Homozygous protein C deficiency can be detected by prenatal diagnosis

Homozygous protein C deficiency (HPCD) with purpura fulminans is a rare condition with an estimated incidence of 1-2 per 400,000 births. About 20 case reports have appeared since the first one was published in 1983. HPCD provides an excellent illustration of the fundamental importance of the protein C anticoagulant pathway. This severe coagulopathy results in serious organ damage, often already in utero, and without treatment it is incompatible with life. The treatment options include fresh frozen plasma and protein C concentrate in the acute phase, followed by oral anticoagulant therapy. Over 160 different point mutations in the protein C gene have been identified in recent years, offering new possibilities for prenatal diagnosis. The article describes the case of a family who lost two children with congenital HPCD. But where the specific point mutation was identified thus enabling prenatal diagnosis to be performed in a subsequent pregnancy.     

Significance of IgG for the activity of factor XII measured in human plasma

The plasma level of factor XII (FXII) was measured in samples from healthy young men. The activated contact factor was assayed as prekallikrein activator (PKA), as S-2222 amidase, and in radial immunodiffusion tests. By removing the bulk of IgG on protein G columns before the activation procedure, the functional activities increased to about 135%. In such test preparations, PAGE immunoblot experiments with polyclonal antibodies against FXII showed, in addition to FXIIa (80 kD), a double band with a molecular weight of about 46 kD. This protein could also be detected with a light-chain-specific monoclonal antibody to FXII, but not with such an antibody directed against its heavy chain. The 46-kD band was also observed in plasma deficient in FXII. The amidase assays indicated that the minor part of FXIIa was present in some kind of association with another protease. To obtain a correct estimation of total FXIIa in the amidase assays a sufficiently high level of FXI was required compared to that of FXII. The PKA assays were generally carried out with a prekallikrein (PK) substrate containing IgG. By replacing this substrate by PK free from IgG additional PKA activity was observed, the activity appearing also in plasma deficient in FXII.     

Effectiveness of a worksite smoking cessation program in the military. Program evaluation

1. A program evaluation was conducted to evaluate the effectiveness of the smoking cessation program. Substantiating data enhances the value of health promotion programs as key components of the health care delivery system. 2. Persons enrolled in the 8 week smoking cessation program and members of a comparison group were administered an evaluation tool prior to participating in the program, with a second evaluation tool upon completion of the program. Afterward, the smoking status of the members of both groups was evaluated at 3 month intervals for a period of 1 year. 3. Of the participants, 26.7% were not smoking 12 months after the program, compared to 6.9% of the comparison group. Of those participants who resumed smoking, 64% smoked less than half the amount they smoked before taking the class.     

Chromosomal response of insect and mammalian cells to streptonigrin: a comparative study

Respiratory syncytial virus (RSV) infections are characterized by upper or lower respiratory tract symptoms including bronchiolitis and pneumonia. Apnoea may be the first sign of disease in children with RSV infection. The aims of this study were the identification of independent risk factors for RSV associated apnoea and the prediction of the risk for mechanical ventilation in children with RSV associated apnoea. Medical records of children younger than 12 months of age admitted with RSV infection between 1992 and 1995 to the Sophia Children's Hospital, were reviewed. Demographic parameters, clinical features and laboratory parameters (SaO2, pCO2 and pH) were obtained upon admission and during hospitalization. Children with and without apnoea were compared using univariate and multivariate logistic and linear regression analysis. One hundred and eighty-five patients with RSV infection were admitted of whom 38 (21%) presented with apnoea. Patients with apnoea were significantly younger, had a significantly lower temperature, higher pCO2 and lower pH and had on chest radiographs also more signs of atelectasis. The number of patients admitted to the ICU because of mechanical ventilation and oxygen administration was significantly higher in children with RSV associated apnoea. Apnoea at admission was a strong predictor for recurrent apnoea. The relative risk for mechanical ventilation increased with the number of episodes of apnoea: 2.4 (95% CI 0.8-6.6) in children with one episode of apnoea (at admission) versus 6.5 (95% CI 3.3-12.9) in children with recurrent episodes of apnoea. CONCLUSIONS: Age below 2 months is the strongest independent risk factor for RSV associated apnoea. Apnoea at admission increases the risk for recurrent apnoea. The risk for mechanical ventilation significantly increases in children who suffer from recurrent apnoea.     

