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1.
Article | IMSEAR | ID: sea-204606

ABSTRACT

Sickle cell disease (SCD) is a term used for a group of genetic disorders characterized by production of Hb 'S'. Sickle cell hemoglobin opathy occurs due to mutation of beta-globin gene situated on short arm of chromosome 11, where adenine is replaced by thymine in base of DNA coding for the amino acid in the sixth position in beta-globin chain. This leads to an amino acid change in beta chain of Hb molecule, from glutamic acid to valine. The result is profound change in the molecular stability and solubility of Hb 'S'. Authors are reporting a 8-year-old girl who is a known case of sickle cell disease presented with complaints of intermittent pain abdomen and vomiting since 30 days. Investigations revealed elevated pancreatic enzymes with radiological evidence of pancreatitis. Packed red blood cell transfusion and appropriate supportive therapy given and child recovered well.

2.
Article | IMSEAR | ID: sea-203887

ABSTRACT

Background: Neonatal seizures may arise as a result of diverse etiologies and can have varied presentations. Biochemical abnormalities are commonly observed in neonates which can be either primary or secondary. Early recognition and treatment of biochemical disturbances is essential for optimal management and satisfactory long-term outcome.Methods: A total of 100 neonates presenting with seizures admitted to NICU of JJM Medical College, Davanagere, from November 2015 to April 2017 were enrolled in the study. Detailed antenatal, natal, postnatal history along with detailed examination was done along with baseline characteristics of convulsing were recorded at admission along with relevant biochemical investigations before instituting any specific treatment.Results: In the present study, out of 100 neonates studied, 64 were full term of which 49(76.5%) were AGA and 15(23.5%) were SGA, whereas 36 cases were preterm. Most neonatal seizures occurred in first 3 days of life, i.e. 59% of which majority occurred on first day of life (34%). Birth asphyxia and septicemia are common cause of neonatal seizures in present study (38 cases each), followed by pure metabolic disturbances 19%. In pure metabolic seizures, hypoglycemia (47.8%) is most common more in preterm babies (55%) followed by hypocalcemia.Conclusions: Biochemical abnormalities are common in neonatal seizures and often go unrecognized and may significantly contribute to seizure activity. Hence, a biochemical work up is necessary for all cases of neonatal seizures.

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