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Biomedical subjects

D Browne

Publications and source records attributed to D Browne.

At least 37 records · Page 2Linked to original sources
PubMed1994

A gene for episodic ataxia/myokymia maps to chromosome 12p13.

Episodic ataxia (EA) is a rare, familial disorder producing attacks of generalized ataxia, with normal or near-normal neurological function between attacks. Families with autosomal dominant EA represent at least two distinct clinical syndromes. One clinical type of EA (MIM 160120) includes individuals who have episodes of ataxia and dysarthria lasting seconds to minutes. In addition, myokymia (rippling of muscles, diagnosable by electromyography) is evident during and between attacks. Since K+ channel genes are candidate genes for EA, we tested markers near known K+ channel genes for linkage. Using a group of Genethon markers from one such region--chromosome 12p--we found evidence of linkage in four EA/myokymia families. A maximum combined lod score of 13.6 was obtained at theta = 0, with the marker D12S99. A human Ca++ channel gene, CACNL1A1, and three human K+ channel genes--KCNA5, KCNA6, and KCNA1--map close to D12S99, but the Ca++ channel gene is unlikely to be the site of the defect, because crossovers have been observed to occur between the disease gene and a CA-repeat marker located close to this gene. Studies of a large EA family with a different clinical phenotype (MIM 108500), which lacks myokymia but is associated with nystagmus, have excluded the gene causing that disease from the chromosome 12p locus.

Chromosome Mapping↗
PubMed1993

Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment.

X-linked hypohidrotic ectodermal dysplasia (EDA) has been localized to the Xq12-q13.1 region. A panel of genomic DNA samples from 80 unrelated males with EDA has been screened for deletions at seven genetic loci within the Xq12-13 region. A single individual was identified with a deletion at the DXS732 locus by hybridization with the mouse genomic probe pcos169E/4. This highly conserved DNA probe is from locus DXCrc169, which is tightly linked to the Ta locus, the putative mouse homologue of EDA. The proband had the classical phenotype of EDA, with no other phenotypic abnormalities, and a normal cytogenetic analysis. A human genomic DNA clone, homologous to pcos169E/4, was isolated from a human X-chromosome cosmid library. On hybridization with the cosmid, the proband was found to be only partially deleted at the DXS732 locus, with a unique junctional fragment identified in the proband and in three of his maternal relatives. This is the first determination of carrier status for EDA in females, by direct mutation analysis. Failure to detect deletion of the other loci tested in the proband suggests that the DXS732 locus is the closest known locus to the EDA gene. Since the DXS732 locus contains a highly conserved sequence, it must be considered to be a candidate locus for the EDA gene itself.

Adult↗
PubMed1992

Protocol for the treatment of radiation injuries.

Despite adequate precautionary measures and high-quality safeguard devices, many accidental radiation exposures continue to occur and may pose greater risks in the future, including radiation exposure in the space environment. The medical management of radiation casualties is of major concern to health care providers. Such medical management was addressed at The First Consensus Development Conference on the Treatment of Radiation Injuries, Washington, DC, 1989. The conference addressed the most appropriate treatment for the hematopoietic and infectious complications that accompany radiation injuries and for combined radiation and traumatic/burn injuries. Based on the evidence presented at the conference, a consensus statement was formulated by expert physicians and scientists. The recommended therapies, including a suggested algorithm incorporating these recommendations for the treatment of radiation injuries, will be discussed.

Anti-Bacterial Agents↗
PubMed1992

High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus.

