Serum Vitamin B12 and Folate Levels in Mothers and their Newborns: An Observational Study

ABSTRACT Aim To estimate the average serum values of vitamin B12 and folate in women with a term pregnancy and the cord blood of their newborns. To find if any correlation exists between the levels of serum B12 and folate in the mother and that of the neonate. Materials and methods A prospective observational study of serum B12 and folate levels and the respective cord blood concentrations of 51 term, nonanemic, pregnant women and in the cord blood of their newborns at delivery. Results Fifteen women were B12 deficient (29.4%) with the mean being 189.25 ± 94.2 ng/mL and 14 neonates were B12 deficient (27.45%) with their mean being 321.86 ± 143.68 ng/mL. One woman was folate deficient (1.96%) with the mean being 13.13 ± 5.15 ng/mL and one neonate was folate deficient (1.96%) with the mean being 15.68 ± 4.61 ng/mL. There was a significant correlation between maternal and neonatal B12 levels with a Pearson's coefficient of 0.74 (p-value of &lt; 0.01) and a significant correlation between maternal and neonatal folate levels with a Pearson's coefficient of 0.44 (p-value of &lt; 0.01). Conclusion There is a high incidence of maternal B12 deficiency in the Indian community, which has a positive correlation with neonatal levels. Treatment of B12 and folate deficiency should be a part of routine antenatal treatment, and neonates should be followed up and treated if found to be B12 or folate deficient. Clinical significance In India, where large numbers of women are anemic, deficiency of vitamin B12 and folate is overlooked when treatment of anemia is undertaken in most hospitals. In addition, women with undetected and subclinical deficiency may transmit it to their newborns with a cycle that is self-perpetuating unless broken with adequate intake or supplementation. How to cite this article Krishnaswamy PH, Prabhu S, Pandith NA, Shetty A. Serum Vitamin B12 and Folate Levels in Mothers and their Newborns: An Observational Study. J Postgrad Med Edu Res 2016;50(4):190-193. </jats:sec

Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

AbstractThere are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister) chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes

Frequency and pattern of cytogenetic alterations in primary amenorrhea cases of Kashmir, North India

AbstractBackgroundPrimary amenorrhea (PA) is proposed to have multiple etiological factors that include genetic factors, intrauterine malformations, endocrine dysfunction and environmental factors, as revealed by previous studies pertaining to amenorrhea. However, among the various proposed etiologies, genetic factors appear to be highly associated with PA as approximately 40% of PA cases have been found to have genetic causes.Aim of the studyThe present study was proposed to establish the frequency and pattern of chromosomal abnormalities in PA cases of Kashmir.Subjects and methodsA total of 108 females within the age group of 14–33years and having a history of amenorrhea were included in the study. Peripheral blood lymphocyte cultures were set for each subject according to standard protocol and chromosomal analysis was carried out on well spread metaphases by the help of Cytovision software Version 3.9.ResultsThe results of the present study reveal that the incidence of chromosomal abnormalities in PA cases of this region is almost similar with those of many reports around the world. However, we report two unique chromosomal alterations viz., 46,XX, dup2q(13) and 46,XX, t(2,5)(p11.2;q34) that have not been found elsewhere in the literature.ConclusionThe results of the present study indicate that chromosomal analysis of females with PA, after the exclusion of non-genetic causes, should be essentially considered for the precise diagnosis and the development of more successful treatment. The study being the first of its kind in this part of the world forms the basis for further studies of the PA cases of this region. The precise molecular characterization of the unique breakpoint regions reported in our study can possibly help in the identification of new genes involved in primary amenorrhea