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Biomedical subjects

J Philip

Publications and source records attributed to J Philip.

At least 181 records · Page 10Linked to original sources
PubMed1978

Successful nonsibling bone marrow transplantation in severe combined immunodeficiency.

Severe combined immunodeficiency (SCID) was diagnosed in a girl immediately after birth; her older brother had SCID and was successfully reconstituted by bone marrow transplantation from his uncle. She was isolated in a laminar air flow bench and decontaminated. The father differed by one HLA-A antigen but was HLA-Dw2 homozygous like the patient; his lymphocytes showed a slight response to the patient's cells in mixed lymphocyte culture (MLC). At the age of 2 1/2 months and again at 5 months, she was given a bone marrow transplant from the father. During the entire course the patient had no infections, and apart from a transient eosinophilia she had no signs of graft-versus-host reaction. Immunological reconstitution was nearly complete at 9 months of age, when she was recontaminated. One year later plasma immunoglobulin concentrations are in the low normal range (IgG and IgM) or decreased (IgA); tests of cell-mediated immunity are normal. Apart from slight upper respiratory infections, the patient has been healthy. Physical and psychological development have been normal.

Bone Marrow Transplantation↗
PubMed1978

ABO and Rh phenotyping of foetal blood obtained by foetoscopy.

Blood samples taken from the foetus by foetoscopy early in the 2nd trimester of pregnancy can be used for reliable blood grouping. However, the sampling technique is not perfect. In 5 out of 15 pregnant women, no foetal blood was obtained, although between 1 and 10 samples were taken on each occasion. One-third of 56 samples from the 10 women contained foetal blood. Contamination of samples with amniotic fluid varied, but did not interfere with the blood grouping. ABO and Rh typing of the foetus was possible even if the samples were contaminated with large amounts of maternal blood. In nine cases, blood grouping of the foetus was performed on red cells from foetoscopy samples. Control blood samples from the foetus following abortion were obtained in seven of these cases, and the foetoscopic results were confirmed.

ABO Blood-Group System↗
PubMed1978

Stimulation of amniotic fluid cells by fibroblast growth factor.

Amniotic fluid cells were grown in modified Dulbecco's medium with and without the following additives in different combinations: fibroblast growth factor (FGF), dexamethasone (DME), insulin and cyclic GMP under controlled conditions. Experiments were also conducted with varying amounts of foetal calf serum and FGF to establish optimum levels. Comparative growth, determined by measuring 3H-thymidine uptake, showed that the combination of FGF, DME and insulin in medium with 20% foetal calf serum produced the highest growth rate. These experiments indicate that the culture time of amniotic fluid cells for chromosome studies could be reduced by 25%. FGF did not have any deleterious effect on the chromosomes.

Amniotic Fluid↗
PubMed1978

Serum-testosterone during oral administration of testosterone in hypogonadal men and transsexual women.

Testosterone tablets of crystal size 2-5 micrometer were administered orally for 10 dags to 3 human subjects with low endogenous serum testosterone (se-T) levels. Fifty mg testosterone increased se-T slightly, while one daily dose of 200 mg maintained the se-T level within normal range for men for more than 12h. No cumulative effect was seen. Seven further subjects with low androgen production ingested 100 or 200 mg testosterone of crystal size 125-400 micrometer. Blood samples were taken frequently during the 24 h period following administration of the testosterone and se-T levels determined. Testosterone levels in serum increased in 6 patients and was maintained within the normal male range for 5-7 h. In one subject a slight but significant increase in se-T was observed although the level did not reach the normal male range. Although it has been shown that it is possible to use orally administered testosterone to maintain se-T levels in the normal male range, the convenience to the patient must be balanced against the cost and possible side effects of the large doses required.

Administration, Oral↗
PubMed1978

Oestrogen treatment and subsequent pregnancy in two patients with severe hypergonadotrophic ovarian failure.

