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Biomedical subjects

B Stamm

Publications and source records attributed to B Stamm.

At least 19 recordsLinked to original sources

[Secondary syphilis with ocular manifestations and oral ulceration].

In this case-report we describe a patient who was first seen with a painless lesion of the chin. Despite treatment with antibiotics and steroids it didn't heal. Later on, painful ulcerations of the mouth, perianal itching lesions and a central skotoma appeared. In the hospital--course a syphilitic infection with multiple oral ulcerations and occular infestation was diagnosed. The lesion on the chin was interpreted as the primary chancre as a time--correlation of its appearance and the time of exposition could be documented. The epidemiology, the diagnostic measures are described. We outline the manifestations of syphilis and their change in our time and discuss therapeutic regimes.

Chancre↗

Combined copy status of 18q21 genes in colorectal cancer shows frequent retention of SMAD7.

Deletions of chromosome band 18q21 appear with very high frequency in a variety of carcinomas, especially in colorectal cancer. Potent tumor suppressor genes located in this region encode transforming growth factor beta (TGF-beta) signal transducers SMAD2 and SMAD4, and inactivation of either one leads to impaired TGF-beta-mediated cell growth/apoptosis. Following the assignment of SMAD7 to 18q21, we first refined the SMAD7 gene position within this region by genetically mapping SMAD7 between SMAD2 and SMAD4. Further, to compare the respective frequencies of genetic alterations of these three SMAD genes in colorectal cancer, we undertook a large-scale evaluation of the copy status of each of these genes on DNA samples from colorectal tumor biopsy material. Among a subset of 233 DNA samples for which data were available for all four genes, SMAD4, SMAD2, and the nearby gene DCC showed high deletion rates (66%, 64%, and 59%, respectively), whereas SMAD7 was deleted in only 48% of the tumors. Unexpectedly, we found some gene duplications; SMAD7 appears to be more frequently amplified (10%) than the three other genes (4-7%). Compiled data for SMAD genes in each tumor show that the most common combination (26% of all the tumors) consists of the simultaneous deletions of SMAD2 and SMAD4 associated with normal diploidy or even duplication of SMAD7. Since SMAD7 normally counteracts SMAD2 and SMAD4 in TGF-beta signaling, we hypothesize that the tumor might not benefit from simultaneous SMAD7 inactivation, thereby exerting selective pressure to retain or even to duplicate the SMAD7 gene.

Chromosome Deletion↗

Prospective detection of clinically relevant prostate cancer in the prostate specific antigen range 1 to 3 ng./ml. combined with free-to-total ratio 20% or less: the Aarau experience.

PURPOSE: Little is known about the incidence rate and clinical relevance of prostate cancer in a low prostate specific antigen (PSA) level. In a prospective PSA based screening study we investigated the incidence and clinicopathological features of prostate cancer that occurred within PSA range 1 to 3 ng./ml. when the free-to-total ratio was 0.20 or less. MATERIALS AND METHODS: Men participating in the Aarau, Switzerland, section of the European Randomized Study of Screening for Prostate Cancer between October 1998 and July 2000 were included in the study. As a side study, all men with PSA between 1 and 3 ng./ml. and free-to-total ratio 0.20 or less were invited to undergo further evaluation with ultrasound guided sextant prostate biopsy. RESULTS: Overall, 168 (7.8%) participants fulfilled inclusion criteria. A total of 158 (94%) patients underwent prostate biopsy, and prostate cancer was detected in 17 (10.8%). There were no statistically significant differences between prostate cancer and benign prostatic hyperplasia in regard to patient age (60.7 versus 59.8 years), prostate volume (23.9 versus 23.0 cc), PSA (1.98 versus 1.86 ng./ml.), free-to-total ratio (0.161 versus 0.160), PSA density (0.089 versus 0.076 ng./ml.) or PSA transition zone density (0.33 versus 0.24 ng./ml., respectively). Median Gleason score was 5 on prostate biopsy versus 6 on retropubic prostatectomy specimen. Of the 14 patients who underwent surgery there were positive lymph nodes in 1, stage pT3b Gleason 7 disease in 1, and pathologically organ confined Gleason 5 in 2, Gleason 6 in 5 and Gleason 7 in 5. Mean tumor volume was 1.01 cc (range 0.02 to 5.17). There were 2 (14.3%) insignificant (less than 0.2 cc, Gleason grade 3 or less), 1 (7.1%) minimal (less than 0.5cc, Gleason grade 3 or less) and 11 (78.6%) clinically relevant and potentially harmful cancers. CONCLUSIONS: There is a significant number of prostate cancer cases diagnosed at PSA as low as 1 to 3 ng./ml. A majority of these tumors are clinically significant. This free-to-total ratio range may be helpful for identifying prostate cancer. The "window of opportunity" for detection of curable cancer may change in populations with higher life expectancy towards lower PSA. Lack of specificity and characterization of tumor aggressiveness remains an unsolved issue for PSA.

