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Biomedical subjects

E H Bossen

Publications and source records attributed to E H Bossen.

At least 19 recordsLinked to original sources
PubMed1996

Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.

UNLABELLED: The A to G point mutation at position 3243 of the mitochondrial DNA tRNALeu(UUR) gene is commonly found in patients with the syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). A male patient was referred at 7 months with failure to thrive, developmental delay, microcephaly and hypotonia since age 2 months. He had developed lactic acidosis and increasingly frequent seizures since age 5 months. The patient was admitted at 15 months with pleural and pericardial effusions, which resolved. Three weeks later he developed evidence of pancreatitis with hyperglycemia, sudden profound increase in lactic acidosis and increased serum lipase. He died unexpectedly the next day of cardiorespiratory collapse following an acute gastro-intestinal hemorrhage. Analysis of mitochondrial DNA (mtDNA) in muscle showed heteroplasmy for the mutation MTTL1*MELAS3243G (> 95%). Infants with this mutation commonly present with failure to thrive, significant developmental delay, and hypotonia, while stroke-like episodes occur later in survivors. They usually have lactic acidosis and a high percentage of mutant mtDNA in muscle. CONCLUSION: Respiratory chain disorders including the mtDNA MTTL1*MELAS3243G mutation should be suspected in infants with this systemic and neurologic presentation. Pancreatic dysfunction, both acute and chronic, needs to be added to the list of symptoms of disorders of the respiratory chain.

Acidosis, Lactic↗
PubMed1994

Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder.

A 40-year-old woman presented with profound muscle weakness resulting in failure to wean from a ventilator and persistent lactic acidosis after having recovered from a pneumonia complicated by adult respiratory distress syndrome, myocardial infarction, renal failure and shock. She had a 28 year history of chronic anemia and exercise intolerance. Anemia and thrombocytopenia persisted after admission. Nonobstructive hypertrophic cardiomyopathy was present. A stroke-like episode occurred. A mitochondrial myopathy with deficiencies in complexes IV and II was demonstrated, but no DNA defect has yet been found. This patient represents a distinct clinical presentation of a mitochondrial disorder characterized by late onset mitochondrial myopathy, chronic anemia, cardiomyopathy, and lactic acidosis.

Acidosis, Lactic↗
PubMed1993

The management of desmoid tumors.

PURPOSE: To determine the efficacy of different treatment modalities for desmoid tumors. MATERIALS AND METHODS: We reviewed the treatment of 40 patients with histologically confirmed desmoid tumors seen at Duke University Medical Center between 1974 and 1990. RESULTS: Radiotherapy was administered to 16 patients (Group I)--14 with recurrent disease s/p surgery and in two as initial treatment. The average size of the irradiated lesions was 9.3 +/- 3.9 X 8.4 +/- 3.5 cm. With a median follow-up of 57.5 months and a median administered dose of 5400 cGy (mean 5286 cGy, range 4960-5620 cGy), local control has been obtained in 15/16 patients (94%). Complete regression (5/16), partial regression (5/16), or stable disease (5/16) was produced in 15 patients while one patient failed and was salvaged via gross total resection. Continued regression has been seen up to 60 months after treatment. Fourteen patients underwent primary gross total resection and two underwent subtotal resection (Group II). None received post-operative radiotherapy. Three of 14 patients (21%) recurred after gross total resection. All three were salvaged with subsequent gross total resection. After subtotal resection, 2/2 patients recurred. With a mean follow-up of 52 months, 14 patients are without evidence of disease, one is dead with disease (unrelated cause of death), and one was lost to follow-up after recurrence. Eight patients have been treated with combinations of chemotherapy, NSAIDS, anti-estrogens, and immunotherapy with mixed results (Group III). A subset of seven patients with retroperitoneal disease taken from all three groups had large tumor burden (mean size 17 X 15 cm), an infiltrative nature, as well as a difficult location. The disease was surgically resectable in three patients. One is without evidence of disease 9 years after gross total resection alone. Disease has been stabilized with radiotherapy in the other two patients after multiple unsuccessful surgical resections. Of four patients with unresectable disease, two are dead of disease, one died of unrelated causes with disease, and regression of disease was obtained in the other with Gamma-interferon after unsuccessful treatment with tamoxifen and vincristine, doxorubicin, and cyclophosphamide chemotherapy. CONCLUSION: Gross total resection is the indicated initial therapy, if it can be performed without significant disfigurement. Radiotherapy is also excellent for obtaining local control, even in patients with a large burden of recurrent disease. Doses in the range of 50 to 55 Gy give a chance of local control equal to that obtained with higher doses previously reported.

