Effect of irrigation on wild and inbred maize with relation to the antioxidant status of pollens, flag leaves, and developing grains.

The investigation was carried out to evaluate the net effect of limited irrigation on the antioxidant status of pollens, flag leaves, and developing grains of wild and inbred maize lines. Teosinte pollens showed the highest activities of superoxide dismutase (SOD), catalase (CAT), glutathione reductase (GR), glutathione-s-transferase (GST), and peroxidase (POX) under stressful conditions while LM 11 showed a significant decrease in APX, CAT, GR, and GST activities. Limited irrigations increased the contents of superoxide and malondialdehyde (MDA) to maximum levels in LM 11 leaves. The pollens, leaves, and developing grains of teosinte had the highest content of total phenols. Proline was maximum in the developing grains of teosinte and CML 32 while lowest in those of LM 11. Principal component analysis showed that LM 11 genotype and the respective antioxidant enzymes were in completely opposite quadrants. Chord analysis showed that CAT activity and total phenol content in pollens, leaves, and developing grains contributed towards most of the variations observed in teosinte and might be responsible for managing the yield attributes of genotype during stress conditions. The pollens and leaves of teosinte, with significant SOD activity, further helped in optimizing plant yield, under stressful conditions. CML 32 occupied intermediate position owing to the unaffected activities of most of the antioxidant enzymes and high content of antioxidants in its tissues. It may be concluded that the overall antioxidant status of tissues decides the tolerance behavior of plants.

A Community-Based Study of Antenatal and Neonatal Risk Factors in Autism Spectrum Disorder.

Objective: To assess children in the community for autism spectrum disorder (ASD) and associated risk factors.Methods: In this 2-stage, cross-sectional study, children between 1.5 and 10 years of age were screened using the Chandigarh Autism Screening Instrument. Those with a score above the cutoff of 10 were assessed in detail using the Childhood Autism Rating Scale and the Autism Diagnostic Interview-Revised, and a detailed pediatric assessment was conducted. Risk factors were evaluated, and karyotype and fragile X genetic testing was done for those diagnosed with ASD. The study was conducted from July 2014 to December 2017.Results: Compared to the control group, mothers of ASD children had more pregnancy-induced hypertension (PIH) and bleeding per vaginum (BPV) during the antenatal period. In the multivariate analysis, there was 6.3 times higher odds of having history of PIH (P = .02) and 7.7 times higher odds of BPV (P = .011) among children with ASD. There were much higher odds of having birth asphyxia (OR = 12.6), cardiorespiratory problems (OR = 10), metabolic abnormalities (hypoglycemia/ hypocalcemia) (OR = 12), and neonatal sepsis (OR = 16) in the ASD group compared to controls.Conclusions: ASD patients experienced more antenatal and neonatal problems compared to controls.Trial Registration: Clinical Trials Registry-India (CTRI/2017/02/007935).

Morphological and antioxidant responses of Cicer arietinum L. genotypes exposed to combination stress of anthracene and sodium chloride.

Various mutagenic, carcinogenic pollutants such as Polycyclic Aromatic Hydrocarbons (PAHs) are released into the environment posing a negative effect on plant metabolism. All the pollutants that are emitted into the atmosphere, ultimately find their way into the plant. Soil salinity stress is one of the major determinants of crop productivity. Different plants respond differently to different abiotic stress present alone or in combination. One such combination of abiotic stress is PAHs and salinity stress. The present research aims to study the effect of the application of NaCl and Anthracene alone and in various combinations on two chickpea genotypes GPF2 and PDG4. A 21 days laboratory experiment was conducted in petriplates and growth pouches. Different concentrations of NaCl and Anthracene were given to two chickpea genotypes viz. GPF2 and PDG4, alone as well as in combinations to study morphological, physiological and antioxidant responses. Results obtained were further analyzed by using various statistical measures such as Principle Component Analysis and Two-way ANOVA. Results indicated that under the dual presence of NaCl and Anthracene, GPF2 exhibited higher activities of antioxidant enzymes and was shown to have a negative correlation with plant height and chlorophyll content. Based on the results of the present investigation, it was concluded that GPF2 was a better performing chickpea genotype towards the combined presence of Anthracene and NaCl as compared to PDG4.

