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Biomedical subjects

A Robinson

Publications and source records attributed to A Robinson.

At least 469 records · Page 26Linked to original sources
PubMed1979

Chromosomal mosaicism in amniotic fluid cell cultures.

Over the past 6 years, using in situ processing methods, we have identified 32 cases of mosaicism in amniotic fluid cell cultures prepared from 1,100 samples. Two of these (45,X/46,XX and 46,XX/47,XX, + 21) were called true mosaics because multiple colonies demonstrated the same abnormal chromosome complement, and on subsequent evaluation of the newborn blood or fetal tissues, mosaicism was confirmed. Of the remaining cases, 29 were designated as pseudomosaics because only single or partial colonies exhibited an aberrant chromosome complement, 12 having a trisomy 2 line. In the final case, a double trisomy was demonstrated in only one of eight colonies in the first culture, but in the culture from a repeat sample an additional two colonies showed the same double trisomy. Since no abnormal cells were observed in infant blood, it was postulated that the mosaicism may only have been present in the extraembryonic tissues. It is our conviction that the use of these cloning methods should diminish the danger of misdiagnosis in genetic amniocentesis.

Amniotic Fluid↗
PubMed1978

The effect of 5-hydroxytryptamine and epinephrine on newborn platelets.

Blood levels of 5-hydroxytryptamine (5-HT) and epinephrine are increased in conditions such as severe hypoxia, and hypovolemic or septic shock. The effect of these agents, which influence the blood coagulation system, were studied in vitro on platelets from newborns. 5-HT was determined in platelets from 18 newborns and 28 adults. The 5-HT content was 0.305 +/- 0.144 microgram/10(9) platelets in newborns and 0.675 +/- 0.212 microgram/10(9) platelets in the adult controls, a difference which is statistically significant (P less than 0.001). The 5-HT content of newborn platelets proved to be higher than that reported in the literature. Further studies on platelet aggregation due to 5-HT and epinephrine were then carried out. These demonstrated first-phase aggregation in 40% of cases when both 5-HT and epinephrine were applied simultaneously, while in the majority of the newborns no reaction was encountered when each of these substances was applied separately. However, in 2 cases, simultaneous application of 5-HT and epinephrine produced both first- and second-phase platelet aggregation. The reduced response of the platelets in the newborn to these aggregating agents can be considered as a protection against disseminated intravascular coagulation (DIC), particularly in high-risk situations.

Blood Platelets↗
PubMed1978

Multiple leukemic clones in acute leukemia of childhood.

Two abnormal karyotypes representing clonal populations have been demonstrated in three patients in the early stage of acute leukemia. The karyotypes were apparently unrelated in one patient, while in the other two, a relationship was conjectured. Both clones were present before therapy in two patients. Although a clone resistant to therapy was associated with relapse in one case, in two cases a clone has persisted in the lymphocyte culture during drug treatment with the patients in remission.

Child↗
PubMed1978

Non-leukemic dividing cells in the blood of leukemic patients.

Spontaneous mitoses in the blood of 67 patients with acute leukemia were enumerated and their identity determined by cytogenetic methods. Most patients were children with acute lymphoblastic leukemia. Simultaneous 16- to 20-hour cultures of blood leukocytes (Bu) and of bone marrow (BM) cells were performed without phytohemagglutinin (PHA). Blood leukocytes were also cultured with PHA for 72 hours (BPHA). Mitoses in Bu cultures were counted, and karyotypic analysis performed on cells from the three culture types. In 21 control subjects, Bu cultures usually yielded no mitoses. Relapse and remission patients both displayed significantly more Bu mitoses than the controls. The karyotypes of Bu, BPHA, and BM mitoses in remission patients were normal. Fifty percent of relapse patients displayed cytogenetically abnormal leukemia cell lines; the percentage of their abnormal karyotypes was significantly higher in BM cells than in Bu or BPHA cells. The majority of the mitotic cells in Bu cultures from both relapse and remission patients appear to be of a nonleukemic origin. The number of mitoses could not be correlated with type of leukemia, hematologic parameters, or prognosis.

