Browsing by Author "Abhay Kumar Yadav"

Now showing 1 - 9 of 9

Assessment of genetic and environmental risk factor association with amyotrophic lateral sclerosis diseases
(Science and Engineering Research Support Society, 2020) Nitish Kumar Singh; Abhay Kumar Yadav; Manpreet Kaur; Ashish; Royana Singh
Amyotrophic lateral sclerosis (ALS) is a type of progressive neurodegenerative disease of motor neurons, resulting in a worsening weakness of voluntary muscles until death from respiratory failure occurs after about 3 to 5 years. Although highly significant mobility have been made in our understanding of the genetic causes of ALS, the contribution of environmental factors has been more challenging to assess. Extensive studies of the clinical patterns of ALS, individual family histories preceding the onset of ALS, and the rates of ALS in different populations and groups have led to improved patient care, but have not yet revealed a replicable, definitive environmental risk factor. In this review, we outline what is currently known of the environmental and genetic epidemiology of ALS, describe the current state of the art concerning the different types of ALS, and explore whether ALS should be considered a single disease or a syndrome. We examine the relationship between genetic and environmental risk factors and propose a disease model in which ALS is considered to be the result of environmental risks and time acting on a pre-existing genetic load, followed by an automatic, self-perpetuating decline to death. ⓒ 2019 SERSC.
Association between the MTHFR (rs1801133) gene variation and serum trace elements levels (Copper and Zinc) in individuals diagnosed with neural tube defects
(Elsevier B.V., 2024) Nitish Kumar Singh; Sarita Choudhary; Sangeeta Rai; Abhay Kumar Yadav; Royana Singh
Background and Aims: Neural tube defects (NTDs) occur when the neural tube fails to close within 28 days of human embryonic development. This results in central nervous system disorders like anencephaly, spina bifida, and encephalocele. Early diagnosis and treatment are crucial to minimize their impact on an individual's health and well-being. The present study aims to define the association between prenatal exposure to trace elements (Cu and Zn) and the single nucleotide polymorphism (SNP) of the MTHFR gene involved in folate metabolism pathways in neural tube defects in children and their mothers. Material and Methods: A cross-sectional study involving 331 participants (90 NTD cases, 88 healthy mothers, 85 NTD children, and 68 healthy children) from antenatal check-ups in Obstetrics and Gynaecology and Pediatric Surgery for Neural Tube Defects in the Outpatient Department (OPD) and Inpatient Department (IPD). Assessed Cu and Zn concentrations and their associations. Genomic DNA was extracted, and real-time PCR was used to determine genotypes. Atomic absorption spectrophotometry measured trace elements. Statistical analyses included Chi-Square tests, odds ratios, and Mann-Whitney U tests. Results: Significant associations were found between MTHFR C677T genotypes and NTD risk in mothers (p = 0.0491) and children (p = 0.0297). Allelic frequency analysis indicated a T allele association with NTD risk in children (p = 0.0107). Recessive models showed significant associations in mothers (p = 0.0169) and children (p = 0.1678). Cu levels differed significantly between NTD cases and controls (p < 0.0001), with MTHFR genotypes influencing Cu levels. Zinc levels also varied significantly (p < 0.0001). Conclusion: This study reveals complex associations between MTHFR C677T genotypes, trace element concentrations, and NTD risk in mothers and children. This targeted approach allows healthcare providers to identify at-risk pregnancies early, enabling personalised interventions like folic acid supplementation and counselling to moderate neural tube defect (NTD) risk in a future pregnancy. © 2024 Elsevier B.V.
