[Incidence of familial defective apolipoprotein B-100 in cases of patients diagnosed with familial hypercholesterolemia]. / A familiáris defektív apolipoprotein B-100 elöfordulási gyakorisága klinikailag familiáris hypercholesterinaemiásnak tartott betegek között.

Familial Hypercholesterolemia (FH) and Familial Defective Apolipoprotein B-100 (FDB) are monogenic, autosome, dominantly inherited diseases appearing as type II/a primary hypercholesterolemia. The frequency of the heterozygositic forms is 1:700-1:500 in European population. Both forms of hypercholesterolemia causes early onset coronary heart diseases (CHD). According to the recommendations of the international MED-PED program (Make Early Diagnoses--Prevent Early Death), we found 73 FH cases and their 377 first relatives (parents, siblings, children) were also assessed. 156 patients were diagnosed clinically FH (131 alive and 25 deceased), and 31.8% of the males and 32.4% of females suffered from early onset CHD. One family with FH consists of 5.46 members on the average and there are 2.39 FH patients in one family. In our FH cohort four patients with FDB (R3500Q mutation) were diagnosed with allelspecific PCR, and the mutation was detectable also in 9 cases out of 11 living family members. The plasma total cholesterol level of the FDB patients--especially at younger age--was very close to the normal values, which is in contrast to the findings in FH patients. Nevertheless, FDB can be one of the independent causes of the early onset CHD. Therefore, in families with high frequency of cardiovascular diseases the R3500Q mutation has to be considered.

Retrospective validation of a physiological model of glucose-insulin interaction in type 1 diabetes mellitus.

We have previously described a physiological model of glucose-insulin interaction in insulin-dependent (type 1) diabetes mellitus which has been developed for patient and medical staff education about diabetes mellitus, as well as possibly for clinical use. The model attempts to reflect the underlying (patho)physiology of insulin action and carbohydrate absorption in quantitative terms such as insulin sensitivity, volume of glucose and insulin distribution and maximal rate of gastric emptying. The model's predictions also allow a 24 h simulation of patient blood glucose profiles to be generated. Advice is provided by a qualitative knowledge based system which suggests what the next step in improving glycaemic control might be for a given patient, e.g. 'increase before breakfast long-acting insulin by 2 units'. Validation work performed on a previous version of the knowledge based system has demonstrated that it can provide qualitative advice comparable to that of a clinician. Furthermore, bench testing of the predictive accuracy of the model has yielded encouraging results. We therefore set out to perform a preliminary retrospective medical validation of the physiological model using data collected by 30 insulin-dependent diabetic patients attending diabetes out-patient clinics at various centres throughout Europe. We found that the physiological model could only be parameterized for data from 24 (80%) of the 30 patients in the study. Comparison of observed and predicted blood glucose data from these 24 patients over a period of 5-6 days following parameter estimation revealed a mean (+/- SD) root mean square deviation between measured and simulated blood glucose values of 1.93 +/- 0.86 mmol l-1. The implications of these results are discussed.

[Does the renal threshold change? Insulin therapy, based on urine glucose concentration, controlled by a dosage-measuring computer]. / Változik-e a veseküszöb? Vizeletcukor koncentráción alapuló, célszámítógép által irányított insulin kezelés.

The insulin treatment of 8 diabetic patients was controlled by a microprocessor in order to compare dosage adjustment based on blood glucose and urine glucose determination. In the first month of the treatment the modifications in the insulin doses were suggested by the devices accordingly to blood glucose values, determined by the patients at home four times daily. Then the treatment was guided by the first voided urine glucose concentrations for three months. The treatment based on urine glucose concentration insured the good metabolic control previously achieved by blood glucose values on the basis of blood glucose profile and glycohaemoglobin values. There was no difference between the two treatments in the occurrence of hypoglycemia. The average of the patients renal threshold measured by the authors' method came close to the normal value and proved to be almost constantly related to every single patient. The results support glucosuria-based dosage adjustment as a supplementary for glucose control.

Management of diabetics with the use of a microprocessor: comparison of insulin treatments based on blood and urine glucose levels.

The insulin treatment of 8 insulin-dependent diabetics was controlled with a microprocessor (Better Control Medical Computer, BCMC, Inc., Toronto, Canada) with information derived from blood or first voided urine glucose concentrations assessed by reagent strips four times a day, before the three main meals and bedtime snack. The microprocessor recommends modification of the insulin doses so as to reach a pre-prandial blood glucose value of 110 mg/dl or a urine glucose concentration of 0.1 g/dl. During the first two weeks self-management was uniformly applied by the patients, based on their blood glucose concentration. Subsequently, it was continued by the patients who were divided into two groups, one using the blood, the other the urine glucose concentrations, each for three weeks, alternately. During microprocessor treatment the patients' mean blood glucose profiles decreased from 152 +/- 37 mg/dl to 126 +/- 28 mg/dl. No difference was found between treatments based on blood or urine glucose concentrations concerning either the mean blood glucose profiles or the number of hypoglycemic episodes in the presence of an average glucose threshold and good renal function. The first voided urine glucose concentration and mean and maximal blood glucose values obtained at the time of urine filtration were closely correlated (r = 0.82 and 0.86, p less than 0.001).