Category: Research Article
Periconceptional Maternal Folic Acid Supplementation Mediate DNA Methylation Affecting Off spring Health
Folate, VitB12, choline, betaine and methionine both participate in the one-carbon metabolism (FOCM). Under the action of FOCM cycle enzymes, above-mentioned micronutrients convert to essential…
Aspirin Responsive Sticky Platelet Mediated Thrombophilia Caused by Gain of Function Mutations in the Thrombopoietin, JAK2 and MPL Genes in Hereditary and Acquired Essential Thrombocythemia
In the 1990s it was known that thrombopoietin (TPO) stimulates megakaryocyte production both in vitro and in vivo [1-3]. Size, number, and mean geometric ploidy…
Genetic Testing and Neurodevelopmental Follow Up in Patients with Conotruncal Abnormalities
Congenital heart disease (CHD) is the most common birth defect and in most cases idiopathic. Genetic causes account for up to 35% of patients with…
Development of a Questionnaire Method of Screening for Citrin Deficiency in Schoolchildren
Citrin deficiency is one of the most frequent diseases among congenital metabolic disorders in Japan. Based on the time of its onset, citrin deficiency is…
Successful Pregnancy Outcome and Surgical Approach in Women with Repaired Bladder Exstrophy or Cloacal Exstrophy – Experience from a quaternary paediatric and adolescent gynaecology centre in Australia
Bladder exstrophy is a rare congenital anomaly, occurring in 2-3.3/100,000 births, with a male to female ratio of 3-4 to 1[1]. Cloacal exstrophy is even…
Neonatal Endotracheal Tubes and Prevention of Bronchial Intubation
Right main stem bronchial intubation (RMSBI) causes morbidity during neonatal assisted ventilation. Over-distention of the right middle and/or lower lobes of the lung and under-ventilation…
Elevated Expression of Brain Indoleamine 2,3-Dioxygenase is Associated with Early Mouse Development
The essential amino acid L-tryptophan (TRP) plays a critical role as a constituent of human proteins and serves as the original substrate for two biosynthetic…
