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Biomedical subjects

G R Sutherland

Publications and source records attributed to G R Sutherland.

At least 19 recordsLinked to original sources
PubMed2005

Feasibility of strain and strain rate imaging for the assessment of regional left atrial deformation: a study in normal subjects.

AIMS: There are no data on the use of Myocardial Velocity Imaging (MVI) to study the left atrium (LA) wall deformation. The aims of this study were to assess the feasibility of measuring regional longitudinal strain/strain rate (epsilon/SR) profiles in the LA wall, to define the normal values and to validate these measurements. METHODS AND RESULTS: MVI data were recorded in 40 healthy young individuals using a GE Vivid7 for the lateral, anterior and inferior LA walls. The peak epsilon/SR values and total epsilon values during the contractile, reservoir and conduit LA phases were measured. For the LA lateral wall, the total epsilon values were correlated with the LA volumetric indicators (LA active emptying fraction: LA AEF; LA expansion index: LA EI; and LA passive emptying fraction: LA PEF). The correlations were significant for all three periods: contractile (total epsilon vs. LA AEF, r=-0.78, P<0.001), reservoir (total epsilon vs. LA EI, r=0.43, P<0.01) and conduit (total epsilon vs. LA PEF, r=-0.46, P<0.005). CONCLUSION: SR/epsilon imaging for the quantification of longitudinal myocardial LA deformation was shown to be feasible and the normal values were reported and validated. These data may improve the understanding of the LA pathophysiology.

Adolescent↗
PubMed2005

New aspects of the ventricular septum and its function: an echocardiographic study.

OBJECTIVES: To examine whether the line dividing the septum into two layers is found consistently by conventional echocardiography and to evaluate functional differences in the right and left side of the septum in terms of wall thickening, strain rate, and strain imaging. DESIGN: In a systematic study in 30 normal subjects, M mode and Doppler myocardial imaging data from the interventricular septum (IVS) were recorded. Velocity curves, regional strain rate, and strain profiles were obtained. Systolic deformation (wall thickening, radial and longitudinal strain rate, and strain) of both sides were assessed. Furthermore, three patients with one sided abnormalities were studied. RESULTS: A bright echo consistently segmented the IVS into a left and right part. In this normal population radial deformation was different for the left and right side of the septum (mean (SD) wall thickening on the left, 49 (46)%, and on the right, 17 (38)%; strain rate on the left, 3.8 (0.6) 1/s, and on the right, 2.1 (1.9) 1/s; strain on the left, 41 (17)%, and on the right, 22 (14)%), whereas longitudinal deformation was found to be similar (strain rate on the left, -2.2 (0.7) 1/s, and on the right, -2.0 (0.6) 1/s; strain on the left, -28 (12)%, and on the right, -25 (12)%). The presented clinical examples show that abnormalities can be strictly limited to one layer. CONCLUSIONS: Differential radial deformation and knowledge of fibre architecture showing an abrupt change in the middle of the septum, together with the clinical cases, suggest the septum to be a morphologically and functionally bilayered structure potentially supplied by different coronary arteries.

Adolescent↗
PubMed2005

Frequency of truly cryptic subtelomere abnormalities--a study of 534 patients and literature review.

Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature review. Unbalanced subtelomere chromosome rearrangements are a significant cause of mental retardation with approximately 5% of over 3000 affected individuals tested worldwide having a chromosome rearrangement of this type. Many of these abnormalities are detectable using routine karyotyping at the 550 band level and therefore are not considered to be cryptic. The frequency of truly cryptic subtelomere abnormality should be less than 5% but has not been established. In this study, we defined 'cryptic abnormality' as one not detectable at the 550 band level on routine karyotyping. Using this as one of the selection criteria, we have studied 534 individuals with mental retardation/ developmental delay (MR/DD) and referred for subtelomere study by clinical geneticists. We have identified seven cases with cryptic subtelomere abnormalities. The clinical features of the seven abnormal cases are summarized. Literature review identified five publications on the identification of subtelomere abnormalities which used similar recruitment criteria: (a) normal karyotype at the 550 band level and (b) subjects were selected for subtelomere studies. Combining the data from these studies with those of the current study, 1154 patients were tested and 30 subtelomere abnormalities were identified. We estimate the frequency of truly cryptic subtelomere abnormality to be approximately 2.6% (30/1154) in children with MR/DD who are referred for subtelomere study.

Abnormalities, Multiple↗
PubMed2004

Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene?

