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Biomedical subjects

A Robinson

Publications and source records attributed to A Robinson.

At least 451 records · Page 25Linked to original sources
PubMed1980

Language and cognitive development in 47,XXX females followed since birth.

In this report, data are presented on language and cognitive development in an unselected group of eleven 47,XXX females, followed since birth, who are now 6--14 years old. The results of the Yale Developmental Exam (at 2 years) and the Illinois Test of Psycholinguistic Abilities (ITPA) (at 4--6 years) show an early delay in language development. Those girls who presently have serious language and learning problems were significantly delayed in first walking or talking, whereas the relatively unaffected girls were not. Results of the Wechsler Preschool and Primary Scale of Intelligence (WPPSI) at 4 years of age and the Wechsler Intelligence Scale for Children (WISC or WISC-R) at 8 years of age are similar and show a generalized depression of both verbal and nonverbal abilities. Thus, unlike 45,X females or 47,XXX males, triple-X females do not have a specifically nonverbal or verbal cognitive deficit.

Adolescent↗
PubMed1980

Suxamethonium apnoea associated with plasmaphoresis.

A patient is reported who developed suxamethonium apnoea as a result of reduction in serum cholinesterase activity secondary to both pregnancy and plasmaphoresis. Had the enzyme studies been carried out before operation, regional rather than general, anaesthesia would have been used. In order to avoid the problems associated with prolonged paralysis we recommend the measurement of cholinesterase activity in all patients who have undergone plasmaphoresis and in whom anaesthesia involving the use of suxamethonium is contemplated.

Adult↗
PubMed1980

Fluoroscopy without the grid: a method of reducing the radiation dose.

The anti-scatter grid has been removed from the fluoroscopic set during the course of over 80 contrast examinations performed routinely during the ordinary workload of a busy paediatric radiology department. This manoeuvre approximately halves the radiation dose to the patient during both fluoroscopy and radiography. Our experience suggests that the degree of loss of contrast consequent on the abandonment of the grid is diagnostically acceptable during many examinations performed on children (of all ages), when balanced against the lower radiation dose received. In addition, an assessment has been made of the "contrast improvement factor" of the grids in two fluoroscopic sets in common use, using tissue-equivalent phantoms of various thicknesses. Although the contrast is significantly improved by the use of the grid, to a degree dependent on various factors, the relevance of this improvement in clinical radiology will depend on exactly what information is being sought. It is recommended that radiologists should use the grid with discretion when performing fluoroscopic examinations on children and that the apparatus for such examinations should have the capability for easy removal and reintroduction of the grid.

Adolescent↗
PubMed1980

Effects of quinidine on serum digoxin concentration: a prospective study.

Results of studies of 15 adults placed on quinidine therapy after their serum digoxin concentrations were stabilized showed significantly increased digoxin concentrations. The average digoxin concentration before quinidine therapy was 0.75 +/- 0.28 ng/mL and after 4 days of quinidine therapy was 1.41 +/- 0.43 ng/mL. During this period, the renal clearance of digoxin decreased from 53.4 +/- 21 mL/min . 1.73 m to 35.3 +/- 12.6 mL/ min . 1.73 m. No significant correlation was found between the individual rise in serum digoxin concentrations and the rise in serum quinidine concentrations. These results suggest that serum digoxin concentration should be monitored closely for at least the first 4 days of quinidine therapy.

Aged↗
PubMed1979

Chromosome deletion [46,XX,del(20)(q11)] in agnogenic myeloid metaplasia.

A woman in the fourth year of agnogenic myeloid metaplasia was found to have partial deletion of the long arm of chromosome 20 [46,XX,del(20)(q11)] in mitoses of presumably immature myeloid cells from unstimulated cultures of peripheral blood and bone marrow. Cytogenetic studies of peripheral blood lymphocytes showed a normal female karyotype.

Blood Transfusion↗
PubMed1979

Acute nonlymphoblastic leukemia in childhood.

