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Biomedical subjects

G Beluffi

Publications and source records attributed to G Beluffi.

At least 19 recordsLinked to original sources
PubMed1994

Cortical kidney scan evaluation in the follow-up of children with vesico-ureteric reflux.

We present the results obtained in the follow-up of 66 children with vesico-ureteric reflux (VUR) of different grades (111 refluxing renal units, RU; the VUR being bilateral in 47 children), employing the renal cortical agent 99mTc-aprotinin (TcA). Together with the visual inspection of the scan, we adopted a quantitative approach, expressing the results as the split percent uptake of the injected dose. The detection of morphological anomalies was more frequent in the cases of more severe reflux. Scars were noted in 38 RU, with a higher prevalence in more severe grades, except for grade V where severe impairment was more frequent. With regard to the amount of functioning parenchyma, the probability of a significant loss of nephrons (expressed by a low uptake of TcA), rose with the grades, although the higher grades were not invariably associated with parenchymal failure. The abnormality detection rate is higher by about 2:1 with the TcA scan than with other diagnostic modalities such as i.v. pyelography or echography. No differences were found between RU with or without scars as regards evolution over time; only when the TcA uptake at presentation was lower than 10% was the normal development of the RU likely to be hindered. From these data it can be concluded that early diagnosis is the key factor in the management of these children with VUR; the morpho-functional assessment with TcA uptake is probably the most effective technique for the detection of parenchymal abnormalities. In addition, the test has a high prognostic value, an uptake lower than 10% indicating an unfavourable prognosis.(ABSTRACT TRUNCATED AT 250 WORDS)

Aprotinin↗
PubMed1992

HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome.

The immotile-cilia syndrome (ICS) is a congenital disorder characterized by dysmotility or even complete immotility of the cilia in the ciliated epithelia. The most frequent consequences include recurrent airway infections from early childhood. Neonatal asphyxia often occurs. Males are usually sterile, whereas females may be fertile or infertile. The disease is inherited as an autosomal recessive trait, but previous attempts to localize the ICS susceptibility gene have so far been unsuccessful. Here, we present the case of two sib pairs affected by ICS from two unrelated families. The electron microscopic investigation of nasal biopsies showed structural anomalies of the cilia, characterized by single microtubules or doublets, arranged randomly in the axoneme. Histocompatibility antigen (HLA)-genotyping of all family members revealed: 1) a significant association of ICS with the HLA-DR7; DQW2 haplotype, which is shared by all the affected sibs (P = 0.0099; RR = 25.94); 2) a possible linkage of the ICS susceptibility gene with HLA, both the affected sibs being HLA-identical, the healthy brother in family B being HLA-different (sib-pair analysis: P less than 0.001).

Child, Preschool↗
PubMed1992

Correlation between magnetic resonance imaging of posterior pituitary and neurohypophyseal function in children with diabetes insipidus.

The posterior pituitary lobe and stalk were studied by magnetic resonance imaging in 20 children with diabetes insipidus of different origins: primary familial autosomal dominant (n = 2) or idiopathic (n = 2), and secondary to craniopharyngioma (n = 6, resected in 5), to Langerhans cell histiocytosis (n = 5), to excessive water intake (dipsogenic; n = 3), to renal vasopressin insensitivity (n = 1), and to osmoreceptor dysfunction (n = 1). Of the four children with primary diabetes insipidus, the posterior bright signal was recognizable in two with the familial autosomal dominant form and one with the idiopathic form; in the latter, the pituitary stalk was thin, while it was normal in the first two patients; no posterior hyperintense signal with enlarged and gadolinium-enhanced pituitary stalk was observed in the fourth. The posterior hyperintense signal was absent without evidence of ectopic posterior pituitary tissue regeneration in five children with surgically removed craniopharyngioma and was doubtful in the child with unresected craniopharyngioma; the stalk was unrecognizable in all patients. In the five children with Langherans cell histiocytosis, the posterior bright signal was absent, while the stalk was normal in two and unexpectedly enlarged in three (uniformly in two and mainly at the level of median eminence and hypothalamus in one). All five patients with dipsogenic or nephrogenic diabetes insipidus or osmoreceptor dysfunction had normal images of posterior pituitary lobe and stalk. Normal posterior pituitary bright signal and stalk were found in all 25 healthy control children. Plasma vasopressin was undetectable in all patients except in nephrogenic one, in the child with osmoreceptor dysfunction, and in two of three dipsogenic children, the third mimicking partial neurogenic diabetes insipidus.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1992

Bone changes of mucolipidosis II at different ages. Postmortem study of three cases.

Bone changes are a constant feature of mucolipidosis II, with striking differences between newborns and older children. Intracellular, membrane-bound vacuoles were found in the chondrocytes, osteoblasts, osteocytes, and stromal fibroblasts of three affected children. Osteoclasts and marrow cells were unaffected. Ricketslike lesions were present at birth in the two younger cases, whereas signs of high bone turnover and defective calcification were no longer present in the older child. Severe abnormalities of the metaphyseal plate with the loss of normal cartilage architecture and the absence of endochondral ossification were the major changes in this age group.