The X-linked hypohidrotic ectodermal dysplasia (EDA) locus has been previously localized to the subchromosomal region Xq11-q21.1. We have extended our previous linkage studies and analyzed linkage between the EDA locus and 10 marker loci, including five new loci, in 41 families. Four of the marker loci showed no recombination with the EDA locus, and six other loci were also linked to the EDA locus with recombination fractions of .009-.075. Multipoint analyses gave support to the placement of the PGK1P1 locus proximal to the EDA locus and the DXS453 and PGK1 loci distal to EDA. Further ordering of the loci could be inferred from a human/rodent somatic cell hybrid derived from an affected female with EDA and an X;9 translocation and from studies of an affected male with EDA and a submicroscopic deletion. Three of the proximal marker loci, which showed no recombination with the EDA locus, when used in combination, were informative in 92% of females. The closely linked flanking polymorphic loci DXS339 and DXS453 had heterozygosities of 72% and 76%, respectively, and when used jointly, they were doubly informative in 52% of females. The human DXS732 locus was defined by a conserved mouse probe pcos169E/4 (DXCrc169 locus) that cosegregates with the mouse tabby (Ta) locus, a potential homologue to the EDA locus. The absence of recombination between EDA and the DXS732 locus lends support to the hypothesis that the DXCrc169 locus in the mouse and the DXS732 locus in humans may contain candidate sequences for the Ta and EDA genes, respectively.

Base Sequence↗
PubMed1991

Retroperitoneal and pelvic CT of patients with AIDS: primary and secondary involvement of the genitourinary tract.

Although genitourinary tract disorders are common in acquired immunodeficiency syndrome (AIDS), little attention has been paid to their manifestations on computed tomographic (CT) scans. The authors reviewed the CT scans of 86 patients infected with the human immunodeficiency virus for CT manifestations of primary or secondary involvement of the genitourinary tract. Genitourinary tract abnormalities identified in the 86 patients included nephromegaly in 34 (40%), hilar adenopathy in 30 (35%), bladder wall thickening in 19 (22%), medullary hyperattenuation in 12 (14%), renal calcifications in seven (8%), adnexal masses in five (6%), hydronephrosis in four (5%), pyelonephritis in three (3%), renal abscesses in three (3%), and solid renal masses in three (3%). Although these abnormalities are seen on CT scans in many other diseases, in the AIDS patient they often indicate the presence of an AIDS-related renal disease or involvement of the genitourinary tract by an AIDS-related neoplasm or infection.

AIDS-Associated Nephropathy↗
PubMed1985

Can general practitioners influence exercise habits? Controlled trial.

A health promotion campaign in the community organised by the general practitioner was evaluated by the use of a questionnaire before and after the campaign, both in the village where the campaign was based and in a control village. There was a general increase in the amount of exercise that people in both villages took. The results showed that having received a questionnaire, and been subject to the campaign, more people took exercise regularly.

England↗
PubMed1985

Ischaemia following selfadministered intra-arterial injection of methylphenidate and diamorphine. A case report of treatment with intra-arterial urokinase and review.

A patient presented with a painful, oedematous, cyanosed hand having injected a solution of diamorphine and methylphenidate into his radial artery. Treatment was started with heparin and vasodilators. Benefit from this was limited and a course of intra-arterial urokinase was instituted. This gave almost total resolution of the injury. The mechanisms producing ischaemia following intra-arterial injection of drugs of abuse and possible treatment are discussed.

Accidents↗
PubMed1983

Protein Kinase Activity Associated with the Extracellular and Occluded Forms of the Baculovirus Autographa californica Nuclear Polyhedrosis Virus.

Protein kinase activity is associated with both the extracellular and the occluded forms of Autographa californica nuclear polyhedrosis virus, a baculovirus. Serine and threonine are the predominant amino acids phosphorylated by the kinase activity associated with both viral forms; no phosphotyrosine was detected. The addition of calcium, cAMP, or cGMP has no apparent effect on the amount of phosphorylation or the substrates phosphorylated.

Journal Article↗
PubMed1981

Baculovirus induction of a DNA polymerase.

The baculovirus, Autographa california nuclear polyhedrosis virus, induced a new aphidicolin-sensitive, alpha-like, DNA polymerase upon infection of the lepidopteran noctuid, Trichoplusia ni. The new virus-induced DNA polymerase could be separated from the host alpha-like polymerase by phosphocellulose chromatography. The two polymerases differed in their sensitivities to heat inactivation, high salt concentrations, and 0.1 M phosphate buffer.

Animals↗