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Biomedical subjects

S Dertinger

Publications and source records attributed to S Dertinger.

11 recordsLinked to original sources

[Hyperparathyroidism -- a differential diagnosis of cystic bone tumors].

Clinical manifestations of primary hyperparathyroidism include neuromuscular, intestinal, and osseous symptoms with osteolytic lesions of the bone and pathological fractures. In most cases a primary adenoma of the parathyroid gland leads to an increased production of the parathormone with subsequent osteoclastic bone catabolism. Surgical treatment entails removal of the parathyroid adenoma. We present a female patient and the possible diagnostic and differential diagnostic difficulties encountered in interdisciplinary management.

Acetabulum↗

Actinomyces neuii and neonatal sepsis.

Actinomyces neuii belongs to the coryneform bacteria. In the case presented here this gram-positive rod had to be considered the pathogen causing not only the chorioam nionitis but also the neonatal sepsis. Conventional therapeutic regimes are effective due to the high sensitivity of A. neuii to beta-lactam antibiotics.

Actinomyces↗

R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis.

Hereditary pancreatitis is due to heterozygosity for gain-of-function mutations in the cationic trypsinogen gene which result in increased levels of active trypsin within pancreatic acinar cells and autodigestion of the pancreas. The number of disease-causing defects is generally considered to be low. To gain further insight into the molecular basis of this disorder, DNA sequence analysis of all five exons was performed in 109 unrelated patients with idiopathic chronic pancreatitis in order to determine the variability of the underlying mutations. Two German females and one German male were carriers of the most common N29I and R122H mutations (trypsinogen numbering system). In a Turkish proband, an arginine (CGT) to cysteine (TGT) substitution at amino acid position 116 was identified. Family screening demonstrated that the patient had inherited the mutation from his asymptomatic father and that he had transmitted it to both of his children, his daughter being symptomatic since the age of 3 years. In addition, a German male was found to be a heterozygote for a D100H (GAC-->CAC) amino acid replacement. Our data provide evidence for genetic heterogeneity of hereditary pancreatitis. The growing number of cationic trypsinogen mutations is expected to change current mutation screening practices for this disease.

Adult↗

De-differentiated chondrosarcoma is not a 'de-differentiated' chondrosarcoma.

AIMS: De-differentiated chondrosarcoma is characterized by the presence of two distinct chondroid and nonchondroid tumour portions. The aim of our study was to investigate the distribution of extracellular matrix components in this tumour entity and thus to shed light on its histogenetic origin. METHODS AND RESULTS: Histochemical and immunohistochemical analyses were performed for collagen subtypes I, II, III and VI and cartilage proteoglycans in three samples of de-differentiated as well as conventional chondrosarcomas (various grades). In the chondroid tumour areas of de-differentiated chondrosarcoma, typical cartilage matrix components could be detected similar to chondroid areas of grade 1 and 2 conventional chondrosarcomas. In contrast, the tumour matrix of the nonchondroid portions of de-differentiated chondrosarcomas contained matrix molecules which are typical for fibroblastic tissue. This matrix composition was not identical with less differentiated (nonchondroid) areas of grades 2 and 3 conventional chondrosarcomas. CONCLUSIONS: Our results confirm the chondroid nature of the differentiated portion of de-differentiated chondrosarcoma and indicate a nonchondrocytic nature of the nonchondroid portion. De-differentiated chondrosarcoma should not be considered as a 'de'-differentiated chondrosarcoma (grade 4 neoplasm), but as a tumour entity showing two types of mesenchymal differentiation.

Adult↗

Type X collagen expression and hypertrophic differentiation in chondrogenic neoplasias.

Little is known about matrix biochemistry and cell differentiation patterns in chondrogenic neoplasms. This is the first description of the focal expression of collagen type X by neoplastic chondrocytes in situ and its incorporation into the extracellular matrix of cartilaginous tumors. This shows that neoplastic chondrocytes have the potential to undergo the full program of cell differentiation, including hypertrophy, comparable to their physiological counterparts in the growth plate. However, only in benign osteochondromas was a zonal expression of type X collagen found similar to that observed in the growth plate, where the cells immediately above the ossification frontier are selectively positive for type X collagen. In enchondromas and chondrosarcomas, the expression was randomly distributed within the tumors. Surprisingly, in less differentiated chondrosarcomas with spindle-shaped cells and non-cartilaginous extracellular matrix, exceptional expression of collagen type X was observed, which indicates potential uncoupling of collagen type X expression from the differentiated chondrocytic phenotype in neoplastic chondrocytes in vivo.

Bone Neoplasms↗

Phenotypic diversity of neoplastic chondrocytes and extracellular matrix gene expression in cartilaginous neoplasms.

