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Biomedical subjects

S Rutherford

Publications and source records attributed to S Rutherford.

At least 19 recordsLinked to original sources
PubMed2001

Association of estrogen receptor and glucocorticoid receptor gene polymorphisms with sporadic breast cancer.

We have utilized a cross-sectional association approach to investigate sporadic breast cancer. Polymorphisms in 2 candidate genes, ESRalpha and GRL, were examined in an unrelated breast cancer-affected and age-matched control population. Several polymorphic regions within the ESRalpha gene have been identified, and some alleles of these polymorphisms have been found to occur at increased levels in breast-cancer patients. Additionally, variations in GRL have the potential to disrupt cell transcription and may be associated with cancer formation. We analyzed 3 polymorphisms, from codons 10 (TCT to TCC), 325 (CCC to CCG) and 594 (ACA to ACG) of ESRalpha, and a highly polymorphic dinucleotide repeat, D5S207, located within 200 kb of the GRL. When allelic frequencies of the codon 594 (exon 8) ESR polymorphism were compared between affected and unaffected populations, a significant difference was observed (p = 0.005). Results from the D5S207 dinucleotide repeat located near GRL also indicated a significant difference between the tested case and control populations (p = 0.001). Allelic frequencies of the codon 10 and codon 325 ESR polymorphisms were not significantly different between populations (p = 0.152 and 0.181, respectively). Our results indicate that specific alleles of the ESR gene (alpha subtype) and a marker for the GRL gene locus are associated with sporadic breast-cancer development in the tested Caucasian population and justify further investigation of the role of these and other nuclear steroid receptors in the etiology of breast cancer.

Alleles↗
PubMed2001

Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension.

Essential hypertension is a common multifactorial trait that results in a significantly increased risk for heart attack and stroke. The condition has a genetic basis, although at present the number of genes is unknown. In order to identify such genes, we are utilising a linkage scanning approach using microsatellite markers and affected sibships. Here we provide evidence for the location of at least one hypertension susceptibility locus on chromosome 17. Analysis of 177 affected sibpairs gave evidence for significant excess allele sharing to D17S949 (SPLINK: P=0.0029; MAPMAKER SIBS: P=0.0033; ASPEX: P=0.0061; GENEHUNTER: P=0.0096; ANALYZE (SIBPAIR): P=0.0025) on 17q22-24, with significant allele sharing also indicated for an additional marker, D17S799 (SPLINK: P=0.025; MAPMAKER SIBS: P=0.025) located close to the centromere. Since these two genomic regions are well separated, our results indicate that there may be more than one chromosome 17 locus affecting human blood pressure. Moreover, further investigation of this chromosome, utilizing a polymorphism within the promoter of the iNOS candidate gene, NOS2A, revealed both increased allele sharing among sibpairs (SPLINK: P=0.02; ASPEX: P=0.00004) and positive association (P=0.034) of NOS2A to essential hypertension. Hence these results indicate that chromosome 17 and, more specifically, the NOS2A gene may play a role in human essential hypertension.

Alleles↗
PubMed2001

A new polymorphism for the RI22H mutation in hereditary pancreatitis.

BACKGROUND AND AIMS: Hereditary pancreatitis (HP) is a rare form of recurrent acute and chronic pancreatitis. Mutations in the cationic trypsinogen (protease serine 1, PRSS1) gene have been identified as causing HP. The R122H (previously known as R117H) mutation is the commonest and can be detected by a single and rapid polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) based technique using the AflIII enzyme. This test however may give a false negative result in the presence of a neutral polymorphism within the enzyme recognition site. The frequency of this event was examined by sequencing studies in patients with HP and in healthy controls. METHODS: Of 60 families identified by the UK and Ireland consortium of EUROPAC (European Registry for Hereditary Pancreatitis and Familial Pancreatic Cancer), 51 were screened for R122H, N29I, and A16V mutations using standard techniques, and by sequencing of all five exons of cationic trypsinogen. RESULTS: Twelve families had the N29I mutation, one family had A16V and, on standard testing, 15 families had the R122H mutation. An additional family with the R122H mutation was found on direct sequencing. The false negative result was due to a neutral polymorphism C-->T at the third base of the codon, not affecting the amino acid coded for, destroying the AflIII restriction site. This polymorphism was not observed in 50 DNA specimens (100 chromosomes) from controls nor from 50 individuals from PRSS1 mutation negative HP families. A novel mutation specific PCR was developed to avoid this pitfall. CONCLUSIONS: One of the 16 families with HP and an R122H mutation contained a polymorphism affecting the AflIII restriction site. Adoption of an alternative R122H assay is important for genetic studies in individuals with apparent HP.

