243 results match your criteria: "Hospital for Genetic Diseases[Affiliation]"

Recurrent pregnancy loss (RPL) is defined as the spontaneous loss of two or more pregnancies before reaching viability. Diagnosis for couples with RPL usually involves only the female partner. However, it is seen that male partners contribute equally to the occurrence of spontaneous abortions as the Y chromosome harbors several genes that control spermatogenesis and the quality of sperms.

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TGF-β1 promoter functional gene polymorphism -509 C/T in the maternal susceptibility to recurrent pregnancy loss in South Indian women.

Hum Immunol

November 2024

Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad 500 016, TS, India. Electronic address:

Transforming growth factor beta 1 (TGF-β1) is an anti-inflammatory pleiotropic cytokine that regulates implantation and adhesion of trophoblasts to the extracellular matrix. It regulates the balance of Th1/Th2 cytokines and the generation of anti-inflammatory peripheral regulatory T cells (FOXP3 + Tregs), which is necessary for a healthy pregnancy. Single nucleotide polymorphisms (SNP) affecting TGF-β1 production/function may predispose to pregnancy loss.

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Angiogenesis is one of the most important steps during pregnancy for placental and fetal development. Based on the hypothesis that vascular insufficiency and altered angiogenesis may lead to early pregnancy loss, the present study was aimed to understand the role of Vascular endothelial growth factor (VEGFA) and Placental growth factor (PLGF) gene expression in placental angiogenesis in the pathogenesis of Recurrent pregnancy loss (RPL). Gene expression analysis of VEGFA and PLGF was carried out in the placental tissue collected from 30 women with recurrent pregnancy loss and compared with the placenta obtained from 16 women with medically terminated pregnancy.

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Can circulating levels of transforming growth factor-β1 in early pregnancy serve as a predictive marker of unfavourable outcome?

Placenta

June 2023

Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, 500 016, TS, India. Electronic address:

Introduction: Transforming Growth Factor (TGF-β1) is an anti-inflammatory pleiotropic cytokine, crucial for maternal immune tolerance towards semi-allograft. It acts as a mediator in achieving successful implantation and maintenance of pregnancy.

Methods: A total of 300 samples; 150 with Recurrent Pregnancy Loss (RPL) and 150 with no pregnancy loss, in their first trimester were evaluated for circulating levels of TGF-β1 using Enzyme-Linked Immunosorbent Assay (ELISA).

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Structure-Based Virtual Screening, Molecular Docking, Molecular Dynamics Simulation of EGFR for the Clinical Treatment of Glioblastoma.

Appl Biochem Biotechnol

August 2023

Computer Aided Drug Designing and Molecular Modeling Lab, Department of Bioinformatics, Alagappa University, Karaikudi, 630003, Tamil Nadu, India.

Glioblastoma (GBM) is a WHO Grade IV tumor with poor visibility, a high risk of comorbidity, and exhibit limited treatment options. Resurfacing from second-rate glioma was originally classified as either mandatory or optional. Recent interest in personalized medicine has motivated research toward biomarker stratification-based individualized illness therapy.

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Evaluation of Prevalence of PCOS and Associated Depression, Nutrition, and Family History: A Questionnaire-based Assessment.

Indian J Endocrinol Metab

September 2022

Department of Clinical Genetics, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, Telangana, India.

Context: Polycystic ovarian syndrome (PCOS) is a common condition affecting women in the prime of reproductive age. The symptoms include infertility, amenorrhea, hirsutism, obesity, and androgenic alopecia. It is a socially stigmatizing condition and is often associated with depression, poor mental health, and quality of life.

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Article Synopsis
  • Pseudo-TORCH syndrome (PTS) is a rare group of disorders mimicking TORCH infections, occurring in about 1 in 1,000,000 cases, primarily identified through prenatal genetic testing.
  • A familial case from India showcased a novel mutation in the USP18 gene, with parents as asymptomatic carriers and their children inheriting a harmful mutation associated with PTS 2.
  • This case emphasizes the importance of carrier screening and genetic counseling for couples with a poor obstetric history to detect serious genetic conditions early.
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Epidermolysis bullosa (EB) is a group of rare inherited conditions that results in blistering of the skin and mucous membranes. Mutations in the PLEC gene cause epidermolysis bullosa simplex (EBS). Mutations in type VII collagen, encoded by COL7A1 lead to epidermolysis bullosa dystrophica (EBD).

