Comparative usefulness of cardiac imaging methods: the increasing role of cardiac ultrasound.
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Color↗
Biomedical subjects
G R Sutherland
Publications and source records attributed to G R Sutherland.
Epidemiology of primary intracranial neoplasms in Manitoba, Canada.
The incidence of primary intracranial tumors in Manitoba, Canada was reviewed. From 1980 through 1985, 657 tumors were diagnosed. The crude incidence rates were 10.2/100,000 for males and 10.8/100,000 for females. The three most common tumors were: astrocytoma 281 (43%), meningioma 145 (22%), and pituitary adenoma 111 (17%). Average annual incidence rates for all tumors showed a bimodal distribution with one peak in the 0-4 age group (4.2/100,000), and the other in the 60-69 age group (27.2/100,000). For malignant astrocytoma, the age-specific annual incidence rate increased to the seventh decade where it reached a peak of 14.3/100,000. The incidence of benign astrocytoma remained relatively constant with age at 1.1/100,000. The annual incidence of meningioma increased with age up to the eighth decade reaching 7.2/100,000. Of the 145 meningiomas, 56 (39%) were meningotheliomatous, 48 (33%) transitional, 10 (7%) malignant, 7 (5%) fibroblastic, 6 (4%) psammomatous, 3 (2%) angioblastic, and 15 (10%) lacked pathologic diagnosis. The annual incidence of pituitary adenoma showed two peaks, the first occurring in the third decade (2.6/100,000) and the second in the eighth decade (3.2/100,000). Although the incidence of meningioma was relatively high, the clinical features and pathologic patterns of these tumors were not unlike those previously reported in the literature.
Adolescent↗
Rapid karyotyping of neonates on the basis of data from cord blood.
A method is described for karyotyping neonates on the basis of data from cord blood--by means of direct examination of dividing cells--that yields results within a few hours of birth. This method obviates the need for bone-marrow aspiration when chromosome studies are required urgently.
Fetal Blood↗
Hemodynamic adaptation to acute myocardial contusion complicating blunt chest injury.
The immediate hemodynamic sequelae of blunt chest injury complicated by acute myocardial contusion were examined in multiply traumatized patients. Focal defects of ventricular wall motion defined by gated cardiac scintigraphy identified acute myocardial contusion in 28 of 43 patients, involving the right ventricle alone in 18 (group 1A), the left ventricle in 4 (group 1B) and both ventricles in 6 (group 1C). Qualitatively normal ventricular wall motion was found in the 15 patients (group 2). Although there was no difference between groups 1A and 2 in mean systemic oxygen transport (620 +/- 189 vs 627 +/- 105 ml/min/m2), left ventricular ejection fraction (52 +/- 14% vs 60 +/- 9%) or calculated left ventricular end-diastolic and end-diastolic and end-systolic volumes, mean right ventricular (RV) ejection fraction was significantly lower in group 1A (29 +/- 9%) than in group 2 (47 +/- 7%, p less than 0.01). Concomitantly, evidence of RV systolic dysfunction was ml/m2) but not in group 2 (RV end-systolic volume, 50 +/- 21 ml/m2, p less than 0.05). RV stroke work was similar between the groups, and RV pump function was identical by virtue of a larger RV preload in group 1A (RV end-diastolic volume 143 +/- 63 ml/m2) than in group 2 (RV end-diastolic volume 93 +/- 26 ml/m2, p less than 0.05). Thus, use of the RV Frank-Starling mechanism in patients with traumatic RV contusion maintains RV pump function at a level similar to that in traumatized patients without acute myocardial contusion.
Adaptation, Physiological↗
Segregation analysis of rare autosomal fragile sites.
