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Biomedical subjects

G R Sutherland

Publications and source records attributed to G R Sutherland.

At least 541 records · Page 30Linked to original sources
PubMed1983

A search for linkage in families with fragile sites.

Linkage relationships to unassigned and provisionally assigned genetic markers were examined from 53 families segregating for various fragile sites. Fragile sites were at Xq27, 2q13, 6p23, 9p21, 9p32, 10q23, 10q25, 11q13, 11q23, 12q13 and 16p12. No new assignments were made but extensive exclusion data are presented for the markers F13A, F13B, CHE2, K, TF, GPT, C3 and Lu arising from linkage comparisons with fragile sites and other genetic markers. Exclusions of at least 10 cM involving fragile site markers were made for F13A (6p23, 9q32, 10q25), F13B (10q23, 10q25, 16p12), CHE2 (16p12), K (10q23), TF (10q23, 10q25, 11q13), GPT (10q23, 10q25, 11q13), C3 (10q23, 10q25) and Lu (10q25, 11q13).

Chromosome Banding↗
PubMed1983

A new allele of alpha 1-antitrypsin: PI NADELAIDE.

The allele PI NADELAIDE (PI NADE) was named in accord with nomenclature guidelines and specifies a new co-dominant variant of alpha 1AT. Discovery was achieved by IEF and the isoelectric point of NADE is between N and NHAM. Familial inheritance of PI NADE was demonstrated and both PI M2NADE and PI M3NADE phenotypes were observed. The mobility of PI NADE is identical to PI M by both starch and agarose electrophoresis. PI NADE apparently confers normal alpha 1AT serum concentrations and is probably unrelated to disease.

Alleles↗
PubMed1983

Why are radiologists in the UK not using computers in their departments?

The value of administrative support computers in radiology departments has been evident, particularly in the United States, for more than a decade. It is difficult to understand why so little interest appears to have developed in this country; it is, perhaps, our inherent conservatism. The advent of the inexpensive microprocessor with a wide range of program packages has set the scene for an expansion of the use of computing in a wide range of clerical tasks. This article sets out to describe the various applications which we have demonstrated to be particularly suitable for incorporation into a computer system and suggests a number of additional applications which may be appropriate to particular radiology departments.

Computers↗
PubMed1983

Lithium toxicity in a neonate.

Severe transplacental lithium toxicity in a neonate is described. There were gross functional lesions of the cardiovascular, renal, and neuromuscular systems with no structural abnormalities. At 1 year of age cardiovascular and renal function is normal, but there is developmental delay.

Bipolar Disorder↗
PubMed1983

Anatomical basis of cross sectional echocardiography.

Ten hearts were cut in planes to simulate echocardiographic cuts which may be taken to visualise the anatomy of the cardiac chambers and great arteries. The various myocardial wall segments were named from these sections by referring to their position in the reconstituted heart. The sections were studied in their correct anatomical position. In this way they provide a reference for appropriate orientation of echocardiographic images.

Echocardiography↗
PubMed1983

Cytogenetic studies: an essential part of the paediatric necropsy.

Chromosome studies were attempted on 97% of necropsies carried out in the Department of Histopathology of the Adelaide Children's Hospital over the four-year period ending May 1981. Results were obtained from 89% of necropsies of which 7.5% had major chromosome abnormalities. The chromosome results are analysed according to the category of the necropsy and to primary cause of death. It is recommended that cytogenetic studies be performed on all stillbirths and infants dying at less than 28 days of age except in cases of isolated CNS malformation, sudden infant death syndrome (SIDS), trauma, or known single gene defects.

Abortion, Spontaneous↗
PubMed1983

Thymidylate synthetase inhibitors and fragile site expression in lymphocytes.

The ability of three thymidylate synthetase inhibitors, fluorodeoxyuridine, fluorodeoxycytidine, and trifluorothymidine, to induce the expression of eight different folate-sensitive fragile sites has been investigated in 22 patients and compared with the efficacy of simple folate deprivation for inducing fragile site expression. Fluorodeoxyuridine and fluorodeoxycytidine were equal in their ability to elicit fragile site expression but fluorodeoxycytidine proved less cytotoxic under comparable culture conditions. Both fluorodeoxyuridine and fluorodeoxycytidine were found to be more efficient than trifluorothymidine at comparable concentrations but less efficient than simple folate deprivation in eliciting fragile site expression in lymphocytes. Since the three inhibitors induced expression of eight different folate-sensitive fragile sites, it is likely that all folate-sensitive fragile sites have a common underlying mechanism of expression. The practical application of thymidylate synthetase inhibitors in the routine detection of heritable fragile sites is discussed.

Adolescent↗
PubMed1983

Protease inhibitor (PI) phenotype of individuals with chromosomal fragile sites.

One hundred and four fragile sites were ascertained from 95 unrelated families. In each family the ancestry of the fragile site was traced as far as possible and the PI phenotype of the carrier in the earliest generation determined. Mildly deficient PI phenotypes were more prevalent than expected among earliest carriers of folate sensitive fragile sites, but not for BrdU dependent fragile sites. The significance of this finding is unclear and is based upon relatively small numbers. Another series of fragile site carriers would need to be studied and similar results found before the question of any relationship between PI phenotype and mutagenesis to fragile sites could be raised.

Chromosome Fragile Sites↗
PubMed1983

Regional localization for HLA by recombination with a fragile site at 6p23.

A family with a fragile site on chromosome 6 at band p23 was examined for recombination between the fragile site and HLA. Recombination was observed in four of the 20 offspring in whom it could occur. The estimate of the genetic length of chromosome between the fragile site and HLA is 20 centimorgans (cM) with a lower 95% probability limit of 8.5 cM, placing HLA proximal to the midpoint of 6p22. The most likely regional localization is at 6p21.3, which agrees closely with methods that do not involve recombination with the fragile site. This fragile site does not measurably disrupt recombination frequency, and the allele predisposing to expression of the fragile site is situated at the fragile site.