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Green synthesis of nanoparticles is regarded as a safe and non-toxic process over conventional synthesis. Owing to the medicinal value of biologically derived biomolecules and utilizing them in synergy with nanoscience to offer more accurate therapeutic options to various diseases is an emerging field. One such study we present here with highlights of the synthesis and efficacy of biogenic silver nanoparticles produced from the extract of (accession number: ) as an antimicrobial, anti-cancerous and anti-angiogenic agent.

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Inflammation is of critical importance in successful implantation during pregnancy. However, the establishment of maternal immune tolerance towards semi-allograft foetus is more exigent and is achieved predominantly by human leukocyte antigen-G (HLA-G) isoforms with a special emphasis on soluble HLA-G5 (sHLA-G5). Constant inflammation and lack of resolution by anti-inflammatory milieu, due to aberrant expression of critical immunoregulatory molecules such as sHLA-G5 and dysfunctional T helper cells 1 and 2 (Th1-Th2) cytokine shift, can lead to adverse pregnancy outcomes including recurrent pregnancy loss (RPL).

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The study aimed to isolate and characterize zinc ionophores from Terminalia bellirica fruit using a liposome assay and test its utility in H9c2 rat cardiomyoblasts cells subjected to hypoxia/reoxygenation. Ethyl acetate extract that exhibited zinc ionophore activity was resolved to yield three polyphenols that were characterized as epicatechin-3-gallate (ECG), epigallocatechin-3-gallate (EGCG) and epigallocatechin (EGC) by nuclear magnetic resonance and electrospray ionization-mass spectra. The polyphenols enhanced the uptake of zinc into the liposomes and increased FluoZin-3 fluorescence.

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Increased accumulation of heavy metal ions such as Cr and Co due to release from prostheses and metallic implants has been reported. These metal ions have been shown to affect both resting and activated lymphocytes. Natural remedies towards mitigating the cytotoxic effects of metal ions are clearly warranted.

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Background: Leprosy (Hansen's disease) is a chronic, debilitating disease predominantly of the peripheral nervous system characterized by the impairment of peripheral nerves and subsequent sensory loss caused by . The pro- and antiinflammatory cytokine genes play a major role in nerve damage in leprosy.

Aims And Objectives: The objective of the present study is to ascertain the association of cytokine gene polymorphisms TNFα - 308G/A (rs 1800629), IFNγ +874A/T (rs 2430561), and IL10 - 1082G/A rs 1800896 in causation with leprosy.

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Problem: Fork Head Box Protein 3 (FOXP3) is an X-linked gene, codes for a master transcription regulatory protein that controls the development and function of immunosuppressive T regulatory (Treg) cells. They are crucial mediators of maternal foetal tolerance and successful pregnancy outcome. The aim of the study is to evaluate the association of FOXP3 rs3761548 functional polymorphism and to assess the serum concentrations of full-length FOXP3 protein in Unexplained Recurrent Spontaneous Abortions (URSA) patients of Southern India.

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Cervical cancer is one of the most malignant reproductive diseases seen in women worldwide. The identification of dysregulated genes in clinical samples of cervical cancer may pave the way for development of better prognostic markers and therapeutic targets. To identify the dysregulated genes (DEGs), we have retrospectively collected 10 biopsies, seven from cervical cancer patients and three from normal subjects who underwent a hysterectomy.

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This work is aimed at investigating the expression levels of inducible nitric oxide synthase (iNOS) in cervical cancer and identifying a potential iNOS inhibitor. The data mining studies performed advocated iNOS to be a promising biomarker for cancer prognosis, as it is highly overexpressed in several malignant cancers. The elevated iNOS was found to be associated with poor survival and increased tumor aggressiveness in cervical cancer.

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Zinc is an essential micronutrient involved in various biological processes. It is also argued that tumors need zinc for maintenance and proliferation and tumor cell apoptosis. Zinc homeostasis is regulated by the gastrointestinal tract and involves interplay of host, dietary, environmental and social factors such as alcohol consumption.