BACKGROUND/AIMS: Two half-brothers with similar malformed genitals, who both inherited a maternally derived t(X;5)(q13;p15) translocation, have a phenotype consistent with partial androgen sensitivity syndrome. The aim was to identify the gene disrupted by the X chromosome breakpoint. METHODS: The breakpoint was localized using fluorescence in situ hybridization to metaphase spreads of the translocation. RESULTS: The breakpoint on the X chromosome of the X;5 translocation was localized to a 30-kb region. This region does not contain any identified genes or transcripts. However, the breakpoint is approximately 134 kb from the 5' end of the androgen receptor (AR) gene. CONCLUSIONS: Genetic defects of the AR gene are collectively called androgen insensitivity syndrome and include a range of phenotypes from normal males, often with associated sterility, to XY females. The phenotype seen in the males with the t(X;5) is consistent with this syndrome. The analysis of the chromosomal abnormality suggests that this translocation may remove one or more upstream regulatory elements of the AR gene that are essential for its normal expression and its role in typical external masculinization.

Androgen-Insensitivity Syndrome↗
PubMed2004

Quantifying myocardial deformation throughout the cardiac cycle: a comparison of ultrasound strain rate, grey-scale M-mode and magnetic resonance imaging.

Strain rate imaging (SRI) is a new ultrasound (US) approach to the quantification of regional myocardial deformation. It previously has been validated in vitro and in vivo against other imaging techniques. However, in all such studies, only peak strain values were compared, and the temporal evolution of the strain curve was not studied. Yet, it is the temporal evolution of the strain curves that contains the more important clinical information (e.g., asynchrony, viability, etc). Thus, the aim of this study was to compare the evolution of strain during the complete cardiac cycle as measured by US SRI, US grey-scale M-mode and magnetic resonance imaging (MRI). In 10 healthy volunteers and 20 patients with chronic ischaemic heart disease, radial deformation of the inferolateral segment of the left ventricle was measured by US SRI, US M-mode and MRI. The correspondence of the temporal characteristics of these strain curves were compared by defining an intraclass correlation coefficient (ICC). In healthy volunteers, an overall good agreement (mean ICC: 0.75 and 0.63 for systole and diastole) was found between the different methods. However, in patients with abnormal segmental deformation and low peak strain values, the agreement was less (mean ICC: 0.42 and 0.32), but remained within acceptable limits for clinical decision making. Myocardial deformation measurements using SRI correlated well with MRI and US M-mode measurements throughout the complete cardiac cycle.

Coronary Stenosis↗
PubMed2003

Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring.

The authors report 1-year prospective data on eight patients with Friedreich ataxia. Idebenone did not halt the progression of ataxia. At the end of therapy, cardiac ultrasound demonstrated significant reduction of cardiac hypertrophy in six of eight patients. Cardiac strain and strain rate imaging showed that the reduction of hypertrophy is preceded by an early and linear improvement in cardiac function. Idebenone reduced erythrocyte protoporphyrin IX levels in five of six patients with elevated baseline levels; however, changes did not consistently relate to cardiac improvement.

Adolescent↗
PubMed2003

Intraoperative MR at 1.5 Tesla--experience and future directions.

The objective of this report is to present and contrast the development of the different intraoperative MR systems that are currently in use. The manuscript focuses on the design and clinical experience of a 1.5 Tesla MR system, based on a movable magnet. This configuration is similar to the operating microscope and other surgical adjuncts, with MR technology moved to and from the patient as needed. The system has been used to monitor 294 neurosurgical procedures. including CNS neoplasia. epilepsy, cervical spine disorders, arteriovenous malformations, cavernomas and aneurysms. In many cases the surgical procedure was significantly altered by intraoperatively acquired MRI. Future developments include the construction of a 3 Tesla intraoperative MR system and an ambidextrous MR-compatible robot. This seamless integration of robotic technology into an intraoperative MR environment may well revolutionize neurosurgery.

Adolescent↗
PubMed2003

Non-invasive diagnosis of coronary artery disease by quantitative stress echocardiography: optimal diagnostic models using off-line tissue Doppler in the MYDISE study.

