Chronic Myeloid Leukemia (CML) is a condition where blood cells proliferate abnormally forming the Philadelphia chromosome (Ph). This chromosomal aberration arises from the fusion of segments from chromosomes 9 and 22 through a reciprocal translocation. The present study focused on detection of chromosomal abnormalities and the role of survivin expression in different stages of CML. This descriptive study was conducted over a period of 3 years which constitutes 55 diagnosed CML patients. Cytogenetic tests revealed 27 (49%) patients in chronic phase (CP) with the Ph chromosome including 1 case with additional Ph copy and also a unique case with three way translocations. In accelerated phase (AP), 7(13%) patients were Ph+ve and 1 case was with isochromosome 17q and extra Ph copy. In blast phase (BP), 5 (9.0%) cases were characterised by the presence of t(9;22) and 1 case showed abnormality like gain of X chromosome and Y chromosome loss. Additionally, 9 (16%) cases were Ph-ve. FISH analysis showed varied fusion patterns, with 30(54%) cases having typical fusion,18 (33%) showing heterogeneous signal patterns. 7(13%) were categorized as normal hybridization pattern signals. In our current study, Kaplan-Meier analysis indicated higher survivin expression correlated with shorter survival and lower expression linked to longer survival in CML patients.

A myeloproliferative disorder known as chronic myeloid leukemia (CML) is caused by the clonal proliferation of haematopoietic progenitor stem cell leading to a marked raise in the granulocyte series of cells in the peripheral blood and bone marrow. The present study focused on evaluating clinical and haematological parameters. It is an observational study conducted over a period of 3 years which constitutes 50 diagnosed CML patients. Clinical and haematological details were collected. Prognostic Sokal and European treatment and Outcomes Study (EUTOS) scoring were applied to stratify different risk groups of patients. Study population showed male preponderance. The most common presenting symptom was splenomegaly (98%) followed by anaemia (94%). The patients were divided into Chronic Phase (CP), Accelerated Phase (AP) and Blast phase (BP) in males and females. In males, there was a significant reduction in haemoglobin levels as the disease progressed whereas in females, there was a reduction in haemoglobin levels. Haemoglobin count reflected the anaemic picture and was lowest in the blast phase. The blood cell indices and differential counts were within their normal range in both male and female patients. There was variation in the levels of lymphocytes among males and females but lower than the normal range. Basophil levels were significant between the different phases in females whereas platelet count was significant in males. The current study expected that there would be significant variations between male and female CML patients in a number of haematological measures which can be used as a good prognostic indicator.

Background: The purpose of the current study was to report a case with 45,X/ 46,XY/46,X,idic(Yp) mosaicism showing the male phenotype with mixed gonadal dysgenesis. Case Presentation: A 27 year-old individual, phenotypically male, presented with azoospermia and a micropenis. Both testes were not visualized in the scrotal sac. Due to the presence of a small-sized uterus, the individual was referred to the KSHEMA Center for Genetic Services for chromosomal analysis. Karyotyping revealed a mosaic karyotype of 45,X[44]/46,XY[5]/46,X,idic(Yp)[1]. This finding was further confirmed through fluorescent in situ hybridization (FISH) analysis. The individual's mosaic karyotype consisted of three cell lines, with a higher proportion of the 45,X cell line and lower proportions of the idic(Yp) and 46,XY cell lines. It is worth noting that this mosaic condition in postnatal peripheral blood has not been reported in the literature thus far. Conclusion: The case report demonstrated the importance of performing karyotype and FISH analysis in understanding genetic defects including mosaicism and other chromosomal aberrations, which can influence not only growth and puberty but also sexual development and maturation. Hence, performing cytogenetic and molecular cytogenetic analysis will help clinicians to take a further step in understanding and managing the condition.

