Search PubMed⌕ Search

Biomedical subjects

C E Jackson

Publications and source records attributed to C E Jackson.

173 records · Page 10Linked to original sources
PubMedDate not supplied

Neonatal nemaline myopathy with abundant intranuclear rods.

A term hypotonic female infant was born to a primigravida mother. The infant required mechanical ventilation from birth until death at 5 weeks of age. An elevated serum creatine kinase of 1300 IU l-1 lead to a quadriceps muscle biopsy at 3 days of age. The biopsy showed numerous intranuclear inclusions on light microscopy. Electron microscopy revealed the inclusions to be rod (nemaline) bodies and were located in 80% of the muscle nuclei. Cytoplasmic rod bodies were also present in 50% of the muscle fibers, often arising from Z discs. The intranuclear rods were more than ten times larger than the cytoplasmic rods. There have been eight reported cases of abundant intranuclear rods in nemaline myopathy: three adult onset; one childhood onset; and four neonatal (including this case). Six of the cases (all of the neonatal and two adult onset) died due to respiratory failure and pneumonia. While intranuclear rods are unusual in nemaline myopathy, they occur in both adult and neonatal cases, and their presence is often associated with a fatal outcome.

Cell Nucleus↗
PubMedDate not supplied

Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage.

Multiple endocrine neoplasis type 2A (MEN2A) is one of several kinds of cancers that appear to be inherited in an autosomally dominant fashion. We have assigned the MEN2A locus to chromosome 10 by linkage with a new DNA marker (D10S5). The linkage led us to investigate other chromosome 10 markers and demonstrate linkage between the disease locus and the interstitial retinol-binding protein (IRBP) gene. The D10S5 locus was sublocalized to 10q21.1 by hybridization in situ and the IRBP gene to p11.2----q11.2 with a secondary site at q24----q25. The linkages were established using 292 members of five families, three different restriction fragment length polymorphisms (RFLPs) at D10S5 and two RFLPs recognized by the IRBP probe. The recombination frequencies from pairwise linkage analysis between the disease and two marker loci D10S5 and IRBP were 0.19 and 0.11, with maximum lod scores of 3.6 and 8.0 respectively. Ordering of the three loci by multipoint analysis placed the IRBP gene approximately midway between the disease and D10S5 loci.

Chromosome Mapping↗