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Biomedical subjects

G Fex

Publications and source records attributed to G Fex.

At least 19 recordsLinked to original sources

A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine).

This study documents the ophthalmological findings in a six-generation. Swedish family with autosomal dominant retinitis pigmentosa with a previously unknown rhodopsin, exon 2, mutation, Arg-135-Leu (CGG to CTG). Six affected patients from the family were available for analysis and were all found to be heterozygous for the mutation, whereas eight clinically normal family members and 29 unrelated normal individuals did not have it. The disease appears to be of a type with comparatively rapid progression to blindness.

Adult

Apolipoprotein A-I:B ratio and B screening: a preliminary study of 10- and 11-year-old children.

The apolipoprotein (apo) A-I:B ratio and the apo B concentration were determined by radial immunodiffusion in dried blood spot samples from 1,767 10- and 11-year-old children. Children with either apo A-I:B ratios below the first percentile or apo B levels above the 99th were recalled and plasma lipid and apolipoprotein profiles were determined for both children and parents. Of 17 children (one family was lost to follow-up) recalled due to abnormal apo A-I:B ratios, apo B levels were above the 95th percentile in 13 children, and of 18 children with abnormal apo B screening levels (three of them also had abnormal apo A-I:B ratios), the plasma apo B level was elevated in 13 children. The 23 children with abnormal blood lipid and/or apolipoprotein concentrations were divided into two main groups: (a) children with type IIa hyperlipoproteinemia and (b) children with hyperapo B lipoproteinemia (hyperapo B) and normal blood lipid levels. Twelve children had the type IIa pattern. Five children likely had familial hypercholesterolemia (FH), the other seven children may have hypercholesterolemia due to obesity or environmental factors. Eleven children had the hyperapo B abnormality. In four children, the elevated apo B level probably was an indication of the occurrence of familial combined hypercholesterolemia (FCH) in the family. Of the remaining seven hyperapo B children, three children also had a parent with hyperapo B and a fourth family suffered from obesity.(ABSTRACT TRUNCATED AT 250 WORDS)

Apolipoprotein A-I

A relationship between retinol and cellular retinol-binding protein concentrations in human squamous cell carcinomas.

The retinol and retinyl ester concentrations in human xenografted squamous cell carcinomas, with various concentrations of cellular retinol-binding protein (CRBP), were studied, as well as the in vivo uptake and esterification in these tumours of labelled retinol, presented as a complex with plasma RBP. The mean retinol concentration in the different tumours was in the range 3.7-6.2 nmol/g protein, and the mean CRBP concentration was between 16 and 69 nmol/g protein. There was a statistically significant correlation between the retinol and the CRBP concentrations in the same tumour (P less than 0.001; r = 0.622). Calculation of the maximal extent of retinol-saturation of CRBP showed low values (range: 9-26%). Retinyl palmitate, the predominant retinyl ester, comprised approx. 70% of the retinyl esters in the tumours. There was no correlation between the concentration of CRBP and that of retinyl palmitate. The uptake of [3H]retinol from intravenously injected retinol-RBP complex was similar in the four human squamous cell carcinomas studied, and not related to their CRBP concentration. 20% of the radioactivity in tumour specimens was lipid soluble, as compared to 96% in liver specimens, showing that in the former a higher fraction metabolised to polar compounds. Taken together, our results suggest that in these squamous carcinoma cells, factors other than cellular CRBP content are the major determinants of net cellular uptake and esterification of retinol. The cellular retinol concentration, on the other hand, appears proportional to CRBP content.

Carcinoma, Squamous Cell

Lipid peroxidation and activity of antioxidant enzymes in muscle of the lower leg before and after arterial reconstruction.

Reperfusion syndrome and lipid peroxidation due to toxic effects of free oxygen radicals might be one pathophysiological cause of the oedema that develops during the first week after a femoro-popliteal reconstruction. This paper reports the activity of the protecting antioxidant enzymes superoxide dismutase (SOD), glutathione peroxidase and catalase in gastrocnemic muscle before and after reperfusion of chronically ischaemic legs with comparison to activities in non-ischaemic muscle. Furthermore the susceptibility to lipid peroxidation in the muscle was measured as thiobarbituric acid reactive material (TBAR). The activities of CuZn SOD, Mn SOD and glutathione peroxidase were equal in normally perfused and chronically ischaemic muscle and there was no difference after reperfusion. Muscle catalase activity was low compared to activity of red blood cells and could not be reliably estimated. There was no difference in iron-stimulated lipid peroxidation of ischaemic and non-ischaemic muscle but in reliably estimated. There was no difference in iron-stimulated lipid peroxidation of ischaemic and non-ischaemic muscle but in muscle biopsied 10 min after reperfusion there was a significant increase in production of TBAR indicating an increased susceptibility for lipid peroxidation at this time. The finding is compatible with the occurrence of an oxidant insult on the muscle at reperfusion. Ischaemia--or reperfusion--induced reductions in activity of antioxidant enzymes are however not related to this reaction.