Aged↗

[Pathogenetic and clinical aspects of low estradiol level in the man].

To elucidate a possible role of low estradiol (E2) levels in blood serum of men, normal values were determined in 91 healthy men (age 20-75 years), classified as high or low complaint-index due to a psychological questionnaire. Statistical analysis gave no correlation of estradiol levels to age or complaint index in normal men whereas testosterone (T) could be significantly correlated to complaint-index (p < 0.01) and free testosterone (fT) could be significantly correlated to age (p < 0.001) and complaint-index (p < 0.01). T and E2 were determined in 1370 clinical patients with various urological diseases, T, fT and E2 in 1261 ambulant patients. In 72/1370 (5.2%) and 76/1261 (6%) patients, low E2-levels (< 10 pg/ml) were found in blood serum. In 56/76 (74%) patients with low E2-levels, T or fT was simultaneously low. Isolated low E2-levels were found in 20/1261 (1.6%) patients. In clinical patients, no special urological disease correlated to low E2-levels. Due to these results, low E2 levels in men are in most cases the result of low testosteron levels. The adequate hormonal treatment in men is therefore the replacement of testosteron. Substitution of E2 in men is at that time an experimental therapy, that is limited on selected cases.

Adult↗

Malakoplakia of the colon in an infant with severe combined immunodeficiency (SCID) and charge association.

We report on malakoplakia of the colon observed in a six month old girl in a setting of severe combined immunodeficiency (SCID) and a malformational syndrome termed CHARGE association. By the age of six months, hemorrhagic diarrhea had developed, and multiple ulcers were seen at colonoscopy. The biopsy specimen showed ulcerating malakoplakia. Immunodeficiency was primarily reflected by deprivation of CD4 cells in the peripheral blood, and CT scans failed to detect structures consistent with a normal thymus. There were also polylymphadenopathy and chronic erythroderma. The lymph node showed extreme hypoplasia of the follicular cortex and marked expansion of the paracortex. B cell counts progressively declined, and plasma cells were absent both in intact mucosa of the colon and in a lymph node. The patient died at eighteen months of respiratory failure following recurrent airway infections. Pediatric malakoplakia of the colon, though rare, may be regarded as an example of opportunistic bacterial infection in an immunocompromised host. Combined immunodeficiency (CID) has to be considered in such instances, in particular when malformational syndromes coexist affecting the development of the thymus.

Abnormalities, Multiple↗

[CT- and ultrasound-guided biopsies: prospective comparison of fine-needle aspiration with true-cut biopsy in 103 patients].

PURPOSE: A prospective comparison of FNAB and TCB was performed in an identical set of patients and lesions. METHODS: In 103 patients focal lesions were biopsied by US- or CT-guidance with at least one FNAB and TCB each. Complications were registered and documented. Cytological and histological specimens were evaluated independently. A final diagnosis was then attempted by consensus. RESULTS: A total of 253 punctures was performed with sufficient tissue in 72.8% (FNAB) and 85.4% (TCB) of the cases. Diagnosis was possible in 68% (FNAB) and 80.6% (TCB). After combined evaluation of both specimens the diagnostic yield increased to 91.3%. Minor complications without clinical sequelae were observed in 21 patients. CONCLUSION: A diagnostic strategy with the combined use of FNAB and TCB increases the diagnostic yield in image-guided punctures. Even though this approach needs at least two separate punctures, the complication rate does not increase.

