Research Interests: Bioinformatics, Endocrinology, Genetics, Obesity, Biology, and 13 moreMedicine, Insulin Resistance, Internal Medicine, Hyperinsulinemia, Gene, Anovulation, Clinical Sciences, Genotype, Single Nucleotide Polymorphism, Public health systems and services research, Hyperandrogenism, Paediatrics and reproductive medicine, and Polycystic ovary
Research Interests:
e18576 Background: We prospectively studied 90 patients of multiple myeloma for the presence of translocations involving IgH (14q32) locus, del 13q14 and presence of numerical chromosomal abnormalities. An attempt was made to correlate... more
e18576 Background: We prospectively studied 90 patients of multiple myeloma for the presence of translocations involving IgH (14q32) locus, del 13q14 and presence of numerical chromosomal abnormalities. An attempt was made to correlate their effect on outcome and to formulate a risk scoring system. METHODS Purified bone marrow plasma cells, using magnetic activated cell sorter (MACS) with CD 138 micro beads were used. Fluorescent in situ Hybridization was used to detect IgH (14q32) translocations and del 13q14, while numerical chromosomal abnormalities were detected by conventional cytogenetics. RESULTS Patients' median age was 55 years (range, 34 to 75 years) and 67 were males (M: F: 2.9: 1). 24 patients had International staging system (ISS) stage I, stage II- 46 and 20 patients had stage III. On conventional cytogenetics metaphases were obtained in 53 (58%) patients; with numerical chromosomal abnormalities in 21 of 53 (40%), these included- hyperdiploid in 16 and hypodiploid-5. Remaining patients had normal metaphases. del 13q14 and t(14q32) were present in 51 (56%) and 75 (83%) patients, respectively. 65/90 (72%) patients received therapy with novel molecules and were evaluated using EBMT response criteria. Absence of del 13q14 was associated with higher response rate (23/26 vs 26/39, P <0.04) and better overall survival (79% vs 67%, p =0.07) and event free survival (70% vs 37%, p <0.03) at two years. Based on presence (1) or absence (0) of del 13q14 and ISS (I=0 vs II=0.5 vs III=1), a risk scoring model was obtained. 69% of the patients belonged to low risk category (risk score ≤1) and 31% were in high risk (risk score >1). Patients belonging to low risk had a higher response (91% vs 40%, p<.0001), better overall (77% vs 61%, p<.01) and event free (58% vs 32%, p<.01) survival at two years compared to patients with high risk. CONCLUSIONS del 13q14 and International staging system (ISS) are two important parameters and could be used to prognosticate patients at diagnosis.
Research Interests:
Background:Inflammatory responses within the peritoneal cavity may result in endometrial dysfunction in women with endometriosis. The true causes of this disease remain poorly understood. It is hypothesized that downstream toll-like... more
Background:Inflammatory responses within the peritoneal cavity may result in endometrial dysfunction in women with endometriosis. The true causes of this disease remain poorly understood. It is hypothesized that downstream toll-like receptors (TLRs) inflammatory cytokines in response to pathogens may be associated with endometriosis. So, this study was aimed at evaluating the expression of TLRs signaling and endometriosis-associated inflammatory responses.Methods:Totally, 20 infertile endometriosis patients and 20 normal women undergoing controlled ovarian stimulation were enrolled. The cellular pellet and supernatant were obtained by centrifugation of follicular fluid (FF). Evaluation of TLRs and their signaling pathway gene expression was performed on cellular pellets using quantitative-PCR. The supernatant was used for determination of cytokine protein expression by ELISA. The results are expressed as mean±SEM and a p<0.05 was considered statistically significant.Results:Quantitative-PCR analysis suggested that TLR1, 5, 6, 7, 8, 10, MYD88, NF-ĸB, IL-10 and TGF-β genes expression significantly increased in patients compared to the control group (p<0.05). TLR3, 9, INF-β genes expression was significantly lower in endometriosis than control group (p<0.05). There was no significant difference in the expression of TLR2, TLR4, TIRAP, TRIF, TRAM, and IRF3 between two groups. Also, significant increase in the levels of IL-6, IL-8 and MIF protein in FF of endometriosis group was detected in comparison with normal women (p<0.05).Conclusion:The expression of TLR downstream signaling in the follicular cells can initiate inflammatory responses and changes in the FF cytokine profile which in turn may induce endometriosis and infertility disorder.
