[Xanthogranulomatous pyelonephritis: the possibilities of imaging diagnosis. A review of 4 pediatric cases and of the literature].
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Child↗
Biomedical subjects
R Boldrini
Publications and source records attributed to R Boldrini.
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↗
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↗
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↗
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↗
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↗
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↗
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↗
[Aggressive fibromatosis in childhood].
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Child↗
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↗
Congenital-infantile fibrosarcoma: study of two cases and review of the literature.
BACKGROUND: Congenital-infantile fibrosarcoma is a rare tumor of the pediatric age. It involves subjects under 5 years of age, and more than 200 cases have been reported in the literature. METHODS: The authors present the clinicopathologic findings of 2 cases and review the literature. RESULTS: Of our 2 patients, the first was a 2-years and 6-months-old female and the second a newborn male. The female presented a tumor in the retroperitoneum without recurrences or metastasis after 17 months, and the male on left foor with a recurrence after 3 months. Histologically, the tumors were mainly composed of spindle-shaped cells. Immunohistochemically, in both cases, neoplastic cells were positive for vimentin; focal positivity for muscular specific actin was present in the tumor of the female. Ultrastructurally, tumors were composed of mesenchymal cells with fibroblastic and myofibroblastic features. Flow cytometric analysis of the retroperitoneal tumor showed an aneuploid population of neoplastic cells. CONCLUSIONS: Congenital-infantile fibrosarcoma should be considered a borderline tumor; its biologic behavior is better than that of adult fibrosarcoma. Histologic diagnosis is not easy; the microscopic picture may be confused with fibromatosis or with malignant mesenchymal neoplasms. Only a follow-up of many years can confirm the benignancy or malignancy of any individual tumor, even though clinico-pathologic features may be distinctive enough to permit its recognition.
Child, Preschool↗
Paranasal giant cell fibroblastoma: case report and immunohistochemical findings.
Few published reports describe patients with giant cell fibroblastoma, a rare, benign soft-tissue tumor that recurs locally and predominantly arises in children. A 4-year-old boy underwent surgery for removal of a giant cell fibroblastoma in the paranasal region, an unusual site. Six months after excision the tumor recurred locally. Immunohistochemical examination of the primary tumor and recurrence revealed vimentin positive staining in the cytoplasm of all the cells. The multinucleated giant cells and the flat cells bordering the vessel-like spaces were negative for Factor VIII-related antigen, S-100 protein, actin and desmin. Some histiocytes stained positively for alpha-1-antitrypsin, alpha-1-antichymotrypsin, antimacrophage and lysozyme antibodies. These immunoreactions indicate that giant cell fibroblastomas have a fibrohistiocytic origin.
Child, Preschool↗
[Intravaginal foreign body in a 2-year-old girl].
A very unusual case of intravaginal soft foreign body occurred in a 2 years girls has been reported. Such soft body easily removed in the course of a clinical examination was sent to the Department of pathology as botrioid sarcoma. The histologic examination revealed such material removed from vagina consisting of avian pulmonary tissue which was artfully introduced in the vagina of the girl by her schizophrenic mother.
Child, Preschool↗
[Echinococcosis/hydatidosis in children: combined medical and surgical treatment].
The outcome of 5 children with visceral hydatid cysts treated with Albendazole and surgical therapy is reviewed. The diagnoses were confirmed by immunological tests, X-ray, ultrasound scanner (US) and computer tomography. The therapeutic approach was correlated to the type of infection pictures. Immunological tests, X-ray and US were performed with the aim to evaluate the response to the therapeutic protocol. Combination of pharmacological and surgical treatment resulted in a complete resolution for all patients without any recurrence and further dissemination of infection.
Albendazole↗
[Surgery of thyroglossal duct in childhood].
