and its role in haematological disorders. We discuss possible novel therapies that are based on targeting HNF4a. There is no doubt that HNF4a based prognostic markers and therapeutic interventions will offer new opportunities in the clinical interventions of haematological disorders.

Clinico-Haematological Study of Pancytopenia – An Experience from a Tertiary Care Centre in Western Odisha

BACKGROUND Pancytopenia is a relatively common haematological entity with simultaneous presence of anaemia, leucopenia and thrombocytopenia. It is a feature of many medical and haematological disorders like megaloblastic anaemia, drug-induced bone marrow hypoplasia, even fatal leukaemia and bone marrow aplasia. The clinical and haematological studies determine the proper diagnosis and management of patients. Bone marrow examination is an important diagnostic procedure for determining the cause of pancytopenia. This study was conducted to evaluate clinico-haematological findings, identify the causes of pancytopenia, and compare our findings with other similar studies. METHODS The four-year retrospective study was carried out in the Department of Pathology at a tertiary care hospital in western Odisha, India. Data regarding clinical details, peripheral blood and bone marrow aspirations were collected and analyzed using simple statistical methods. RESULTS A total of 131 cases of pancytopenia were studied. The age range of patients was 3 years to 72 years, with a mean of 36.5 years. Male to female ratio was 0.84 : 1. The majority of cases were in the age group of 31 – 40 years (20.61 %). Generalized weakness with pallor (54.96 percent) was the commonest clinical finding, followed by splenomegaly (16.79 %), and hepatomegaly (11.45 %). Aplastic anaemia (43.51 %) was the most common cause found on the bone marrow aspiration followed by megaloblastic anaemia (22.14 %) and haematological malignancies. Among the haematological malignancies, acute myeloid leukaemia was the commonest cause of pancytopenia (10.69 %). CONCLUSIONS Bone marrow aspiration in cytopenic patients helps in understanding the disease process and to diagnose or rule out the causes of cytopenia. Different geographical areas have a different presentation of haematological disorders. KEYWORDS Bone Marrow Aspiration, Pancytopenia, Aplastic Anaemia

Haematological Malignancies: Overview of the Recent Progresses in Genetics

Genetic defects play a major role in pathogenesis of the most of haematological malignancies, including cytogenetic abnormalities, gene mutations, and abnormal gene expression. Our knowledge about the genetics of haematological disorders has been dramatically improved during the past decade, due to revolution of sequencing technologies which have played a crucial role. In this chapter, we describe the techniques commonly employed for elucidating chromosomal aberrations, prognostic impact of recurrent chromosomal abnormalities, and recently updated risk stratification systems. We will summarise the chromosomal abnormalities recently identified on many of haematological diseases such acute myeloid leukaemia, acute lymphoid leukaemia, myelodysplasic syndrome, multiple myeloma, meyloproliferative disease and clarify their impacts on clinical phenotype and prognosis, as well as their role in the pathogenesis of these diseases. The aim of this chapter is to provide a brief overview of the recent progresses in haematological diseases genetics.