Regulating stem cell research & therapy.
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Biomedical Research↗
Biomedical subjects
S S Agarwal
Publications and source records attributed to S S Agarwal.
Microsatellite variation at 24 STR loci in three endogamous groups of Uttar Pradesh, India.
We have studied variation at 24 microsatellite markers among 50 individuals from each of three endogamous groups, Bhargavas, Chaturvedis, and non-Bhargava, non-Chaturvedi Brahmins of Uttar Pradesh, India. The number of alleles at the loci tested varied from 4 to 11, with an average of 6 at each locus. Heterozygosity was found to be quite high at all loci in the three subpopulations. It varied between 0.44 to 0.84 among Bhargavas (average 0.6510), 0.44 to 0.80 among Chaturvedis (average 0.6633 +/-), and 0.42 to 0.85 among Brahmins (average 6.694 +/-). Hardy-Weinberg equilibrium analysis revealed that these populations are under genetic equilibrium at almost all the loci tested. Comparisons of allele frequency between Bhargavas and Chaturvedis showed that they differed significantly at 14 short tandem repeat (STR) markers (p < 0.001), while Chaturvedis and Brahmins differed at 6 (p < 0.05) and Brahmins and Bhargavas at 8 (p < 0.05). Average F(IS) and F(ST) for the 24 STR markers was -0.02 and 0.013, respectively. We used both un-weighted pair group with arithmetic mean and principal components analysis to evaluate genetic distances among the three groups. Our results revealed that although there were differences at particular allele frequencies between Bhargavas vs. Brahmins, Bhargavas vs. Chaturvedis, and Brahmins vs. Chaturvedis, these differences were not statistically significant when combined over all 24 STR markers between Chaturvedis vs. Brahmins and Bhargavas vs. Brahmins. The genetic distance analysis revealed that Bhargavas are slightly apart from the other two populations.
Chi-Square Distribution↗
Antilymphoproliferative activity of ethanolic extract of Boerhaavia diffusa roots.
Extracts of plants have been widely evaluated for possible antiproliferative and anticarcinogenic properties. The antiproliferative activity of ethanolic extract of Boerhaavia diffusa, a plant used in traditional medicine, was evaluated in several cells. It inhibited T cell mitogen phytohemagglutinin and concanavalin A-stimulated proliferation of human peripheral blood mononuclear cells (PBMC). It also inhibited purified protein derivative antigen-stimulated PBMC proliferation and human mixed lymphocyte culture. In addition, B. diffusa extract inhibited the growth of several cell lines of mouse and human origin, such as mouse macrophage cells (RAW 264.7), human macrophage cells (U937), human monocytic cells (THP-1), mouse fibroblast cells (L929), human embryonic kidney cells (HEK293), mouse liver cells (BNLCL.2), African green monkey kidney cells (COS-1), mouse lymphoma cells (EL-4), human erythroleukemic cells (K562), and human T cells (Jurkat). The present study has demonstrated the antiproliferative potential of ethanolic extract of B. diffusa in vitro.
Animals↗
Mental retardation, ptosis and polydactyly: a new autosomal recessive syndrome?
Three affected sibs in a consanguineous family with short stature, mental retardation, downslanting palpebral fissures, ptosis and polydactyly are described. There was no hypogonadism or pigmentary retinopathy. They were thin in childhood and while two of the postpubertal sibs have a stocky build none is obese. We propose that this could be a previously unreported autosomal recessive syndrome.
Abnormalities, Multiple↗
Clinical profile of hereditary spherocytosis in North India.