Chromosome Fragile Sites↗
PubMed1982

Genetic length of a human chromosomal segment measured by recombination between two fragile sites.

Two families were studied in which the same homolog of chromosome pair 10 expressed both the fragile sites on the long (q) arm at 10q23 and 10q25. Recombination between the fragile sites was observed in 3 of the 27 offspring in whom it could occur. The genetic length of chromosome between the fragile sites was 11 female centimorgans within a 95 percent probability interval of 4 to 28 centimorgans. This estimate of genetic length is comparable to those obtained with other methods.

Chromosome Banding↗
PubMed1982

Sister-chromatid exchange (SCE) analysis in mothers exposed to DNA-damaging agents and their newborn infants.

The incidence of SCE in the lymphocytes of mothers and their newborn infants was determined. A detailed antenatal history of parental habits such as smoking, alcohol consumption and possible exposure to DNA-damaging agents was documented. The results showed that the SCE rate in the newborn is significantly less than that of their mothers. Mothers who consumed alcohol, but not cigarette smokers, had a significantly increased SCE rate compared to control mothers. However, these maternal habits did not affect the SCE rate of their infants. Neonates with neural tube defects showed a significantly increased SCE rate compared to normal babies.

Abnormalities, Multiple↗
PubMed1982

Ventricular septal defects. Two dimensional echocardiographic and morphological correlations.

To evaluate the ability of two dimensional echocardiography to identify and classify ventricular septal defects, 280 infants and children with clinically significant ventricular septal defects were studied. Multiple precordial and subcostal echocardiographic planes were scanned in each patient in an attempt to identify the defects. Defects visualised were classified on the basis of the structures which formed their margins. Subsequent correlation of this information with angiographic (280 patients), surgical (130 patients), and pathological (31 patients) data confirmed that defects in the following sites produced a specific two dimensional echocardiographic pattern. (a) Perimembranous inlet, (b) perimembranous outlet, (c) muscular inlet, (d) single trabecular, (e) muscular outlet, and (f) doubly committed subarterial. A defect was identified and correctly classified in 252 patients. Individual defects were identified with varying degrees of accuracy. All subarterial (24 patients) defects were correctly identified and classified, as were muscular defects of the inlet (18 patients) and outlet (six patients) septa. Of the 185 perimembranous defects, 182 were identified. Only 23 of the 43 single trabecular defects were identified. Small multiple ("Swiss cheese") defects (four patients) were not identified. We conclude that two dimensional echocardiography provides a reliable non-invasive method of identifying and classifying the following ventricular septal defects: (a) perimembranous defects, (b) doubly committed subarterial defects, and (c) muscular defects of the inlet and outlet septa. In our experience it fails consistently to visualise defects in the trabecular septum.

Adolescent↗
PubMed1982

Cross-sectional echocardiographic assessment of conditions with atrioventricular valve leaflets attached to the atrial septum at the same level.

Ninety two patients with both atrioventricular valves attached to the atrial septum, roofing a perimembranous inlet ventricular septal defect, were assessed by cross-sectional echocardiography. In the group, 42 had an isolated perimembranous inlet ventricular septal defect, 31 had atrioventricular discordance, nine an atrioventricular septal defect with intact interatrial septum, and 10 a straddling atrioventricular valve. In all but those with an atrioventricular septal defect the left atrioventricular valve had the appearance of a morphologically mitral valve. In the former lesion the atrioventricular junction was "sprung" and a cleft between the anterior and posterior bridging leaflets was identified in all. A straddling valve was identified by tensor apparatus from one atrioventricular valve in both ventricular chambers. Atrioventricular discordance was diagnosed by identifying the systemic and pulmonary venous atria and then assessing the morphology of the draining atrioventricular valves. Thus, with cross-sectional echocardiography, the constellation of abnormalities that give rise to lack of offsetting of the atrioventricular valves can be reliably identified.

Echocardiography↗
PubMed1982

Platelet interaction within giant intracranial aneurysms.

Turbulence within intracranial aneurysms may result in tearing of the aneurysmal wall, exposing the subendothelial matrix to circulating platelets. In this study, platelet interaction in giant intracranial aneurysms was evaluated by a dual-isotope technique employing In-labeled platelets and Tc-labeled red blood cells. The use of two isotopes allows the subtraction of the blood pool and the calculation of the ratio indium deposited:indium blood pool (In(D)/In(BP)). A ratio greater than zero indicates platelet deposition within aneurysm. Thirteen patients were evaluated in this way, with platelet deposition demonstrated in six. In these six patients, the ratio In(D)/In(BP) was found to be significantly elevated, with a mean value of 0.96 +/- 0.65. Three of these six patients has symptoms of recurrent transient neurological deficits; one of these three suffered a complete stroke following documentation of platelet deposition. In this case, the aneurysm was obtained at surgery and was found to contain intraluminal platelet aggregation when viewed by scanning electron microscopy. In the remaining seven patients, the ratio IN(D)/In(BP) was found not to be significantly elevated (mean -0.03 &/- 0.06), indicating the absence of active platelet deposition. Two of these patients had prior symptoms of cerebral ischemia; one of these was found to have an ulcer in the ipsilateral internal carotid artery which was probably responsible for thromboembolic events to the hemisphere. The authors conclude that platelet aggregation occurs more frequently than previously recognized in giant intracranial aneurysms, and their data substantiate the hypothesis that platelet metabolic products or thrombi originating from a large aneurysm may embolize to distal cerebral vessels.

Adult↗