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A Jyothy

Publications and source records attributed to A Jyothy.

11 recordsLinked to original sources
PubMed2003

Plasma homocysteine levels correlated to interactions between folate status and methylene tetrahydrofolate reductase gene mutation in women with unexplained recurrent pregnancy loss.

Hyperhomocysteinaemia, a risk factor for recurrent pregnancy loss, is related either to a hereditary defect within the methionine-homocysteine pathway or it might be acquired as a result of deficiencies of vitamin B(12) and folate (B(9)). Because hyperhomocysteinaemia seems to be determined by both genetic and environmental factors, the current study was undertaken to find out the interactions between folate status and MTHFR mutation on the homocysteine concentration in 24 women experiencing unexplained three or more consecutive recurrent pregnancy losses. The median fasting total plasma homocysteine concentration in the study group was 10.23 micro mol/l compared to 8.95 micro mol/l; P = 0.096 in the controls. Elevated homocysteine levels > 18 micro mol/l, which was considered to be a risk factor for recurrent early pregnancy loss, was found in four women in the study group and none among the controls. Lower red cell folate levels (normal range >/= 160 ng/ml) were observed in nine (37.5%) women among the study group, compared to five (20.84%) women among controls. The mean +/- SD red cell folate levels in the study group was found to be 154.37 +/- 37.07, while in the controls it was 159.0 +/- 28.97. In the present study six women in the study group and two among controls were found to be carriers for the C677T MTHFR mutation. None were homozygous for the mutant (TT) allele. The highest values of homocysteine concentration were found in women experiencing recurrent pregnancy loss with both the CT genotype and folate deficiency. Identification of hyperhomocysteinaemia in women with recurrent pregnancy loss may help in therapeutic normalisation and might permit a normal birth.

Abortion, Habitual↗
PubMed2002

Role of red cell selenium in recurrent pregnancy loss.

Selenium is an essential trace mineral required for normal human health and reproduction. In recent years selenium deficiency in humans has been implicated as a risk factor for recurrent pregnancy loss. So far the selenium status in recurrent pregnancy loss (RPL) has been evaluated only in plasma and serum samples showing discrepancies of selenium deficiency as a cause for RPL. The present pilot study from India has evaluated selenium status in red cells (as they are the better indicators of selenium levels) in 20 women with three or more unexplained recurrent pregnancy losses compared to similar number of controls. The mean+/-SD red cell selenium levels in the study group was found to be 119.55+/-32.94 ng/ml (range 55-170 ng/ml), which was significantly lower compared to the control group with a mean+/-SD of 150.85+/-37.63 ng/ml (range 87-225 ng/ml). The difference was statistically significant at the 1% level ( P <0.01). Since selenium supplementation resulted in successful pregnancy outcome in veterinary practice, we conclude that large randomised studies are needed to assess the contribution of selenium in the aetiology of RPL and the potential benefits of its supplementation.

Abortion, Habitual↗
PubMed2002

Translocation Down syndrome.

Cytogenetic investigations carried on 1021 cases of Down syndrome revealed translocation in 46 cases. The most frequent was of t(14;21) and t(21;21) types. Most of the translocation DS cases (n = 31) were born to younger mother's (< 25 years), when compared to pure trisomy 21 DS cases. Parental karyotypes, family history and parental ages has helped us greatly in offering genetic counseling, prenatal diagnosis and estimating the risk for the next conception.

Chromosomes, Human, Pair 21↗
PubMed2002

Translocation Down syndrome.

Cytogenetic investigations carried out on 1021 cases of Down syndrome revealed translocation in 46 cases. The most frequent was of t(14;21) and t(21;21) types. Most of the translocation DS cases (n = 31) were born to younger mothers (< 25 years), when compared to pure trisomy 21 DS cases. Parental karyotypes, family history and parental ages has helped us greatly in offering genetic counseling, prenatal diagnosis and estimating the risk for the next conception.

Adolescent↗
PubMed2001

Parental age and the origin of extra chromosome 21 in Down syndrome.

We present a report of the parental ages (n = 865) and parental origin of meiotic nondisjunction (n = 236) that are likely to show a predisposition in the etiology of Down syndrome (DS). Chromosomal analysis, performed over a 20-year period, on 1,001 Down syndrome subjects, revealed pure trisomy 21 karyotype in 880 subjects (87.92%), mosaic trisomy karyotype in 77 (7.69%), and translocation karyotype in 44 (4.39%). The mean maternal age was found to be 30.34 years, and mean paternal age was 31.04 years. Nondisjunctional error was 79.24% maternal and 20.76% paternal. The findings of the study revealed the significant contribution of advanced parental age and increased maternal meiotic nondisjunctional error to the origin of trisomy 21 Down syndrome.