Arteriosclerosis

Apolipoproteins A-I and B in obese children.

Body mass index (BMI), the distribution of fat, birth weight, physical fitness, apolipoproteins (apo) A-I and B, total cholesterol (TC), and high-density lipoprotein cholesterol (HDLC) were studied in 38 obese 10- to 11-year-olds in comparison to 52 age-matched controls. Obese children had higher concentration of apo B and a lower apo A-I:B ratio. Significant correlations were found between (a) apo A-I and physical fitness (r = 0.35, p less than 0.015), triceps skinfold thickness (r = 0.44, p less than 0.01), and birth weight (r = -0.33, p less than 0.05); (b) physical fitness and triceps skinfold thickness (r = 0.38, p less than 0.05), and (c) the apo A-I:B ratio and triceps skinfold thickness (r = 0.31, p less than 0.05). When both obese and control children were grouped together, a correlation was found between BMI and TC (r = 0.24, p less than 0.05), apo B (r = 0.37, p less than 0.001), and the apo A-I:B ratio (r = -0.31, p less than 0.01). Multiple regression analyses indicated a significant positive contribution to the apo A-I level by HDLC and physical fitness and a negative one by birth weight.

Apolipoprotein A-I

Retinol transfer across and between phospholipid bilayer membranes.

The transfer of retinol across and between bilayer membranes was studied in vitro using unilamellar liposomes and erythrocytes. Transmembrane movement of retinol in phospholipid bilayer membranes was a spontaneous and rapid process with a halflife of less than 30 s. Retinol transfer between liposomes and between liposomes and erythrocytes was also a spontaneous and rapid process with a halflife of less than 10 min. The results suggest that retinol transport in the cell might not need the participation of specific transfer proteins.

Alcohol Dehydrogenase

Clinical utility of serum fructosamine in diabetes mellitus compared with hemoglobin A1c.

To evaluate the clinical utility of fructosamine as a mean of monitor glycaemic control, fructosamine and HbA1c were compared in 46 random out-patients visiting a Diabetic Clinic as well as in 25 inpatients admitted to a Diabetes Day Care Unit. In the out-patients, there were a significant correlations between fructosamine and fasting blood glucose (r = 0.75) as well as between fructosamine and HbA1c (r = 0.91). However, when the reference values were considered, interesting differences were found; only 4% of the out-patients showed normal HbA1c values while 39% showed normal fructosamine values. Accordingly, fructosamine and HbA1c evaluate different aspects of glycaemic control. During an admission of 7 days to the Diabetes Day Care Unit no statistical changes in mean blood glucose and fructosamine values occurred. On the other hand, two weeks after discharge from the Unit, not only fructosamine (3.58 +/- 0.16 mmol vs 3.09 +/- 0.08 mmol/l) but also HbA1c (9.52 +/- 0.38% vs 8.33 +/- 0.23%) had improved significantly. Thus HbA1c measures improvements in glycaemic control as early as 3 weeks after changes in treatment. At six weeks after discharge HbA1c (7.63 +/- 0.34%) but not fructosamine (3.02 + 0.14 mmol/l) had improved further. HbA1c is a reliable marker of glycaemic control while the value of fructosamine in clinical practice is unclear.

Adult

Quantitation and localization of cellular retinol-binding protein in squamous-cell carcinomas of the cervix uteri and of the oral cavity.

