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Biomedical subjects

A Harris

Publications and source records attributed to A Harris.

At least 433 records · Page 24Linked to original sources

Age and pattern of intellectual decline among Down syndrome and other mentally retarded adults.

A comparison was made of Down Syndrome and other mentally retarded young adults in community work and residential settings for differences in cognitive profile across age groups using the Wechsler Intelligence Scale for Children. Evidence is of a significant erosion of test scores, especially performance scale scores for the non-DS mentally retarded subjects from the third to fourth decades of life. The Down Syndrome cohort remained relatively stable for cognitive profile over time with the notable exception of the Block Design subtest which declined significantly over the two decades; and in contrast with the control sample. Further investigation is suggested in the event that the Block Design subtest has potential as a diagnostic 'marker' for the early identification of DS individuals likely to be most susceptible to premature Alzheimer's-like senile dementia.

Activities of Daily Living↗

Aggregated early intervention effects for Down's syndrome persons: patterning and longevity of benefits.

Pooled findings from 21 early intervention demonstration studies for Down's syndrome infants and children yield consistency of short-term benefits in the growth of finer motor skills, simple social repertoire and DQ/IQ scores, but conflicting evidence in support or not of benefits in the gross motor, linguistic and cognitive/academic domains. Support for the tenacity of gains, on follow-up to the early years of primary schooling, is disappointing. It is recommended that: (1) intervention programmers view the key working assumptions and ideological positions governing present practices more critically; (2) intervention curricula reflect the unique biological and behavioural properties of the syndrome, taking into account individual differences which are independent of etiological label; and (3) care delivery systems be based more fully on multidisciplinary collaboration, especially between the health sciences and education fields.

Child Development↗

The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization.

Probes for restriction fragment length polymorphisms mapping between Xp21 and Xq22.3 have been used in a linkage study of incontinentia pigmenti (IP). Six independent sporadic cases of disorders resembling IP with X-autosome translocations involving the same X chromosome breakpoint (Xp11) have been reported. These observations suggest that the IP gene may be located in the Xp11 chromosomal region. However, the linkage study with DNA probes has failed to confirm this localisation.

Chromosome Mapping↗

X-linked lymphoproliferative disease: linkage studies using DNA probes.

Linkage studies have been carried out with 28 X-linked polymorphic probes to try to locate the gene for X-linked lymphoproliferative disease (XLP). DNA from three families has been analysed, including three affected boys among 21 family members. None of the probes tested has been found to be linked to XLP. However, the data are recorded for the use of other workers on this rare disease.

Chromosome Mapping↗

Clinical spectrum and outcome of neonatal convulsions.

The clinical spectrum and outcome of neonatal convulsions within an obstetric hospital population were reviewed for the 5 years, 1978-82, inclusive. There were 156 convulsing neonates managed at the Mater Mothers Hospital (110 inborn, 46 outborn). The incidence of early neonatal convulsions for inborn babies was 3.0/1000 live births. Antenatal and perinatal risk factors were compared between the 156 convulsing infants and the 36,082 infants born during the same period who did not convulse. The leading risk factors for convulsions were prematurity, intra-uterine growth retardation, low 5 min Apgar score, pre-eclampsia, antepartum haemorrhage, twin pregnancy and breech presentation. The predominant seizure type was tonic in 28.6%, multifocal clonic in 27.2%, subtle in 18.4%, myoclonic in 15.0% and focal clonic in 8.8%. Mortality (31%) and long-term disability (43%) rates were high. Tonic seizures had the highest mortality and morbidity. Throughout the duration of the study period infants received increasingly thorough investigation. Causative factors were determined in 95% of convulsing infants, most frequent being hypoxic-ischaemic encephalopathy (40.3%) and cerebroventricular haemorrhage (30.5%). Follow-up data on 99 of the 107 survivors (93%) revealed severe disability in 25, moderate disability in eight and mild disability in 10. A poor long-term prognosis was associated with prolonged convulsions, tonic and multifocal clonic convulsions, convulsions due to asphyxia and cerebroventricular haemorrhage and an abnormal neurological examination at discharge.

Humans↗

X-linked lymphoproliferative disease: a karyotype analysis.

X-linked lymphoproliferative disease (XLP) is triggered by Epstein-Barr virus. This virus is also associated with Burkitt lymphoma, a tumor that carries specific chromosome translocations. No such chromosome translocations have been observed in an analysis of XLP-derived cell lines. One XLP patient was found also to have Klinefelter syndrome, having inherited two copies of his maternal XLP-carrying X chromosome.

Cell Line↗

Cultured epithelial cells derived from human foetal pancreas as a model for the study of cystic fibrosis: further analyses on the origins and nature of the cell types.

The establishment of a tissue-culture system for epithelial cells derived from human foetal pancreas has recently been reported. Further analyses have now been made on these cells in vitro, together with parallel investigation of the distribution of different cell types within the intact foetal pancreas. Results support the view that the cultured cells are ductal in origin and nature. Pancreatic epithelial cell cultures have also been established from foetuses with cystic fibrosis.

Cells, Cultured↗

Potential advances in combination chemotherapy for advanced testicular cancer.

An interim analysis of the current EORTC studies in advanced testicular cancer indicates that (a) for low volume metastatic disease the addition of bleomycin (B) to etoposide (E) and cisplatinum (P) may not be necessary, and (b) for high volume metastatic disease the alternating schedule of PVB/BEP is not superior to treatment with BEP. Future studies will subdivide patients into 3 groups. Those with low volume metastatic disease will receive EP using 2 dose schedules for cisplatin. Those with high volume metastases will receive either BEP or etoposide, ifosfamide and cisplatinum (VIP). Those with ultra-high volume metastases will receive BOP/VIP, possibly randomised against another intensive chemotherapy schedule.

