Search PubMed⌕ Search

Biomedical subjects

A Nerlich

Publications and source records attributed to A Nerlich.

144 records · Page 8Linked to original sources
PubMed1987

Compositional analysis of collagen from patients with diverse forms of osteogenesis imperfecta.

Collagen was extracted by pepsin treatment from various tissues and skin fibroblasts of 23 patients belonging to different types of osteogenesis imperfecta (OI), and characterized by molecular sieve and ion exchange chromatography, gel electrophoresis, and amino acid analysis. We found an elevated collagen III/I ratio in the skin of one patient with OI type I but almost normal values in skin fibroblasts of two other patients of this OI type. Five patients with OI type II had a normal collagen III/I ratio in their skin and skin fibroblasts, but the degree of hydroxylation of lysine residues in collagen I and III from their skin, bone, calvarium, and noncalcified calvarial tissue was increased. Patients belonging to OI types II, III, and IV had also considerable amounts of collagen III in their long bones, while bone tissue from controls contained only type I collagen. The content of type V in calcified tissues was virtually the same in controls and patients.

Adolescent↗
PubMed1987

[Prenatal diagnosis of non-viable fetuses caused by developmental disorders--an indication for abortion for fetal reasons?].

Between October 1st 1983 and January 31st 1986 we diagnosed various anomalies on 116 foetuses at the Department of Obstetrics and Gynaecology, Klinikum Grosshadern, Munich. In 103 cases we made a correct diagnosis. This group of patients included 45 non-viable foetuses. Severe anomalies of the foetal central nervous system and lethal dwarfism were diagnosed correctly. On the other hand, antenatal diagnosis of bilateral nonfunctional kidneys and non-correctable cardiac malformations poses problems. We feel that in the case of a definitive prenatal diagnosis of an anomaly for which there is no known medical treatment and which is not compatible with life, the decision as to further procedure should be made at this stage. Before 24 weeks gestation, termination of pregnancy on foetal grounds should be discussed with the parents. Thereafter, preterm labour is preferable to the dangers of obstructed labour at term and should be conducted without foetal monitoring.

Abortion, Eugenic↗
PubMed1987

[Significance of sonographic diagnosis of fetal abnormalities of the urinary tract].

Out of 5,209 fetuses, routinely screened at our prenatal clinic 56 fetuses with malformations of the urinary tract were diagnosed. In 37 cases dilatation of the urinary tract was found. Five fetuses presented with unilateral multicystic kidneys whereas 3 fetuses suffered from bilateral polycystic kidney disease and 11 were found to have bilateral non-functioning kidneys. Prenatal diagnosis of dilatation of fetal urinary tract and of unilateral multicystic kidneys allows referral of these newborns for further urological evaluation before symptoms are present. Refinement in prenatal diagnosis of bilateral polycystic kidney disease and bilateral non-functioning kidneys helps evaluating fetal viability.

Amniotic Fluid↗
PubMed1984

Ehlers-Danlos syndrome type VI: collagen type specificity of defective lysyl hydroxylation in various tissues.

The Ehlers-Danlos syndrome type VI is an inherited disorder of collagen metabolism characterized by a defective lysyl hydroxylase. The resulting lack of hydroxylysine has been found in several connective tissues, all of which show varying degrees of clinical symptoms. In the present study, collagen was isolated from different connective tissues and the degree of hydroxylation of lysyl residues was determined. Subsequently, collagen types I, II, III, IV, and V have been prepared from a number of tissues. Insufficient hydroxylation of lysyl residues was found in type I and type III collagen, whereas types II, IV, and V showed normal amounts of hydroxylysine. The expression of the defect, even for type I and type III collagen, varied widely from one tissue to another. A complete lack of hydroxylysine was observed in skin, while it was less pronounced in tissues such as bone, tendon, lung, or kidney. The data suggest the presence of several isoenzymes having varying affinities to the different collagen types.

Adult↗
PubMed1984

Congenital fascial dystrophy--a noninflammatory disease of fascia: the stiff skin syndrome.

