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Biomedical subjects

J Fernandes

Publications and source records attributed to J Fernandes.

At least 73 records · Page 4Linked to original sources
PubMed1985

The serum apolipoprotein profile of patients with glucose-6-phosphatase deficiency.

Abnormal lipid transport is one of the more severe pathophysiological manifestations of glucose-6-phosphatase deficiency (glycogen storage disease, type I: GSD-I). To characterize further lipoprotein abnormalities in this inborn error of glycogen metabolism, we determined the levels of serum apolipoproteins (Apo) A-I, A-II, B, C-I, C-II, C-III, D, and E in 10 male and 12 female patients, 1-37 yr of age. Results showed that patients with GSD-I have a unique apolipoprotein profile characterized by normal or slightly decreased levels of ApoA-I and ApoA-II, reduced concentrations of ApoD, and significantly increased levels of ApoC-I and ApoC-II (p less than 0.01) and ApoB, ApoC-III, and ApoE (p less than 0.0001) in comparison with age- and sex-matched normolipidemic controls. However, there was some overlap of values in patients and controls for each of the lipid and apolipoprotein constituents with the exception of ApoC-III. This finding supported by the results of the logistic regression analysis showed that the concentration of ApoC-III is the best criterion for distinguishing patients with GSD-I from control subjects and the most characteristic feature of the deranged lipid transport system in this deficiency disease. It remains to be clarified, however, whether the ApoC-III concentrations in patients with GSD-I reflect the degree of other metabolic and clinical manifestations of this disease such as hyperlacticacidemia, hyperuricemia, and growth retardation.

Adolescent↗
PubMed1985

Sulphated lithocholic acid conjugates in serum from children with hepatic and intestinal diseases.

Sulphated lithocholic acid conjugates (SGLC) were measured in the sera of 268 children with various hepatic and intestinal disorders. Two groups were distinguished: (I) SGLC concentration less than or equal to 1.2 mumol/l, n = 198, and (II) SGLC concentration greater than 1.2 mumol/l, n = 70. In 28 patients of the latter group the SGLC concentration was less than 25% of the concentration of glycocholic acid (GC) in the same serum sample. This group (IIA) consisted predominantly of patients with cholestasis, as characterized by high serum bile acid levels and deviating liver function tests. The rest of the group (IIB), with SGLC levels exceeding 25% of the GC concentration and relatively low serum bile acid concentrations, showed no clear cholestatic symptoms. A postprandial increase in serum SGLC (delta SGLC) greater than 1.0 mumol/l was found in only 1 of 32 patients of group I (3%), in 1 of 6 patients of group IIA (17%), but in 9 of 11 patients of group IIB (81%). delta SGLC did not correlate with delta GC in the same test, which indicated that a general hepatic bile acid clearance defect was not responsible. In two patients with intermittent cholestasis, the distinct postprandial rise in serum SGLC that was always found during anicteric periods could be prevented by adding cholestyramine to the test meal. We conclude that elevated serum concentrations of SGLC develop during the course of cholestasis but may also be caused by influx of this bile acid from the intestine. Because of its hepatotoxic properties, SGLC may be involved in the initiation or perpetuation of specific cholestatic phenomena.

Adolescent↗
PubMed1984

Selenium status of infants on nutritional support.

We investigated the selenium status of 5 infants while on nutritional support. After 4 weeks of parenteral nutrition a significant fall in plasma selenium concentrations was observed (mean +/- SD: 0.8 +/- 0.5 micrograms/dl; normal for this age: 3.6 +/- 0.9 micrograms/dl). In 1 infant the decline in selenium value occurred simultaneously with a transient rise in transaminases. A parallel but delayed decrease in red blood cell-glutathione peroxidase activity was seen in 3 patients. After reintroduction of enteral foods, the selenium levels increased progressively to and reached control values after 6 weeks, 4 and 5 months respectively in 3 patients, suggesting that the selenium requirement on TPN was not met. We consider it essential to provide longterm TPN patients with physiological amounts of selenium in order to prevent the progressive development of a deficiency state.

Erythrocytes↗
PubMed1984

Incomplete intestinal absorption of fructose.

