Browsing by Author "Amit Kumar Rai"

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A live cysticercosis in anterior chamber leading to glaucoma secondary to pupilary block
(2007) Abhishek Chandra; Mahendra Kumar Singh; Virendra Pratap Singh; Amit Kumar Rai; Somnath Chakraborty; Om Prakash Singh Maurya
A 28-year-old woman presented with pain and redness in her left eye. On examination, a free-floating cyst of size 4 mm with prominent scolex was observed in the anterior chamber. Scolex was occasionally moving in and out of its bag. To prevent the cyst migrating to the posterior chamber, pilocarpine eye drops were instilled. After 2 hours, the patient developed total pupilary block with iris bombe. The intraocular tension was 48 mm Hg. The diagnosis of cysticercosis leading to glaucoma secondary to pupilary block was made. The cyst was removed surgically by viscoexpression. The histopathology proved to be a cysticercosis. © 2007 Lippincott Williams & Wilkins, Inc.
An unusual phenotypic and genotypic expression in F2 generation following one stage zidovudine exposure during pregnancy and lactation-an experiment in mice
(Japanese Society of Toxicology, 2012) Chongtham Rajlakshmi; Jagat Kumar Roy; Amit Kumar Rai; Asima Bhattacharyya; Bajarang Lal Pandey
Zidovudine (3'-Azido-2', 3'-dideoxythymidine, AZT, ZDV) is routinely used as one of the component of antiretroviral therapy to prevent transmission of the HIV infection from mother to child. The drug, when given during pregnancy can give rise to myriad toxicities as reported in previous studies on human, animal and in-vitro experiments. The present study was an attempt to explore the Zidovudine teratogenesis in F1 and F2 generation of mice following initial maternal exposure to Zidovudine during pregnancy, through delivery and lactation. The F1 generation actually would have got the exposure during embryonic development and infant stages. Pregnant Swiss mice were treated orally with ZDV 50 mg/ kg/day or distilled water (control), from day eighth of gestation, through delivery and continued for first ten days of lactation. The F1 generation litters were raised and mated to produce F2 generation mice. An interesting phenotype of "healthy" and "sick" was noted in F2 generation but not in the F1 generation. In F2 generation 35% died on different postnatal day during 120 days of follow up period. Chromosomal study from bone marrow of F1 and F2 showed various chromosomal aberrations. Lipodystrophy and hepatotoxicity was observed in "sick" mice. The study generated a hypothesis of recessive mutation and concludes that Zidovudine is a transplacental genotoxic agent. The result of present study therefore suggests the need to study the effect of zidovudine in human subjects for a longer period of time to rule out similar genotoxic effect.
Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies
(Elsevier B.V., 2015) Sushil Kumar Jaiswal; Ashok Kumar; Akhtar Ali; Amit Kumar Rai
The present study deals with karyotpye-phenotype correlations in a six month old child with multiple congenital abnormalities. Cytogenetic analysis revealed mosaicism of a small metacentric supernumerary marker chromosome with a karyotype mos 47,XY + mar[34]/46,XY[31]. Cytogenetic microarray result showed three copies of chromosome 18p (15,400. kb in size). Moreover, 255. kbp intermittent deletion of chromosome 2q13 involving RGPD5, RGPD6, LIMS3, and LIMS3-LOC440895 was also observed. Correlating microarray data with the mosaic karyotype, the marker chromosome was identified as mosaic isochromosome 18p and was found to be 32,600. kbp in size. Baby resembled clinical characteristics of trisomy chromosome 18p, isochromosome 18p and trisomy chromosome 18. The present study suggested that deletion of evolutionarily conserved developmental genes (RGPD5, RGPD and LIMS3) in the 2q13 region might have contributed to more severity in phenotype as compared to so far such reported cases of 18p trisomy's, as these are involved in nuclear-cytoplasm trafficking, signaling for tissue patterning and differentiation. © 2015 Elsevier B.V.
Comparative fluorescence in situ hybridisation (FISH) mapping of class I and II MHC genes on Bos indicus and Bubalus bubalis chromosomes
(Indian Council of Agricultural Research, 2015) S.M.K. Karthickeyan; Amit Kumar Rai; K.G. Tirumurugaan; P. Kanakaraj
[No abstract available]
Hepatocellular carcinoma presenting as neutrophilic leukaemoid reaction - A rare entity
(Indian Medical Association, 2007) Vijai Tilak; R.A.I. Madhukar; V.P. Singh; Amit Kumar Rai; Rajiva Raman
Leukaemoid reaction is a rare, growth factor-driven, paraneoplastic manifestation of hepatocellular carcinoma. It may masquerade as the neutrophilic chronic myeloid leukaemia or as chronic neutrophilic leukaemia. A 52-year-old male presented with hepatosplenomegaly and severe leucocytosis. He had progressive leucocytosis, neutrophil alkaline phosphatase score elevated, liver function tests altered. FNAC from the mass in the liver revealed features of moderately differentiated hepatocellular carcinoma. The patient deteriorated within two weeks and died thereafter.