Research Interests:
: Tumor necrosis factor-alpha (TNF-α) is a pro-inflammatory cytokine implicated in various physiological and pathological events. Carnitine is a quaternary amine which plays a significant role in fatty acid oxidation and is reported to... more
: Tumor necrosis factor-alpha (TNF-α) is a pro-inflammatory cytokine implicated in various physiological and pathological events. Carnitine is a quaternary amine which plays a significant role in fatty acid oxidation and is reported to produce antiapoptotic effects. Aim of this work was to study the effect of L-Carnitine (LC) on TNF-α induced apoptosis in mice oocytes. : Oocytes were isolated from super ovulated Swiss Albino mice and treated with different concentrations of TNF-α (0.1ng/ml, 1ng/ml, 10ng/ml, 100ng/ml) and LC (0.1mg/ml, 0.3mg/ml, 0.5mg/ml, 1.0 mg/ml). TUNEL Assay was done for the biochemical assessment of apoptosis.: Apoptotic indices with different doses of TNF-α (0.1ng/ml, 1ng/ml, 10ng/ml, 100 ng/ml) were 28.5%, 71.4%, 100%, 42.8% respectively. The concentration of TNF-α that produced the highest apoptotic index was 10ng/ml. LC alone in different doses (0.1mg/ml, 0.3mg/ml, 0.5mg/ml, 1.0 mg/ml) did not elicit any apoptotic signal. Further LC was added in different doses with 10ng/ml TNF-α to study the rate of apoptosis in mice oocytes. Apoptotic index with 10 ng/ml TNF-α and different doses of LC (0.1mg/ml, 0.3mg/ml, 0.5mg/ml, 1 mg/ml) were 25%, 37.5%, 50%, 62.5% respectively. The concentration of LC that reduced the apoptotic index to the maximum was 0.1mg/ml.: Present study could demonstrate the anti-apoptotic effect of LC against apoptotic effects of TNF-α in mice oocytes. The study presents preliminary data suggesting a possible therapeutic role of LC in inflammatory etiologies such as ovarian failure.
Research Interests:
Research Interests:
Research Interests:
We report the seventh family of Fowler like syndrome (proliferative vasculopathy and hydrocephaly-hydrencephaly syndrome) and first case from Indian subcontinent. A 35 weeks extremely growth retarded male baby showed enlarged ventricles,... more
We report the seventh family of Fowler like syndrome (proliferative vasculopathy and hydrocephaly-hydrencephaly syndrome) and first case from Indian subcontinent. A 35 weeks extremely growth retarded male baby showed enlarged ventricles, thinned out cerebral cortex, diffuse intra-cerebral as well as peri-ventricular calcification, cerebral and corneal vasculopathy, unilateral micro-ophthalmia along with corneal opacity and depressed pulsatile anterior fontanel. This case was different from others concerning association with extreme oligohydramnios (in contrast to polyhydramnios), extreme growth restriction (in contrast to normal growth) and absence of gross muscle hypoplasia. No causative factors like TORCH infection, chromosomal abnormality or positive family history was noted in this case.
Research Interests:
Research Interests:
Meiotic segregation of chromosomes X,Y and 1 was analyzed by triple colour rapid fluorescent in situ hybridization (FISH) with directly labelled probes on 4506 non-decondensed and non-cleaned interphase spermatozoa from four healthy male... more
Meiotic segregation of chromosomes X,Y and 1 was analyzed by triple colour rapid fluorescent in situ hybridization (FISH) with directly labelled probes on 4506 non-decondensed and non-cleaned interphase spermatozoa from four healthy male donors to test the possibility of rapid sperm FISH by omitting the conventional sperm decondensation and cleaning steps. Only 0.15 per cent of sperms were without any signals which suggested high hybridization success. An abnormal number of signals was seen in 1.6 per cent of sperms. Chromosome specific as well as donor specific segregation error was seen similar to previous reports. There was a wide variation in the ratio of normal X and Y bearing sperm from donor to donor. This study indicated that for segregation studies sperm FISH can be carried out in three hours with directly labelled probes without the steps for separation of sperm from somatic cells (cleaning), sperm swelling and sperm DNA decondensation.
