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Papers by mudasar nabi

polycystic ovary syndrome is the most common endocrine, reproductive disorder of women in their r... more polycystic ovary syndrome is the most common endocrine, reproductive disorder of women in their reproductive years. It is commonly considered as an androgenic disorder. Apart from high circulating testosterone levels, hyperandrogenism can also be attributed to the hyperactive androgen receptor (AR). Androgen receptor mediated signalling involves the association of multiple coactivators and corepressors and any aberrant activity of these factors may disrupt the normal transcriptional activity of AR and hence may act as contributing factors in the pathophysiology of various diseases. LncRNAs prostate cancer associated non-coding RNA 1 (PRNCR1) and prostate cancer gene expression marker 1 (PCGEM1) act as androgen receptor coactivator lncRNAs. The study was aimed at determining the association of lncRNAs PRNCR1 and PCGEM1 with PCOS. In this case-control study, a total of 178 participants were recruited these included 105 PCOS cases and 73 age-matched healthy controls. The Anthropometric...

Genes, Aug 17, 2022

This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY

Biomedical Reports

The aim of the present study was to investigate the clinical features and laboratory parameters o... more The aim of the present study was to investigate the clinical features and laboratory parameters of hospitalized patients with coronavirus disease 2019 (COVID-19) and assess the characteristics between severe and non-severe cases. The study retrospectively analyzed the clinical data of 1,096 patients, of which, 626 (57.11%) and 470 (42.89%) were categorized into severe and non-severe groups, respectively. Clinical parameters such as signs and symptoms, comorbidities, levels of D-dimer, C-reactive protein (CRP), interleukin 6 (IL-6) and lactate dehydrogenase were analyzed. The data are presented as frequencies, means and standard deviations. The chi-square test and Mann-Whitney U test were used to assess any significant differences between the severe and non-severe COVID-19 groups. The clinical symptoms in severe COVID-19 cases included anosmia (P≤0.01), sore throat (P≤0.01), fatigue (P≤0.01), headache (P≤0.01), and shortness of breath (P≤0.01). Laboratory findings showed a significant increase in CRP (21.90±40.23 vs. 16.13±21.82; P≤0.01) and IL-6 levels (58.92±55.07 vs. 41.41±38.30; P≤0.01). Patients with severe COVID-19 had significant lymphopenia compared with that in non-severe cases. Among the comorbidities, hypertension (P≤0.01) was significantly more frequent in patients with severe COVID-19. In conclusion, major derangements in laboratory parameters were observed in patients with severe COVID-19 infection.

International Journal of Scientific Research in Science and Technology, 2017

Rheumatoid arthritis (RA) is a chronic, systemic autoimmune inflammatory disease that is characte... more Rheumatoid arthritis (RA) is a chronic, systemic autoimmune inflammatory disease that is characterised by joint pain, stiffness, and swelling. The etiology of Rheumatoid arthritis is unknown, however according to medical reports and studies, the main factors that contribute to the development of RA include the genetic and individual risk factors or prolonged exposure to environmental triggers. In the development of RA a key role is played by the T cells, B cells and the concurrent interactions of the pro-inflammatory factors. Rheumatoid arthritis (RA) was regarded as a major clinical problem, however treatments involving biologics have revolutionized the management of this inflammatory disease. In RA the underlying objective of using therapeutics is to reduce the activity of this disease with the main aim focussing on disease remission. In order to develop novel treatment for RA, a range of strategies needs to be developed which primarily shall focus on those patients who do not res...

African Journal of Microbiology Research, 2015

Arsenic (As) contamination of surface and ground waters in Uttar Pradesh (UP) is geological in na... more Arsenic (As) contamination of surface and ground waters in Uttar Pradesh (UP) is geological in nature, even though some degree of As contamination may be due to anthropogenic activities. Little is known about the arsenite oxidizing bacteria in aquatic environments of UP. In this study we isolated the As resistant bacteria from both surface and ground waters of UP. Seven potential strains were isolated by culture method using chemically defined medium (CDM). Two strains (AOB-GP1 and AOB-MT1) were Gram negative and other five were found to be Gram positive. The presence of arsenite oxidizing bacteria in groundwater is limited if compared to surface waters. 16S rDNA revealed highest homology of 99 - 88%. The strains were similar with Acinetobacter sp. PGSI1, Rummeliibacillus stabekisii, Cronobacter sakazakii, Bacillus tequilensis, Brevibacillus agri strain, Bacillus thuringiensis and Virgibacillus marismortui. The 16S rDNA gene sequence analysis for the As-resistant strains in surface ...

