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Biomedical subjects

G H Valentine

Publications and source records attributed to G H Valentine.

15 recordsLinked to original sources

Maternal serum alpha-fetoprotein screening: report of a Canadian pilot project.

A pilot project of maternal serum alpha-fetoprotein (MSAFP) screening was carried out in Ontario from 1982 to 1985 to examine the feasibility and acceptability of screening a prenatal population for open fetal neural tube defects. A total of 8140 patients at low genetic risk were screened. Patient acceptance was excellent. Blood samples were taken at 16 to 18 weeks' gestation. If the MSAFP level was elevated, the assay was repeated and an ultrasound examination performed. Amniocentesis was offered to 67 women with unexplained persistently elevated levels. The outcome of pregnancy was known in 7473 patients (91.8%). Seven of nine known open fetal neural tube defects were detected. All were confirmed, and no unaffected fetuses were aborted on the basis of the screening results. The rates of perinatal death (6.7%), intrauterine growth retardation (11.7%) and prematurity (23.3%) were significantly higher among the patients with unexplained elevated MSAFP levels than among those with normal levels (p less than 0.001). Of 20 patients with unexplained low levels, 10 subsequently had spontaneous abortions and 10 gave birth to term appropriate-for-gestational-age infants. Seven of nine patients who gave birth to infants with autosomal trisomy had MSAFP values below the median. The findings indicate that MSAFP screening is feasible, accurate and acceptable in a low-risk area.

Abortion, Spontaneous

Brief clinical report: short rib-polydactyly syndrome, Majewski type.

We describe a baby with external and internal anomalies of the Majewski form of the short rib-polydactyly (SRP) syndromes. Previously unreported abnormal vertebral bodies, delayed ossification of the sternum and fibulae, and a diencephalic hamartoma are noted. These abnormalities and minimal histologic abnormality at the chondro-osseous junction suggest that this syndrome may be heterogeneous or more variable than previously known.

Abnormalities, Multiple

The growth and development of six XYY children: a continuative report.

This report will not recapitulate the parentage, birth history, and early progress of these 6 randomly ascertained XYY boys. Those facts are on record [1]. The boys are the same; the follow-up has remained as unobtrusive and as undisturbing to their parents as possible. The author's anxieties in this respect have not diminished, however; rather they have been increased by a new encounter with the father of Case 1. This report might be criticized as anecdotal rather than factual, but it is perhaps on anecdotal evidence that in daily life one judges normality or otherwise. In the final analysis, it is how these boys function, and will continue to function in their societies, that matters.

Adolescent

Testicular feminization syndrome (androgen insensitivity).

Three children with testicular feminization syndrome have been seen in the past 4 yr. Each presented with at least one large inguinal hernia. The gonad was proven to be a testis by frozen section. Gonadectomy and herniorrhaphy were done. The plan is to remove the second gonad after puberty. The causation and genetics of this condition are briefly discussed.

Androgen-Insensitivity Syndrome