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Biomedical subjects

C Bosman

Publications and source records attributed to C Bosman.

At least 55 records · Page 3Linked to original sources
PubMed1997

Restrictive cardiomyopathy due to desmin accumulation in a family with evidence of autosomal dominant inheritance.

OBJECTIVE: A familial case of restrictive cardiomyopathy due to desmin accumulation characterized by severe disturbances of cardiac conduction is described. BACKGROUND: Desmin is an intermediate filament normally present in the myocardium, particularly in the Purkinje fibres, in the skeletal and in the smooth muscle. METHODS: Resting electrocardiogram, 2-dimensional and Doppler echocardiogram, cardiac catheterization, electrophysiological study have been performed in all siblings. Informed consent for endomyocardial biopsy was obtained only in one patient. RESULTS: The mother showed bilateral pes cavus and complained of episodes of vertigo at the age of 36 years. At that time she was submitted to electrophysiological study and to permanent pacing. After 15 years of good health conditions, she developed heart failure and underwent cardiac transplantation. A 21 year old son had a syncope; his ECG was similar to that of his mother; a permanent pacemaker was implanted and a diagnosis of restrictive cardiomyopathy with desmin accumulation was confirmed at histopathology study. Afterwards, another 24 year old sib had a syncope with head trauma: ECG showed right atrial enlargement, left bundle branch block. After electrophysiological study, he started antiarrhythmic therapy. This patient showed bilateral pes cavus. CONCLUSIONS: The early manifestation of desmin accumulation may be intraventricular conduction disorders that can be often controlled by pacemaker implantation. Clinical symptoms of heart failure may be absent for a long period of time. Pedigree analysis is most consistent of autosomal dominant inheritance.

Adult↗
PubMed1997

Ossifying fasciitis of the nose.

A case of ossifying fasciitis in a 22-year-old woman is described. The lesion, which appeared suddenly, was located on the tip of the nose. Histologically the lesion contained spindle-shaped myofibroblastic cells, trabeculae of woven bone rimmed by plump osteoblasts within a myxoid stroma.

Adult↗
PubMed1997

Causes of late failure after heart transplantation: a ten-year survey.

BACKGROUND: Little is known about the causes of death of heart transplant recipients who survive long-term. METHODS: The pathologic and clinical records of 97 patients who underwent heart transplantation in Italy from 1985 to 1995 and died (85 of 97) or underwent retransplantation (12 of 97) at least 2 years after transplantation were surveyed. Graft failures were classified as late (occurring between 2 and 5 years after transplantation) and belated (more than 5 years). RESULTS: Graft vasculopathy was the single most common cause of death (40.0%) and the only cause of late retransplantation. Tumors ranked second (23.5% of deaths), but the expected non-Hodgkin's lymphomas and Kaposi's sarcoma were accompanied by a high number of lung cancers (especially metastasizing adenocarcinomas). They were followed by the emergence or recurrence of pretransplantation diseases (9.4%), fatal infections (exclusively bacterial) (4.7%), the development of transmissible diseases (viral hepatitis and acquired immunodeficiency syndrome, 4.7%), and late acute rejection (2.3%). The distribution of failures differed in the late and belated periods: death and organ loss proportions for graft vasculopathy, respectively, fell and rose from the late to the belated period; some types of malignancy and fatal acute rejection were never observed in the belated period, whereas the emergence of pretransplantation diseases prevailed in the belated period. Graft vasculopathy was more frequent and tumors were less frequent among patients undergoing transplantation for ischemic heart disease. CONCLUSIONS: The reasons why heart transplant recipients die or undergo retransplantation, respectively, in the late and belated periods slightly differ from one another and are widely different than in short-term survivors.

Bacterial Infections↗
PubMed1997

[Non-metastatic calcinosis localized in the prepuce. Clinicopathological study of a case and review of the literature].