MM (multiple myeloma) is a bone marrow disease with the accumulation of malignant plasma cells characterized by the neoplastic transformation of differentiated B cells. The onset and progression of cancer are greatly influenced by telomere dysfunction. We aimed to study the biomarker potential and prognostic significance of shelterin complex and hTERT. Telomere length and gene expression were measured using real-time quantitative reverse transcription-polymerase chain reaction (RT-qPCR), and these results were further correlated with clinical parameters. Our study showed increased expression of all genes in complex, hTERT, and TL in MM (n = 72) in comparison with controls (n = 31). TRF2 (P = 0.025) and hTERT (P = 0.0002) displayed significant association among cytogenetic analysis. The receiver operative curve showed POT1 and RAP1 with a greater area under the curve (AUC). RAP1 (P = 0.020) and hTERT (P = 0.037) displayed to be independent prognostic markers for overall survival. Clinical parameters and genes were observed to be significantly correlated. Our study findings showed variation in telomere-associated genes and suggest the participation of these genes as prognostic markers in MM. These results all together highlight the evaluation and role of genes involved in telomeric alteration and TL, providing the opportunity to study new therapeutic approaches in patients with MM.

Acute leukaemia (AL) is a heterogeneous neoplastic disease that occurs by the growth of abnormal lymphoid and myeloid cells in the bone marrow and blood leading to acute myeloid leukaemia (AML) and acute lymphocytic leukaemia (ALL). Conventional cytogenetics is a characteristic technique to hunch chromosomal abnormalities, it helps in the diagnosis and therapeutic approach of the disease by the molecular cytogenetics technique of fluorescence in situ hybridization (FISH). Chromosomal abnormalities in AL are performed by karyotyping to confirm specific chromosomal abnormalities using FISH. The descriptive study included 42 clinically diagnosed AL patients. Karyotyping analysis was performed using the standard Giemsa banding procedure. To confirm specific chromosomal abnormalities and all culture failure (CF) cases, FISH was done. Among 42 cases, 29 (69.4%) males and 13 (30.9%) females, AML comprised 22 (52.38%) cases, ALL 14 (33.33%) cases, and AL 6 (14.2%) cases. Normal karyotype was found in 18 (42.85%), abnormal karyotype in 16 (39.09%), and 8 (19.09%) were CF. Specific abnormalities of t(15;17), hyperdiploidy; t(3;3) with monosomy 7 in; del(9q22); del(2p); del(17p); del(Xq); 1~2 dmin; der(3); +11, +13 and composite karyotype. Hypodiploidy was strongly associated with AL, which signifies the loss of chromosomes causing potential risk. Composite karyotype, rare t(3;3) double minutes, +11,+13, del(9q), and del(Xq) were the novel findings reported in the South Canara region of Karnataka. Despite other molecular techniques, conventional cytogenetics remains the baseline in the diagnosis of malignancies.

BACKGROUND:Polycystic ovary syndrome is a common multifactorial endocrinopathy disorder affecting 5-15% of reproductive women worldwide. The CYP19 gene encodes key enzyme aromatase involved in androgen-to-estrogen conversion which plays a crucial role in the pathophysiology of the syndrome. Very few studies have been done in the Indian population; hence, we investigated whether CYP19 gene rs2414096 SNP is associated with PCOS and hyperandrogenism susceptibility in Karnataka women.METHODS:Three-hundred subjects including 150 PCOS and 150 age-matched controls were involved in the current case-control study. Sex hormones and biochemical estimation were performed by ELISA. Sanger sequencing and PCR-RFLP were used to genotype the SNP rs2414096. Genotypic-phenotypic association was studied. Statistical analysis was performed.RESULTS:The GG genotype was more common in patients, while the GA genotype was more common in control women. LH/FSH was significantly increased in GG genotype in PCOS when compared with AA and GA genotypes. Variations of CYP19 rs2414096 were not statistically significant with PCOS.CONCLUSION:CYP19 rs2414096 polymorphism was not associated with PCOS; however, the homozygous wild GG genotype may exhibit reduced aromatase activity with subsequent hyperandrogenism implicating endocrine abnormalities.