AIMS OF THE STUDY: Hereditary spherocytosis (HS) is a familial hemolytic disorder manifesting as anaemia, recurrent jaundice, splenomegaly with marked heterogeneity in clinical presentation. The objective was to study the clinical spectrum of the disorder in India. METHODOLOGY: We studied 50 HS patients and followed them for up to six years (Age range 2-47 years). RESULTS: The presenting features were jaundice 35 out of 50, anaemia 30 out of 50 (requiring blood transfusion in 25). Splenomegaly was found in all patients. Increased osmotic fragility was found in all patients whereas spherocytes were found in only 19 out of 42 patients. Reduced red cell survival was noted in 9/12 patients studied with 51Cr labeled RBCs. There was a definite improvement in the hemoglobin values in those who underwent splenectomy. Thirteen cases had similarly affected family member/s. Fifteen of the cases had family history consistent with autosomal dominant (AD) inheritance (eight families) while in six cases (5 families), inheritance was likely to be autosomal recessive (AR). There was intrafamilial variability in the age of presentation in the AD families. CONCLUSIONS: Our results suggest that both autosomal dominant and recessive patterns of HS are seen in India and the clinical profile of the Indian HS patients is similar to that described in other populations. HS presenting in childhood is also not uncommon. However, the predominant underlying protein defect in Indian patients needs to be characterized.
Adolescent↗
Immunomodulation by opioid peptidomimetic compound.
OBJECTIVE: As a follow-up to our earlier studies on immunomodulation with opioid peptides, we synthesized and evaluated immunomodulatory activity of four peptidomimetic compounds, i.e. Tyr-NH-C(Me)(2)-CH(2)-O-Phe-NH(2 )(1), Tyr-NH-C(6)H(5)-(o)-CH(2)-CH(2)-O-Phe-NH(2) (2), Tyr-NH-CH(2)-CH(2)-O-Phe-NH(2) (3) and Tyr-NH-CH(D-Et)-CH(2)-O-Phe-NH(2) (4). METHODS: These compounds were synthesized in solution phase and evaluated for their immunomodulatory properties in vitro by mixed lymphocyte reaction (MLR), proliferation of opioid receptor-expressing cells, production of tumor necrosis factor-alpha (TNF-alpha) and nitric oxide. RESULTS: This study shows the immunosuppressive potential of synthetic peptidomimetic compound 3. This compound inhibited two-way MLR and suppressed the proliferation of the mu-opioid receptor expressing human embryonic kidney cells HEK 293 in vitro. Inhibition of MLR by compound 3 was reversed by naloxone (opioid receptor antagonist) and beta-funaltrexamine hydrochloride (mu-opioid receptor antagonist). The immunosuppressive effect of compound 3 was further demonstrated by inhibition of TNF-alpha and nitric oxide production in lipopolysaccharide-stimulated human PBMCs and mouse macrophage cells RAW 264.7, respectively. CONCLUSION: These observations suggest that compound 3 inhibits MLR through mu-opioid receptor present on cells.
Animals↗
Sirenomelia sequence associated with craniorachischisis totalis, limb reduction and primitive heart.
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Abnormalities, Multiple↗
DNA short tandem repeat profiling of three North Indian populations.
POPULATION: Fifty healthy unrelated individuals were randomly chosen from each of the three populations viz., Bhargavas, Chaturvedies, and Brahmins. Three generation pedigree charts were prepared to ensure sirname endogamy in Bhargavas Chaturvedies and group endogamy in Brahmins subjects were chosen from several parts of Uttar Pradesh, a northern state of the Indian republic.
Alleles↗
Role of cytokines in experimental and clinical uveitis.
Uveitis is a major cause of visual impairment. Experimental autoimmune uveitis mimics the clinical conditions of posterior uveitis in many ways. T-cells (particularly CD4+ helper-T-cells) have been shown to play an important role in pathogenesis of experimental and clinical uveitis. Based on the pattern of cytokine they secrete, CD4+ helper cells have been divided into Th1 and Th2 subsets. Various Th1 and Th2 cytokines appear to be involved in the pathogenesis and/or recovery from uveitis. This article discusses in detail the uveitopathogenic and therapeutic potential of Th1 and Th2 cytokines in experimental and clinical uveitis.
Animals↗
Rare beta-thalassemia mutations in Asian Indians.