Telomerase enzyme activity in patients with major depressive disorder: A pre and post-treatment study.

BACKGROUND: Telomerase is a cellular enzyme that prevents telomere shortening and promoting viability. The literature has reported shortened telomere length in patients with major depressive disorder (MDD). METHODS: 35 patients with diagnosis of major depressive disorder (MDD) fulfilling DMS-5 criteria in the age range of 18-60 years, treatment-naïve after assessing the severity on HAM-D and HAM-A and 35 age and sex matched healthy controls were included in the study. Baseline peripheral blood monocytes (PBMC) telomerase enzyme was assessed in cases and controls and repeated in cases of MDD at 8th week after intervention with escitalopram for 8 weeks. RESULTS: Pretreatment telomerase activity (TA) was elevated in cases as compared to controls and it was also significantly correlated to the severity of depression (p = 0.00). There was a significant positive difference in telomerase activity between non-responders (higher TA) and responders at baseline (p = 0.001) and 8th week (p = 0.012). The TA did not vary significantly amidst pretreatment and post-treatment, although it was slightly lower in the post-treatment group. LIMITATIONS: The study has few limitations in the form of small sample size, shorter duration of follow-up, and leucocyte telomeres length (LTL) was not assessed. CONCLUSION: The index study concludes that TA is higher in drug naïve patients with MDD than age and sex matched healthy control. The non-responders had significantly higher TA as compared to responders at baseline and post-treatment which indicates TA as a potential biomarker in the underlying biological mechanism of MDD and in response to antidepressant pharmacotherapy.

Features of Hemophagocytic Lymphohistiocytosis in Infants With Severe Combined Immunodeficiency: Our Experience From Chandigarh, North India.

Background: Hemophagocytic lymphohistiocytosis (HLH) is characterized by uncontrolled and excessive inflammation leading to high mortality. Aetiology of HLH can be primarily due to genetic causes or secondarily due to infections or rheumatological illness. However, rarely T-cell deficiencies like severe combined immunodeficiency (SCID) can develop HLH. Objective: To describe clinical and laboratory features of SCID cases who developed HLH. Methods: We collected clinical, laboratory, and molecular details of patients with SCID who developed HLH at our center at Chandigarh, North India. Results: Of the 94 cases with SCID, 6 were noted to have developed HLH-like manifestations. Male-female ratio was 5:1. Median (inter-quartile range) age of onset of clinical symptoms was 4.25 months (2-5 months). Median (inter-quartile range) delay in diagnosis was 1 month (1-3.5 months). Family history of deaths was seen in 4 cases. Molecular defects in IL2RG were seen in 5 out of 6 cases. Documented infections include disseminated bacillus calmette-guerin (BCG) infection (n=2), blood stream infections (n=3) with Staphylococcal aureus (n=1), Klebsiella pneumonia (n=1), and Pseudomonas aeruginosa (n=1), pneumonia (influenza H1N1 strain, and K. pneumoniae (n=1). Conclusion: Children with SCID can present with HLH-like manifestations secondary to fulminant infections. A high index of suspicion of SCID is needed in infants who present with HLH who have an associated infection or a suggestive family history. Occurrence of HLH-like manifestations in SCID suggests that T-lymphocytes may not have a significant role in immunopathogenesis of HLH.

A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia.