AIMS: To develop optimal methods for the objective non-invasive diagnosis of coronary artery disease, using myocardial Doppler velocities during dobutamine stress echocardiography. METHODS AND RESULTS: We acquired tissue Doppler digital data during dobutamine stress in 289 subjects, and measured myocardial responses by off-line analysis of 11 left ventricular segments. Diagnostic criteria developed by comparing 92 normal subjects with 48 patients with coronary disease were refined in a prospective series of 149 patients referred with chest pain. Optimal diagnostic accuracy was achieved by logistic regression models, using systolic velocities at maximal stress in 7 myocardial segments, adjusting for independent correlations directly with heart rate and inversely with age and female gender (all p<0.001). Best cut-points from receiver-operator curves diagnosed left anterior descending, circumflex and right coronary disease with sensitivities and specificities of 80% and 80%, 91% and 80%, and 93% and 82%, respectively. All models performed better than velocity cut-offs alone (p<0.001). CONCLUSION: Non-invasive diagnosis of coronary artery disease by quantitative stress echocardiography is best performed using diagnostic models based on segmental velocities at peak stress and adjusting for heart rate, and gender or age.

Adult↗
PubMed2003

The potential value of ultrasonic deformation measurement in differentiating regional ischaemic substrates during dobutamine stress echocardiography.

The differentiation between differing regional ischaemic substrates is crucial for decision-making in patients with coronary artery disease. This study demonstrates that quantification of dobutamine stress echocardiography using ultrasonic strain measurement has the potential to identify three differing regional ischaemic substrates (ischaemic, stunned and scarred) in the same patient. The data were validated by traditional analysis of dobutamine stress echo, coronary angiography and correlative quantitative positron emission tomography information.

Coronary Angiography↗
PubMed2003

The feasibility of ultrasonic regional strain and strain rate imaging in quantifying dobutamine stress echocardiography.

BACKGROUND: Ultrasonic strain rate and strain can characterize regional one-dimensional myocardial deformation at rest. In theory, these deformation indices could be used to quantify normal or abnormal regional function during a dobutamine stress echo test. AIMS: The aims of our pilot study were threefold: (1) to determine the percentage of segments in which interpretable strain rate/strain data could be obtained during routine dobutamine stress echo, (2) to establish whether either the increase in heart rate or artefacts induced by respiration during dobutamine stress echo would influence analysis by degrading the data and (3) to determine the optimal frame rate vs image sector angle settings for data acquisition. Furthermore, although the detection of ischaemia was not to be addressed specifically in this study, we would describe the findings on the potential clinical role of regional deformation vs velocity imaging in detecting ischaemia-induced changes. METHODS: A standard dobutamine stress echo protocol was performed in 20 consecutive patients with a history of chest pain (16 with angiographic coronary artery disease and four with normal coronary angiograms). DMI velocities were acquired at baseline, low dose, peak dose, and recovery. To evaluate radial function (basal segment of the left ventricle posterior wall segment), parasternal LAX, SAX views were used. For long axis function data were acquired (4-CH, 2-CH views) from the septum; lateral, inferior and anterior left ventricle walls. Data was acquired using both 15 degrees (>150 frames per second (fps) and 45 degrees (115fps) sector angles. During post-processing each wall was divided into three segments: basal, mid and apical. Strain rate/strain values were averaged over three consecutive heart cycles. RESULTS: Data was obtained from 1936 segments, of which only 54 had to be excluded from subsequent analysis (2.8%) because of suboptimal quality. An increase in heart rates (up to 150/min) was not associated with a significant reduction in the number of interpretable segments. There was a significant correlation between maximal systolic strain rate/strain values obtained at narrow and at wide sector angles (e.g. a correlation for the septal segments: r=0.73,P <0.001 for strain rate, and r=0.71; P<0.001 for strain). The correlation for the timing of events obtained from narrow and wide sector angles was weaker. This would indicate that there was the insufficient temporal resolution for the latter acquisition method. Normal and abnormal regional strain rate/strain responses to an incremental dobutamine infusion were defined. In normal segments, maximal systolic strain rate values increased continuously from baseline, reaching the highest values at the peak dose of dobutamine. The segmental strain response was different. For strain, there was an initial slight increase at low dose of dobutamine (5, 10 microg/kg/min), but no further increase with increasing dose. A pattern representing an ischaemic response was identified and described. CONCLUSIONS: The feasibility study would suggest that with appropriate data collection and post-processing methodologies, strain rate/strain imaging can be applied to the quantification of dobutamine stress echo. However, appropriate post-processing algorithms must be introduced to reduce data analysis time in order to make this a practical clinical technique.

Adult↗
PubMed2003

Rare fragile sites.