Segregation analyses were performed on pedigrees with rare autosomal fragile sites. The results of the analysis of pedigrees with folate sensitive fragile sites, including 2q1, 6p23, 7p11, 8q22, 9q32, 10q23, 11q13, 11q23, 12q13, 16p12, and 20p11, suggested that expression of the gene depended on the carrier parent: it was only 50% penetrant when transmitted by a carrier father, but fully penetrant when transmitted by a carrier mother. Pedigrees with the bromodeoxyuridine (BrdU) fragile site, fra(10)(q25), showed the same trend but the results were not statistically significant. In addition, 38 of the 44 probands with folate sensitive or BrdU-sensitive fragile sites received the gene from their carrier mother and only six received it from their father. In contrast, the analysis of pedigrees with the distamycin A-inducible site, fra(16)(q22), gave the results expected for a simple codominant trait with complete penetrance. Probands with this fragile site received the gene equally from mothers or fathers. The genetic implications of these results are discussed.
Bromodeoxyuridine↗
Partial trisomy 3p syndrome.
Two cousins with an unbalanced chromosome translocation (partial trisomy 3p) are described. Both children have a clinically recognizable syndrome of square facies with prominent cheeks, narrow bitemporal regions, psychomotor retardation and congenital heart disease. Extended family studies showed one other individual proven to have partial trisomy 3p karyotype, two retarded individuals with congenital heart disease who probably had it, and 14 balanced carriers of the translocation t(1;3)(q43;p21). This report confirms the characteristic clinical appearance of affected individuals and emphasizes the frequency in which congenital heart disease is the presenting feature of partial trisomy 3p. An additional 22 cases of partial 3p trisomy are reviewed.
Chromosomes, Human, Pair 3↗
Normal female carrier and affected male half-sibs with t(X;5)(q13;p15). Location of a gene determining male genital development.
A unique family in which half-brothers have a maternally derived t(X;5)(q13;p15) and similar genital malformations is described. This family provides evidence for a gene required for male genital development located at Xq13.
Chromosome Mapping↗
Guidelines for the diagnosis of fragile X.
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Chromosome Banding↗
Intravenous and oral amiodarone for arrhythmias in children.
Oral amiodarone was administered to 30 children (aged one week to 14 years) for treatment of resistant or life threatening tachycardias. Five children received initial intravenous medication. The mean duration of oral treatment ranged from two weeks to 64 months (mean 23 months). Infants required a higher oral dose than older children when this was calculated on the basis of body weight but not when it was calculated on the basis of body surface area, indicating that the prescribed dose of amiodarone for infants should be calculated on the basis of body surface area. Although plasma concentrations of amiodarone were similar in infants and children, the plasma concentration of the metabolite desethylamiodarone was lower in infants. The arrhythmias were effectively controlled, by amiodarone alone in 19 and by amiodarone in combination with other drugs in nine children; amiodarone was ineffective in the remaining two children. Unwanted effects were common but were not significantly related to the dose, duration of treatment, or plasma concentration of amiodarone when group results were analysed. Grey facial skin pigmentation developed in two patients who received high cumulative doses of amiodarone and in whom plasma concentrations of amiodarone were high. Four children with biochemical hepatic dysfunction had high plasma concentrations of amiodarone and a further four children who experienced sleep disturbance had required high doses of amiodarone.
Administration, Oral↗
Localization of the human haptoglobin genes distal to the fragile site at 16q22 using in situ hybridization.
The distamycin A-sensitive fragile site fra(16)(q22) is a precisely localized chromosomal marker. When expressed at metaphase, it visibly separates the chromosome material on either side of the fragile site. Using a cDNA probe encoding both the alpha and beta haptoglobin chains, the haptoglobin loci were found by in situ hybridization to be distal to fra(16)(q22).
Chromosome Fragile Sites↗
A new location for the human adenine phosphoribosyltransferase gene (APRT) distal to the haptoglobin (HP) and fra(16)(q23)(FRA16D) loci.
The human adenine phosphoribosyltransferase gene (APRT) was mapped with respect to the haptoglobin gene (HP) and the fragile site at 16q23.2 (FRA16D). A subclone of APRT and a cDNA clone of HP were used for molecular hybridization to DNA from mouse-human hybrid cell lines containing specific chromosome 16 translocations. The APRT subclone was used for in situ hybridization to chromosomes expressing FRA16D. APRT was found to be distal to HP and FRA16D and was localized at 16q24, making the gene order cen-FRA16B-HP-FRA16D-APRT-qter.