Antineoplastic Combined Chemotherapy Protocols↗

A dynamic test to investigate potential tissue plasminogen activator activity. Comparison of deamino-8-D-argininevasopressin with venous occlusion in normal subjects and patients.

Fibrinolysis dependent on the release of tissue plasminogen activator (t-PA) can only be explored after stimulation eliciting the release of t-PA from endothelial cells. The choice of the stimulus and test assay is of utmost importance in discriminating patients at risk for persistent thrombosis and in identifying acquired or genetic abnormalities of t-PA synthesis or release from endothelial cells in pathologic conditions. The present study was designed to compare the efficacy and reproducibility of the fibrinolytic response to desmopressin acetate (deamino-8-D-argininevasopressin) (DDAVP) by use of various routes of administration with the response to the venous occlusion test. Nine healthy male volunteers were randomly administered intravenous desmopressin acetate, intranasal drops and intranasal spray. The results from tests of euglobulin lysis time, t-PA activity, t-PA antigen levels, and t-PA fast-acting inhibitor (plasminogen activator inhibitor [PAI]) level were compared with those obtained after venous occlusion. The only test that elicited the release of free t-PA activity in the circulation in all volunteers was the intravenous administration of 0.4 microgram/kg desmopressin acetate, and the most reliable test assay was t-PA activity measured in the euglobulin fraction of plasma. Intravenous desmopressin acetate induced the release of large amounts of t-PA in most cases and caused a significant fall in PAI. Other routes of administration of desmopressin acetate, along with venous occlusion, identified many nonresponders who proved to be false negative. The relevance of these data was demonstrated in a study in nine patients with thromboembolic phenomenon or related disorders.(ABSTRACT TRUNCATED AT 250 WORDS)

Administration, Intranasal↗

Autonomic neuropathy after rubella infection.

A woman with autonomic neuropathy after rubella infection is described. She had features of both sympathetic and parasympathetic impairment, the major problems being postural hypotension, abdominal and parotid pain, and fatigue. Autonomic dysfunction persisted 38 months after the rubella infection with minimal response to treatment. The literature relating to autonomic neuropathy is reviewed, and the similarities of this patient's condition to the Guillain-Barré syndrome are discussed.

Abdomen↗

Focal epithelial hyperplasia: a survey of two isolated communities in the Cape Province of South Africa.

The aims of this study were to determine the distribution of focal epithelial hyperplasia (FEH) among Cape Coloured communities, and whether a family connection could be traced. Two isolated communities near Cape Town were selected and it was attempted to examine as many population members as possible. After it was established that one community had a comparatively high prevalence of FEH, a second visit was undertaken to determine whether a familial distribution existed. Six hundred and fifty-six people and 130 households were examined in the above community and 486 people in the second. The median ages of the two communities were 18.6 and 18.4 yr respectively. Both age and sex distributions of the two populations did not differ significantly. A significant difference in the prevalence of FEH was found between the two communities. Ninety-seven cases (14.8%) were diagnosed in the first and 21 cases (4.3%) in the second community (P less than 0.05). FEH occurred in all age groups and both sexes. Lesions occurred mostly on the mucosae of the lower and upper lips and in the gingiva. No definite familial distribution could be established.

Adolescent↗

The feeling of hunger.

Hunger symptoms were assessed in two groups of normal subjects at a variety of times of day. The data showed that relatively few symptoms were endorsed even after longer deprivation periods, and they confirmed other experimental results suggesting that there is no strong and characteristic pattern of hunger symptoms. It is suggested that any notions of disturbed hunger sensations in patients with eating disorders must be evaluated carefully.

Feeding and Eating Disorders↗

Subcutaneous and intranasal administration of 1-deamino-8-d-arginine vasopressin in the assessment of renal concentration capacity.

Maximum urine concentration capacity was studied in healthy adults using different routes and doses of administration of 1-deamino-8-d-arginine vasopressin (DDAVP)-desmopressin. Plasma levels of DDAVP showed a dose-dependent increase after the subcutaneous but not after the intranasal administration. The effect on urine osmolality was similar but more prolonged after the subcutaneous as compared to the intranasal route. We conclude that subcutaneous injection is a simple and reliable way of administering DDAVP. A dose of 4 micrograms in adults is optimum diagnostically and it corresponds to 20-40 micrograms administered intranasally.

Administration, Intranasal↗

Evoked response potentials and regional cerebral blood flow in somatization disorder.

Somatization disorder (SMD) is a chronic condition characterized by multiple complaints which are not due to any apparent organic illness but frequently involve pain. This study employs computer-aided imaging technologies to examine brain function in thousandths of a second (event-related brain potentials) and over a number of minutes (regional cerebral blood flow). Fourteen patients with SMD and 14 normal controls were investigated. Results from both studies suggest that patients with SMD have a dysfunction in the processes of attention, compared to normal controls.

Adult↗

Establishment of a tissue culture system for epithelial cells derived from human pancreas: a model for the study of cystic fibrosis.

A tissue culture system for epithelial cells derived from human foetal pancreas has been established. The cultured cells show many ultrastructural features of interlobular duct cells. Immunocytochemical and histochemical evidence is presented in support of the view that these cells are ductal in origin. They are likely to be one of the few cell types that express the basic defect of cystic fibrosis in vitro. The cells may be passaged and sufficient material obtained to permit biochemical and molecular biological analysis.

Cells, Cultured↗