Thalassaemia is one of the most common inherited genetic disorders prevalent worldwide. In India, certain communities were identified with high risk of beta thalassaemia. There are more than 200 different types of beta thalassaemia mutations worldwide. The most common beta thalassaemia mutation, IVS 1-5 (G→C) is being analyzed here to get information whether this common mutation is prevailing a...

The sequence requirements for splicing of the Tetrahymena pre-rRNA have been examined by altering the rRNA gene to produce versions that contain insertions and deletions within the intervening sequence (IVS). The altered genes were transcribed and the RNA tested for self-splicing in vitro. A number of insertions (8-54 nucleotides) at three locations had no effect on self-splicing activity. Two ...

sS56 in patients with late-onset Pompe disease. J Neurol.2010;257(10):1730-3.[3] Winkel LP, Hagemans ML, van Doorn PA, Loonen MC,Hop WJ, Reuser AJ, van der Ploeg AT. The natural course ofnon-classic Pompe’s disease; a review of 225 publishedcases. J Neurol. 2005;252(8):875-84.[4] Peric S, Fumic K, Bilic K, Reuser A, Rakocevic StojanovicV. Rupture of the middle ce...

A 60-year-old gentleman came to the cardiac emergency room of our hospital complaining of a 3-day long shortness of breath and orthopnea. The patient gave a history of prior diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) a few years back, while he had been treated with a beta-blocker (metoprolol 50 mg bid). Until 3 days ago, he was in functional class NYHA II. In addition, he noted...

Methods Post-natal brain MRI were performed without sedation in 24 infants with common CHD before and after the cardiac surgery on a Siemens Avanto 1.5T system (Erlangen) after hospital IRB approval. 18 of 24 subjects also had fetal MRI using previously described technique [5] and BV and fetal weight were calculated [3]. The normal brain weights were obtained from published autopsy data [6] and...

BACKGROUND Growth hormone (GH) treatment may improve morphological and functional cardiac parameters in adults with GH deficiency (GHD). However, clinical trials reported to date involved few patients and yielded variable effects. METHODS AND RESULTS We systematically reviewed blinded, placebo-controlled, randomized clinical trials of GH treatment in adults with GHD and open studies in patien...

Anxiety and phobia in dental procedures are common deterrents for patients visiting the dental care unit. For these individuals, procedural sedation may aid in completion of dental treatments. In most cases, the patients are conscious during sedation, thereby allowing spontaneous ventilation. Intravenous sedation (IVS) is widely used during dental treatment to relieve patient anxiety. IVS is th...

OBJECTIVE The aim of this study was to estimate the accuracy of prenatal assessment of interventricular septum (IVS) thickness, right myocardial wall thickness (RMWT), and left myocardial wall thickness (LMWT) by two-dimensional (2D) ultrasound for the prediction of perinatal mortality and postnatal diagnosis of hypertrophic cardiomyopathy (HCM) among diabetic pregnant women. SUBJECTS AND MET...

BACKGROUND The role of coronary atherosclerosis (CA+) in ventricular remodeling after aortic valve replacement (AVR) for isolated aortic stenosis (AS) is not well defined. We sought to evaluate the impact of not revascularized moderate coronary atherosclerosis in long-term left ventricular (LV) remodeling after AVR. METHODS We assessed by coronariography the coronary artery disease in 66 pati...