Our patient's disease was similar to the persons with stiff skin syndrome described by Esterly and McKusick (1). Stony-hard indurations of the skin and deeper tissue were generalized but most pronounced in the buttocks, thighs, and legs, with limitation of joint mobility and particularly extensive contractures in the lower limbs. The disease was noticed when the patient was 18 months old, and was nonprogressive within a follow-up period of 12 years. There was no visceral involvement except functional impairment of the lungs, probably due to thickened thoracic fascia. Biochemical, histologic, and electron microscopic studies of the skin and muscle were not remarkable. In skin fibroblasts, collagen synthesis was increased and was accompanied by elevated activity of the prolylhydroxylase and lysylhydroxylase, whereas the transferases were not altered. The fascia was considerably thickened, but contained no inflammatory infiltrates. The significant electron microscopic finding was the presence of amianthoid-like collagen fibers in the fascia.

Biopsy↗
PubMedDate not supplied

[Stimulation of degenerative changes in the intervertebral disc through axial compression. Radiologic, histologic and biomechanical research in an animal model].

Degeneration of the intervertebral disc is a common disease in the adults, especially at advanced age. A causal therapy is not known, but the progress in new therapeutic strategies, for example in tissue engineering, shows new possibilities. The goal of our study was to develop a new animal model that stimulates a load induced degeneration of the disc. We used the New Zealand rabbit, because morphology is similar to the human intervertebral disc. The degeneration was induced by axial compression of the disc L4 - L5 with an external fixateur. After different loading intervals, the animals were sacrified and the discs examined by radiology, histology, apoptosis and biomechanical testing. Radiography showed a significant decrease of the disc thickness in all loaded groups. Morphologically the intervertebral discs of loaded rabbits showed degenerative changes which were comparable to those in humans. A significantly increased number of dead cells in the annulus occurred after 14 and 28 days loading compared to the controls. The bending stress measured as the load to failure was not significantly different between the unloaded discs and the 28 days loaded discs. The results show that our animal modell can create degeneration. Four weeks compression leads to significant degeneration. Degeneration of the discs persisted in animals that were allowed a recovery time of 28 days after 28 days of loading.

Animals↗
PubMedDate not supplied

[Primary leiomyosarcoma of the bone].

In a 52-year-old female patient and a 50-year-old patient with a malign tumor of the right distal femur (stage IIIb) respectively the left distal tibia (stage Ia according to Enneking), the extremely rare primary leiomyosarcoma of the bone was diagnosed. The mortality of the primary leiomyosarcoma of the bone is 50%, the mean survival time after diagnosis is 3.4 years. Diagnosis of a primary leiomyosarcoma of the bone is only possible after a secondary leiomyosarcoma has been excluded as well as by histopathological including immunohistochemical examination. The operative procedure is the therapy of choice. A neoadjuvant and/or adjuvant radio- or chemotherapy can be useful.

Angiography↗
PubMedDate not supplied

[Preferential sites for rupture of the long head of the biceps tendon].

The extreme stress on the long head of the biceps tendon is defined by its specific anatomical situation with near contact to the rotator cuff, to the sulcus intertubercularis and to the acromion. We took 74 specimens from cadavera and studied the macromorphological and cross-sectional anatomy to analyze changes preceding rupture of the biceps tendon. Degenerative tendon alterations with disorganized collagen fibers and large mucoid deposits occurred especially at the distal sulcus bicipitalis and near the origin of the tendon at the superior part of the glenoid labrum. The found degenerative histological alterations are possibly precursor of tendon rupture near to the distal sulcus or precursor of the so called "SLAP"-lesions.

Adult↗
PubMedDate not supplied

[Primary manifestation of hepatocellular carcinoma as osteolytic hand metastasis--a case report].

