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Biomedical subjects

F Bergmann

Publications and source records attributed to F Bergmann.

At least 37 records · Page 2Linked to original sources
PubMed2000

Cutaneous gnathostomiasis in a woman from Bangladesh.

A woman from Bangladesh who had lived in Germany for more than 2 years presented with migratory, painful swellings on her left hand and arm of 5 months duration. Laboratory examinations yielded a marked eosinophilia and a grossly elevated IgE level in combination with an inflammatory reaction restricted to the subcutaneous tissues. A preliminary diagnosis of gnathostomiasis was established and confirmed by a positive gnathostoma serology by enzyme immunoassay (EIA). Treatment was initiated with albendazole, leading to the outward migration of a larva and complete resolution of clinical disease. Currently, there is no definitive therapy that has been proved to be both safe and highly effective. A wide range of potential agents has been used in clinical studies, but only albendazole has proved to be reliably effective to date, stimulating the outward migration of larvae in a proportion of cases of cutaneous disease, as observed in the present case.

Adult↗
PubMed2000

A reciprocal relationship between the genetic diversity at two metabolically-linked isozyme loci in several conifer species.

In the context of a general survey on genetic variation of isozyme-gene systems which function in the carbohydrate degradation and conversion, we detected a reciprocal relationship between genetic diversity at the hexokinase (HEK-A) and phosphoglucose isomerase (PGI-B) loci in Scots pine populations. Further studies on Norway spruce, Douglas-fir and Siberian stone pine revealed that this relationship appears to be a more general phenomenon in conifers such that increasing diversity at one locus is correlated with a decrease in diversity at the other locus. Since the two gene loci are not structurally linked but are encoding enzymes of two sucessive metabolic steps in the glucose conversion towards glycolysis, it is assumed that some sort of selection, especially during germination and early embryo development, may be the causal explanation. A metabolically-based model incorporating selective advantage and disadvantage of alternate two-locus genotypes at HEK-A/PGI-B was presented in order to elucidate the possible adaptive nature of this reciprocal relationship.

Genetic Linkage↗
PubMed2000

Case reports. Disseminated cryptococcoses without cryptococcal antigen detection.

During the last decade cryptococcoses were most frequently diagnosed in AIDS patients, where serologically high amounts of glucoronoxylomannan (GXM) were detectable. Disseminated cryptococcoses without cryptococcal antigen detection is unusual. Between August and October 1998 disseminated cryptococcoses were diagnosed in three patients consecutively although cryptococcal antigen was not detectable. Only one of the patients was HIV infected.

AIDS-Related Opportunistic Infections↗
PubMed2000

Molecular biology and clinical manifestation of hereditary factor VII deficiency.

Inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder. Mutations and polymorphisms of the FVII gene were characterized in more than 40 unrelated patients with FVII deficiency. Among the 29 different mutations, the most frequent were Ala294 Val, Ala294Val;404delC, IVS7+7, and Val281 Phe. Four novel mutations (IVS2+1G>C, Arg247 Cys, Glu265 Lys, Asp343 His) were detected. The relationships between genotypes of mutations and polymorphisms of the FVII gene, FVII deficiency, and clinical phenotype were investigated. Homozygosity of the Phe4 Leu, IVS4+1G>A, Cys135 Arg, Ala244 Val, and Ala294 Val;404delC and the double heterozygosity of Tyr68 Cys / IVS3-1G>A, Val252 Met / IVS2+5G>T, Val281 Phe / Cys135 Arg, Ala294 Val / Val281 Phe, Ala294 Val;404delC / Val281Phe, Ala294 Val;404delC / Arg152 stop, Ala294Val;404delC / Gln(-35) stop, Ala294 Val / Val252 Met, Ala294 Val / Gly156 Asp, and Thr359 Met / Asp242 His were related to clinical symptoms. Double heterozygotes for Arg247 Cys / IVS2+1G>C, Ala206 Thr / Pro303 Arg, Leu(-20) Pro / Val252 Met as well as IVS7+7 /Ala294 Val, IVS7+7 /Ala206 Thr, and IVS7+7 / Met298 Ile were asymptomatic. The clinical symptomatology is rather poor in correlation with the FVII activity. Concerning the clinical phanotype, a correlation seems to exist between specific mutations and clinical symptoms.

Factor VII↗
PubMed2000

[Papillary renal cell carcinoma: comparison of CT and gross morphology].

