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Biomedical subjects

G R Sutherland

Publications and source records attributed to G R Sutherland.

At least 523 records · Page 29Linked to original sources
PubMed1985

Genetic linkage analysis of epidermolysis bullosa dystrophica, Cockayne-Touraine type.

Genetic linkage relationships between 27 informative marker loci and the locus for epidermolysis bullosa dystrophica, Cockayne-Touraine type (EBD-CT), were examined in a single large kindred. Linkage could not be demonstrated to any of the marker loci, further adding to the exclusion map for EBD-CT. The dominant forms of EBD so far delineated by clinical criteria and electron microscopy remain genetically undefined in terms of loci and allelism. Further investigation will be undertaken using restriction fragment length polymorphisms mapped to regions outside the existing exclusion map.

Adolescent↗
PubMed1985

Paracentric inversions in man.

Two new cases of familial paracentric inversions, 46,XY,inv(3)(p21.1p25) and 46,XY,inv(7) (q22.3q36.1) are presented. A review of published cases suggests that prenatal diagnosis for carriers of paracentric inversions is not warranted. However, care must be exercised in eliminating the possibility of insertions.

Abnormalities, Multiple↗
PubMed1985

A case of ring 20 chromosome with cardiac and renal anomalies.

A case of ring 20 chromosome is reported. In contrast to the few children documented previously with this problem who had no significant malformations the present case had major malformations of the heart and urinary tract as well as mental retardation and seizures.

Child, Preschool↗
PubMed1985

Heritable fragile sites on human chromosomes. XII. Population cytogenetics.

Chromosome studies to detect the folate sensitive fragile sites have been carried out on 2439 randomly selected neonates. Four autosomal fragile sites were detected in this group. Similar studies were carried out on referred patients, special school students and sheltered workshop employees. The incidence of fragile X in these groups was 6/1936, 13/502 and 0/128 respectively. Autosomal folate sensitive fragile sites were seen in 14/1936, 5/502 and 2/128 individuals respectively.

Adolescent↗
PubMed1985

Relationships between radiological and biochemical evidence of rickets in Asian schoolchildren.

One hundred Asian schoolchildren provided evidence of the relationships between radiological and biochemical evidence of rickets in a vitamin D-deficient population. In a retrospective study of the X-rays of 56 children the variables serum alkaline phosphatase, inorganic phosphorus and age provided a discriminant function which correctly classified 10 of 11 children with radiological evidence of rickets and 44 of 45 children with negative or marginally abnormal X-rays. When the discriminant function was applied to a prospective study of 44 children, three children with radiological evidence of rickets were correctly classified together with 38 of the remaining 41 children with negative or marginally abnormal X-rays. Serum alkaline phosphatase was the most important variable in the discriminant analysis, followed by serum inorganic phosphorus and age. Low levels of serum 25-hydroxy vitamin D (25-OHD) are of little value in predicting the severity of radiological evidence of rachitic bone disease in a vitamin D-deficient population.

Adolescent↗
PubMed1985

Blunt traumatic myocardial injury.

This article reviews the cardiac sequelae of blunt chest injury. Major cardiac injuries of blunt chest trauma involve damage to the myocardium, although pericardial disease, valvular heart disease, and coronary artery disease may result. Recognition of the various syndromes associated is discussed, and a synthesis of diagnostic and management strategies for speculation is provided.

Contusions↗
PubMed1984

Genetic linkage analysis of epidermolysis bullosa simplex, Köbner type.

Genetic linkage relationships between a range of marker loci and the locus for epidermolysis bullosa simplex (EBS), Köbner type, were examined in a single kindred. A positive lod score of 1.2 at theta = 0.2 was found for Fy. To test the clinical observation that Köbner and Weber-Cockayne types may be the same disease determined by different alleles, published lod scores from definite Weber-Cockayne families were added to those from this study. A lod score of 1.8 was found at theta = 0.2. This value falls to 1.5 at theta = 0.2 when all families other than Ogna type are included. The Köbner variant studied is not closely linked to GPT and is therefore distinct from EBS1 (Ogna type). Linkage analysis is consistent with an hypothesis that Köbner and Weber-Cockayne types are determined by a single locus; however, further evidence is needed before this locus can be designated EBS2 and assigned to chromosome 1.

Chromosome Fragility↗
PubMed1984

Fragile sites and cancer breakpoints.

