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P Dear

Publications and source records attributed to P Dear.

9 recordsLinked to original sources

Sequence of Plasmodium falciparum chromosomes 1, 3-9 and 13.

Since the sequencing of the first two chromosomes of the malaria parasite, Plasmodium falciparum, there has been a concerted effort to sequence and assemble the entire genome of this organism. Here we report the sequence of chromosomes 1, 3-9 and 13 of P. falciparum clone 3D7--these chromosomes account for approximately 55% of the total genome. We describe the methods used to map, sequence and annotate these chromosomes. By comparing our assemblies with the optical map, we indicate the completeness of the resulting sequence. During annotation, we assign Gene Ontology terms to the predicted gene products, and observe clustering of some malaria-specific terms to specific chromosomes. We identify a highly conserved sequence element found in the intergenic region of internal var genes that is not associated with their telomeric counterparts.

Animals↗

SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers.

We have cloned the human full-length cDNA SEL1L, which is highly similar to the C. elegans sel-1 gene, an important negative regulator of the "notch" pathway which acts as a key regulator of the cellular proliferation and specification processes in both vertebrates and invertebrates. The SEL1L gene maps to 14q24.3-31 and here we report its fine localization by HAPPY mapping, which determines its molecular distance to microsatellite markers isolated in the region. We have found two new polymorphic (CA)n microsatellites located in the gene, and have identified the exon-intron boundaries. The gene is composed of 21 exons spanning 70 kb of genomic DNA. Human SEL1L protein exhibits a high degree of similarity compared to the mouse and nematode homologs.

Amino Acid Sequence↗

Life-threatening transient neonatal Behçet's disease.

This case report describes transient neonatal Behçet's disease, with life-threatening complications in the neonate. Male Baby R developed blood-streaked diarrhoea 5 days after birth, followed by recurrent severe scarring orogenital ulceration and vasculitic skin lesions. In this sixth week of life, he developed stridor leading to a respiratory arrest and necessitating assisted ventilation. No infective cause was isolated. Baby R responded well to i.v. and subsequent oral steroid therapy. At 8 weeks old he had fully recovered and remains well. Baby R's mother was not previously known to have Behçet's disease. During the pregnancy, she began to suffer orogenital ulceration, associated with skin lesions typical of Behçet's disease. Mild orogenital ulceration has become recurrent.

Adult↗

The role of core biopsy in the diagnosis of mammographically detected lesions.

BACKGROUND: Both stereotactic imaging and ultrasound have been used to localize non-palpable breast lesions for core biopsy analysis. In particular, stereotactic core breast biopsy with a dedicated recumbent mammographic unit is an accurate and reliable technique, and this has been substantiated in a number of recent prospective studies comparing percutaneous core biopsy with open excisional biopsy. METHODS: This article reviews biopsies of 521 lesions from 502 cases using both stereotactic localization (469 lesions) and ultrasound (33 lesions). The types of breast cancer and benign breast disease diagnosed with core sampling are reviewed. In this series it was not intended to compare all the results of core biopsies with those of open excisional biopsy, but a subset group, which comprised certain benign lesions and malignancies, as well as lesions diagnosed on core biopsy in which the radiology and pathology did not correlate, was further evaluated and compared to the findings with open biopsy. The cases where there were differences in core and excisional biopsy diagnosis are discussed. RESULTS: In this series the benign to malignant ratio was 2.7:1, in other words, 27% of the lesions biopsied were malignant. The sensitivity for detecting cancer was 97% with the positive predictive value being 99%. CONCLUSIONS: This series further substantiates the accuracy of core biopsy. It is recommended that certain lesions diagnosed as benign on core biopsy histology should also proceed to open biopsy. Correlation between clinical findings, radiology and pathology further improves the reliability of core biopsy under imaging guidance.

Adenocarcinoma↗

The 3-M syndrome: risk of intracerebral aneurysm?

We describe a child with typical features of the 3-M syndrome who presented with acute hydrocephalus owing to haemorrhage from one of two intracranial cerebral vascular aneurysms. We suggest that other children with this disorder should be screened for similar complications.

Cerebral Angiography↗