Adult↗
PubMed2000

Cytogenetic studies of 1001 Down syndrome cases from Andhra Pradesh, India.

Cytogenetic data obtained from investigating 1001 patients of Down syndrome (DS) and their parents over a period of 20 years (January 1979-January 1999) are presented. The frequency of pure trisomy, mosaicism and translocation was 87.92, 7.69 and 4.39 per cent respectively. The origin of the extra chromosome 21 due to meiotic non-disjunction was 79.24 per cent maternal and 20.76 per cent paternal. A high frequency of acrocentric chromosome associations was also observed in mothers of children of Down syndrome, this might have predisposed to an enhanced risk for non-disjunction. Birth order of DS showed a higher number of first and second borns. Reproductive performances of the parents indicated a high rate of abortions, compared to controls. Cytogenetic investigations carried out over these years greatly helped in the management of these children and for counseling the affected families.

Adolescent↗
PubMed1999

Serum and erythrocyte magnesium levels in hypertensives and their first degree relatives.

Essential hypertension is an arbitrarily defined disorder to which both genetic and environmental factors contribute. Magnesium and its interactions with other cations may play an important role in the pathogenesis of essential hypertension. Various studies have been carried out on the levels of serum and erythrocyte magnesium in hypertensives and the results are controversial and there is no systematic study in Indian population. In the present study serum and erythrocyte magnesium levels in 86 hypertensives and their 77 first degree relatives as well as in sex and age matched controls were studied. Serum and erythrocyte magnesium levels showed a significant decrease both in the hypertensives and their first degree relatives (p < 0.01). The significantly decreased levels of magnesium in the first degree relatives suggest genetic basis of essential hypertension and may be used as marker to identify those at risk.

Biomarkers↗
PubMed1982

Aminoacidopathies in Andhra Pradesh; report of a screening programme.

A systematic and selective screening programme to detect disorders of amino acid metabolism was undertaken to gain insight into the incidence and prevalence of such disorders in the southern part of India. This region was selected due to the high incidence of consanguineous marriages. No earlier data were available. We based our study on mentally retarded children. We have attempted dietary therapy in two patients with phenylketonuria; the biochemical response in both cases was satisfactory. The highlight of this survey was the detection of a new metabolic defect, threoninaemia.

Adolescent↗
PubMedDate not supplied

Beta2-glycoprotein I dependent anticardiolipin antibodies and lupus anticoagulant in patients with recurrent pregnancy loss.

AIM: The present study was aimed to define the incidence of antiphospholipid antibodies of different types lupus anticoagulant (LAC), venereal disease research laboratory test (VDRL) and Beta2-glycoprotein I dependent anticardiolipin antibodies Beta2 I aCL) in our cohort of population experiencing recurrent pregnancy loss (RPL) from Andhra Pradesh, South India. SETTING AND DESIGN: A referral case-control study at a tertiary centre over a period of 5 years. PARTICIPANTS: 150 couples experiencing 3 or more recurrent pregnancy losses with similar number of matched controls. MATERIAL AND METHODS: LAC activity was measured by the activated partial thromboplastin time (aPTT) according to the method of Proctor and Rapaport with relevant modifications. VDRL analysis was performed by the kit method supplied by Ranbaxy Diagnostics Limited and Beta2 Glycoprotein I dependent anticardiolipin antibodies were estimated by ELISA kit (ORGen Tech, GmbH, Germany) with human Beta2 Glycoprotein I as co-factor. STATISTICAL ANALYSIS: Statistical analysis was performed using Student's t test. RESULTS: LAC activity was found positive in 11 women (10.28%). The mean +/- SE Beta2 I aCL concentration in the study group was 14.53 (micro/ml) +/- 1.79 (range 0 to 90.4 micro/ml) which was higher than the control group with a mean +/- SE of 7.26 (micro/ml) +/- 0.40 (range 0 to 18 u/ml). The binding of the antibodies to the antigen was observed in 40.24% (n=33) of the cases compared to 6.09% (n=5) in controls. VDRL test was positive in 7(2.34%) individuals (3 couples and 1 male partner) and none among controls. CONCLUSIONS: The present study indicates the importance of antiphospholipid antibodies in women experiencing RPL and suggests the usefulness of screening for these antibodies as a mandatory routine for instituting efficient therapeutic regimens for a successful outcome of pregnancy.

Abortion, Habitual↗