Search PubMed⌕ Search

Biomedical subjects

F Bonnici

Publications and source records attributed to F Bonnici.

At least 37 records · Page 2Linked to original sources
PubMed1983

Making the change to U-100 insulins. A patient education guide.

This article is designed as educational material for insulin-dependent diabetics and is intended to help them and their doctors make the change to U-100 insulins without difficuulty. The aim of the transfer is to reduce potentially dangerous confusion and dosage errors which have resuited from the current availability of multiple strengths of insulins and types of syringes.

Humans↗
PubMed1983

Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology.

A hypobetalipoproteinaemic kindred is described in which the proband manifested the clinical and biochemical features of the homozygous state. Unlike the apparent complete absence of apolipoprotein B in the plasma of the five cases of homozygous hypobetalipoproteinaemia reported so far, we were able to demonstrate minute quantities of this protein (approximately 0.025% of normal) in the plasma of the proband. This finding suggests that the disorder may not result from a structural gene defect but may rather reflect a failure of secretion.

Apolipoproteins↗
PubMed1982

Chylomicron and very-low-density lipoprotein levels in type I hyperlipoproteinaemia. The role of the liver in determining biochemical phenotype.

Patients with type 1 hyperlipoproteinaemia present with relatively normal plasma levels of very-low-density lipoprotein (VLDL) together with marked hyperchylomicronaemia. Since the aetiological basis for the type 1 phenotype is a severe reduction in peripheral lipoprotein lipase (LPL) activity, the discrepancy between the two triglyceride-rich lipoprotein fractions is paradoxical. In order to account for these observations we have previously proposed (G.M.B) that the hepatic secretion of lipoproteins in these patients is characterized by the production of chylomicron-like particles rather than VLDL. The implications of this hypothesis were examined in 3 patients with type 1 hyperlipoproteinaemia. A high-carbohydrate diet led to the enhancement of hyperchylomicronaemia in 2 of the 3 subjects. The severity of the defect in peripheral LPL activity correlated with the tendency to hyperchylomicronaemia, and in vitro assay suggested that hepatic lipase was capable of hydrolysing chylomicron triglyceride when present at the high concentrations characteristic of type 1 hyperlipoproteinaemia. These results were compatible with the above hypothesis implicating the liver as a partial determinant of the type 1 phenotype.

Adolescent↗
PubMed1982

Nephrocalcinosis in children.

Nephrocalcinosis is an uncommon condition is childhood. The commonest cause is renal tubular acidosis, although this may not manifest itself radiographically until adolescence. Recognizing the calcification as either cortical, medullary or mixed is not always possible, but may sometimes be an aid to differentiate metabolic from vascular causes.

Acidosis, Renal Tubular↗
PubMed1980

Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report.

An infant with hypotonia, gross cardiomegaly and heart failure is described. Angiocardiography revealed a hypertrophic restrictive cardiomyopathy. The diagnosis of type II glycogenosis was confirmed by the total absence of alpha-1,4-glucosidase in cultured skin fibroblasts. It is now possible to offer prenatal diagnosis by amniocentesis to women at risk of having affected children.

Clinical Enzyme Tests↗
PubMed1978

[The value of potassium phosphate supplements in the treatment of diabetic ketoacidosis. Effects upon 2.3-diphosphoglycerate and tissue oxygenation (author's transl)].

Amongst 8 diabetics with severe ketoacidosis and treated identically, 4 received intravenous supplements of potassium phosphate (25 mmol PO4/I) for 24 hours. This resulted in blood 2.3-diphosphoglycerate and in vivo P50 levels which were invariably higher than in the control subjects and a fall in lactate/pyruvate ratio. These results reflect improved tissue oxygenation.

Adolescent↗
PubMed1978

Continuous flow plasma exchange in the treatment of homozygous familial hypercholesterolemia.

We report the clinical and laboratory effects of continuous-flow plasma exchange in two patients suffering from homozygous familial hypercholesterolemia. In one (Case 1) plasmapheresis was performed at fortnightly intervals over a period of 18 months; in the other (Case 2) the necessity for surgical relief of an associated supravalvular aortic stenosis resulted in premature termination of the trial. The plasma cholesterol levels in both patients fell by 35 per cent from the mean before study in the course of treatment. In Case 1 this was associated with marked regression of the patient's xanthomas, disappearance of the S-T segment depression seen on effort electrocardiograms obtained prior to the introduction of plasmapheresis, possible widening of the stenosis present at the origin of the left anterior descending coronary artery, and a marked increase in exercise tolerance and diminished frequency of anginal attacks. Cessation of cholestyramine and clofibrate administration during this study did not in any way reverse the reduction of plasma cholesterol achieved by means of plasmapheresis combined with drug therapy. We conclude that plasmapheresis has a role to play in the management of patients with homozygous familial hypercholesterolemia.

Adolescent↗
PubMed1977

Familial hyperchylomicronaemia in four families. Problems in diagnosis, management, and aetiology reviewed.

We report on the clinical and biochemical findings of 8 patients with familial hyperchylomicronaemia (type I hyperlipoproteinaemia) from 4 separate kindreds. The diagnosis is generally easily established by the presence, in standing plasma, of a creamy chylomicron layer over a clear infranatant and by the large predominance of triglycerides over cholesterol in the plasma. Additional aids are the presence of chylomicrons on lipoprotein electrophoresis and the markedly reduced liberation of lipolytic activity into the plasma of these patients, after the administration of heparin. Difficulties in diagnosis may arise in patients on reduced fat diets, resulting in an increase of very low density lipoproteins and a type IV or V phenotype. The precise nature of the primary genetic defect remains to be established but the disorder appears to be aetiologically distinct from type IV or V hyperlipoproteinaemia. Reduction of chylomicron, and hence of triglyceride values in the plasma, is wholly dietary.

Adolescent↗
PubMed1977

Pure oestrogen-secreting feminizing adrenocortical adenoma.

A 6-year-old boy presented with gynaecomastia. There was no clinical or biochemical evidence of excessive androgenic or glucorticoid activity, but urinary oestrogen levels were raised. An adrenocortical adenoma, demonstrated by x-ray, was surgically removed. Oestrogen levels fell immediately. 3 years later the boy shows complete regression of the gynaecomastia and no signs of recurrence.

Adenoma↗
PubMed1976

Portacaval shunt in two patients with homozygous type II hyperlipoproteinaemia.

We report the clinical and biochemical course of 2 patients who underwent portacaval shunting for the relief of homozygous type II hyperlipoproteinaemia. In our first patient, the initial favourable clinical and biochemical response subsequently deteriorated and a splenoportogram revealed the presence of a blocked splenic vein with a large collateral blood supply to the liver. The second patient has responded quite dramatically; there has been relief of her preoperative anginal attacks and a significant fall in her plasma cholesterol concentration. The present role of portacaval shunts in the management of this conditions is discussed.

Child, Preschool↗