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Biomedical subjects

G Beluffi

Publications and source records attributed to G Beluffi.

At least 55 records · Page 3Linked to original sources

[Portal hypertension of hepatic origin. A qualitative assessment by color and echo Doppler US].

One hundred and twenty-eight subjects were studied: 103 of them were affected with portal hypertension diagnosed both radiologically and clinically. Twenty-five healthy subjects were studied, as a control group, by means of combined real-time US and color Doppler. US parameters were evaluated, specific to chronic hepatopathy, together with the Doppler qualitative parameters relative to splanchnic vessels hemodynamics. Our results allowed a sort of noninvasive angiogram of the portal system to be obtained, which is to be of use for diagnosing portal hypertension, and for assessing its causes, risks, and consequences. This study was also aimed at suggesting an examination protocol for portal hypertension, employing real-time and color Doppler US, which any radiologist with enough experience in abdominal US could use. Color Doppler, although not strictly necessary to obtain good results, dramatically shortens execution times. Moreover, color Doppler allows the method to be more quickly learned.

Adult↗

Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?

Normal levels of adenylate kinase (AK-1) and of alpha 1-acid glycoprotein (ORM1) were found in a girl with a deletion 9q32-qter secondary to a maternal translocation (4q35; 9q32), thus excluding these loci from the deleted region. These results, and comparison with other informative data, map the locus for AK-1 to 9q32 and that for ORM1 to region 9q31-q32. The girl has several signs of the Goltz syndrome (Focal dermal hypoplasia), which is listed in the McKusick catalog (no. 30560) as an X-linked dominant condition. Our finding indicates that the locus for Golz syndrome is autosomal and in region 9q32-qter or that there are two such conditions, one autosomal and one X-linked.

Adenylate Kinase↗

Study of the bone pathology in early mucolipidosis II (I-cell disease).

Histological examination of the bones obtained on autopsy of a 5-month-old child with mucolipidosis II (I-cell disease) revealed inhibition of the growth plate calcification with defective vascular invasion and signs of hyperparathyroidism. These findings are the chondro-osseous basis of the early radiological ricket-like appearance of bones in the neonatal period or soon thereafter. Whether the early skeletal abnormalities of mucolipidosis II result from a primary enzymatic defect of cartilage and bone cells or from factors controlling bone metabolism deserves further study.

Dysostoses↗

Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases.

Evolution of the early bone lesions in two children with mucolipidosis 2 was followed from birth. The progression of the bone changes did not differ from healing of rickets. Low levels of 1,25-(OH)2-D3 were found in one child and he was treated with vitamin D; resolution of the rachitic changes was more rapid than in the untreated child. It is suggested that in mucolipidosis 2 bone reacts to two independent factors, one controlling calcium metabolism, the other depending on the primary lysosomal enzyme defect. Since ricket-like features are not present in the other mucolipidoses or mucopolysaccharidoses, the defect of calcium metabolism seems to be related to the specific enzyme defect of mucolipidosis 2.

Aging↗

Mucolipidosis II: correlation between radiological features and histopathology of the bones.

Twelve cases of Mucolipidosis II (I-cell disease) with a wide range of severity of skeletal involvement were studied. Pathological findings in two cases provided helpful information in understanding the radiographic features of dysostosis multiplex. Inhibition of the growth plate cartilage calcification and rickets-like lesions were observed in the metaphyses. Enhanced subperiosteal remodelling and paratrabecular fibrosis were also evident in the diaphyses. High levels of parathormone were found in one case. This finding supports the hypothesis that bone lesions may be secondary, at least in part, to damage in such viscera as the kidney and/or the liver and that they are mediated by vitamin D and parathormone.

Bone and Bones↗

Thalamic hemorrhage in a 4-year-old child induced by nephro-vascular hypertension.

A child affected by cardiomyopathy from the age of 12 months suddenly manifested right hemiparesis and dysarthria at the age of 48/12 years. Emergency brain CT showed a hemorrhage in progress in the left thalamic area. A severe form of hypertension was concomitant and resisted all pharmacological treatment. Retrograde transfemoral aortography pointed out an atrophy of the right renal artery. This finding, together with the high renin and aldosterone values, indicated a nephrogenic hypertension causing both the cardiomyopathy found at 12 months of age and the endocranial hemorrhage. Right nephrectomy led to normalization of blood pressure.

Cerebral Hemorrhage↗

Congenital cystic adenomatoid malformation of the lung. Presentation of 16 cases.

Congenital cystic adenomatoid malformation (CCAM) of the lung is one of the rarest causes of neonatal distress. The principal radiological sign of CCAM is an intrapulmonary mass of soft tissue density, containing cystic areas of different sizes and shapes. The mass usually compresses the rest of the affected lung and displaces the mediastinum and heart to the opposite side, compressing the lung which is often therefore hypoplastic. If CCAM is diagnosed in utero by ultrasound, the treatment of choice is surgery as soon as possible after birth, with good survival rates. Sixteen cases of CCAM are presented, one with bilateral disease, diagnosed at different times, and one with an associated prune belly syndrome, to be added to the 405 already reported in the literature, and their clinical, radiological and pathological features are described.

Diagnosis, Differential↗

Primary rib tumours in children (report of 27 cases with short literature review).