The concentration of cellular retinol-binding protein (CRBP) was determined by radioimmunoassay in biopsies of normal mucosa and squamous-cell carcinomas of cervix uteri from 30 women. The tumour tissues contained significantly higher concentrations of CRBP (median = 120 micrograms/g protein) than normal mucosa (median = 32 micrograms/g protein). The distribution of CRBP in normal mucosa and squamous-cell carcinomas from cervix uteri and from oral cavity was evaluated by immunohistochemical techniques. In tissue sections of normal epithelium from the cervix uteri and the oral cavity, the maturing keratinocytes in the prickle-cell layers were moderately or strongly stained when antiserum against CRBP was used, while the proliferating cells in the basal-cell layer were stained only lightly if at all. Squamous-cell carcinomas of the cervix uteri and the oral cavity presented much the same picture. The observed difference in CRBP concentration between squamous-cell carcinomas and normal squamous-cell mucosa may therefore be more quantitative than qualitative.

Adult

Relation between donor transaminase and recipient hepatitis non-A, non-B in Sweden.

The relation between donor alanine aminotransferase (ALT) and recipient post-transfusion hepatitis (PTH) non-A, non-B was studied in patients tested before and 6 and 12 weeks after transfusion. The minimum ALT criterion for PTH was 105 IU/l (greater than 2.5 times the upper normal of 42 IU/l). In 8.8% of donors, ALT was greater than 42 IU/l, and in 2.3% ALT was greater than 63 IU/l, i.e., 1.5 times elevated. PTH non-A, non-B occurred in 14 of 742 recipients. The PTH incidence increased when donor ALT was above 63 IU/l (1.5 vs. 5.6%; p less than 0.05). However, if the confounding factor of volume variations was compensated for, elevated donor ALT and PTH were only statistically linked among recipients less than 70 years (p less than 0.02; Mantel-Haenszel test).

Alanine Transaminase

Studies of the spontaneous transfer of retinol from the retinol:retinol-binding protein complex to unilamellar liposomes.

The transfer of retinol from its complex with the retinol-binding protein to cell surfaces was studied using unilamellar liposomes as a cell surface model. The transfer of retinol to liposomes at 37 degrees C was rapid and reached an apparent equilibrium within 60 min. The amount of retinol transferred to the liposomes at equilibrium was directly proportional to the starting concentration of retinol:retinol-binding protein over a wide range of retinol:retinol-binding protein concentrations and also directly proportional to the concentration of liposomal phospholipid in the system, when the concentration of retinol:retinol-binding protein was held constant. The transfer increased slightly with temperature. Transfer was increased by a factor of 1.8 at pH 4.5 compared to pH around 7. Prealbumin in amounts sufficient to complex all retinol:retinol-binding protein, decreased retinol transfer to liposomes indicating that prealbumin increases the affinity of retinol-binding protein for retinol. Addition of apo retinol-binding protein to the system decreased the transfer of retinol to liposomes considerably probably through competition with the liposomes for retinol. In similarly designed experiments delipidated bovine serum albumin competed much less with liposomes for retinol. The results show that spontaneous transfer of retinol from the retinol:retinol-binding protein complex to liposomal membranes occurs in vitro and suggests that a similar transfer may occur in vivo from retinol:retinol-binding protein to cell surface membranes.

Humans

A circulating complex between ASAT and IgG in serum in an apparently healthy woman.

An elevated level of serum aspartate aminotransferase (ASAT) activity in a subjectively healthy woman was shown to be due to circulating ASAT:IgG complexes. The complexes were demonstrated by taking advantage of the specific interaction between protein A and IgG. Thus, greater than 90% of the patient's ASAT activity in serum could be bound to protein A-Sepharose demonstrating that nearly all the patient's serum ASAT was complexed to IgG. The ASAT-binding capacity of patient serum was calculated as approximately 850 micrograms ASAT/l which corresponds to about 0.01% of patient's IgG.

Adult

Low plasma selenium as a risk factor for cancer death in middle-aged men.

In a population study, 10,000 men (aged 46-48 years) were invited to a health screening program. At follow-up, which was up to eight years later, 61 subjects had died from cancer; from 35 of these subjects, plasma samples were available that were obtained at the initial screening. These samples, together with samples from two living controls for each case, were analyzed for selenium, retinol, cholesterol, triglyceride, and a number of plasma proteins. Plasma selenium was significantly lower (p less than 0.05) in cases than in controls (means: 1.06 vs. 1.12 mumol/l). The proportion of cases increased significantly from the highest to the lowest quintile of plasma selenium, and the relative risk for cancer death was 3.8 times higher in the lowest quintile compared with the highest. Mean plasma retinol was similar in cases (2.53 mumol/l) and controls (2.56 mumol/l). Cases and controls also had similar values for plasma cholesterol, triglyceride, uric acid, apolipoprotein B, orosomucoid, prealbumin, retinol-binding protein, and beta 2-microglobulin. Apolipoprotein AI in plasma was lower among cases (p less than 0.025). Cases smoked significantly more than controls did (p less than 0.05). Data indicate that low plasma selenium was a risk factor for cancer death in middle-aged men who lived in the same area. Further studies are necessary to establish whether differences in selenium intake, selenium metabolism, or other factors related to selenium are responsible for the relations observed. At present, the available data do not justify selenium supplementation programs in the whole population.