Osseous metastases to the hand are very rare. Only a single case of osseous metastasis of hepatocellular carcinoma to the hand has been reported in the literature to date. We report a case of osteolytic metastasis of the right first metacarpal as first manifestation of unresectable, alpha-fetoprotein-negative hepatocellular carcinoma (pT3, Nx, M1, UICC stage IVB, Okuda's stage I). The therapy consisted of R0-resection and hormonal therapy with tamoxifen 2 x 10 mg/d orally. Generally patients with metastatic cancer to the bones of the hand have a very poor prognosis.

Bone Neoplasms↗
PubMedDate not supplied

Metastasizing cervical teratoma of the fetus.

We present one case with a metastasizing cervical teratoma in a newborn infant who died of respiratory failure due to extensive cervical tumor masses and multiple pulmonary tumor metastases. This case provides evidence that very rarely malignant behavior may occur in congenital cervical teratomas, the prenatal diagnosis of which may be important for any further therapeutic management.

Adult↗
PubMedDate not supplied

Chest wall hamartoma in infancy: a case report with immunohistochemical analysis of various interstitial collagen types.

We present one case of a chest wall hamartoma diagnosed in a 4-week-old boy. This entity is an extremely rare but characteristic congenital malformation of the ribs in infancy. To avoid maltreatment, it has to be distinguished from benign and malignant neoplasms on the basis of distinct histological features presented here. The immunohistochemical localization of various collagen types supports the notion of the hamartomatous nature of this lesion.

Collagen↗
PubMedDate not supplied

Expression of TGF-beta 1 protein and mRNA and the effect on the tissue remodeling in laryngeal carcinomas.

TGF-beta is one of the most effective suppressors of cell proliferation and acts as a potent inducer of matrix formation by promoting the neosynthesis of the extracellular matrix and inhibiting the synthesis of matrix degrading enzymes. In this study we analysed the expression of TGF-beta 1 protein and mRNA in normal laryngeal mucosa and in invasive laryngeal carcinomas, to find out any differences in the amount of expressed TGF-beta 1 and to identify the cells which are actively involved in the synthesis of TGF-beta 1. In addition, we analysed the biological effect of TGF-beta 1 on the rate of tumor cell proliferation and the amount of neosynthesis of the extracellular matrix. The study comprised a series of 24 laryngeal squamous cell carcinomas (SCC) of different degree of tumor cell differentiation and 10 cases of normal laryngeal mucosa, which was immunhistochemically analyzed using antibodies against TGF-beta 1, the cell proliferation antigen Ki-67 (Mib-1 antibody) and major interstitial collagen types (III, V, VI) and tenascin. The TGF-beta 1-mRNA was identified by non-radioactive in-situ hybridization using a 360bp cDNA-clone for TGF-beta 1. All immunostainings and the in-situ hybridization were quantitatively evaluated by morphometric analysis and subjected to a statistical evaluation. In the normal laryngeal mucosa we found TGF-beta 1 protein mainly in the suprabasal epithelial cell layer and in some stroma cells below the epithelium. The mRNA of TGF-beta 1 was located in the basal cell layer of the normal mucosa as well as in the stroma cells next to the squamous cell epithelial. All cases of invasive carcinoma analysed showed a positive cytoplasmatic staining for TGF-beta 1 in the tumor cells as well as in stroma cells with a significantly more intense staining in the tumor cells than in the stroma cells. The in-situ hybridisation for TGF-beta 1-mRNA provided also positively stained tumor as well as stroma cells. Again, the amount of positively labeled tumor cells outnumbered the amount of stained stroma cells. In addition, we found a dramatic increase of the proliferation index in the invasive laryngeal carcinomas which was correlated with the amount of TGF-beta 1 expression. The collagens III, V and VI as well as tenascin were found strongly in the invasive carcinomas when compared to the normal mucosa, with statistically positive correlation. In conclusion, we found that invasive tumor growth of the larynx is associated with an increase of the TGF-beta 1 protein and mRNA expression. The synthesis of TGF-beta 1 is mainly performed by the tumor cells, but also to a lesser extent by the stroma cells. We provide evidence, that the TGF-beta 1 is biologically active on the neofomation of extracellular matrix components. In contrast the lack of a suppressive effect on the proliferative capacity of the tumor cells, indicates a "dissociation" of the TGF-beta effect in SCCs. A possible reason for this dissociation may lie in a partial dysfunction of the TGF-beta receptors of the tumor cells or in defects of the intracellular signaling pathways.