Research Interests:
Prader Willi syndrome (PWS) most commonly is due to paternal micro-deletion of 15q11-q13. Although PWS is not a rare condition, mosaic micro-deletion cases are reported rarely. FISH using PWS micro-deletion probe is the most useful method... more
Prader Willi syndrome (PWS) most commonly is due to paternal micro-deletion of 15q11-q13. Although PWS is not a rare condition, mosaic micro-deletion cases are reported rarely. FISH using PWS micro-deletion probe is the most useful method to detect deletion including mosaicism. In this report we describe a female child with clinical features of atypical PWS and FISH analysis showing mosaicism for deletion in the PWS critical region. This is first mosaic deletion case of PWS from Indian subcontinent.
Research Interests:
We have evaluated the suitability of different formalin fixed paraffin embedded tissues i.e., brain, bone, liver and placenta, for fluorescence in situ hybridization (FISH) efficiency and chromosomal ploidy detection employing directly... more
We have evaluated the suitability of different formalin fixed paraffin embedded tissues i.e., brain, bone, liver and placenta, for fluorescence in situ hybridization (FISH) efficiency and chromosomal ploidy detection employing directly labelled repetitive sequence probes for chromosome X, Y and 1. The study was carried out on four foetal autopsy specimens. Cells from 50 mu thick tissue sections were dissociated before performing mono and multicolour FISH with directly labelled probes. Hybridization efficiency was maximum with brain tissue (81, 55 and 24% for mono, dual and triple colour FISH, respectively), followed by bone (45 and 34% for mono and dual colour FISH), liver (38, 19 and 0% for mono, dual and triple colour FISH) and placenta (14, 5 and 0% for mono, dual and triple colour FISH). These results indicated that brain is the most efficient material followed by bone, liver placenta for chromosome ploidy detection by FISH in formalin fixed tissues.
Research Interests:
Research Interests:
ABSTRACT Disorder of sex development is defined as developmental abnormality in which determination and/or differentiation of chromosomal, gonadal or phenotypic sex is abnormal. This is a common disorder and a precise diagnosis is very... more
ABSTRACT Disorder of sex development is defined as developmental abnormality in which determination and/or differentiation of chromosomal, gonadal or phenotypic sex is abnormal. This is a common disorder and a precise diagnosis is very important for right management to prevent future psychosexual problems. The aim of this study was to evaluate the clinical features documented, investigative procedures followed and corrective interventions adopted during the course of the study and recommend how these cases could be managed satisfactorily without high end investigative support. This study describes the spectrum of cases of disorder of sex development in a referral tertiary care hospital in North India. The medical records of 63 patients presenting with disorder of sex development over a period of three years were reviewed. On the basis of meticulous clinical evaluation and minimal investigations (chromosomal, hormonal, biochemical, radiological, genitoscopy and laparoscopy/laparotomy/ gonadal biopsy) cases were categorized as 46,XY disorder of sex development (40 cases/63.5%), 46,XX disorder of sex development (14 cases/22.2%) and gonadal differentiation disorder of sex development (ovotesticular disorder of sex development &amp; gonadal dysgenesis; 9 cases/14.3%). Ambiguous genitalia/precocious puberty was the main presentation in 46,XX disorder of sex development whereas ambiguous genitalia/under development of breast or breast development at puberty was the main presentation in 46,XY disorder of sex development. Ambiguous genitalia was the major presenting complaint of cases of gonadal differentiation disorder of sex development. There were three peaks of age at presentation; infancy, childhood and postpubertal period. Mullerian ducts remnants were found in nine (22.5%) of 46,XY disorder of sex development. Male like external genitalia with bilateral cryptorchidism were also evident with 46,XX disorder of sex development. Sex assignment/reassignment was based mainly on virilization of external genitalia (phallus size) and testosterone response (excepting 46,XX disorder of sex development). The study concludes that with meticulous clinical evaluation and base line investigations cases of disorder of sex development can be managed well
Research Interests:
The majority of second‐trimester partial moles are found in association with triploidy. Rarely are they associated with tetraploidy or other aneuploidies and, to our knowledge, this is the first reported case of the prenatal diagnosis of... more