Cytogenetic studies have been done on a group of childhood patients over a period of 3 1/2 years in which time Giemsa trypsin banding was applied to all specimens. Fifteen of the 107 patients (14%) were diagnosed as having acute nonlymphoblastic leukemia (ANLL). Twelve of the 15 had chromosomal abnormalities. The most common was an involvement of the No. 7 chromosome which occurred in five patients. Three patients had trisomy 19. No correlation could be found between the disease subgroup and the karyotypic aberration in patients with anomalies involving a common chromosome.

Adolescent↗
PubMed1979

Cytogenetic studies of chronic myelocytic leukemia in children and adolescents.

In a 3 1/2 year cytogenetic study of 107 leukemia patients diagnosed in childhood and adloescence, 8 presented with chronic myelogenous leukemia (CML). Seven of the 8 had chromosomal abnormalities. Six had the Ph1 chromosome; 5 had the usual 9;22 translocation. Two patients had involvement with chromosome 15; one had a 9;15 translocation in Ph1 positive cells during remission while a second had a 1;15 translocation during blastic crisis. The 2 patients who did not have a Ph1 chromosome survived 13 and 30 months, respectively, considerably less time than the 4+ year survival in most of those with Ph1 positive CML.

Adolescent↗
PubMed1979

Increased aneuploidy in Alzheimer disease.

The purpose of this study was to determine if cytogenetic changes are present in Alzheimer disease, one of the presenile dementias. The chromosomes of three groups of people were studied: 1) sporadic cases of Alzheimer disease (eight cases), 2) familial cases of Alzheimer disease with affected individuals in at least two generations of their families (five cases), and 3) currently unaffected siblings of the affected individuals in these families (nine cases). One hundred cells per individual were examined using GTG banding to allow chromosome identification. A statistically significant increase in aneuploidy was found in five of eight patients in group 1 (P less than 0.05) and in each of five patients in group 2 (P less than 0.001) when compared with the rate of aneuploidy in age- and sex-matched controls. In addition, two individuals in group 3 exhibited a significant increase in aneuploidy over the control group, raising the possibility that finding increased aneuploidy may allow one to anticipate the clinical expression of the disease state.

Aged↗
PubMed1979

Chromosome 1 abnormalities in relapse and terminal stages in childhood leukemia.

Seven of 114 children with leukemia were shown to have abnormalities of chromosome 1. These included trisomy of parts of chromosome 1 as well as translocations of chromosome 1 to other chromosomes. The abnormalities were found during a relapse or terminal stage, after which the patient was refractory to therapy in all cases.

Adolescent↗
PubMed1979

New translocations in human lymphocytes: a mutagen monitoring system.

The human lymphocyte is a premier cell for monitoring chromosome aneuploidy. The lymphocyte is easily obtained, can be studied before and after culture, and has been extensively investigated. Assays available for lymphocytes include the scoring of chromosome breaks (subjective and laborious), the analysis of chromosome abnormalities such as increase or decrease in number (versus normal background), dicentrics etc., and the micronucleus test (presumable end-state phenomena). We propose the monitoring of somatic chromosome translocations in human lymphocytes. Background data available from North America indicate that the frequency of de novo chromosome translocations in Halifax, Portland, Denver, and Atlanta is about 1.7 x 10(-3). The most common translocation arising in lymphocytes is between chromosomes 7 and 14 (with a frequency of 4 x 10(-4). All translocations occurring de novo in human lymphocytes tend to appear balanced with no evidence for loss or gain of chromosome material. Cytogenetic laboratories are processing lymphocytes daily. The resultant photographs and karyotypes are all scorable for de novo translocations. Suitable data on exposure to possible mutagenic agents could be collected in advance of these chromosome studies. This would provide a new method for monitoring chromosome changes in the population. The cost of monitoring lymphocyte chromosomes for somatic translocations would be small, since numerous laboratories study lymphocytes rountinely for clinical diagnostic purposes. There may be merit in availing ourselves of easily available data from a very available species: man.

Chromosome Aberrations↗