Indian J Clin Biochem
· 2024 Jul · PMID 39005876
·
Full text
Several studies are published, that investigated dopamine receptor 2 (DRD2) gene TaqIA polymorphism as a risk factor for alcohol dependence (AD) with positive and negative associations. To derive a more precise estimatio...Several studies are published, that investigated dopamine receptor 2 (DRD2) gene TaqIA polymorphism as a risk factor for alcohol dependence (AD) with positive and negative associations. To derive a more precise estimation of the relationship, a meta-analysis of case-control studies that examined the association between DRD2 gene Taq1A polymorphism and alcohol dependence was performed. Eligible articles were identified through a search of databases including PubMed, Science Direct, Springer link, and Google Scholar. The association between the DRD2 TaqIA polymorphism and AD susceptibility was conducted using odds ratios (ORs) and 95% confidence intervals (95% CIs) as association measures. A total of 69 studies with 9125 cases and 9123 healthy controls were included in the current meta-analysis. Results of the present analysis showed significant association between DRD2 TaqIA polymorphism and AD risk using five genetic modes (allele contrast model-OR 1.22, 95% CI 1.13-1.32, < 0.0001; homozygote model-OR 1.35, 95%CI 1.18-1.55; ≤ 0.0001; dominant model-OR 1.29; 95% CI 1.20-1.39; < 0.0001; recessive model-OR 1.21; 95% CI 1.08-1.36; = 0.0006). There was no significant association found in subgroup analysis, TaqIA polymorphism was not significantly associated with AD risk in the Asian population under all genetic models, but in the Caucasian population, TaqIA polymorphism was significantly associated with AD risk. Overall, results support the hypothesis that DRD2 Taq1A polymorphism plays a role in alcohol dependence.
Sarkar K, Kashyap B, Jhamb R
… +3 more, Madhu SV, Avasthi R, Hyanki P
Indian J Clin Biochem
· 2024 Jul · PMID 39005875
·
Full text
Accurate diagnosis of pulmonary tuberculosis is largely based on sputum smear microscopy, culture, and GeneXpert MTB/RIF tests; culture being the gold standard. All these diagnostic tests require sputum sample to be posi...Accurate diagnosis of pulmonary tuberculosis is largely based on sputum smear microscopy, culture, and GeneXpert MTB/RIF tests; culture being the gold standard. All these diagnostic tests require sputum sample to be positive for , while many active TB patients often do not present with positive sputum. Biochemical markers play an important role in early diagnosis, disease prevention, and drug response in tuberculosis. This study aims to find the association of serum adenosine deaminase (a biomarker) with the various microbiological parameters like sputum smear microscopy, culture and CBNAAT in pulmonary tuberculosis patients. A total of 40 cases were collected from November 2019 to October 2021, and the presumptive cases of pulmonary tuberculosis diagnosed by Ziehl-Neelsen staining for acid fast bacilli and/or CBNAAT were recruited. Serum adenosine deaminase levels were estimated.The following variables were significantly associated ( < 0.05) with serum adenosine deaminase levels: age, sputum smear microscopy findings, time to culture positivity, CBNAAT category and Ct value (Mean).This study does witness few significant correlations between serum adenosine deaminase levels and various microbiological parameters used in diagnosis of TB, which can be further explored and utilised in diagnosis and treatment of pulmonary tuberculosis.
