Overview on Pediatric Myelodysplastic Syndrome: A Review

Myelodysplastic syndrome (MDS) is a set of clonal bone marrow diseases in children that are characterised by peripheral cytopenia, dysplastic alterations in the bone marrow, and inefficient hematopoiesis. MDS is uncommon in children, with just 1-4 occurrences per million children afflicted. Adults, particularly the elderly, are more susceptible to the disease. Some hereditary disorders, such as Fanconi's anaemia, Shwachman's, and Down's syndromes, are known to predispose children to developing MDS. JCML and monosomy 7 syndrome are the two most frequent paediatric MDS types, both of which affect children in their early years. Approximately 20% of juvenile myelodysplastic syndrome (MDS) cases are discovered by chance during normal laboratory testing or during the course of a suspected hereditary bone marrow failure (IBMF). Differentiating MDS with low blast numbers from aplastic anaemia (AA) and MDS with excess blasts from AML are the two key diagnostic issues in this condition. Bone marrow transplantation and stem cell transplantation is the treatment of choice in most cases. In this article we discuss the disease epidemiology, diagnosis, and treatment.

Genetics of Myelodysplastic Syndromes

Myelodysplastic syndrome (MDS) describes a heterogeneous group of bone marrow diseases, now understood to reflect numerous germline and somatic drivers, characterized by recurrent cytogenetic abnormalities and gene mutations. Precursor conditions including clonal hematopoiesis of indeterminate potential and clonal cytopenia of undetermined significance confer risk for MDS as well as other hematopoietic malignancies and cardiovascular complications. The future is likely to bring an understanding of those individuals who are at the highest risk of progression to MDS and preventive strategies to prevent malignant transformation.

Factors associated with erythropoiesis-stimulating agent hyporesponsiveness anemia in chronic kidney disease patients.

Anemia is one of the most common problems in chronic kidney disease (CKD). In several cases, despite comprehensive investigations, definite causes of anemia frequently remain unknown. We aimed to analyze the factors that possibly affect anemia in CKD patients who were referred for hematology consultation. A total of 87 patients were retrospectively included in the cohort. Forty-four cases were excluded, 30 cases with unavailable intact parathyroid hormone (iPTH) data, 11 cases with bone marrow diseases (8 Pure red cell aplasia, 3 Myelodysplastic syndrome) and 3 cases with thalassemia. Totally, 43 patients were analyzed. Patients with high iPTH had significantly lower Hemoglobin (Hb) level and required higher dose of erythropoietin stimulating agents (ESAs) compared with normal iPTH group (Hb 8.29 vs 9.24 mg/dL, p=0.032 and ESAs dose of 16,352.94 vs. 12,444.44 U/ week, p=0.024). In univariate followed by stepwise multivariate analysis, serum phosphate (PO4) was significantly associated with lower Hb level (p=0.01 and p=0.013, respectively). Hb level was inversely correlated with iPTH and PO4 level (r=-0.54, p<0.001 and r=-0.47, p=0.05; respectively). Mineral disequilibrium is an important factor associated with anemia in ESA hyporesponsive CKD. Hyperphosphatemia and secondary hyperparathyroidism are significantly correlated with low Hb. Therefore, we strongly suggest correction of these mineral disequilibrium factors prior to performing bone marrow study.

Clinical and laboratory profile of dengue fever: a retrospective study

Background: The global incidence of dengue has grown dramatically in recent decade. Half of world’s population is now at risk. India represents significantly a larger burden, accounting for nearly 34% of the global burden of dengue infection. Dengue infection needs to be addressed as a single disease with different clinical presentations ranging from asymptomatic conditions to severe clinical courses that may lead to high morbidity and mortality.Method: This was retrospective observational study carried out during period of July 2017 to April 2018, to study clinical profile and laboratory parameters in dengue fever patients. Confirmed dengue cases having NS1 positive or IgM positive or having both NS1 and IgM positive or dengue ELISA reactive, having minimum one CBC reports done and not having other confounding factor such as co-infection, bone marrow diseases etc. that may altered clinical and laboratory results are included in study. Statistical analysis was done by SPSS software version 18.0.Results: Out of 48 confirmed dengue cases maximum patients 58.33% was from young age group (21 to 40 years) with M:F ratio was 2.43:1. Fever was found in 100% patients, in order of frequency followed by headache, bodyache, abdominal pain, weakness, retro-orbital pain, anorexia, dry cough, back pain, nausea, diarrhoea, vomiting, rash, joint pain, itching and malena.NS1was positive in 41.67% cases, dengue ELISA in 31.25%, IgM was positive in 20.83% cases, and both NS1 and IgM positive were in 4.17% cases. TLC count was low 35.42%, high in 12.50% of cases and remaining had normal TLC count. Platelet count was ranged between normal platelet counts to thrombocytopenia. One case had platelet count less than 20000. Out of 48 patients, 2 (4.17%) had malena.Conclusion: In this study, fever was found in all patients, and headache, body ache and weakness were common symptoms, but significant number of patients also had gastroentstinal and respiratory symptoms like abdominal pain, nausea, diarrhea, vomiting and dry cough. TLC count ranging from normal TLC, leukopenia to leucocytosis. Large number of patients had low platelet count that shows dengue fever had varied clinical presentation.

BONE MARROW LESIONS: DIAGNOSIS WITHOUT BIOPSY

Routine spinal MRI can be used for bone marrow lesions detection. The most useful standard pulse sequence is T1- WI, which helps both in local and diffuse bone marrow diseases. Additional new pulse sequences, including chemical shift imaging and diffusion weighted imaging, can be used as solving-problem techniques.

Pathomechanism and clinical impact of myelofibrosis in neoplastic diseases of the bone marrow

Polyclonal mesenchymal cells (fibroblasts, endothelial cells, pericytes, osteoblasts, reticular cells, adipocytes, etc.) of the bone marrow create a functional microenvironment, which actively contributes to the maintenance of hemopoesis. This takes place through cellular interactions via growth factors, cytokines, adhesion molecules and extracellular matrix components, as well as through the control of calcium and oxygen concentration. Inflammatory and neoplastic diseases of the bone marrow result in pathologic interaction between hemopoietic progenitors and stromal cells. This may lead to the activation and expansion of the stroma and to the accumulation of reticulin and collagen fibers produced by mesenchymal cells. Clinically relevant fiber accumulation, termed as myelofibrosis accompanies many diseases, although, the extent and the consequence of myelofibrosis are variable in different disorders. The aim of this review is to summarize basic features of the normal bone marrow mesenchymal environment and the pathological process leading to myelofibrosis. In addition, the special features of myelofibrosis in bone marrow diseases, including myeloproliferative neoplasia, myelodysplastic syndrome and other neoplastic conditions are discussed. Orv. Hetil., 2014, 155(10), 367–375.