Among 365 carriers of beta-thalassemia, 13 subjects remained uncharacterized after ARMS analysis. Among these 13 individuals, 8 mutations were identified by direct sequencing of the PCR-amplified product, which have not been described in Asian Indians earlier. These included (1) T-C substitution at IVS II position 591, a new beta-thalassemia mutation which probably creates an alternative donor splice site in antisense strand; (2) the mutations CoD4 (T-A), CoD5 (C-T), CoD6 (G-T) at cis location; (3) CoD13 (C-T), CoD26 (G-A), CoD 27/28(-C) at cis location; (4) CoD 8 (A-G); (5) CoD30 (G-C); (6) CoD5 (-CT); (7) IVSI-1 (G-A); and (8) FS47/48 (+ATCT). The latter four have been described in other populations but are identified in Asian Indians for the first time. This completes the characterization of beta-thalassemia mutations in 365 carriers of Asian Indian origin, enabling us to provide a comprehensive prenatal diagnosis of beta-thalassemia in our population.
Asia↗
Linear catch-up growth.
Chronic diseases and malnutrition cause growth failure in childhood and adolescence. Correction of the cause of a growth deficiency is usually followed by catch-up growth. Capacity to catch-up is not only variable in different phases of growth, it is also different in different diseases and among different individuals suffering from the same disease. Catch-up growth is of three types. In type 1 catch-up growth, height deficit is swiftly eliminated after the growth restriction ceases. In type 2, after growth restriction ceases growth continues for longer than usual and growth arrest is compensated. Type 3 is a mixture of type 1 and type 2. Repeated episodes of growth inhibitory conditions result in lower catch-up rates in the subsequent periods. Although the exact mechanism regulating catch-up growth still remains a mystery, monitoring catch-up growth remains an important measure of the efficacy of the therapy and therefore of immense clinical importance.
Adolescent↗
Identification of a novel frameshift beta-thalassemia mutation in an Asian Indian.
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Adult↗
Association of human leucocyte-DR and DQ antigens in coeliac disease: a family study.
BACKGROUND AND AIMS: No family studies regarding the association of coeliac disease with the human leucocyte antigen (HLA)-DQ locus are available. Moreover, no HLA studies have been carried out in coeliac disease patients from India. The aim of this study was to study the HLA class II (DR and DQ) antigens in children with coeliac disease and in their first-degree relatives. METHODS: Fifteen children with coeliac disease and their first-degree relatives (birth parents of all the coeliac disease patients and fifteen siblings) were studied. A group of 123 healthy unrelated and ethnically matched subjects were used as controls. The HLA-DR and -DQ typing was carried out by a complement-dependent microlymphocytotoxicity assay. The transmission disequilibrium test was used for analysis of results. RESULTS: There was no association of coeliac disease with DR phenotypes. Ninety-three per cent of patients (14/15) carried the DQ2 allele. DQ2 was transmitted in 15 of 19 informative cases (transmission probability of 79%, chi2 6.368 with 1 df, nominal P=0.012 and P value corrected for multiple test=0.035). The haplotype relative risk associated with DQ2 was 5.71 (95% confidence interval 1.71-16.28). CONCLUSION: Coeliac disease in Indian children is predominantly associated with HLA-DQ2.
Adolescent↗
Modulation of autoimmune diseases by nitric oxide.
Nitric oxide (NO) is an intercellular messenger that performs a number of functions, including neurotransmission, vasodilatation, inhibition of platelet aggregation, and modulation of leukocyte adhesion. NO has recently been shown to act as a potent cytotoxic effector molecule as well as to play an important role in the pathogenesis of organ-specific autoimmunity. NO may also modulate the immune response by interfering with Th1/Th2 balance in autoimmune diseases. This review will discuss the role of NO and nitric oxide synthase (NOS) in pathophysiologic and therapeutic implications in various autoimmune diseases with particular reference to T helper-1 (Th1) and T helper-2 (Th2) cytokines.
Adjuvants, Immunologic↗
Early onset of endocrine abnormalities in beta-thalassemia major in a developing country.