Rashid R, Shah IA, Makhdoomi MJ
… +4 more, Rashid A, Godha M, Ganai BA, Ganie MA
Indian J Clin Biochem
· 2024 Jul · PMID 39005872
·
Full text
Polycystic ovary syndrome (PCOS) and type-2 diabetes mellitus (T2DM) share common genetic features. Transcription factor 7-like-2 ) is consistently studied T2DM susceptibility locus. However, limited studies on have fai...Polycystic ovary syndrome (PCOS) and type-2 diabetes mellitus (T2DM) share common genetic features. Transcription factor 7-like-2 ) is consistently studied T2DM susceptibility locus. However, limited studies on have failed to demonstrate any link with the PCOS risk. Therefore, we investigated the association of polymorphic variant (rs12255372) with the PCOS risk. We recruited 120 PCOS cases, diagnosed as per Rotterdam 2003 criteria, and an equal number of age-matched controls. Besides a detailed clinical assessment, subjects underwent biochemical and hormonal profiling. Genotyping for rs12255372 was done by PCR-RFLP. Conditional logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (95%CIs) of genotype-phenotype correlations. The PCOS cases reported fewer menstrual cycles per year and exhibited signs of hyperandrogenism. The heterozygous genotype of rs12255372 was strongly associated with the PCOS risk (OR = 2.00; 95%CI: 1.07-3.76). Unlike controls, only 3 cases harbored TT genotype, and the PCOS risk persisted in the dominant model (GT + TT) as well. Moreover, we found a synergistic effect modification by the variant genotype in the subjects who had family histories of T2DM, hirsutism, or menstrual irregularities. We report a significant association of the polymorphic variant rs12255372 with the PCOS risk.
Hasona NA, Moneim AA, Mohammed EA
… +5 more, Twab NAA, Azeem AAA, Teryak GM, Ewiss SS, Khalil RG
Indian J Clin Biochem
· 2024 Jul · PMID 39005871
·
Full text
Inadequate management and control of hyperglycemia predisposes diabetic patients to a wide range of complications. Thus, this opens new windows for exploring and scrutinizing novel candidate biomarkers. This study was de...Inadequate management and control of hyperglycemia predisposes diabetic patients to a wide range of complications. Thus, this opens new windows for exploring and scrutinizing novel candidate biomarkers. This study was designed to scrutinize the relationship between HbA1c, osteocalcin, calcium, phosphorus, and expression levels of miR-143 and miR-145 in individuals with T1DM and explore their correlations and diagnostic potential for T1DM. 120 unrelated participants were included (i.e., 90 participants with type 1 diabetes mellitus and 30 healthy controls) and were allocated into two groups. Participants with T1DM were allocated into three subgroups (i.e., below 1 year, 1-8 years, and over 8 years) based on diabetic duration. Participants with T1DM experienced noticeable HbA1c elevation. However, osteocalcin, phosphorus, and calcium profiles notably declined in participants with diabetes compared with those in healthy controls. Moreover, the expression levels of miR-143 and miR-145 decreased in participants with diabetes with a significant difference between participants with diabetes and healthy controls. Additionally, significant alterations in HbA1c, osteocalcin, phosphorus, and calcium profiles and expression levels of miR-143 and miR-145 were observed with increasing diabetic duration (T1DM > 8 years compared with those with a diabetes duration of less than 1 year). This study suggests that miR-143 and miR-145 are prospective biomarkers of diabetes mellitus, which may help predict the progression of complications.
Yousefli Z, Meshkat Z, Ghayour-Mobarhan M
… +11 more, Hosseini SM, Tavallaie S, Kazemianfar E, Soltanian H, Aminzadeh A, Ghasemi A, Kashmari M, Nasiraee M, Meshkat M, Jarrahi L, Gholoobi A
Indian J Clin Biochem
· 2024 Jul · PMID 39005869
·
Full text
Heat Shock Protein 27 (HSP27), an anti-HBV factor, exists in the intracellular and extracellular spaces. As an inflammatory modulator, serum HSP27 (sHSP27) is associated with elevated pro-inflammatory cytokines and a hig...Heat Shock Protein 27 (HSP27), an anti-HBV factor, exists in the intracellular and extracellular spaces. As an inflammatory modulator, serum HSP27 (sHSP27) is associated with elevated pro-inflammatory cytokines and a higher likelihood of hepatocellular carcinoma in chronic hepatitis. SHSP27 results in natural antibody production (anti-HSP27-Ab) that is more stable and easily detectable compared to sHSP27. We aimed to investigate any potential association between anti-HSP27-Ab level and chronic hepatitis B (CHB) progression and inflammation indicated by liver cell injury and HBV replication. This cross-sectional study was conducted on 91 patients with CHB and 92 individuals without CHB. Following demographic data collection, anti-HSP27-Ab, serum lipids including total cholesterol, triglyceride, LDL-C, HDL-C, and aminotransferase levels were measured using enzymatic assays in participants' serum samples. HBV DNA was also measured by quantitative PCR in CHB patients. Bivariate and multivariate analyses showed a significantly higher mean level of anti-HSP27-Ab in CHB than in healthy individuals (0.304 vs. 0.256AU/ml, value = 0.015). These levels held significant differences in the CHB subgroups of male patients, at the age of 50 years and above, with non-smoking status, elevated aminotransferase levels, and hypotriglyceridemia ( value < 0.05). However, no difference was found between the antibody levels and HBV DNA copies ( value > 0.05). This study provides evidence that anti-HSP27 antibody levels can reflect the degree of liver necrosis indicated by aminotransferase levels. Regarding the higher incidence rate of HBV-associated complications in 50 to 60-year-old men, monitoring the antibody can be beneficial in managing this group of CHB patients, which deserves further investigation.