PURPOSE: Specific granule deficiency (SGD) is a rare inborn error of immunity resulting from loss-of-function variants in CEBPE gene (encoding for transcription factor C/EBPε). Although this genetic etiology has been known for over two decades, only a few patients with CEBPE variant-proven SGD (type I) have been reported. Herein, we describe two siblings with a novel homozygous CEBPE deletion who were noted to have profound neutropenia on initial evaluation. We aimed to evaluate the immunohematological consequences of this novel variant, including profound neutropenia. METHODS: Light scatter characteristics of granulocytes were examined on various automated hematology analyzers. Phagocyte immunophenotype, reactive oxygen species generation, and Toll-like receptor (TLR) signaling were assessed using flow cytometry. Relative expression of genes encoding various granule proteins was studied using RT-PCR. Western blot analysis and luciferase reporter assay were performed to explore variant C/EBPε expression and function. RESULTS: Severe infections occurred in both siblings. Analysis of granulocyte light scatter plots revealed automated hematology analyzers can provide anomalously low neutrophil counts due to abnormal neutrophil morphology. Neutrophils displayed absence/marked reduction of CD15/CD16 expression and overexpression (in a subset) of CD14/CD64. Three distinct populations of phagocytes with different oxidase activities were observed. Impaired shedding of CD62-ligand was noted on stimulation with TLR-4, TLR-2/6, and TLR-7/8 agonists. We demonstrated the variant C/EBPε to be functionally deficient. CONCLUSION: Homozygous c.655_665del variant in CEBPE causes SGD. Anomalous automated neutrophil counts may be reported in patients with SGD type I. Aberrant TLR signaling might be an additional pathogenetic mechanism underlying immunodeficiency in SGD type I.

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Inborn errors of immunity (IEI) are a heterogeneous group of monogenic disorders that include primary immunodeficiency's and other disorders affecting different aspects of the immune system. Next-Generation Sequencing (NGS) is an essential tool to diagnose IEI. We report our 3-year experience in setting up facilities for NGS for diagnosis of IEI in Chandigarh, North India. We used a targeted, customized gene panel of 44 genes known to result in IEI. Variant analysis was done using Ion Reporter software. The in-house NGS has enabled us to offer genetic diagnoses to patients with IEI at minimal costs. Of 121 patients who were included pathogenic variants were identified in 77 patients. These included patients with Chronic Granulomatous Disease, Severe Combined Immune Deficiency, leukocyte adhesion defect, X-linked agammaglobulinemia, Ataxia Telangiectasia, Hyper-IgE syndrome, Wiskott Aldrich syndrome, Mendelian susceptibility to mycobacterial diseases, Hyper-IgM syndrome, autoimmune lymphoproliferative syndrome, and GATA-2 deficiency. This manuscript discusses the challenges encountered while setting up and running targeted NGS for IEI in our unit. Genetic diagnosis has helped our patients with IEI in genetic counselling, prenatal diagnosis, and accessing appropriate therapeutic options.

Pediatric systemic lupus erythematosus: phagocytic defect and oxidase activity of neutrophils.

BACKGROUND: There are limited data on neutrophil function in pediatric-onset systemic lupus erythematosus (pSLE) patients. This study aimed to evaluate phagocytosis and oxidase activity of neutrophils in patients with pSLE. PATIENTS AND METHODS: Eighty-seven patients with pSLE and 44 controls were enrolled. Phagocytic activity was assayed using pHrodoTMRed E. coli BioParticles Phagocytosis Kit by flow cytometry. Determination of NADPH oxidase activity was carried out by Dihyrdrorhodamine-123 (DHR-123) flow cytometry assay. RESULTS: Phagocytic activity of patients' neutrophils (mean 76.59%) was lower than that in controls (91.30%) (p < 0.001). Median delta median fluorescence intensity (ΔMFI) and stimulation index (SI) in patients (ΔMFI: 0.09; SI: 2.79) were also decreased compared to controls (ΔMFI: 0.18; SI: 5.00) (p < 0.002; p < 0.001 respectively). Disease activity showed an inverse correlation with phagocytic activity. Oxidase activity was also significantly low (SI DHR < 40) in 16% of patients. No significant correlation was found between oxidative burst and disease activity. CONCLUSION: Neutrophil function is impaired in patients with pSLE, as evidenced by the markedly reduced phagocytic activity. Phagocytic activity is also inversely correlated with disease activity. The oxidative activity was also reduced but not significantly. IMPACT: Neutrophil phagocytic function is impaired in pediatric-onset systemic lupus erythematosus (pSLE). There is an inverse correlation between disease activity in pSLE and phagocytic activity. NADPH oxidase activity in patients with pSLE did not show significant correlation with disease activity.