Penis calcinosis is a rare pathology and only two previous cases have been reported in literature. We describe the clinicopathologic features of a case of nodular foreskin calcinosis in a 25-year-old man. The patient's history resulted negative for local trauma, inflammatory disorders or metabolic diseases. The mass measured up to 2 cm and was histologically constituted by multiple intradermic calcium deposits, whose deepest ones were surrounded by epithelioid histiocytes and multinucleated giant cells, with no evidence of any epithelial structures around none of them. These features were consistent with a non-metastatic calcinosis, likely idiopathic, even though also dystrophic calcinosis, observed at its end-stage, may show the same microscopic aspect. The exact idiopathic/dystrophic nosology is briefly discussed.

Adult↗
PubMed1996

Inflammatory myofibroblastic tumor (inflammatory pseudotumor): DNA flow cytometric analysis of nine pediatric cases.

BACKGROUND: Inflammatory myofibroblastic tumor or inflammatory pseudotumor is an uncommon lesion reported in various organs and believed to be a non-neoplastic reactive inflammatory condition. The concept of benign lesion has been recently challenged from both clinical demonstration of recurrence and cytogenetic evidence of acquired clonal chromosomal abnormality. Because DNA aneuploidy can be a useful marker for neoplasia, we analyzed nuclear DNA content of these lesions using flow cytometry. METHODS: In this study, inflammatory myofibroblastic tumors from nine children were examined retrospectively by evaluating clinicopathologic features and ploidy. DNA ploidy status was analyzed by flow cytometry in nuclei isolated from paraffin-embedded tumor tissues. RESULTS: Three of the nine patients had local recurrence or distant metastases. Flow cytometric DNA analysis revealed five of the nine cases were diploid and four hyperdiploid (DNA indices 1.14, 1.16, 1.19, and 1.33). All lesions had a low S-phase fraction. Samples from the three subjects with clinical recurrence were all hyperdiploid. CONCLUSIONS: The present data indicate that flow cytometry identifies aneuploidy (hyperdiploidy) in approximately half of the cases of inflammatory myofibroblastic tumors. This feature appears to reflect a more aggressive biologic behavior. In addition to the reported cytogenetic abnormalities, our data suggest that inflammatory myofibroblastic tumor, generally considered a benign reactive inflammatory process, may evolve as a distinct, potentially malignant, lesion. Therefore, flow cytometric DNA analysis is a suitable tool to provide the clinician with both diagnostic and prognostic information and to individuate the most feasible therapeutic approach.

Child↗
PubMed1996

Hemimegalencephaly. Histological, immunohistochemical, ultrastructural and cytofluorimetric study of six patients.

Hemimegalencephaly (HME) is an uncommon sporadic nonfamilial congenital dysplastic abnormality of the central nervous system, characterized by enlargement of one cerebral hemisphere, with cranial asymmetry, hemiparesis, epilepsy, and mental retardation. It can occur in isolation or associated with various anomalies, namely skin disorders. The main neuropathologic findings are hemispheric gigantism, macro- and/or micropolygyria, cortical thickening with lack of lamination, blurred boundaries of the gray and white matter, and large ortho- and heterotopic neural cells. The results obtained by morphological investigations carried out on six patients with HME, compared with the findings recorded in similar studies performed on one patient with tuberous sclerosis (TS) and another with pachygyria, allow the authors to (a) confirm the dysplastic nature of HME and its autonomy from TS; (b) demonstrate that ortho- and heterotopic neuronal cells do not differentiate completely during proliferation and migration from the germinal matrix; (c) document, by means of flow cytometric study, a normal euploid DNA content in the enlarged hemisphere, consequently ruling out heteroploidy as a cause of both cell "hypertrophy" and enlargement of the malformed cerebral hemisphere.

Brain↗
PubMed1996

Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization.

Seven formalin-fixed, paraffin-embedded heart specimens set up at autopsy performed from 3 to 18 years before analysis of newborns in which DiGeorge syndrome (DGS) was suspected were evaluated by fluorescence in situ hybridization (FISH) using a DGS region-specific probe and a control probe on nuclei released from thick sections. The diagnosis was confirmed in four of the six specimens, which provided valuable results, and in none of the controls. This study supports the feasibility and usefulness of FISH genotyping of archival autoptic material, which improves and assists the counselling procedures.

Autopsy↗
PubMed1996

Hepatogonadal fusion.