Dholariya S, Parchwani DN, Sonagra A
… +4 more, Singh R, Motiani A, Kaliya M, Anandani G
Indian J Clin Biochem
· 2024 Jul · PMID 39005868
·
Full text
The HbD Punjab trait is a less common hemoglobin variant in the Saurashtra region of Gujarat. This patient presented to the General Medicine and Biochemistry Department at All India Institute of Medical Sciences, Rajkot,...The HbD Punjab trait is a less common hemoglobin variant in the Saurashtra region of Gujarat. This patient presented to the General Medicine and Biochemistry Department at All India Institute of Medical Sciences, Rajkot, Hospital, for the HbA1 analysis by high-performance liquid chromatography (HPLC). The patient was 52 years old, a known case of type 2 diabetes mellitus and hypertension, and presented with complaints of generalized malaise and fatigability for the previous ten to twelve months. On physical examination, there was no evidence of pallor, lymphadenopathy, splenomegaly, or hepatomegaly. Peripheral blood smear revealed normocytic normochromic RBC, and platelets were adequate and normal in morphology. The HPLC analysis revealed heterozygous for hemoglobin D (HbD Punjab trait), and false high HbA1c corresponds to fasting plasma glucose (FPG) levels due to abnormal separation. However, genetic counseling is highly recommended to detect any potential reproductive risk factors.
Birdi A, Tomo S, Sharma M
… +4 more, Yadav P, Charan J, Sharma P, Yadav D
Indian J Clin Biochem
· 2024 Jul · PMID 39005867
·
Full text
Neuropsychiatric disorders are mainly concerned with the behavioural, emotional and cognition symptoms that may be due to disturbed cerebral functions or extracerebral disease. Klotho protein is an antiaging protein that...Neuropsychiatric disorders are mainly concerned with the behavioural, emotional and cognition symptoms that may be due to disturbed cerebral functions or extracerebral disease. Klotho protein is an antiaging protein that is mostly associated with cognitive changes in these disorders and thus this meta-analysis is conducted in order to find Klotho proteins association with these disorders. We searched related topics in pubmed, by using the key word i.e. Klotho and related disorder from neuropsychiatry e.g. Klotho levels and schizophrenia, Klotho levels and parkinsonism etc. Total 82 studies were found till 9th February 2021 after extensive search and 10 studies were selected for further analysis. The meta-analysis of studies was performed using the Random effect model. The forest plot represented each study in the meta-analysis, so as to make the comparison of SMD value across studies. The meta-analysis outcome demonstrated that overall schizophrenia had higher klotho levels as compared with bipolar disorder, psychosocial stress, parkinsonism, multiple sclerosis, depression, Alzheimer's disease, and healthy controls, followed by MS. The meta-analysis also found that bipolar disorder and Alzheimer's disease were associated with low klotho levels as compared to schizophrenia. The results indicate a significant association of the klotho levels and schizophrenia. Further studies are needed to characterize the potential biological roles of klotho levels in psychiatric disorders.
