Browsing by Author "Nair, Bindu T"
Now showing 1 - 2 of 2
Results Per Page
Sort Options
Publication Glycogen Storage Disease 1b: Diagnosis and Workup of a Novel Mutation(Nepal Paediatric Society (JNPS), 2016) Sanjeev, Rama Krishna; Shetty, Swathi; Harith, Arun; Nair, Bindu T; Surendran, SajithAbstract: Glycogen Storage diseases (Glycogenoses) are a diverse group of disorders, numbering more than 12, resulting from deficiencies of various enzymes & transport proteins in the pathways of glycogen metabolism. GSD 1 is caused by absence or deficiency of glucose-6-phosphatase activity in the liver, kidney or intestinal mucosa. In GSD 1(b), the enzyme which transports Glucose-6-Phosphate across the microsomal membrane is defective, thereby resulting in accumulation of Glycogen. The clinical features of 1a & 1b are similar with fasting hypoglycaemia, hepatomegaly, growth retardation and metabolic abnormalities except for the presence of neutropenia with recurrent gingivitis in GSD 1b. A genetic diagnosis solves this conundrum with the added benefit of antenatal diagnosis of future pregnancies & identification of carrier state in patients. We report the work up of an infant with suspected GSD where a novel mutation with heterozygous carrier state in the parents was diagnosed by genetic testing.Publication Study of Correlation of Neonatal Outcomes with Gross Abnormalities of Placenta and Umbilical Cord(Nepal Paediatric Society (JNPS), 2017) Nair, Bindu T; Raju, UmaAbstract: Introduction: Perinatal outcome of new-borns is greatly influenced by abnormalities of placenta and umbilical cord. In most of the deliveries, whether home or institutional, the placenta and umbilical cords are discarded without examination. Due to paucity of information on abnormalities of placenta and cord, there is hardly any correlation with foetal outcomes. The aim was to study the correlation between the foetal outcome and the different types of abnormalities of placenta and umbilical cord. Materials and Methods: A prospective, cross-sectional, descriptive, randomised study was conducted from January 2016 to December 2016 in a tertiary care hospital in North India. The study was carried out on 1000 term singleton newborns. The placenta and umbilical cords were obtained from both normal and caesarean section deliveries. A proforma was used to gather data from the patients and new-borns. Statistical analysis was done using Statistical Package for the Social Sciences (SPSS) version 20 (SPSS Inc, Chicago, IL, IBM version) along with Microsoft Excel (2010 version). Results: One thousand placentae and umbilical cords were examined of which high placental weight/birth weight ratio, gross anomalies of placenta (infarctions, calcifications and retro placental haematoma), marginal (battledore and velamentous) umbilical cord insertions, long umbilical cords and single umbilical artery were associated with negative foetal outcomes. Conclusions: There was a high incidence of adverse foetal outcome with placental and umbilical cord abnormalities. Education of our health personnel dealing with deliveries on the importance of proper examination of the placenta and umbilical cords should be emphasised and instituted upon.