Nitin N. Kadam

Spectrum of complex chromosomal aberrations in a myelodysplastic syndrome and a brief review

Myelodysplastic syndrome (MDS) is a heterogeneous premalignant condition characterized by cytopenia, ineffective hematopoiesis, dysplastic marrow, and risk of progression to acute myeloid leukemia. Cytogenetic abnormalities, including del(3q/5q/7q/11q/12p/20q), monosomy 5/7, trisomy 8/19, i(17q), and -Y, are the indicators of diagnosis and risk stratification. The present case with bicytopenia detected with highly complex chromosome rearrangements with variability in numerical and structural combinations. Chromosome analysis was carried out following unstimulated marrow culture and G-banding. In addition to known MDS-aberrations, der(9p), der(12) dic(12;?19), +15, -18, and ring and marker chromosomes were recorded having, at least, nine abnormal chromosomes/cell. To our knowledge, this is the first case with all MDS-aberrations in one single individual. The case has been discussed in relevance to current MDS research. In the present case, i(17q)/-17, der(12p), del(5q26), del(7q36), and del(20q11) indicate possible alterations in TP53, ETV6, IDH2, EZH2, and SRSF2 genes, which are responsible for pathomechanism, genetic instability, clonal evolution, and advancement of disease condition.

Complexity of chromosomal rearrangements in Down syndrome leukemia

Reports on imbalanced HSA21 gene expression and chromosomal rearrangements on leukemogenesis, drug sensitivity, and treatment outcome of leukemia in Down syndrome (DS) are limited. DS has been recognized as one of the most common leukemia-predisposing syndromes with unique clinical features, significant differences in treatment outcome and treatment-related toxicity profiles. Acute myeloid leukemia (AML), especially acute megakaryocytic leukemia, is reported with high cure rates presenting 80%–100% event-free survivals (EFSs); however, acute lymphoid leukemia indicates a worse prognosis in DS patients compared to non-DS children. Complex rearrangements are responsible for poor-to-very poor prognosis in all cases, irrespective of genetic predisposition or type of hematopoietic subunits affected. We report a 2-year-old female DS diagnosed with acute erythroleukemia (French–American–British: AML-M6) with highly complex chromosomal rearrangements in the bone marrow with 39 chromosomes. Parental consanguinity and genetic predisposition might be responsible for origin of multiple clones. Genetic instability and heterogeneity of complex clonal developments might cause poor prognosis. The case is a rare one with acute erythroleukemia in DS patient where too many rearrangements had masked identification of three 21s.

Effect of age at exposure on chromosome abnormalities in MIC-exposed Bhopal population detected 30 years post-disaster

Follow-up cytogenetic study was carried out on 145 individuals from areas stratified by Indian Council of Medical Research, for evaluation of the effect of age-at-exposure and its interaction with exposure status on chromosomal aberrations (CA) in blood-lymphocytes. CA was presented as abnormal cell (Abc), aberrations (Abn) and number of aberration/abnormal cell (Abn/Abc), and correlated with age-at-exposure (childhood: <1-10 years; young: 11-26 years; adult: >27 years). Age related increase in abnormalities (Abc, Abn, Abn/Abc) was observed in all exposure strata, except moderately exposed adult-group, which has exhibited lower Abn/Abc than similarly exposed childhood and young age-groups. Elevation of CA was also related to exposure status. Abn/Abc frequency was significantly higher in the severely exposed young and adult groups compared to the controls of the same age. Two-way ANOVA revealed significant abnormalities between the exposed groups; however, interaction of age and exposure was not statistically significant. Significant difference in group-means of Abc and Abn was also observed between adult and childhood in Tukey HSD test. Altogether, a significant interaction of age and MIC-exposure on CA could not be established due to inter-individual variation and lack of baseline information on CA. Significantly higher Abn was observed in people consuming tobacco; however, interaction of lifestyle with additional environmental/occupational exposures during last 30 years against a background exposure to MIC remained un-elucidated. Nevertheless, the study was important for demonstration of the correlation of the current status of CA in circulating lymphocytes with age and exposure status of the MIC-exposed survivors.

Comparison between sepsis markers and blood culture in diagnosis of neonatal sepsis: a prospective study

Background: Neonatal septicaemia is one of the commonest causes of neonatal mortality and morbidity. Accurate and timely diagnosis of neonatal sepsis remains a major challenge to the pediatricians and neonatologists. In the present study, correlation between sepsis screening and blood culture in neonate presenting with features of sepsis is done to accelerate the diagnostic process and blood culture (considered gold standard) was evaluated as marker for sepsis detection and its effectiveness was compared with other septic markers. Methods: In present study, we emphasize to study early indicators of sepsis screen and their statistical correlation with blood culture (considered as gold standard). Results: As any sepsis screen parameters showed little correlation with blood culture, yet on combination it was found that specificity and positive predictive accuracy increased while sensitivity decreased them individual tests. Also combination of tests yield better results than single tests. Conclusions: The combination of sepsis makers yielded diagnostic results than single tests and proved to be an invaluable aid for early diagnosis of neonatal sepsis.

Sustainable Raft Based Hydroponic System for Growing Spinach and Coriander

According to the existing problems of low efficiency and hard labor, intellectualized agricultural production system is designed. Agricultural production is moved toward a road to soilless agriculture by developing exact crop model. Especially Green leafy vegetables consumption has been associated with decreased risk of persistent metabolic diseases. Growing green leafy vegetables hydroponically can be an option of sustainable food production in non-agricultural regions of the world. We report a use of a simple; laboratory-scale raft based hydroponic culture system for growing Spinach and Coriander in Central Research Lab, MGMIHS Navi Mumbai. In this system the plants are grown on polystyrene boards (rafts) that float on top of water. Plants sit in 2″ (5.1 cm) net pots supported by the white polystyrene covers or rafts. Grow-beds are filled with enough water to reach the bottom of the net pots and lets plant roots grow down into the water to take up nutrients. It is noted that this leaves about 5 cm of air space between the raft and the surface of the water. Water quality, pH, conductivity should be tested twice a week. Also levels of toxicants such as ammonia and nitrite should be monitored to ensure they are declining as bio-filter bacteria grow. The results show that both plants mature within 4–5 weeks. Plants had different morphological value i.e. the height of the plants was larger than the soil grown spinach and coriander plant at optimum condition. From the leaves of hydroponically grown plants, extract was made which was quantified for the presence of iron with spinach having 0.5 gm/100 gm and coriander having 0.4 gm/100 gm and chlorophyll content of spinach (11.5 ± 0.4 ug mg-DW−1) and coriander (10.4 ± 0.4 ug mg-DW−1). We present an optimized raft based hydroponic culture system that can be quickly and cheaply setup. This system produces plants with similar growth kinetics to soil-grown plants. This system is critical and multi dollar global business for climatically challenged regions. This system has vast application prospect.