The majority of second‐trimester partial moles are found in association with triploidy. Rarely are they associated with tetraploidy or other aneuploidies and, to our knowledge, this is the first reported case of the prenatal diagnosis of partial mole in a pregnancy presenting with trisomy. The patient was referred at 21 weeks of gestation after a routine ultrasound examination had shown fetal and placental features suggesting a partial mole triploidy. Owing to the severe structural malformations and poor prognosis, the parents requested termination. Prenatal and postnatal cytogenetic investigations demonstrated an additional chromosome 13. Histopathological examination of the placenta showed focal areas of villous edema but no evidence of trophoblastic dysplasia. The maternal serum human chorionic gonadotropin level was within the normal range at all times. This case shows that trisomy can resemble a triploid partial mole in utero without the potential long‐term risk to the mother of persisting trophoblastic disease, as villous molar changes can obviously develop without trophoblastic dysplasia. Copyright © 1998 International Society of Ultrasound in Obstetrics and Gynecology
Research Interests:
Research Interests:
Increasing HER-2/neu resistance in gastric carcinoma has encouraged search for new biomarkers for targeted therapy. Cellular mesenchymal epithelial transition (C-MET) is one such tyrosine kinase inhibitor proposed for personalized salvage... more
Increasing HER-2/neu resistance in gastric carcinoma has encouraged search for new biomarkers for targeted therapy. Cellular mesenchymal epithelial transition (C-MET) is one such tyrosine kinase inhibitor proposed for personalized salvage treatment. We determined frequency of C-MET gene copy number variation (CNV) by Fluorescent in-situ hybridization (FISH) in gastric adenocarcinoma (GAC) and sought its correlation with conventional clinicopathologic parameters. Dual-coloured FISH was done on 32 GAC cases. C-MET gene and centromere 7 signals were counted under fluorescent microscope and ratio was calculated for each case. Correlation between C-MET CNV and conventional clinic-pathologic parameters was done by Fischer exact test. CNV was identified in the form of amplification and polysomy (3.1% each) and associated with poorer prognostic parameters. Our pilot study highlights limited subset of patients that may benefit from anti-C-MET-targeted therapy and thus could be a novel biomarker for targeted intervention in GAC.
Research Interests:
Research Interests:
Primary testicular failure and its subtypes Etiology Biomarkers Principles of diagnostic evaluation and management
Research Interests:
Sertoli cell only syndrome (SCOS) is characterized by complete absence of germ cells in seminiferous tubules of testis. SCOS is multifactorial but genetic factor play a major role in pathogenesis of the disorder with idiopathic origin.... more
Sertoli cell only syndrome (SCOS) is characterized by complete absence of germ cells in seminiferous tubules of testis. SCOS is multifactorial but genetic factor play a major role in pathogenesis of the disorder with idiopathic origin. Genetic factor majorly includes sex chromosomal aneuploidy and Yq Microdeletion. But a large number of cases are still idiopathic. The study aimed to evaluate the genomic imbalances (CNVs and LOH) in idiopathic SCOS patients. The study is based on 28 apparent idiopathic SCOS cases and 10 controls. Molecular cytogenetic techniques viz., FISH, STS-Multiplex PCR and Affymetrix cytoscan microarray (750K) were used. The microarray screened whole genomic imbalances in DNA from peripheral blood for 25 cases (excluded Klinefelter syndrome patients) and testicular FNAC sample for 2 cases. High FSH and low Inhibin B were observed in cases than controls groups. Four cases of sex chromosomal abnormality (i.e., three non-mosaic 47,XXY males and one non-mosaic 46,XX male) as well as four cases of Yq microdeletion (i.e., three cases with AZFc deletion and one case with complete AZFa, b and c deletion) were identified. Microarray detected unbalanced translocation of two segments of Y-chromosome i.e., Yp11.31-p11.2 (∼4.o mb region, involving SRY) and Yp11.2 (∼2.5 mb region) on X-chromosome in XX male. Also, loss of segment on same X-chromosome involving PAR1 region was identified. We have identified both autosomal and sex chromosomal CNVs (recurrent as well as private) involving candidate genes like SYCE1, ZFPM2, SRPK1, DAZ1, BPY2, HSFY1, VCY1 etc. All these CNVs possibly associated with SCOS pathogenesis. CNVs identified in cases that were already reported as pathogenic variant in clinical database DECIPHER. Microarray also detected many LOH (all autosomal, >3.0 mb size) that covered genes with spermatogenesis related function. The mechanism of action of LOH in pathogenesis of SCOS is still unravelled. CNVs and LOH related to spermatogenesis identified from two different sample types (blood vs. testicular tissue) were discordant. This study should be extended for larger cohort of patients.