This report describes in detail the histological and hormonal findings in a patient with Turner's syndrome (45,XO) and a patient with premature menopause (46,XX), who both conceived after withdrawal or reduction of substitution therapy with oestrogens. The aetiology of severe hypergonadotrophic ovarian failure is discussed, and theories regarding a possible relationship between the oestrogen treatment and subsequent pregnancy are hypothesized.

Adult↗
PubMed1977

Should the indications for prenatal chromosome analysis be changed?

Amniocentesis for chromosome analysis was performed in 1086 pergnant women, 739 of whom had an increased risk of giving birth to a child with chromosome abnormalities. Such abnormalities were found in almost identical proportions among the fetuses with an increased risk (1.2%) and among those with no increased risk (1.4%). Findings in several other studies seem to confirm that there is no significant difference between the risk groups in the proportion of abnormalities found. This suggests that our current risk groups may not be the right ones, but a much larger study is needed to confirm this.

Amniocentesis↗
PubMed1977

Isochromosome Yq in a woman with atypical Turner's syndrome.

A female with 46,X,i(Yq) in all cells and a survey of previous cases of isochromosome Yq is presented. She was first admitted to hospital 15 years old due to nanismus and retarded sexual development. Gonadal dysgenesia was observed, and the diagnosis 'atypical Turner's syndrome' was applied. The patient, who presents only a few Turner stigmata, has been given cyclic estrogen treatment since the age of 16. She has developed normal secondary sex characteristics, cyclic bleedings and has attained normal height (161 cm). Since the age of 18 the patient has suffered various periods of anemia caused by gastrointestinal hemorrhage. This hemorrhage is probably due to intestinal teleangiectasiae which are found with increased frequency in patients with Turner's syndrome.

Adult↗
PubMed1977

Administration of nitrous oxide in normal subjects. Evaluation of systems of gas delivery for their clinical use and hemodynamic effects.

Nitrous oxide (concentrations of 30 to 50%) was administered to 22 healthy volunteer subjects via nasal prongs, rebreathing mask, and an airlines mask to assess the efficiency of systems of delivery and the hemodynamic effects. The end-expired concentration of nitrous oxide, expressed as a percentage of the inspired concentration of nitrous oxide, was 19% for nasal prongs, 34% for the rebreathing mask, and 95% for the airlines mask (most accurate delivery). The pulse rate fell from a mean of 79+/-3 beats per minute to 67+/-2 with nasal prongs, to 64+/-2 with the rebreathing mask, and to 64+/-2 with the airlines mask. Both systolic and diastolic pressures fell from means of 122+/-4 and 74+/-2 mm Hg, respectively, to 98+/-3 mm Hg and 64+/-2 mm Hg, respectively, with the airlines apparatus. The fall in systolic blood pressure (slope, -0.79) exceeded that in the diastolic (slope, -0.35). In additional eight normal subjects, administration of 30% nitrous oxide via airlines mask produced identical changes in blood pressure and pulse rate, but there was no effect from 30 minutes of administration of 30% nitrous oxide on the end-systolic volume index, cardiac index, ejection fraction, normalized wall velocity determined echocardiographically, ejection time, or the ratio of preejection period to ejection time.

Adult↗
PubMed1977

Trisomy 8 syndrome. A psychological and somatic study of a mentally non-retarded male with 46,XY/47,XY,+8 chromosome constitution.

A 27-year-old, non-retarded male with trisomy 8 mosaicism (46,XY/47,XY,+8) had a short head, a short broad-bridged nose, a protruding upper lip, pterygium colli, moderate kypho-scoliosis, camptodactyly of all fingers and deep furrowing on the soles. Radiographic examination of columna showed spina bifida of L1 and fusion of L5 and S1. These findings are characteristic for the trisomy 8 syndrome. A psychological study showed a personality characterized by immaturity and lack of spontaneity and self-confidence. An intelligence test (WAIS) placed him within the normal range, but presented an uneven development of the cognitive functions with special difficulties in synthetic abilities and visual scanning. His auditive span was rather low, and his memory functions were somewhat below average.

Abnormalities, Multiple↗