PubMed HealthSearch

Biomedical subjects

B Lake

Publications and source records attributed to B Lake.

At least 19 recordsLinked to original sources

Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non-invasive diagnosis of mitochondrial myopathy.

Southern hybridisation demonstrates deleted mitochondrial DNAs (mtDNAs) in muscle but not in blood in a subgroup of patients with mitochondrial myopathy. The polymerase chain reaction (PCR) was used to search for low levels of rearranged mitochondrial DNAs in blood in 24 patients with mitochondrial myopathy, and 15 asymptomatic relatives, all of whom have no detectable abnormality on restriction enzyme analysis of blood mitochondrial DNA. In eight patients and two of their relatives, PCR products were obtained consistent with deletions of mitochondrial DNA. The presence or absence of a deletion was correctly predicted in 10 out of 11 patients from whom information was available from muscle DNA. No false positives were obtained in 43 controls. PCR analysis of blood may be applicable as a non-invasive screening test of affected individuals and in carrier detection.

Blotting, Southern

Two cases of Winchester syndrome: with increased urinary oligosaccharide excretion.

We present our findings in two unrelated patients with the characteristic clinical and radiological features of the Winchester syndrome. The histological findings in gum and skin biopsies taken from one of the subjects, indicated excessive collagen turnover (active phagocytosis, an active endoplasmic reticulum, and an abundance of fibrillogranular material of probable collagen origin). An abnormal oligosaccharide was detected in urine from both patients which was identified as a trisaccharide containing one fucose and two galactose residues. The finding of this oligosaccharide may prove a useful marker in other cases of this rare syndrome and may help elucidate the underlying biochemical defect.

Child

Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.

In studies of the X chromosomes of two unrelated boys with adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrophy, and mental retardation, conventional G banding did not reveal any numerical or structural abnormality, but direct DNA analysis with the X short-arm probes 754, C7, and OCT revealed a deletion in 1 of these patients. It is likely that both boys have a deletion at Xp21 affecting a number of closely linked disease-specific gene loci.

Adrenal Insufficiency

The Attachment Dynamic in adult life.

A case is presented for regarding the Attachment Dynamic as a theoretical model for hypotheses on the aetiology and management of neuroses and personality disorders. It is proposed that man has a number of natural propensities, including: attaining 'companionable interactions' with peers, in which competence is affirmed, self-esteem enhanced, and a state of well-being ('assuagement') is promoted. when hindered in the pursuit of interests and companionable interaction, an urge to seek support through proximity to, and often 'supportive interaction' with support-givers. severe psychological distress ('disassuagement') when support-givers cannot be induced to act effectively, with a propensity to devise defensive strategies, supplemented by psychological defence mechanisms; when maladaptive, these strategies are the source of neurotic symptoms and antisocial traits. Through these propensities, movement between companionable interaction and effective support sustains the urge to develop skills and explore interests creatively. However, this movement is hindered by the experience of repeated disassuagement and the need to maintain maladaptive defensive strategies.

Adult

Concept of ego strength in psychotherapy.

The concept is discussed of how ego strength and equivalent dimensions of the term have been developed by well known contributors to psychotherapeutic literature and theory. A case is made for the translation of these dimensions, which include motivation and psychological mindedness, into operational terms and into items which are descriptive of the notion of personal and social competence. This has been done to provide guidelines for the assessment of patients for an optimal psychotherapy. A rationale for the inclusion for each item is constructed from the observations of experienced psychotherapists and research workers.

Ego

Blood viscosity factors in evaluation of submaximal work output and cardiac activity in men.

Sixty-two male subjects, including patients with postmyocardial infarction, angina, other disorders, and normals, were studied by exercise testing on the bicycle ergometer, including exercise ECG, and by in vitro determination of blood viscosity, plasma viscosity, aggregation of red cells, and other factors. Significant correlations were found between the blood viscosity factors on the one hand, and different terms describing physical fitness and cardiac functions on the other. In all correlations an elevation of blood viscosity factors led to lower fitness or lower cardiac efficiency; and a decrease of blood viscosity (or plasma viscosity, or compound viscosity product) was associated with better fitness and higher cardiac efficiency. Similarly, ECG ST-segment depression was proportional to increase of blood viscosity factors. All these highly significant correlations were found within a very narrow range of hematocrits, while the hematocrit value itself was not significant in this study.

Adult

Definition of an exercise tolerance test.

Three hundred subjects undertook a submaximal bicycle ergometry procedure which was terminated at level 19 on the Borg perceived exertion rating scale. The findings indicated that the total work output was an effective reference criterion for each individual. Age and height were considerably more dominant than weight in affecting this output in both sexes. In women, however, the use of the maximum work load/maximum systolic blood pressure ratio gave the best explanation of variation. A numerical relative fitness ranking derived from the work output was developed to achieve comparison among subjects irrespective of age, height, weight and sex. This categorization revealed, interalia, that the average maximum systolic blood pressure was a major limiting factor in performance. Significant changes characteristic of ischaemia occurred in the electrocardiograms of a substantial proportion of subjects, including the apparently well, the proportion being higher in women than in men. There were definite differences between the ranked work load categories. The relative fitness ranking is of value in assessing a variety of factors affecting performance in heterogeneous populations, and also in following population responses to various procedures.

Adolescent

Exercise fitness, cardiac work and blood viscosity factors in patients and normals.

A study of 41 cardiovascular patients and normals showed significant correlations between physical fitness (as expressed by a fitness index based on work output) and high shear rate blood viscosity (p less than 0.01); between the cardiac work expressed as double product (= myocardial oxygen demand) and aggregation of red cells (p less than 0.05); between the triple term of cardiac work (fitness index divided by double product) and high shear rate blood viscosity (p less than 0.005) or aggregation of red cells (p less than 0.05), in all cases correlations being negative i.e., higher cardiac work or higher fitness being related to low blood viscosity or lower aggregation of red cells. Significant differences were found between high-fitness and low-fitness groups, the high-fitness group showing from plasma viscosity (p less than 0.0005), lower fibrinogen level (p less than 0.05), and higher albumin/fibrinogen ratio (p less than 0.01).

Adult