Indian J Clin Biochem
· 2024 Jul · PMID 39005866
·
Full text
UNLABELLED: Despite immense importance of reference intervals (RIs) for clinical diagnosis, there have been no reliable RIs available for Nepalese. Hence, this nationwide study was organized to establish RIs for 30 commo...UNLABELLED: Despite immense importance of reference intervals (RIs) for clinical diagnosis, there have been no reliable RIs available for Nepalese. Hence, this nationwide study was organized to establish RIs for 30 common biochemical parameters. This study was conducted following the harmonized protocol provided by IFCC Committee on Reference Interval and Decision Limits (C-RIDL) with recruitment of 617 apparently healthy volunteers (18 - 65 years) by near-equal gender balance from 5 major cities. Fasting blood were collected, serum was separated and measured collectively using Beckman-Coulter/Olympus AU480 chemistry analyzer. The sources of variations of reference values (RVs) were evaluated by multiple regression analysis and nested ANOVA. Latent abnormal values exclusion (LAVE) method was applied to reduce influence of latent diseases. RIs were standardized based on a value-assigned serum panel provided by C-RIDL. By ANOVA, no between-city differences were observed, while sex-related changes were typically noted for urate, creatinine, iron, γ-glutamyl transferase (GGT), immunoglobulin M, and transferrin, but not for high-density lipoprotein cholesterol. Age-related changes were observed for total cholesterol (TC), triglyceride, low-density lipoprotein cholesterol, and C-reactive protein (CRP). RIs were successfully derived all parametrically. The LAVE procedure was effective in lowering upper limits for aspartate aminotransferase, alanine aminotransferase (ALT), and CRP. Compared to other collaborating countries, Nepalese RIs were low for urea, cholesterols, ALT, and high for triglyceride, GGT, CRP, immunoglobulin G, and complements. The RIs for major chemistry analytes were derived and standardized for nationwide use in Nepal. This study distinctly elucidated sources of variation and international features of Nepalese RIs. SUPPLEMENTARY INFORMATION: The online version supplementary material available at 10.1007/s12291-023-01123-6.
Indian J Clin Biochem
· 2024 Jul · PMID 39005865
·
Full text
Chronic kidney disease (CKD) is one of the leading causes of mortality across the globe. Early diagnosis of the disease is important in order to prevent the adverse outcome related to CKD. Many laboratories adopt creatin...Chronic kidney disease (CKD) is one of the leading causes of mortality across the globe. Early diagnosis of the disease is important in order to prevent the adverse outcome related to CKD. Many laboratories adopt creatinine-based e-GFR equations which yields imprecise results leading to misdiagnosis of CKD. Emerging studies indicated cystatin C as a better renal marker than creatinine. The aim of the study is to compare the efficacy of CKD epidemiology collaboration (CKD-EPI) creatinine e-GFR equations with (CKD EPI) cystatin-based e-GFR equations alone and in combination with creatinine for early detection of CKD. A cross-sectional study employing 473 patients was conducted. Three estimating GFR equations were calculated based on creatinine and cystatin C. Pearson Correlation study was done to assess the correlation of creatinine and cystatin C with their respective GFRs. A predictive model was developed, and ROC curve was constructed to compare efficacy, sensitivity and specificity of the creatinine and cystatin C based equations. Cystatin C exhibited better negative correlation with GFR than creatinine in correlation study performed with three commonly employed eGFR equations including CKD EPI Creatine cystatin C combined equation (2021), cys C alone and CKD EPI creatinine (2021) equations respectively[r=(-) 0.801 vs. r=(-)0.786 vs. r=(-)0.773]. Predictive model demonstrated highest efficiency, sensitivity and specificity for creatinine-cystatin C combined equation (88%, 81% and 93%) followed by cystatin C alone equation (73%,63% and 82%) and creatinine-based equation (61%, 56% and 66% respectively). The study showed better performance of cystatin C based equations for early detection of advance stages in chronic kidney disease as compared to creatinine-based e-GFR equation.