Apolipoprotein A-I

Hyperlipidemia in school children with family histories of premature coronary heart disease.

Children starting their schooling were given a questionnaire asking about the occurrence of premature (before 50 years of age in men, 55 years in women) coronary heart disease (CHD) in first degree relatives. 1,920 of 2,069 questionnaires were answered, 140 of the 7-year-old children were reported to have a first degree relative with premature CHD, 84 of these 140 families agreed to participate in our study. In 79 of the 84 families both the child and the parent at 'high risk' were tested. In the initial test 19 of 84 children had total cholesterol (TC) levels above the 95th percentile (greater than 5.35 mmol/l). In the repeat test 12 of the 19 TC tests remained abnormal and all 12 also had LDL-cholesterol (LDL-C) levels above the 95th percentile (greater than 3.40 mmol/l). None had abnormal HDL-cholesterol or triglyceride levels. Among the high risk parents, 12 of 79 had abnormal initial blood lipid tests. In the repeat test 10 parents had both TC and LDL-C levels above the 95th percentile. In five families both the child and the parent had abnormal TC and LDL-C levels. In conclusion, a considerable proportion of children and parents with family histories of premature CHD have TC and LDL-C concentrations above the 95th percentile (in the present study, about 40 individuals in 140 high-risk families, if the parent and child considered at high risk all had agreed to participate). Prevention of heart disease should begin in childhood when patterns of life-style are developed. Identification by obtained family histories as in the current study may be a method of choice.

Child

Post-transfusion hepatitis type non-A, non-B in southern Sweden: occurrence and clinical significance.

Two prospective studies of the occurrence and clinical significance of post-transfusion hepatitis non-A, non-B were performed in Malmö, Sweden. In both studies, patients of a broad clinical spectrum were followed up 6 and 12 weeks after transfusion. In a 7 week study from 1983, hepatitis non-A, non-B occurred in 9/173 transfused patients (5.2%) versus 1/203 untransfused controls (0.5%) (p less than 0.01). In a 6 month study from 1984-85, the incidence of hepatitis non-A, non-B had declined to 2.4% (18/739 transfused patients). The mean number of transfused units was about 5 in both studies and most patients had subclinical disease. Despite similar transfusion volumes to patients above or below 70 years of age, hepatitis non-A, non-B was predominantly seen among patients less than 70 years. In the 1984-85 study, hepatitis non-A, non-B incidence was 1.2% in recipients greater than or equal to 70 years, 3.4% in recipients less than 70 years and 4.5% in recipients less than 40 years. One year after the initial hepatitis non-A, non-B episode, 4/18 patients (22%) had biochemical signs of chronic hepatitis.

Age Factors

Hospital nutrition in geriatric long-term care medicine. I. Effects of a changed meal environment.

Sixteen patients, five males and 11 females, (mean age 80.4 years, range 65-88 years) were studied before, during and after a changed meal environment in a long-term care ward. The dining-room was redecorated in a way similar to what was common during the 1940s. The food was served by the staff on serving-dishes, and the patients could help themselves. A 1-day dietary record was made once a week during the whole study. During the pre-experimental period the average daily intake of energy was 5.8 MJ/1379 kcal and the intake of vitamin D only 2.8 micrograms. During the experimental period the intake of energy and protein increased by 25% (p less than 0.001). No significant changes in body weight occurred which might reflect an increased physical activity. Among the blood chemistry variables blood folate, serum creatinine and retinol showed a significant increase during the experimental period. The changes in retinol might reflect a substitution of a marginal vitamin A deficiency. During the postexperimental period the decrease of serum creatinine was correlated to a decreased protein intake. The intake of energy, protein, vitamin D and thiamine decreased during the last period.

Aged