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Biomedical subjects

E Robertson

Publications and source records attributed to E Robertson.

At least 55 records · Page 3Linked to original sources
PubMed1990

Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders.

The morphology of hepatic peroxisomes in five patients with metabolic disorders believed to be due to inherited defects of peroxisomal function or biogenesis is described. Electron microscopy and cytochemical staining for catalase were used to identify peroxisomes in two boys with infantile Refsum's disease (IRD), a girl with autopsy confirmed neonatal adrenoleukodystrophy (NALD), and two boys with pseudo-Zellweger syndrome (PZS). In the patients with IRD and NALD hepatic peroxisomes were significantly reduced in size and number and contained electron dense centres. In the liver of the patients with PZS the peroxisomes were enlarged. Morphologically abnormal peroxisomes were also detected in autopsy tissue from one boy with PZS using electron microscopy. Lamellar-lipid inclusions and mitochondria with crystalline inclusions and/or abnormal cristae are also described in two patients, one with IRD, the other with NALD.

Adrenoleukodystrophy↗
PubMed1990

XY female mice resulting from a heritable mutation in the primary testis-determining gene, Tdy.

Chimeric mice constructed with XY embryonic stem (ES) cells that had been multiply infected with a retroviral vector were used in a genetic screen to look for mutations affecting the sex determination pathway in mice. From a small number of chimeras screened one was identified that gave rise to a low proportion of XY females amongst his offspring. Analysis of the segregating patterns of retroviral insertions demonstrated that the mutation was found in a subset of the offspring derived from one originally infected ES cell. However, the mutation appeared to have occurred subsequent to the infection. Some of the XY females proved to be fertile, and the mutant phenotype was found to segregate exclusively with the Y chromosome. Analysis of the offspring also confirmed the absence of any retroviral insertion that could be correlated with the mutation. Further characterisation of the Y chromosome carrying the mutation by karyotypic analysis, and by Southern blotting with a range of Y-specific DNA probes suggested that there has been no gross deletion or rearrangement of the Y carrying the mutation. There also appeared to be no loss of Y-specific gene functions apart from that of testis determination. Moreover, the mutation is complemented by Sxr', the minimum portion of the mouse Y known to carry Tdy. From the phenotype and deduced location of the mutation, we conclude that it is within the Tdy locus. This is the first such mutation to be described in mice.

Animals↗
PubMed1989

Response to Kirton.

Further comment and analyses of data from 103 alcoholics indicate less internal consistency in alcoholics' responding than in normals, no tendency for innovative alcoholics to engage in more hostile/aggressive behaviors than adaptor alcoholics, and a likelihood that more than three factors for alcoholics would be required to account for variance comparable to that for nonalcoholic persons.

Adaptation, Psychological↗
PubMed1987

Tissue-specific expression of the human type II collagen gene in mice.

Type II collagen is crucial to the development of form in vertebrates as it is the major protein of cartilage. To study the factors regulating its expression we introduced a cosmid containing the human type II collagen gene, including 4.5 kilobases of 5' and 2.2 kilobases of 3' flanking DNA, into embryonic stem cells in vitro. The transformed cells contribute to all tissues in chimeric mice allowing the expression of the exogenous gene to be studied in vivo. Human type II collagen mRNA is restricted to tissues showing transcription from the endogenous gene and human type II collagen is found in extracellular matrix surrounding chondrocytes in cartilage. The results indicate that the cis-acting requirements for correct temporal and spatial regulation of the gene are contained within the introduced DNA.

Animals↗
PubMed1986

Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid.

Normal amniocytes and chorionic villous cells in culture are able to produce 14CO2 from exogenous [1-14C] phytanic acid. In contrast, cells from four fetuses at risk for the cerebro-hepato-renal (Zellweger) syndrome and related disorders showed a greatly reduced activity, indicating a block in oxidation of the fatty acid. Our data confirm that phytanic acid oxidase activity measurement can be used for the prenatal assessment of this group of disorders.

Adult↗
PubMed1985

Effects of preoperative teaching on postoperative pain: a replication and expansion.

This study was designed to test the effectiveness of brief relaxation training on postoperative pain, replicating and extending a study of Flaherty and Fitzpatrick (1978). A two-group pre- and post-test experimental design was used to determine if vital signs, analgesic consumption, anxiety, self-reported incisional pain sensation and distress differ in postsurgical patients who have or have not received relaxation training. Seventy-two adult, elective abdominal surgery patients were randomly assigned to treatment groups. Subjects in both groups were visited on the eve of surgery. Experimental subjects were taught a relaxation technique. Equal time was spent with control subjects. Following surgery all subjects were observed during ambulation. Vital signs were measured pre- and postoperatively, as were self-report of pain sensation and distress. Results showed that distress caused by painful sensations was significantly lower for experimental subjects (F (1, 53) = 4.69, p = 0.03). Vital signs, analgesic consumption and self-reported pain sensation were not altered by relaxation training. These findings only partially agree with those of Flaherty and Fitzpatrick. Additional analyses by type of surgery (cholecystectomy and hysterectomy) showed hysterectomy subjects reported less pain sensation and distress and used less analgesics than cholecystectomy subjects.