Amirmahani F, Ebrahimi N, Askandar RH
… +3 more, Rasouli Eshkaftaki M, Fazeli K, Hamblin MR
Indian J Clin Biochem
· 2024 Jul · PMID 39005864
·
Full text
UNLABELLED: Prostate cancer (PCa) is the second most common cancer in men throughout the world, and the main cause of cancer death. Long noncoding RNAs (lncRNAs) act as crucial regulators in many human cancers. In this r...UNLABELLED: Prostate cancer (PCa) is the second most common cancer in men throughout the world, and the main cause of cancer death. Long noncoding RNAs (lncRNAs) act as crucial regulators in many human cancers. In this research, we measured the expression level of novel lncRNAs and their associated micro-RNAs (miRNAs) in PCa. In the present research, three lncRNAs were selected using the Mitranscriptome projec (CAT2064, CAT2042, and CAT2164.2). Samples of prostate tissue (20 PCa, and 20 BPH) and blood (14 PCa, and 14 BPH) were collected and the Real-time Quantitative Polymerase Chain Reaction (RT-qPCR) was used to measure the expression levels of the lncRNAs and their associated miRNAs. Based on our results, CAT2064 was significantly increased and CAT2042 was significantly decreased in human PCa tissue in comparison with BPH tissue. To discriminate PCa from BPH, CAT2064 ( < 0.05; 0.8750 AUC-ROC) showed a better potential as a diagnostic molecular biomarker compared to CAT2042 ( < 0.05; 0.8454 AUC-ROC). Furthermore, RT-qPCR results measured in blood samples from PCa patients showed a higher expression level of CAT2064 ( < 0.0001; AUC-ROC value of 0.8914) in comparison to CAT2042. CAT2064 and CAT2042 showed a positive correlation with the expression of miR-5095 and miR-1273a (r = 0.02885, 0.3202; = 0.9413, 0.2266, respectively). CAT2064 and CAT2042 also had a negative correlation with miR-1304-3p and miR-1285-5p (r = - 0.3877, - 0.09330; = 0.15, 0.7311, respectively). Collectively, CAT2064 and CAT2042 and their miRNA targets may constitute a regulatory network in PCa, and could serve as novel biomarkers. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12291-021-00999-6.
Nelaturi P, Kademani SP, Siva Subramanian V
… +1 more, Ravikumar S
Indian J Clin Biochem
· 2024 Jul · PMID 39005863
·
Full text
UNLABELLED: Increased alcohol intake over decades leads to progressive alcohol-related liver disease (ALD) and contributes to increased mortality. It is characterized by reduced platelet count. Platelets have a role in p...UNLABELLED: Increased alcohol intake over decades leads to progressive alcohol-related liver disease (ALD) and contributes to increased mortality. It is characterized by reduced platelet count. Platelets have a role in protecting vascular integrity and involved in liver regeneration. Alcohol affects the platelet count and its function. Platelet function is regulated by their proteins, released during pathophysiological conditions. Therefore, platelet proteome plays a vital role during ALD. This preliminary study consists of 10 patients with ALD. It includes the preparation of human platelets for the proteomic approach. We performed liquid chromatography-mass spectrometry for the samples. A total of 536 proteins were identified in patients with ALD of which 31 proteins were mentioned as a candidate based on their clinical significance. The advancement of diagnostic or therapeutic tools based on the application of platelet proteins in ALD is still far off. Platform for platelet and its proteome research may give diagnostic and prognostic insights into ALD. Platelet proteomes could possibly be concluded as therapeutic and potential diagnostic or prognostic markers in ALD. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12291-023-01120-9.
Indian J Clin Biochem
· 2024 Jul · PMID 39005862
·
Full text
War trauma has been linked to changes in the neuroendocrine and immunological systems and increases the risk of physical disorders. Traumatic events during the war may have long-term repercussions on psychological and bi...War trauma has been linked to changes in the neuroendocrine and immunological systems and increases the risk of physical disorders. Traumatic events during the war may have long-term repercussions on psychological and biological parameters in future generations, implying that traumatic stress may have transgenerational consequences. This article addresses how epigenetic mechanisms, which are a key biological mechanism for dynamic adaptation to environmental stressors, may help explain the long-term and transgenerational consequences of trauma. In war survivors, epigenetic changes in genes mediating the hypothalamus-pituitary-adrenal axis, as well as the immune system, have been reported. These genetic modifications may cause long-term changes in the stress response as well as physical health risks. Also, the finding of biomarkers for diagnosing the possibility of psychiatric illnesses in people exposed to stressful conditions such as war necessitates extensive research. While epigenetic research has the potential to further our understanding of the effects of trauma, the findings must be interpreted with caution because epigenetic molecular mechanisms is only one piece of a complicated puzzle of interwoven biological and environmental components.
