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Biomedical subjects

R Bernstein

Publications and source records attributed to R Bernstein.

At least 163 records · Page 9Linked to original sources
PubMed1978

Fanconi's anaemia, with special reference to erythrokinetic features.

Serial haematological investigations were carried out in 5 patients with Fanconi's anaemia over periods of 6 months--11 years. All the patients were pancytopenic with a depression of the granulocytic and megakaryocytic elements of the bone marrow throughout the greater part of their illnesses. Erythropoietic acitvity was variable. The initial bone marrow examination revealed depressed erythroid function in 3 patients. The erythroid hypoplasia persisted in 2 of them, while in the third, erythroid activity increased with time, possibly as the result of therapy with oxymetholone. Erythroid hyperplasia was present in the remaining 2 patients, both at presentation and throughout the course of the illness. This could not be attributed to treatment in either patient. Six erythrokinetic studies were carried out in the 5 patients at variable intervals after the diagnosis had been made. In 2 studies erythroid activity was unequivocally depressed, while in a further 3 a significant, though probably suboptimal, erythroid marrow response was present. In the final study erythropoiesis was increased but was markedly ineffective in terms of the delivery of viable red cells into the circulation. In vivo counting suggested that some degree of ineffective erythropoiesis was also present in the other patients and studies with 51Cr indicated a shortened red cell survival in all subjects studied. In 2 of them significant splenic sequestration was present. Leukaemic transformation occurred in 2 patients. In 1 of them its development was heralded by the appearance of micromegakaryocytes in the bone marrow.

Adolescent↗
PubMed1978

Significance of detection of extra metacentric microchromosome in amniotic cell culture.

A metacentric bisatellited microchromosome was detected in all metaphases from an amniotic culture performed because of maternal age. A wide-ranging survey of the literature failed to disclose any consistent anomaly associated with such a marker, but did reveal that the clinical picture of patients manifesting it could range from complete normality through mental retardation to a variety of deformities. The parents elected for termination, and the only deformity detected in the abortus was fixed talipes equinovarus. The implications of the finding of this marker chromosome on amniocentesis, believed to be reported for the first time here, are discussed particularly in the context of genetic counselling.

Adult↗
PubMed1978

Translocation of chromosome 4 and 9 with ring formation of chromosome 4 short arm.

Cytogenetic investigation of a 3-year-old mentally retarded boy revealed a translocation of the long arm of chromosome 4 onto the short arm of chromosome 9, with ring formation of the remaining short arm of chromosome 4. The clinical features are described and correlated with the cytogenetic findings. The behaviour of the ring derived from a deleted chromosome 4 is discussed.

Child, Preschool↗
PubMed1978

X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies.

Cytogenetic studies on a mentally retarded boy revealed an X-Y translocation, karyotype 46,X,t(X;Y)(p22;q11). Only 5 other such cases have been reported and these were all females. The unequivocal male phenotype suggested non-random inactivation of the normal maternally derived X chromosome, and that the non-inactivated X-Y translocation chromosome included the locus for male determination. Confirmation of this was provided by unassociated X and Y chromatin in interphase cells, as well as by reverse banding after BrdU incorporation and autoradiography of metaphase chromosomes. There was anomalous Xg blood group inheritance in the proband, indicating possible localisation of the Xg locus to the terminal portion of the X short arm. Linkage of Xg and a form of X-linked mental retardation is suggested. Close linkage of the Xg locus with the loci for alpha-galactosidase, phosphoglycerate kinase, G-6-PD, and MPS II was excluded.

Blood Group Antigens↗
PubMed1977

An XXYY male presenting with aggression: a case report.

An abnormally tall 21-year-old Caucasoid male was referred for psychiatric assessment for pathological aggression and mental subnormality. He showed many of the phenotypic features of Klinefelter's syndrome. Cytogenetic studies revealed a 48,XXYY karyotype. The significance of the association of this karyotype with aggressive behaviour is discussed.

Adult↗
PubMed1976

Pure red cell aplasia.

The presentation and clinical course of pure red cell aplasia in 5 patients are described. In 3 of them no concomitant diseases were present, in 1 the condition was associated with the presence of a thymoma, and the remaining patient was suffering from a lymphocytic lymphoma. Pregnancy led to a recurrence of the disorder in 2 patients. The fact that 4 of the patients exhibited unequivocal evidence of other auto-immune disturbances adds further support to the concept that pure red cell aplasia itself has an auto-immune basis.

Adolescent↗
PubMed1976

Acute blastic transformation in patients with chronic granulocytic leukaemia and myelofibrosis.

