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Biomedical subjects

A Lynn

Publications and source records attributed to A Lynn.

29 records · Page 2Linked to original sources
PubMed1996

Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3.

In an effort to contribute to the transcript map of human chromosome 21 and the understanding of the pathophysiology of trisomy 21, we have used exon trapping to identify fragments of chromosome 21 genes. Two trapped exons, from pools of chromosome 21-specific cosmids, showed homology to the Drosophila white (w) gene. We subsequently cloned the corresponding cDNA for a human homologue of the Drosophila w gene (hW) from human retina and fetal brain cDNA libraries. The gene belongs to the ATP-binding cassette transporter gene family and is homologous to Drosophila w (and to w genes from other species) and to a lesser extent to Drosophila brown (bw) and scarlet (st) genes that are all involved in the transport of eye pigment precursor molecules. A DNA polymorphism with 62% heterozygosity due to variation of a poly (T) region in the 3' UTR of the hW has been identified and used for the incorporation of this gene to the genetic map of chromosome 21. The hW is located at 21q22.3 between DNA markers D21S212 and D21S49 in a P1 clone that also contains marker BCEI. The gene is expressed at various levels in many human tissues. The contributions of this gene to the Down syndrome phenotypes, to human eye color, and to the resulting phenotypes of null or missense mutations are presently unknown.

ATP-Binding Cassette Transporters↗
PubMed1995

NHS dentistry--the road to a better future.

Dentistry in this country is approaching a major cross roads. Although not everyone will take the same route, now is the time to examine the options and identify a way ahead for the majority. This article seeks to examine the history which has led to the numerous changes and pressures evident in dentistry today; it examines the various components and argues that these lead inexorably to certain conclusions.

Career Mobility↗
PubMed1995

A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination.

We have used a half-YAC containing the human chromosome 21 long-arm telomere to clone, map, and characterize a new dinucleotide repeat polymorphism (D21S1575) close to 21qter. This marker is < 120 kb from the telomeric (TTAGGG)n sequences and is the most distal highly polymorphic marker on chromosome 21q. This marker has a heterozygosity of 71% because of a variable (TA)n repeat embedded within a long interspersed element (LINE) element. Genotyping of the CEPH families and linkage analysis provided a more accurate determination of the full length of the chromosome 21 genetic map. A highly significant difference was detected between male and female recombination rates in the telomeric region: in the most telomeric 2.3 Mb of chromosome 21q, recombination was only observed in male meioses.

Base Sequence↗
PubMed1993

Nevus of Ota acquisita of late onset.

Nevus of Ota is a melanotic pigmentary disorder characterized by its distinctive cutaneous distribution involving skin innervated by the trigeminal nerve. Most cases are clinically manifest at birth or around puberty; however, acquired lesions in adults have been reported. We report a case of nevus of Ota acquisita that occurred in an eighty-one-year-old man.

Aged↗
PubMed1985

Effects of mechanical ventilation on cardiopulmonary function in children after open-heart surgery.

The reduction in functional residual capacity (FRC) after anesthesia and thoracic surgery may result in atelectasis, hypoxia, and respiratory failure. Mechanical ventilation reverses the FRC reduction but may also decrease cardiac output and increase the pulmonary vascular resistance index (PVRI) in some patients. The cardiopulmonary effects of stopping mechanical ventilation after open-heart surgery were studied in 17 children. FRC, arterial pH, and PaO2 were significantly reduced, while PaCO2, oxygen consumption, and right ventricular stroke work index significantly increased. Mean FRC on spontaneous respiration was below normal despite continuous positive airway pressure. PVRI increased significantly in patients whose FRC fell below 22 ml/kg on spontaneous respiration. The PVRI increase was most marked in patients with pre-existing pulmonary vascular disease. These results confirm the value of appropriate mechanical ventilation in the early postoperative management of children undergoing open-heart surgery, particularly those with pulmonary vascular disease.

Cardiac Output↗
PubMed1984

Increased intracranial pressure: an indication to decompress a tension pneumomediastinum.

A 7-yr-old boy undergoing treatment for respiratory failure after near-drowning developed a pneumomediastinum. Intracranial hypertension refractory to previously successful therapy led to placement of a mediastinal tube, after which intracranial pressure decreased and was easier to control. A pneumomediastinum may cause intracranial hypertension by interfering with venous drainage from the cranium.

Child↗