Intestinal D-fructose absorption in 31 children was investigated using measurements of breath hydrogen. Twenty five children had no abdominal symptoms and six had functional bowel disorders. After ingestion of fructose (2 g/kg bodyweight), 22 children (71%) showed a breath hydrogen increase of more than 10 ppm over basal values, indicating incomplete absorption: the increase averaged 53 ppm, range 12 to 250 ppm. Four of these children experienced abdominal symptoms. Three of the six children with bowel disorders showed incomplete absorption. Seven children were tested again with an equal amount of glucose, and in three of them also of galactose, added to the fructose. The mean maximum breath hydrogen increases were 5 and 10 ppm, respectively, compared with 103 ppm after fructose alone. In one boy several tests were performed with various sugars; fructose was the only sugar incompletely absorbed, and the effect of glucose on fructose absorption was shown to be dependent on the amount added. It is concluded that children have a limited absorptive capacity for fructose. We speculate that the enhancing effect of glucose and galactose on fructose absorption may be due to activation of the fructose carrier. Apple juice in particular contains fructose in excess of glucose and could lead to abdominal symptoms in susceptible children.

Adolescent↗
PubMed1984

Lactate as a cerebral metabolic fuel for glucose-6-phosphatase deficient children.

The main substrates for brain energy metabolism were measured in blood samples taken from the carotid artery and the internal jugular bulb of four children with glycogen storage disease caused by deficiency of glucose-6-phosphatase. Multiple paired arterial and venous blood samples were analyzed for glucose, lactate, pyruvate, D-beta-hydroxybutyrate, acetoacetate, glycerol and O2, and the arteriovenous differences of the concentrations were calculated. In the first three patients the substrates were measured in two successive conditions with lower and higher glucose-intake, respectively, inducing reciprocally higher and lower concentrations of blood lactate. In the fourth patient medium chain triglycerides were administered simultaneously with the glucose-containing gastric drip feeding. Lactate appeared to be taken up significantly. It consumed, if completely oxidized, between 40-50% of the total O2 uptake in most cases. Only once in one patient the uptake of lactate switched to its release, when the blood lactate level decreased to normal. D-beta-hydroxybutyrate and acetoacetate arteriovenous (A-V) differences were small to negligible and these ketone bodies, therefore, did not contribute substantially to the brain's energy expenditure. Glycerol was not metabolized by the brain. Lactate thus appeared to be the second brain fuel next to glucose. It may protect the brain against fuel depletion in case of hypoglycemia.

Brain↗
PubMed1984

The dietary treatment of children with type I glycogen storage disease with slow release carbohydrate.

The effect of ingestion of uncooked cornstarch (2 g/kg body weight) in water, uncooked starch (1 g/kg) added to a meal, and glucose (2 g/kg) in water, was studied in eight patients with type IA glycogen storage disease (GSD) and one patient with type IB GSD. Blood glucose concentrations were determined at 30-min intervals during each tolerance test; blood lactate, blood insulin, and expiratory hydrogen were determined at 60-min intervals. The glucose levels remained in the normal range (greater than or equal to 1.8 mM) during approximately 6.5-9.0 h, 3.5-6.5 h, and 2.25-4.0 h during the three tolerance tests, respectively. The lactate levels differed markedly for the different tests per patient, and for the same type of test between the patients. Blood insulin concentrations after starch administration did not exceed values of 50 mU/liter above fasting levels and were markedly lower than those after glucose administration (maximum levels of 280 mU/liter). The expiratory hydrogen excretion did not increase or only slightly increased after cornstarch administration (less than 20 ppm).

Adolescent↗
PubMed1984

Carbohydrate malabsorption in children with severe protein energy malnutrition.

To determine the incidence of carbohydrate malabsorption, particularly lactose malabsorption in Basotho children with severe PEM during treatment with a dry skim milk (DSM)-sucrose-oil mixture, 105 children with PEM were submitted to a Hydrogen Breath Test (HBT) after administration of the mixture. Carbohydrate malabsorption occurred more frequently in children with kwashiorkor (28/58) than in those with marasmus (5/33), marasmic kwashiorkor (3/15) and healthy controls (8/34). The positive HBT appeared to be due to lactose malabsorption in at least two thirds of the children with kwashiorkor as it turned negative when the challenge was repeated with a lactosefree mixture. In controls malabsorption of carbohydrate (usually lactose) appeared at the age of 22 months, nearly a year later than in PEM. Diarrhoea occurred in 23 children with PEM and particularly in those with carbohydrate malabsorption. In 20 children Giardia was found in the stools without any observable effect on carbohydrate malabsorption, however. The findings support the cautious use of physiological doses of lactose in the treatment of severe PEM.

Animals↗
PubMed1983

The effects of colestipol hydrochloride on serum lipoprotein lipid and apolipoprotein B and A-I concentrations in children heterozygous for familial hypercholesterolemia.