OBJECTIVE: To analyze the CT appearance of papillary renal cell tumor (pRCT) under consideration of gross pathology. MATERIAL AND METHODS: Preoperative CT-scans of 10 patients suffering from pRCT were re-evaluated by two experienced radiologists. CT appearance was correlated to gross morphology. RESULTS: On CT, 9/10 tumors were depicted as rounded, well circumscribed and sharply delineated masses. These tumors presented a hypodense central area correlating to necrosis in gross pathology. The central area of necrosis was surrounded by vital tumor tissue, presenting as a serpiginous, contrast-enhancing margin on CT. One tumor was polycyclic due to multiple tumor nodules, but sharply demarcated towards the surrounding renal tissue. CONCLUSIONS: pRCT presents a quite unique CT appearance similar to its gross pathology.

Adult↗
PubMed2000

Evaluation of phenotypic markers for selection and identification of Candida dubliniensis.

Candida dubliniensis is often associated with C. albicans in cultures. Easy-to-perform selective isolation procedures for these closely related species do not exist. Therefore, we evaluated previously described discriminatory phenotypic markers for C. dubliniensis. A total of 150 oral rinses from human immunodeficiency virus (HIV)-infected patients were cultured on CHROMagar Candida. Dark green colonies described as being indicative of C. dubliniensis and other green colonies, 170 in total, were isolated. Chlamydospore formation, intracellular beta-D-glucosidase activity, ability to grow at 42 degrees C, carbohydrate assimilation pattern obtained by the API ID 32C, and Fourier transform infrared (FT-IR) spectroscopy were used for phenotypic characterization. Sequencing of the 5' end of the nuclear large-subunit (26S) ribosomal DNA gene was used for definitive species identification for C. dubliniensis. C. dubliniensis was found in 34% of yeast-colonized HIV-infected patients. The color of the colonies on CHROMagar Candida proved to be insufficient for selecting C. dubliniensis, since only 30 of 53 proven C. dubliniensis isolates showed a dark green color in primary cultures. The described typical chlamydospore formation can give only some indication of C. dubliniensis. The assimilation pattern proved to be insufficient to discriminate C. dubliniensis from C. albicans. All C. dubliniensis strains showed no or highly restricted growth at 42 degrees C and a lack of beta-D-glucosidase activity. Unfortunately, atypical C. albicans strains can also exhibit these phenotypic traits. FT-IR spectroscopy combined with hierarchical clustering proved to be as reliable as genotyping for discriminating the two species.

AIDS-Related Opportunistic Infections↗
PubMed1999

A Convergent Strategy for the Modification of Peptide Nucleic Acids: Novel Mismatch-Specific PNA-Hybridization Probes.

Coupling of nonnatural nucleobases to the orthogonally protected backbone 1 on the solid phase provided access to novel peptide nucleic acid (PNA) conjugates 2, which are difficult to synthesize by standard routes. Hybridization probes containing the thiazolorange dye might allow DNA sequence analysis in real time. B-CH(2)CO=modified nucleobase, fluorescent dye, etc; Boc, Fmoc=protecting groups.

Journal Article↗
PubMed1999

Severe protein C deficiency and aseptic osteonecrosis of the hip joint: a case report.

UNLABELLED: Homozygous congenital protein C deficiency is accompanied by severe thrombophilia. Thrombotic events can be reduced in number and severity by lifelong oral anticoagulation therapy. A 4-year-old boy was first diagnosed as having severe congenital homozygous protein C deficiency during the neonatal period when purpura fulminans occurred as the first manifestation of thrombosis. From this time he had been treated with phenprocoumon (INR 3.5-4.5). During an infection of the upper respiratory tract he developed signs of a new episode of purpura fulminans (INR 2.6). Additional anticoagulation therapy with LMW heparin (Clexane) and protein C concentrate was given while the oral anticoagulation therapy was continued. On the third day of this episode the boy suffered from pain of unknown origin. MRI of the abdomen and of the pelvis revealed nontraumatic osteonecrosis of the hip joint. After a few weeks of immobilisation no special treatment was necessary. One year later he was able to walk with no problem. CONCLUSION: Aseptic osteonecrosis of the hip joint is associated with a variety of disorders including vascular thrombosis and haemorrhage. Especially young children and handicapped patients with thrombophilia and pain of unknown origin are suspected to have thrombosis in atypical regions.

Child, Preschool↗
PubMed1999

Polyploidization and losses of chromosomes 1, 2, 6, 10, 13, and 17 in three cases of chromophobe renal cell carcinomas.

Clonal chromosome aberrations identified after short-term culture are presented for three cases of chromophobe renal cell carcinomas (RCC). All tumors revealed abnormal karyotypes with a varying proportion of polyploid tumor cells. Common numerical abnormalities were combined losses of chromosomes 1, 2, 6, 10, 13, and 17. Clonal karyotypic evolution was demonstrated in one case in which several related clones could be identified. An additional balanced translocation t(3;14)(p24;q22) observed in this case proved to be of constitutional nature by cytogenetic analysis of normal kidney cells and peripheral blood lymphocytes. These cytogenetic findings provide further evidence that chromophobe renal cell carcinomas are characterized by a highly specific combination of chromosomal losses most commonly including chromosomes 1, 2, 6, 10, 13, and 17.