Gynecological Endocrinology

Abstract Objective Polycystic ovarian syndrome is a complex reproductive as well as endocrinologi... more Abstract Objective Polycystic ovarian syndrome is a complex reproductive as well as endocrinological disorder characterized by anovulatory dysfunction, androgen excess and polycystic ovarian morphology. Hyperandrogenism is regarded as a cardinal feature of the disease. It is believed that the excess androgens are produced due to abnormality in steroid biosynthesis pathway wherein cytochrome P450, 17α-hydroxylase (CYP17) plays an imperative role. Therefore the objective of the present study was to analyze the T/C polymorphism in 5’UTR of CYP17 gene for its association with PCOS and hyperandrogenism in Kashmiri population. Method A total of 700 subjects which included 394 PCOS patients and 306 healthy controls were recruited for the study. Their anthropometric, biochemical and hormonal parameters were analyzed. DNA was extracted followed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to analyze the relationship of CYP17 gene polymorphism with PCOS and hyperandrogenism in PCOS. Results and conclusion The allelic as well as genotypic distribution did not show any significant difference between the cases and controls. However, PCOS patients with mutant genotype had significantly higher level of total testosterone and clinical features like FG score, alopecia than those of wild and heterozygous genotype, indicating association with hyperandrogenism in our Kashmiri population.

Egyptian Journal of Medical Human Genetics

Background Polycystic ovary syndrome (PCOS) is a multifactorial endocrine disorder characterized ... more Background Polycystic ovary syndrome (PCOS) is a multifactorial endocrine disorder characterized by anovulation, hyperandrogenism, and polycystic ovarian morphology. The pathophysiology of PCOS is not clear; however, disturbance in hypothalamic-pituitary-ovarian axis and abnormal steroidogenesis along with genetic and environmental factors act as main contributors to this disorder. Main text Hyperandrogenism, the hallmark feature of PCOS, is clinically manifested as hirsutism, acne, and alopecia. Excessive androgen production by ovaries as well as from adrenals contributes to hyperandrogenism. Abnormalities in the neuroendocrine system like increased pulse frequency of gonadotropin-releasing hormone, stimulating the pituitary for excessive production of luteinizing hormone than that of follicle-stimulating hormone is seen in PCOS women. Excess LH stimulates ovarian androgen production, whereas a relative deficit in FSH impairs follicular development. The imbalance in LH: FSH causes ...

Meta Gene

Abstract Purpose PCOS is a complex heterogeneous multifactorial endocrine disorder characterized ... more Abstract Purpose PCOS is a complex heterogeneous multifactorial endocrine disorder characterized by anovulation, hyperandrogenism and polycystic ovaries. PCOS affects 5–10% women of reproductive age is also suggested to increase the risk of insulin resistance, cardiovascular disorders and T2DM. The aim of this study was to assess the possible association of INS VNTR polymorphism with PCOS and their phenotype-genotype interactions in Kashmiri women with PCOS. Methods A total of 349 subjects including 249 cases and 100 age-matched healthy controls were recruited in the study. DNA was extracted from peripheral venous blood from all subjects and association analysis was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Genotype-phenotype correlation analysis was performed to evaluate the association of INS VNTR polymorphism with phenotypic features. Results Allele frequency (OR = 0.86, C.I. 0.48–1.54, P = .61) and genotype distribution (P = .79, χ2 = 0.46) showed no significant association between INS VNTR and PCOS. The dominant (OR = 1.21, χ2 = 0.026, P = .871), recessive (OR = 0.83, χ2 = 0.35, P = .549) and heterozygote vs. homozygote (OR = 1.25, χ2 = 0.45, P = .50) genotype model analysis further supported this finding. Genotype-phenotype correlation analysis showed class III allele carrier (I/III + III/III genotype) was significantly associated with increased weight (P = .044), BMI (P = .021) insulin (F) (P = .049) and HOMA IR (P = .02) in recessive model in PCOS women. Conclusions INS VNTR polymorphism does not increase the risk of PCOS. However, INS VNTR class III allele is associated with elevated BMI and HOMA IR, suggesting its role in the pathogenesis of insulin resistance and obesity in Kashmiri women with PCOS.

World journal of diabetes, Jan 15, 2015

Diabetes mellitus is increasing at an alarming rate and has become a global challenge. Insulin re... more Diabetes mellitus is increasing at an alarming rate and has become a global challenge. Insulin resistance in target tissues and a relative deficiency of insulin secretion from pancreatic β-cells are the major features of type 2 diabetes (T2D). Chronic low-grade inflammation in T2D has given an impetus to the field of immuno-metabolism linking inflammation to insulin resistance and β-cell dysfunction. Many factors advocate a causal link between metabolic stress and inflammation. Numerous cellular factors trigger inflammatory signalling cascades, and as a result T2D is at the moment considered an inflammatory disorder triggered by disordered metabolism. Cellular mechanisms like activation of Toll-like receptors, Endoplasmic Reticulum stress, and inflammasome activation are related to the nutrient excess linking pathogenesis and progression of T2D with inflammation. This paper aims to systematically review the metabolic profile and role of various inflammatory pathways in T2D by captur...

