Cerebral abscess and thrombophilia in pregnancy. A case report.

Background: Cerebral abscess in pregnancy is a rare event, with the etiology not well described. We present such a case in association with genetic thrombophilia.

Case: A 36-year-old primigravida with a prior history of bilateral popliteal vein thrombosis and pulmonary embolism presented in early gestation with right hemiparesis, aphasia, disseminated intravascular coagulation and a space-occupying lesion in the left temporal lobe.

Idiopathic hypocomplementemic interstitial nephritis with extensive tubulointerstitial deposits.

Most forms of interstitial nephritis are cell mediated and lack tubulointerstitial immune deposits. These forms include allergic, infectious, and idiopathic interstitial nephritis. Immune complex deposits in the tubular basement membranes and interstitium most commonly are encountered in conjunction with glomerular diseases.

Common mutations in BRCA1 and BRCA2 do not contribute to early prostate cancer in Jewish men.

Background: Families with a high incidence of hereditary breast cancer, and subsequently shown to have terminating mutations in BRCA1 or BRCA2, appear to have a higher incidence of prostate cancer among male relatives. We aimed to determine whether the common germline mutations of BRCA1 or BRCA2 in Ashkenazi Jewish men predisposed them to prostate cancer.

Methods: We examined genomic DNA from 83 (for BRCA1 185delAG) or 82 (for BRCA2 6174delT) Ashkenazi Jewish prostate cancer patients, most of whom were treated at a relatively young age, for the most common germline mutation in each gene seen in the Ashkenazi population.

Convenient, nonradioactive, heteroduplex-based methods for identifying recurrent mutations in the BRCA1 and BRCA2 genes.

The ability to identify individuals who are predisposed to specific malignant tumors is a promising molecular diagnostic by-product of over two decades of intensive research into the genetic pathogenesis of human cancer. Approximately 2% of Ashkenazi Jews carry recurrent germline mutations in either the BRCA1 or BRCA2 genes that may predispose these individuals to the development of breast and ovarian cancer. We have developed a nonisotopic method, based on the formation of heteroduplexes between polymerase chain reaction (PCR) amplified wild-type and mutant alleles, which can be used to identify the BRCA1 185delAG and the BRCA2 6174delT mutations.

The pattern of p53 and p21WAF1/CIP1 immunoreactivity in non-Hodgkin's lymphomas predicts p53 gene status.

P53 and p21WAF1/CIP1 (p21) immunostaining was performed on 92 non-Hodgkin's lymphomas (NHLs), and the staining pattern correlated with the presence or absence of p53 hot spot mutations as detected by PCR-SSCP of exons 5-8 and direct sequencing. Twenty-nine of 92 lymphomas overexpressed p53, and 17 overexpressed p21. Of the p53 overexpressing lymphomas, 14 also overexpressed p21, and none of these 14 harbored a detectable hot spot mutation.

Open neural tube defects: immunocytochemical demonstration of neuroepithelial cells in amniotic fluid.

Cytologic evaluation of second trimester amniotic fluid (AF) is a rapid, inexpensive adjunct to prenatal diagnosis of open neural tube defects (ONTDs). Our goal was to determine whether the neural-appearing cells and/or large foamy macrophages in the AF of anencephalics are indeed of neural and/or glial origin. In two second trimester patients with elevated serum alpha-fetoprotein (AFP) and polyhydramnios, fetal sonogram studies showed anencephaly; amniocentesis was performed for AF-AFP, cytogenetic, and cytologic studies.

Programmed cell death and expression of the protooncogene bcl-2 in myocytes during postnatal maturation of the heart.

To determine whether programmed myocyte cell death is a major component of the differential growth adaptation of the right and left ventricle during development, the formation of DNA strand breaks in myocyte nuclei was identified and quantitated in hearts of rats at the end of gestation and at 1, 5, 11, and 21 days after birth. Incorporation of BrdU in left and right ventricular myocytes was also evaluated. Moreover, the expression of bcl-2 in myocytes was determined.