Utility of Immunohistochemistry and Immunofluorescence in Determining the Pathogenic Variants of Chronic Granulomatous Disease.

BACKGROUND: Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes due to defects in any of the five subunits of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. An initial diagnosis of CGD is made by flow cytometry-based dihydrorhodamine assay or nitro blue tetrazolium test, which is further confirmed by molecular assays. Expression of five subunits of NADPH oxidase components by either flow cytometric or western blot analysis provides clues toward the potential gene targets which are subsequently confirmed by various genetic assays. Immunohistochemistry (IHC) and immunofluorescence (IF) have never been earlier used to determine the expression of different subunits of NADPH oxidase system. We evaluated the utility of IHC and IF in determining the underlying pathogenic variants of CGD. MATERIALS AND METHODS: Twelve genetically confirmed cases of CGD, comprising of biopsy specimens (n = 6), tissue blocks from autopsy cases (n = 3), and cellblocks of cell pellet prepared from peripheral blood (n = 4) were included. IHC for p67phox and p47phox subunits and IF for cytochrome b558 were performed. RESULTS: All 4 cases with pathogenic variation of NCF2 gene showed loss of expression for p67phox subunit. Two cases with pathogenic variation of NCF1 gene showed loss of expression for p47phox subunit. Five cases, except a single case with CYBB gene pathogenic variation, showed loss of expression for cytochrome b558 on IF. Thus, loss of expression consistently matched with the underlying genetic defects assessed by sequencing. CONCLUSIONS: Our results confirm our hypothesis that IHC and IF are two rapid, economical, pathologist-friendly techniques providing pertinent information regarding the underlying pathogenic variants and such immuno-analysis can be easily performed on the tissue.

Awakening a Molecular Mummy: The Inter-and Intramolecular Photochemistry of Pyromellitic Diimides with Alkyl Carboxylates.

Pyromellitic acid diimides are not as chemically unreactive as conjecturable (and presupposed) from their numerous applications as electron acceptor units or electron carriers in molecular donor-acceptor dyads or triads. Similar to the corresponding phthalimides, electronically excited pyromellitic diimides oxidize alkyl carboxylates in aqueous solution via intermolecular electron transfer (PET) processes, which eventually results in radical-radical combination products, e.g., the benzylation product 6 from N,N'-dimethyl pyromellitic diimide 5. The analogous product 7 was formed with pivalic acid as tert-butyl radical source. One additional product 8 was isolated from alkylation/dearomatization and multiple radical additions, respectively, after prolonged irradiation. In intramolecular versions, from N-carboxyalkylated pyromellitic diimides 9a-e (C1 to C5-spaced), degradation processes were detected, e.g., the cyclization products 10 from the GABA substrate 9c. In sharp contrast to phthalimide photochemistry, the green pyromellitic diimide radical anion was detected here by UV-vis absorption (λabs = 720 nm), EPR (from 9d), and NMR spectroscopy for several intramolecular electron transfer examples. Only the yellow 1,4-quinodial structure is formed from intermolecular PET, which was deduced from the absorption spectra (λabs = 440 nm) and the subsequent chemistry. The pyromellitimide radical anion lives for hours at room temperature in the dark, but is further degraded under photochemical reaction conditions.

Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children.

Hair, having distinct stages of growth, is a dynamic component of the integumentary system. Nonetheless, derangement in its structure and growth pattern often provides vital clues for the diagnosis of systemic diseases. Assessment of the hair structure by various microscopy techniques is, hence, a valuable tool for the diagnosis of several systemic and cutaneous disorders. Systemic illnesses like Comel-Netherton syndrome, Griscelli syndrome, Chediak Higashi syndrome, and Menkes disease display pathognomonic findings on hair microscopy which, consequently, provide crucial evidence for disease diagnosis. With minimal training, light microscopy of the hair can easily be performed even by clinicians and other health care providers which can, thus, serve as a useful tool for disease diagnosis at the patient's bedside. This is especially true for resource-constrained settings where access and availability of advanced investigations (like molecular diagnostics) is a major constraint. Despite its immense clinical utility and non-invasive nature, hair microscopy seems to be an underutilized diagnostic modality. Lack of awareness regarding the important findings on hair microscopy may be one of the crucial reasons for its underutilization. Herein, we, therefore, present a comprehensive overview of the available methods for hair microscopy and the pertinent findings that can be observed in various diseases.