Objective: Multiple myeloma (MM) is a hematological disorder involving the uncontrolled proliferation of clonal plasma cells and its accumulation in the bone marrow. This study analyzed the frequency, cytogenetic heterogeneity, and clinical characteristics of patients with MM. Methods: Bone marrow aspirates were obtained from 72 patients with MM and evaluated by conventional cyto-genetics (CCs) and interphase fluorescence in situ hy-bridization (iFISH) techniques for a panel of probes, including immunoglobulin heavy chain (IgH)/CCND1, IgH/fibroblast growth factor receptor 3 (FGFR3), IgH/ MAFB, 13q deletion, and deletion 17p. Results: CCs revealed abnormal karyotypes in 39% of the patients examined. The incidence of hypodiploidy was 28% (20/72) while that of hyperdiploidy was 10% (7/72). iFISH analysis revealed t(11;14) in 6% (4/72) and t(4;14) in 11% (8/72) of patients. Patients with hyperdiploidy and hypodiploidy were associated with several monosomies and trisomies. Kaplan-Meier analysis revealed a signifi-cant difference between positive and negative groups for t(4;14), trisomy 14, and monosomy 13; this was associated with a shorter survival time. Cox proportional analysis identified t(4;14) (P = 0.032), trisomy 14 (P = 0.004), and monosomy 13 (P = 0.009), as significant factors with haz-ard ratio of 0.187 [confidence interval (CI): 0.041-0.862], 0.109 [CI: 0.024-0.500] and 0.134 [CI: 0.030-0.600]. Conclusion: In addition to cytogenetic abnormalities, iFISH analysis revealed significant heterogeneity among patients with MM. Cytogenetic heterogeneity in patients with MM should be considered as a major prognostic marker contributing to the variability of the disease. Our findings suggest that these abnormalities are independent prognostic factors.

Introduction and Aim: Citrus fruits are rich in polyphenolic compounds. The conventional medical system has utilized the fruit’s entire composition including the peel for its diverse biological functions. With this, the study aimed to assess and compare the phytochemical, in-vitro antioxidant analysis as well as polyphenol and flavonoid content of Citrus maxima juice, aqueous and ethanolic extracts of its pulp and peel. Materials and Methods: Qualitative phytochemical screening, total phenolic content and total flavonoid content and different in-vitro antioxidant assays like total antioxidant capacity (TAC), Ferric reducing antioxidant power assay (FRAP), 2,2-diphenyl-2-picryl hydrazyl (DPPH) radical scavenging assay were carried out to evaluate the in-vitro antioxidant potential in the juice, aqueous and ethanolic extract of pulp and peel of C. maxima. Gas chromatography–Mass spectrometry (GC–MS) analysis was performed in the peel ethanolic extract to identify the compounds present. Results: Preliminary phytochemical analysis revealed the presence of triterpenoids and steroids, glycosides, alkaloids, flavonoids, carbohydrates and vitamin C in all the C. maxima crude extracts. Tannins were present only in pulp of ethanol extract and in both aqueous and ethanol extracts of peel. Resins were present in the juice and ethanol extract of pulp and peel. The total phenol and total flavonoid content was comparatively higher in ethanolic extracts of peel. All the extracts showed dose-dependent free radical scavenging activity. The reducing potential of the C.maxima extractives increased with the increase in its concentration. GC-MS analysis of ethanolic peel extract identified key constituents with pharmacological effects. The ethanolic peel extract showed good antioxidant activity and free radical scavenging activity when compared to other extracts. Conclusion: The results indicated that ethanolic peel extract of Citrus maxima revealed the highest presence of polyphenolic compounds, which are secondary plant metabolites with potential antioxidant activity.

Chronic Myelogenous Leukemia (CML) is a slow progressing condition caused by balanced translocations of chromosomes 9 and 22, also defined as the Philadelphia (Ph)chromosome, containing the BCR-ABL1 oncogene. CML is classified into three stages; the Chronic, the Accelerated and the Blast crisis phase. These phases are associated with chromosomal translocations and secondary changes. Over the years, innovative scientific development in cancer cytogenetics has considerably improved the detection of chromosomal abnormalities. Fluorescence In situ Hybridization (FISH) method allows further identification of chromosomal alterations that karyotyping cannot resolve. Karyotyping is a gold standard technique that provides the human genome overview. This review mainly focuses on further chromosomal abnormalities, biology of CML, pathways, and therapeutic regimens. The study highlights CML subdivisions and the clinical importance of additional chromosomal abnormalities.

