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C Bosman

Publications and source records attributed to C Bosman.

At least 91 records · Page 5Linked to original sources
PubMed1991

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

The clinical, morphological and biochemical findings of a sporadic case, showing accumulation of desmin-type intermediate filaments in skeletal muscle and myocardium are described. Desmin storage was demonstrated by immunofluorescence, sodium dodecyl sulfate gel electrophoresis and two-dimensional gel electrophoresis. These findings are in agreement with those of Rappaport et al. (FEBS lett. 231:421-425, 1989). A sensory-motor polyneuropathy was established by electrophysiological studies and, ultrastructurally, intramuscular nerves showed accumulation of neurofilaments and neurotubules with formation of axonal spheroids. These findings are discussed considering all previous reports with related conditions.

Cardiomyopathy, Dilated↗
PubMed1991

Role of necropsy at neonatal and infantile ages.

One of the aims of necropsy at neonatal and infantile ages is to identify the causes of death in this population, which is decreasing continuously because of the decay in natality seen in Italy as well as in other western countries over the last few decades. Analysis of 2410 autopsies performed on 92% of deaths in infants under one year of age occurring at the Bambino Gesù Hospital in Rome in 1974-89 shows a striking change in the principal causes of death in recent decades: Malformations, neonatal anoxia and immaturity have now become the main causes of death in the first year of life, while there is a very low rate of nutritional and infectious diseases, which predominated in the past. The autopsy results obtained indicate, however, that the policy of paediatric care in public health systems must be changed.

Autopsy↗
PubMed1990

Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments.

A girl affected by a restrictive cardiomyopathy with neuromuscular involvement is described. Morphological examination showed a pattern of multicore myopathy and with electron microscopy a sarcoplasmic accumulation of electron dense granular and filamentous material was demonstrated both in skeletal muscle and heart. This peculiar electron dense material corresponded to increased desmin in muscle and cardiac fibres and was demonstrated immunohistochemically.

Adolescent↗
PubMed1990

Involvement of respiratory muscles in cytoplasmic body myopathy--a pathology study.

A muscle biopsy and autopsy study of a child who died at 14 months of respiratory failure is described. A diagnosis of infantile cytoplasmic body myopathy was made due to the high percentage of cytoplasmic bodies (CBs), particularly in respiratory muscles. No pathological abnormalities were found in the central nervous system, peripheral nerves or visceral organs. Immunohistochemical studies suggested that the central core of CBs was stained for fibrillary actin, being surrounded by a positive signal for desmin. A differential diagnosis as to other conditions involving proliferation of CBs is discussed.

Autopsy↗
PubMed1990

[Endodermal sinus tumor. Histological changes induced by chemotherapy].

The case of a child affected at birth sacrococcygeal teratoma is reported. Twenty-eight months following surgical resection, the tumor relapsed locally and liver metastases occurred. A biopsy of the sacrococcygeal mass was performed and histologic examination proved it to be an endodermal sinus (yolk sac) tumor. Chemotherapy consisting of etoposide and high-dose carboplatin was started. When a second operation was performed the mass had disappeared and the macroscopically involved areas of liver were removed. Histologic examination demonstrated that the complete necrosis of the tumor was partially replaced by a fibrous scar tissue. The child underwent adjuvant chemotherapy and now is in complete remission fourteen months after the last operation.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1989

Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem.

A prenatal diagnosis of adult polycystic kidney disease by DNA testing is reported. Evidence showing a linkage between the disease and the 3'HVR and 24.1 restriction fragment length polymorphisms (RFLPs) on chromosome 16 was obtained in the proband's family by linkage analysis of data and homogeneity testing with Italian families of the linked type. Fetal genotype prediction based on both flanking markers was confirmed by histological and ultrastructural findings in fetal kidneys.

Adult↗
PubMed1989

Dilated cardiomyopathy in infancy. Ultrastructural image analysis for diagnostic purpose.

30 patients in paediatric age have been submitted to endocardial biopsy of the right ventricle, most of them affected by a dilated cardiomyopathy. Our aim was to improve knowledge on this disease using ultrastructural morphometric analysis. An enlargement of myocardial cells with granular aspects of the cytoplasm, known as cloudy swelling, was observed at histological level. Electronmicroscopy showed two main abnormalities: 1) a constant increase of the chondroma resulting in nuclear deformation and myofibrillary dislocation towards the sarcolemma. 2) disarrangement of thin (actin) and thick (myosin) myofilaments. Such myofibrillary dislocation, designated as fibrillar segregation, suggests how myocardial fibres may loose their ability to contract. The stereological study of these two ultrastructural abnormalities showed that mitochondria are increased in number and size and that the loss of contractile properties of myocardial cells can be related to myofibrillar segregation.

Biopsy↗
PubMed1989

Congenital mitral valve anomalies in transposition of the great arteries.

