False positive retroaortic left circumflex coronary artery in a patient with atrial septal defect

Retroaortic course of coronary artery is a relative contraindication for device closure of an atrial septal defect. In this brief report, we demonstrate, for the first time, inferior aortic recess mimicking retroaortic left circumflex coronary artery in a patient with atrial septal defect. This distinction is important to avoid spurious diagnosis of anomalous coronary artery denying patient a chance of nonsurgical closure of atrial septal defect.     

Distinctive Mutation Spectrum of the HBB Gene in an Urban Eastern Indian Population

Hemoglobinopathies such as β-thalassemia (β-thal) and sickle cell anemia (or Hb S [β6(A3)Glu→Val]) impose a major health burden in the Indian population. To determine the frequencies of the HBB gene mutations in eastern Indian populations and to compare with the available data, a comprehensive molecular analysis of the HBB gene was done in the normal Odisha State population. Using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), amplification refractory mutation system (ARMS) and DNA sequencing techniques, β-thal and sickle cell anemia mutations were characterized in 267 healthy individuals. Entire HBB gene sequencing showed 63 different mutations including 11 new ones. The predominant mutation HBB: c.9T?>?C was observed at a high frequency (19.57%) in the normal population. In the urban population of Odisha State, India, carrier frequency of hemoglobinopathies was found to be 18.48%, and for β-thal, the carrier rate was 14.13%, which is very high indeed. In the absence of a complete cure by any expensive treatment and drug administration, this information would be helpful for planning a population screening program and establishing prenatal diagnosis of β-thal in order to reduce the burden of such a genetic disease.     

Multiarticular Tophaceous Gout with Severe Joint Destruction: A Pictorial Overview with a Twist

Tophi are the visible dermatological signs of gout. A case of tophaceous gout in a middle-aged man with no other metabolic derangement is being presented with multiple tophi on the hands and feet overlying joints as well as on the fingers and toes. We thought it to be of educational value to demonstrate needle-like crystals of urate by polarizing microscopy. X-rays of hands and feet showed dramatic destructive changes. The patient presented with mottled hypopigmentation on anterior and posterior knees and dorsa of hands and feet where he applied hot “aankda” leaves and covered them with bandage resulting in irritant dermatitis with postinflammatory hypopigmentation. This proved to be a red herring in this case.