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Biomedical subjects

G Turner

Publications and source records attributed to G Turner.

At least 235 records · Page 13Linked to original sources

Intravenous disopyramide in myocardial infarction: a haemodynamic study.

Disopyramide (2 mg/kg intravenously in 10 minutes) was administered to 14 patients with myocardial infarction within 36 hours of their infarct. Heart rate (HR) increased significantly five minutes after completion of the injection, but profound tachycardia was not seen. Mean wedge pressure (WP) rose and stroke volume (SV) fell. Disopyramide therefore showed a negative inotropic effect on the heart. Systemic vascular resistance (SVR) increased but blood pressure was not significantly altered. Diastolic and mean pulmonary arterial (PA) pressure was also increased by disopyramide. Peak plasma disopyramide level was reached five minutes after injection. The implications of the haemodynamic effects of disopyramide are discussed.

Adult↗

The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers.

An epidemiological study was carried out on the group of moderately retarded brothers (IQ, 30-55) identified by Turner and Turner [1974]. Of the original 58 sets of brothers, 54 sets (now 17 to 32 years old) were traced; another four sets (missed in the earlier survey) were added. Forty-five of the 58 pairs were diagnosed as having nonspecific X-linked mental retardation (MR) giving an overall frequency of 5.57 moderately retarded males/10,000 male births. In 12 of the 45 families, affected males had the fragile(X) and macroorchidism; six had macroorchidism alone, giving a frequency of 2.8 moderately retarded males with X-linked MR and macroorchidism +/- the fragile(X) per 10,000 males. Corresponding heterozygote frequencies are 7.34 and 3.65/10,000 females respectively. A new subgrouping of nonspecific X-linked mental retardation is described in six families: X-linked MR, macroorchidism without the fragile(X). Three other X-linked conditions were identified: in one family, the Coffin-Lowry syndrome, in another, Duchenne muscular dystrophy, and in two families X-linked MR and muscle atrophy. Half (56%) of the obligatory carriers of fra(X)-MR in this study were dull to mildly retarded. The mildly retarded heterozygotes had a significantly higher percentage of fra(X) expressing lymphocytes as compared to the intellectually normal heterozygotes. When the three types of nonspecific X-linked MR for which population frequencies were calculated were considered together, half of the obligatory carriers (46%) were dull or mildly retarded, thus confirming that this condition is a significant cause of mild intellectual handicap in females.

Adolescent↗

Liquid ventilation in dogs: an apparatus for normobaric and hyperbaric studies.

A liquid-breathing apparatus is described for remote surface studies and for use in experiments of near-hydraulic compression in dogs. It consists of a flexible tank sealed against chamber gas, containing a supply of clean warmed (38 degrees C) fluorocarbon (FC-80) equilibrated with 1 bar O2 and an electronically controlled means of delivering the liquid to the dog. Each breath (tidal volume 290 ml) was "weighed" into the animal by the signal from a force platform supporting the dog and a digital control unit that automatically actuated inspired-and expired-line solenoid valves. The apparatus was successfully used to remotely maintain liquid ventilation in awake dogs for 2 h during surface studies (5 dogs) and in dives to 1,000 m seawater (5 dogs). During liquid breathing, mean arterial O2 partial pressure was always adequate (congruent to 300 Torr) and mean arterial CO2 partial pressure was normal (less than or equal to 40 Torr). An uncompensated metabolic acidosis was indicated by low pH values and a decrease in arterial base excess to--4.5 meq x 1(-1). O2 uptake and CO2 output appeared to be significantly lower (42 and 35%, respectively) during liquid ventilation.

Animals↗

Intrauterine bends?

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Abnormalities, Multiple↗

The fragile X(q27) form of X-linked mental retardation: FUdR as an inducing agent for fra(X)(q27) expression in lymphocytes, fibroblasts, and amniocytes.