27 cases of primary malignant and benign rib tumours are reported. The most common malignant rib tumour in childhood is Ewing sarcoma (20 cases). Some other rare bone tumours and tumorous conditions (reticulosarcoma, aneurysmal bone cyst, monostotic rib eosinophilic granuloma, osteoid osteoma and lymphangioma) are also described. In the authors' opinion Ewing sarcoma presents with characteristic clinico-radiographic findings in most of the cases. Other monostotic, primary rib tumours and tumorous conditions in childhood--with the exception of exchondroma and enchondroma--rarely show diagnostic radiographic features.

Adolescent↗

Chronic gastric torsion in infancy: a revisited diagnosis.

Twenty out of 108 infants with vomiting, who underwent an upper gastrointestinal X-ray study during a period of 2 years, showed a peculiar shape and position of the stomach already described as chronic gastric torsion. We examined clinical, radiologic and laboratory findings of these 20 infants. Our results showed that chronic gastric torsion is frequently associated with gastroesophageal reflux and has a wide spectrum of symptoms, complications and nutritional abnormalities.

Female↗

Primary bone tumours of the pelvis in childhood--Ewing's sarcoma of the ilium, pubis and ischium (report of 30 cases). (Part I).

30 children with Ewing's sarcoma, the most common malignant pelvic tumour in childhood, were analysed. The diagnosis of Ewing's sarcoma is relatively easy and can be established in most of the cases on plain radiography. The diagnostic radiographic features of the tumour are discussed. The two most important conditions in differential diagnosis are eosinophilic granuloma and the rare primary bone lymphoma. Osteomyelitis should rarely cause confusion unless the clinico-radiographic findings are not properly evaluated.

Bone Neoplasms↗

Rare, primary iliac, pubic and ischial tumours in children (report of 14 cases)--Part II.

14 cases of rare, primary iliac, pubic and ischial bone tumours or tumorous conditions are reported. These include aneurysmal bone cyst, eosinophilic granuloma, cavernous haemangioma, osteoid osteoma, fibrous dysplasia, fibrous dysplasia with sarcomatous degeneration, chondrosarcoma, lymphoma and atypical malignant histiocytosis. The possibilities to be considered in the accurate radiographic recognition of primary tumours of iliac, pelvic and ischial bones are discussed.

Bone Cysts↗

[Doppler color in the echographic study of hyperplastic parathyroid glands].

The sonographic examination of hyperplastic parathyroid glands is a well-known and appreciated technique. However, its diagnostic contribution is still somehow inadequate, due to the difficult differential diagnosis of the various solid hyperechoic nodular structures in the neck and to the presence of frequently ectopic glands. The combined use of B-mode and color-Doppler US allows the vascular features of suspicious parathyroid nodules to be satisfactorily demonstrated. Higher sensitivity and specificity than conventional US are the main advantages of this technique. Still, further research is needed for B-mode color-Doppler US to actually replace fine needle biopsy in confirming the diagnosis.

Color↗

[Ischemic necrosis of femoral condyles in systemic lupus erythematosus].

Avascular necrosis (AN) of bone is a complication of systemic lupus erythematosus (SLE). In the present paper we describe two patients with SLE who presented an AN of femoral condyles 18 months and 2 years respectively after the diagnosis of the disease. In the second case, together with the destructive change of the symptomatic knee, X-ray films showed an initial involvement, still asymptomatic, of the contralateral knee.

Adolescent↗

Pharmacokinetics of iopamidol 370 in infants and children during ivp.

This research was aimed at evaluating the pharmacokinetic parameters of iopamidol 370 (a nonionic water organic iodine compound) during ivp in infants and children. All children examined in the study had symptomatic recurrent urinary tract infections; they were divided into three groups according to age (0-24 months; 25-72 months; 73-120 months). The contrast medium was injected in a dose of 1 ml/kg + 6 ml. Blood and urine samples were taken at regular time intervals over a 24-hour period in children, whereas in infants only blood samples were collected. Pharmacokinetic parameters were estimated using a bicompartmental open model, as follows: t1/2 alpha (h) = 0.33; t1/2 beta (h) = 1.92; Vc (l/kg) = 0.40; V beta (l/kg) = 0.20; Cl (l/kg) = 0.16. These values were not significantly different, as far as our patients were concerned, from those reported in literature for adults.

Aging↗

Primary bone tumours of the hand. Report of 21 cases.

Twenty-one primary bone tumours of the hand in children from 8 paediatric hospitals are reported. Osteochondromas and enchondromas were not included. Our material consisted of 16 patients with common tumours (3 Ewing's sarcoma, 5 aneurysmal bone cyst, 6 osteoid osteoma and 2 epidermoid cyst) and 5 patients with uncommon tumours (osteoma, simple bone cyst, haemangiopericytoma, capillary angiomatous tumour and benign ossifying fibroma or osteoblastoma). The X-ray diagnosis of the common tumours should have high concordance with histology, whereas that of uncommon tumours is much more difficult and uncertain. The characteristic features of Ewing's sarcoma are stressed as all our children with this tumour had a delayed diagnosis and a fatal outcome. Differential diagnosis with other short tubular bone lesions of the hand - specifically osteomyelitis - is discussed and the possibilities of microscopic diagnosis are stressed.

Adolescent↗