Adult↗
PubMed1985

Variable distributions of serum creatine kinase reference values. Relationship to exercise activity.

Although the effect of exercise on serum creatine kinase (CK: EC 2.7.3.2) activity is well known, no standard protocol for blood collection conditions has been developed. Variable frequency distributions of CK activities have been reported for reference range samples from different laboratories and have been attributed to laboratory differences. In this study the frequency distributions of creatine kinase activities (CK: EC 2.7.3.2) in serum samples obtained from the same groups of volunteers varied from a normal Gaussian distribution, to skewed distributions, on different occasions. In one collection extremely high CK values followed the performance of an eccentric exercise step test 5-8 days previously. In 2 students serum CK activities had not returned to resting values 12 and 15 days later. Peak serum CK values occurred within 24 h of other types of exercise. Serum CK frequency distributions in blood samples obtained from a group of nurses was skewed, whereas the distribution in mothers of school children was Gaussian. When repeat samples were obtained from the nurses after instruction to avoid exercise, the distribution became Gaussian. In view of the increasing levels of physical activity in the community, a standard protocol for serum CK analysis is required, in which exercise activity over the previous three weeks should be documented. Test subjects should be counselled to avoid unusual eccentric exercise and sampling should include 3 tests at least 1 week apart.

Adolescent↗
PubMed1985

A follow-up study of post partum illness, 1946-1978.

Eighty-two patients, who were treated for post partum illness between 1946 and 1971, were identified and followed up. Diagnostically, the sample comprised unipolar depression (52%), bipolar disorder (18%), schizophrenia (16%), abnormal personality with depression (8%), organic disorder (2%), and obsessional state with depression and paranoid disorder (1% each). The overall prognosis was good, except for schizophrenia, in which more than 50% of patients had chronic disability. Further childbirth intensified, and caused deterioration of, the underlying schizophrenia process. Following an initial illness in the puerperium, the probability of a recurrent affective illness was 43% for unipolar and 66% for bipolar disorder. The risk of developing another post partum illness varied from 1 in 3 to 1 in 5 pregnancies. Five percent of the sample ultimately committed suicide, and the probable incidence of infanticide was 4%.

Adult↗
PubMed1983

Sequence analysis of fowl plague virus mutant ts47 reveals a nonsense mutation in the NS1 gene.

A mutant of fowl plague virus, ts47, induces the synthesis in infected cells of a truncated NS1 polypeptide at both permissive and restrictive temperatures. Nucleotide sequence analysis of the segment coding for the NS1 polypeptide, segment 8, indicates that this aberration is due to a nonsense mutation. This mutation occurs in the region of the NS1 gene which overlaps with the NS2 gene and there is a corresponding amino acid substitution in the NS2 polypeptide. While it is not clear which polypeptide is responsible for the thermal instability of ts47, the loss of the COOH-terminal 28 amino acid residues from the NS1 polypeptide does not affect replication of the virus at permissive temperatures.

Base Sequence↗
PubMed1983

Genetic screening of newborn in Australia. Results for 1981.

Since screening of newborn infants for phenylketonuria (PKU) by the Guthrie bacterial inhibition assay was established in the 1960s, 3 017 703 infants have been tested in Australia. Two hundred and fifty-one cases of PKU (0.83/10 000) and six cases of the variant forms of malignant hyperphenylalaninaemia (MHPA) (0.02/10 000) have been detected. In 1981, 11 infants with PKU were detected. Screening for congenital hypothyroidism was carried out in seven States, and 66 new cases were detected in 1981 (2.13/10 000). In Adelaide, 154 310 infants have been tested for galactosaemia and a total of seven cases have now been detected (0.45/10 000). In New South Wales, 35 955 infants have been tested for cystic fibrosis of the pancreas, and 17 cases were found (4.73/10 000).

Australia↗
PubMed1983

Cord blood serum in newborns of diabetic mothers.

Serum cholesterol, triglycerides and lipoprotein cholesterol were measured in cord bloods from 117 newborns. Group I consisted of 39 infants of diabetic mothers and Group II (control) consisted of 78 newborns of non-diabetic mothers. The most significant difference in serum lipids between the two groups was the higher levels of LDL cholesterol and lower levels of HDL cholesterol in the newborns of diabetic mothers. Cord blood serum cholesterol was slightly, but not significantly, higher in children born of diabetic mothers. Serum triglycerides were also not significantly different between the groups. While it remains to be established whether elevated levels of LDL cholesterol and decreased levels of HDL cholesterol at birth in these infants represent a transient phenomenon, this study suggests that newborns of diabetic mothers may be predisposed early in life to LDL hypercholesterolemia and thus may be at a greater risk of developing coronary heart disease later in life.

Cholesterol↗