Biomedical subjects
D M Gilchrist
Publications and source records attributed to D M Gilchrist.
Cardiac compression and decompensation due to hiatus hernia.
A seventy-seven year old man with long standing hiatus hernia, coronary artery disease and pulmonary fibrosis developed left atrial compression from incarceration of a paraesophageal hernia.
Marfan syndrome or Marfan-like connective-tissue disorder.
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Schimke immuno-osseous dysplasia.
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Life-threatening status asthmaticus at 12.5 weeks' gestation. Report of a normal pregnancy outcome.
A 26-year-old woman had a life-threatening attack of status asthmaticus at 12.5 weeks of pregnancy. Subsequently, an apparently normal male infant was born at full-term.
Recurrent spontaneous pregnancy loss. Investigation and reproductive follow-up.
Between July 1, 1985, and Dec 31, 1988, 187 women referred to the University of British Columbia Medical Genetics Clinical Unit for two or more consecutive, unexplained, spontaneous pregnancy losses were evaluated for seven categories of possible etiology. Follow-up of the total subsequent reproductive experience was obtained in 171 cases. For those who became pregnant, achievement of a live birth was tabulated according to the number of previous pregnancy losses, age at the investigation and abnormalities found in the investigation. Overall, 81.8% of those who became pregnant after the evaluation and with a known outcome or outcomes at follow-up had a live birth-78% of primary aborters (no previous liveborn infant) and 86.3% of secondary aborters (previous liveborn infant).
Myelodysplasia and leukemia syndrome with monosomy 7: a genetic perspective.
Acquired monosomy 7 is a frequent finding in myelodysplastic syndromes, including acute myelogenous leukemia. A subset of these patients has been described with an apparently distinct condition: myelodysplasia and leukemia syndrome with monosomy 7 (MLSM7). We report 2 brothers, 3 and 5 years of age, with MLSM7 and review other reports of familial occurrence. Genetic factors appear to be important in the cause of MLSM7, but the reported families do not fit neatly into any monogenic pattern. Recognition of the frequently familial nature of this condition requires hematological evaluation and genetic counseling for the families of patients with MLSM7.
Maternal serum alpha-fetoprotein in pregnancy.
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Turner syndrome and its variants.
Turner syndrome is suspected in females with short stature, gonadal dysgenesis, and lymphedema; however, there are no pathognomonic features of Turner syndrome, and the disorder should be considered in any girl with short stature or delayed puberty. This article discusses the natural history of Turner syndrome and complications that occur in various organ systems; it reviews the physical features and complications seen with various karyotypic changes in Turner syndrome. Age-specific screening and therapies are covered.
Ependymomas in two sisters and a maternal male cousin with mosaicism with monosomy 22 in tumour.
A family with two sisters and their mother's male cousin had ependymomas. Of note is the fact that chromosome analysis on the tumour of the younger sister showed two cell lines, one a normal female line, the other with monosomy of chromosome 22.
Teratogenesis and iv cyclophosphamide.
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Hereditary colon cancer.
Hereditary colon cancer comprises approximately 10% of total colon cancer, a disease that affects 6% of the North American population. Knowledge of molecular genetics of familial adenomatous polyposis and hereditary nonpolyposis colon cancer has improved our diagnostic abilities and management, as well as furthered our understanding of the mechanisms of tumour initiation and progression.