Indian Journal of Clinical Biochemistry最新文献

{"title":"A Novel Mutation in Cystic Fibrosis Presenting as Pseudo Bartter Syndrome: A Case Report.","authors":"Seema Shah, Sunil Jondhale, Manas Ranjan Sahoo, Tushar Jagzape, Swasti Keshri, Anil Kumar Goel","doi":"10.1007/s12291-021-01010-y","DOIUrl":"10.1007/s12291-021-01010-y","url":null,"abstract":"<p><p>Pseudo-Bartter's (PB) syndrome is characterized by hypokalemic metabolic alkalosis and failure to thrive which constitutes a rare but typical presentation of cystic fibrosis (CF) in children. The most common mutation of CF is F508del, due to loss of 3 base pairs, causing deletion of phenylalanine, at position 508. We present a case of CF presenting with failure to thrive, dehydration, PB syndrome associated with urosepsis and primo-colonization with <i>Escherichia coli</i> suggesting the role of epigenetic factors. The heterozygous state for Phe508del mutation in Exon 11 combination with Glu92Ala in Exon 4 resulted in epigenetic effect on atypical phenotype as PBS, a novel mutation identified in our case.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"38 4","pages":"550-552"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41126976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation Between Estrogen Receptor α Gene Polymorphism (c454-397T>C) with Serum Estradiol Levels and Known Risk Factors in Patients with Myocardial Infarction.","authors":"R R Aparna, D Rajarajeswari, M Prasad, T Sharmila Krishna, K Ramalingam, R Viswakumar, Nusrath Fathima, Aleem Ahmed Khan","doi":"10.1007/s12291-022-01104-1","DOIUrl":"10.1007/s12291-022-01104-1","url":null,"abstract":"<p><p>Myocardial infarction (MI) remains the most common cause of cardiac failure and continuous increasing rate of morbidity and mortality. We aimed to investigate the association of estrogen receptor-α (ESR1) gene polymorphism c454-397T>C with serum estradiol levels and dyslipidemia in 220 patients with MI in the age range of 35-70 years of both the genders. Genotyping study was performed through PCR-RFLP method using PvuII restriction enzyme. Serum estradiol level was estimated using the Access Sensitive Estradiol assay kit. Men patients had 43.2% increased risk for TC heterozygote in co-dominant (OR 10.66) and over-dominant models (OR 8.30), while women patients had 50% increased risk in co-dominant (OR 16.57) and over-dominant (OR 14.04) models. Variant C allele showed 25% increased risk of MI for in men (OR 2.24; CI 1.49-3.36; <i>p</i> = 0.0001), and 24% increased risk in women (OR 3.35; CI 1.95-5.76; <i>p</i> = 0.0001). Men patients had significantly increased serum estradiol levels compared to controls (25.28 ± 5.80 vs 17.04 ± 2.01; <i>p</i> < 0.0001). Significant difference was observed in estradiol levels between men and women patients (25.28 ± 5.80 vs 17.56 ± 3.32; <i>p</i> < 0.0001). Furthermore, significantly increased estradiol level was found in men patients compared to women for TT (25.46 ± 5.91 vs 16.71 ± 4.46; <i>p</i> < 0.0001), and TC genotypes (25.47 ± 5.91 vs 17.70 ± 2.86; <i>p</i> < 0.0001). Significantly increased HDL levels were observed in men patients with TC (43.10 ± 8.18 vs 38.91 ± 7.84; <i>p</i> < 0.01) and CC (47.16 ± 8.09 vs 38.91 ± 7.84; <i>p</i> < 0.001) genotypes compared to TT genotype. These findings suggest that TC heterozygote plays an important role as a genetic risk factor during MI pathogenesis in the South Indian population.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s12291-022-01104-1.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"38 4","pages":"495-504"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41128565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial Intelligence in Clinical Chemistry: Dawn of a New Era?","authors":"Prasenjit Mitra, Shruti Gupta, Praveen Sharma","doi":"10.1007/s12291-023-01150-3","DOIUrl":"10.1007/s12291-023-01150-3","url":null,"abstract":"","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"38 4","pages":"405-406"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41108858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"In vitro and in vivo evaluation of dual Clofazimine and Verapamil loaded PLGA nanoparticles.","authors":"Bhavneet Kaur, Maninder Kaur, Priyanca Ahlawat, Sadhna Sharma","doi":"10.1007/s12291-022-01062-8","DOIUrl":"10.1007/s12291-022-01062-8","url":null,"abstract":"<p><p>Combination therapy may counter the risk caused by efflux pumps mediated resistance developed by mycobacteria with a concomitant increase of the bactericidal effect of anti-TB drugs. In the present study, combination of two drugs in a nanoformulation was prepared. Clofazimine targets type 2 NADH dehydrogenase of the electron transport chain, and Verapamil inhibits various mycobacterial efflux pumps. The nanotechnology approach was adopted to overcome limitations associated with administration of free form of drugs by using poly (D, L-lactic-co-glycolic acid) as a polymer. Nanoparticles were prepared by oil/water single emulsion solvent evaporation procedure and characterized by various techniques. The results thus highlighted that developed nanoparticles were spherical with nano range size (200-450 nm). Fourier transform infrared spectroscopy revealed successful encapsulation of drugs in developed nanoformulations. Drugs in combination showed higher encapsulation efficiency and percentage drug loading capacity as compared to individual drug nanoformulations. Also, reduced toxicity of nanoformulation was observed in hemolysis assay as compared to free drugs. <i>Ex-vivo</i> analysis demonstrated efficient uptake of rhodamine encapsulated nanoparticles by THP-1 cells, while <i>in-vivo</i> results revealed sustained drug release of nanoformulation as compared to free drugs in combination. Therefore, we were able to achieve development of a single nanoformulation encapsulating Clofazimine and Verapamil in combination. Based on these findings, future studies can be designed to explore the potential of co-encapsulated Clofazimine and Verapamil nanoparticles in management of tuberculosis.