Catecholamine uptake, accumulation, and release in acute porphyria

Hypertension and tachycardia are well known features of acute porphyria and have been shown to be related to increased circulating catecholamines. The mechanism by which circulating catecholamines are increased was studied using the isolated perfused rat heart and human platelets as a model of adrenergic neuronal function. It was found that neither delta-aminolevulinate (ALA) nor porphobilinogen (PBG) blocked uptake or caused release in the isolated perfused rat heart. Platelets from six patients with acute prophyria, three in remission and three latent, with matching normal controls were studied with regard to their uptake of [(3)H]norepinephrine in the presence of ALA or PBG. It was found that ALA and PBG significantly reduced uptake and accumulation of [(3)H]-norepinephrine in patients with acute porphyria; however, no similar reduction in uptake and accumulation was observed in the platelets of normal controls. Therefore, it appears that there is a latent defect in the catecholamine uptake and (or) accumulation of platelets of patients with acute prophyria which only manifests itself in the presence of ALA or PBG. If platelet uptake serves as a model of adrenergic neuron uptake, this suggests that elevated circulating catecholamine levels during acute attacks of acute porphyria are caused at least partially by blockade of re-uptake into the sympathetic neurons.     

The presence of genital mycoplasmas in women of reproductive age

Although 5-HT1 and 5-HT2 receptor activity is known to influence copulation, the effects of 5-HT3 receptor-selective drugs on sexual activity have yet to be systematically studied. The following experiments investigated the effects of the 5-HT3-selective antagonists MDL 72222, ondansetron and ICS 205-930 on female sexual behaviour; male rats were studied using ondansetron and granisetron. These compounds influenced neither male nor female copulatory behaviours, suggesting that 5-HT3 receptors contribute little to the modulation of sexual activity. 5-HT3 receptor antagonists block certain opioid-induced behaviours and opioids selectively inhibit sexual behaviours; therefore, the ability of ondansetron and ICS 205-930 to modify morphine-attenuated copulatory activity was also tested. While morphine inhibited copulation, 5-HT3 antagonists failed to reverse the effects.     

The use of salbutamol in obstetrics

Sympathomimetic amines have been used with the aim of abolishing uterine contractions. On the basis of results from an in vivo technique for testing the specificity and affinity of the beta2-receptor stimulating agents, salbutamol was used for a clinical trial. Five case histories were selected in order to illustrate the possibility of utilizing salbutamol in emergency cases with the aim of achieving uterine relaxation during the period of time between the admission of the patient and the commencement of delivery by, for example, caesarean section.     

The effect of the molluscicide N-tritylmorpholine on transmission of Fasciola hepatica

Field trials were carried out in north Devon to investigate the relationship between molluscicide treatment of pastures and control of liver fluke infection in sheep. Seven tracer lambs per plot were used to estimate the infectivity of 17 pairs of 0.20 hectare plots. One plot in each pair was treated with the molluscicide Frescon (N-tritylmorpholine). There was a highly significant difference (P less than 0.001) between the numbers of Fasciola hepatica recovered from lambs grazed on treated and untreated plots in the period after molluscicide treatment. The overall degree of snail control achieved by one application of molluscicide to 17 plots was about 90 per cent and this was matched by a comparable degree of liver fluke control. There was considerable variation between the plots and there was no simple correlation between snail numbers and liver fluke numbers (r = -0.03). The use of molluscicides is discussed in relation to the biotic potential of Lymnaea truncatula and environmental factors which limit its population growth.