Seventy-nine specimens with transposition of the great arteries were reviewed. Among them were 45 with ventricular septal defect, including 6 with so-called "posterior aorta transposition". The morphology of the mitral valve was carefully studied. Mitral valve anomalies were found in 24 cases (30%). The anomalies involving the mitral valve were classified into 4 groups according to the different components of the valve: A) specimens with anomalies of the leaflets--2 cases with mitral cleft; B) those with anomalies of the commissures--1 case with a mitral gap; C) those with abnormalities of the chordae tendinae--2 cases of malattachment of the chordae tendinae to the ventricular septum and 2 with bridging chordae between the papillary muscles; and D) those with abnormalities of the papillary muscles--5 cases with a parachute valve, 10 with a "form fruste" of the parachute mitral valve (hypoplasia of one papillary muscle and short chordae tendinae) and 2 with abnormally placed papillary muscles, which reached the pulmonary annulus. In 14 cases, abnormalities of the tricuspid valve were also encountered, including 8 cases with a tricuspid gap and 6 with a malattachment of tricuspid chordae on the border of a ventricular septal defect. It can be concluded that mitral valve anomalies are not uncommon in transposition of the great arteries. This pathology must be carefully evaluated at the time of surgery, particularly in those patients for whom an anatomic correction is considered, for in those cases the left ventricle will be supplying the systemic circulation and therefore, a completely normal mitral valve will be required.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗
PubMed1989

Renal oncocytoma: a clinicopathologic study of a case with review of the literature.

A peculiar case of renal oncocytoma was studied by clinical, light- and electron-microscopic examinations. The neoplasm, which was first discovered 21 years ago, at operation turned out to be very large, well-circumscribed and lacking any feature of aggressiveness. Histologically, it was composed totally of oncocytes without relevant atypia or necrosis. Ultrastructurally, a cytoplasmic filling by mitochondria with paucity of other organelles and filaments also supported the diagnosis. The authors also reviewed the literature and emphasized the diagnostic criteria of this type of tumor.

Adenoma↗
PubMed1988

Primary Kaposi's sarcoma of the lymph node in children.

A case of primary Kaposi's sarcoma of the lymph node (single node involvement) is reported on here. It occurred in a white, Italian boy 10 years of age. An extensive review of the literature showed that this was only the second childhood case of the disease among non-acquired immune deficiency syndrome (AIDS)-related people of the Western world.

Child↗
PubMed1988

Late onset scleroatonic familial myopathy (Ullrich disease): a study of two sibs.

We report on sibs with scleroatonic familial myopathy (Ullrich disease). Muscular weakness was of relatively late onset in relation to other cases reported in the literature. Short stature and moderate growth hormone deficiency were noted during follow-up. Differential diagnosis with other neuromuscular disorders, particularly rigid spine syndrome, is discussed.

Abnormalities, Multiple↗
PubMed1988

Estrogen receptor status and estradiol sensitivity of MCF-7 cells in exponential growth phase.

Proliferative patterns of MCF-7 human breast cancer cells have been reported to influence their estrogen receptor (ER) contents. However, the experimental conditions under which these variations in ER contents were described differed from those commonly used for maintaining exponential growth. We, therefore, investigated whether or not MCF-7 receptor status also fluctuated under normal growth conditions. MCF-7 cells were cultured up to 4 days in 96-multiwell dishes. On each day, cell number was spectrophotometrically assessed after fixation and coloration of the cells with hematoxylin; corresponding ER content was measured by the Abbott enzyme immunoassay in KCl extracts. At the three plating densities tested (5, 10 and 20 x 10(3) cells/ml), an obvious parallel was found between the cell number and the ER content suggesting an unchanged receptor status throughout the culture period. Regression analysis confirmed this impression. Additional fractionation by SDS-PAGE of total MCF-7 proteins extracted at various times of the culture (up to 7 days in 35 mm Petri dishes) gave identical patterns suggesting that ER synthesis is regulated as the majority of proteins. Growth experiments indicated that this situation conferred a constant estrogenic sensitivity to the cells: 24 h exposure to 10(-8) M estradiol on either the 1st, 2nd, 3rd or 4th day after plating resulted in the same increase in cell number. All these data indicated that ER contents of MCF-7 cells were maintained at a constant level under exponential growth which resulted in a constant estrogenic sensitivity.

Breast Neoplasms↗
PubMed1988

Metaplastic breast carcinoma with epithelial phenotype of pseudosarcomatous components.

A case of metaplastic breast carcinoma was subjected to an immunohistochemical study to characterize its apparent fibrosarcomatous and chondrosarcomatous elements. Polyclonal and monoclonal antibodies against epithelial cell components such as keratin proteins, epithelial membrane antigen, membrane and cytoplasmic antigens of human mammary carcinoma cells, and carcinoembryonic antigen were used, as well as antibodies against the mesenchymal antigens, desmin, and vimentin. The cells with a mesenchymal appearance had an epithelial derivation, as shown by the presence of epithelial cell markers and absence of mesenchymal cell markers.

Breast Neoplasms↗
PubMed1988

Aplastic anemia and neonatal giant-cell hepatitis.

The authors report the case of a female infant with bone marrow aplasia associated with neonatal giant-cell hepatitis. In addition to noting the exceptionality of this case, the possible interdependence of the two processes is discussed, and it is proposed that bone marrow aplasia, as in the adult, may represent a complication of viral disease (hepatitis).

Anemia, Aplastic↗
PubMed1987

Pathologic features in two siblings with the Pena-Shokeir I syndrome.

Two siblings whose clinical and pathologic features were consistent with the "Syndrome of camptodactyly, multiple ankyloses and pulmonary hypoplasia" originally described by Pena and Shokeir were examined at autopsy. Additional features were intrauterine growth retardation, immaturity of the central nervous system (CNS) and atrophy of skeletal muscles. Our data suggest that CNS damage may cause the complicated phenotypic abnormalities of the syndrome.

Abnormalities, Multiple↗