Research Interests:
Research Interests:
Structure of the Y chromosome Evolution of Y chromosome from autosomes Genes on human Y chromosome SRY gene and sex determination Azoospermia factors Copy number variations Functions Y chromosome-linked disorders
Research Interests:
Research Interests:
Research Interests:
Research Interests:
Genetics and genomics play a role in the causation of various human diseases. A large number of human reproductive disorders also arise as a result of genetic and genomic abnormalities. Reproductive disorders associated with predominantly... more
Genetics and genomics play a role in the causation of various human diseases. A large number of human reproductive disorders also arise as a result of genetic and genomic abnormalities. Reproductive disorders associated with predominantly genetics and genomic abnormalities are infertility, early pregnancy loss, congenital malformations, difference or disorder of sex development and reproductive cancers. The genetic etiology of human reproductive disorders is increasing with improved molecular biology techniques such as DNA microarray and next-generation sequencing. Infertility is one of the significant areas of reproductive disorders where genetics/genomics plays a substantial role and may result from chromosomal, copy number variation, Yq &amp; pseudo autosomal region microdeletion/microduplication, gene mutation (monogenic, oligogenic, polygenic), multifactorial, epigenetic, mitochondrial, etc. abnormalities. All idiopathic infertile couples should be screened for genetic disorders before assisted reproduction to prevent transmission, if any, in offspring. Pregnancy wastage in early pregnancy is very high (about 70%) and is mainly related to chromosome number, copy number variation, and some monogenic or epigenetic abnormalities. Therefore, all early pregnancy loss cases should also be tested for genetic causes. Congenital malformations are structural defects in embryo, fetus, or newborns and affect about 3% (major malformations) of all births. The malformations could be due to the abnormalities of chromosomes, copy number variation, monogenic, oligogenic, multifactorial, or environmental. Array CGH &amp;/or NGS should be used as the first step to screen congenital malformations. Differences/disorder of sex development is a developmental defect in which the determination and/or differentiation of chromosomal, gonadal, or phenotypic/anatomic sex is abnormal. It is a common disorder and is primarily related to genetic abnormalities. Therefore, a precise diagnosis, mainly through an array CGH and/or NGS, is crucial for the proper management to prevent future psychosexual problems and another birth with the disorder. Cancer is a genomic disorder characterized by genomic instability (due to a defect in DNA repair mechanism), uncontrolled replication (due to lack of response to inhibitory factors/loss of contact inhibition), neo-angiogenesis, invasion and metastasis. All cancer cases should be investigated for genomic markers (both hereditary and somatic) for precise diagnosis, prognosis, and genetic counseling. In this review, we will try to evaluate the role of genetics and genomics in the above-mentioned reproductive disorders, along with genetic &amp; genomic techniques used and reproductive counseling in addition to our experiences.
Research Interests:
Background: Polycystic ovary syndrome (PCOS) is a common endocrinopathy whose heterogeneous genetic basis results in a variable clinical presentation. One of the main clinical features of PCOS is hyperandrogenism which occurs due to... more
Background: Polycystic ovary syndrome (PCOS) is a common endocrinopathy
whose heterogeneous genetic basis results in a variable clinical presentation. One
of the main clinical features of PCOS is hyperandrogenism which occurs due to
dysregulation of ovarian and adrenal steroidogenesis. Aims: This study aimed
to investigate potentially pathogenic variants in steroidogenic genes associated
with PCOS. Settings and Design: This was a hospital‑based observational study.
Materials and Methods: We recruited 51 women who presented with PCOS.