Identification of Novel Nucleotide Changes in INHBB Gene by Mutation Screening in Females with Ovarian Dysgenesis: A Case Report
(Avicenna Research Institute, 2021) Pooja Chauhan; Anjali Rani; Amit Kumar Rai
Background: Inhibin and activin regulate the follicle stimulating hormone level by their antagonistic actions and thus have been considered as strong candidate genes in the etiology of ovarian dysgenesis. In the present study, two cases of primary amenorrhea with poorly developed secondary sexual characteristics were reported. The purpose of the study was to identify mutations in candidate gene. Case Presentation: In this paper, clinical, genetic, biochemical, and molecular findings in female patients with primary amenorrhea were reported. Whole blood culture and G-banding for karyotyping, sequencing, and in silico analysis were performed following the standard protocol. Both cases were cytogenetically characterized as normal females with 46,XX, chromosome constitution. Hormonal assay revealed high level of follicle stimulating hormone and luteinizing hormone. DNA sequence analysis of inhibin identified two novel heterozygous missense mutations of c.975T>A and c.1156G>A which were translated into p.I310N and p.D386N, respectively. These identified positions were highly conserved across species during evolution. In silico prediction tools, intramolecular hydrogen bonding pattern and hydrophobicity analysis, revealed deleterious effect of p.I310N and neutral effect of p.D386N mutation. Conclusion: Our observation suggested that identified novel mutation in the first case might be the reason for ovarian dysgenesis and provides additional support to the previously reported genotype-phenotype correlations. © 2021 Avicenna Research Institute. All rights reserved.
Localization of MHC class I and II genes in zebu and crossbred cattle
(2007) S.M.K. Karthickeyan; Amit Kumar Rai; K.G. Tirumurugaan; P. Kanakaraj
Two probes, pBoLA (bovine lymphocyte antigen; class I) and DRA (class II) were localized to Bos indicus chromosome 23 between bands 15 and 22 (23q15-22) and further confirmed the close linkage of MHC genes (class I and class II). Tyramide signal amplification was carried out to localize the genes in the small acrocentric chromosome for better visualization and photography in an epifluorescent microscope without any special device fitted for software analysis and signal magnification. The gene localization in Bos indicus cattle is identical to the localization of this gene in Bos taurus cattle.
Maternal risk for down syndrome and polymorphisms in the promoter region of the DNMT3B gene: A case-control study
(John Wiley and Sons Inc, 2015) Sushil Kumar Jaiswal; Krishna Kishore Sukla; Neha Kumari; Anjali Rani Lakhotia; Ashok Kumar; Amit Kumar Rai
Background: Epigenetic changes leading to improper methylation of the pericentromeric region of chromosome 21 may contribute to the nondisjunction of this chromosome. Polymorphisms in the DNA Methyltransferase 3B (DNMT3B) gene, one of the crucial gene of the folate metabolism, affects the activity of the enzyme and increases the susceptibility of nondisjunction in mothers of Down syndrome children (MDS). Methods: Considering this hypothesis we investigated the association of single nucleotide polymorphisms in the promoter region of the DNMT3B gene (rs1569686 -579G>T; rs2424913 -149C>T) with a predisposition of mothers to deliver a Down syndrome (DS) child. The study was performed on DNA samples from 150 MDS and 172 control mothers. Transmission disequilibrium tests were performed on 103 DS trio families. Genotyping was done using a polymerase chain reaction-restriction fragment length polymorphism method. Results: With respect to the single nucleotide polymorphisms studied, no significant difference was observed in the genotypes and alleles frequency distributions between MDS and control mothers. The frequency of the DNMT3B-579G allele was, respectively, 0.34 in MDS and 0.33 in control mothers whereas the frequency of the DNMT3B-149C allele was respectively 0.31 in MDS and 0.26 in control mothers. No significant deviation in genotypic combinations as well as in transmission disequilibrium tests analysis was observed. However, a strong linkage disequilibrium was observed with significant differences in the distribution of G-T and G-C haplotypes among case and control mothers. Conclusion: Although the above studied polymorphisms of DNMT3B may not be an independent risk factor it might be possible that certain allelic combinations (G-T) are. This finding suggests that DNMT3B might be a maternal risk factor for DS in our Indian cohort. Replication studies are required to confirm these findings. © 2015 Wiley Periodicals, Inc.
Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome
(Springer New York LLC, 2016) Pooja Chauhan; Sushil Kumar Jaiswal; Anjali Rani Lakhotia; Amit Kumar Rai
Purpose: In the present study, we reported two cases of TS with mosaic ring X chromosome showing common clinical characteristics of TS like growth retardation and ovarian dysfunction. The purpose of the present study was to cytogenetically characterize both cases. Methods: Whole blood culture and G-banding were performed for karyotyping the cases following standard protocol. Origin of the ring chromosome and degree of mosaicism were further determined by fluorescence in situ hybridization (FISH). Breakpoints and loss of genetic material in formation of different ring X chromosomes r (X) in cases were determined with the help of cytogenetic microarray. Results: Cases 1 and 2 with ring chromosome were cytogenetically characterized as 45, X [114]/46Xr (X) (p22.11q21.32) [116] and 45, X [170]/46, Xr (X) (p22.2q21.33) [92], respectively. Sizes of these ring X chromosomes were found to be ~75 and ~95 Mb in cases 1 and 2, respectively, using visual estimation as part of cytogenetic observation. In both cases, we observed breakpoints on Xq chromosome were within relatively narrow region between Xq21.33 and Xq22.1 compared to regions in previously reported cases associated with ovarian dysgenesis. Conclusions: Our observation agrees with the fact that despite of large heterogeneity, severity of the cases with intact X-inactive specific transcript (XIST) is dependent on degree of mosaicism and extent of Xq deletion having crucial genes involved directly or indirectly in various physiological involving ovarian cyclicity. © 2016, Springer Science+Business Media New York.
Molecular Cytogenetic Classification of down Syndrome and Screening of Somatic Aneuploidy in Mothers
(S. Karger AG, 2021) Sushil Kumar Jaiswal; Ashok Kumar; Amit Kumar Rai
Down Syndrome (DS) caused by trisomy 21 results in various congenital and developmental complications in children. It is crucial to cytogenetically diagnose the DS cases early for their proper health management and to reduce the risk of further DS childbirths in mothers. In this study, we performed a cytogenetic analysis of 436 suspected DS cases using karyotyping and fluorescent in situ hybridization. We detected free trisomies (95.3%), robertsonian translocations (2.4%), isochromosomes (0.6%), and mosaics (1.2%). We observed a slightly higher incidence of DS childbirth in younger mothers compared to mothers with advanced age. We compared the somatic aneuploidy in peripheral blood of mothers having DS children (MDS) and control mothers (CM) to identify biomarkers for predicting the risk for DS childbirths. No significant difference was observed. After induced demethylation in peripheral blood cells, we did not observe a significant difference in the frequency of aneuploidy between MDS and CM. In conclusion, free trisomy 21 is the most common type of chromosomal abnormality in DS. A small number of DS cases have translocations and mosaicism of chromosome 21. Additionally, somatic aneuploidy in the peripheral blood from the mother is not an effective marker to predict DS childbirths. © 2021 S. Karger AG, Basel.
MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers
(2006) Amit Kumar Rai; Satya Singh; Stuti Mehta; Ashok Kumar; L.K. Pandey; Rajiva Raman
Down's syndrome (DS), a chromosomal disorder due to trisomy 21, results mostly from nondisjunction in maternal meiosis. The present case-control study examined the association of genetic polymorphisms with predisposition to nondisjunction. Two common polymorphisms (SNPs), C677T and A1298C, in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene involved in folate metabolism, are known to lower the activity of this enzyme. Three hundred and fourteen mothers (with DS children and controls), mostly from the eastern states of India, were genotyped for the two above-mentioned SNPs. Significant association with both of these SNPs were detected, more specifically, in the mothers of DS children homozygous for the polymorphic alleles 677 T and 1298 C. The relative risk of T (C677T) and C (A1298C) homozygosity in mothers for DS-affected pregnancy was 7 (OR 7.67, 95% CI 1.67-35.08, P = 0.003) and 4 (OR 4.40, 95% CI 1.45-13.26, P = 0.008), respectively. Moreover, all 677TT mothers studied were less than 31 years of age, whereas no correlation with maternal age was observed for A1298C genotypes. Interestingly, all of the young 677TT mothers had either a first- or secondborn child with DS. Thus, this study reports that young Indian mothers with TT genotypes are genetically predisposed to nondisjunction due to abnormal folate metabolism. © The Japan Society of Human Genetics and Springer-Verlag 2006.
Overlap of patau and pierre robin syndromes along with abnormal metabolism: An interesting case study
(Springer, 2014) Sushil Kumar Jaiswal; Krishna Kishore Sukla; Vineeta Gupta; Amit Kumar Rai
[No abstract available]