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Cisplatin upregulate the intercellular adhesion molecule expression on the surface of endothelium, which in turn mediates enhanced infiltration by monocytes or leukocytes, resulting in endothelial dysfunction. Here we examined changes induced by andrographolide, a diterpenoid lactone isolated from Andrographis paniculata on endothelial cell activation and hyperpermeability in cisplatin-stimulated endothelial cells. Cisplatin upregulated endothelial ICAM-1 expression, through an NF-κB dependent mechanism, that also required the enhanced translocation of Protein Kinase C-α (PKC) onto the plasma membrane, phosphorylation of transient receptor potential channel 1 (TRPC), leading to store-operated Ca-entry (SOCE), endothelial cell dysfunction and hyperadhesion of U937 monocytes.

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COVID-19 and its impact on neurological manifestations and mental health: the present scenario.

Neurol Sci

November 2020

Department of Cell Biology, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, Telangana, 500016, India.

Though the COVID-19 pandemic primarily affects pulmonary and cardiorenal functions, many healthcare and its allied groups reported neurological involvement of SARS-CoV-2 in combination with either pre-existing metabolic abnormalities, medical conditions, infections or even chronic to acute inflammatory episodes of the nervous system. The present review provides a fair outlook of the published literature and also the case reports with an emphasis on plausible mechanisms involved in neurological complications of the central and peripheral nervous systems. Awareness on the neuropsychiatric manifestations being discussed in this article should ideally help the medical community in early identification and effective management of potentially life-threatening neurological diseases.

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Myocardial zinc dyshomeostasis is associated with caspase-3 activation, ErbB2 degradation and apoptosis during hypoxia/reoxygenation. Zinc pyrithione replenishes intracellular zinc, suppresses caspase-3, augments ErbB2 levels and improves cell survival. We hypothesize that zinc is capable of modulating redox and endoplasmic reticulum (ER) stress in the setting of cardiomyocyte hypoxia-reoxygenation.

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Pooled genetic analysis identifies variants that confer enhanced susceptibility to PCOS in Indian ethnicity.

Gene

August 2020

Department of Clinical Genetics, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad 500016, Telangana, India. Electronic address:

Background: PCOS is a common endocrine disorder that is characterized by hyperandrogenism and chronic anovulation and is the leading cause of female infertility. It is a heterogeneous disorder with the involvement of multiple gene and environmental interactions. This study identified variants that are known to confer susceptibility identified by Genome wide association studies (GWAS) in other ethnicities and replicated the same in individuals with PCOS of Indian ethnicity.

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Objectives: Dietary phytate is known to protect against azoxymethane (AOM)-induced preneoplastic lesions. The present study was designed to determine whether dietary phytate affects mutation frequency in colon epithelial cells challenged with azoxymethane , through lowering the formation of O-methyl guanosine (O-MeG) and 8-hydroxy deoxyguanosine (8-OHdG) adducts.

Materials And Methods: We used Fisher F344 rats induced with AOM for 20 weeks and undertook 1% or 2% phytate supplementation for subsequent 16 weeks to monitor the mutation frequencies of one of the candidate genes, K-, along with DNA adduct load.

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Impact of Genetic Variants in Estrogen Receptor-β Gene in the Etiology of Uterine Leiomyomas.

J Reprod Infertil

January 2019

Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, Telangana, India.

Background: Uterine leiomyomas are steroid hormone dependent myometrial neoplasms of female genital tract which appear after menarche and regress at menopause. The present study evaluated the role of ER-β gene polymorphisms (rs3020449 C/T, rs3020450 G/A, rs1271572 G/T, rs1256049 G/Aand rs4986938 G/A) in the etiology of disease.

Methods: A total of 150 clinically, ultrasonographically evaluated uterine leiomyoma patients and an equal number of individuals as controls were considered for the present study.

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Purpose: The study estimates the association of VEGF gene polymorphism (-1154 G/A, -2549 I/D, -2578 C/A, and +936 C/T) in recurrent pregnancy loss from South Indian population.

Methods: A total of 100 couples with the history of recurrent pregnancy loss and 100 couples with medically terminated pregnancies were considered. Fetal tissues with < 20 weeks of gestation including peripheral blood from case and control couples were collected.

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