Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981.

An earlier preliminary paper is expanded. Women who had given birth to one or more infants with a neural tube defect were recruited into a trial of periconceptional vitamin supplementation. Two hundred mothers attending five centres were fully supplemented (FS), 50 were partially supplemented (PS), and 300 were unsupplemented (US). Neural tube defect recurrences in the study pregnancies were 1(0.5%), in FS, none in PS, and 13 (4%) in US mothers. The difference in outcome between FS and US mothers is significant. The most likely explanation is that supplementation has prevented some neural tube defects, but further studies are needed.

Recurrence of orbital cysts in the branchio-oculo-facial syndrome.

Two sibs with the branchio-oculo-facial syndrome are reported. They both have orbital haemangiomatous cysts, which is a previously unreported feature. Both parents are clinically normal and unrelated. This disorder has been reported showing autosomal dominant transmission so this family could represent either an autosomal recessive form or germline mosaicism for the dominant gene.

Neural tube defect recurrence after 'partial' vitamin supplementation.

A total of 227 mothers enrolled for periconceptional multivitamin supplementation because of previous neural tube defect (NTD) births took vitamins for less than the recommended minimum period (at least 28 days before conception until two menstrual periods have been missed). Of 213 examined infants/fetuses born to these partially supplemented mothers, two had NTD, one of whom followed four previous NTDs. The observed NTD recurrence rate is similar to that observed in fully supplemented mothers. A further 14 mothers started supplements before the second missed period but after the normal time of neural tube closure. Three of their offspring had NTD. The significance of this apparently high recurrence rate is discussed.

Robertsonian translocation and an extra microchromosome: aetiology and effect on meiotic segregation.

A familial Robertsonian translocation accompanied by a marker chromosome t(14q;21q), + iso dic (?14?21)(pter----q11.1) is described. The evolution of the marker is considered in relation to a model proposed by ultrastructural studies of acrocentric bivalents for the formation of Robertsonian-type translocations. Previous reports have suggested that a marker chromosome may be of pathogenetic importance for non-disjunction of chromosome 21. The effect of the marker chromosome on meiotic segregation in the family described and its implications upon genetic counselling are considered.

Recurrent neural tube defects, risk factors and vitamins.

Data from our trial of periconceptional vitamin supplementation for the prevention of neural tube defects have been analysed to assess the influence of various factors on recurrence rates of neural tube defect. Our data suggest that the risk of recurrence of neural tube defect is influenced by the number of previous neural tube defects, area of residence, immediately prior miscarriage, and interpregnancy interval. None of these factors, however, contributed any significant differential risk between supplemented and unsupplemented mothers. Hence we conclude that the highly significant difference in recurrence rates of neural tube defect between supplemented and unsupplemented mothers was due to vitamin supplementation.

Traumatic perforation of the hypopharynx--an unusual form of abuse.

Two infants presented with extensive interstitial emphysema of the neck as a result of non-accidental trauma to the pharynx. The clinical presentation, diagnosis, and management of this unusual form of child abuse is discussed.

Regional coordinators of continuing pharmacy education. Seven years later.

In 1976 a regional network of coordinators of continuing education was established in British Columbia to increase the accessibility of programs to all pharmacists. The purpose of this paper is to report the contributions of the network to continuing education since its inauguration. As of 1983, 94 pharmacists have been trained to assist with the design and management of continuing education programs and they have had a significant impact on regional programming. When yearly summary statistics from the four years prior to the network are compared to the seven subsequent years an approximate five-fold increase in the average number of programs is found. There is also a greater than two fold increase in the average number of contact hours and an approximate six-fold increase in the average number of registrations. The network of coordinators has increased not only the quantity but also the relevancy of programs by focusing on regional needs. In addition, the network has had spill-over benefits to the University of British Columbia and the licensing body in some of their other province-wide activities such as teleconferencing competency assessment, and poison prevention programs.

Further experience of vitamin supplementation for prevention of neural tube defect recurrences.