Fasting blood samples were drawn from the participants and their whole‑exome
sequencing analysis was carried out to look for pathogenic variants involved in
steroidogenic pathways. The variants were predicted for their probable deleterious
effects on proteins through in silico prediction tools. We evaluated the variants
with respect to the hormonal characteristics and clinical outcomes of the
patients. Statistical Analysis Used: All variables were analysed using GraphPad
Prism 8. Kruskal–Wallis t‑test and Fisher’s exact test were used to compare
clinical parameters and frequency differences among PCOS patients with and
without variants. Results: The data presented here reveal eight heterozygous
exonic variants, namely CYP21A2 (p.Ala392Thr, p.Gln319Ter and p.I143N),
steroidogenic acute regulatory (p.Arg53 Leu), AKR1C3 (p.Phe205Val), P450
oxidoreductase (p.Val334Ile and p.Val251Met) and HSD17B6 (p.Gly40Ser), of
which three were pathogenic, and four variants of uncertain significance in 8 out
of 51 patients (15.68%). The identified variants were predicted to cause protein
destabilisation, thus likely contributing to the pathogenesis of PCOS. Some of the
variants showed significant differences between PCOS patients and population
database (P < 0.05). Conclusion: The results of this study add to the mutational
spectrum of steroidogenic genes and their association with PCOS.
whose heterogeneous genetic basis results in a variable clinical presentation. One
of the main clinical features of PCOS is hyperandrogenism which occurs due to
dysregulation of ovarian and adrenal steroidogenesis. Aims: This study aimed
to investigate potentially pathogenic variants in steroidogenic genes associated
with PCOS. Settings and Design: This was a hospital‑based observational study.
Materials and Methods: We recruited 51 women who presented with PCOS.
Fasting blood samples were drawn from the participants and their whole‑exome
sequencing analysis was carried out to look for pathogenic variants involved in
steroidogenic pathways. The variants were predicted for their probable deleterious
effects on proteins through in silico prediction tools. We evaluated the variants
with respect to the hormonal characteristics and clinical outcomes of the
patients. Statistical Analysis Used: All variables were analysed using GraphPad
Prism 8. Kruskal–Wallis t‑test and Fisher’s exact test were used to compare
clinical parameters and frequency differences among PCOS patients with and
without variants. Results: The data presented here reveal eight heterozygous
exonic variants, namely CYP21A2 (p.Ala392Thr, p.Gln319Ter and p.I143N),
steroidogenic acute regulatory (p.Arg53 Leu), AKR1C3 (p.Phe205Val), P450
oxidoreductase (p.Val334Ile and p.Val251Met) and HSD17B6 (p.Gly40Ser), of
which three were pathogenic, and four variants of uncertain significance in 8 out
of 51 patients (15.68%). The identified variants were predicted to cause protein
destabilisation, thus likely contributing to the pathogenesis of PCOS. Some of the
variants showed significant differences between PCOS patients and population
database (P < 0.05). Conclusion: The results of this study add to the mutational
spectrum of steroidogenic genes and their association with PCOS.
Research Interests:
Music in medicine is in use in various medical areas like neurological disorders, developmental abnormalities, psychiatric disorders, addictive disorders, terminal disorders, etc besides perioperative care. Music in perioperative care is... more
Music in medicine is in use in various medical areas like neurological disorders, developmental abnormalities, psychiatric disorders, addictive disorders, terminal disorders, etc besides perioperative care. Music in perioperative care is aimed at reducing anxiety, stress, and fear besides decreasing postoperative pain. The authors (first two) have experience in the use of pre-recorded music medicine in perioperative patient care. Preoperative music is mainly used to reduce patients’ anxiety, stress, and fear. The use of intraoperative music is controversial in surgical procedures under general anesthesia. Postoperative music, in general, is beneficial for pain management. This write-up provides an overview of published information on music in medicine, including historical and in particular perioperative care in anesthesia practice including use in cesarean section delivery. We searched PubMed and PubMed Central besides google search on “music in medicine” up to March 2022. There wa...