Acute leukemia (AL) is a haematological neoplasm associated with undifferentiated clonal expansion resulting in impaired haematopoiesis and bone marrow failure. Neutrophils, platelets and lymphocyte cells have been involved in inflammation and peripheral neutrophil-to-lymphocyte (NLR) and platelet-tolymphocyte (PLR) ratios play a vital role in the prognosis of the disease. To study the association of NLR and PLR in the clinical parameters of acute leukemia patients, a study of 42 clinically diagnosed AL patients was conducted in our institute. The patients were categorized into two groups based on cut off points of NLR=2.8 and PLR=174. The haematological parameters like gender (p= 0.0074), bilirubin direct (p=0.0429), bilirubin total (p=0.0396) had a significant difference in NLR and haemoglobin (p=0.0316), platelet count (p=0.0140) were having a significant difference in PLR. There was a significant difference among the flowing parameters like TLC (p=0.0229), Platelet counts (p=0.0006) with PLR. Absolute lymphocyte count (ALC) was negatively correlated with both NLR and PLR having a significant difference (p=0.0495) and (p=0.0360) respectively. A negative correlation was observed in absolute neutrophil count (ANC) having a significant difference (p= 0.0456). The baseline characteristics of NLR and PLR are significantly associated with disease-specific and overall survival in acute leukemia could potentially be helpful in routine clinical practice and future clinical trials to identify patients.

Introduction and Aim: Obesity influences the serum lipid profiles leading to dysregulation of lipid metabolism in which fatty acid transporter like FATP 1 (Fatty acid transport protein 1) are recognized to play a key role in BC progression. Aim of the present study is to compare FATP1 levels in women with and without BC. Materials and Methods: In this case-control study, 50 BC and 50 control subjects were recruited. Serum was separated from the blood and baseline characteristics like height, weight, age and BMI were noted for all the subjects. Lipid profile and serum level of FATP1 was estimated using a commercially available kit. P<0.05 was found as statistically significant. Results: The serum FATP1 levels in subjects with breast cancer differed significantly between the case and control. TC, TAG, HDL-C, LDL-C, and VLDL-C differed between two groups and were statistically significant. Further, serum FATP1 levels in subjects with BC were compared based on the status of the receptor showed a significant difference in TG, VLDL-C and serum FATP1.Correlating the serum FATP1 levels with baseline characteristics and lipid profiles in subjects with BC, age showed a positive correlation with serum FATP1 levels. Correlation of FATP1 with different receptor status in subjects with BC showed a positive correlation between FATP1 and VLDL in ER+/PR-/HER2+ receptor status, FATP1 and HDL-C showed a positive correlation in triple-negative BC. Conclusion: Though extensive research on breast cancer is underway, Study reports on serum level of FATP1 in BC are scarce. Current study demonstrates the importance of serum levels of FATP1 in BC. Further study on the molecular regulation of FATP1 in BC will add to the knowledge, and findings of the study implicates for utilizing FATP1 as a biomarker in BC.

Introduction and Aim: Polycystic ovary syndrome is a diverse condition that contributes to metabolic problems like insulin resistance and hyperandrogenism which women experience during their reproductive years, and it is closely related to the body mass index. The purpose of this study was to evaluate the clinical, biochemical, and hormonal profiles of PCOS patients and healthy women concerning age and BMI and to correlate insulin with other parameters. Materials and Methods: The present case-control study was conducted from June 2019-April 2021. 180 PCOS women and 170 age-matched healthy women were enrolled from Mangalore, Karnataka. Anthropometric measurements, biochemical, hormonal profile, and the presence of IR were estimated in all patients and were further subdivided based on age and BMI. Results: The mean age of patients with PCOS and controls was 25.9± 5.6 years vs 24.7 ± 6.8 years. BMI and WHR had statistical significance (p<0.01) between the groups. TG & HDL showed statistical significance (p<0.05) in both age groups who were underweight and had normal BMI. A significant difference (p<0.05) was also observed in plasma insulin and HOMA-IR in all groups except in women who were obese. Conclusion: PCOS women were presented with hyperandrogenism and had metabolic risk factors like insulin resistance and low HDL-C levels at budding age and increased BMI. When comparing women with and without PCOS from the south Indian state of Karnataka, our findings revealed that changes in sex hormone levels had no significant impact on age or BMI.