Acute Disease↗
PubMed2001

Steps of nuclear pore complex disassembly and reassembly during mitosis in early Drosophila embryos.

The mechanisms of nuclear pore complex (NPC) assembly and disassembly during mitosis in vivo are not well defined. To address this and to identify the steps of the NPC disassembly and assembly, we investigated Drosophila embryo nuclear structure at the syncytial stage of early development using field emission scanning electron microscopy (FESEM), a high resolution surface imaging technique, and transmission electron microscopy. Nuclear division in syncytial embryos is characterized by semi-closed mitosis, during which the nuclear membranes are ruptured only at the polar regions and are arranged into an inner double membrane surrounded by an additional 'spindle envelope'. FESEM analysis of the steps of this process as viewed on the surface of the dividing nucleus confirm our previous in vitro model for the assembly of the NPCs via a series of structural intermediates, showing for the first time a temporal progression from one intermediate to the next. Nascent NPCs initially appear to form at the site of fusion between the mitotic nuclear envelope and the overlying spindle membrane. A model for NPC disassembly is offered that starts with the release of the central transporter and the removal of the cytoplasmic ring subunits before the star ring.

Animals↗
PubMed2000

Early onset and tropical forcing of 100,000-year Pleistocene glacial cycles.

Between 1.5 and 0.6 Myr ago, the period of the Earth's glacial cycles changed from 41 kyr, the period of the Earth's obliquity cycles, to 100 kyr, the period of the Earth's orbital eccentricity, which has a much smaller effect on global insolation. The timing of this transition and its causes pose one of the most perplexing problems in palaeoclimate research. Here we use complex demodulation to examine the phase evolution of precession and semiprecession cycles--the latter of which are phase-coupled to both precession and eccentricity--in the tropical and extratropical Atlantic Ocean. We find that about 1.5 Myr ago, tropical semiprecession cycles (with periods of about 11.5 kyr) started to propagate to higher latitudes, coincident with a growing amplitude envelope of the 100-kyr cycles. Evidence from numerical models suggests that cycles of about 10 kyr in length may be required to explain the high amplitude of the 100-kyr cycles. Combining our results with consideration of a modern analogue, we conclude that increased heat flow across the equator or from the tropics to higher latitudes around 1.5 Myr ago strengthened the semiprecession cycle in the Northern Hemisphere, and triggered the transition to sustained 100-kyr glacial cycles.

Journal Article↗
PubMed2000

Relationships between environmental factors and lung function of asthmatic subjects in south east Queensland, Australia.

Few panel studies have investigated the relationships between air pollutants and air spora and lung function change in asthmatic subjects. This article examines the association of outdoor air pollutant concentrations and air spora with the decrease in lung function (measured by morning peak expiratory flow) of two groups of asthmatic subjects in the subtropical environment of South East Queensland, Australia. Lung function responses were stratified by age, allergy status, and location, and seasonal effects were examined. Allergy status and age were found to be important, with air pollutants such as ozone and particles associated with decreases in lung function in allergic individuals older than 15 years. Fungal spore counts were strongly associated with a decrease in lung function in allergic adults, especially in those over 54 years, only in seasons when these air spora peak. Analysis for the entire study period indicates that the effect of ozone on peak expiratory flow in the allergic group can sometimes be confounded by air spora effects, indicating that in a subtropical climate the impact of ozone on asthma severity can be accurately estimated only when the confounding effects of air spora are included.

Adolescent↗
PubMed1999

Characteristics of rural dust events shown to impact on asthma severity in Brisbane, Australia.