Adolescent↗
PubMed1992

Oncocytic differentiation in intrahepatic biliary cystadenocarcinoma.

An intrahepatic biliary cystadenocarcinoma in a 56-yr-old white man was characterized by pronounced oncocytic differentiation. Grossly the tumor was a well-demarcated cyst filled with numerous branching papillary fronds. Most tumor cells had abundant granular, intensely eosinophilic cytoplasm on light microscopic examination and large numbers of densely packed mitochondria by electron microscopy. Mucin-secreting cells were also present. The patient returned 20 mo after resection of the primary tumor with recurrent tumor in the liver and widely disseminated disease throughout the abdominal cavity, and he died 5 mo later. Although less differentiated, the recurrent tumor again contained greatly increased numbers of mitochondria. The partial loss of oncocytic differentiation in the evolution of the present case and the benign nature of purely oncocytic tumors suggest that in the presence of mixed histologic features the potential for tumor progression is primarily determined by the lesser differentiated or nononcocytic component. To the best of our knowledge, oncocytic differentiation has not been previously described in biliary neoplasia.

Bile Duct Neoplasms↗
PubMed1992

Nasopharyngeal teratomas.

Teratomas are the most common congenital tumors, but neoplasms of the nasopharynx are rare in neonates and children. Four histologic types of nasopharyngeal teratomas occur-dermoids, teratoids, true teratomas, and epignathi-of which dermoids comprise the vast majority. A case is presented of a neonate born at term exhibiting signs of respiratory difficulty, which were found to be caused by a true teratoma of the nasopharynx. A review of several large case series of pediatric teratomas confirmed the rarity of occurrence at this site. An extensive review of case reports identified those meeting the criteria of true teratomas of the nasopharynx; the characteristics of these cases are delineated.

Female↗
PubMed1991

Adenoid cystic carcinoma of the breast metastatic to the kidney. A clinically symptomatic lesion requiring surgical management.

Adenoid cystic carcinoma (ACC) of the breast is a rare histologic type of breast cancer associated with a good prognosis. A woman who earlier had a pulmonary metastasis surgically resected 6 years postmastectomy developed clinically symptomatic bleeding from a renal metastasis 12 years postmastectomy. An atypical angiographic picture (moderate vascularization) for secondary renal neoplasms was observed. The characteristic histologic features of ACC were present in all specimens; ultrastructural characteristics of ACC were identified in the renal lesion. Successful surgical management of these metachronous solitary metastases demonstrates the therapeutic utility of aggressive management in maintaining disease control of this histologic type of breast cancer.

Breast Neoplasms↗
PubMed1990

Glutathione protects cardiac and skeletal muscle from cyclophosphamide-induced toxicity.

Administration of cyclophosphamide at a dose which is lethal to 10% of control athymic nude mice resulted in sudden death within 3 h in all mice that had been pretreated with the glutathione synthesis inhibitor L-buthionine-SR-sulfoximine. In Fischer 344 rats pretreated with L-buthionine-SR-sulfoximine, the cyclophosphamide dose producing 100% acute toxicity was lowered from 500-150 mg/kg; cardiac monitoring revealed ventricular fibrillation to be the cause of death. These and additional studies reported demonstrate that cytoplasmic glutathione is an important protectant against the cardiac and skeletal muscle toxicity of cyclophosphamide and indicate that such toxicity may be substantially increased by glutathione depletion. Since diet and many drugs (including cyclophosphamide itself) are known to affect glutathione levels, the present studies suggest that cardiac and skeletal muscle glutathione content is likely to be a clinically significant determinant of the frequency and severity of the adverse drug interactions and systemic toxicity sometimes observed during cyclophosphamide therapy.

