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P A Baird

Publications and source records attributed to P A Baird.

6 recordsLinked to original sources
PubMed1979

Complete androgen insensitivity with a normal amount of 5 alpha-dihydrotestosterone-binding activity in labium majus skin fibroblasts.

We have studied labium majus skin fibroblast strains from six unrelated, previously unreported, patients with complete androgen insensitivity (CAI). Four have markedly reduced specific 5 alpha-dihydrotestosterone-binding (DHT-binding) activity (receptor-negative). The other two (receptor-positive) have normal activities in whole-cell homogenates, the 100,000g supernatant of cell sonicates prepared in 0.4 MKCl, purified whole nuclei, and the nuclear fraction that resists extraction with 0.4 MKCl. In one of the two, the DHT-binding macromolecules in the cytosol and 0.4 M KCl-extractable nuclear fraction have normal molecular sieving profiles and binding activities. One of the receptor-positive patients has maternally related affected relatives in three successive genetations. Appreciable unexplained interexperimental variation of the DHT-binding activities in genital skin fibroblast strains demands that multiple assays be performed on a strain before its receptor status is classified quantitatively. In our experience to date with genital skin fibroblasts, four of 13 propositi with CAI have been receptor-positive.

Adolescent↗
PubMed1978

Maternal age and Down syndrome: age-specific incidence rates by single-year intervals.

Maternal age-specific risks of giving birth to a child with the Down syndrome (DS) are given by single-year age intervals. Such data are of value for more precise genetic counseling and in cost-benefit analyses of prenatal diagnosis programs. The data were obtained by linking records of children with DS at the British Columbia Health Surveillance Registry ( BCHSR ) to the appropriate birth registrations to derive maternal ages. The data related to 519 affected children out of a total of 354,880 live births in British Columbia between 1961 and 1970. The results, which are based on a high level of ascertainment, are compared to those reported in the only other published study relating to risks by single-year maternal age groupings, where completeness of ascertainment was estimated to be only 38%.

Adolescent↗
PubMed1978

Congenital anomalies of the central nervous system incidence in British Columbia, 1952-72.

The records of an ongoing health surveillance registry that utilizes multiple sources of ascertainment were used to study the incidence rates of congenital malformations of the central nervous system in children born in British Columbia during the period 1952-72. No overall increase in incidence rate of these anomalies was detected over the study period and the total frequency ascertained was three per thousand births. For anencephaly, spina bifida, hydrocephaly, and other CNS anomalies, the estimated incidence rates per 1,000 births are 0.6, 0.8, 1.0 and 0.5 respectively. A greater incidence rate or neural tube closure defects was found in females than in males and this difference was most marked amongst the stillbirths. The data indicate that multiple sources of ascertainment and follow-up of children beyond one year after birth are necessary for adequate reporting even for these sorts of defects which have generally been though to be readily recognized at or shortly after birth.

Anencephaly↗
PubMed1976

Congenital generalized fibromatosis: an autosomal recessive condition?

Congenital generalized fibromatosis is a rare condition which is often misdiagnosed and given an erroneously poor prognosis. Five new cases are presented in this report, all initially having been diagnosed as neurofibromatosis. The histopathological findings are presented and the differential diagnosis is discussed. The natural history of the disorder appears to include an initial phase of proliferation soon after birth with appearance of new tumor masses. Providing these do not involve vital viscera, the patient survives with regression and eventual disappearance of all lesions. Spontaneous regression occurred in all five patients reported. Two sets of sibs occurred in the cases described. The possible genetic aspects of this are discussed and the pertinent literature reviewed.

Female↗