Endocrine complications in patients with thalassemia major in developing countries may be frequent due to suboptimal iron chelation. Data from developing countries are scant. We prospectively evaluated growth, growth hormone (GH), insulin-like growth factor I, thyroid hormone, cortisol and glucose tolerance in 84 patients over one year. Height standard deviation (SD) score of patients > 8 years (-2.2 +/- 1.5 against National Center for Health Statistics references) was significantly lower than that of normal controls (-1.0 +/- 0.7, p < 0.001). 51% of patients had GH deficiency, 13% hypocortisolism and 7.9% diabetes/impaired glucose tolerance. Ten of 11 adolescents/young adults had hypogonadism. Of 54 preadolescent children who underwent dynamic testing, 18 (33%) had at least one endocrine deficiency other than short stature. We conclude that hypogonadism and hypocortisolism form important causes for morbidity in our thalassemic children. Thalassemic patients in developing countries may be at risk for endocrine deficiencies at younger ages.
Adolescent↗
Geographic and ethnic distribution of beta-thalassemia mutations in Uttar Pradesh, India.
We have studied the geographic and ethnic distribution of mutations in 376 subjects who were carriers of beta-thalassemia, and identified the mutations in 365 chromosomes. The majority of the beta-thalassemia carriers were of Uttar Pradesh (India) origin. Their pattern of mutations differed from the other states of India and from those families who had migrated from Pakistan. The frequency of the IVS-I-5 (G-->C) and 619 bp deletion mutations were 64.3 and 2.5%, respectively, among families originating from Uttar Pradesh, compared to a prevalence of 37.5 and 27.5%, respectively in the population of Pakistani immigrants. Of the 10 common Asian Indian mutations, only eight were observed in subjects studied from different parts of India. By use of the amplification refractory mutation system along with DNA sequencing techniques, the mutations were successfully identified in 97.1% of subjects, while 11 cases (2.9%) still remain to be characterized by single strand conformation polymorphism and sequencing analyses. The application of this knowledge has facilitated the successful implementation of the program of genetic counseling and prenatal diagnosis of beta-thalassemia, thus helping to avoid the birth of an affected child in India.
DNA Mutational Analysis↗
Pachygyria/hypogenitalism: A monogenic syndrome.
We describe the clinical and neuroimaging findings of two severely retarded boys born to consanguineous parents. This appears to be a monogenic condition of abnormal neuronal migration associated with hypogenitalism. Reports of other monogenic syndromes of neuronal migration abnormalities are reviewed.
Cell Movement↗
The paradigm of Th1 and Th2 cytokines: its relevance to autoimmunity and allergy.
In the past few years, considerable evidence has accumulated to suggest the existence of functionally polarized responses by the CD4+ T helper (Th)--and the CD8+ T cytotoxic (Tc)-cell subsets that depend on the cytokines they produce. The Th1 and Th2 cellular immune response provide a useful model for explaining not only the different types of protection, but also the pathogenic mechanisms of several immunopathological disorders. The factors responsible for the polarization of specific immune response into a predominant Th1 or Th2 profile have been extensively investigated in mice and humans. Evidence has accumulated from animal models to suggest that Th1-type lymphokines are involved in the genesis of organ-specific autoimmune diseases, such as experimental autoimmune uveitis, experimental allergic encephalomyelitis, or insulin-dependent diabetes mellitus. Accordingly, data so far available in human diseases favor a prevalent Th1 lymphokine profile in target organs of patients with organ-specific autoimmunity. By contrast, Th2-cell predominance was found in the skin of patients with chronic graft-versus host disease, progressive systemic sclerosis, systemic lupus erythematosus, and allergic diseases. The Th1/Th2 concept suggests that modulation of relative contribution of Th1- or Th2-type cytokines regulate the balance between protection and immunopathology, as well as the development and/or the severity of some immunologic disorders. In this review, we have discussed the paradigm of Th1 and Th2 cytokines in relation to autoimmunity and allergy.
Animals↗