Animals↗
PubMed1990

Multicentric malignant fibrous histiocytoma of soft tissue.

We present an unusual case of multicentric malignant fibrous histiocytoma of soft tissue. Over the past 24 years, a 67-year-old woman developed malignant fibrous histiocytoma in four different soft-tissue sites. There were two local recurrences of one of the tumors. Currently, there is no evidence of visceral involvement. The evidence suggests that this patient has a predisposition of the connective tissue to develop malignant tumors of fibrohistiocytic differentiation.

Aged↗
PubMed1988

Distal vacuolar myopathy with complete heart block.

We describe a 26-year-old man with a predominantly distal myopathy and complete heart block. A muscle biopsy specimen demonstrated numerous vacuoles, which, by electron microscopy, contained membranous whorls. Filamentous inclusions characteristic of inclusion body myositis were not seen. It is important to be aware that life-threatening cardiac disease may occur in this setting.

Adult↗
PubMed1987

Oligodendroglioma arising in heterotopic brain tissue of the soft palate and nasopharynx.

A child with heterotopic brain tissue in her soft palate and nasopharynx is presented. Within the mass there was a small oligodendroglioma. Eighteen previous cases of heterotopic brain tissue in the nasopharynx and soft palate are also reviewed. These differ from nasal gliomas in that the latter do not contain ependyma, choroid plexus, retinal components, or neoplastic tissue. Both nasal gliomas and heterotopic brain tissue in the soft palate and nasopharynx are believed to result from embryonic brain trapped in inappropriate areas during development.

Brain↗
PubMed1986

Characterization of renal neoplasms with monoclonal antibodies to leukocyte differentiation antigens.

Several monoclonal antibodies against human leukocyte differentiation antigens have been shown to react with normal kidney. Four monoclonal antibodies with different patterns of reactivity on normal kidney were tested against 20 renal epithelial neoplasms and 5 Wilms' tumors. In general, the expression of these antigens on renal tumors was faithful to their presence on normal kidney; this finding suggested that most renal tumors may be derived from proximal tubule epithelium. There was, however, both intertumor and intratumor heterogeneity of expression of these antigens, but the different phenotypes encountered did not correlate in any simple way with histologic subclassification. In contrast, the five Wilms' tumors were phenotypically different from the epithelial neoplasms, consistent with an origin from a more primitive renal cell.

Antibodies, Monoclonal↗
PubMed1986

Basaloid-squamous carcinoma of the tongue, hypopharynx, and larynx: report of 10 cases.

Ten cases of an unusual form of carcinoma involving the mucosa and underlying tissue of the tongue, hypopharynx, and larynx are described. All ten of the tumors were evaluated by light microscopy; five were also studied by electron microscopy. The major histopathologic feature is carcinoma with a basaloid pattern in intimate association with squamous cell carcinoma, carcinoma in situ, or focal squamous differentiation. The basaloid tumor consists of small crowded cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of tumor necrosis. Prominent hyalinosis is evident. Ultrastructurally, the basaloid epithelial cells possess rare tonofilaments and varying amounts of desmosomes. The cystic spaces contain either loose stellate granules or replicated basal lamina arranged in parallel stacks or globoid masses. This unique tumor was found to be highly malignant, with histologically proved metastases in 80 per cent of the cases. Most of the patients were treated by radical surgery supplemented with radiation and/or chemotherapy. It is concluded that tumors with these characteristic features constitute a distinct histopathologic entity, not previously described, for which basaloid-squamous carcinoma is an appropriate term.

Aged↗