The effects of colestipol hydrochloride on serum lipoprotein lipid and apolipoprotein B and A-I concentrations in children heterozygous for familial hypercholesterolemia. Acta Paediatr Scand, 72:81, 1983.--Colestipol hydrochloride was administered to 28 children with familial hypercholesterolemia type II-A, and its effects on serum lipoproteins were tested against a placebo in a cross-over design. All children consumed a diet low in cholesterol and high in linoleic acid. Colestipol therapy resulted in a 15.7% decrease in serum very low plus low density lipoproteins and in a 13.5% decrease in serum apolipoprotein B. High density lipoprotein cholesterol, serum apolipoprotein A-I and serum triglycerides remained unaltered.

Adolescent↗
PubMed1983

[Hypoglycemia].

Explore the source record for details and available documents.

Child↗
PubMed1982

Trace metals in cystic fibrosis.

Serum zinc and copper concentration, 24 hrs urinary zinc and copper excretion, plasma selenium and red blood cell glutathione peroxidase activity were measured in 13 cystic fibrosis patients aged 6 to 15 years. The mean serum zinc value +/- S.D. (17.3 mumol/l +/- 4.6) did not differ from that of the control group (17.9 mumol/l +/- 3.1). Urinary zinc excretion in 12 out of 13 patients was within the normal range (1.53-13.8 mumol/24 hrs). The mean serum copper +/- S.D. (23.8 mumol/l +/- 4.2) was not significantly elevated as compared to the value found in the control group (19.2 mumol/l +/- 3.5), but 4 children, including 1 with documented portal hypertension, showed an urinary copper excretion greater than 0.94 mumol/24 hrs (normal: 0.16-0.80 mumol/24 hrs). Mean plasma selenium +/- S.D. (0.84 mumol/l +/- 0.25) was significantly reduced as compared to the control group (1.0 mumol/l +/- 0.15) (p less than 0.05). The correlation between selenium concentration and RBC glutathione peroxidase activity was significant (p less than 0.01). A negative correlation was also found between plasma selenium and 24 hrs faecal fat excretion (p less than 0.05). It is concluded that CF children with severe dysfunction of the exocrine pancreas are at increased risk to develop symptoms of subclinical or manifest zinc and/or selenium deficiency. Appropriate supplementation should therefore systematically be considered.

Adolescent↗
PubMed1981

Interval breath hydrogen test in glucose-galactose malabsorption.

A simple test is described for the diagnosis of monosaccharide malabsorption in infancy caused by a congenital defect of glucose and galactose transport. Increased hydrogen (H2) excretion in expired air after ingestion of sugar was used to diagnose this condition in an infant with severe diarrhoea after breast feeding. Abnormal amounts of H2 were excreted after oral administration of glucose and galactose, but not after fructose. A carbohydrate free diet supplemented with fructose resulted in rapid weight gain and disappearance of diarrhoea. The diagnosis of glucose-galactose malabsorption was confirmed by 14C-glucose transport studies on a jejunal mucosal biopsy specimen. These findings indicate that interval breath H2 estimation in mixed expired air is a non-invasive, reliable procedure for detection of monosaccharide malabsorption in infancy.

Air↗
PubMed1981

Left ventricular function in end-stage renal disease: echocardiographic classification.

We used echocardiography (ECHO) to detect pericardial effusions and assess left ventricular (LV) function in 39 patients with end-stage renal disease (ESRD). Pericardial effusions were present in 24 patients (62%). Thirty-one patients (79%) had concentric hypertrophy and 20 patients (51%) had decreased LV compliance. The majority of patients with concentric hypertrophy and decreased LV compliance had normal LV internal dimensions and contractility. Six patients (15%) had ECHO results compatible with congestive cardiomyopathy. An echocardiographic distinction between congestive heart failure, decreased LV compliance, and salt and water overload in ESRD has allowed an appropriate therapeutic decision as to whether to administer cardiac glycosides or increase ultrafiltration as a treatment for pulmonary congestion. ECHO is a safe, convenient, and noninvasive method of assessing serial LV function, and it can be used to document progressive deterioration of LV function in ESRD.

Adolescent↗
PubMed1981

The effect of a virtually cholesterol-free, high-linoleic-acid vegetarian diet on serum lipoproteins of children with familial hypercholesterolemia (type II-A).

The effect of a virtually cholesterol-free, high-linoleic-acid vegetarian diet and a high-linoleic-acid "normal" diet with a moderate cholesterol content was tested in 39 children heterozygote for hypercholesterolemia type II-A. The diets were administered in an outpatient cross-over design of two periods of 10 weeks each and the serum lipoproteins were analyzed at the end of the two 10-week periods. The vegetarian diet induced a decrease in serum concentrations of LDL-II total and free cholesterol and of apo-B, by an average of 10%, whereas HDL cholesterol and apo-A-I decreased by 4%. The disproportionately large change in LDL compared to the small change in HDL was interpreted as an antiatherogenic effect of the vegetarian diet.

Adolescent↗