Research Interests:
Research Interests:
Research Interests:
Research Interests:
Research Interests:
Research Interests:
Abstract 4987 Purpose: We prospectively studied patients of multiple myeloma (MM) for presence of t(14q32), and del13q14 on FISH and numerical chromosomal abnormalities on conventional cytogenetics(CC). Methods: Between February 2007 and... more
Abstract 4987 Purpose: We prospectively studied patients of multiple myeloma (MM) for presence of t(14q32), and del13q14 on FISH and numerical chromosomal abnormalities on conventional cytogenetics(CC). Methods: Between February 2007 and June 2009, 90 previously untreated patients of MM were enrolled,…
Research Interests:
Transcervical cell (TCC) samples were retrieved between 6 and 15 weeks of pregnancy by a simple and rapid method of aspiration. The presence of fetal cells was investigated by polymerase chain reaction (PCR) assays for the amplification... more
Transcervical cell (TCC) samples were retrieved between 6 and 15 weeks of pregnancy by a simple and rapid method of aspiration. The presence of fetal cells was investigated by polymerase chain reaction (PCR) assays for the amplification of DNA sequences from chromosomes X and Y, and of polymorphic short tandem repeats (STR) specific for chromosomes 21 and 18. As judged by the detection of Y-derived PCR products, fetal cells were present in 68% of TCC samples collected from mothers with male fetuses. Paternally inherited fetal STR markers were detected in 29.6% of the tested TCC samples, while a further 44% of samples were non-informative, as the fetus had inherited markers similar to those of the mother.
Research Interests:
Varying degrees of necrozoospermia are common findings in cases of male sub-fertility; however, it is rare to find persistent and 100 % necrozoospermia. A case of persistent 100 % necrozoospermia was presented in this paper, where... more
Varying degrees of necrozoospermia are common findings in cases of male sub-fertility; however, it is rare to find persistent and 100 % necrozoospermia. A case of persistent 100 % necrozoospermia was presented in this paper, where aneuploidy analysis was carried out on sperm. No known associations like thyrotoxicosis, genital infection, spinal injury and diabetes were found. Sperm fluorescent in situ hybridization (FISH) was carried out to evaluate sperm aneuploidy for chromosome 1, 9, 12, 13, 16, 18, 21, X and Y and did not show any excess of aneuploidy over controls. To the best of our knowledge, this is the first attempt on meiotic segregation analysis on 100 % necrozoospermic patients.
Research Interests:
Research Interests:
Research Interests:
Research Interests: Genetics, Pediatrics, Biology, Medicine, Cardiac Surgery, and 15 moreIndia, Congenital Heart Defects, Humans, Child, Fluorescence in situ hybridization, Female, Male, Research article, Infant, Karyotyping, Clinical Sciences, Prevalence, Fluorescent in situ hybridization, Child preschool, and Chromosome deletion
Research Interests:
Chromosome aneuploidy plays an important role in infertility, early pregnancy wastage and perinatal mortality. Cytogenetic... more
Chromosome aneuploidy plays an important role in infertility, early pregnancy wastage and perinatal mortality. Cytogenetic &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp; fluorescent in situ hybridization (FISH) studies on developmentally arrested and morphologically poor embryo have shown high frequency of chromosomal abnormality and mosaicism. In this study, we attempted to evaluate chromosome aneuploidy and mosaicism on human embryos through the use of FISH. Sixty one grade IV un-transferable embryos were obtained from 25 patients undergoing in vitro fertilization (IVF). Forty six embryos were studied by FISH; 15 were lost during transport and handling. FISH probes (non-commercial) for centromeres of chromosome X, Y, 1 and 18 were used for the study. Zona of embryos were dissolved in 0.01N HCl containing 0.1 per cent Tween 20 for 2-3 min. Interpretable FISH results were obtained in 24 embryos. Nineteen embryos (79.2%) were disomic (normal) for chromosome X/Y or 1/18 and five (20.8%) were abnormal. Among five abnormal embryos two were triploidy (from same patient), one was double mosaic aneuploidy, one was mosaic aneuploidy and one was trisomy for sex chromosome (XXY). There was eleven embryos with presence of Y chromosome i.e., male and three embryos were female. Skewing of sex ratio (11M vs. 3F) and low chromosome aneuploidy were observed in this preliminary study, however, it will be premature to conclude as the numbers of embryos studied were limited and so were the numbers of FISH probes used.