Adenine Phosphoribosyltransferase↗
Induction of fragile sites in fibroblasts.
A simple, reliable method for the induction of folate-sensitive fragile sites, including the fragile X, in fibroblasts is described. The method involves only the addition of 600 mg/l thymidine to cultures 24 hrs before they are harvested.
Cells, Cultured↗
Use of amiodarone in childhood.
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Adolescent↗
Prevention of rickets in Asian children: assessment of the Glasgow campaign.
In March 1979 the Greater Glasgow Health Board launched a campaign to reduce the high prevalence of rickets in Asian children in the city. A precampaign survey had shown that voluntary low dose vitamin D supplementation would reduce the prevalence of rickets in Asian children. A survey carried out two and three years after the launch of the official campaign also showed a reduction in the prevalence of rickets in children taking low dose supplements equivalent to about 2.5 micrograms (100 IU) vitamin D daily. There was a considerable reduction in the total prevalence of rickets in this survey compared with the precampaign survey. Hospital discharges of Asian children with rickets declined rapidly after the start of the campaign.
Adolescent↗
Excess thymidine induces folate sensitive fragile sites.
Folate sensitive fragile sites on human chromosomes have been found to be inducible in cultured lymphocytes by high levels of thymidine but not by high levels of BrdU. The biochemical interpretation of events leading to fragile site expression has been revised since it is now clear that low levels of either thymidylate or deoxycytidine triphosphate will result in this phenomenon. A model for the DNA at a fragile site, composed of alternating repeating polypurine/polypyrimidine sequences is proposed.
Base Sequence↗
Heart injury in head-injured adolescents.
Of 19 adolescents (ages 10-18) admitted consecutively because of major blunt-impact trauma, 15 had head injuries (Glasgow coma scales 4-15). Eight had cardiac injury (42%), as demonstrated by cardiac wall-motion studies utilizing ECG-gated radionuclide angiography. Of the head-injured patients, 7 had cardiac injury (47%), and of these, one died in cardiac shock. Significant cardiac injury is known both experimentally and clinically to escape detection by conventional methods and a compromised cardiac output may bode ill for a damaged brain if cerebral perfusion pressure is in jeopardy.
Adolescent↗
Further segregation analysis of the fragile X syndrome with special reference to transmitting males.
A new series of 96 pedigrees with the fra(X) syndrome was analysed using complex segregation analysis with pointers, defining affection as any degree of mental impairment. These families were found to exhibit the same segregation pattern as the first series of 110 pedigrees (Sherman et al. 1984). The best estimate for penetrance of mental impairment in males was 79% and in females was 35% for the combined data. Again, there was little evidence for sporadic cases among affected males. Many more intellectually normal transmitting males have been observed since the existence of such males and the concomitant need to investigate the paternal side of pedigrees was recognized. On further investigation of all 206 pedigrees from the old and new data sets, the sibships of nonexpressing males appeared to be different from those of expressing males. Our analysis, using mental impairment as the phenotype, suggested that obligate carrier mothers and daughters of intellectually normal transmitting males are rarely, if ever, mentally impaired and that the sibs of transmitting males are much less likely to be retarded than the sibs of mentally impaired males. Though mothers and daughters of transmitting males are similar in phenotype, the expression of the gene in their offspring appears to be different: the penetrance of mental impairment is higher in offspring of intellectually normal daughters of transmitting males than in offspring of intellectually normal mothers of transmitting males. The implications of these observations for genetic counseling and for genetic models of the fra(X) syndrome are discussed.
Female↗
New classes of common fragile sites induced by 5-azacytidine and bromodeoxyuridine.
Two new classes of common fragile site seen in chromosomes from blood lymphocyte cultures are reported. The first class is induced in bands 1q42 and 19q13 by 5-azacytidine (5-AZA). Maximum induction of these fragile sites occurs when the 5-AZA is added 5-8h prior to harvest. The second class is induced in bands 6q13, 9p21, and 10q21 by bromodeoxyuridine (BrdU). In this instance maximum induction occurred if the BrdU was added 4-6h prior to harvest. The known fragile sites, both rare and common, are summarised.
Adult↗