Tyrosinase is a glycoprotein responsible for the synthesis of melanin in melanocytes. A large number of mutations have been identified in tyrosinase, with many leading to its misfolding, endoplasmic reticulum (ER) retention, and degradation. Here we describe the folding and maturation of human tyrosinase (TYR) using an in vitro translation system coupled… (More)
Selected children with congenital heart defects undergoing palliative closed heart procedures require a cardiopulmonary bypass (CPB) run only for the purpose of creating an inter-atrial communication. We report a simple technique of atrial septostomy using thoracoscopy scissors under transesophageal echocardiography guidance without the need for CPB.
BACKGROUND Absence of right pulmonary artery (RPA) is a rare congenital abnormality with variable presentation. The diagnosis is often missed in infants OBJECTIVE The aim of this study was to describe infantile presentation of isolated absence of RPA along with a brief review of the literature. METHODS The details of five patients diagnosed with… (More)
BACKGROUND Management of native uncomplicated coarctation in neonates remains controversial with current evidence favoring surgery. The logistics of organizing surgical repair at short notice in sick infants with critical coarctation can be challenging. METHODS AND RESULTS We reviewed data of 10 infants (mean age of 2.9 +/-1.6 weeks) who underwent… (More)
OBJECTIVES To describe the case selection, technique and immediate and short-term results of balloon pulmonary valvotomy (BPV) in young infants with tetralogy of Fallot (TOF). BACKGROUND Symptomatic young infants with TOF can either undergo corrective surgery or Blalock-Taussig (BT) shunt. Corrective surgery in early infancy is associated with significant… (More)
We present illustrative images of submitral aneurysm in a young girl. The diagnosis was established on echocardiography and the extent of the problem was defined through multi-detector computerized tomography.