The effect of FUdR on the expression of fra(X)(q27) was examined in lymphocytes and/or fibroblasts from 16 affected males and 5 carriers from 10 families; six different culture media were used: F10, 5% serum, pH 7.3(37 degrees C); medium 199, 5% serum, pH 7.6(37 degrees C); folate-free 199, 5% serum, pH 7.6(37 degrees C), and these three media with FUdR (0.05 micron). In lymphocytes there was no significant difference in the percentage of fra(X) expressing cells between any of the FUdR-containing media. The highest percentage of expressing cells seen in lymphocytes with FUdR was 56%. The average enhancement in males with FUdR in the 199 and folate-free 199 media was 30%. This relative enhancement with FUdR was very much higher in a few blood specimens delayed in transit and FUdR may prevent some of the false-negative results obtained from mailed specimens. FUdR did not induce the marker in four obligate carriers with previously negative results. The fibroblasts from affected males were grown in the six specific media for the last 48 hr. Two of the six media yielded reproducibly positive results. These were 199-FUdR and folate-free 199-FUdR with mean percentages of expressing cells of 12.8 +/- 7.1% and 11.3 +/- 6.1%, respectively. F10-FUdR, which contains thymidine, did not permit expression of the marker in fibroblasts and there was no difference in the percentage of fra(X) expression in 199-FUdR media with or without folate. It was concluded that FUdR shows promise as an agent to permit prenatal diagnosis of the condition and to enhance the detection of the marker in lymphocyte cultures.

Cells, Cultured↗

Screening for cystic fibrosis by a stool trypsin method.

Mass screening for cystic fibrosis by a trypsin assay of stool dried on filter paper was evaluated in 20 000 5-day-old babies. Sweat tests were required in only 7 babies. Three of them had cystic fibrosis. The test gave a false-negative result in at least 2 babies, but each had normal pancreatic function. This is not an ideal screening test for cystic fibrosis, as it misses cases with normal pancreatic function, but it is very cheap, highly specific, and appears to be the best currently available screening test.

Cystic Fibrosis↗

Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).

Males affected by one form of X-linked retardation possess the X-chromosomal marker fra(X)(q27) and are physically normal except for macro-orchidism. To relate possession of the marker X to phenotypic expression in female heterozygotes, we investigated 128 mildly retarded (IQ, 55 to 75) school-girls in Sydney, New South Wales, Australia. Seventy-two girls had no physical abnormalities and of these, five (7 per cent) carried the marker X. Investigation of relatives revealed retarded males in four of the five families. Pedigree and chromosomal analysis identified a further 18 heterozygotes; six were regarded as intellectually or educationally retarded. We conclude that expression of the X-linked mutation in female carriers contributes to mild mental retardation of girls, that those who are physically normal should be screened for the marker X, and that their relatives should be investigated in order to identify additional females with a high risk of conceiving affected males.

Child↗

X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.

Twenty-three families with X-linked mental retardation were examined for the presence of a fragil site on the long arm of the X chromosome (Xq27 fra). Specific culture media were necessary to demonstrate this site. In only seven of the families was the Xq fragile site observed; in these, all of the affected males had both the fragile X and macro-orchidism. Macro-orchidism was not observed in the remaining 16 families. In the families with Xq27 fra segregating the fraes. This correlated with the age of the carrier. The 25 affected males with macro-orchidism and Xq27 fra had some minor clinical features in common: there was an increase in birth weight, high forehead, prognathism, pale irides, big ears, and an increased head circumference in infancy and childhood which did not persist into adult life. The majority of the affected individuals were moderately retarded.

Abnormalities, Multiple↗

Amplification of a mitochondrial DNA sequence in the cytoplasmically inherited 'ragged' mutant of Aspergillus amstelodami.

A comparison has been made between mtDNA of the cytoplasmically inherited 'ragged' mutant of Aspergillus amstelodami and that of the wild-type strain. Ragged mitochondria contain both the wild-type mitochondrial genome and several large DNA molecules which are not cleaved by the restriction endonucleases BamHI, HaeIII, HhaI, HindII, HindIII, PstI and MboI, but are converted by either EcoRI or HpaII into a single 820-840 base-pair fragment. Restriction analysis and molecular hybridization data indicate that this fragment contains sequences of wild-type mtDNA located within a 1200-base-pair segment of the 40,500-base-pair genome, for which a basic restriction map has been deduced. It is concluded that in the ragged mutant a small segment of wild-type mtDNA has been amplified as tandem repeats, which is reminiscent of the Rho- petite phenotype of yeast. The results are discussed in relation to the phenomenon of senescence in Podospora anserina.

Aspergillus↗

Brain adenylate cyclase activation in the jaundiced rat.

Adenylate cyclase responses of brain cortex and neostriatum to noradrenaline and dopamine are increased in rats with jaundice in proportion to its severity. In comparing the situation with uraemia, the relevance of phenols has to be considered.

Adenylyl Cyclases↗