Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin.

A case of transcobalamin II (TCII) deficiency in which a total absence of TCII was demonstrated both functionally and immunologically is reported. Unlike previously described patients, this child has been maintained on oral hydroxocobalamin, 2 mg daily, without any parenteral supplementation for the last five years. At the age of six years her development is normal and her health is good. Plasma cobalamin levels are in the range of 3,000 ng/L and most of this appears to be bound to a molecule, which on gel filtration, elutes with albumin. In an extended family study, a clear separation of heterozygotes from both the propositus and from normal subjects suggests that the underlying defect in this condition is confined to a single gene.

Preventive screening of adolescent mothers and infants: Critical variables in assessing risk for child maltreatment.

One hundred, ninety adolescent mother-infant dyads judged to be at extreme risk for relationship failure and possible child maltreatment were assessed by a trained nurse/social worker team within 24 hours of delivery of the infant. The statewide Central Registry of child maltreatment reports was later examined to learn which mothers had been reported since the initial assessment 12 to 27 months earlier. The subsamples of this resulted in 172 Non-CPS mother-infant dyads and in 18 CPS-involved mother-infant dyads. Comparison of differences revealed that the key signals of risk were the personal, environmental, and educational isolations from those elements critical to the successful rearing of a child. Necessary, but absent, elements of successful maternal-infant relationship were found to include: knowledge of child care techniques and alternatives discipline and parent-skills; more appropriate assessments of mother-infant dyads; and greater social support for the mother's seeking and finding other appropriate child care helpers.

Prostacyclin and thromboxane A2 in thrombotic thrombocytopenic purpura.

A study was conducted to find whether a deficiency in prostacyclin (prostaglandin I2; PGI2) is implicated in the pathogenesis of thrombotic thrombocytopenic purpura. Plasma samples from two patients with the disease before treatment and from 22 healthy controls were therefore assayed for concentrations of 6-oxo-PGF1 alpha and thromboxane B2, the stable metabolites of PGI2 and thromboxane A2, respectively. Neither of the patients responded to treatment, which in one case included an infusion of PGI2. Both patients had normal concentrations of 6-oxo-PGF1 alpha and thromboxane B2, thus implying that circulating amounts of PGI2 and thromboxane A2 were also normal. These findings suggest that 6-oxo-PGF1 alpha may be detectable in normal amounts in thrombotic thrombocytopenic purpura and that the condition need not be associated with a high concentration of thromboxane A2.

Child maltreatment risk among adolescent mothers: a study of reported cases.

A large random sample of reported child maltreatment incidents are analyzed in terms of the research question: Is there a higher incidence of maltreatment by women who were adolescent mothers than by older mothers? Results from the official records studied indicate similar dynamic variables reported for both groups of mothers. The nature and limitations of the data are discussed, and implications and suggestions for further research are presented.

The effect of danazol on menorrhagia, coagulation mechanisms, haematological indices and body weight.

Eighteen patients with objective evidence of menorrhagia (more than 80 ml menstrual blood loss) were treated with danazol for twelve weeks. Danazol significantly reduced the menstrual blood loss from 231 +/- 39 ml (mean +/- SEM) to 135 +/- 33 ml in the first treatment month and the mean loss thereafter was only 21 ml and 3 ml for the second and third months respectively. A rapid increase in haemoglobin level and a reduction in the number of days of bleeding were also observed on danazol treatment. No important effect on the coagulation profile was observed during the period of study. Three months after stopping danazol, menstrual blood loss (103 +/- 27 ml) was still significantly less than the pre-treatment loss.

Factor-VIII consumption in pre-eclampsia.

In 50 women with high-risk pregnancies, increased factor-VII consumption, as estimated by the difference between the levels of factor-VIII-related antigen and factor-VIII clotting activity, correlated with the severity of pre-eclampsia, particularly when measured by increases in plasma-urate. Longitudinal studies of the evolution of pre-eclampsia demonstrated that increased factor-VIII consumption usually but not always developed before hyperuricaemia. The earliest time that abnormal factor-VIII consumption was demonstrated was at 18 weeks' gestation in a woman who had had two previous stillbirths. Subcutaneous heparin and oral dipyridamole failed to reverse the coagulation abnormality, and the fetus died in utero at 28 weeks' gestation. The renal and coagulation changes characteristic of pre-eclampsia were also seen in a patient without hypertension. This suggests that the concept of pre-eclampsia may need to be widened to include a non-hypertensive syndrome characterised by these changes in clotting and renal function.

Linkage relationships between beta- and delta-structural loci and African forms of beta thalassaemia.

Five families are described in which there have been matings between individuals doubly heterozygous for beta thalassaemia and the delta-chain variant haemoglobin A2' to normal persons. In all there were 24 informative offspring. There were no crossovers between the beta-thalassaemia and delta-chain loci; in three of the families the genes were linked in cis and in two families the genes were found in trans. Together with previously reported families there have now been 58 opportunities for crossing over between the beta-thalassaemia and delta-chain loci and there have been two possible and one highly probable crossovers. Of the total of 9 families reported to date 4 have had the genes for beta thalassaemia and Hb A2' in cis and 5 in trans. These findings are contrasted with the findings in families where a beta-chain structural variant and Hb A2' have been observed together and these genes have always been found in trans and never in cis. The reasons for linkage disequilibrium of this type are discussed. It is concluded tentatively that the distance between the delta-structural and beta-thalassaemia loci is greater than that between the delta-structural and beta-structural loci. To date this conclusion can only be applied to the beta+ -thalassaemia and beta-thalassaemia genes as found in the African population, since this is the only population with a high incidence of delta-chain mutants which allow linkage analysis of this type to be carried out.

Linkage relationships between beta- and delta-structural loci and African forms of beta thalassaemia

Five families are described in which there have been matings between individuals doubly heterozygous for beta thalassaemia and the delta-chain variant haemoglobin A2' to normal persons. In all there were 24 informative offspring. There were no crossovers between the beta-thalassaemia and delta-chain loci; in three of the families the genes were linked in cis and in two families the genes were found in trans.Together with previously reported families there have now been 58 opportunities for crossing over between the beta-thalassaemia and delta-chain loci and there have been two possible and one highly probable crossovers. Of the total of 9 families reported to date 4 have had the genes for beta thalassaemia and Hb A2' in cis and 5 in trans. These findings are contrasted with the findings in families where a beta-chain structural variant and Hb A2' have been observed together and these genes have always been found in trans and never in cis. The reasons for linkage disequilibrium of this type are discussed. It is concluded tentatively that the distance between the delta-structural and beta-thalassaemia loci is greater than that between the delta-structural and beta-structural loci. To date this conclusion can only be applied to the beta+ -thalassaemia and beta-thalassaemia genes as found in the African population, since this is the only population with a high incidence of delta-chain mutants which allow linkage analysis of this type to be carried out. (AU)

Estimation of cerebrospinal fluid protein.

Three turbidometric methods and one method using ultraviolet spectrophotometry for estimating total cerebrospinal fluid protein have been examined. The necessity for preliminary dialysis renders the ultraviolet method unsuitable for routine use. The turbidometric method of Meulemans (1960) using a sulphosalicylic acid-sodium sulphate precipitating fluid is better than a method using sulphosalicylic acid alone which is affected by the albumin-globulin ratio, and has a greater sensitivity and better reproducibility than a method using trichloracetic acid as a precipitant. Turbidity may be measured with a spectrophotometer or an MRC grey wedge photometer with human or bovine albumin as a standard. This method deserves wider acceptance.