Cytokine profiles and metabolic dysregulation in endometriosis: insights into diagnostic and therapeutic targets
(Springer Science and Business Media B.V., 2025) Ashish Ashish; Sangeeta Rai; Shivani Mishra; Anil Kumar Maurya; Abhay Kumar Yadav; Shani Vishwakarma; Royana Singh
Introduction: Endometriosis is a chronic inflammatory disorder marked by the ectopic growth of endometrial-like tissue, affecting 10–15% of women of reproductive age. Pro-inflammatory cytokines (TNF-α, IL-1β, IL-6) drive inflammation and disease progression, while anti-inflammatory cytokines (TGF-β, IL-10) maintain immune balance. Metabolic markers like homocysteine, folic acid, and vitamin B12 may influence immune regulation and contribute to endometriosis pathophysiology. Methodology: Serum levels of TNF-α, IL-1β, IL-6, IL-10, TGF-β, CRP, Ferritin, IL-4, IFN-γ, Homocysteine, Folic Acid, and Vitamin B12 were quantified using ELISA kits. Unpaired t-tests and Pearson correlation were used to assess immune-metabolic differences between endometriosis patients and healthy controls. Results: TNFα, IL-6, IL-1β, IL-10, homocysteine, ferritin, and reduced IFN-γ and CRP levels in the case group compared to controls (p < 0.05). TNFα (p = 0.0008), IL-1β (p = 0.0005), and homocysteine (p < 0.0001) were notably higher in cases. IFN-γ (p < 0.0001) and CRP (p < 0.0001) were significantly lower in cases. IL-6 (p = 0.0020), IL-10 (p = 0.0051), ferritin (p = 0.0338), and folate (p = 0.0134) also showed significant differences. TGF-β, IL-4, and Vit-B12 levels did not differ significantly (p > 0.05). These findings suggest altered cytokine and biochemical profiles in disease pathophysiology. Conclusion: The study highlights significant alterations in inflammatory cytokines and metabolic markers in endometriosis patients compared to healthy controls. Elevated pro-inflammatory and altered anti-inflammatory cytokine levels, along with metabolic imbalance, suggest immune-metabolic dysregulation in disease pathogenesis. These findings may aid in identifying potential biomarkers and therapeutic targets for endometriosis. © The Author(s), under exclusive licence to Springer Nature B.V. 2025.
Effects of SARS-Cov-2 infection and rhino-orbital mucormycosis on concentrations of inflammatory biomarkers in Indian populations
(IP Innovative Publication Pvt. Ltd., 2022) Ajay Kumar Yadav; Shivam Tiwari; Bhupendra Kumar; Abhay Kumar Yadav; Ashish Ashish; Nitish Kumar Singh; Manpreet Kaur; Shivani Mishra; Shani Vishwakarma; Surendra Pratap Mishra; Rajendra Prakash Maurya; Nargis Khanam; Pooja Dubey; Janhavi Yadav; Royana Singh; Sayeed Mehbub Ul Kadir
Rhino-orbital mucormycosis is a rare life threatening invasive fungal infection that has recently shown a very high mortality rate in India during COVID-19 pandemic. We have designed the present study to find out associations between COVID-19 induced rhino-orbital mucormycosis and concentrations of inflammatory markers, i.e. D-dimer, Ferritin, IL-6, CRP and PCT, in blood serum of Indian population. There were four groups in the study, viz. control group with healthy subjects, treatment group-1 with patients suffering from SARS-COV-2 infection, treatment group-2 with patients suffering from both SARS-COV-2 infection and rhino-orbital mucormycosis, and treatment group-3 with patients suffering from rhino-orbital mucormycosis after SARS-COV-2 infection recovery. Inflammatory markers were quantified with standard protocols, and recorded data were subjected to statistical analyses. We found that patients suffering from SARS-COV-2 infection were more susceptible to rhino-orbital mucormycosis, as they had higher concentrations of inflammatory markers in their blood than the other subjects. Diabetes mellitus, hypertension, cardiovascular diseases and renal disorders were the associated comorbidities with the patients. We also found higher concentrations of inflammatory markers in males than the females, indicating towards their higher susceptibility in developing rhino-orbital mucormycosis than females. Present study therefore suggests that the frequent occurrence of rhino-orbital mucormycosis in India during second wave of COVID-19 was possibly due to indiscriminate use of corticosteroids by COVID-19 patients. Subjects with previous history of comorbidities like diabetes mellitus, hypertension, cardiovascular disorders and renal diseases are the most susceptible population groups for developing infection. Moreover, males are at higher risk of developing mucormycosis than the females. © 2022 Innovative Publication, All rights reserved.