Biopsy↗

Metastasis to the nasal tip from a cervical carcinoma.

We report on a patient with a red-violaceous swelling of her nasal tip which turned out to be a primary metastasis of a cervical carcinoma. Only 2 patients with metastatic lesions in the nose from cervical carcinoma have been reported. The clinical features are presented, and the differential diagnosis is discussed.

Carcinoma, Squamous Cell↗

Germ-line mutations of the p16INK4(MTS1) gene occur in a subset of patients with hepatocellular carcinoma.

The molecular mechanisms of hepatocarcinogenesis are poorly understood. Only very recently has there been a suggestion of familial hepatocellular carcinoma (HCC). We have analyzed the status of the p16INK4(MTS1) gene, a cyclin-dependent kinase inhibitor, in 26 patients with HCC of different etiologies. Four patients carried hemizygous germ-line point mutations of the p16INK4(MTS1) gene, suggesting the existence of familial HCC involving this gene. The wild-type allele was lost in the tumor in 2 of these 4 patients. Three of the patients carrying a germ-line mutation had non-cirrhosis-associated HCC. No somatic mutations of p16INK4(MTS1) were observed in the 26 cases of HCC. The most common somatic alteration of the p16INK4(MTS1) gene in HCC was de novo methylation, which was detected in 48% of the cases. Low levels (21%) of p16INK4(MTS1) gene allele loss were observed. Altogether, these results indicate that alteration of the p16INK4(MTS1) gene plays an important role in the genesis of HCC.

Adult↗

Localized hyperplastic gastropathy of the mucous cell- and mixed cell-type (localized Ménétrier's disease): a report of 11 patients.

Clinical and pathologic findings in five women and six men with the rare localized form of hyperplastic gastropathy of the mucous cell-(foveolar) or mixed cell-(mucous cell and glandular) type are reported. Upper abdominal discomfort, loss of appetite, loss of weight, and anemia were the principal symptoms. Preoperative hypoproteinemia was documented in two patients. Gross findings consisted of a circumscribed area of giant folds, well demarcated from the surrounding normal-appearing mucosa, located predominantly in the corpus in six patients and predominantly in the antrum in four patients. Histologically they corresponded to an increase in the epithelial cell mass principally of mucous cells with elongated and sometimes cystically dilated foveolae, accompanied by a mild inflammatory infiltrate. This so-called localized form of hyperplastic gastropathy has been known since the first description of the disease but has gained relatively little attention in the literature. However, its recognition seems diagnostically important and pathogenetically interesting. Etiology, pathogenesis, and the natural history are mostly unknown. Five of the 11 patients had concomitant adenocarcinoma of the stomach. In four of them the carcinoma was not located within but outside the area of hyperplasia. Because of that and because of a rather unusual accumulation of other tumors of the gastrointestinal tract in these patients, it is suggested that localized hyperplastic gastropathy could be an indicator of an increased risk for gastrointestinal tumors in general more than a possibly premalignant lesion by itself.

Adenocarcinoma↗

[Necrotizing sialometaplasia of the nasal cavity].

In the present paper we report two cases of "necrotizing sialometaplasia" in uncommon locations. The relevant literature is reviewed. Necrotizing sialometaplasia is self-limiting and is characterized by necrosis and squamous pseudohypertrophy. Typically occurring in the minor salivary glands of the oral mucosa, our cases appear to be the sixth and seventh cases of involvement of the nasal cavity reported in the literature. Owing to the similarity of histological findings, the term "sialometaplasia" is also used for this disorder. This rare disease is a benign process but may be misdiagnosed as mucoepidermoid or squamous cell carcinoma. Therefore, the possibility of this disease in the nose should again be presented. Both of our cases show that with a histological examination considering defined morphological findings, the diagnosis of necrotizing sialometaplasia can be verified and a diagnosis of a carcinoma can be excluded. Especially with regard to radical and possibly unnecessary invasive therapeutic procedures we emphasize the importance of considering "necrotizing sialometaplasia" as part of the differential diagnosis of nasal lesions.