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s12291-022-01062-8.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"38 4","pages":"466-474"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41134524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"\"Liver Failure in an Infant of Late-Onset Glutaric Aciduria Type II\": Case Report.","authors":"Swasti Keshri, Anil Kumar Goel, Juliet Johns, Seema Shah","doi":"10.1007/s12291-021-01007-7","DOIUrl":"10.1007/s12291-021-01007-7","url":null,"abstract":"<p><p>Glutaric aciduria type II, also known as Multiple acyl-CoA Dehydrogenase Deficiency, results from a defect in the mitochondrial electron transport chain resulting in an inability to break down fatty-acids and amino acids. There are three phenotypes- type 1 and 2 are of neonatal onset and severe form, with and without congenital anomalies, respectively, and presents with acidosis, severe hypotonia, cardiomyopathy, hepatomegaly, and non-ketotic hypoglycemia. Type 3 or late-onset Multiple acyl-CoA Dehydrogenase Deficiency usually presents in the adolescent or adult age group with phenotype ranging from mild forms of myopathy and exercise intolerance to severe forms of acute metabolic decompensation on its chronic course. Type 3 Multiple acyl-CoA Dehydrogenase Deficiency rarely presents in infancy and in liver failure. We present a five-month-old developmentally normal female child with acute encephalopathy, hypotonia, non-ketotic hypoglycemia, metabolic acidosis, and liver failure, with a history of sibling death of suspected inborn error of metabolism. The blood acyl-carnitine levels in Tandem Mass Spectrometry and urinary organic acid analysis through Gas Chromatography-Mass Spectrometry were unremarkable. The patient initially responded to riboflavin, CoQ, and supportive management but ultimately succumbed to sepsis with shock and multi-organ dysfunction. The clinical exome sequencing reported a homozygous missense variation in exon 11 of the <i>ETFDH</i> gene (chr4:g.158706270C > T) that resulted in the amino acid substitution of Leucine for Proline at codon 456 (p.Pro456Leu) suggestive of Glutaric aciduria type IIc (OMIM#231,680).</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"38 4","pages":"545-549"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41137840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vitamin C Improves Inflammatory-related Redox Status in Hyperlipidemic Rats.","authors":"Raushan Kumar, Syed Ibrahim Rizvi","doi":"10.1007/s12291-022-01070-8","DOIUrl":"10.1007/s12291-022-01070-8","url":null,"abstract":"<p><p>Excessive dietary fat is mainly responsible for metabolic diseases including atherosclerosis and cardiovascular disease. We have evaluated the role of Vitamin C in an experimental hyperlipidemic model of rats (male Wistar rat 12-16 months). The hyperlipidemic model of the rat was created by treatment with an atherogenic suspension: cholesterol, cholic acid, and coconut oil, for 30 days once daily, and supplemented with Vitamin C (Ascorbic acid) doses of 0.5 g/kg body weight (orally) for the 30 days once daily. Bodyweight, fasting glucose, triglyceride, cholesterol, ROS (Reactive oxygen species), MDA (Malondialdehyde), FRAP (Ferric reducing the ability of plasma), GSH (Reduced glutathione), PCO (Protein carbonyl), PON-1(Paraoxonase-1), AGE (Advanced glycation end product), PMRS (Plasma membrane reduced system), and inflammatory cytokines (TNF-α and IL-6) were estimated in blood and plasma. Our result shows that oxidative stress, and inflammatory markers, were increased in the HFD-treated group of rats. Vitamin C supplementation protected against lipidemic and, oxidative stress. We conclude that Vitamin C may be useful in maintaining cellular redox balance and protecting against lipidemic stress.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"38 4","pages":"512-518"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516823/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41137871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metabolic and Genetic Association of Vitamin D with Calcium Signaling and Insulin Resistance.","authors":"Najeebul Tarfeen, Khair Ul Nisa, Mir Bilal Ahmad, Ajaz Ahmad Waza, Bashir Ahmad Ganai","doi":"10.1007/s12291-022-01105-0","DOIUrl":"10.1007/s12291-022-01105-0","url":null,"abstract":"<p><p>Various evidences have unveiled the significance of Vitamin D in diverse processes which include its action in prevention of immune dysfunction, cancer and cardiometabolic disorders. Studies have confirmed the function of VD in controlling the expression of approximately nine hundred genes including gene expression of insulin. VD insufficiency may be linked with the pathogenesis of diseases that are associated with insulin resistance (IR) including diabetes as well as obesity. Thus, VD lowers IR-related disorders such as inflammation and oxidative stress. This review provides an insight regarding the molecular mechanism manifesting, how insufficiency of VD may be connected with the IR and diabetes. It also discusses the effect of VD in maintaining the Ca²⁺ levels in beta cells of the pancreas and in the tissues that are responsive to insulin.