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Biomedical subjects

R Bernstein

Publications and source records attributed to R Bernstein.

At least 19 recordsLinked to original sources
PubMed1992

Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y-chromosome marker, idic(Yp).

An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non-fluorescent marker. C-banding identified the marker as an isodicentric in 12 cells. In two cells, the non-fluorescent marker appeared to be monocentric and looked like a non-fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y-specific centromeric probe confirmed the Y-chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.

Adult↗
PubMed1992

Reliability of skin involvement measures in scleroderma. The UK Scleroderma Study Group.

Two methods have been proposed to quantify the extent of skin involvement in scleroderma. These are (1) a scoring system which quantifies and summates this severity rating in 17 areas of skin surface and (2) a method estimating the percentage of skin involvement using a shaded manikin. We report on a study comparing the inter-observer reliability of these two approaches using the ratings of six clinicians on 12 patients. Systematic bias between observers was noted with both methods, but inter-observer agreement, as-assessed by the intraclass correlation coefficient (ICC), was higher with the score method. The manikin method resulted in a greater degree of disagreement between the observers, as well as a higher amount of random error, reflecting the difficulty of defining the bounds of abnormal skin. Despite the presence of bias, the score method is the preferred method for assessing the level of skin involvement.

Analysis of Variance↗
PubMed1992

Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenita: possible X-linked inheritance.

We report a family with possible X-linked recessive HMSN I with minor signs of the disease and abnormal sensory conduction studies evident in female carriers. There is a previously undescribed association with aplasia cutis congenita in both affected males, and a history of a severe skull defect in a third male child, who died at birth. The latter defect usually shows an autosomal dominant pattern of inheritance.

Adolescent↗
PubMed1992

Reduction in size of a thyrotropin- and gonadotropin-secreting pituitary adenoma treated with octreotide acetate (somatostatin analog).

TSH as well as alpha-subunit, secretion has been shown to decrease after the administration of the somatostatin analog octreotide acetate (SMS 201-995). We have studied a 59-yr-old, male patient with a TSH- and gonadotropin-secreting tumor who, because of severe cardiomyopathy, was treated with long-term somatostatin analog rather than surgical resection of the pituitary tumor. Thirteen weeks of treatment with thrice daily sc injection of 100 micrograms octreotide acetate resulted in decreased TSH and alpha-subunit secretion, normal serum thyroid hormone levels, reduction in LH and testosterone level, and significant tumor size reduction. Long-term treatment for 51 weeks has not been associated with any significant side effects. We have shown that octreotide acetate may be a therapeutically valuable modality for certain patients with neoplastic inappropriate secretion of TSH (NIST). A probable effect of octreotide acetate on neoplastic gonadotropes, as evidenced by the reduction of the LH level with a concomitant decrease in testosterone level, is, likewise, suggested.

Adenoma↗
PubMed1991

Unrecognized stenosis by angiography documented by intravascular ultrasound imaging.

This report documents how intravascular ultrasound imaging was used to diagnose a short "napkin-ring" stenosis that was missed by coronary angiography. Intravascular ultrasound revealed a lumen of 2.6 x 2.5 mm in diameter and 5.0 mm2 in cross-sectional area, with a residual atheroma that occluded 63% of available cross-sectional area at the stenosis.

Angiography↗
PubMed1991

Cardiac left ventricular function before and during early thyroxine treatment in severe hypothyroidism.

In some patients with severe hypothyroidism, thyroxine replacement therapy precipitates or aggravates angina pectoris, whereas in other patients angina pectoris is ameliorated or even cured. Cardiac function in eight severely hypothyroid patients was studied by means of radionuclide ventriculography (RNV) at rest and during supine bicycle exercise before thyroxine treatment, and repeated during treatment before and after administration of 160 mg of oral verapamil. There was an exercise-induced fall in left ventricular ejection fraction (LVEF) in two patients before therapy, and in two additional subjects after 17 d on suboptimal doses of thyroxine. Verapamil attenuated the fall and induced a significant increase in LVEF during exercise (P less than 0.014). No abnormal regional cardiac wall movement (RWM) was observed. After 2 months of thyroxine treatment, LVEF increased significantly during exercise both before and after verapamil (P less than 0.012 and P less than 0.005). These findings are indicative of reversible coronary artery dysfunction. We recommend that, if feasible, thyroxine should be supplemented with verapamil during the early phase of treatment.

Adult↗
PubMed1991

Importance of accurate diagnosis in counseling for neural tube defects diagnosed prenatally.

In cases of fetal neural tube defects (NTD), termination of pregnancy without ascertainment of specific etiology may lead to provision of incorrect recurrence risks and erroneous diagnosis in future pregnancies. Four patients are presented who illustrate the etiologic diversity of neural tube defects. The patients were referred for prenatal diagnosis because of elevated maternal serum alphafetoprotein (AFP). All four chose pregnancy termination. Diagnostic methods included fetal ultrasound, amniocentesis for fetal karyotyping and amniotic fluid AFP/acetylcholinesterase (AChE) and/or fetal karyotyping after delivery, and dysmorphology evaluation of the fetus after intact delivery. These cases highlight the benefits of fetal karyotype analysis and of an intact delivery and thorough clinical examination of the fetus when patients choose to terminate pregnancies with fetal anomalies.

Abnormalities, Multiple↗
PubMed1991

A perception of the rural health situation in central Texas: we need regionalization.