Rare folate-sensitive fragile sites are the archetypal trinucleotide repeats. Although the CAG repeat in the androgen receptor, associated with spinobulbar muscular atrophy, was the first to be published in 1991, it was the publication in the same year of the molecular basis of fragile X that focused much attention on trinucleotide repeat expansion as a mutational mechanism. A number of rare fragile sites have had their repeat elements characterised since that time. The so-called "folate-sensitive" fragile sites are likely to be all CCG repeat expansions similar to the fragile X. The folate insensitive fragile sites have more complex longer repeat elements. Only two rare fragile sites (FRAXA and FRAXE) are of unequivocal clinical significance in that they are associated with intellectual disability.

Chromosome Fragile Sites↗
PubMed2003

Forgotten fragile sites and related phenomena.

Fragile sites have been recognised since 1965. Extensive molecular characterisation of them has occurred in the last decade. Yet there are a number of interesting phenomena relating to fragile sites and similar lesions on chromosomes that have not been subject to recent published research. The aim of this short review is to stimulate interest in some of these aspects of fragile sites in the hope that a more complete picture of their nature and properties will emerge.

Antimetabolites, Antineoplastic↗
PubMed2002

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

Generalized epilepsy with febrile seizures plus (GEFS(+)) is an important childhood genetic epilepsy syndrome with heterogeneous phenotypes, including febrile seizures (FS) and generalized epilepsies of variable severity. Forty unrelated GEFS(+) and FS patients were screened for mutations in the sodium channel beta-subunits SCN1B and SCN2B, and the second GEFS(+) family with an SCN1B mutation is described here. The family had 19 affected individuals: 16 with typical GEFS(+) phenotypes and three with other epilepsy phenotypes. Site-specific mutation within SCN1B remains a rare cause of GEFS(+), and the authors found no evidence to implicate SCN2B in this syndrome.

Amino Acid Substitution↗
PubMed2002

A familial cryptic subtelomeric deletion 12p with variable phenotypic effect.

A 15-year-old-boy and his mother, both carrying a cryptic deletion within 12p13.33, are described. The proband has a mild phenotype with moderate mental retardation and severe behavioural problems. The mother had some learning difficulties at school. Conventional GTL-banded high-resolution chromosome analysis showed normal karyotypes. Subsequent analysis by fluorescence in situ hybridization using a set of probes specific for the subtelomeric regions of all chromosomes, plus a series of probes at 12p13.33 extending from the 12p telomere, showed that both mother and son carry a 1.65 Mb terminal deletion in this region. There are 10 predicted genes within the deleted region. The unanticipated familial nature of the deletion emphasizes the value of family studies in all cases with subtelomeric abnormalities. It also demonstrates the difficulty in making a clinical diagnosis of individuals with this deletion. To the best of the present authors' knowledge, the proband and his mother are the first patients described with a submicroscopic deletion at 12p13.33.

Abnormalities, Multiple↗
PubMed2001

Quantitation of localized abnormal deformation in asymmetric nonobstructive hypertrophic cardiomyopathy: a velocity, strain rate, and strain Doppler myocardial imaging study.

We report a case of a 10-year-old child with nonobstructive hypertrophic cardiomyopathy in whom two-dimensional echocardiography showed asymmetric septal hypertrophy with a localized thickening in the mid-septal segment. Systolic regional longitudinal motion and deformation indices were quantified by the new ultrasound-based parameters velocity, strain rate, and strain. Regional longitudinal myocardial function indices were normal for the basal and apical septal segments. The deformation parameters strain rate and strain (not the regional velocity profile) were abnormal only in the hypertrophied mid-septal segment with myofibril disarray. The concepts and advantages and clinical implications behind this quantitative approach to localizing and quantifying areas of abnormal deformation related to such myocardial disarray in localized hypertrophy are discussed.

Biomechanical Phenomena↗
PubMed2001

Delta9 -tetrahydrocannabinol increases brain temperature and inverts circadian rhythms.

Delta9-tetrahydrocannabinol (THC) has been shown to protect against focal and global ischemia. Hypothermia is thought to be one mechanism for this protection. These observations are important since brain hyperthermia is known to increase ischemic damage while hypothermia is protective. To establish the effect of THC on brain and body core temperature, brain and body temperature probes were inserted for chronic temperature monitoring (n = 20). THC treated groups were administered THC at either low (0.1 mg/kg) or high (10 mg/kg) dose for 1 week. Brain temperature was recorded during this period and for 1 week following the discontinuation of THC. Chronic administration of THC at either dose increased brain temperature (p < 0.0001) but did not significantly change body core temperature (p = 0.4767) in the freely moving rat.

Animals↗