Egyptian Journal of Medical Human Genetics

Background: Recently, three coding polymorphisms in X-ray cross complementing gene 1 (XRCC1) have... more Background: Recently, three coding polymorphisms in X-ray cross complementing gene 1 (XRCC1) have been identified; with probable effect on DNA repair capacity and thus modulation of cancer susceptibility. Moreover, association of these polymorphisms with the cancer risk are reported to be population dependent. Therefore, in this case control study we aimed to investigate the polymorphism at codon 194 (Arg to Trp) in XRCC1 gene and the possible association of its polymorphic genotypes with skin cancer in the ethnically different population of Kashmir. Aim: To study if there is any possible association of Arg194Trp XRCC1 polymorphism with risk of developing skin cancer in ethnically different Kashmir population. Subjects and methods: For this study 68 skin cancer patients and 60 healthy controls, matched for age and gender were recruited. PCR-RFLP followed by statistical analysis was employed to check for the C194T polymorphism and its possible association with the skin cancer risk in the population. Result: An insignificant association among skin cancer patients with respect to the wild (Arg/Arg) versus variant (Trp/Trp) genotypes (OR = 0.34, 95% CI = 0.10-1.05, p = 0.06) was observed. However, individually homozygous and heterozygous variant alleles were observed to be associated with risk of developing skin cancer. As far as, individual allelic ratio among cases and controls is concerned Trp allele of codon194 showed a remarkably high frequency in cases (67.7% vs. 32.3%) in comparison with controls (OR = 1.94, 95% CI = 1.22-3.0, p = 0.004). Discussion: These findings suggest that the combined homozygous and heterozygous variants of each codon and the 194Trp allele are associated with the disease, however when genotypes were compared individually, the association turned out to be insignificant.

International Journal of Endocrinology

Background. Polycystic ovary syndrome (PCOS) is the most common endocrine metabolic disorder affe... more Background. Polycystic ovary syndrome (PCOS) is the most common endocrine metabolic disorder affecting premenopausal women. Besides primary features like anovulation, hyperandrogenism, and polycystic ovaries, women with PCOS present with multiple metabolic, cardiovascular, and psychological disorders. The etiology is multifactorial and the different genetic variants are suggested to play an important role in pathogenesis. Insulin resistance is a ubiquitous finding in PCOS and SNPs in genes involved in the insulin signaling pathway are possible candidates that can explain the development of clinical manifestations of PCOS. Aim. We aimed to investigate the association of INSR His1058 C/T (rs1799817) single nucleotide polymorphism with PCOS in Kashmiri women. The genotypic-phenotypic correlation of the tested SNP with hyperandrogenism, ovulatory dysfunction, and metabolic markers was evaluated. Results. The allele frequency (OR = 1.00, 95% CI = 0.67–1.48, χ2 = 0.01, P = 0.99 ) and geno...

Arsenic contamination of groundwater is widespread and there are a number of regions where arseni... more Arsenic contamination of groundwater is widespread and there are a number of regions where arsenic contamination of drinking-water is significant. Thousands of people have already been identified to be affected by arsenic poisoning, in addition to the millions potentially under threat from drinking contaminated water. Provision of arsenic free water is urgently needed for immediate protection of health and well being of the people living in arsenic affected areas. In most situations, substitution of tube well water by an alternative safe and reliable source of water supply is not an easy task. The symptoms and signs caused by long-term elevated exposure to inorganic arsenic differ between individuals, population groups and geographical areas. Thus, there is no universal definition of the disease caused by arsenic. This complicates the assessment of the burden on health of arsenic. Microorganisms such as Thiobacillus ferrooxidans, Lepto spirillum ferrooxdans and fungi like Scopulario...

Journal of Pure and Applied Microbiology

Extended Spectrum beta lactamase producing pathogens are reported in many clinical samples and po... more Extended Spectrum beta lactamase producing pathogens are reported in many clinical samples and pose an emerging threat health. To find the prevalence of ESBL producing Enterobactriacea pathogens isolated from inpatients (Medical and Surgical Wards; Hospital stay > 72 h) admitted to Prince, Mutib, Hospital Sakaka, Jouf. A total of 1043 Enterobactriacea were isolated during April 2015 to October 2016 study period. Vitek -2 compact (biomeriux Leon, France) was used for identification and antimicrobial sensitivity (AST) test. A Total of 115/1043 (11.02%) ESBL producing pathogens were isolated from urine 15.07% (n=242), sputum 13.6 % (n=220), wound 10.8% (n=287) and blood 5.4 % (n=294). Klebsiella pneumonia is most dominant followed by E coli and Proteus miribilis. Cephamycins and carbapenems were found most effective (100% sensitivity) against the pathogens isolated. The aminoglycosides, beta lactams and Fluroquinolnes class of antibiotics, microorganisms have gained the resistance o...

