Congenital myopathy with arrest of myogenesis prior to formation of myotubes.

We report a novel type of congenital myopathy, which is characterized by an early arrest of muscle formation prior to formation of myotubes. A female infant born prematurely at 32 weeks of gestational age died after six weeks of continuous ventilatory support. Various muscle specimens including quadriceps, deltoid, pectoral, neck, psoas, tongue, and diaphragm musculature were studied. Light and electron microscopy revealed well-demarcated fascicular structures interspersed with undifferentiated, mononuclear myogenic cells. Multinucleated myotubes and muscle fibres were not detectable, pointing towards a defect prior to the generation of myotubes during myogenesis. Immunohistochemistry identified the absence of dystrophin, N-CAM, MyoD and myogenin expression in these myogenic cells, compatible with a block of the complex transcriptional network necessary for correct embryonic muscle formation at an early stage of muscle development. These myopathological findings were absent in cardiac muscle, indicating that the defect exclusively affects skeletal muscle formation.

[Carcinoid tumors of the lung and asbestos. Clinical aspects for insurance medicine]. / Karzinoidtumoren der Lunge und Asbest. Versicherungsmedizinische Aspekte.

Lung dust analyses were performed on tumor-free lung tissue from surgical samples of 28 carcinoid tumors. The measured levels in one surgical sample may easily be correlated with the increased asbestos load of the lung due to the patients' occupation as stone mason. No evidence supporting the correlation of increased chronic asbestos load of the lungs and the development of typical carcinoid tumors of the lung was found.

[Extensive metastatic Kaposi sarcoma in chronic immune suppressed bronchial asthma]. / Ausgedehnt metastasiertes Kaposi-Sarkom bei chronisch immunsupprimiertem Bronchialasthma.

In a severely ill 64-year-old man with multilocular Kaposi sarcoma HIV infection was excluded. The decisive factor in the pathogenesis, was long-term immunosuppression with systemic corticosteroids for bronchial asthma. The patient died from cardiorespiratory insufficiency in the course of tumour progression. Autopsy revealed a vast visceral manifestation of Kaposi sarcoma.

[Rupture of a renal artery aneurysm. Fulminant course, fatal complication of type IV Ehlers-Danlos syndrome in childhood]. / Ruptur eines Nierenarterienaneurysmas. Fulminant verlaufende, letale Komplikation eines Ehlers-Danlos-Syndroms Typ IV im Kindesalter.

A 12 year old girl with joint laxity, hyperelastic and vulnerable skin and tall stature was labeled as "Marfan syndrome". She died unexpectedly from a ruptured aneurysm of the right renal artery. All these features are typical for Ehlers-Danlos syndrome type IV. The diagnostic difficulties and the classification of connective tissue disorders are discussed and further possible complications are reviewed from the literature. The importance of an exact diagnosis is stressed in order to assess the prognosis and start possible therapeutic measures as early as possible.

[Pulmonary histiocytosis X]. / Pulmonale Histiozytosis X.

This is a report on 2 adult patients suffering from pulmonary histiocytosis X. The aetiology and the diagnostic and therapeutic approach are discussed on the basis of a review of the literature. This is a rare disease that is triggered by a virus and immunologically conditioned, the disposition being genetically transferred. It is characterised by cells known as histiocytosis X cells with typical X bodies and immunocytochemically identifiable S 100 antigen. It will usually be necessary to perform an open biopsy of the lung to determine the histology of histiocytosis X. Roentgenologically pathognomonic signs are in particular ring-shaped structures of up to 5 mm diameter with a marginal edge. Lung function analysis revealing hypoxaemia after stress and, less significantly, diffusion capacity and vital capacity, are also among the most sensitive data pointing to histiocytosis X. Indication for treating the patients, who usually do not display prominent signs and symptoms, should be discrete because spontaneous remissions occur very frequently. If the patients display relevant signs and symptoms, corticosteroid long-term treatment over 12 months with 0.5-1.0 mg/kg body weight per day is recommended employing a slowly and progressively reduced dosage schedule. Chemotherapeutic drugs or thymus extracts are administered in a few rare instances.

Differential diagnosis of verrucous carcinoma in the oral cavity and larynx.

Two cases of local metastasing verrucous carcinoma (oral cavity and larynx) are presented. Difficulties in the histological diagnosis are demonstrated. Histological criteria of verrucous carcinoma are discussed in comparison to leucoplakia, papilloma, pseudoepitheliomatous hyperplasia, verrucous hyperplasia, and highly differentiated squamous cell carcinoma (grade 1). The importance of correct diagnosis for further diagnostic and therapeutic procedures is pointed out.

Is there any tubular secretion of protein?

Immunohistological investigations performed with the PAP method on tubular casts in the thick Henle loops and in the distal convoluted tubules led to the following results. 1) In control kidneys, casts consisting of sIgA and IgM occur, mostly isolated, in 30% and 20%, respectively, of cases. On the other hand IgG casts, likewise isolated, are only observed in 7% of cases. 2) In the case of mesangioproliferative glomerulonephritis of the IgA and non-IgA nephritis type, casts consisting of sIgA and IgM are observed more often than in control kidneys, especially when the serum creatinine concentration exceeds 1.3 mg%; i.e., the glomerular filtration is reduced. 3) In kidneys with inflammatory and non-inflammatory glomerular diseases which had led to nephrotic syndrome, casts consisting of sIgA and IgM are not observed more often than in kidneys with glomerulonephritides which had not been accompanied by nephrotic syndrome. 4) In kidneys with severe impairment of the excretory function (rapidly-progressive glomerulonephritis, primary malignant nephrosclerosis, acute renal failure) casts consisting of sIgA and IgM are observed more often than in controls but not more often than in IgA and non-IgA nephritides with increased serum creatinine concentration. 5) In kidneys which had become aglomerular as a result of scarring of the glomeruli, with atrophic proximal tubules and preserved epithelia of the ascending loop of Henle, casts consisting of sIgA and IgM as well as secretory component occur in a large quantity.(ABSTRACT TRUNCATED AT 250 WORDS)

[Thymoma--a retrospective study of 48 cases]. / Thymome--Eine retrospektive Studie über 48 Fälle.

