Genetic counseling and interpretation of genetic tests in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer.

Purpose: Genetic counseling and interpreting genetic test results can be complex. Moreover, without knowing the limitations of the methods used and the lifetime probability of developing cancer in individuals who carry a gene that predisposes to cancer, misinterpretation may lead to false assurance. The purpose of this review is to discuss how genetic counseling will benefit patients and their family, the genetic tests available for hereditary colorectal cancer syndromes, and the interpretation of results.

Etiology of small bowel obstruction.

Background: Small bowel obstruction (SBO) is a major cause of morbidity and financial expenditure in hospitals around the world. The leading cause of SBO in the western world has become adhesions. The goal of this study was to determine the causes of SBO.

Natural history of patients with adhesive small bowel obstruction.

Background: Small bowel obstruction (SBO) is a major cause of morbidity and financial expenditure. The goals of this study were to determine factors predisposing to adhesive SBO, to note the long-term prognosis and recurrence rates for operative and non-operative treatment, to elicit the complication rate of operations and to highlight factors predictive of recurrence.

Methods: The medical records of all patients admitted to one hospital between 1986 and 1996 with the diagnosis of SBO were reviewed retrospectively.

Use of interferon for prevention of hepatocellular carcinoma in cirrhotic patients with hepatitis B or hepatitis C virus infection.

The incidence of hepatocellular carcinoma in North America is increasing. Current debate focuses on whether interferon administered to cirrhotic patients-with or without biochemical or virologic response-delays or prevents cancer of the liver. Review of the literature revealed several studies that showed improvement in or delay in progression of histologic fibrosis in patients with hepatitis C virus (HCV) infection.

Evaluation of right ventricular systolic pressure during incremental exercise by Doppler echocardiography in adults with atrial septal defect.

Study Objectives: Pulmonary hypertension is the most important complication in patients with atrial septal defect (ASD), but its role in limiting exercise has not been examined. This study sought to evaluate exercise performance in adults with ASD and determine the contribution of elevated pulmonary artery pressure in limiting exercise capacity.

Design: We used Doppler echocardiography during exercise in 10 adults (aged 34 to 70 years) with isolated ASD (New York Heart Association class I, II) and an equal number of matched control subjects.

Priapism secondary to penile metastasis: a report of two cases and a review of the literature.

Malignancy metastasis to the penis is an uncommon clinicopathological entity. We present two cases of malignant priapism following penile metastasis, in which the diagnosis was established by core needle biopsy of the corpus cavernosum. Primary tumors were urothelial carcinoma of the urinary bladder in one case (the patient having concomitant high-grade prostatic adenocarcinoma) and prostatic adenocarcinoma in the other.

Arsenic trioxide as an inducer of apoptosis and loss of PML/RAR alpha protein in acute promyelocytic leukemia cells.

Background: Retinoids, which are derivatives of vitamin A, induce differentiation of acute promyelocytic leukemia (APL) cells in vitro and in patients. However, APL cells develop resistance to retinoic acid treatment. Arsenic trioxide (As2O3) can induce clinical remission in patients with APL, including those who have relapsed after retinoic acid treatment, by inducing apoptosis (programmed cell death) of the leukemia cells.

Induction of apoptosis without differentiation by retinoic acid in PLB-985 cells requires the activation of both RAR and RXR.

Retinoic acid (RA) induces differentiation, followed by apoptosis in acute promyelocytic leukemia (APL) cells, both in vitro and in patients. One problem in understanding these mechanisms is to distinguish molecular events leading to differentiation from those leading to apoptosis. We have identified a leukemic cell line, PLB-985, where RA directly induces apoptosis with no morphologic, genetic, or cell-surface marker evidence of differentiation.

A retinoid-resistant acute promyelocytic leukemia subclone expresses a dominant negative PML-RAR alpha mutation.

The unique t(15;17) of acute promyelocytic leukemia (APL) fuses the PML gene with the retinoic acid receptor alpha (RAR alpha) gene. Although retinoic acid (RA) inhibits cell growth and induces differentiation in human APL cells, resistance to RA develops both in vitro and in patients. We have developed RA-resistant subclones of the human APL cell line, NB4, whose nuclear extracts display altered RA binding.

Comparison of CO2 laser surgery and loop electrosurgical excision/fulguration procedure (LEEP) for the treatment of vulvar intraepithelial neoplasia (VIN).

The aim of this open clinical trial was to evaluate the therapeutic effectiveness of CO2 laser vs. loop electrosurgical excision/fulguration procedure (LEEP) in 28 patients with vulvar intraepithelial neoplasia (VIN) (mean linear extent = 6 cm2). To avoid selection bias, in each patient half of the lesional area was treated with CO2 laser excision/vaporization and the other half was electro-excised/fulgurated.

Lung scintigraphy in pulmonary capillary hemangiomatosis. A rare disorder causing primary pulmonary hypertension.

The authors report the results of lung scintigraphy in two patients with primary pulmonary hypertension caused by pulmonary capillary hemangiomatosis, a rare disorder resulting from the proliferation of histologically normal capillaries in the lung. Perfusion studies revealed a nonhomogeneous pattern with some focal defects, similar to that seen with some other histologic types of primary pulmonary hypertension. The mechanisms underlying this perfusion pattern are unknown.

Prostatic abscess caused by Streptococcus mutans.

The first reported case of prostatic abscess caused by Streptococcus mutans isolated in pure culture is described. Urethral dilation for obstruction was unsuccessful, so suprapubic cystostomy was performed. Perineal aspiration under ultrasonic guidance resulted in 10 mL of pus containing pure Strep mutans.

Non-beta-lactamase-producing penicillin-resistant Enterococcus faecium in a clinical setting.

Six clinical isolates of Enterococcus faecium highly resistant to penicillin are reported. These strains did not produce beta-lactamase and no plasmid DNA could be detected. It is postulated that the mechanism of resistance is one or more chromosomally mediated alterations of penicillin-binding proteins.