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Biomedical subjects

L Pressley

Publications and source records attributed to L Pressley.

At least 19 recordsLinked to original sources
PubMed2006

Raised troponin T and echocardiographic abnormalities after prolonged strenuous exercise--the Australian Ironman Triathlon.

BACKGROUND: There is concern about whether cardiac damage occurs as a result of prolonged strenuous exercise. OBJECTIVE: To investigate whether competing in a triathlon is associated with cardiac damage based on a sustained increase in cardiac troponin T (cTnT), and whether such an increase correlates with echocardiographic changes METHODS: cTnT and echocardiographic measurements were made in 38 participants in the 2001 Australian ironman triathlon. cTnT was measured the day before, immediately after, and the day following the race. Echocardiography was done the day before, immediately after, and two to six weeks later for measurement of ejection fraction, stroke volume, cardiac output, wall motion analysis, and global left ventricular function (LVF). RESULTS: No subject had detectable cTnT in the pre-race sample. Following the race, 32 subjects (86.5%) had detectable levels of cTnT (>0.01 ng/ml), with six (16.2%) having >0.10 ng/ml. The day after the race, nine subjects (23.7%) still had detectable cTnT, with two recording a level >0.10 ng/ml. Previously described echocardiographic changes of "cardiac fatigue" were observed in the whole cohort. There was a modest but significant correlation between change in ejection fraction and peak cTnT level (p = 0.02, r = 0.39). Athletes with a post-race cTnT >0.10 ng/ml had a greater decrease in global LVF (p = 0.02) and a trend toward a greater fall in ejection fraction and stroke volume than athletes with cTnT levels <0.10 ng/ml. Cardiac output fell in the group with cTnT >0.10 ng/ml (p>0.05). CONCLUSIONS: Participation in ironman triathlon often resulted in persistently raised cTnT levels, and the troponin rise was associated with echocardiographic evidence of abnormal left ventricular function. The clinical significance and long term sequelae of such damage remains to be determined.

Adult↗
PubMed1996

Multiple coronary-pulmonary fistulae involving all three coronary arteries: a case report.

Coronary pulmonary fistulae are rare cardiac anomalies. We present the case of a 46-year-old woman with multiple coronary-pulmonary fistulae involving all three coronary arteries. She presented with atypical chest pain and had no obstructive coronary lesion. SPECT thallium study demonstrated no perfusion defect. The fistulae were multiple but small with only a small left to right shunt (Qp:Qs = 1.2). The patient has remained well without intervention.

Arterio-Arterial Fistula↗
PubMed1993

The natural history of aortic dilatation in Marfan syndrome.