Pharmacotherapy of schizophrenia: immunological aspects and potential role of immunotherapy.

INTRODUCTION: Schizophrenia is a complex disorder owing to diversity in clinical phenotypes, overlapping symptoms, and heterogeneous clinical presentation. Even after decades of research, the exact causative mechanisms of schizophrenia are not completely known. Recent evidence indicates the role of immune dysfunction in schizophrenia pathogenesis as observed from alteration in immune cells, increased activity of complement cascade, and development of autoantibodies against neurotransmitter receptors. Immunotherapy involving immunosuppressants and cytokine-targeting drugs, have shown promising results in several clinical studies and it demands further research in this area. AREAS COVERED: Here, the authors review the immunopathogenesis of schizophrenia, limitations of conventional, and atypical antipsychotic drugs and the potential role and limitations of immunotherapeutic drugs in schizophrenia management. EXPERT OPINION: Schizophrenia is a complex disorder and poses a challenge to the currently available treatment approaches. Nearly 30% schizophrenia patients exhibit minimal response toward conventional and atypical antipsychotic drugs. Immune system dysfunction plays an important part of schizophrenia pathophysiology and existing monoclonal antibody (mAb) drugs targeting specific components of the immune system are being repositioned in schizophrenia. The authors call upon public and private funders to facilitate urgent and rigorous research efforts in exploring potential role of immunotherapy in schizophrenia.

Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India.

Background: Chronic granulomatous disease (CGD) is an inherited defect in phagocytic respiratory burst that results in severe and life-threatening infections in affected children. Single center studies from India have shown that proportion of autosomal recessive (AR) CGD is more than that reported from the West. Further, affected patients have high mortality rates due to late referrals and difficulties in accessing appropriate treatment. However, there is lack of multicentric collaborative data on CGD from India. Objective: To describe infection patterns, immunological, and molecular features of CGD from multiple centers in India. Methods: A detailed proforma that included clinical and laboratory details was prepared and sent to multiple centers in India that are involved in the care and management of patients with inborn errors of immunity. Twelve centers have provided data which were later pooled together and analyzed. Results: Of the 236 patients analyzed in our study, X-linked and AR-CGD was seen in 77 and 97, respectively. Male female ratio was 172:64. Median age at onset of symptoms and diagnosis was 8 and 24 months, respectively. Common infections documented include pneumonia (71.6%), lymphadenitis (31.6%), skin and subcutaneous abscess (23.7%), blood-stream infection (13.6%), osteomyelitis (8.6%), liver abscess (7.2%), lung abscess (2.9%), meningoencephalitis (2.5%), splenic abscess (1.7%), and brain abscess (0.9%). Forty-four patients (18.6%) had evidence of mycobacterial infection. Results of molecular assay were available for 141 patients (59.7%)-CYBB (44.7%) gene defect was most common, followed by NCF1 (31.9%), NCF2 (14.9%), and CYBA (8.5%). While CYBA variants were documented only in Southern and Western parts of India, a common dinucleotide deletion in NCF2 (c.835_836delAC) was noted only in North Indian population. Of the 174 patients with available outcome data, 67 (38.5%) had expired. Hematopoietic stem cell transplantation was carried out in 23 patients, and 12 are doing well on follow-up. Conclusions: In India, proportion of patients with AR-CGD is higher as compared to Western cohorts, though regional differences in types of AR-CGD exist. Clinical profile and mortality rates are similar in both X-linked and AR-CGD. However, this may be a reflection of the fact that milder forms of AR-CGD are probably being missed.

