Polymerase chain reaction detection of immunoglobulin gene rearrangement and bcl-2 translocation in archival glass slides of cytologic material.

Cytologic evaluation of lymph node fine-needle aspirates and serous effusions is a rapid and useful means for establishing the diagnosis of a variety of lymphoproliferative disorders. However, in some instances, cytologic findings are not sufficient to establish a diagnosis of lymphoma, thus necessitating the use of ancillary procedures, the most frequent of which is immunophenotyping. In this respect, the usefulness of molecular markers, such as clonal immunoglobulin gene rearrangements or chromosomal translocations, have been less well evaluated.

Ras oncogene activation during hepatocarcinogenesis in B6C3F1 male mice by dichloroacetic and trichloroacetic acids.

Dichloroacetic (DCA) and trichloroacetic (TCA) acids, two major by-products formed during chlorine disinfection of drinking water, increase the incidence of tumors in B6C3F1 mice by 6- and 3-fold respectively. In order to understand better the mechanism by which these two compounds induce liver tumors, the incidence and spectrum of mutations in the K- and H-ras proto-oncogenes in these tumors were analyzed. DNA from spontaneous, DCA- and TCA-induced liver tumor from B6C3F1 male mice was evaluated for point mutations in exons 1, 2 and 3 of the two genes by single-stranded conformation polymorphism.

Comparison of PCR with southern hybridization for the routine detection of immunoglobulin heavy chain gene rearrangements.

The development of a reliable polymerase chain reaction (PCR) technique for the routine detection of clonal immunoglobulin heavy chain (IgH) gene rearrangements would represent an attractive alternative to Southern hybridization analysis because of the relative simplicity of PCR protocols, and because the requirements for both quality and quantity of DNA would be considerably less stringent. To assess the utility of PCR for the routine detection of clonal IgH gene rearrangements, samples from 123 adult patients were evaluated and analysis by PCR amplification using IgH Framework 1 or Framework 3 variable region consensus primers was compared with analysis by restriction endonuclease digestion and Southern hybridization with genomic, IgH probes. The authors found that 90% of IgH genes found to be rearranged by Southern hybridization are detected by the PCR technique.

HIV serosurveillance of newborns. A clinician's perspective on legislative, political, and ethical issues.

This article reviews the complex issues surrounding the anonymous HIV testing of newborns to monitor the prevalence of HIV infection in women of childbearing age. This serosurveillance of newborns has become a topic of legislative debate focusing on disclosure of currently anonymous results of HIV antibody tests of newborns, thus revealing the serostatus of the mother. This, in effect, would mandatorily test women without their consent.

Exencephaly in autosomal dominant brachydactyly syndrome.

Exencephaly was diagnosed at 17 weeks in a 27-year-old primigravida with abnormalities of the hands and a family history suggestive of autosomal dominant brachydactyly and clinodactyly. In this family there was also a history of 'anencephaly'. To our knowledge, this is the first report on the association of exencephaly and autosomal dominant brachydactyly.

Prognostic significance of p53 overexpression in endometrial cancer.

Abnormalities of p53, a tumor suppressor gene, have been considered to play an important role in tumorigenesis. Clinically, overexpression of p53 has been reported to correlate with poor prognosis in several types of tumors. In this study, we examined 221 cases of endometrioid endometrial carcinoma for overexpression of p53 using immunohistochemistry in patients with a median follow-up of 41 months.

Distribution of NHS funds between fundholding and non-fundholding practices.

Objectives: To estimate the amount spent on specific hospital care by health agencies in 1993-4 and compare it with the resources allocated to patients registered with fundholding practices for the same type of care. To investigate whether fundholding practices and health agencies pay different amounts for inpatient care.

Design: Examination of hospital episode statistics, 1991 census data, and family health services authority and health agency records.

Six cases of 7p deletion: clinical, cytogenetic, and molecular studies.

To date, 32 cases of partial 7p monosomy have been described, 14 of which have been associated with craniosynostosis (CRS). There is considerable variation in the size and location of the deleted segment. However, CRS appears to be consistently associated with either a deletion or partial deletion 7p21-->7p22 or more rarely a deletion of 7p13-->7p14.

HIV-associated immune-mediated renal disease.

Although focal glomerulosclerosis is the most common renal disease, other proliferative glomerulonephritides are encountered in HIV-infected patients. We studied four HIV-infected patients with renal insufficiency, proteinuria, and proliferative glomerulonephritis, consistent with immune-mediated disease, to investigate the role of the virus and immune complexes in the pathogenesis of the nephropathy. Circulating immune complexes (CICs) and HIV-reactive antibodies were measured and characterized in each patient.

Chemical discrimination of prey by naive neonate Gould's monitorsVaranus gouldii.