Chondrocyte differentiation is characterized by distinct cellular phenotypes, which can be identified by specific extracellular matrix gene expression profiles. By applying in situ analysis on the mRNA and protein level in a series of benign and malignant human chondrogenic neoplasms, we were able to identify for the first time different phenotypes of neoplastic chondrocytes in vivo: 1) mature chondrocytes, which synthesized the characteristic cartilaginous extracellular tumor matrix, 2) cells resembling hypertrophic chondrocytes of the fetal growth plate, 3) cells resembling so-called dedifferentiated chondrocytes, and 4) well differentiated chondrocytic cells, which expressed type I collagen, indicating the presence of post-hypertrophic differentiated neoplastic chondrocytes. Chondrocytes exhibiting a range of phenotypes were found to be present in the same neoplasm. The different observed phenotypes, including the dedifferentiated phenotype, were in contrast to the anaplastic cells of high-grade chondrosarcomas. Comparison of expression data with tumor morphology revealed a relationship between the cellular phenotypes, the tumor matrix composition, and the matrix and cell morphology within the neoplasms. The distinctly different phenotypes of neoplastic chondrocytes are the basis of the characteristic high biochemical and morphological heterogeneity of chondroid neoplasms and shed light on their biological and clinical behavior.

Aggrecans↗

[Changes in regional CNS perfusion in obstructive sleep apnea syndrome: initial SPECT studies with injected nocturnal 99mTc-HMPAO].

Some of the clinical features of obstructive sleep apnoea syndrome (OSA) are suggestive of impaired cerebral blood flow. Cerebral blood flow alterations might, for example, be responsible for headaches, which are frequent complaints in patients with OSA. Even the high frequency of ischaemic cerebral complications in patients with OSA might be caused in part by sleep apnoea-associated impairment of cerebral perfusion. Previous studies have demonstrated reduced total cerebral blood flow in patients with OSA, but regional changes of cerebral perfusion have not been studied up to now. We performed SPECT studies using 99mTc-(d,l)-hexamethyl-propylenaminoxim (HMPAO) as a tracer in 14 adult patients with moderate to severe OSA (AHI > 30/h; mean AHI 59.2 +/- 4.3). The injection of the tracer took place between 2:00 and 4:00 a.m. while repeated episodes of obstructive apnoea were detected by polysomnography during stage II sleep. Data acquisition took place at 7:30 a.m. All measurements were repeated some nights later under effective treatment with nCPAP. Visual analysis showed marked frontal hyperperfusion in 5 patients. When regional perfusion indices were calculated for 32 regions of interest statistical analysis showed reduced perfusion of the left parietal region. These changes were completely reversed by effective nCPAP therapy. These data suggest that OSA is associated with reversible changes of regional cerebral perfusion. The underlying pathophysiologic mechanisms are matter of speculation so far. There might be an apnoea-associated effect of local vascular autoregulation mechanisms acting to compensate systemic blood flow alterations or blood gas changes in OSA. The observed frontal hyperperfusion might be caused by activation of the frontal lobe by repetitive cortical arousals.

Adult↗

Chondrocytic cell differentiation in clear cell chondrosarcoma.

Clear cell chondrosarcoma is a rare mesenchymal neoplasm of unclear differentiation. Besides having a chondrogenic nature, an osteogenic differentiation was also proposed. In this study, expression analysis of extracellular matrix genes, which are specific for different mesenchymal cell differentiation pathways, were used to get a better understanding of origin and differentiation pattern of the clear cell chondrosarcoma tumor cells. Our in situ analysis of two cases shows that (1) chondrocytic cell differentiation as marked by the expression of cartilage collagen type II and proteoglycans is a characteristic feature within the development of the neoplasm, (2) multifocal chondrocyte hypertrophy as shown by the expression of type X collagen does occur, and (3) no significant expression of collagen type I, the main gene product of osteoblastic cells, is found by the neoplastic cells. Thus, our study indicates that clear cell chondrosarcoma shows a chondrogenic, but not osteogenic, differentiation and represents a true chondrosarcoma. The unusual scarcity of its extracellular and the multifocal expression of type X collagen marks clear cell chondrosarcoma as a chondrosarcoma tumor entity of a particular cell differentiation pattern. The expression of cartilage type collagens represents a distinct marker from bone metastases of clear cell neoplasms of other origins.

Adult↗

[Presacral phlegmons and meningitis as the complications of a foreign body in the rectosigmoid].

A 24-year-old patient presented with severe back pain in the lumbar and sacral regions and septic temperatures up to 40 degrees C. Lasègue's sign was bilaterally positive. An enhanced cell count was seen in the CSF (1877 cells/microliters, erythrocytes 1024/microliters). Total protein concentration was 4440 mg/dl. The patient also suffered from granulocytic pleocytosis. X-ray as well as scintigrams revealed inflammation of the presacral soft parts involving the os sacrum and bone marrow. Treatment with doxycycline (200 mg/d), fosfomycin (5 g/d), netilmicin (400 mg/d) and ofloxacin (200 mg/d) succeeded in curing the meningitis, whereas the presacral phlegmon persisted. Endoscopic examination showed a rod-shaped foreign body in the rectum that had penetrated deeply into the mucosa and required deformation and removal by laser. The plastic rod of 10 cm length was probably a liquorice stick. The patient denied introducing it per anum; he suspected having swallowed it while drunk. The inflammation subsided rapidly after removal of the foreign body.

Adult↗