Application of Genetics and Genomics in Poultry Science, Sep 5, 2018

Although poultry industry has gained momentum during the last few decades, there are still variou... more Although poultry industry has gained momentum during the last few decades, there are still various impediments like improper infrastructure, unscientific management and above all various deadly infectious diseases which incur huge economic losses on poultry industry. These diseases include viral diseases like Avian Influenza, Marek's Disease, New Castle disease and bacterial diseases like Colibacillosis, Pasteurellosis and Salmonellosis, etc. Development of disease resistant poultry has been found successful practice over the use of drugs or vaccines for disease control. Studies involving genome wide associations to figure out certain candidate genes that are involved in disease resistance have also been carried out. Single nucleotide polymorphism studies to unveil the mechanisms underlying disease resistance in chicken show that SNPs and other candidate gene approaches play a vital role in providing disease resistance. Also, understanding the genes and biological pathways that confer genetic resistance to various infections will lead towards the development of more resistant commercial poultry flocks or improved vaccines against various diseases. This chapter shall focus on various factors involved in disease resistance in chicken that interact with the pathogen and provide resistance against the pathogen.

Rheumatoid arthritis (RA) is a chronic, systemic autoimmune inflammatory disease that is characte... more Rheumatoid arthritis (RA) is a chronic, systemic autoimmune inflammatory disease that is characterised by joint pain, stiffness, and swelling. The etiology of Rheumatoid arthritis is unknown, however according to medical reports and studies, the main factors that contribute to the development of RA include the genetic and individual risk factors or prolonged exposure to environmental triggers. In the development of RA a key role is played by the T cells, B cells and the concurrent interactions of the pro-inflammatory factors. Rheumatoid arthritis (RA) was regarded as a major clinical problem, however treatments involving biologics have revolutionized the management of this inflammatory disease. In RA the underlying objective of using therapeutics is to reduce the activity of this disease with the main aim focussing on disease remission. In order to develop novel treatment for RA, a range of strategies needs to be developed which primarily shall focus on those patients who do not res...

Scientific Reports

Polycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorder in pre-menopa... more Polycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorder in pre-menopausal women having complex pathophysiology. Several candidate genes have been shown to have association with PCOS. CYP19 gene encodes a key steroidogenic enzyme involved in conversion of androgens into estrogens. Previous studies have reported contradictory results with regard to association of SNP rs2414096 in CYP19 gene with PCOS and hyperandrogenism in different ethnic populations. Present study was aimed to investigate the impact of SNP rs2414096 polymorphism of CYP19 gene on susceptibility of PCOS and hyperandrogenism in Kashmiri women. Further we also studied the genotypic-phenotypic association for various clinical and biochemical parameters of this polymorphism. Case control study. 394 PCOS cases diagnosed on the basis of Rotterdam criteria and age matched 306 healthy women. We found a significant differences in genotypic frequency (χ2 = 18.91, p

Diabetes & Metabolic Syndrome: Clinical Research & Reviews

Aims: PCOS is associated with various immediate and long term health complications. The aim of th... more Aims: PCOS is associated with various immediate and long term health complications. The aim of this study was to investigate the association of serum fasting insulin concentration with cardiovascular and metabolic risk factors in women with polycystic ovary syndrome. Methods: A total of 349 women, 249 women with polycystic ovary syndrome and 100 age-matched healthy controls, were recruited in this case-control study. Fasting insulin and various other biochemical , hormonal and clinical parameters were measured in all participants. The correlation of insulin with cardiometabolic risk factors was evaluated in PCOS women with normal and high serum insulin concentration. Results: Fasting Insulin, BMI, WHR, FAI, LH: FSH, HOMA, QUICKI were significantly higher in PCOS women compared with healthy controls (p < 0.01). Fasting insulin showed a positive correlation with more cardiovascular and metabolic risk factors in PCOS compared to controls. The BMI, BAI, LAP, HOMA IR, QUICKI and FAI were significantly higher (all p < 0.05) in PCOS patients with higher insulin levels than with PCOS women with normal levels. Conclusion: Fasting insulin is an important determinant in the pathogenesis of obesity and hyper-androgenism in PCOS. It is associated with an increased risk of cardiovascular and metabolic disorders in women with PCOS.

Pakistan Journal of Biological Sciences

Diabetes and Metabolic Syndrome, 2019

Aims: PCOS is associated with various immediate and long term health complications. The aim of th... more Aims: PCOS is associated with various immediate and long term health complications. The aim of this study was to investigate the association of serum fasting insulin concentration with cardiovascular and metabolic risk factors in women with polycystic ovary syndrome. Methods: A total of 349 women, 249 women with polycystic ovary syndrome and 100 age-matched healthy controls, were recruited in this case-control study. Fasting insulin and various other biochemical , hormonal and clinical parameters were measured in all participants. The correlation of insulin with cardiometabolic risk factors was evaluated in PCOS women with normal and high serum insulin concentration. Results: Fasting Insulin, BMI, WHR, FAI, LH: FSH, HOMA, QUICKI were significantly higher in PCOS women compared with healthy controls (p < 0.01). Fasting insulin showed a positive correlation with more cardiovascular and metabolic risk factors in PCOS compared to controls. The BMI, BAI, LAP, HOMA IR, QUICKI and FAI were significantly higher (all p < 0.05) in PCOS patients with higher insulin levels than with PCOS women with normal levels. Conclusion: Fasting insulin is an important determinant in the pathogenesis of obesity and hyper-androgenism in PCOS. It is associated with an increased risk of cardiovascular and metabolic disorders in women with PCOS.