Wind erosion in arid inland Australia leads to dust plumes which can pass over populated coastal areas in Eastern Australia, such as Brisbane. Such events can lead to concerns about respiratory health problems because they significantly increase the fine particle component of atmospheric aerosols. This paper examines the particulate characteristics of 11 dust events in Brisbane and associations with daily diary records (peak expiratory flow, symptoms) of people with asthma, and hospital emergency attendances for asthma during a number of seasons between 1992 and 1994. These dust events are frequently, but not always, characterised by higher particulate levels and higher ratios of fine to coarse particulates. The results indicate that a number of dust events were significantly associated with changes in asthma severity, but general relationships could not be determined. Given that the phenomenon of wind-blown dust is not isolated to the Australian continent, these findings raise important questions about the effects of wind-blown dust in other parts of the world.

Adolescent↗
PubMed1997

Association of a low density lipoprotein receptor microsatellite variant with obesity.

OBJECTIVE: To determine whether a microsatellite polymorphism located towards the 3' end of the low density lipoprotein receptor gene (LDLR) is associated with obesity. DESIGN: A cross-sectional case-control study. SUBJECTS: One hundred and seven obese individuals, defined as a body mass index (BMI) > or = 26 kg/m2, and 163 lean individuals, defined as a BMI < 26 kg/m2. MEASUREMENTS: BMI, blood pressure, serum lipids, alleles of LDLR microsatellite (106 bp, 108 bp and 112 bp). RESULTS: There was a significant association between variants of the LDLR microsatellite and obesity, in the overall tested population, due to a contributing effect in females (chi 2 = 12.3, P = 0.002), but not in males (chi 2 = 0.3, P = 0.87). In females, individuals with the 106 bp allele were more likely to be lean, while individuals with the 112 bp and/or 108 bp alleles tended to be obese. CONCLUSIONS: These results suggest that in females, LDLR may play a role in the development of obesity.

Alleles↗
PubMed1994

Human milk contains granulocyte colony stimulating factor.

Human milk provides the neonate with a variety of balanced nutrients and contains biologically active molecules such as hormones and growth factors. We have utilized a sensitive enzyme immunoassay to detect the granulocyte stimulator, granulocyte colony-stimulating factor (G-CSF) in human milk samples. The 12 milk samples tested contained G-CSF ranging from 45 to 1551 pg/ml.

Adult↗
PubMed1988

Transient ischemic attack: a complication of mitral valve prolapse in pregnancy.

A case of transient ischemic attack presumably due to cardiogenic thromboembolism during pregnancy is described in a 32-year-old woman. The patient had documented mitral valve prolapse which was uncomplicated until this episode. This is the first report in the literature of such a complication during pregnancy. The clinical management is described.

Adult↗
PubMed1986

Fetal heart rate responses to maternal exercise.

The fetal heart rate responses to mild, moderate, and strenuous maternal exercise were studied in 45 healthy subjects. In the majority of cases, the fetal heart rate increased during and after maternal exercise. Fetal bradycardia was recorded in five fetuses; this appears to be a sporadic event. There was no correlation between the individual fetal heart responses, gestational age, exercise intensity, and maternal circulating catecholamines.

Blood Glucose↗
PubMed1986

Computerized survey of lacrimal surgery patients.

A computerized survey of 295 patients undergoing lacrimal drainage surgery within a three-year period where a six-month follow-up was possible was undertaken. The etiology and demographic information regarding tear duct obstruction was assessed. Dacryocystorhinostomy surgery was found to be highly successful (93%), in obstructions of the lacrimal sac and lacrimal duct. The overall success rate in patients with canalicular and common canalicular obstruction undergoing a reconstructive approach was 73%, and those cases where an attempt was made to relieve epiphora with the insertion of a Jones bypass tube had a success rate of 65% on one operation. Most of these Jones tube patients could ultimately be rendered tear-free.

Cicatrix↗
PubMed1984

Silicone tubing used in intubating the lacrimal system. Joining the ends for easy removal.

Experiments were conducted in rabbits using histoacryl glue to join the ends of the silicone tubing used to intubate the lacrimal system. This method avoids the need for knots of suture which occasionally become trapped in the lacrimal sac, making extubation difficult. Rabbits intubated with this method were compared with those intubated with tubing tied by 4-0 prolene suture and untreated controls. The new method was successful during the four months of our study and no significant histopathological effects were observed in the normal canaliculus. The success of the procedure in rabbits led to its use in ten infants with lacrimal obstructions that had not been relieved by previous probings.

Animals↗