Multiple Myeloma (MM) is a haematological malignancy associated with various symptoms such as renal deficiency, anaemia, bone lesions and hypercalcemia. To elucidate the mechanism of cyclin D1 expression in MM patients, MM patients were evaluated for t(11;14)(q13;q32) by Interphase Fluorescence in situ hybridization (iFISH) and cyclin D1 expression by Reverse transcriptase-quantitative polymerase chain reaction (RT-qPCR).The incidence rate of t(11;14)(q13;q32) and trisomy 11 was 6% and 15% respectively. Cyclin D1 expression was higher in cases than controls. t(11;14) positive and trisomy 11 patients showed higher expression than patients without t(11;14) and trisomy 11. We found that t(11;14)(q13;q32) was associated with calcium and creatinine. A positive correlation was seen between cyclin D1 expression and globulin and a negative correlation between cyclin D1 and sodium levels.Our study indicated that other than t(11;14), trisomy 11 is also associated with overexpression of cyclin D1. Therefore, identifying a gene expression and its association with trisomy 11 indicate novel therapeutic targets.

Objective The mandible has been used for sex determination and forensic identification due to its unique anatomy and morphology. Every part of the mandible is unique, including the shape and size of the temperomandibular joint, the ramus, the body and the symphysis region, and the inferior alveolar canal. In addition, the position and placement of the teeth within their sockets are unique for every individual. Sample Population A study was conducted on 20 males and females to estimate sexual dimorphism using anthropometric measurements obtained by cone beam computed tomography images of the mandible of Karnataka and Kerala populations. Materials and Methods The mean, standard deviation, and standard error along with the confidence interval of different measurements were documented. Various measurements between the sexes were compared using Student's t-test. Association between categorical variables was analyzed using the Chi-square test. A p-value<0.05 was considered to be statistically significant. Data were analyzed using statistical SPSS software. Results The p-value of mRBr L, GA L, and GA R among females was significantly higher in the Karnataka population when compared with that in the Kerala population. The Karnataka State population showed significantly higher values of RL R, BiGBr, and BiCBr among males, and the p-value of the Kerala population for GGL L and GGL R was significant and higher among the males. Conclusion The data derived from the above study suggest that the mandibular anthropometric measurements used may be applied for forensic sex estimation.

Background & Objective: Breast cancer is the most common cancer in developed and developing countries. This study mainly addresses the issue of an equivocal result in IHC, which then needs further assessment if the patient has to receive targeted therapy. The study aimed to detect the expression of Her2/neu protein in breast cancer by immunohistochemistry (IHC) and Fluorescence in situ Hybridization (FISH) and evaluate concordance and discordance between the two methods. Also, the clinicopathological parameters in these patients were studied in association with ER, PR, HER-2, and Ki-67. Methods: This study was conducted on 34 female carcinoma breast specimens, including core biopsies and mastectomies. Each case underwent histopathological and immunohistochemical studies for (Estrogen Receptor) ER, (Progesterone Receptor) PR, (Human Epidermal growth factor Receptor 2) HER-2, and Ki-67. In addition, FISH was done on all the samples to detect Her2 gene amplification. Results: The overall concordance between the two tests was 79.41% while the concordance between the two tests in equivocal cases, was 14.3%. ER/PR expression and HER-2 amplification were inversely associated. Also, Ki-67 expression was not associated with the side size of the lesion, lymphovascular invasion, and lymph node metastasis. Age less than 50 at presentation and infiltrating ductal carcinoma histological type showed increased proliferation index. Conclusion: The highest concordance between FISH and IHC was noted in IHC positive and negative cases, whereas IHC equivocal cases showed low concordance. FISH accurately determines the assessment of HER2 expressions in equivocal cases.

Background: Multiple myeloma (MM) is a malignant neoplasm of clonal plasma cells. Neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) are prognostic factors and biomarkers of systemic inflammation. The aim of this study was to determine a correlation between NLR, PLR, and hematological parameters in patients with MM. Methods: The clinical data of 50 MM patients were collected from hospital medical records. NLR and PLR were calculated from data obtained from clinical records. Results: The median age was 60 years at diagnosis. The study cohort was divided into two groups based on cutoff points taken from previously published data (NLR: 2.56 and PLR: 157). Erythrocyte sedimentation rate, blood urea, uric acid, platelet count, and absolute neutrophil count were higher in patients with high NLR than in patients with low NLR. A significant association between NLR and blood urea was seen (P < 0.0018). Pearson's correlation analysis revealed a strong positive correlation for blood urea and NLR, uric acid and NLR, and blood urea and PLR. Conclusion: Thus, combined applications of NLR and PLR could be used as a cost-effective diagnostic predictor of MM patients.

