[Primary malignomas of the small intestine].
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Adult↗
Biomedical subjects
H D Saeger
Publications and source records attributed to H D Saeger.
[Splenic cysts: clinical aspects, diagnosis and differential diagnosis].
328 patients were splenectomized from 1967 until 1976. In this period only 4 splenic cysts were observed and operated. Three cysts were posttraumatic and one was of lymphatic origin. The case history and diagnostic management is reported with special reference to preoperative angiography and differential diagnosis. There were no postoperative complications observed.
Adult↗
Interaction of NO, endothelin and oxalate in patients with systemic inflammatory response syndrome (SIRS).
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Endothelins↗
Liposarcoma of the diaphragm: CT and sonographic appearances.
Malignant tumors arising from the diaphragm are exceedingly rare. We describe the first case, to our knowledge, of a primary diaphragmatic liposarcoma and demonstrate computed tomographic and sonographic findings.
Abdominal Neoplasms↗
[Management of multiple endocrine neoplasia syndrome type 2 families in association with rare germline mutations of the RET proto-oncogene].
INTRODUCTION: Heredity of MEN2 syndromes is caused by a heterozygous germline mutation in the RET proto-oncogene. This study describes families with rare noncysteine codon 790/791 mutations and discusses the genotype-phenotype correlation plus the therapeutic options. PATIENTS AND METHODS: Forty-five patients with a putative sporadic MTC were screened for RET germline mutations by direct DNA sequencing. Family members of identified index cases underwent genetic analysis. Gene carriers were examined clinically and biochemicaly and underwent prophylactic thyroidectomy. RESULTS: Five index patients were identified. In the kindreds three L790F and one Y791F carriers were detected. The thyroid gland histology of L790F carriers revealed MTC in 2 patients and C-cell hyperplasia in 2 additional patients. The Y791F carrier had a normal histology. CONCLUSIONS: Codon 790/791 mutations had diverse penetrance: prophylactic thyreoidectomy in children is a justifiable approach for codon 790 mutation carriers, but should depend on the clinical course of codon 791 carriers.
Adolescent↗
[Recurrent hemorrhage from a duodenal ulcer in a 5-year-old healthy boy. A case report].
Peptic ulcers in infants are rare. We report a 5-year-old boy who was admitted with recurrent bleeding from a huge duodenal ulcer. There were no concomitant disease and no preceding symptoms discovered. The only clinical symptom was bloody stool of light red color what led to diagnostic problems. Upper gastrointestinal bleeding was not considered initially. Short transit time through the gut may suggest a bleeding source within the lower intestine. Gastroscopy was performed delayed. Injection therapy of the ulcer once using fibrin sealant was followed by definite cessation of bleeding. Helicobacter pylori was not found. Hormone producing tumors could be excluded. There was a psycho-social situation of stress recognizable for the infant. The pathogenic mechanism of peptic ulceration due to psycho-social stress is unknown and somewhat doubtful at all. Peptic ulcer disease in infants and children should more often be considered when dealing with diffuse abdominal pain or with gastrointestinal bleeding.
Abdominal Pain↗
Accumulation of genetic alterations in brain metastases of sporadic breast carcinomas is associated with reduced survival after metastasis.
Tumor progression is characterized by stepwise accumulation of genetic alterations. To identify alterations associated with breast cancer metastasis, an analysis of comparative loss of heterozygosity (LOH) was performed on 38 primary sporadic breast carcinomas and 16 distant metastases. Two loci at 5q21 and 18q21 were chosen because of their reported increased deletion frequency in metastatic tumors. LOH at 17q21, 13q12-13, 17p13.1 and 11q22-23 was analyzed to determine whether there is a specific involvement of these breast cancer-associated gene loci in the metastatic process. Our data show that distant metastases are characterized by markedly increased LOH frequency at all loci examined. In both gene locus groups, significantly more distant metastases are affected by combined LOH. Furthermore, a significantly reduced postmetastatic survival time has been observed in patients with brain metastases affected by synchronous allelic loss at the four breast cancer-associated gene loci. Our results suggest that cumulative LOH of breast cancer-related gene loci is associated with a more aggressive phenotype of metastatic breast tumors.
Ataxia Telangiectasia Mutated Proteins↗
Loss of BRCA2 correlates with reduced long-term survival of sporadic breast cancer patients.
BACKGROUND: The present study was undertaken to analyze the prognostic value of loss of heterozygosity (LOH) at 13q12-13, 17q21 and 17p13, harboring BRCA2, BRCA1 and p53 to predict the clinical course of sporadic breast cancer patients. MATERIALS AND METHODS: LOH analysis was performed by PCR amplification of genomic DNA using nine microsatellite markers. Fifty-three sporadic breast cancer patients were followed clinically for a median of 55 months. Disease-free and overall survival was documented as the endpoint for statistical evaluation. RESULTS: Patients presenting with LOH in their tumor samples at at least one of the loci examined were found to have a reduced overall survival time compared to those retaining heterozygosity (61% versus 48%). Focusing on the three target regions, patients with LOH at the BRCA2 locus died earlier compared to patients retaining heterozygosity (69% versus 50%) and, in addition, BRCA2 LOH-positive patients showed a shorter metastasis-free interval (30 versus 37 months). In a multivariate analysis, LOH at the 13q12-13 locus was found to be a significant predictor for reduced long-term survival (risk ratio 2.33, 95% C.I., 1.0-5.3; p<0.05) and earlier metastases manifestation (risk ratio 2.32, 95% C.I., 1.0-5.3, p<0.05). CONCLUSION: Allelic loss at the BRCA2 locus may be of use as a negative predictor for metastases-free and overall survival.
Adult↗
[Cancer of the breast in males].
Between 1982 and 1990, 1027 women and 13 men were operated upon for cancer of the breast. Analysis failed to show any difference with sex for age, localization or symptomatology. Distribution by stage, as defined by the U.I.C.C., showed a higher incidence of stage III in the men and of stage II in the women. Treatment consisted of a modified Patey type radical mastectomy in the men, a more limited intervention being applied in 20% of the women. After a mean follow up of 62 months, none of the men had died of their breast cancer. The recurrence rate was 16%. Results in this series and in those reported in the literature emphasize the decisive prognostic value of primary surgical treatment. Complementary hormone therapy with tamoxifen is particularly indicated, since 90% of the patients had positive estrogen hormone receptors.
Adult↗