polycystic ovary syndrome is the most common endocrine, reproductive disorder of women in their r... more polycystic ovary syndrome is the most common endocrine, reproductive disorder of women in their reproductive years. It is commonly considered as an androgenic disorder. Apart from high circulating testosterone levels, hyperandrogenism can also be attributed to the hyperactive androgen receptor (AR). Androgen receptor mediated signalling involves the association of multiple coactivators and corepressors and any aberrant activity of these factors may disrupt the normal transcriptional activity of AR and hence may act as contributing factors in the pathophysiology of various diseases. LncRNAs prostate cancer associated non-coding RNA 1 (PRNCR1) and prostate cancer gene expression marker 1 (PCGEM1) act as androgen receptor coactivator lncRNAs. The study was aimed at determining the association of lncRNAs PRNCR1 and PCGEM1 with PCOS. In this case-control study, a total of 178 participants were recruited these included 105 PCOS cases and 73 age-matched healthy controls. The Anthropometric...

Genes, Aug 17, 2022

This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY

Biomedical Reports

The aim of the present study was to investigate the clinical features and laboratory parameters o... more The aim of the present study was to investigate the clinical features and laboratory parameters of hospitalized patients with coronavirus disease 2019 (COVID-19) and assess the characteristics between severe and non-severe cases. The study retrospectively analyzed the clinical data of 1,096 patients, of which, 626 (57.11%) and 470 (42.89%) were categorized into severe and non-severe groups, respectively. Clinical parameters such as signs and symptoms, comorbidities, levels of D-dimer, C-reactive protein (CRP), interleukin 6 (IL-6) and lactate dehydrogenase were analyzed. The data are presented as frequencies, means and standard deviations. The chi-square test and Mann-Whitney U test were used to assess any significant differences between the severe and non-severe COVID-19 groups. The clinical symptoms in severe COVID-19 cases included anosmia (P≤0.01), sore throat (P≤0.01), fatigue (P≤0.01), headache (P≤0.01), and shortness of breath (P≤0.01). Laboratory findings showed a significant increase in CRP (21.90±40.23 vs. 16.13±21.82; P≤0.01) and IL-6 levels (58.92±55.07 vs. 41.41±38.30; P≤0.01). Patients with severe COVID-19 had significant lymphopenia compared with that in non-severe cases. Among the comorbidities, hypertension (P≤0.01) was significantly more frequent in patients with severe COVID-19. In conclusion, major derangements in laboratory parameters were observed in patients with severe COVID-19 infection.

International Journal of Scientific Research in Science and Technology, 2017

Rheumatoid arthritis (RA) is a chronic, systemic autoimmune inflammatory disease that is characte... more Rheumatoid arthritis (RA) is a chronic, systemic autoimmune inflammatory disease that is characterised by joint pain, stiffness, and swelling. The etiology of Rheumatoid arthritis is unknown, however according to medical reports and studies, the main factors that contribute to the development of RA include the genetic and individual risk factors or prolonged exposure to environmental triggers. In the development of RA a key role is played by the T cells, B cells and the concurrent interactions of the pro-inflammatory factors. Rheumatoid arthritis (RA) was regarded as a major clinical problem, however treatments involving biologics have revolutionized the management of this inflammatory disease. In RA the underlying objective of using therapeutics is to reduce the activity of this disease with the main aim focussing on disease remission. In order to develop novel treatment for RA, a range of strategies needs to be developed which primarily shall focus on those patients who do not res...

African Journal of Microbiology Research, 2015

Arsenic (As) contamination of surface and ground waters in Uttar Pradesh (UP) is geological in na... more Arsenic (As) contamination of surface and ground waters in Uttar Pradesh (UP) is geological in nature, even though some degree of As contamination may be due to anthropogenic activities. Little is known about the arsenite oxidizing bacteria in aquatic environments of UP. In this study we isolated the As resistant bacteria from both surface and ground waters of UP. Seven potential strains were isolated by culture method using chemically defined medium (CDM). Two strains (AOB-GP1 and AOB-MT1) were Gram negative and other five were found to be Gram positive. The presence of arsenite oxidizing bacteria in groundwater is limited if compared to surface waters. 16S rDNA revealed highest homology of 99 - 88%. The strains were similar with Acinetobacter sp. PGSI1, Rummeliibacillus stabekisii, Cronobacter sakazakii, Bacillus tequilensis, Brevibacillus agri strain, Bacillus thuringiensis and Virgibacillus marismortui. The 16S rDNA gene sequence analysis for the As-resistant strains in surface ...