To determine whether there might be a statistically significant association between fragile sites and cancer breakpoints, we examined the locations of the 21 fragile sites and the 50 cancer breakpoints recently accepted by the Seventh Human Gene Mapping Workshop. Nine of the 21 fragile sites appeared to be located at or near a cancer breakpoint. The chi-square test for association gives a value of 15.8 (p less than 0.001) indicating that there is a very highly significant statistical association between human fragile sites and cancer breakpoints. This association is not narrowly limited to one class of fragile site, such as those sensitive to folate or to one type of cancer, but appears to extend to leukemia, lymphoma, and solid cancer. To more fully understand the meaning of this intriguing association between fragile sites and cancer breakpoints, future research will need to locate additional fragile sites and cancer breakpoints with precision, record their concurrence in individuals and families, determine if fragile site families are predisposed to cancer, and prove that a fragile site and a cancer breakpoint that appear to be coincident are at the same point on the DNA level.

Chromosome Fragile Sites↗
PubMed1984

Detection of the fragile X chromosome and other fragile sites.

To assist in cell sample size selection and detect the fragile X chromosome, statistical tables have been presented. A comparable approach had been suggested earlier for the diagnosis of chromosome mosaicism. The cytologic detection of the fragile X or any fragile site is simply a special case in the detection of mosaicism. Minimum numbers of metaphases are recommended for fragile X analysis to have 95% confidence that the fragile X is not manifest in a given proportion of cells and similar recommendations apply to all other fragile sites.

Cell Count↗
PubMed1984

Heritable fragile sites on human chromosomes. XI. Factors affecting expression of fragile sites at 10q25, 16q22, and 17p12.

The fragile sites at 10q25, 16q22, and 17p12 can all be induced in lymphocyte culture by BrdU or BrdC added 6-12 hrs prior to harvest. Without induction, fra(10)(q25) is rarely expressed spontaneously, whereas fra(16)(q22) is frequently expressed spontaneously. Fra(17)(p12) is frequently expressed spontaneously but is probably expressed only after induction in some individuals. Distamycin A, netropsin, and Hoechst 33258 induced high levels of expression of fra(16)(q22) and fra(17)(p12) but did not enhance expression of fra(10)(q25). The mechanisms of induction of fra(16)(q22) by BrdU and distamycin A appear to be different, since the time of induction by BrdU reaches a maximum about 12 hrs prior to harvest whereas induction by distamycin A requires much longer exposure. The fragile sites at 10q25 and 16q22 were both induced in fibroblast culture by BrdU. Fra(17)(p12) is accepted as a fragile site because preliminary studies show that it behaves similarly in lymphocyte culture to fra(16)(q22); however, there is only limited evidence for fragility at 17p12.

Bisbenzimidazole↗
PubMed1983

Frequency of myocardial injury after blunt chest trauma as evaluated by radionuclide angiography.

Seventy-seven patients who had sustained multisystem trauma, including severe blunt chest injury, were prospectively evaluated to assess the frequency of associated traumatic myocardial injury. Traumatic injury to either the right or left ventricle was defined by the presence of discrete abnormalities of wall motion on electrocardiographically gated cardiac scintigraphy in patients without a clinical history of heart disease. Forty-two patients (55%) (Group 1) had focal abnormalities of wall motion; 27 involved the right ventricle, 7 the left ventricle, 7 were biventricular, and 1 involved only the septum. Both the right and left ventricular ejection fractions were significantly (p less than 0.01) lower (31 +/- 11% and 47 +/- 14%, respectively) than those in the 35 traumatized patients without wall motion abnormalities on scintigraphy (Group 2) (49 +/- 8% and 58 +/- 11%, respectively). Repeat scintigraphic examination in 32 Group 1 patients at a time remote from initial injury showed improvement or resolution of previously defined focal wall motion abnormalities in 27 of 32 patients (84%). The electrocardiogram and serum enzyme tests were insensitive indexes of traumatic myocardial injury when defined by the scintigraphic abnormalities. Thus, severe blunt chest trauma results in a higher frequency of traumatic myocardial injury than heretofore recognized, and frequently involves the anteriorly situated right ventricle.

Adolescent↗
PubMed1983

Fragile sites in chromosomes: possible model for the study of spontaneous chromosome breakage.

The tissue culture condition that is required for the type of chromosome breakage seen at most fragile sites, namely, the absence of folic acid and thymidine in the medium, greatly enhanced micronucleus formation in proliferating lymphocyte cultures from normal individuals. This suggests that chromosome breakage at fragile sites and the apparently spontaneous damage that gives rise to micronuclei are controlled by the same mechanism.

Adolescent↗