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"38 4","pages":"407-417"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41118739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age- And Gender-Based Predisposition Of MMP-9 -1562 C > T Genotype And Allele Frequencies With Serum MMP-9 Levels As Probable Risk Factors In Patients With Coronary Artery Disease.","authors":"D Balakrishna, B Sowjanya, M Prasad, R Viswakumar","doi":"10.1007/s12291-022-01073-5","DOIUrl":"10.1007/s12291-022-01073-5","url":null,"abstract":"<p><p>Coronary artery disease (CAD) is the third foremost reason of death worldwide in both men and women of different age groups, and is associated with 17.8 million mortalities annually due to unknown specific genetic background. Hence, we elucidated the age- and gender-based predisposition of MMP-9 -1562 C > T (rs3918242) genotype and allele frequencies along with serum MMP-9 levels as probable risk factors in the development of CAD. This case-control study comprised 150 CAD patients and 150 controls from the South Indian Population. PCR-RFLP was performed to determine different genotypes of MMP-9 gene and serum levels of MMP-9 were measured using ELISA. Age- and gender-based subgroup analysis was performed to assess the probable risk of genotype-based serum MMP-9 levels. CT heterozygote showed 25.4% increased frequency in overall CAD patients compared to controls (OR, 4.48; p < 0.0001); while it was 29.2% in men patients (OR, 6.68; p < 0.0001). The CT heterozygote incurred 25.2% increased risk of CAD in younger patients (p = 0.0033), and 25.6% in older patients (p = 0.001). Allele frequency analysis revealed 20% increased risk of minor T allele in younger patients (p = 0.001), and was 13% higher compared to older patients (p = 0.04). Patients with CC homozygote and CT heterozygote showed significantly increased serum MMP-9 levels. Further, comparative analysis showed significantly increased MMP-9 serum levels in women with CT heterozygote compared to men with the same genotype. Our findings clearly demonstrated that rs3918242 of MMP-9 gene and high serum levels of MMP-9 are associated with CAD in South Indian population specifically in older women.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s12291-022-01073-5.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"38 4","pages":"485-494"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516824/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41112994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Serum Complement C3 Levels with Severity and Mortality in COVID 19.","authors":"Sojit Tomo, Pvsn Kiran Kumar, Dharamveer Yadav, Shrimanjunath Sankanagoudar, Jayakaran Charan, Abhishek Purohit, Vijaya Lakshmi Nag, Pradeep Kumar Bhatia, Kuldeep Singh, Naveen Dutt, Mahendra Kumar Garg, Sanjeev Misra, Praveen Sharma, Purvi Purohit","doi":"10.1007/s12291-023-01148-x","DOIUrl":"10.1007/s12291-023-01148-x","url":null,"abstract":"<p><p>The severe acute respiratory distress syndrome-associated coronavirus-2 infection can activate innate and adaptive immune responses which may lead to harmful tissue damage, both locally and systemically. C3, a member of complement system of serum proteins, is a major component of innate immune and inflammatory responses. This study is aimed to assess serum C3 as a marker of COVID-19 severity and a predictor of disease progression. A total of 150 COVID-19 patients, confirmed by RT-PCR, and 50 healthy controls were recruited. Serum C3 levels were determined by using direct colorimetric method. Median levels of serum C3 in total cases and controls were 157.8 and 165.7 mg/dL respectively. Serum C3 although not significantly decreased, they were lower in cases when compared to controls. Similarly, significant differences were found between the groups, with severe group (140.6 mg/dL) having low levels of serum C3 protein when compared to mild (161.0 mg/dL) and moderate group (167.1 mg/dL). Interestingly, during hospitalization, significant difference between baseline (admission) and follow-up (discharge) was observed only in patients with moderate disease. Based on our results, lower levels of C3, with an increase in IL-6 and d-dimer levels, are associated with higher odds of mortality. Therefore, we would like to emphasize that measuring serum C3 levels along with other inflammatory markers might give an added advantage in early identification of patients who are prone to having a severe disease course and can help in a more effective follow-up of disease progression.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s12291-023-01148-x.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"38 4","pages":"447-456"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41137841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Contribution of Serum Sialic Acid Binding Immunoglobulin-Like Lectin 1(sSIGLEC-1) as an IFN I Signature Biomarker in the Progression of Atherosclerosis in Egyptian Systemic Lupus Erythematosus (SLE) Patients","authors":"Mohamed Nasser, Mary Wadie, Alyaa Farid, Azza El Amir","doi":"10.1007/s12291-023-01155-y","DOIUrl":"https://doi.org/10.1007/s12291-023-01155-y","url":null,"abstract":"","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"65 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136248798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}