Repair of anomalous origin of the left coronary artery in the infant and small child

Anomalous origin of the left coronary artery from the pulmonary artery is associated with myocardial infarction, left ventricular dysfunction, mitral valve dysfunction and, occasionally, intracardiac congenital abnormalities. A technique that utilizes a flap of the anterior wall of the pulmonary artery to serve as a neocoronary artery to direct aortic flow from a created aortopulinonary window to the pulmonary artery orifice of the anomalous left coronary artery was used in five patients aged 2.5 months to 4.75 years. Two patients were less than 4 months of age at operation. There was one death 2 days after operation and one late death. The two youngest patients required mitral valve replacement. Two of the three surviving patients are well at follow-up at 7 to 44 months. One patient has been lost to follow-up study. One patient had postoperative catheterization which showed an intact repair. The pulmonary artery neocor-onary procedure is applicable to infants and small patients with anomalous origin of the left coronary artery from the pulmonary artery

Large-scale mapping of human protein–protein interactions by mass spectrometry

Mapping protein–protein interactions is an invaluable tool for understanding protein function. Here, we report the first large-scale study of protein–protein interactions in human cells using a mass spectrometry-based approach. The study maps protein interactions for 338 bait proteins that were selected based on known or suspected disease and functional associations. Large-scale immunoprecipitation of Flag-tagged versions of these proteins followed by LC-ESI-MS/MS analysis resulted in the identification of 24 540 potential protein interactions. False positives and redundant hits were filtered out using empirical criteria and a calculated interaction confidence score, producing a data set of 6463 interactions between 2235 distinct proteins. This data set was further cross-validated using previously published and predicted human protein interactions. In-depth mining of the data set shows that it represents a valuable source of novel protein–protein interactions with relevance to human diseases. In addition, via our preliminary analysis, we report many novel protein interactions and pathway associations

High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy

Patients with congenital heart disease (CHD) and heterotaxy show high postsurgical morbidity/mortality, with some developing respiratory complications. Although this finding is often attributed to the CHD, airway clearance and left-right patterning both require motile cilia function. Thus, airway ciliary dysfunction (CD) similar to that of primary ciliary dyskinesia (PCD) may contribute to increased respiratory complications in heterotaxy patients

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Feasibility of Low Radiation Dose Retrospectively-Gated Cardiac CT for Functional Analysis in Adult Congenital Heart Disease.

AbstractBackgroundThe use of cardiac computed tomography (CT) in the evaluation of adult congenital heart disease patients is limited due to concerns of high radiation doses. The purpose of this study was to prospectively assess whether low radiation dose cardiac CT is feasible to evaluate ventricular systolic function in adults with congenital heart disease.MethodsThe study group included 30 consecutive patients with significant congenital heart disease who underwent a total of 35 ECG-gated cardiac CT scans utilizing a 320-detector row CT scanner. Each study included a non-contrast scan and subsequent contrast-enhanced retrospectively-gated acquisition. Effective radiation dose was estimated by multiplying the dose length product by a k-factor of 0.014mSv/mGycm.ResultsThe mean age of the patients was 34.4±8.9years, 60% were men, and mean body mass index was 24.2±4.3kg/m2. A majority of patients (n=28, 93.3%) had contraindications to cardiac MRI. A tube potential of 80kV was used in 27 (77.1%) of the contrast-enhanced scans. The mean signal-to-noise and contrast-to-noise ratios were 11.5±3.9 and 10.3±3.7, respectively. The median radiation dose for non-contrast and contrast-enhanced images were 0.1mSv (0.07–0.2mSv) and 0.94mSv (0.5–2.1mSv), respectively. All 35 CT scans were successfully analyzed for ventricular systolic function.ConclusionsA low radiation contrast-enhanced, retrospectively-gated cardiac CT with a median radiation dose of less than 1mSv was successful in evaluating ventricular systolic function in 30 consecutive adult congenital heart disease patients who underwent a total of 35 scans