A retrospective review of 177 neck masses in childhood treated between January 1975 and December 1990 at the "Bambino Gesù" Pediatric Hospital of Rome is presented, with particular emphasis on recurrences and their causes. 105, object of our study, were thyroglossal duct cysts (TDC) (58.7%); in the remaining 72 cases there were dermoid cysts (23.1%), granulomas (7.9%), lateral neck masses (1.69%) and other histological patterns. The aim was to identify the variables that could change postoperative hospitalization or cause the recurrence. The TDC's group was separated in two: 92 primary patients, while 13 received a preliminary operation in other institutions. In the first group we applied 41 Sistrunk, 43 Schlange, 8 cystectomies; 5 recurrences occurred (5.43%), 3 of which in patients operated on with modified Sistrunk's technique (Schlange) (60%). In the second group (13 patients) a standard Sistrunk procedure was always performed. We had only one recurrence (7.69%) due to a remnant of multiple proximal thyroglossal duct. In 11 cases (10.47%) there were postoperative complications due to an existing inflammatory condition of the TDC (8 patients -72.72%). In only one case there was a recurrence after 27 months. Histological study of the specimens showed that thyroglossal ducts were frequently multiple and widely spaced and may also be present in the distal portion of the duct; in our series in 16.19% we found the distal portion of the duct during the operation. Our overall recurrence frequency is 5.7%. Every lesion referred to a TDC must be treated with a Sistrunk procedure for the better results achieved with this surgical approach but, in our experience, we prefer to complete the Sistrunk's technique with the research and exeresis of the distal portion of the duct by a "muscular sparing procedure" that preserves little patients from pharyngodynia. At the follow-up, we have not recurrence in the 17 cases operated on by this procedure.
Adolescent↗
Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments.
We present a undescribed condition in a girl who died at 8 years of hypertrophic cardiomyopathy. Muscle and endomyocardial biopsies disclosed a selective loss of thick filaments ultrastructurally. In muscle biopsy histochemical abnormalities of myofibrillar AT-Pase were confined to type 1 fibres. Gel electrophoresis of muscle homogenate showed no qualitative abnormalities of slow and fast myosin heavy chains (MHC) and light chains, and the amount of the different myosin isozymes was in agreement with histochemical myofibrillar ATPase findings. The pathogenetic mechanisms have not been elucidated in this case but we suspect an abnormality of the beta-cardiac MHC gene, the only gene expressed in the heart and in type 1 skeletal muscle fibres.
Calmodulin-Binding Proteins↗
A case of squamous papilloma of the esophagus: spontaneous disappearance?
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Esophageal Neoplasms↗
Familial aggregation of idiopathic dilated cardiomyopathy: clinical features and pedigree analysis in 14 families.
OBJECTIVE: A recent prospective study in patients with dilated cardiomyopathy has reported that the disease is familial in at least 20% of cases, but the pattern of inheritance could not be ascertained. The presence of an autosomal dominant pattern, such as seen in hypertrophic cardiomyopathy, could make it possible to search for single gene defects with linkage analysis, whereas polygenic inheritance would be consistent with the autoimmune hypothesis. To assess the pattern of inheritance, we retrospectively identified patients with familial disease and assessed their first degree relatives (parents, siblings and children) for dilated cardiomyopathy. DESIGN AND PATIENTS: The family history of 105 consecutive patients with dilated cardiomyopathy was reviewed and 14 who had at least one first degree relative with documented disease were identified as probands. Their healthy relatives (109) were studied by physical examination, electrocardiography, M mode and cross sectional echocardiography, and were classified as unequivocally normal or as potential carriers. The potential carriers had abnormal electrocardiography with either at least one echocardiographic measurement of left ventricular cavity dimension or percentage fractional shortening outside 2 SDs of normal values (based on age and body surface area). The potential carriers underwent 24 hour Holter monitoring and maximal treadmill exercise. RESULTS AND CONCLUSION: Twenty three relatives (21%) were classified as potential carriers: 12 had an increased left ventricular end diastolic dimension, with reduced percentage fractional shortening in three; 11 had an abnormal electrocardiogram and increased end diastolic dimension, with reduced percentage fractional shortening in five. Such abnormalities were very mild and follow up is necessary to find whether such changes represent early disease. Pedigree analysis was most consistent with polygenic inheritance.
Adolescent↗