Research Interests: Andrology, Biology, Medicine, Embryo, Pregnancy, and 13 moreHumans, Fluorescence in situ hybridization, Female, Male, Aneuploidy, Preimplantation genetic diagnosis, Trisomy 21, Chromosome, Fertilization in Vitro, Mosaicism, Pilot Projects, Medical and Health Sciences, and Tissue and organ procurement
Research Interests:
Research Interests:
Research Interests:
Research Interests: Pathology, Cognitive Science, Immunohistochemistry, Adolescent, Comparative Study, and 15 moreMedicine, In Situ Hybridization, Humans, Fluorescence in situ hybridization, Female, Male, Astrocyte, Clinical Sciences, Middle Aged, Adult, Glial Fibrillary Acidic Protein, Astrocytoma, Neurosciences, Brain Neoplasms, and Oligodendroglioma
ObjectiveCervical cancer screening by primary human papilloma virus detection and cytology is fraught with low specificity and variable sensitivity, respectively. Cytology‐histology correlation remains modest. Biomarkers associated with... more
ObjectiveCervical cancer screening by primary human papilloma virus detection and cytology is fraught with low specificity and variable sensitivity, respectively. Cytology‐histology correlation remains modest. Biomarkers associated with early genetic events in cervical squamous carcinogenesis and detectable in cytology material are likely to be relevant. Human telomerase RNA component (hTERC) gene overexpression and aneuploidy are promising candidates in view of their reported early and consistent association with cervical squamous oncogenesis.MethodsWe analysed hTERC gene expression and chromosome 7 ploidy by fluorescent in‐situ hybridisation (FISH) in 50 women with cytological precursor squamous intraepithelial lesions and available histology outcomes. Results were expressed as percentages of cells showing ≥3 signals, mean signals/nucleus, and maximum amplitude across various cytology and histology categories. Proportions of positive cases were calculated from threshold values der...
Research Interests:
Research Interests:
Skewing of the sex ratio towards males occurs in humans. The possible explanation for excess male births could be a preference for Y-bearing sperm at fertilization and/or selective elimination of female embryos during pregnancy. In this... more
Skewing of the sex ratio towards males occurs in humans. The possible explanation for excess male births could be a preference for Y-bearing sperm at fertilization and/or selective elimination of female embryos during pregnancy. In this study, we have tested the sex ratio in the preimplantation embryo (2-3 cells stage/closest possible primary sex ratio), the post-implantation embryo (day E7.5), and at birth (secondary sex ratio) on a homogenous (genetic, environmental, and dietary) population of mice to ascertain the biological reason i.e., male preference at fertilization or female elimination during pregnancy or both. Primary sex ratio on early preimplantation embryos (2-3 cells stage) was studied on 598 embryos and secondary sex ratio (at birth) on 721 pups using PCR-based sexing (both X & Y chromosome-specific) besides sex ratio of 80 post-implantation embryos (day E7.5). We have also investigated whether the fat content (high & low) of the diet affects the sex ratio. We observed a skewed sex ratio (more female) in preimplantation embryos (0.436; 95 % CI 0.39, 0.48), and post-implantation embryos (0.462; 95 % CI 0.35, 0.57) but reverse skewing (more male) at birth (0.539; 95 % CI 0.5, 0.58). We also observed that high-fat diet promoted male sex ratio at birth (0.657; 95 % CI 0.57, 0.74) whereas a low-fat diet had the opposite effect (0.46; 95 % CI 0.36, 0.56) but no effect at fertilization (2-3 cells stage embryos). This indicates selective elimination of female embryo and fetus throughout pregnancy in mice, more so with a high-fat diet.
Research Interests:
Oxysterols play vital roles in the human body, ranging from cell cycle regulation and progression to dopaminergic neurogenesis. While naïve human mesenchymal stem cells (hMSCs) have been explored to have neurogenic effect, there is still... more
Oxysterols play vital roles in the human body, ranging from cell cycle regulation and progression to dopaminergic neurogenesis. While naïve human mesenchymal stem cells (hMSCs) have been explored to have neurogenic effect, there is still a grey area to explore their regenerative potential after in vitro differentiation. Hence, in the current study, we have investigated the neurogenic effect of 22(R)-hydroxycholesterol (22-HC) on hMSCs obtained from bone marrow, adipose tissue and dental pulp. Morphological and morphometric analysis revealed physical differentiation of stem cells into neuronal cells. Detailed characterization of differentiated cells affirmed generation of neuronal cells in culture. The percentage of generation of non-DA cells in the culture confirmed selective neurogenic potential of 22-HC. We substantiated the efficacy of these cells in neuro-regeneration by transplanting them into Parkinson’s disease Wistar rat model. MSCs from dental pulp had maximal regenerative ...