Basic elements of gene mapping and identification.

The Human Genome Project has vastly facilitated the localization, identification, and characterization of disease-related genes by means of positional cloning. Application of this technique has elucidated the pathophysiology of several inheritable cardiovascular disorders and will ultimately change the clinical evaluation of and approach to these diseases. Over the next several years, efforts aimed at gene identification, DNA sequencing, correlation of genetic and physical maps, and manipulation of large segments of DNA will lead to identification of numerous candidate genes for positional analysis and will provide ample opportunity to identify the genetic abnormalities in other cardiovascular disorders.

The use of the Beck Airway Airflow Monitor for verifying intratracheal endotracheal tube placement in patients in the pediatric emergency department and intensive care unit.

Traditional methods of confirming that the endotracheal tube is in the trachea are often unavailable or difficult to perform in some clinical situations, such as interfacility transport or other times outside the neonatal intensive care unit. We evaluated the Beck Airway Airflow Monitor (BAAM), through which airflow makes a whistling sound, for its safety and efficacy in neonates. We studied 46 neonates ranging in weight from 0.

Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome.

The atypical presentation of CATCH 22 raises several important concerns. First, in this patient, as in others, the heart defects were found in association with subtle facial abnormalities but with few of the other criteria normally seen in CATCH 22. This association alone may be sufficient to raise suspicion that an interstitial 22q11 deletion may be present.

Sequence analysis of the hutH gene encoding histidine ammonia-lyase in Pseudomonas putida.

The complete nucleotide sequence of the hutH gene, encoding histidine ammonia-lyase (histidase), in Pseudomonas putida ATCC 12633 has been determined from the appropriate portions of the hut region that had been cloned into Escherichia coli. The resulting DNA sequence revealed an open reading frame of 1,530 base pairs, corresponding to a protein subunit of approximate molecular weight 53,600, in the location previously identified for the histidase gene by Tn1000 mutagenesis. Translation began at a GTG codon, but direct protein sequencing revealed that the initiating amino acid was removed posttranslationally to provide an N-terminal threonine; 11 additional residues completely agreed with the predicted amino acid sequence.