Biomedical subjects
Publications and source records attributed to R Boldrini.
A case of brown tumor of hyperparathyroidism in a young girl with a long history of chronic renal failure and hemodialysis therapy is reported. The diagnosis can be reached with the aid of the classic skeletal radiological sign which address the evaluation of both CT and MR imaging.
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.
Testicular dermoid cysts are rare in the pediatric age group: their discovery in an undescended testis is exceptional. The origin of this lesion is still unclear, but it should be considered as a monolayer expression of a mature teratoma. Though surgeons when confronted with these intratesticular cysts have traditionally opted for castration, in presence of small, compact masses, simple enucleation may be recommended, provided that the integrity of the neighboring parenchyma is not affected.
Pulmonary interstitial emphysema (PIE) may occur spontaneously, as a complication of endotracheal tube displacement, intrauterine viral pneumonia or massive aspiration of formula. Nevertheless PIE occurs more frequently in neonates requiring mechanical ventilation for RDS. Untoward effects of large air collections in the extra-alveolar spaces are based on decreased perfusion and ventilation of the affected lung tissues, compression of adjacent pulmonary parenchyma and mediastinum, possible air embolism. Sometimes PIE spontaneously regress, but in some instances the process is self perpetuating, leading to an "air block syndrome". Fourteen (19.4%) of 72 infants ventilated for RDS in a three-year period had radiological evidence of PIE during the first few days of life. All 5 bilateral, 7 diffuse and 2 localized cases were treated with "vigorous pulmonary therapy". In addition to these procedures, 4 neonates were submitted to a selective bronchial intubation (SBI) and 5 different infants improved after HFV. No one of our patients underwent a surgical procedure. Infants with fine linear hyperlucencies improved sooner. All pneumothoraces (7 of 14) were preceded by X-ray appearances of PIE. Three neonates died. Mortality was observed in newborns with bilateral PIE, because of an intraventricular hemorrhage in two and an intractable under tension pneumothorax in one patient. Plain chest roentgenograms, histological pictures and treatment modalities of PIE remain separated from these considered for congenital lobar emphysema, congenital cystic adenomatoid malformation, bronchogenic cyst or lung sequestration. Surgical treatment of PIE is not as universally accepted as in congenital cystic lesions of the lung, in which it's mandatory.
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.
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.
This study using pulsed and continuous wave Doppler echocardiography was designed to achieve a cross-sectional echocardiographic categorization of the fibrous tissues in the environs of perimembranous ventricular septal defects, to determine the mechanism involved in its formation and for qualitative and quantitative evaluation of the anomalies associated with the entity. A total of 67 patients was studied, 23 presented cross-sectional echocardiographic evidence of perimembranous ventricular septal defect in isolation, 12 associated with tissue 'tags' and 32 combined with 'restrictive' tissue in the area of the defect. Four echocardiographic features of the 'restrictive' tissue were observed. In 23 of these 32 patients, it was possible to identify the exact anatomic origin of the 'restrictive' tissue (in seven complete and, in 15, partial involvement of the septal leaflet of the tricuspid valve; in one, prolapse of the aortic valve with a partial involvement of the tricuspid septal leaflet) while in nine the origin remained undetermined. In 20, the 'restrictive' tissue simultaneously protruded into the right atrium and ventricle; only in 12 did it extend exclusively into the right ventricle. Tricuspid insufficiency was detected by pulsed Doppler in 78% of the patients with 'restrictive' tissue and in 23% of the remaining patients. Tricuspid incompetence was severe in only two patients of the first group. Three patients with 'restrictive' tissue (9%) had obstruction to the outlet of the right ventricle and four (13%) patients presented aortic insufficiency. Five patients (16%) with 'restrictive' tissue closing the defect did not present pulsed Doppler evidence of a shunt at the ventricular level.(ABSTRACT TRUNCATED AT 250 WORDS)
Chronic renal failure due to lymphomatous infiltration is rare. We report a case of end-stage renal failure due to bilateral massive lymphomatous infiltration confined to the kidneys and pancreas. Renal insufficiency was due to interstitial fibrosis and striking tubular atrophy.
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.
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We describe 2 brothers with a malformation syndrome consisting of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataract, cleft lip and palate, and combined immunodeficiency. The clinical history of both patients was characterized by severe psychomotor retardation, seizures, recurrent severe respiratory infections, and chronic mucocutaneous candidiasis. The children died of bronchopneumonia at age 2 and 3 years, respectively. Immunological investigations showed, in one sib studied, skin anergy to recall antigens, profound depletion of T4+ lymphocytes, and serum IgG2 deficiency. Necropsy showed agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, and profound hypoplasia of the thymus and of the peripheral lymphoid tissue. The distinctive features of these sibs appear to define a previously undescribed hereditary MCA/MR syndrome. The clinical and pathological findings seem to indicate, as a pathogenetic mechanism, a defect involving the embryonic organization of the central nervous system and of the immune system.
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.
An unusual case of primary bone neoplasm with histologic features of osteoliposarcoma is reported. No more than 5 cases with lesions of corresponding nature can be found in the world literature up to now; our report is the first dealing with a patient of pediatric age.
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).
Subcostal oblique 2-dimensional echocardiography was performed in 64 infants younger than 2 years with complete transposition of the great arteries (TGA) (situs solitus, concordant atrioventricular and discordant ventriculoarterial connections). All patients examined before cardiac catheterization had a correct diagnosis by 2-dimensional echocardiography using the subcostal oblique views. Twelve patients had associated left ventricular (LV) outflow tract obstruction and 7 had right ventricular (RV) outflow obstruction. The standard parasternal views failed to diagnose obstruction in 1 patients with LV outflow obstruction and 5 with RV outflow obstruction; the subcostal left oblique cut and long axis of the left ventricle visualized all left-sided obstructions, and right-sided obstructions were correctly displayed in 5 of 7 cases using a combination of left oblique and right oblique cuts. Two-dimensional echocardiographic subcostal oblique views allow an excellent definition of the morphologic characteristics of RV and LV outflow tracts in patients with TGA and improve the diagnosis of the outflow obstruction in these malformations.
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