Adult↗
PubMedDate not supplied

Fine needle aspiration cytodiagnosis of epidermoid cysts of the spleen. Report of two cases.

Fine needle aspirates of incidentally observed splenic cysts in two young women showed large numbers of squamous cells with pyknotic nuclei but no atypia, resulting in cytodiagnosis of epidermoid cysts of the spleen. This was confirmed in one case by immunocytochemical staining and histologic examination. The origin and differential diagnosis of epidermoid cysts of the spleen are briefly discussed.

Adolescent↗
PubMedDate not supplied

CT of the "Tegernsee Giant": juvenile gigantism and polyostotic fibrous dysplasia.

We report the radiological findings in the unusual case of the Bavarian "Tegernsee Giant." With conventional radiography, CT, and histologic examination, we succeeded in diagnosing two disorders: The Tegernsee Giant suffered from (a) juvenile gigantism caused by a growth hormone-secreting tumor of the pituitary gland and (b) a polyostotic form of fibrous dysplasia of the skull and multiple bones particularly on the left side of the body.

Adult↗
PubMedDate not supplied

Sex chromosome determination in extragonadal teratomas by interphase cytogenetics: clues to histogenesis.

Teratomas are neoplasms that are composed of tissues from all three germinal layers. The exact histogenetic origin of teratomas, however, is still controversial. In order to gain more insight into histogenesis of extragonadal teratomas (EGTs), the gonosomal status in 13 congenital EGTs was studied by means of interphase cytogenetics using nonradioactive in situ hybridization (NISH) with centromere-specific DNA probes. By use of this technique a direct correlation of cytogenetic results with morphology was possible. In all EGTs analyzed the gonosomal status in tissues derived from the different germinal layers was identical to that of the nontumorous fetal and placental tissue. This was true irrespective of localization, age, histological type, and classification of the EGT. Our results strongly suggest that EGTs arise from pluripotent diploid precursor cells, for example, either premeiotic germ cells that have not yet undergone the first meiotic division or pluripotent ectopic embryonal or extraembryonal cells. Our data do not support the theory of parthenogenetic EGT development, at least in males.

Cell Differentiation↗
PubMedDate not supplied

Congenital alveolar capillary dysplasia: rare cause of persistent pulmonary hypertension.

We report on a rare case of fatal congenital alveolar capillary dysplasia. The newborn boy of a 37 weeks' normal gestation suffered from persistent pulmonary hypertension without any cardiovascular malformation and died at the age of 4 weeks despite intensive treatment. The autopsy tissue was examined histologically, immunohistochemically, and ultrastructurally. Moreover, a three-dimensional tissue reconstruction based on serial sections was performed comparing the affected lung with normal lung tissue. We observed a unique pattern of pulmonary dysplasia: An extreme decrease of capillaries was localized centrally within thickened intra-acinar septa instead of capillaries intensely neighboring pneumocytes; ectatic veins normally running in the interlobular septa were found to accompany intralobular bronchovascular bundles, denying a clear distinction between pulmonary and bronchial veins; small muscular pulmonary arteries extended to the precapillary level and type 2 pneumocytes exceeded by far the type 1 pneumocytes, inverting the normal ratio. In summary, alveolar capillary dysplasia is assumed to be a primary capillary disorder of unknown origin, which possibly involves the regular differentiation of pneumocytes, according to the close alveolocapillary relationship during pulmonary ontogenesis. We consider the venous alterations as being part of the dysplasia, whereas the arterial phenomena might occur secondarily. Recent reports on affected siblings suggest a genetic component of pathogenesis.

Bronchopulmonary Dysplasia↗