Fusion of the testis with adrenal remnants is a relatively common incidental finding during orchidopexy. Splenogonadal fusion has been described in several cases. Herein the authors report a case of hepatogonadal fusion. To their knowledge, this is the first such case in the literature. Ectopic liver tissue has been encountered in a variety of locations, but had not been found in a testicle. The trapping of hepatocyte-destined mesenchyma in different areas may explain the presence of heterotopic liver tissue in different organs. If these cell aggregates are trapped in the area of peritoneum where the testis is forming, heterotopic liver tissue can end up in the testis.

Choristoma↗
PubMed1996

Morphometric analysis of smooth muscle in the exstrophy-epispadias complex.

PURPOSE: In bladder exstrophy and to a lesser extent in epispadias the muscular tissue in the bladder wall may often be replaced by collagen. The aim of our study was to assess the relative changes of smooth muscle versus connective tissue in patients with the exstrophy-epispadias complex. MATERIALS AND METHODS: Nine full thickness detrusor biopsies from children with the exstrophy-epispadias complex were analyzed. Biopsies were stained with the Masson trichrome method to differentiate muscular tissue from collagen. At x50 magnification using image software for computerized morphometry the areas of smooth muscle and collagen were measured and expressed as a percent. As controls, detrusor biopsies from 8 children with unilateral obstructive megaureter or ectopic ureter were analyzed using the same method. RESULTS: The average rates of smooth muscle in children with the exstrophy-epispadias complex were 7, 19.3 and 31.5%, respectively, in newborns, and before and after bladder neck reconstruction. In controls the rate averaged 56.5%. CONCLUSIONS: The ratio of smooth muscle-to-connective tissue increases from the newborn period to puberty in the exstrophy-epispadias complex. After staged reconstruction is completed this ratio remains below normal, although it is increased. Such a change may represent a histological marker of the inadequate volume increase of some of these bladders.

Abnormalities, Multiple↗
PubMed1996

Oncocytic nonsecretory multiple myeloma. A clinicopathologic study of a case and review of the literature.

We report on a morphologic variant of multiple myeloma, identified in a 39-year-old man, with osteolytic lesions in two ribs and three lumbar vertebrae. Serum electrophoresis was normal and immunofixation of serum and urine was negative. Histologic examination of a resected rib revealed a homogeneous population of neoplastic plasma cells with granular and eosinophilic cytoplasm. Immunohistochemical stains showed monoclonality for lambda light chain and negativity for all heavy chains. At the ultrastructural level, the cytoplasm of the neoplastic plasma cells was almost totally occupied by round and elongated mitochondria, pushing the rough endoplasmic reticulum to the periphery. To the best of our knowledge, only two similar cases have been reported in the literature so far. The usefulness of obtaining a clinicopathologic correlation for the behaviour of this extremely rare variant of multiple myeloma is discussed.

Adult↗
PubMed1996

Ultrastructural study of Kaposi's sarcoma.

An electron microscopic (EM) study of 25 Kaposi's sarcomas (KS) (24 cutaneous lesions, 1 lymphnodal) from 23 patients, mainly sporadic in type, has enabled us to study both the spindle and endothelial cells seen by light microscopy (LM) with the conclusion that they have both a fibroblastic-like EM aspect. Both cell types manifested a spindle shape with oval and occasionally notched nuclei and a reticular pattern of nucleoli. The cytoplasm was characterized by numerous rough endoplasmic reticulum cisternae with few other organelles. The plasma membranes consistently lacked an external or basal membrane and failed to show true cell junctions. In cells delimiting erythrocytes containing spaces it was never possible to document Weibel-Palade (W.-P.) bodies or plasmalemmal vesicles. Unusual findings such as ferritin loaded phagosomes, microtubular reticular structures (MTRS), intracisternal crystalline inclusions (ICCI), multivesicular bodies (MVB), acanthosomic vesicles (AV) and test-tube inclusions or ring-shaped forms (TTI/RSF) were occasionally seen in both sporadic and epidemic KS. The authors discuss the non specific nature of these latter findings.

Adult↗
PubMed1996

Myocardial rhabdomyoma with rhabdomyoblastic moiety.

