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Biomedical subjects

D Gilchrist

Publications and source records attributed to D Gilchrist.

15 recordsLinked to original sources
PubMed2004

Factors associated with the initiation of breast-feeding by Aboriginal mothers in Perth.

OBJECTIVES: To identify the prevalence of breast-feeding at discharge and the determinants of breast-feeding initiation amongst Aboriginal women. DESIGN: A prospective cohort study using a self-administered baseline questionnaire and telephone-administered follow-up interviews. SETTING: Six hospitals with maternity wards in Perth, Western Australia. SUBJECTS: Four hundred and twenty-five Aboriginal mothers of newborn infants. RESULTS: At discharge, 89.4% of Aboriginal mothers were breast-feeding. Breast-feeding at discharge was most positively associated with perceived paternal support of breast-feeding, with an adjusted odds ratio (OR) of 6.65 (95% confidence interval (CI) 2.81-15.74), and with maternal age (OR 1.12, 95% CI 1.03-1.22), but negatively associated with parity and having delivered vaginally. CONCLUSION: The factors independently associated with breast-feeding at discharge were similar to those previously identified for a group of non-Aboriginal Perth women, suggesting that separate breast-feeding interventions specially targeted at Aboriginal women are not warranted. The findings do, however, highlight the importance of including the father in the breast-feeding discussions.

Adolescent↗
PubMed2004

Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.

BACKGROUND: Mutations in the E-cadherin (CDH1) gene are a well documented cause of hereditary diffuse gastric cancer (HDGC). Development of evidence based guidelines for CDH1 screening for HDGC have been complicated by its rarity, variable penetrance, and lack of founder mutations. METHODS: Forty three new gastric cancer (GC) families were ascertained from multiple sources. In 42 of these families at least one gastric cancer was pathologically confirmed to be a diffuse gastric cancer (DGC); the other family had intestinal type gastric cancers. Screening of the entire coding region of the CDH1 gene and all intron/exon boundaries was performed by bi-directional sequencing. RESULTS: Novel mutations were found in 13 of the 42 DGC families (31% overall). Twelve of these mutations occur among the 25 families with multiple cases of gastric cancer and with pathologic confirmation of diffuse gastric cancer phenotype in at least one individual under the age of 50 years. The mutations found include small insertions and deletions, splice site mutations, and three non-conservative amino acid substitutions (A298T, W409R, and R732Q). All three missense mutations conferred loss of E-cadherin function in in vitro assays. Multiple cases of breast cancers including pathologically confirmed lobular breast cancers were observed both in mutation positive and negative families. CONCLUSION: Germline truncating CDH1 mutations are found in 48% of families with multiple cases of gastric cancer and at least one documented case of DGC in an individual under 50 years of age. We recommend that these criteria be used for selecting families for CDH1 mutational analysis.

Adolescent↗
PubMed2000

Deconstructing Mendel: new paradigms in genetic mechanisms.

As knowledge of the mechanisms of genetic action expands, this new information must be incorporated into the whole. The result is that old concepts are modified or deleted or new paradigms are created. The authors review advances in the understanding of traditional and nontraditional inheritance, including genomic imprinting and mitochondrial inheritance.

DNA, Mitochondrial↗
PubMed1999

Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.

Ehlers-Danlos syndrome (EDS) type IV is an autosomal dominant connective tissue disorder. Early morbidity and mortality results from rupture of vessels and internal organs. A large kindred with EDS type IV was studied clinically, and the biochemical defects and underlying mutation in the COL3A1 gene that encodes the chains of type III procollagen were identified. A G-->A transition results in a single amino acid substitution, G571S, in the triple helical domain of the products of one COL3A1 allele. Although the clinical findings seen on examination are characteristic of EDS type IV, longevity is longer than that seen in many families and there is less pregnancy-associated morbidity or mortality than in some families. This suggests that some clinical aspects of EDS type IV may be related to the nature of the mutation and its effect on the behavior of the protein.

Ehlers-Danlos Syndrome↗
PubMed1998

H2O2 acts on cellular membranes to generate ceramide signaling and initiate apoptosis in tracheobronchial epithelial cells.

Hydrogen peroxide (H2O2) is an inflammatory oxidant which contributes to the pathogenesis of chronic diseases such as lung injury of the respiratory tract, atherosclerosis and cancer. The mechanisms and target sites of this reactive oxidant are mainly unknown. So far there are opposing reports as to whether reactive oxidants inhibit or promote apoptosis. We activated the death pathway in primary tracheobronchial epithelial (TBE) cells with H2O2 (20-200 microM) and observed the morphological changes, DNA laddering patterns, and DNA fragmentation associated with apoptosis. Elevation of ceramide with exogenous ceramide analogs was sufficient for apoptosis induction with the same characteristics and in the same time frame. H2O2 induced rapid sphingomyelin hydrolysis to ceramide, the elevation of which paralleled the induction of apoptosis. Furthermore, H2O2 acted directly on TBE cells membrane preparations devoid of nuclei, stimulating sphingomyelin hydrolysis through a neutral Mg2+ dependent sphingomyelinase (SMase). These data suggest that the formation of ceramide from sphingomyelin in the plasma membrane is a key event in H2O2-induced apoptosis in tracheobronchial epithelial cells.