OBJECTIVES: To determine the relationship between age and aortic dilatation in patients with Marfan syndrome and to define the rate of progression of aortic dilatation in these patients. DESIGN: All patients were evaluated in a multidisciplinary clinic to establish a firm diagnosis of Marfan syndrome. Aortic dimensions were measured by echocardiography and patients with Marfan syndrome were followed up with annual physical and echocardiographic examinations to detect any change in aortic diameter over the subsequent four years. PATIENTS: One hundred and fifty-seven patients were referred to the clinic for assessment, of whom 40 exhibited diagnostic features of Marfan syndrome. Only 24 of these patients had previously been diagnosed with Marfan syndrome, while 17 other patients, previously diagnosed with Marfan syndrome, had insufficient clinical features to justify the diagnosis. RESULTS: Among the 40 patients (19 male, 21 female) with Marfan syndrome (mean age, 28 +/- 15 years), the prevalence of cardiovascular abnormalities was 90%. Aortic root dilatation was present in 78% of patients, aortic regurgitation in 28%, mitral valve prolapse in 65% and mitral regurgitation in 35%. Mean aortic root diameter in the Marfan patients (21.4 +/- 4.0 mm/m2 body surface area) markedly exceeded that of age and sex matched controls without Marfan syndrome (14.9 +/- 2.2 mm/m2) and that of first-degree relatives without Marfan syndrome (15.3 +/- 2.9 mm/m2). The occurrence of aortic dilatation in Marfan syndrome was variable, with patients as young as 20 years exhibiting severe dilatation. All patients with Marfan syndrome exhibiting aortic dilatation were advised to take beta-adrenergic blocking drugs, unless contraindicated, in an effort to retard the rate of aortic dilatation. Among 33 patients followed up for at least one year, 14 (42%) exhibited an increase in aortic diameter of at least 2 mm, while 16 of 23 patients (70%) followed up for at least three years exhibited similar progression of aortic dilatation. The overall mean rate of dilatation in the Marfan patients was 1.9 mm per year. Nine patients developed aortic dilatation of more than 50 mm diameter during four years' follow-up and required surgical repair of the aorta. Each of these patients is well at between three months' and four years' follow-up. CONCLUSIONS: Aneurysmal dilatation of the aorta is a common complication of Marfan syndrome and may become manifest at an early age. Furthermore, aortic dilatation can progress rapidly, even in the absence of symptoms. Individuals with Marfan syndrome should have annual echocardiographic examinations to monitor aortic root dimensions, and those exhibiting rapid progression of aortic dilatation or an aortic root diameter in excess of 50 mm, should be considered for elective composite graft repair of the aorta.

Adolescent↗
PubMed1988

The polyadenylation site mutation in the alpha-globin gene cluster.

In a previous study, we described a form of nondeletion alpha-thalassemia (alpha T Saudi alpha) found in subjects of Saudi Arabian origin. In the current study, using synthetic oligoprobe hybridization and restriction enzyme analysis, we have demonstrated that the molecular basis of alpha T Saudi alpha is due solely to a single base mutation (AATAAA----AATAAG) in the polyadenylation signal of the alpha 2 gene and that the frameshift mutation in codon 14 of the linked alpha 1 gene is the result of a cloning artefact. The alpha 2 polyadenylation signal mutation occurs in other Middle Eastern and the Mediterranean populations and is responsible for the clinical phenotype of Hb H disease in some Saudi Arabian individuals with five alpha genes (alpha T Saudi alpha/(alpha alpha alpha)T Saudi). Evidence suggests that the (alpha alpha alpha)T Saudi haplotype has arisen as a result of a recombination between two misaligned chromosomes bearing the alpha T Saudi alpha defect.

Alleles↗
PubMed1982

alpha-globin gene deletions associated with Hb J Tongariki.

Three identical alpha + thalassemia genes, one of which always carried the Hb J Tongariki mutation, have been observed in Vanuatuans. Despite the fact that at least two of them have arisen by different types of crossover event, the expression of all three haplotypes is identical.

Chromosome Deletion↗
PubMed1981

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

Each of three families of northern European origin contains a mentally retarded son with hemoglobin H (Hb H) disease. One parent is a carrier of mild alpha-thalassemia and the other is normal, suggesting that this form of Hb H disease results from the interaction between an inherited defect of alpha-chain production and one member of the pair in chromosome 16 and a new mutation on the other. Restriction-enzyme analysis indicated that the new mutation was not the same in the other three patients, and demonstrated at least two hitherto undescribed lesions involving the alpha-globin gene cluster. Unless the association between the Hb H disease and mental retardation is fortuitous, the new mutations may also be related to the development changes in these children. Since the mutations only came to light because there was concurrent inheritance of an additional alpha-thalassemia determinant, this type of mutation of chromosome 16 may have been overlooked in other mentally retarded patients.

Adult↗
PubMed1981

Molecular basis for mild forms of homozygous beta-thalassaemia.

Five Cypriots homozygous for beta +-thalassaemia have inherited deletion or non-deletion forms of alpha-thalassaemia that seem to have modified the usually severe clinical picture to that of mild thalassaemia intermedia. These observations have important implications for the antenatal diagnosis of beta-thalassaemia.

