Benign breast aspirates: two decades of experience.

OBJECTIVE: To evaluate the reliability of benign breast aspirates. DESIGN: A 20-year retrospective study of cytologically benign aspirates from palpable breast lesions followed by surgery and review of false negatives. RESULTS: Data encompassed 1518 benign aspirates followed by benign histology, and 99 by malignant histology. Of the latter, 89% underwent biopsy within 1 month. Review of 52 available false negatives revealed 10 (19%) with no change in the original diagnosis, 16 (31%) reviewed as unsatisfactory specimens, and 26 (50%) reviewed as specimens with focal cytologic atypia (dyshesion, nuclear enlargement, and contour irregularity). Cellularity (>20 epithelial groups per slide) was an important criterion in postmenopausal women. CONCLUSION: Our study confirms the reliability of benign breast aspirates interpreted in light of clinical and mammographic findings and demonstrates the importance of adequacy evaluation and focal atypia in preventing false negatives.

Hepatic fibrosis associated with hereditary cystinosis: a novel form of noncirrhotic portal hypertension.

Hepatomegaly is a common feature of hereditary nephropathic cystinosis but is rarely associated with symptoms of liver disease. Aside from cystine crystal deposit within Kupffer cells, the cause of liver enlargement is unknown. We report the case of a patient with nephropathic cystinosis who died at the age of 24 yr after multiple renal transplants. In addition to classical systemic signs of advanced cystinosis, the patient had evidence of portal hypertension. At autopsy, the liver was enlarged for body size (1520 g) and very firm. Massive crystal accumulation within Kuppfer cells was accompanied by intense sinusoidal deposition of collagen types I, III, and IV, with associated hepatocyte atrophy. There was no inflammation or regenerative nodules. Numerous enlarged and fat-laden Ito cells were present in association with the collagen. This case illustrates a novel form of noncirrhotic portal hypertension associated with cystinosis. Analysis of future cases may serve to highlight the role of Kupffer and Ito cells in the pathogenesis of hepatic fibrosis.

High-frequency endoluminal ultrasonography of the esophagus in human autopsy specimens.

A 20 MHz ultrasound transducer housed in a 6.2 Fr catheter was used to image human esophageal autopsy specimens from six cadavers. Histologic sections taken from the areas imaged were correlated with cross-sectional sonographic images. Six echo layers were seen in the non-fluid-filled esophagus whereas seven echo layers were seen in the fluid-filled esophagus. These seven layers correspond to the following histologic structures: first hyperechoic layer--mucosa (including squamous epithelium and lamina propria); second thin hypoechoic layer--muscularis mucosae; third very bright hyperechoic layer--submucosa; fourth hypoechoic layer--circular smooth muscle; fifth thin hyperechoic layer--intermuscular connective tissue; sixth hypoechoic layer--longitudinal smooth muscle; seventh hyperechoic layer--adventitia.

Multiple myeloma and chronic myelogenous leukemia--a case report with literature review.

This is the case of a 71 year old male who developed multiple myeloma (MM) and chronic myelogenous leukemia (CML) within a two year period. The patient initially presented with osteolytic lesions of the lumbar spine, and following the initial work-up a diagnosis of multiple myeloma with an IgG kappa paraproteinemia was made and appropriate treatment was given. Two years later the patient developed a progressively worsening leukocytosis which was found to be due to Philadelphia Chromosome (Ph1) positive CML. The occurrence in the same patient of two distinct hematologic malignancies suggests a neoplastic transformation of a pluripotent stem cell. A review of the literature appears to support the existence of a relationship between MM and CML as well as a relationship between MM and the myeloproliferative disorders.

Endoluminal ultrasonography of the distal esophagus in systemic sclerosis.