Animals↗
PubMed1996

Alzheimer's disease: interaction of apolipoprotein E genotype, family history of dementia, gender, education, ethnicity, and age of onset.

We evaluated 197 patients with predominantly late-onset Alzheimer's disease (AD) who belonged to several ethnic groups and analyzed the relationship of age of onset of AD to the presence or absence of several risk factors in this entire group of patients. The apolipoprotein E (apoE) epsilon 4 allele frequency, which was 29% in all patients (compared with the reported population mean of 13.7%, p < 0.001, did not vary significantly between ethnic groups but declined significantly with increasing age. The apoE epsilon 2 allele frequency was 3%, compared with the reported population mean of 7.4% (p = 0.001). The frequency of a positive family history of dementia in first-degree relatives (FH +) (overall 45%) did not vary significantly between ethnic groups. ApoE epsilon 4-positive (epsilon 4+) patients tended to have a higher FH + rate (58%) than apoE epsilon 4-negative (epsilon 4-) patients (40%) (p = 0.02). When the potential risk factors of gender, education, FH+ status, and epsilon 4+ status were examined together in a multiple linear-regression analysis, FH+ and epsilon 4+ status (but not gender or education) were significant (they were both associated with an earlier age of onset of AD). In a post-hoc analysis, we found a reduced age of onset in women, but not men, who were both FH + and epsilon 4+. Additionally, those probands who were epsilon 4+ were more likely to inherit the disease from their mothers than their fathers. The mechanism by which epsilon 4+ and FH+ status operate as risk factors may be by their effect on the age of onset of AD.

Black or African American↗
PubMed1994

Org 2766 prevents disruption of vestibular compensation by an NMDA receptor antagonist.

The adrenocorticotrophic hormone fragment 4-9 (ACTH-(4-9)) analog, Org 2766 has been shown to accelerate vestibular compensation. However, N-methyl-D-aspartate (NMDA) receptor antagonists disrupt the recovery process. When Org 2766 was administered at a dose of 20 nmol/kg every 4 h for 52 h, it prevented the disruption of compensation usually produced by a single 5 mg/kg i.p. injection of the NMDA receptor antagonist 3-([+]-2-carboxy-piperazin-4yl)-propyl-1-phosphonic acid (CPP). NMDA receptor antagonists and ACTH-like peptides may produce their effects on compensation by acting directly or indirectly at the same receptor complex.

Adrenocorticotropic Hormone↗
PubMed1992

Screening for multiple endocrine neoplasia type 2A with DNA-polymorphism analysis.

Nine chromosome 10 DNA markers (FNRB, D10S34, D10Z1, MEN203, D10S94, RBP3, D10S15, MBP [48.11], D10S22) were typed in two large Canadian pedigrees with multiple endocrine neoplasia type 2A (MEN 2A). These markers and the gene for MEN 2A (MEN2A) are believed to be in one linkage group spanning approximately 15 cM (male). MEN203 and D10S94 were informative and tightly linked to MEN2A with no recombinants observed in 26 meiotic events. D10S15 (MCK2), widely used in DNA genotyping predictions, demonstrated two recombinants in these two families. The use of multiple flanking markers increases both the likelihood of informativeness and the accuracy of risk assessments for predictive testing. We were able to assign a risk estimate for all 10 at-risk individuals.

Female↗
PubMed1989

Phrenic involvement in Charcot-Marie-Tooth disease. A pathologic documentation.

A 69-year-old woman diagnosed as having Charcot-Marie-Tooth disease (CMT) for 30 years' duration died of respiratory failure secondary to diaphragmatic weakness. At autopsy, identical neuropathic changes were found in phrenic and other affected somatic peripheral nerves. We conclude that the phrenic nerve may be involved by the neuropathy of at least some forms of CMT.

Aged↗
PubMed1979

Surgical safaris with the East Africa Flying Doctor Service.

A few hundred small mission and government hospitals serve the 20 million people who live in rural East Africa. The physician-patient ratio is 1:25,000. Surgical support to many of these hospitals is provided through the East Africa Flying Doctor Service of the African Medical and Research Foundation. Small aircraft that are coordinated by a wide radio network bring surgical capability to a maximum number of patients in this area of 1,300,000 sq km (500,00 sq miles). The clinical problems, differential diagnoses, operative decisions, risk, and complications of surgical care all have a distinctly African quality. The working conditions and variety and magnitude of problems provide a stimulating challenge. Surgical safaris are a catalyst for gaining acceptance of modern scientific methods by Africa's tradition-oriented tribesmen.

Aircraft↗