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A M Goldstein

Publications and source records attributed to A M Goldstein.

At least 19 recordsLinked to original sources
PubMed1992

The hard penile circumferential fold as the presenting finding in primary syphilis: report of six cases.

BACKGROUND: Six patients with firm circumferential folds located in the balanic sulcus of the penis were studied. OBJECTIVE: The purpose of the study was to determine the origin of the lesions. METHODS: These patients were examined clinically, with dark-field examination when possible and with a serologic test for syphilis. RESULTS: All patients had reactive serologic tests for syphilis and had enlarged, firm, nontender, inguinal lymph nodes. CONCLUSION: Although we were unable to prove with certainty that the origin of these folds was syphilitic, all patients had clinical and serologic findings that supported the diagnosis of primary syphilis.

Adult↗
PubMed1991

Follow-up study of twenty-four families with Li-Fraumeni syndrome.

The Li-Fraumeni cancer family syndrome is manifested by susceptibility to breast cancer, sarcomas, and other neoplasms in children and young adults. The present study utilized clinical follow-up data on 545 members of 24 Li-Fraumeni kindreds living and cancer-free at family ascertainment. Two hypotheses were tested based on a model of autosomal dominant genetic predisposition: (a) that syndrome cancers would continue to occur excessively during follow-up compared to the general population, and (b) that the tumors would occur primarily among those family members likely to carry the gene. Population cancer rates were compared with cancer rates in follow-up of the cohort from ascertainment to 1988. Risk of carrying the gene for the syndrome at the time of ascertainment was calculated for each family member under two models with somewhat different definitions of affection with the syndrome. Cancer occurrence after ascertainment was then analyzed according to the risks. Cancer did continue to occur excessively among the entire cohort during follow-up [relative risk (RR 2.1)]. The excess was greatest below age 20 (RR 21.1), declined with increasing age, and was most pronounced for neoplasms featured in the syndrome (RR 18.2). Among persons less than age 45, at least 87% of cancers occurred in those at higher risk of carrying the gene under both genetic models (RR 22.9 and 21.3). The clinical data, therefore, reliably identify individuals likely to carry a dominantly inherited gene conferring susceptibility to a specific constellation of neoplasms. Recent identification of a germ line mutation in the tumor suppressor gene p53 in persons with the syndrome may, if confirmed, have implications for ultimately defining the component tumors of the syndrome and for the causes and prevention of those tumors arising outside these families.

Adolescent↗
PubMed1991

Familiality of breast cancer and socioeconomic status in blacks.

Familial patterns of the occurrence of breast cancer were studied in a population-based case-control series of black women from the Cancer and Steroid Hormone study. The risks of breast cancer among relatives of breast cancer cases were compared to those of controls who were matched for age and locale. Using the term "proband" to indicate either case or control status, significant predictors of risk to the relatives of probands included case/control status of the proband and the number of years of education completed by the proband. Genetic segregation analysis of the case families using external risks generated from SEER data indicated that the familial aggregation was consistent with Mendelian recessive transmission of a single major gene. The use of internally estimated risks, which are much less stable than the SEER risks, no longer permitted discrimination among the major locus models examined. To avoid possible reporting bias, we also performed segregation analysis on families of probands who had completed at least 12 years of education. The results from this analysis reflected the results from the entire data.

Adult↗
PubMed1990

Segregation analysis of breast cancer from the cancer and steroid hormone study: histologic subtypes.

The segregation pattern of breast cancer in white families from the Cancer and Steroid Hormone Study was investigated. Families were categorized into four groups based on the histologic type of breast cancer in the probands:ductal cancer, lobular cancer, adenocarcinoma, and medullary cancer. The ductal cancer sample was further split into a premenopausal-proband and a postmenopausal-proband subset. Results for six complex segregation analyses are presented; the findings suggest heterogeneity in the transmission of breast cancer. For all analyses, there was no evidence for a multifactorial component in the mixed model, ie, a major locus plus other transmission, genetic and/or cultural. Interpretation of the medullary cancer, adenocarcinoma, and lobular cancer analyses does not permit discrimination among the major locus models. Segregation of breast cancer in the entire ductal sample was consistent with autosomal recessive transmission. In the ductal subanalyses, a recessive gene was sufficient to explain the breast cancer distribution when the proband had postmenopausal breast cancer. In contrast, when the proband had premenopausal breast cancer, the transmission model was consistent with a dominant major gene, with sporadic cases of disease.

Adenocarcinoma↗
PubMed1990

Genetic epidemiology of bilateral breast cancer: a linkage analysis using the affected-pedigree-member method.

We used the affected-pedigree-member (APM) method to conduct linkage analyses on 19 pedigrees in which the probands had premenopausal bilateral breast cancer. This method analyzes all affected pairs of relatives, as opposed to siblings only, and incorporates into the analyses information on the frequency of marker alleles. Fourteen codominant marker systems were evaluated in two separate analyses. In the first, only premenopausal cases of breast cancer were coded as affected because we assumed that postmenopausal cases were due to a different etiology. In the second analysis, all cases of breast cancer were coded as affected, irrespective of menopausal status. In the premenopausal-cases-only analysis, we observed evidence suggestive of nonindependent segregation for C3 and ESD. In the all-cases analysis, we observed much weaker evidence for C3 and ESD and noted a suggestion of nonindependent segregation for AMY2 and PGM1.

