Biomedical subjects
Publications and source records attributed to G R Sutherland.
Exclusions for unassigned markers were determined by deletion mapping at the following segments: (4)(p15.1 leads to 16.1) - F13A" F13B, TF; (4)(q27 leads to 31) - TF; (9)(p22 leads to pter) - F13B; (12)(p12) - TF; (12)(pter) - TF; (18)(q22) - F13A, K and LU; (19)(p or qter) - TF; (22)(pter leads to q11) - F13B. GC was excluded from (4)(p15.1 leads to 16.1) and (4)(q27 leads to 31). GALT was excluded from (9)(p22 leads to pter).
The incidence of the autosomal folic-acid-sensitive fragile sites in 524 institutionalized retardates (.0095) was found to be significantly higher than in 1,019 unselected neonates (.00098), suggesting that heterozygosity for these fragile sites may not be as harmless as previously thought. When one of the parents of an index case was found to carry the fragile site, that parent was always the mother. The fragile site at Xq27 was not found among the neonates studied, but was present in 1.6% of the institutionalized retarded males examined; if this fragile site occurs in normal males, then it does so rarely. Further cytogenetic studies of fragile sites are required on both normal and abnormal populations.
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The frequencies of the bromodeoxyuridine (BrdU)-requiring fragile site at 10q25 in 1,026 unselected neonates, 901 patients referred for chromosome studies, and 87 institutionalized retardates were not significantly different from each other. The gene frequency was .013, and the population was in Hardy-Weinberg equilibrium. Segregation analysis confirmed that the fragile site followed codominant inheritance. This fragile site and its nonfragile allelomorph can be considered to constitute the first true chromosomal polymorphism to be described in man.
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Evidence of continuing hospital admissions of patients with Asian rickets and osteomalacia led to a further attempt to provide more effective preventive measures for the Glasgow Asian community. Dose-response studies showed that the equivalent of 10 microgram of vitamin D daily would provide effective prophylaxis, and a general practice survey showed that self-administered vitamin D supplements would reduce the prevalence and severity of Asian rickets. A multidisciplinary working group devised a preventive campaign based on the free issue of vitamin D supplements on demand to children who required them. Supported by a health education programme for community health personnel and the Asian community, the first 16 months of the campaign produced an eight-fold rise in the issue of supplements to older Asian children and a 33% increase in their issue to infants of all ethnic groups. Because more children are receiving vitamin D supplementation the campaign seems likely to reduce the prevalence of Asian rickets in Glasgow.
PI phenotypes (including subtypes) were determined for 168 individuals with chromosomal abnormalities ascertained in Adelaide. These included patients with mosaicism, trisomy 21, trisomy 13, trisomy 18, and various sex chromosome aberrations (45,X, 47,XXX, 47,XXY, 47, XYY, and 48,XXXY). Data did not support an existing proposition that mildly deficient PI phenotypes predispose to abnormal chromosome segregation during mitosis of meiosis. Phenotypic distributions of each group were statistically similar to control populations of cord bloods and bloods donors.
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Myocardial dysfunction may result from severe trauma. Therefore, left (LV) and right ventricular (RV) function were prospectively assessed by ECG-gated blood pool radionuclide (RN) angiography in 25 consecutive patients who had sustained severe trauma including blunt chest injuries. Focal abnormalities of RV and LV wall motion were defined in 17 patients; 12, RV; two, LV; and three, biventricular. In two patients traumatic tricuspid insufficiency was also demonstrated, and subsequently verified by contrast angiography. Other means to detect myocardial contusion (enzymatic, electrocardiographic, and Tc-99m pyrophosphate scintigraphy) proved to be insensitive when compared to RN angiography. Two of the five deaths in the group were attributed to refractory arrhythmias. Surgical or post-mortem evidence of traumatic myocardial injury was obtained in five instances when RN angiography indicated contusion. Of the 13 patients available for followup examinations, 11 showed complete or partial resolution of the abnormality and two were unchanged. Comprehensive cardiopulmonary monitoring revealed an inverse relationship between right ventricular ejection fraction (RVEF) and pulmonary vascular resistance (PVR) (R2 = 0.42; p < 0.01) and between the PVR and left ventricular ejection fraction (LVEF) (R2 = 0.48; p < 0.01) and left ventricular end-diastolic volume (LVEDV) (R2 = 0.69; p < 0.01). Further, as right ventricular end-diastolic volume (RVEDV) was increased in trauma, left ventricular function and compliance were reduced. In blunt chest trauma RV contusion occurs more frequently than previously recognized and positive RN angiography constitutes prima facie evidence of direct myocardial injury. Further, LV function remains preload dependent, but may be depressed by elevated PVR impeding the blood flow from RV to LV and/or decreases in LV compliance.
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Twenty-three patients with total anomalous pulmonary venous connection were studied by two-dimensional echocardiography. In all cases the diagnosis was made before invasive procedures, with surgical or angiocardiographic confirmation. Eleven patients had supracardiac drainage (three to the coronary sinus, two to the right atrium,) and seven had infracardiac drainage. In the majority of cases the precise pattern of drainage could be identified by combining suprasternal, praecordial, and subcostal views. In 12 cases where the suprasternal cut was used a pulmonary venous confluence could be identified, having a cross-like structure in nine, with three others appearing as a dilated channel behind and separate from the left atrium. Thus, two-dimensional echocardiography reliably makes the diagnosis of total anomalous pulmonary venous connection and in the majority the precise pattern of drainage can be determined.
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A large kindred in which an inv(3)(p25q23) is segregating is described. At least two malformed children with the recombinant chromosome rec(3)dup(q23 leads to qter)del(p25 leads to pter) have been produced, both of whom have the characteristic trisomy 3q syndrome. Genetic marker studies showed that Pl and GM are not linked to the inversion break points. The Pl-GM linkage group has been excluded from much of chromosome 3 by deletion mapping and linkage analysis of this kindred.
A brother and sister have been detected who are homozygous for the bromodeoxyuridine (BrdU)-requiring fragile site at 10q25. The children are phenotypically normal, indicating that homozygosity for this fragile site is harmless, at least during childhood.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.