Indian J Clin Biochem
· 2024 Jul · PMID 39005861
·
Full text
UNLABELLED: Pregnancy is associated with numerous metabolic adaptations to meet the demands of the growing foetus. These adaptations could be perturbed during pregnancy due to preeclampsia (PE) and gestational diabetes (...UNLABELLED: Pregnancy is associated with numerous metabolic adaptations to meet the demands of the growing foetus. These adaptations could be perturbed during pregnancy due to preeclampsia (PE) and gestational diabetes (GDM). As these two obstetric aliments show some overlapping pathophysiology and similar biochemical dysregulation, the present study was undertaken to compare urine metabolome of PE and GDM with normal pregnancy (NT) in all trimesters of gestation using nuclear magnetic resonance spectroscopy-based metabolomics analysis to ascertain and compare metabolome in the study groups. We observed overlapping metabolic perturbations in PE and GDM. Though a study with a small sample size, this is the first report which confirms significantly differential metabolites in urine of both PE and GDM. Dimethylglycine and oxoglutaric acid were decreased while benzoic acid was increased in both the cases in all trimesters. Alanine, aspartate and glutamate metabolism, aminoacyl-tRNA biosynthesis, citrate and butanoate metabolism were the most perturbed pathways in both PE and GDM across pregnancy. These pathways have an association with energy metabolism, glucose homeostasis, insulin sensitivity and oxidative stress which play an important role in the development and progression of PE and GDM. In conclusion, our study showed that urine metabolome could reflect metabolic associations between PE and GDM and also in the identification of biomolecules that could be used as potential biomarker(s) for early detection of the metabolic diseases in pregnancy. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12291-022-01103-2.
Singh S, Hussain S, Yadav SS
… +4 more, Tiwari NP, Usman K, Sawlani KK, Khattri S
Indian J Clin Biochem
· 2024 Jul · PMID 39005860
·
Full text
Adipsin is an anti-inflammatory adipokines and its altered level was seen in obesity and type II DM. Our study investigated the clinical significance of serum adipsin levels as a risk marker for type 2 diabetes and its r...Adipsin is an anti-inflammatory adipokines and its altered level was seen in obesity and type II DM. Our study investigated the clinical significance of serum adipsin levels as a risk marker for type 2 diabetes and its relationships with insulin resistance and various adipo-cytokines. The study included 110 treatment-naïve T2DM cases and 100 controls of similar age and gender from northern India. Clinical, biochemical, and anthropometric characteristics were all profiled. Serum adipo-cytokines were measured using ELISA methods. Adipsin was significantly inversely correlated with body mass index (BMI), waist circumference, fasting plasma glucose, glycated haemoglobin (HbA1C), total cholesterol (TC), triglyceride (TG), homeostasis model assessment-estimated insulin resistance (HOMA-IR), tumour necrosis factor- (TNF-) and interleulin-6 (IL-6) and positively correlated with high-density lipoprotein cholesterol (HDL-C) and homeostasis model assessment of -cell function (HOMA-B) ( < 0.05). T2DM occurrence decreased with increasing concentration of adipsin with an odds ratio (OR) of 0.68 (95% CI = 0.58-0.79), < 0.001. The area under curve (95% CI) for adipsin was 0.70 (0.63 to 0.76) with < 0.001. The best cutoff value for adipsin to predict T2DM was < 5.50 µg/ml with 47.27% sensitivity and 82.00% specificity. FPG and WC were both independent predictors of serum adipsin levels. Our findings showed that high adipsin levels reduced the likelihood of T2DM and emerged as a potential risk marker in the prediction of T2DM.
Indian J Clin Biochem
· 2024 Jul · PMID 39005859
·
Full text
This study investigated different bone biomarkers (cross-linked carboxy-terminal telopeptide of type 1 collagen (CTX-1), pyridinoline (PYD), osteocalcin (OC), interleukin-6 receptor (IL-6R), calcium (Ca), and magnesium (...This study investigated different bone biomarkers (cross-linked carboxy-terminal telopeptide of type 1 collagen (CTX-1), pyridinoline (PYD), osteocalcin (OC), interleukin-6 receptor (IL-6R), calcium (Ca), and magnesium (Mg)) in terms of their metabolism in 4 different leukemia subtypes (ALL, AML, CLL and CML). The design was case control study with 30 controls and 60 cases of leukemia patients. Authors have reported many results regarding decrease as well as increase of specific bone biomarker under investigation with each leukemia subtype when compared to control. In addition, Authors reported correlations between each biomarker level and leukemia subtypes.