Gynecological Endocrinology

Abstract Objective Polycystic ovarian syndrome is a complex reproductive as well as endocrinologi... more Abstract Objective Polycystic ovarian syndrome is a complex reproductive as well as endocrinological disorder characterized by anovulatory dysfunction, androgen excess and polycystic ovarian morphology. Hyperandrogenism is regarded as a cardinal feature of the disease. It is believed that the excess androgens are produced due to abnormality in steroid biosynthesis pathway wherein cytochrome P450, 17α-hydroxylase (CYP17) plays an imperative role. Therefore the objective of the present study was to analyze the T/C polymorphism in 5’UTR of CYP17 gene for its association with PCOS and hyperandrogenism in Kashmiri population. Method A total of 700 subjects which included 394 PCOS patients and 306 healthy controls were recruited for the study. Their anthropometric, biochemical and hormonal parameters were analyzed. DNA was extracted followed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to analyze the relationship of CYP17 gene polymorphism with PCOS and hyperandrogenism in PCOS. Results and conclusion The allelic as well as genotypic distribution did not show any significant difference between the cases and controls. However, PCOS patients with mutant genotype had significantly higher level of total testosterone and clinical features like FG score, alopecia than those of wild and heterozygous genotype, indicating association with hyperandrogenism in our Kashmiri population.

Egyptian Journal of Medical Human Genetics

Background Polycystic ovary syndrome (PCOS) is a multifactorial endocrine disorder characterized ... more Background Polycystic ovary syndrome (PCOS) is a multifactorial endocrine disorder characterized by anovulation, hyperandrogenism, and polycystic ovarian morphology. The pathophysiology of PCOS is not clear; however, disturbance in hypothalamic-pituitary-ovarian axis and abnormal steroidogenesis along with genetic and environmental factors act as main contributors to this disorder. Main text Hyperandrogenism, the hallmark feature of PCOS, is clinically manifested as hirsutism, acne, and alopecia. Excessive androgen production by ovaries as well as from adrenals contributes to hyperandrogenism. Abnormalities in the neuroendocrine system like increased pulse frequency of gonadotropin-releasing hormone, stimulating the pituitary for excessive production of luteinizing hormone than that of follicle-stimulating hormone is seen in PCOS women. Excess LH stimulates ovarian androgen production, whereas a relative deficit in FSH impairs follicular development. The imbalance in LH: FSH causes ...

Meta Gene

Abstract Purpose PCOS is a complex heterogeneous multifactorial endocrine disorder characterized ... more Abstract Purpose PCOS is a complex heterogeneous multifactorial endocrine disorder characterized by anovulation, hyperandrogenism and polycystic ovaries. PCOS affects 5–10% women of reproductive age is also suggested to increase the risk of insulin resistance, cardiovascular disorders and T2DM. The aim of this study was to assess the possible association of INS VNTR polymorphism with PCOS and their phenotype-genotype interactions in Kashmiri women with PCOS. Methods A total of 349 subjects including 249 cases and 100 age-matched healthy controls were recruited in the study. DNA was extracted from peripheral venous blood from all subjects and association analysis was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Genotype-phenotype correlation analysis was performed to evaluate the association of INS VNTR polymorphism with phenotypic features. Results Allele frequency (OR = 0.86, C.I. 0.48–1.54, P = .61) and genotype distribution (P = .79, χ2 = 0.46) showed no significant association between INS VNTR and PCOS. The dominant (OR = 1.21, χ2 = 0.026, P = .871), recessive (OR = 0.83, χ2 = 0.35, P = .549) and heterozygote vs. homozygote (OR = 1.25, χ2 = 0.45, P = .50) genotype model analysis further supported this finding. Genotype-phenotype correlation analysis showed class III allele carrier (I/III + III/III genotype) was significantly associated with increased weight (P = .044), BMI (P = .021) insulin (F) (P = .049) and HOMA IR (P = .02) in recessive model in PCOS women. Conclusions INS VNTR polymorphism does not increase the risk of PCOS. However, INS VNTR class III allele is associated with elevated BMI and HOMA IR, suggesting its role in the pathogenesis of insulin resistance and obesity in Kashmiri women with PCOS.

World journal of diabetes, Jan 15, 2015

Diabetes mellitus is increasing at an alarming rate and has become a global challenge. Insulin re... more Diabetes mellitus is increasing at an alarming rate and has become a global challenge. Insulin resistance in target tissues and a relative deficiency of insulin secretion from pancreatic β-cells are the major features of type 2 diabetes (T2D). Chronic low-grade inflammation in T2D has given an impetus to the field of immuno-metabolism linking inflammation to insulin resistance and β-cell dysfunction. Many factors advocate a causal link between metabolic stress and inflammation. Numerous cellular factors trigger inflammatory signalling cascades, and as a result T2D is at the moment considered an inflammatory disorder triggered by disordered metabolism. Cellular mechanisms like activation of Toll-like receptors, Endoplasmic Reticulum stress, and inflammasome activation are related to the nutrient excess linking pathogenesis and progression of T2D with inflammation. This paper aims to systematically review the metabolic profile and role of various inflammatory pathways in T2D by captur...