Adult↗
PubMed1990

Implantation of the distal aorta: a technique for preservation of pelvic blood flow in aortofemoral reconstruction.

We report our initial experience with a previously undescribed variation of aortofemoral bypass. This technique is an alternative to end-to-side aortic anastomosis for preservation of pelvic blood flow. It involves an end-to-end proximal aortic anastomosis with implantation of the distal aorta into the posterior wall of the bifurcation graft. This approach has been used selectively for nine patients. Seven patients operated on using this technique had bilateral external iliac artery disease preventing retrograde perfusion of the pelvis. We used this procedure in two other young patients to preserve large inferior mesenteric and distal aortic lumbar vessels proximal to common iliac artery occlusions. Mean follow-up has been 20 months. There have been no deaths and no major complications. This technique provides the hemodynamic benefit of a proximal end-to-end aortic anastomosis while maintaining patency of the distal aorta and its branches. Additional technical advantages may include better suture line protection from the duodenum and a decreased potential for graft limb kinking. These factors may ultimately result in superior long-term graft patency.

Adult↗
PubMed1990

The microarchitecture of the intracavernosal smooth muscle and the cavernosal fibrous skeleton.

The bulk of the parenchyma of the corpora cavernosa consists of bundles of smooth muscle fibers. These bundles are oriented in all directions and establish at least 2 insertions upon elements of the fibrous skeleton of the corpora. The fibrous skeleton includes the tunica albuginea and its fibrous columns, the intracavernous fibrous framework, and the periarterial and perineural fibrous sheaths. The cavernous vascular spaces (sinusoids) form an intercommunicating network embedded within the mass of smooth muscle. Thus, the smooth muscle does not form a muscular wall proper for each sinusoid.

Collagen↗
PubMed1990

A problem in identifying risk factors for disease using surrogate exposure variables that are under genetic control.

The use of a surrogate exposure variable to represent a complex of genetic and/or nongenetic factors is commonplace in epidemiologic studies. The authors present an hypothetical example in which a surrogate exposure results from underlying unknown genetic and nongenetic factors, yet only the genetic component predisposes to disease. The results demonstrate how risk may be incorrectly attributed to the nongenetic component of exposure and suggest a possible explanation for the identification of a risk factor in one case-control study in one population, but not in another study of the same disease conducted in a different population.

Case-Control Studies↗
PubMed1989

Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish.

Reanalysis of an Old Order Amish pedigree, to include several new individuals and two changes in clinical status, markedly reduces the probability of linkage between bipolar affective disorder and the Harvey-ras-1 oncogene and insulin loci on chromosome 11. This linkage can be excluded using a large lateral extension of the original Amish pedigree.

Bipolar Disorder↗
PubMed1989

UACUAAC is the preferred branch site for mammalian mRNA splicing.

The conserved branch-site sequence UAC-UAAC is known to form base pairs with the complementary sequence GUAGUA in U2 small nuclear RNA (snRNA) during mRNA splicing in the yeast Saccharomyces cerevisiae. Although the GUAGUA element is conserved in mammalian U2 snRNA, mammalian branch sites conform only weakly to a YURAC consensus and can even be deleted without obvious effects on the efficiency of splicing in vivo. To understand why the GUAGUA element of U2 is conserved in evolution but the branch site is not, we have devised two different competitive assays for branch-site selection using the first intron of the human beta-globin gene. We find that a sequence resembling UACUAAC is the most efficient branch site for mammalian mRNA splicing both in vivo and in vitro. Our results suggest that in mammals U2 snRNA can form base pairs with the branch site and the interaction between U2 and the branch site can be augmented or replaced by an interaction between the spliceosome and some other element of the intron or exons, perhaps the conserved polypyrimidine tract located immediately upstream from the 3' splice site.

Base Sequence↗
PubMed1989

Selection bias in case-control studies using relatives as the controls.

Investigators have suggested using relatives of cases as the control group when studying complex diseases thought to have a major genetic component. However, there is a concern about possible bias and we developed a model to examine the possibility of bias in the selection of relatives as the control group. Assuming the exposure-specific risks of disease remain constant over time, the results indicate that even when there is a correlation in the exposure status among relatives, selection of controls from relatives of cases does not, of itself, introduce bias in the estimate of effect.

Bias↗
PubMed1989

A genetic epidemiologic investigation of breast cancer in families with bilateral breast cancer. II. Linkage analysis.

We conducted genetic linkage analyses of breast cancer in 20 pedigrees, each having at least one case of bilateral breast cancer diagnosed before 50 years of age. We tested for linkage using inheritance models from previous segregation analyses, incorporating differences in risk based on menopausal status into the analyses. We tested for heterogeneity by predividing the data set based on the interval between diagnoses of the proband's two primaries (less than 1 year (synchronous) versus at least 2 years (asynchronous], and on the histological types of breast cancer in the pedigrees. Very tight linkage could be excluded between breast cancer and ABO, GC, GPT, MNS, and PGM1 for some of the different linkage analyses. A maximum lod score of +1.01 (at theta = 0.001) between ACP1 and a breast cancer susceptibility locus was seen in the asynchronous all-cases subsample.

Breast Neoplasms↗