Identification of microdeletion and microduplication syndromes by chromosomal microarray in patients with intellectual disability with dysmorphism.

Background: A retrospective analysis using chromosomal microarray in syndromic patients with intellectual disability from genetic clinics of a tertiary healthcare center in India was conducted.

Aim: To identify the spectrum of chromosomal abnormalities detected on microarray analysis.

Settings And Design: Cases were identified among those with intellectual disability with dysmorphism attending genetic clinics of a tertiary care center.

Differing autonomic responses to dobutamine stress in the presence and absence of myocardial ischaemia.

Key Points: Dobutamine stress echocardiography is a validated tool for the non-invasive evaluation of myocardial ischaemia and enables the recording of heart rate variability in non-resting conditions. In this study we determined whether individuals with transient myocardial ischaemia had different autonomic responses to the stress of dobutamine infusion compared to non-ischaemic (normal) responders. Non-ischaemic responders had a residual predominance of parasympathetic over sympathetic activity.

The distribution and prognosis of anomalous coronary arteries identified by cardiovascular magnetic resonance: 15 year experience from two tertiary centres.

Background: Aberrant coronary arteries represent a diverse group of congenital disorders. Post-mortem studies reveal a high risk of exercise-related sudden cardiac death in those with an anomalous coronary artery originating from the opposite sinus of Valsalva (ACAOS) with an inter-arterial course. There is little documentation of lifetime history and long-term follow-up of patients with coronary artery anomalies.

Appearance of microvascular obstruction on high resolution first-pass perfusion, early and late gadolinium enhancement CMR in patients with acute myocardial infarction.

Background: The presence and extent of microvascular obstruction (MO) after acute myocardial infarction can be measured by first-pass gadolinium-enhanced perfusion cardiovascular magnetic resonance (CMR) or after gadolinium injection with early or late enhancement (EGE/LGE) imaging. The volume of MO measured by these three methods may differ because contrast agent diffusion into the MO reduces its apparent extent over time. Theoretically, first-pass perfusion CMR should be the most accurate method to measure MO, but this technique has been limited by lower spatial resolution than EGE and LGE as well as incomplete cardiac coverage.

Is sensible use being made of an inpatient Holter monitoring and transthoracic echocardiogram service within acute medicine?

Transthoracic echocardiograms (TTE) and 24-hour Holter recordings are commonly requested investigations for patients presenting with symptoms thought to be due to underlying cardiac pathology. The objective of this study was to audit the use of inpatient TTE and Holter monitors in acute medical patients under the care of physicians other than cardiologists within a tertiary cardiology referral centre. This was accomplished by a retrospective analysis of 4,623 TTE and 3,145 Holters reported by cardiologists between 8 October 1999 and 3 November 2005.