BACKGROUND: The aim of this study is to apply high-resolution endoluminal sonography (HRES) to the study of the esophageal disease in systemic sclerosis (SSc). METHODS: An HRES transducer was used to image the esophagus. Autopsy specimens of normal and SSc esophagi were imaged to define a hyperechoic abnormality in the normally hypoechoic muscularis propria. The presence or absence of this hyperechoic abnormality of the esophagus in SSc patients was compared with sonographic findings in normal volunteers. The degree of the hyperechoic abnormality was correlated with the results of functional esophageal studies including esophageal motility, lower esophageal sphincter pressure, and 24-hour pH monitoring in SSc patients. RESULTS: A hyperechoic abnormality in the normally hypoechoic muscularis propria on HRES seemed to correspond with the presence of fibrosis on histological sections from the distal esophagus in SSc autopsy specimens. A significant difference was found in the presence of this hyperechoic abnormality in patients with SSc when compared with normal controls (P < 0.001). Finally, there were strong positive correlations between the degree of this hyperechoic abnormality and esophageal manometric abnormalities (r = 0.89; P < 0.001) and supine (r = 0.74; P < 0.01) and total (r = 0.70; P < 0.02) acid reflux on 24-hour pH monitoring. CONCLUSIONS: HRES is a sensitive new method to determine the presence or absence of hyperechoic abnormalities in the muscularis propria and to predict functional abnormalities of the esophagus in patients with SSc.

Mammography use and outcomes in a community. The Greater Lansing Area Mammography Study.

BACKGROUND: Mammography is widely known to reduce morbidity and mortality from breast cancer, but a population-based assessment of mammography use and follow-up of mammography findings has not been reported previously. METHODS: An observational, population-based, follow-up study was conducted of all women having mammograms in the Greater Lansing, Michigan, metropolitan area, between June 1987 and June 1988. A total of 17,811 Greater Lansing women participated. The adherence of women to mammography screening guidelines was estimated, and mammography's utility to detect breast cancer was assessed through follow-up review of breast biopsy results. RESULTS: Thirty-seven percent of the expected number of women 35 years of age and older had mammograms. Adherence to screening guidelines declined with age, and less than 5% (302 of 6700) of women 55 years of age and older reporting having annual mammograms. Seventy-six percent of women reported that their physicians prompted the examination. The predictive value of a positive mammogram was 21.9% for women without symptoms and 32.4% for women with symptoms. Mammography's sensitivity and specificity for breast cancer detection were 71% and 98%, respectively. CONCLUSIONS: The study highlights the need to target mammography to women 50 years of age and older, underscores the importance of physicians in promoting mammography, and demonstrates the analytic value and limitation of mammography in clinical decision-making.

Transnasal US of the esophagus: preliminary morphologic and function studies.

High-frequency catheter-based ultrasound (US) transducers can be inserted into the esophagus transnasally to evaluate esophageal wall structures. Studies were performed in two sheep esophagus specimens in vitro, in 17 healthy human subjects, and in 16 patients with esophageal abnormalities (eight with achalasia, four with scleroderma, three with esophageal carcinoma, and one with esophagitis). In the sheep specimens, endoluminal US delineated seven layers of the esophageal wall; these results correlated closely with histologic findings. Real-time US of the normal esophageal wall was performed during resting and swallowing. Muscles at the lower esophageal sphincter (LES) were shown to be thicker than muscles in the body of the esophagus. Thickening of the muscular layers at the LES in achalasia, dilated blood vessels within the submucosa in esophagitis, and fibrotic changes within the muscular layers in scleroderma were demonstrated. Extramural structures adjacent to the esophagus were also seen. These preliminary results suggest that transnasal esophageal US may become an important diagnostic tool in evaluation of the esophagus.

Larsen's syndrome with novel congenital anomalies.

A full-term female infant with the rare Larsen's syndrome who died after 2 days is presented. The infant exhibited several of the anomalies characteristically reported with this syndrome. These include multiple joint deformities, a flattened facies, hydrocephalus, cardiac defects, and tracheal stenosis. We now report two additional congenital malformations that have not been previously reported with this syndrome: complete agenesis of the anus, with the distal colon ending in a cul-de-sac, and the presence of a bifid uterus. These novel congenital anomalies further support the etiology of Larsen's syndrome as a generalized mesenchymal disorder, since they arise from a defective process of embryonal induction involving mesenchymal tissue.