Adult↗

[Panniculitis mesenterialis, a rare disease].

Panniculitis mesenterialis is an illness of the mesenterium of the small intestine and is not familiar to all clinical physicians. The rare reports in the literature mostly describe a good outcome with a few cases ending lethal. Pathologists paying attention to detect panniculitis during postmortem examination report about an incidence of about 1%. This discrepancy may be based on the fact that only extended changes of the mesenterial fat tissue cause symptoms. The pathological base consists in extensive necrosis of fat tissue with fibrosis of the mesenterium. Aetiology is unknown, diagnosis is usually made during laparotomy. There is no specific treatment, prognosis is generally good.

Abdomen, Acute↗

Immune-mediated type A gastritis and glomerulonephritis.

The first two cases reported in the literature of patients with immune-mediated type A gastritis with microcarcinoids (as part of a polyglandular syndrome type II in one) in combination with chronic glomerulonephritis are presented. Immune-mediated type A gastritis appears to be another immunologic disorder that can be associated with chronic glomerulonephritis.

Adult↗

[Solid and cystic pancreatic tumor].

The solid and cystic tumor of the pancreas (also called pancreatic cystic tumor of the pancreas) is a very rare tumor of the pancreas, which we meet mainly in younger women. The tumor was described for the first time in 1981 and since that time there were published more than 150 cases. It is a matter of a potentially malign tumor with low malign characteristics. By radical exstirpation most of the patients can be healed definitely. Long-term controls are yet necessary although recidives are rare (4-7%), but are described up to 10 years after the first treatment. Also singular cases with synchronous metastasis of the liver are mentioned. Except of abdominal volume increase the tumor gives little trouble. The diagnosis is placed with ultrasonography resp. with a computer-tomogram and ensured by needle cytology. The therapy consists in the radical exstirpation with resection of the left pancreas in case of location on the left side, with Whipple operation in case of localisation in the head of the pancreas.

Adult↗

Pancreatic acinar cell carcinoma. An analysis of cell lineage markers, p53 expression, and Ki-ras mutation.

In a series of 22 pancreatic acinar cell carcinomas, including two acinar cystadenocarcinomas, cellular differentiation was analyzed by immunocytochemistry and electron microscopy. In addition, overexpression of p53 protein and Ki-ras codon 12 mutation was studied. Four of the 20 noncystic acinar cell carcinomas showed a pure acinar pattern, nine an acinar-solid, and seven a solid pattern. All tumors stained for at least one of the following pancreatic acinar markers: trypsin (21 of 22), lipase (19 of 22), chymotrypsin (13 of 22), phospholipase A2 (nine of 22), and pancreatic stone protein (19 of 22). One-third of the tumors expressed neuroendocrine markers (synaptophysin, eight of 22; chromogranin A, six of 21) and duct cell markers (CA19.9, nine of 21; B72.3, six of 21). Cellular coexpression of trypsin and synaptophysin was demonstrated in one tumor. Electron microscopy revealed zymogen granules (nine of nine). In only one of 16 tumors a Ki-ras mutation at codon 12 was found, whereas in none of 19 tumors could overexpression of p53 protein be demonstrated. The results suggest that acinar cell carcinomas show obvious capacity to differentiate into several directions, but nevertheless constitute an entity different from ductal adenocarcinomas or endocrine tumors.

Adolescent↗

[Adenosarcoma of the uterus].

A case of a 67-year old woman with adenosarcoma of the uterus is reported. Adenosarcoma is a mixed mesodermal tumour with a low malignant potential. It is characterised by a benign glandular and a malignant stromal component. Adenosarcomas are usually treated by hysterectomy with bilateral salpingo-oophorectomy. Patients with myometrial invasion have an increased risk of recurrence. It may be appropriate, to consider adjuvant chemotherapy or radiation treatment for these patients.

Aged↗