Adult↗
PubMed1978

An unusual neurological disorder of copper metabolism clinically resembling Wilson's disease but biochemically a distinct entity.

A patient with progressive neurological disease resembling Wilson's disease but in whom Kayser-Fleischer rings were absent, was given 67Cu and 64Cu, orally and intravenously, to measure the rate of absorption of copper using a convolution integral. The data show an abnormal distribution of body copper resulting in low copper concentrations in plasma, urine and liver but with an accumulation in the lower bowel probably due to a defect in mucosal transport. The importance of differentiating this condition from Wilson's disease is stressed.

Adolescent↗
PubMed1978

Calcific tendinitis of the neck.

When a calcific deposit in the shoulder, hip or elbow ruptures, it results in severe pain and tenderness. Few clinicians are aware that the longus colli muscle of the neck is also subject to acute tendinitis. When it occurs, the pain and spasm mimic infectious spondylitis or meningitis. Four patients are presented with acute tendinitis of the longus colli muscle and the classic radiographic findings of soft-tissue swelling and amorphous calcium deposits in the tendon.

Adult↗
PubMed1978

Limitations of fibre-optic bronchoscopy under fluoroscopy in the investigation of peripheral lung lesions.

Transbronchial lung biopsy under fluoroscopic guidance was attempted in 14 patients with discrete peripheral lesions and histological evidence of pathology was obtained in five (37.7%). The difficulties and limitations of the procedure are discussed. The radiation hazard to both patient and bronchoscope are assessed. From this study it is concluded that aspiration needle biopsy is preferred in the investigation of patients with peripheral lung lesions.

Adult↗
PubMed1978

Effects of diazepam on phobic avoidance behavior and phobic anxiety.

The efficacy of diazepam for controlling phobic avoidance behavior and phobic anxiety and the potential usefulness of the behavioral approach measure for screening new antianxiety drugs was investigated in a double-blind study. The distance from the phobic object beyond which the subject would not approach and a rating of subjective anxiety at closest approach were made in 14 phobic patients immediately before and again 2 hr after 10-mg oral diazepam or placebo. Behavioral approach to the object was increased and subjective anxiety was decreased by diazepam as compared to placebo. The method appeared useful for early clinical screening of new drugs because it discriminated drug from placebo in a single short session using small groups and because it employed a more objective dependent measure than self-report of subjective feeling states.

Adult↗
PubMed1978

Prenatal genetic diagnosis: nine years experience.

The advent of techniques for the prenatal diagnosis of disease represents one of the most important advances in clinical genetics of the past decade. It has made it increasingly possible for parents to make informed decisions about reproduction. Physicians should think of genetic amniocentesis as one more method of assessing the status of a fetus at risk. It should be undertaken for a medical indication only, but the safety and accuracy are sufficiently established for it to be considered an integral part of providing high risk obstetrical care.

Adult↗
PubMed1977

Trisomy clusters.

Explore the source record for details and available documents.

Colorado↗
PubMed1977

Karyotyping of bone-marrow cells in hematologic diseases.

Cultures of bone-marrow cells incubated for 5 h at 4 degrees had cells in metaphase with elongated chromosomes which were easily Giemsa banded. Colcemid was not necessary for metaphase arrest at this temperature. This technique made possible routine karyotyping of patients with leukemia and other hematological diseases in which the detection of aberrations was otherwise difficult.

Bone Marrow↗
PubMed1977

Three-generation pedigree of a Möbius syndrome variant with chromosome translocation.

We report the clinical and cytogenetic data on seven members of a family, spaning three generations, who showed congenital facial diplegia and finger contractures. Each affected member showed an identical chromosome abnormality, reciprocal translocation between chromosome 1 and 13. The concurrence of the clinical and cytogenetic defect in this family suggests a direct and possibly etiologic relationship.

Adult↗