Adenocarcinoma↗
PubMed1999

Papillary renal cell carcinoma with clear cell cytomorphology and chromosomal loss of 3p.

AIMS: Cytogenetic studies on renal cell carcinomas (RCCs) have disclosed a correlation between chromosome aberrations and histomorphological features. Nevertheless, it is still controversial whether the cytomorphology of the tumour cells (clear cell, chromophilic, chromophobe) or their growth pattern (nonpapillary, papillary) is more discriminative for the combined histomorphological-cytogenetic classification of RCCs. METHODS AND RESULTS: Three RCCs with papillary growth pattern and clear cell cytomorphology were analysed by classical cytogenetics using standard G-banding techniques. Each tumour displayed clonal aberrations leading to loss of terminal 3p chromosomal segments. Monosomy 14 was also consistently found. Trisomy 17 was not observed in any of the tumours. CONCLUSIONS: This series of three RCCs consisting of clear cells with papillary architecture revealed chromosomal aberrations characteristic for the conventional (clear cell) RCC. Irrespective of the predominant papillary growth pattern, none of the cases were characterized by trisomy of chromosomes 3q, 7, 8, 12, 16, 17 and 20 and loss of Y chromosome which are widely regarded as the most consistent genetic alterations for papillary RCC. Therefore, our cytogenetic findings provide evidence that papillary clear cell RCCs should be classified according to their cytomorphology rather than their growth pattern even when papillary architecture is prominent.

Adult↗
PubMed1999

Thoracic computed tomography of patients infected with the human immunodeficiency virus: relevance for the course of disease.

To determine the diagnostic accuracy and prognostic implications of thoracic computed tomography (CT) in patients with human immunodeficiency virus infection (HIV), CT scans of 154 HIV-infected patients (mean age, 41 years; range 23-65 years; 18 female) with suspicion of pulmonary disease were retrospectively reviewed for signs of disease by two investigators blinded to clinical data other than positive HIV serology. Abnormal CT features were correlated with CD4-T lymphocyte count, histologic or microbiologic diagnosis, and survival. Computed tomography detected features of pulmonary disease in 133 patients. A recent chest film was available in 96 patients, and it was normal in 16. In 17 of 99 patients (17%) with histologic or microbiologic correlation, pathologic CT features could be demonstrated, though histologic and microbiological studies were unrevealing. Median survival was 649 days. Confluent pulmonary infiltrates and bilateral masses on CT indicated advanced disease with a median survival of 115 days (n = 11, p = 0.0005) and 174 days (n = 15, p < 0.0001), respectively. The authors concluded that thoracic CT detects pulmonary lesions in an appreciable portion of HIV-infected patients in whom chest radiographs, microbiologic methods, or histology failed to establish a diagnosis, and that CT findings allow for an estimation of patient survival in acquired immunodeficiency syndrome.

Adult↗
PubMed1998

Characterization of a newly established endometrial stromal sarcoma cell line.

We describe a newly established human sarcoma cell line derived from an endometrial stromal sarcoma (ESS). The cell line has been maintained in long-term cell culture for more than 2 years. It has been repeatedly analyzed in terms of morphology, immunocytochemical features, ultrastructure and karyotypic characteristics. In contrast to uniform endometrial stromal differentiation in vivo, the tumor cells were shown to display distinct phenotypical heterogeneity in vitro. In addition to the predominant cell type, which retained sarcomatous differentiation, foci of epithelial-like cells were observed in the cell culture. Immunocytochemical and ultrastructural analysis demonstrated a mainly mesenchymal phenotype with signs of epithelial characteristics, such as expression of cytokeratins, and the presence of desmosomes and kinetocilia, respectively. Cytogenetic analyses in early and late passages revealed unbalanced translocations between chromosomes 3 and 6 and an additional i(19)(q10), as common karyotypic changes in all tumor cells, indicating a monoclonal origin. Our new cell line can be used as an in vitro model to study the mechanisms of heterogeneous differentiation patterns in ESS.

Aged↗
PubMed1998

Solitary enchondroma with clonal chromosomal abnormalities.

We report a case of a solitary enchondroma located in the head of the left fibula in a 50-year-old patient and present the findings of histopathologic investigation and cytogenetic analysis. The tumor revealed simple karyotypic abnormalities with t(8;17)(q23;p13) and loss of chromosomes 9, 19, and 22 as clonal chromosomal changes. Only a few enchondromas with chromosome aberrations have been published previously; nevertheless, it appears that benign and malignant cartilaginous tumors may have similar chromosomal abnormalities.

Bone Neoplasms↗