Phosphorylation of steroid receptor coactivator-3 (SRC-3) at serine 857 is regulated by the p38MAPK-MK2 axis and affects NF-κB-mediated transcription.

Steroid receptor coactivator-3 (SRC-3) regulates the activity of both nuclear hormone receptors and a number of key transcription factors. It is implicated in the regulation of cell proliferation, inflammation and in the progression of several common cancers including breast, colorectal and lung tumors. Phosphorylation is an important regulatory event controlling the activities of SRC-3. Serine 857 is the most studied phospho-acceptor site, and its modification has been reported to be important for SRC-3-dependent tumor progression. In this study, we show that the stress-responsive p38MAPK-MK2 signaling pathway controls the phosphorylation of SRC-3 at S857 in a wide range of human cancer cells. Activation of the p38MAPK-MK2 pathway results in the nuclear translocation of SRC-3, where it contributes to the transactivation of NF-kB and thus regulation of IL-6 transcription. The identification of the p38MAPK-MK2 signaling axis as a key regulator of SRC-3 phosphorylation and activity opens up new possibilities for the development and testing of novel therapeutic strategies to control both proliferative and metastatic tumor growth.

Foliar treatment of potassium nitrate modulates the fermentative and sucrose metabolizing pathways in contrasting maize genotypes under water logging stress.

The effect of potassium nitrate on the status of fermentative and sucrose metabolizing pathways was studied in two maize (Zea mays L.) genotypes, viz., LM 5 (relatively susceptible to flooding) and I 167 (relatively tolerant to flooding) under water logging stress. The higher increase in pyruvate decarboxylase, alcohol dehydrogenase and aldehyde dehydrogenase activities in the hypoxic roots of I 167 seedlings over LM 5 showed the former's efficient tolerance mechanism towards anaerobic conditions. Foliar application of KNO3 reduced these enzymatic activities in the roots of both the genotypes. The shoots of I 167 seedlings also showed a parallel increase in alcohol dehydrogenase and pyruvate decarboxylase activities under water logging stress. These enzymatic activities, however, remained unaffected in shoots of water logged LM 5 seedlings. There was a higher decrease in acid and alkaline invertase activities in the hypoxic roots of I 167 seedlings. KNO3 treatment led to higher acid invertase activity in roots of I 167 seedlings than those of LM 5. Sucrose synthase (synthesis) and sucrose phosphate synthase activities decreased, but sucrose synthase (breakdown) activity increased in the roots of both the genotypes, during water logging. KNO3 increased sucrose synthesizing activities with a parallel increase in the sucrose content of the roots. Sucrose synthesis was comparatively unaffected in I 167 shoots under water logging stress while LM 5 shoots showed higher reduction in its sucrose synthase (synthesis) and sucrose phosphate synthase activities. It may thus be concluded that KNO3 induced a network of reactions for improving water logging tolerance. The nitrate ions acted as an alternate electron acceptor and thus reduced the activities of fermentative enzymes. It promoted the funneling of sugars into the glycolytic pathway by inducing the activities of acid and alkaline invertases in the roots and shoots of maize genotypes. It also directed the hexoses towards biosynthetic pathway by increasing the activities of sucrose synthesizing enzymes.

Effect of osmo priming on sucrose metabolism in spring maize, during the period of grain filling, under limited irrigation conditions.

The present study was undertaken to study the effect of osmo priming on sucrose metabolism of spring maize, under limited irrigation conditions. Osmo priming increased the activities of acid invertase, alkaline invertase and sucrose synthase (cleavage) and the contents of reducing sugars and starch in the grains of stressed plants. There was also an increase in sucrose phosphate synthase activity with a parallel increase in sucrose content in leaves of stressed plants in comparison with those of hydro priming treatment. It showed that osmo priming helped in improving sucrose phosphate synthase activity in leaves of plants, leading to higher sucrose content, under stress conditions.

Flow Cytometry for Diagnosis of Primary Immune Deficiencies-A Tertiary Center Experience From North India.