Sinha S, Dutta AK, Bhattacharya P
… +2 more, Bhattacharya S, Das MK
Indian J Clin Biochem
· 2024 Apr · PMID 38577149
·
Full text
UNLABELLED: There is limited data available regarding the clinical utility of routine molecular diagnosis of β Thalassaemia in addition to HPLC-based screening in low resource settings. The current study highlights the c...UNLABELLED: There is limited data available regarding the clinical utility of routine molecular diagnosis of β Thalassaemia in addition to HPLC-based screening in low resource settings. The current study highlights the caveats of an HPLC-based screening compared to the inclusion of genetic confirmation as a second-tier test and its implications in terms of genotype-phenotype correlation. A prospective, institution-based, observational study was conducted at the Department of Paediatric Medicine, including 103 children aged up to 12 years. Five common mutations for β Thalassemia and the HbE mutation in the gene were tested by a two-tiered approach using multiplex ARMS PCR and PCR RFLP methods respectively. Sanger sequencing of all three exons of the gene was performed in all negative cases. Sequencing revealed many rare pathogenic mutations like c.316-106 C > G (dbSNP: 34,690,599); Hb Kairouan (c.92G > C); c.33 C > A (dbSNP rs35799536); c.47G > A (dbSNP rs63750783); c.51delC (HbVar ID 799); c.[93-2 A > C] and c.118 C > T (HbVar ID 845). We detected a novel Pathogenic M_000518.5():c.164_168delinsGGCATCA (p.Val55fs) mutation in a heterozygous state which was reported in the ClinVar database with accession ID VCV000590977.2. We also encountered several cases of silent carrier on HPLC and de novo occurrence of mutation. We conclude that the multiplex touchdown ARMS PCR methodology employed in the present study provides a low-cost solution for molecular diagnostics of Β Thalassaemia. The problem of silent carriers in HPLC is significant enough to rethink if we need supplemental genetic testing in the couple when one of the partners is a carrier. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12291-022-01098-w.
Panda S, Tiwari A, Kumar V
… +3 more, Luthra K, Kumar K, Singh A
Indian J Clin Biochem
· 2024 Apr · PMID 38577148
·
Full text
Vitamin-D is known to promote innate immune responses by acting as a cofactor of VDR for induction of antimicrobial peptides like cathelicidin. Close household contacts of pulmonary tuberculosis patients are at high risk...Vitamin-D is known to promote innate immune responses by acting as a cofactor of VDR for induction of antimicrobial peptides like cathelicidin. Close household contacts of pulmonary tuberculosis patients are at high risk of active infection, Therefore, possible role of vitamin-D in TB prevention through cathelicidin production was studied in high-risk household contacts (HHCs) of pulmonary tuberculosis (PTB) patients. 20 HHCs of PTB patients were recruited and followed up for one year. Levels of vitamin-D (25(OH)D) and its associated molecules were evaluated at 3-months intervals for one year or until the development of active TB. 25(OH)D was measured using chemiluminescence method. Serum VDR and cathelicidin levels were measured by ELISA and VDR mRNA expression by qPCR. Throughout the study period mean range of serum 25(OH)D levels was 20.51 ± 5.12 ng/ml. VDR and cathelicidin levels however showed significant decline after six months suggesting decrease in bacterial exposure. None of the HHCs developed active infection even with high exposure to 2 + to 3 + AFB positive index cases. Mantoux positive household contacts had high levels of VDR and cathelicidin, suggestive of an early or latent phase of infection, did not develop active TB plausibly due to maintenance of adequate serum levels of vitamin-D. Optimal levels of 25(OH)D and its associated molecules during early stages of infection may serve as protective factor against development of active TB. Cohort of HHCs with severely deficient vitamin-D levels (10 ng/ml) could be followed up for a better risk assessment.