Adolescent↗
PubMed1981

Genetic and molecular diversity in nondeletion Hb H disease.

Restriction endonuclease mapping of nondeletion alpha-thalassemia determinants from a variety of racial groups showed no detectable abnormalities within a 40-kilobase region of the zeta-alpha globin gene cluster. By using a zeta-specific probe, we defined three different types of interactions that give rise to Hb H disease, each involving a nondeletion alpha-thalassemia haplotype. mRNA analysis showed further diversity within these groups, indicating that there are at least three nondeletion determinations.

Chromosome Deletion↗
PubMed1981

The genetics and molecular basis of alpha thalassaemia in association with Hb S in Jamaican Negroes.

We have studied seven Jamaican Negro families in whom the genes for alpha thalassaemia and the sickle cell mutation (betas) were independently segregated. Using a combination of techniques we identified two alpha thalassaemia phenotypes which resemble the severe (alpha thalassaemia 1) and mild (alpha thalassaemia 2) determinants previously described in Orientals. This study has enabled us to clearly correlate the phenotype of alpha thalassaemia with the genotype in this population. Furthermore, since in each family alpha thalassaemia was present in association with the gene for the sickle cell mutation we have determined the proportion of Hb S in the peripheral blood of individuals with the alpha alpha/alpha alpha, -alpha/alpha alpha and -alpha/-alpha genotype who are also heterozygous for the betas mutation. Genetic analysis in these families shows that in each case subjects with the alpha thalassaemia 1 phenotype are homozygous for the alpha thalassaemia 2 defect (-alpha/-alpha). We have found no instances of the genotype --/alpha alpha in this population which may explain the rarity of the severe alpha thalassaemia syndromes in Jamaica. Restriction mapping data in the alpha thalassaemia 2 homozygotes from this population shows that the (-alpha/) haplotype results from a deletion of one of the linked pair of alpha globin genes and that this has probably arisen by an unequal crossover between non-homologous alpha genes.

Black People↗
PubMed1980

A new genetic basis for hemoglobin-H disease.

We studied 11 families with alpha-thalassemia from the Qatif population of eastern Saudi Arabia to determine the genetic and molecular basis of hemoglobin-H disease, which is being encountered in this area with increasing frequency. The results show that there are two common alpha-thalassemia haplotypes, a deletion (-alpha/) determinant and a nondeletion (alpha alpha T/) determinant, which interact to produce a series of overlapping phenotypes. The most severe, hemoglobin-H disease, results from the homozygous state for the nondeletion determinant--a pattern of inheritance not previously recognized for this condition. Its molecular and genetic properties are thus different from those that produce the condition in Oriental or Mediterranean populations.

Child↗
PubMed1980

Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex.

A new deletion causing alpha thalassemia has been characterised in a Greek family. Detailed mapping of the alpha gene complex shows that the deletion extends for 5.2 kb and removes the whole of the alpha 2 gene and the 5' end of the alpha 1 gene. The affected chromosome, therefore produces no normal alpha chains and results in a phenotype of alpha thalassemia 1.

Chromosome Deletion↗
PubMed1980

Haemoglobin Bart's hydrops syndrome in Greece.

A case of haemoglobin Bart's hydrops syndrome was characterised in a Greek family with a history of three other fetuses with hydrops. Family studies showed that both the mother and father carried alpha-thalassaemia genes, and globin-chain synthesis analysis of the present fetus showed a total absence of alpha-chain production. The haemoglobin composition of the fetus was similar to that seen in cases in south-east Asia, and analysis of DNA from the Greek case confirmed the total deletion of the alpha-chain genes. The extent of the deletion, however, differed from that seen in south-east Asian cases and included the loss of one of the embryonic zeta-chain genes. Thus the severe form of alpha-thalassaemia occurs in Greece but has arisen independently from the similar condition in south-east Asia. The condition must be considered in any woman of this racial background who gives a history of unexplained stillbirths.

Adult↗