Of the 48 thymomas operated on between 1968 and 1985 50% were associated with myasthenia gravis, in 25% diagnosis was made due to accidental X-ray findings. In the staging according to Masaoka et al. [10] the following distribution was noted: I:22, II:5, III:18, IV:3. The 5-year survival rate of the 37 curatively resected patients was 78.5% (stage I: 88.6%, stage III: 55.6%). No stage III patient with residual tumor survived more than 2 years. Predominantly epithelial tumors had a significantly worse prognosis as compared to those with lymphocytic predominance. None of the 4 patients with category II thymoma survived more than 15 months. Association with myasthenia proved to have a negative prognostic influence in stage I and II patients. Frequency of local recurrences and metastases is documented. The value of irradiation and chemotherapy is discussed.

Electron microscopic study of pyelointerstitial reflux scars.

In addition to confirming the established light microscopic findings, electron microscopic assessment of renal tissue with pyelointerstitial reflux damage also provides other important information. Isolated tubular epithelial cells and small tubular epithelial cell complexes, the earliest formative phase of thyroid-like lesions, were observed after subtotal tubular destruction. Moreover, secretory granule-like structures, identified by immunohistologic methods as renin granules, were found in tubular epithelium, apparently atrophic and cell-rich glomeruli, and walls of tortuous arterioles. Various stages of glomerular scarring were documented in the early phase of glomerular destruction and electron-dense material (IgM) was identified. Electron microscopy plays an important role in differentiating thin-walled vessels (lymphatic vessels, capillaries, venules). While the presented findings are characteristic for reflux nephropathy, they are not pathognomonic: they also occur, for example, in urinary tract obstructions without reflux mechanism.

[Lymphatic metastases of verrucous carcinoma (Ackerman tumor)]. / Lymphknotenmetastasen beim verrukösen Karzinom (Ackerman-Tumor).

Verrucous carcinomas (Ackerman tumors) are rare. The tumor is slow growing, locally invasive and is not supposed to metastasize. It is therefore thought to be unnecessary to perform a neck dissection. Two patients with local metastazing verrucous carcinomas (oral cavity and larynx) are presented. The possibilities of therapy are discussed with reference to the two cases presented and according to the literature.

[Fibromatoses in orthopedics--what is certain?]. / Fibromatosen in der Orthopädie--was ist gesichert?

Based on a cauistic observation, a survey of the rare fibromatoses and desmoid fibromas, respectively, is given from the orthopaedic aspect. Considerable risk factors may be present by incorrect interpretation of these tumors, concerning the differential diagnosis which can be problematic as opposed to harmless fibrosis and highly malignant fibrosarcoma. Thus, a detailed knowledge of these semi-malignant neoplasms is imperative for orthopaedic surgeons, although they will opposite to the more frequent abdominal localizations found in surgical medicine, expect rarely find affected the extremities and the area of the dorsal scapular arch, respectively by fibromatoses.

[Normal proximal ureter of the human. Methodology of histomorphometry and results]. / Der normale proximale Ureter des Menschen. Methodik der Histomorphometrie und Ergebnisse.

A reliable method of histomorphometric evaluation was developed for comparative investigations on cross sections of normal and pathologically altered human ureters. The reproducibility of the measurements with our rating method was good. In addition to the total area of proximal ureteral cross sections, the proportion of lumen, epithelium, submucosa, and muscularis was determined. Connective tissue, musculature, and edema in the ureteral wall were differentiated by staining. This differentiation, like the counting of inflammatory infiltrates, was done in predefined sectors. Measuring results were summarized in one table. The procedure was illustrated in two diagrams.

[Proximal ureter of the human in reflux nephropathy and in chronic, nonreflux-induced pyelonephritis. Histomorphometric study]. / Der proximale Ureter des Menschen bei Refluxnephropathie und bei chronischer, nicht refluxbedingter Pyelonephritis. Histomorphometrische Untersuchung.

The total area and the proportion of lumen, epithelium, submucosa and muscularis as well as connective tissue, musculature, and edema were determined by histologic and morphometric evaluation in cross sections of 30 segments of undilatated proximal ureter. The conditions in 8 reflux ureters from children were almost identical to those in 12 reflux ureters from adults. No statistically significant increase in proliferation of connective tissue within the submucosa and muscularis could be established. The primary difference between the reflux ureters and the 10 proximal ureters in reflux-unrelated chronic pyelonephritis was extensive inflammatory edema in the submucosa and muscularis in the latter. Pathophysiologic and pathogenetic aspects are discussed.

[Bacterial urinary tract infections in nephropathies caused by analgesics. Clinico-pathologic correlations]. / Bakterielle Harnwegsinfektionen bei Analgetika-Nephropathie. Klinisch-pathologische Korrelation.

The clinical findings and past history with regard to bacterial urinary infection were correlated with the morbid-anatomical findings in 51 cases of analgesic nephropathy, confirmed clinically and histologically. Light-microscopy and immunohistology indicated that clinical and morphological findings agreed in 64.7%. In 23.5% of cases there was evidence of destruction without any history of urinary tract infection, while in 11.8% there was no destruction even after urinary tract infections. Clinical findings and morphological results were thus complementary in that the incidence of bacterial urinary tract infection with renal involvement was definitely higher in analgesic nephropathy than on isolated assessment by clinical means or histology alone.