The clinical, histologic, histochemical, immunohistochemical, and ultrastructure studies of a primary neoplasia of the myocardium with onset in a 14-year-old boy led to the conclusion that this was a benign neoplasia of myocardial origin, apparently not previously described. The authors propose to call this entity "myocardial rhabdomyoma with rhabdomyoblastic moiety".

Adolescent↗
PubMed1995

Intramural mesenteric venulitis. A new cause of intestinal ischaemia.

Venous damage is an uncommon cause of intestinal ischaemia. We report on a 44-year-old woman who presented signs and symptoms of acute intestinal ischaemia requiring surgical treatment. Histological examination of the resected right colon showed features of an intramural lymphocytic venulitis with no other demonstrable causes of ischaemic injury of the bowel. Extramural mesenteric veins appeared dilated and congested, without evidence of thrombotic occlusion or of inflammatory involvement. The patient, who was not taking any long-term medication and had no clinical evidence of collagen-vascular disease, promptly recovered after surgery. Follow-up for 7 months with no recurrences suggested a self-limited or indolent process. We propose the name 'intramural mesenteric venulitis' for this condition and believe that it could represent one extreme (the microscopic variant or intramural phase) of the spectrum comprising entero-colic phlebitis and mesenteric inflammatory veno-occlusive disease. The immunohistochemical evidence of a marked preponderance of T phenotype in the perivenular lymphocytes suggests lymphocyte-mediated vascular damage as the pathogenesis of the lesion.

Adult↗
PubMed1995

Origin of both coronary arteries from the pulmonary artery and aortic coarctation.

Single trunk anomalous origin of both coronary arteries from the pulmonary artery is a rare congenital cardiac anomaly. We report on 2 cases of its association with aortic coarctation, the diagnosis of which in living patients is very difficult. We think that the possibility of this anatomic arrangement should always be considered in patients with isolated aortic coarctation whose clinical condition seems impaired rather than improved after an apparently successful coarctectomy.

Aortic Coarctation↗
PubMed1995

[Primary microcytoma of the larynx. Case report, ultrastructural study and review of the literature].

Oat cell carcinoma of the larynx is a rare tumor. A throughout search of the literature revealed only 80 cases; the first case in literature was reported by Olofsson in 1972. The tumor often presents in the sixth and seventh decades of life and appears to be highly aggressive and metastases develop early. We have had the opportunity to study ultrastructurally a small cell carcinoma of oat cell type arising in the larynx.

Aged↗
PubMed1995

Nodular renal blastoma in kidney with multicystic dysplasia. Report of a case.

The clinico-pathologic association of nodular renal blastema, multicystic kidney and obstructive uropathy has been recently identified. We report on a female patient diagnosed as having unilater multicystic dysplasia by prenatal ultrasonography. The patient was nephrectomized at the age of 6 1/2 months. Examination of the resected kidney revealed multiple unilocular cysts in the cortex and hypoplasia of the homolateral ureter; histological study confirmed the presence of multiple cysts limited to the renal cortex, and revealed, among them, multiple cortical metanephric blastema cells islands. Our case supports a relationship between nodular renal blastema, cortical cysts and obstructive uropathy; ureter hypoplasia could cause intraluminal back pressure, with consequent abnormal development of the ampullae, normally endowed in nephronic anlagens induction, cystic tubular ectasia and persistence of nodular renal blastema. The peripheral location of renal nodular blastema and cysts supports a late error in nephrogenesis, at the time of formation of the last generation of nephrons.

Female↗
PubMed1995

Chronic cholecystitis with features of diffuse inflammatory pseudotumour: a clinico-pathological case study and review of the literature.

A case of chronic cholecystitis with features of inflammatory pseudotumour is presented. The patient, a 69-year-old man, was admitted for epigastric pain, nausea, vomiting, and fever. Ultrasound examination of the abdomen revealed diffuse thickening of the gallbladder wall, and numerous calculi inside, without dilatation of the intra and extrahepatic biliary ducts. Cholecystectomy was performed. Histological examination confirmed the diffuse thickening of gallbladder wall, revealing a diffuse chronic inflammatory process with a huge fibroblastic and myofibroblastic proliferation associated with plasma cells, lymphocytes, macrophages, granulocytes, and rare giant multinucleated cells. Only one similar case has been quoted in the literature so far.

Aged↗