Flow cytometry has emerged as a useful technology that has facilitated our understanding of the human immune system. Primary immune deficiency disorders (PIDDs) are a heterogeneous group of inherited disorders affecting the immune system. More than 350 genes causing various PIDDs have been identified. While the initial suspicion and recognition of PIDDs is clinical, laboratory tools such as flow cytometry and genetic sequencing are essential for confirmation and categorization. Genetic sequencing, however, are prohibitively expensive and not readily available in resource constrained settings. Flow cytometry remains a simple, yet powerful, tool for multi-parametric analysis of cells. While it is confirmatory of diagnosis in certain conditions, in others it helps in narrowing the list of putative genes to be analyzed. The utility of flow cytometry in diagnosis of PIDDs can be divided into four major categories: (a) Enumeration of lymphocyte subsets in peripheral blood. (b) Detection of intracellular signaling molecules, transcription factors, and cytokines. (c) Functional assessment of adaptive and innate immune cells (e.g., T cell function in severe combined immune deficiency and natural killer cell function in familial hemophagocytic lymphohistiocytosis). (d) Evaluation of normal biological processes (e.g., class switching in B cells by B cell immunophenotyping). This review focuses on use of flow cytometry in disease-specific diagnosis of PIDDs in the context of a developing country.

An association study of dopaminergic (DRD2) and serotoninergic (5-HT2) gene polymorphism and schizophrenia in a North Indian population.

The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) in DRD2 and 5-HT2 receptor genes are associated with schizophrenia in North Indian population. Four hundred forty-three patients who met ICD10-DCR criteria for schizophrenia were enrolled from six participating centers along with 443 genetically related healthy subjects and 150 genetically unrelated healthy participants. A total of 7 gene polymorphisms from DRD2 (rs1800497, rs1079597, rs1800498, rs1801028) and 5-HT2 A (rs6313, rs6311, rs6305) were genotyped for their association with schizophrenia. No significant difference was found in frequency of various genotypes and alleles of the studied markers for DRD2 and 5-HT2 A genes between the cases and their genetic controls. However, significant differences were noted for rs1079597 genotype (Taq1B; p = 0.039) and its allele frequencies (p = 0.029) in persons with schizophrenia and the unrelated healthy controls. The DRD2 (Taq1 A-B-D) and 5-HT2 A (rs6311-rs6313-rs6305) haplotype frequencies differed significantly for A2B1D2 [p = 0.038; OR = 0.685 (95%CI = 0.479-0.981)] and ACC [p = 0.001; OR = 0.621 (95%CI = 0.461-0.838)] for the cases vs genetically related healthy controls. Similarly, significant difference was observed for the frequencies of GCC [p = 0.006; OR = 0.692 (95%CI = 0.532-0.900)] and ACC [p < 0.001; OR = 3.622 (95%CI = 1.73-7.585)] in the cases and unrelated healthy controls. Unlike previous research from India as well as abroad, the predominance of B1 allele of rs1079597 in patients with schizophrenia and absence of Cys311 in all study participants is a salient difference. Concluding, the B2 allele of rs1079597 may increase the risk of schizophrenia while the A2B1D2 haplotype may be protective in North Indian population.

Serial profile of flow-mediated dilatation in primigravida for prediction of preeclampsia and gestational hypertension.

OBJECTIVE: Assessment of endothelial dysfunction for prediction of gestational hypertension/preeclampsia (GH/PE). METHODS: Serial assessment of flow-mediated vasodilatation (FMD) of brachial artery was done in first, second, and third trimesters, and within 6 weeks of delivery in primigravida (n = 654). Logistic regression was used to assess the predictive value of FMD for the development of GH/PE. RESULTS: Significant fall in FMD was observed from first trimester to third trimester but decrease in FMD in GH/PE group (57%) was more marked as compared to normal (39%) (p < 0.01). FMD (third trimester) was able to predict the development of GH/PE (OR = 1.303; 95% CI 1.088-1.562; p = 0.004). CONCLUSIONS: FMD can be used as a non-invasive marker to predict the development of GH/PE.