Investigation of Serum Pro-Inflammatory Markers and Trace Elements Among Short Stature in Eastern Uttar Pradesh and Bihar Populations
(Dove Medical Press Ltd, 2024) Abhay Kumar Yadav; Nitish Kumar Singh; Ankur Singh; Ashish Ashish; Sachchida Nand Rai; Santosh Kumar Singh; Royana Singh; Suchitra Singh
Purpose: Short stature is prevalent among children worldwide, particularly in developing countries. Various trace elements, including zinc, magnesium, iron, copper, chromium and selenium, are crucial for proper body development. The aim of this study is to explore the relationship between trace elements and TNF-α and IL-6 to elicit and possible pathway responsible for short stature. Methods: Two hundred and twenty samples were recruited for this study, 100 short statures and 120 controls were randomly selected. Six trace elements were measured using graphite furnace atomic absorption spectrometry. The concentrations of IL-6 and TNF-α in serum were assessed utilizing the Enzyme-Linked-Immunosorbent Assay (ELISA). Superoxide dismutase was also analysed to determine the oxidative stress response. Results: The study revealed notable distinctions in serum trace element levels of short stature. They exhibited significant lower levels of zinc and magnesium, alongside higher levels of copper. The altered Cu/Zn ratio seemed to have a positive correlation with short stature. Conversely, no significant disparities were observed in iron, chromium, and selenium levels. Furthermore, a significant rise was noted in proinflammatory marker TNF-α and cytokine IL-6. Additionally, superoxide dismutase was low in the short statures In silico study shows a high affinity of Zinc with TNF alpha. It may be suggested that inflammation at any time during childhood, with the rise in TNF alpha tightly binds with zinc and may have led to a decrease in zinc serum levels, altered redox homeostasis and resulted in short stature. Conclusion: The altered Cu/Zn ratio along with high TNF alpha and IL6 may be used as a marker for short stature in the initial years of growth in children before they reach maturity at the age of 18. Thereafter, introducing zinc supplementation could potentially enhance stature by mitigating TNF-alpha level. Further experimental studies will help to establish the exact role of zinc with TNF alpha in short stature. © 2024 Yadav et al.
The Morphological Features of Anencephaly in North Indian Population
(Wolters Kluwer Medknow Publications, 2023) Rashmi; Nitish Kumar Singh; Ashish; Abhay Kumar Yadav; Manpreet Kaur; Royana Singh
Background: Anencephaly occurs due to the complete absence of cranial vault and subsequent disruption of the cerebral cortex with a severely damaged brain. In anencephaly, the forebrain and brain stem are exposed. Forebrain either does not develop or is destroyed, leading to the absence of cerebrum and cerebellum. Methodology: Neural tube defects were taken in the study group. During the autopsy, clinical findings, external examination, internal examination, and photography were done along with the histopathology of the specimens to confirm the anomalies at microscopic level using hematoxylin and eosin staining. Results: In our study, we observed a simian crease in 4 out of 5 (80%) cases. Furthermore, there was presence of tooth which was not seen in previous studies. Central nervous system anomalies like spina bifida, gastro intestinal tract (GIT) anomalies like cleft palate, intestinal obstruction of megacolon, and malrotation of gut were some of the common anomalies which were observed in our study. Conclusion: It may be suggested that Anencephaly shows a female predisposition and the cases seems to be associated more in the primigravida females.The classical phenotypic presentation of anencephaly having absent cranial vault, low set ears, protruding eyes were present in all subjects studied. In our study, we observed a simian crease in 4 out of 5 (80%) cases. Furthermore, there was presence of tooth which was not seen in previous studies. Central nervous system anomalies like spina bifida, GIT anomalies like cleft palate, intestinal obstruction of megacolon, and malrotation of gut were some of the common anomalies which were observed in our study. © 2023 Journal of the Anatomical Society of India.
To determine the genotyping of Fc-gamma receptor FCGR2A polymorphism as genetic susceptibility to neonatal sepsis: A study from a tertiary center of North India
(Wolters Kluwer Medknow Publications, 2022) Sarita Chowdhary; Kanika Sharma; Ashish Ashish; Abhay Kumar Yadav; Pranay Panigrahi; Akas Mishra; Deepak Kumar; Royana Singh
Background: Neonatal sepsis term is an infection of newborns <28 days of age. It is a common cause of death in developing countries. The receptor-gamma receptor FCGR2A has been shown to be associated with neonatal sepsis. It is an activating receptor found in many cell types such as monocytes, neutrophils, macrophages, platelets, and others. The receptor has a polymorphism (single-nucleotide polymorphism rs1801274) in its gene (FCGR2A) that encodes either a histidine (H) or arginine (R) at amino acid position 131. There are many studies showing the impact of these FCGR2A polymorphisms on sepsis. Our study aims to determine the prevalence of Fc-gamma receptor FCGR2A (rs1801274) polymorphism in neonatal sepsis and control in Eastern UP populations. Patients and Methods: We conducted a cross-sectional descriptive study of 590 patients (310 healthy individuals and 280 sepsis patients) to determine polymorphisms in the CD32A coding region in neonates. All individuals were genotyped for a variant at position 131 of the FcγRIIA gene. Discussion: In our study, the prevalence of FcγRIIa polymorphism is more in neonates with sepsis than in noninfected neonates. It was observed that the heterozygous allele (AG) were significantly increased in septic neonates when compared to the normal. Conclusion: Our data indicate that FcγRIIA genotyping can be used as a marker of genetic susceptibility to sepsis. © 2022 Wolters Kluwer Medknow Publications. All rights reserved.