In accordance with a previous protocol, a second cohort of 254 mothers with a history of previous neural tube defect (NTD) births was before a subsequent conception and continued until the time of the second missed menstrual period. There were 2 NTD recurrences (0.9% of 234 infants/fetuses examined), which is significantly fewer than the 11 NTD recurrences (5.1% of 215 infants/fetuses examined) born to 219 unsupplemented (US) mothers in the same centres over the same period. When the data for the two cohorts were combined, the overall recurrence rates were 0.7% for 454 fully supplemented (FS) mothers and 4.7% for 519 US mothers. The recurrence rates after 1 previous NTD were 0.5% for FS and 4.2% for US mothers: after 2 or more previous NTDs, 2.3% for FS and 9.6% for US. There were no recurrences among the offspring of a further 114 mothers whose duration of supplementation fell short of the full regimen (partially supplemented, PS).

Apparent prevention of neural tube defects by periconceptional vitamin supplementation.

An earlier preliminary paper is expanded. Women who had given birth to one or more infants with a neural tube defect were recruited into a trial of per conceptional vitamin supplementation. Two hundred mothers attending five centres were fully supplemented (FS), 50 were partially supplemented (PS), and 300 were unsupplemented (US). Neural tube defect recurrences in the study pregnancies were 1 (0.5%), in FS, none in PS, and 13 (4%) in US mothers. The difference in outcome between FS and US mothers is significant. The most likely explanation is that supplementation has prevented some neural tube defects, but further studies are needed.

Hypoproteinaemia, oedema, and anaemia: an unusual presentation of cystic fibrosis in dizygotic twins.

The rare combination of oedema, hypoproteinaemia, and anaemia as a presenting feature of cystic fibrosis in dizygotic twins of opposite sex is described. The features of this syndrome together with pathogenesis, treatment, and prognosis are discussed.

Performance on PMPs and performance in practice: are they related?

A study was conducted to test the criterion validity of a set of patient management problems (PMPs) through a direct behavior-by-behavior comparison of performance on the PMPs and performance in the practice setting. The PMP cases were replicated in the practice setting through the use of role-playing actors. At the time of the encounter the subjects in the study believed these actors to be real patients. Between PMP performance and practice performance there were major inconsistencies, characterized by substantially greater errors of omission and commission in the practice setting.

Possible prevention of neural-tube defects by periconceptional vitamin supplementation.

Women who had previously given birth to one or more infants with a neural-tube defect (NTD) were recruited into a trial of periconceptional multivitamin supplementation. 1 of 178 infants/fetuses of fully supplemented mothers (0.6%) had an NTD, compared with 13 of 260 infants/fetuses of unsupplemented mothers (5.0%).

Congenital heart disease in Liverpool: 1960--69.

The incidence of congenital heart disease (C.H.D.) in Liverpool from 1960 to 1969 inclusive has been determined from the Liverpool Congenital Abnormalities Registry with a follow-up period of 3 to 12 years. The incidence is 6-6 per 1000 total births and this probably represents a very small degree of under-reporting. There is no consistent seasonal variation in the incidence of any of the main congenital heart lesions. In general, infants with C.H.D. tend to be of lower birth weight and born after shorter gestation than controls. This is most conspicuous with patent ductus arteriosus (P.D.A.). Females preponderate in P.D.A. and males in transposition. There is probably also a male preponderance in coarctation and aortic stenosis. Fallot's tetralogy is associated with increased maternal age and parity. Pregnancies leading to the birth of a baby with C.H.D. are complicated by threatened abortion more frequently than are controls. The concordance rate for C.H.D. in twins is low. Monozygotic twins are more liable to C.H.D. than are dizygotic twins. The incidence of C.H.D. in the siblings of affected propositi is 2-3 times that expected. Affected sibs often have the same lesion. About 20 per cent of infants with C.H.D. have associated major defects notably monogolism and defects of the alimentary, skeletal, genito-urinary and nervous systems. These are responsible for the early death of about one quarter of all infants born with C.H.D. The data presented here suggest that environmental rather than genetic factors are predominantly responsible for congenital heart disease.