Central Texas, considered representative of the state, has experienced closure of many of its rural hospitals and the loss of many practicing physicians in rural areas. The reasons for these losses are complex. One important reason is that rural hospitals and physicians do not compete successfully against urban hospitals and their specialty staffs. We suggest that rural practice areas can be made attractive to physicians and that rural communities can be provided access to health care through a system of regionalization. Rural and urban physicians can collaborate in providing health care by using rural health clinics and small hospitals centered on urban referral hospitals that serve as the hub for each system.

Hospital Planning↗
PubMed1990

Absence of isochromosome 12p in a pineal region malignant germ cell tumor.

We report the first cytogenetic investigation of a rare pineal region mixed germ cell tumor. The mean modal number was 78. Multiple numerical and structural abnormalities were noted. Chromosomes 21 and 1q were consistently overrepresented, and chromosome 13 was underrepresented. A translocation involving chromosome 11 occurred in all metaphases examined. The Y chromosome was lost, and three copies of the X chromosome were present. No isochromosome 12p was identified, but four copies of chromosome 12 were present.

Adolescent↗
PubMed1990

Fanconi anemia in black African children.

Fanconi anemia (FA) has rarely been reported in black children either in the United States or Africa. This report describes 25 black African children with FA seen in Johannesburg over an 11-year period. The prevalence of homozygotes was estimated to be 1:476,000. Clinical manifestations, mean age at diagnosis, and hematologic and chromosome abnormalities were similar to those described in other ethnic groups. Response to androgens was poor and most patients required regular transfusions. Seventeen (68%) of the children died during the 11-year observation period. Leukemia was the terminal event in 2 patients. The mean age at death was 9.8 years and the mean time between diagnosis and death 2.3 years. The poor response to androgens, high mortality, and early mean age at death would favor consideration of early bone marrow transplantation in these children.

Africa, Southern↗
PubMed1990

Chromosomal evolution in secretory and nonsecretory subline of MOPC 21.

Murine myeloma cell lines are noted for the instability of their immunoglobulin genes and the production of nonsynthesizing variants. In this study, the synthesizing line P3-X63-Ag8 (P3) and its nonsynthesizing subline X63-Ag8-653 (653) were karyotyped and rearrangements of the immunoglobulin carrying chromosomes were investigated. Loss of immunoglobulin synthesis was associated with a reduction in the number of immunoglobulin-carrying chromosomes. When these findings were analyzed in light of published molecular data, it appeared that loss of immunoglobulin synthesis in 653 probably occurred as a result of immunoglobulin gene loss. An unusual finding was the absence of the t(12;15) chromosome in both P3 and 653 cell lines. It was concluded that the t(12;15) chromosome, carried by MOPC 21, has evolved into an unrecognizable form.

Animals↗
PubMed1990

Do chromosome abnormalities determine the type of acute leukemia that develops in CML?

Chronic myelogenous leukemia (CML) is characterized by two distinct phases--chronic and acute. Features of the chronic phase include proliferation and accumulation of mature myeloid cells and their progenitors; differentiation is seemingly intact. In contrast, the acute phase is characterized by impaired differentiation. Acute phase is heterogeneous--granulocytes, lymphocytes, megakaryocytes, and erythroid cells are involved singly or in combination. The t(9;22) translocation, which results in the Ph1 chromosome, is the hallmark of chronic phase CML. Transition to acute phase is often accompanied by additional chromosome abnormalities. Here we suggest that these additional abnormalities determine the phenotype of acute phase CML.

Chromosome Aberrations↗
PubMed1989

A decade of mid-trimester amniocentesis in Johannesburg. Prenatal diagnosis, problems and counselling.

Selected data from 4,554 cases of amniocentesis performed in Johannesburg over a decade are presented. The demand for the service increased fivefold over the 10 years. The indications were: chromosome defects (83%), neural tube defects (11%), other disorders (4%) and parental anxiety (2%). A correct prenatal diagnosis was made in 99.9% of cases and sexing was correct in 99.6% of cases. Abnormalities were detected in 3.2% of pregnancies. The rate of 'spontaneous' abortion within 1 week after amniocentesis was 0.7%, and the total 16-28-week fetal loss rate is not much increased over the risk for such an event in any second-trimester pregnancy. The procedure has become a safe and a successful one in expert hands.

Abortion, Incomplete↗
PubMed1989

First trimester prenatal diagnosis by chorionic villus sampling. The Johannesburg experience with 48 cases.

Chorionic villus sampling (CVS) is a first trimester alternative to amniocentesis for the prenatal detection of genetic disorders. Initial experience in 48 patients, in whom transcervical CVS was utilised for the diagnosis of chromosomal, biochemical or molecular disorders, is reported. An adequate villus sample was obtained in all cases and a diagnostic result was achieved in 90% of cases. In this series, the miscarriage rate was 4.2%. It is concluded that CVS appears to be a relatively safe and reliable procedure, but the risk of miscarriage can only be accurately assessed after further investigation.

Chorionic Villi Sampling↗
PubMed1989

Loss of the Y chromosome associated with translocation t(6;9)(p23;q34) in a patient with acute nonlymphocytic leukemia.

A 34-year-old male with acute nonlymphocytic leukemia (ANLL) and a t(6;9)(p23;q34) is described, in whom loss of the Y chromosome had occurred in the t(6;9) clone. The leukemic blasts were relatively undifferentiated and there was no increase in marrow basophils. The unusual clonal evolution and hematologic features in this patient are compared to 27 previously documented cases with this translocation.

Adult↗