Egyptian Journal of Medical Human Genetics

Background: Recently, three coding polymorphisms in X-ray cross complementing gene 1 (XRCC1) have... more Background: Recently, three coding polymorphisms in X-ray cross complementing gene 1 (XRCC1) have been identified; with probable effect on DNA repair capacity and thus modulation of cancer susceptibility. Moreover, association of these polymorphisms with the cancer risk are reported to be population dependent. Therefore, in this case control study we aimed to investigate the polymorphism at codon 194 (Arg to Trp) in XRCC1 gene and the possible association of its polymorphic genotypes with skin cancer in the ethnically different population of Kashmir. Aim: To study if there is any possible association of Arg194Trp XRCC1 polymorphism with risk of developing skin cancer in ethnically different Kashmir population. Subjects and methods: For this study 68 skin cancer patients and 60 healthy controls, matched for age and gender were recruited. PCR-RFLP followed by statistical analysis was employed to check for the C194T polymorphism and its possible association with the skin cancer risk in the population. Result: An insignificant association among skin cancer patients with respect to the wild (Arg/Arg) versus variant (Trp/Trp) genotypes (OR = 0.34, 95% CI = 0.10-1.05, p = 0.06) was observed. However, individually homozygous and heterozygous variant alleles were observed to be associated with risk of developing skin cancer. As far as, individual allelic ratio among cases and controls is concerned Trp allele of codon194 showed a remarkably high frequency in cases (67.7% vs. 32.3%) in comparison with controls (OR = 1.94, 95% CI = 1.22-3.0, p = 0.004). Discussion: These findings suggest that the combined homozygous and heterozygous variants of each codon and the 194Trp allele are associated with the disease, however when genotypes were compared individually, the association turned out to be insignificant.

International Journal of Endocrinology

Background. Polycystic ovary syndrome (PCOS) is the most common endocrine metabolic disorder affe... more Background. Polycystic ovary syndrome (PCOS) is the most common endocrine metabolic disorder affecting premenopausal women. Besides primary features like anovulation, hyperandrogenism, and polycystic ovaries, women with PCOS present with multiple metabolic, cardiovascular, and psychological disorders. The etiology is multifactorial and the different genetic variants are suggested to play an important role in pathogenesis. Insulin resistance is a ubiquitous finding in PCOS and SNPs in genes involved in the insulin signaling pathway are possible candidates that can explain the development of clinical manifestations of PCOS. Aim. We aimed to investigate the association of INSR His1058 C/T (rs1799817) single nucleotide polymorphism with PCOS in Kashmiri women. The genotypic-phenotypic correlation of the tested SNP with hyperandrogenism, ovulatory dysfunction, and metabolic markers was evaluated. Results. The allele frequency (OR = 1.00, 95% CI = 0.67–1.48, χ2 = 0.01, P = 0.99 ) and geno...

Arsenic contamination of groundwater is widespread and there are a number of regions where arseni... more Arsenic contamination of groundwater is widespread and there are a number of regions where arsenic contamination of drinking-water is significant. Thousands of people have already been identified to be affected by arsenic poisoning, in addition to the millions potentially under threat from drinking contaminated water. Provision of arsenic free water is urgently needed for immediate protection of health and well being of the people living in arsenic affected areas. In most situations, substitution of tube well water by an alternative safe and reliable source of water supply is not an easy task. The symptoms and signs caused by long-term elevated exposure to inorganic arsenic differ between individuals, population groups and geographical areas. Thus, there is no universal definition of the disease caused by arsenic. This complicates the assessment of the burden on health of arsenic. Microorganisms such as Thiobacillus ferrooxidans, Lepto spirillum ferrooxdans and fungi like Scopulario...

Journal of Pure and Applied Microbiology

Extended Spectrum beta lactamase producing pathogens are reported in many clinical samples and po... more Extended Spectrum beta lactamase producing pathogens are reported in many clinical samples and pose an emerging threat health. To find the prevalence of ESBL producing Enterobactriacea pathogens isolated from inpatients (Medical and Surgical Wards; Hospital stay > 72 h) admitted to Prince, Mutib, Hospital Sakaka, Jouf. A total of 1043 Enterobactriacea were isolated during April 2015 to October 2016 study period. Vitek -2 compact (biomeriux Leon, France) was used for identification and antimicrobial sensitivity (AST) test. A Total of 115/1043 (11.02%) ESBL producing pathogens were isolated from urine 15.07% (n=242), sputum 13.6 % (n=220), wound 10.8% (n=287) and blood 5.4 % (n=294). Klebsiella pneumonia is most dominant followed by E coli and Proteus miribilis. Cephamycins and carbapenems were found most effective (100% sensitivity) against the pathogens isolated. The aminoglycosides, beta lactams and Fluroquinolnes class of antibiotics, microorganisms have gained the resistance o...

Application of Genetics and Genomics in Poultry Science, Sep 5, 2018

Although poultry industry has gained momentum during the last few decades, there are still variou... more Although poultry industry has gained momentum during the last few decades, there are still various impediments like improper infrastructure, unscientific management and above all various deadly infectious diseases which incur huge economic losses on poultry industry. These diseases include viral diseases like Avian Influenza, Marek's Disease, New Castle disease and bacterial diseases like Colibacillosis, Pasteurellosis and Salmonellosis, etc. Development of disease resistant poultry has been found successful practice over the use of drugs or vaccines for disease control. Studies involving genome wide associations to figure out certain candidate genes that are involved in disease resistance have also been carried out. Single nucleotide polymorphism studies to unveil the mechanisms underlying disease resistance in chicken show that SNPs and other candidate gene approaches play a vital role in providing disease resistance. Also, understanding the genes and biological pathways that confer genetic resistance to various infections will lead towards the development of more resistant commercial poultry flocks or improved vaccines against various diseases. This chapter shall focus on various factors involved in disease resistance in chicken that interact with the pathogen and provide resistance against the pathogen.