Trace elements and cognitions in elderly population: a case–control study
(Springer Science and Business Media B.V., 2025) Anil Kumar Maurya; Mona Srivastava; Ashish Ashish; Nitish Kumar Singh; Abhay Kumar Yadav; Shani Vishwakarma; Royana Singh
There have been almost no studies with trace elements and psychological battery in cognitively impaired elderly individuals. Such research is crucial to enhance diagnostic accuracy. We aim to identify significant differences in blood serum concentration levels of trace elements, Hindi Mini-Mental State Examination (HMMSE), and psychological battery as Hindi Mattis Dementia Rating Scale (HMDRS) scores between case and control groups in the elderly. A cross-sectional research design was conducted with a total of 240 subjects, comprising 120 each from the case and control groups. Trace elements were analyzed using Atomic Absorption Spectrometry. HMMSE and HMDRS tests were administered to assess cognition scores. The chi-square test, t-test, and appropriate statistics were utilized. Our findings indicate significant differences in demographic factors (age, gender, education level) and clinical levels (p <.001), while caste, habitat, and marital status were not significant (p <.05). Concentration levels of Iron (Fe) and Copper (Cu) was higher, Zinc (Zn), Chromium (Cr), and Selenium (Se) were lower, significantly different (p <.001), but Magnesium (Mg) was not (p <.05). Additionally, third HMMSE and HMDRS were significant (p <.001) between the case and control groups in the elderly. The study suggested that higher levels of Fe and Cu, while lower Zn, Cr, and Se blood serum concentrations increased the risk of cognitive impairments in the elderly population, demonstrated by the HMMSE and HMDRS test scores which were lower in the case group. © The Author(s), under exclusive licence to Springer Nature B.V. 2025.
Unveiling the role of trace elements in modulating inflammatory and oxidative pathways in CAG repeat–driven spinocerebellar ataxia
(Academic Press, 2025) Surbhi Singh; Deepika Srivastava Joshi; Abhay Kumar Yadav; Shani Vishwakarma; Janki Makani; Janhavi Yadav; Anil Kumar Maurya; Gulabi Yadav; Chandmayee Mohanty; Anand Kumar; Royana Singh
Spinocerebellar ataxias are genetically inherited neurodegenerative disorders, primarily caused by CAG trinucleotide repeat expansions in genes. While these genetic mutations initiate disease onset, increasing evidence suggests that systemic factors, particularly trace element imbalance, oxidative stress, and immune dysregulation, play critical roles in disease progression. In this study, peripheral blood samples from genetically confirmed SCA patients (n = 15) and age- and sex-matched healthy controls (n = 18) were analyzed. Atomic Absorption Spectroscopy revealed significant alterations in plasma concentrations of both essential and toxic trace elements, suggesting their involvement in neurotoxicity, redox imbalance, and inflammation. To explore these links, oxidative stress markers, including malondialdehyde, superoxide dismutase, and glutathione peroxidase, as well as cytokines such as interleukin-6, interleukin-4, and interleukin-10, were quantified using ELISA. Receiver operating characteristic analysis demonstrated high diagnostic accuracy of these markers, particularly GPx and IL-10. A strong interconnection was observed among trace element dysregulation, oxidative stress, and inflammatory responses, indicating a synergistic role in exacerbating neurodegeneration. Molecular docking revealed that abnormal trace element levels may impair antioxidant enzyme function by disrupting metal-binding interactions, offering mechanistic insight into enzymatic dysfunction. Bioinformatics analyses, including functional enrichment and protein–protein interaction mapping, identified significant associations with mitochondrial dysfunction, reactive oxygen species metabolism, and cytokine signaling pathways. These findings suggest that SCA pathogenesis is not driven by genetic mutation alone. The combined effects of trace element imbalance, oxidative stress, and inflammation contribute to a complex pathogenic network, reinforcing the importance of targeting both genetic and systemic factors in therapeutic strategies. © 2025 Elsevier Ltd