Previous studies have demonstrated that actively foraging autarchoglossan lizards rely in part on chemoreception to detect and locate prey. In one of two experiments, neonate Gould's monitorsVaranus gouldii were studied to determine whether they were able to discriminate between multiple prey odors and control odors by tongue-flicking. Responses of lizards to deionized water, a pungency control (cologne), mouse, gecko, and cricket odors on cotton-tipped applicators were studied in experiments using repeated-measures designs and using the tongue-flick attack score (TFAS) as the primary measure of response strength.

Viral DNA in microdissected renal biopsy tissue from HIV infected patients with nephrotic syndrome.

Focal glomerulosclerosis (FGS) has been considered as HIV-associated nephropathy, a specific renal complication of infection. To determine whether renal disease in HIV infected patients has one highly prevalent pathologic expression, and whether renal parenchymal viral genomic incorporation affects pathologic outcome, we reviewed renal biopsies performed at our center. Twenty-eight HIV infected patients with nephrotic range proteinuria underwent renal biopsy for diagnosis of renal disease: 85.

Optimization for detection of cytomegalovirus by the polymerase chain reaction (PCR) in clinical samples.

PCR is 100 times more sensitive than traditional tube culture for detecting cytomegalovirus (CMV) but may require up to 12 reactions per specimen (Sandin et al., 1991). In order to make the assay practical for use in a clinical laboratory the procedure used to detect CMV must be simplified.

A new species of Eimeria (Apicomplexa) from Cordylus cataphractus (Sauria: Cordylidae), from South Africa.

Three armadillo girdled lizards, Cordylus cataphractus Boie, 1828, housed at the Dallas Zoo in Texas, USA but originally imported from Namaqualand, South Africa, were found to be passing oocysts of a previously undescribed species of eimerian. Oocysts of Eimeria murphyi sp. n.

New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.

We report on 3 pairs of sibs from unrelated families, who present with polycystic kidneys Potter type I claimed to be specific for the ARPKD, and with microbrachycephaly, hypertelorism with telecanthus, large posteriorly angulated fleshy ears and various congenital malformations including congenital heart defects. We suggest that they represent a previously unrecognized autosomal recessive lethal developmental disorder within the group of infantile polycystic kidney disease and Potter sequence.

Holoprosencephaly: a family showing dominant inheritance and variable expression.

A family with probable dominant holoprosencephaly is presented with five affected subjects in two sibships, the offspring of healthy sisters who are presumed gene carriers. Of the affected children, three had cebocephaly and died shortly after birth. One had left choanal atresia, retinal coloboma, a single central maxillary incisor, microcephaly, short stature, and learning problems.

Detection of injury-prone behaviors among internal medicine patients.

Objectives: 1) To describe the prevalence of eight injury-prone behaviors (IPBs) and the associations of these behaviors with ten standard chronic disease and sociodemographic risk factors (CDSRFs) among internal medicine patients and 2) to identify a subset of patients with multiple IPBs who might be at particularly high risk of injury.

Design: Cross-sectional survey.

Setting: The University of Colorado Health Sciences Center general internal medicine clinic.

Clinical implications of K-ras mutations in malignant epithelial tumors of the endometrium.

Tumorigenesis in humans and experimental animals appears to involve the activation of ras protooncogenes for a number of organ systems and seems to be important to the development of the metastatic phenotype in several model systems. Clinically, the presence of activated ras protooncogenes has been reported to be a negative prognostic factor in the myelodysplastic syndrome and in adenocarcinoma of the lung. In the present study we examined 49 cases of endometrial carcinoma for mutations in the first exon of K-ras using the polymerase chain reaction and direct sequencing.

Oncogenes in gynecological tumors.

Evidence is increasing that proto-oncogenes and cancer suppressor genes are involved in the development and/or progression of gynecological malignancies. While histopathologic examination remains an indispensable tool of the surgical pathologist in the diagnosis and evaluation of patients with gynecological malignancies, the advancement to technology and the development of new knowledge regarding neoplastic transformation are providing a basis for new opportunities to improve patients care. These new opportunities will depend on the use of the skills and reagents developed in the basic medical science laboratories.

Cardiac myocytes and dendritic cells harbor human immunodeficiency virus in infected patients with and without cardiac dysfunction: detection by multiplex, nested, polymerase chain reaction in individually microdissected cells from right ventricular endomyocardial biopsy tissue.

Two hundred fifteen patients infected with human immunodeficiency virus (HIV) participated in a prospective longitudinal study of HIV-related heart disease. Evaluation included signal-averaged electrocardiography and echocardiography. Fifteen patients underwent endomyocardial biopsy, 5 had cardiovascular symptoms and 10 did not.

Covert hypothyroidism presenting as a cardiovascular event.

Hypothyroidism presenting with classic signs and symptoms is generally easily recognized. Less often, patients with hypothyroidism may present with symptoms and laboratory abnormalities suggestive of cardiovascular disease. In this article, we describe six such patients.