A retrospective study of 21 patients with acute transformation of chronic granulocytic leukaemia (CGL) and myelofibrosis was undertaken. The patients were divided into 3 groups according to whether transformation had occurred in pre-existing CGL (11 patients), myelofibrosis (6 patients) or in patients who presented with acute leukaemia and significant marrow fibrosis--acute myelofibrosis (4 patients). In an attempt to investigate some recent reports that during the acute blastic crisis there is conversion to the haemopoietic stem cell, the morphology of the blast cell and the response to therapy were assessed. The blast cell morphology was reviewed in 17 of the 21 patients studied. Three patients had blast cells which morphologically resembled lymphoblasts. The mortality in these patients was similar to that in patients in whom the blast cell morphology was myeloblastic. The response to treatment in the acute phase was poor. However, some patients who received therapy with thioguanine, daunorubicin, cytosine arabinoside, methotrexate, prednisone, cyclophosphamide and vincristine (TRAMPCO) appeared to do better. in most patients, splenectomy was performed for advanced diseases. Acute blastic transformation supervened within 4 months in 3 of 4 patients with CGL who underwent splenectomy. In 3 of 5 patients with myelofibrosis, splenectomy was followed by an increase of primitive cells in the peripheral blood and rapid liver enlargement. Although they had improved symptomatically the patients died within 10 months of the splenectomy. The indications for and timing of splenectomy remain controversial.

Acute Disease↗
PubMed1976

Nonketotic diabetes mellitus: insulin deficiency or insulin resistance?

Ninety-five nonobese, nonketotic subjects were divided into five groups (one normal and four with varying degrees of glucose intolerance) according to their plasma glucose responses during an oral glucose tolerance test. These five groups were then compared on the basis of their insulin response during the oral glucose tolerance test and on the ability of exogenously infused insulin to limit hyperglycemia during a continuous infusion of glucose and insulin, while endogenous insulin was inhibited by the infusion of epinephrine and propranolol. The mean plasma insulin response of patients with either borderline abnormalities of glucose tolerance or chemical diabetes was equal to or greater than that of normal subjects at all points during the glucose tolerance test. Thus, the glucose tolerance of these two patient groups cannot be attributed to lack of insulin. On the other hand, the mean insulin response of patients with moderate fasting hyperglycemia (plasma glucose of 110 to 150 mg/100 ml) was somewhat attenuated, and patients with severe fasting hyperglycemia (plasma glucose greater than 150 mg/100 ml) had unequivocal insulin deficiency. In contrast, all four patient groups with abnormal carbohydrate metabolism were more resistant than normal subjects to the action of insulin. These results indicate that there is a very complex relationship between insulin deficiency and insulin resistance in patients currently classified as having nonketotic diabetes. Patients with either borderline abnormal glucose tolerance or chemical diabetes are more resistant to insulin than normal subjects, and are not insulin deficient. In these patients it seems reasonable to assume that their glucose intolerance is a direct function of their insulin resistance. Patients with severe fasting hyperglycemia are suffering from both insulin deficiency and insulin resistance, and the relationship between these two variables in the genesis of hyperglycemia in these subjects remains obscure. It seems apparent from these studies that nonketotic diabetes mellitus can no longer be considered to be a simple function of insulin lack, and that in order to understand this syndrome we will need to increase our knowledge of the relationship between insulin deficiency and insulin resistance in these patients.

Adult↗
PubMed1975

Thyroid function during erythrosine ingestion in doses encountered in therapy with conventional antibiotics.

Six euthyroid patients without clinical or biochemical evidence of any renal or thyroid disorder received a diet of fixed composition. They were given no drugs. Urine was collected quantitatively throughout the whole investigation for determination of iodine and creatinine. After 5 days on diet they received 1.91 mumol of erythrosine, corresponding to approximately 7.88 mumol of iodine daily for 10 days. Thyroidal radioiodine studies were performed, levels of plasma inorganic iodine were calculated, and thyroxine, protein-bound iodine, and total iodine in serum were determined before and during erythrosine ingestion. A statistically significant increase in plasma inorganic iodine or in urinary iodine excretion was not found. The other test results of thyroid function remained virtually unchanged. Based on clinical aspects of thyroidal iodine metabolism we conclude that at most 7.8 per cent of the iodine content of the ingested erythrosine could have supplemented the iodine space.

Adult↗
PubMed1975

Vasodilatory drugs in the management of nonocclusive bowel ischemia.

A patient with a clinical and angiographic diagnosis of nonocclusive mesenteric ischemia had phenoxybenzamine directly infused into the superior mesenteric artery to counteract the existing splanchnic vasoconstriction. The diagnosis was confirmed by later operative intervention and the patient recovered. Vasodilatory drugs may play a significant role in the management of patients with nonocclusive mesenteric ischemia.

Aged↗