Rheumatoid arthritis (RA) is a chronic, systemic autoimmune inflammatory disease that is characte... more Rheumatoid arthritis (RA) is a chronic, systemic autoimmune inflammatory disease that is characterised by joint pain, stiffness, and swelling. The etiology of Rheumatoid arthritis is unknown, however according to medical reports and studies, the main factors that contribute to the development of RA include the genetic and individual risk factors or prolonged exposure to environmental triggers. In the development of RA a key role is played by the T cells, B cells and the concurrent interactions of the pro-inflammatory factors. Rheumatoid arthritis (RA) was regarded as a major clinical problem, however treatments involving biologics have revolutionized the management of this inflammatory disease. In RA the underlying objective of using therapeutics is to reduce the activity of this disease with the main aim focussing on disease remission. In order to develop novel treatment for RA, a range of strategies needs to be developed which primarily shall focus on those patients who do not res...

Scientific Reports

Polycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorder in pre-menopa... more Polycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorder in pre-menopausal women having complex pathophysiology. Several candidate genes have been shown to have association with PCOS. CYP19 gene encodes a key steroidogenic enzyme involved in conversion of androgens into estrogens. Previous studies have reported contradictory results with regard to association of SNP rs2414096 in CYP19 gene with PCOS and hyperandrogenism in different ethnic populations. Present study was aimed to investigate the impact of SNP rs2414096 polymorphism of CYP19 gene on susceptibility of PCOS and hyperandrogenism in Kashmiri women. Further we also studied the genotypic-phenotypic association for various clinical and biochemical parameters of this polymorphism. Case control study. 394 PCOS cases diagnosed on the basis of Rotterdam criteria and age matched 306 healthy women. We found a significant differences in genotypic frequency (χ2 = 18.91, p

Diabetes & Metabolic Syndrome: Clinical Research & Reviews

Aims: PCOS is associated with various immediate and long term health complications. The aim of th... more Aims: PCOS is associated with various immediate and long term health complications. The aim of this study was to investigate the association of serum fasting insulin concentration with cardiovascular and metabolic risk factors in women with polycystic ovary syndrome. Methods: A total of 349 women, 249 women with polycystic ovary syndrome and 100 age-matched healthy controls, were recruited in this case-control study. Fasting insulin and various other biochemical , hormonal and clinical parameters were measured in all participants. The correlation of insulin with cardiometabolic risk factors was evaluated in PCOS women with normal and high serum insulin concentration. Results: Fasting Insulin, BMI, WHR, FAI, LH: FSH, HOMA, QUICKI were significantly higher in PCOS women compared with healthy controls (p &lt; 0.01). Fasting insulin showed a positive correlation with more cardiovascular and metabolic risk factors in PCOS compared to controls. The BMI, BAI, LAP, HOMA IR, QUICKI and FAI were significantly higher (all p &lt; 0.05) in PCOS patients with higher insulin levels than with PCOS women with normal levels. Conclusion: Fasting insulin is an important determinant in the pathogenesis of obesity and hyper-androgenism in PCOS. It is associated with an increased risk of cardiovascular and metabolic disorders in women with PCOS.

Pakistan Journal of Biological Sciences

Diabetes and Metabolic Syndrome, 2019

Aims: PCOS is associated with various immediate and long term health complications. The aim of th... more Aims: PCOS is associated with various immediate and long term health complications. The aim of this study was to investigate the association of serum fasting insulin concentration with cardiovascular and metabolic risk factors in women with polycystic ovary syndrome. Methods: A total of 349 women, 249 women with polycystic ovary syndrome and 100 age-matched healthy controls, were recruited in this case-control study. Fasting insulin and various other biochemical , hormonal and clinical parameters were measured in all participants. The correlation of insulin with cardiometabolic risk factors was evaluated in PCOS women with normal and high serum insulin concentration. Results: Fasting Insulin, BMI, WHR, FAI, LH: FSH, HOMA, QUICKI were significantly higher in PCOS women compared with healthy controls (p < 0.01). Fasting insulin showed a positive correlation with more cardiovascular and metabolic risk factors in PCOS compared to controls. The BMI, BAI, LAP, HOMA IR, QUICKI and FAI were significantly higher (all p < 0.05) in PCOS patients with higher insulin levels than with PCOS women with normal levels. Conclusion: Fasting insulin is an important determinant in the pathogenesis of obesity and hyper-androgenism in PCOS. It is associated with an increased risk of cardiovascular and metabolic disorders in women with PCOS.