Background: Infertility affects about 15% of couples worldwide, and the male factor alone is responsible for approximately 50% of the cases. Genetic factors have been found to play important roles in the etiology of azoospermia and severe oligospermia conditions that affect 30% of individuals seeking treatment at infertility clinics. Objective: To determine the frequency of chromosomal abnormalities and Y chromosome microdeletion in infertile men. Materials and Methods: A total of 100 infertile men with abnormal semen parameters were included in this study from 2014 to 2018. Chromosomal analysis was carried out using standard G-banding using Trypsin Giemsa protocol. Multiplex polymerase chain reaction was used to determine the Y microdeletion frequency. Results: All participants were aged between 22 and 48 yr with a mean and standard deviation of 35.5 +/- 5.1. Of the 100 subjects included in the study, three had Klinefelter syndrome-47,XXY, one had balanced carrier translocation46,XY,t(2;7)(q21;p12), one with the balanced carrier translocation with inversion of Y chromosome 45,XY,der(13;14)(q10;q10),inv(Y), one had polymorphic variant of chromosome 15, one had Yqh-, and another had an inversion of chromosome 9. Y chromosome microdeletion of Azoospermia factor c region was observed in 2% of the cases. To the best of our knowledge, the current study is the first reported case with unique, balanced carrier translocation of chromosome 2q21 and 7p21. Conclusion: The present study emphasizes the importance of routine cytogenetic screening and Y microdeletion assessment for infertile men, which can provide specific and better treatment options before undergoing assisted reproductive technology during genetic counseling.

Platypnea-orthodexia syndrome (POS) is a rare but well-characterised condition where hypoxaemia and breathlessness occur while upright but resolve once recumbent. Early recognition can result in excellent outcomes for patients and can prevent unnecessary investigations for patients, especially if they present repeatedly to hospital after missed diagnosis. We present a case of a 75-year-old woman with a chronic history of breathlessness who was picked up after observations at a routine outpatient clinic. Early recognition of the POS allowed for appropriate investigations to take place identifying a patent foramen ovale (PFO). She was referred to the tertiary centre for closure of her PFO with complete resolution of her symptoms.

Epilepsy is a neurological disorder comprising of heterogeneous and complex brain disorder of many seizure types and epilepsy syndromes [1,2]. The overall prevalence of epilepsy in India is estimated to be 3-11.9 per 1000 population [3]. It is common practice for pediatricians and neurologists to begin long-term, daily Anti-Epileptic Drugs (AED) after a patient has experienced unprovoked seizures [4]. The AEDs lead to satisfactory seizures control for about 60–70% of newly treated patients [5] while remaining 30% of patients will have uncontrolled epilepsy with AED treatment for prolonged period with recurrent seizures, adverse effects and significantly increased risk of mortality and morbidity [1,5]. The goal of treatment of epilepsy in pediatric patient is to prevent the seizure attack for two years with an appropriate Anti-Epileptic Drug (AED) with minimal adverse effects so that the drug can be slowly tapered off later.

Radiotherapy potentially offers protection from recurrence of tumor that also causes normal tissue damage and creates major concern. Another important factor is long-term immune suppression in patients treated with radiotherapy. Therefore, crucial need for the survival of surrounding normal cells of tumor by radiation‑protecting agents is the prime focus of this study. Aqueous extract (AE) and ethanolic extract (EE), Tanacetum parthenium extracts100 mg/kg each and parthenolide (PAR) 4mg/kg body weight were orally administered prior to sub-lethal radiation dose exposure. Mice were used for the evaluation of radiation-mediated chromosomal aberrations in bone marrow cells and DNA break by comet assay in the blood lymphocytes of mice. The pro-inflammatory levels were determined by cytokine estimations namely interleukin‑2, interferongamma and tumor necrosis factor-alpha performed in the liver homogenate using ELISA kits. Thus the results demonstrated ameliorating, radio-mitigating and immune-stimulatory efficacy of AE, EE and PAR against radiation ‑induced DNA damage and immunosuppression by regulating cytokine.