Age Factors↗
PubMed1992

[The direct and computed radiographic assessment of vertebral locations in children with acute lymphatic leukemia].

The children affected with acute lymphoblastic leukemia (ALL) often exhibit secondary lesions of the spine. The diagnosis of spinal involvement is currently made by means of conventional radiography in postero-anterior and lateral views. The osteolytic lesions of the vertebral body present with collapse of the vertebral plates in a wide range of severity. Body evaluation is usually made by comparison with the adjacent vertebrae. Since leukemia is a systemic disease, several vertebrae are possibly involved in each case. In the attempt to develop a more sensitive method, which is less dependent on observers' evaluation, a quantitative and comparative analysis of vertebral bodies was performed. The radiographs in lateral view of the dorsal and lumbar spine of 14 children with ALL were analyzed: previous radiological reports suggested the lesion of one or more vertebral bodies. The area of each vertebral body was measured and digitalized by means of a backlighted graphic table and of a software developed to this purpose. The criteria to define the collapse of a vertebral body were the ratio between areas of adjacent vertebral bodies, in conformity to the anatomic and radiographic principle that, in the dorsal and lumbar spine, the body of a normal vertebra is equal to or bigger than that of the upper one. The data obtained by quantitative analysis were compared with conventional radiologic reports. A hundred and fifty-five vertebrae were analyzed by computerized analysis; 17 (10.9%) vertebrae, undetected at conventional analysis, were collapsed. This method allows a more precise diagnosis of collapsed vertebral lesions; its accuracy can be improved with further development of digital technology.

Adolescent↗
PubMed1991

Antley-Bixler syndrome: description of two patients.

The Antley-Bixler syndrome comprises malformations of cartilage and bone. The essential signs are a dysmorphic facies with flattening of the central region of the face, humeroradial synostosis with flexed attitude of the upper limbs and swelling of the distal interphalangeal and metacarpophalangeal articulations. Congenital atresia of the nasal choanae, which is often present, makes the prognosis of this syndrome extremely severe. Two patients affected by the syndrome are described. Atresia of the nasal choanae was absent in both. The first patient had genital ambiguity, a condition which has been described in the literature in only two other cases; the second one had all the fundamental characteristics of the syndrome except for humeroradial synostosis, although hypoplasia of the lateral condyle of the humerus and dislocation of the radius are present in association with synostosis between the 2nd metatarsal and the intermediate cuneiform.

Bone and Bones↗
PubMed1991

Simultaneous (synchronous) occurrence of Ewing sarcoma.

A case of Ewing sarcoma in a girl 13 year-old with multiple bone and soft tissue lesions at the time of diagnosis is presented. The lungs were free from the disease. This patient represents most likely a simultaneous (synchronous) Ewing sarcoma.

Adolescent↗
PubMed1990

Hypothalamic-pituitary dwarfism: comparison between MR imaging and CT findings.

Magnetic Resonance (MR) imaging was carried out on 33 patients with idiopathic growth hormone deficiency, in 22 of whom CT scan had been carried-out previously. Twenty-one patients presented some complications at birth. Both MR and CT were positive in the evaluation of the sella. MR imaging exhibited a higher degree of accuracy than CT in the evaluation of pituitary gland, pituitary stalk and brain anomalies. On the basis of pituitary morphology demonstrated by MR imaging, and perinatal histories, a classification is proposed which divides our patients into three group: A) a first group of 13 patients presenting severe hypoplasia of the anterior pituitary lobe, hypoplasia of the stalk and ectopia of posterior lobe. The underlying cause of these anatomic defects might be developmental in origin, and date from early intrauterine life, probably worsened at birth. B) a second group of 10 patients presenting severe hypoplasia of the anterior pituitary lobe. A perinatal event and birth trauma might be responsible for pituitary damage. C) a third group of 10 patients with no morphological abnormalities of the pituitary gland. A derangement of the neuroendocrine mechanism which control the growth hormone secretion might account for these patients.

Adolescent↗
PubMed1990

Radiographic findings in hereditary multiple exostoses and a new theory of the pathogenesis of exostoses.

Analysis of 330 exostoses in 18 patients affected by hereditary multiple exostoses disease suggested a new classification of exostoses as eccentric or full-thickness. Radiographically arrest of metaphyseal remodeling with failure of coning and persistence of the primary metaphyseal trabeculae was evident in full-thickness exostoses. Similar bone lesions can be obtained experimentally with inhibitors of bone turn-over. A localized, peripheral defect in remodeling over a limited time can give a satisfactory explanation also for the origin of eccentric exostoses. The thesis that this is the basic mechanism of exostosis formation is presented.

Adolescent↗
PubMed1990

Primary sacral bone tumours in children (report of 16 cases with a short literature review).

16 cases of primary sacral bone tumours in children are reported. These include 13 patients with Ewing's sarcoma and 3 with very rare primary sacral bone tumours in childhood--chordoma, haemangiopericytoma and osteoblastoma. All sacral bone tumours, with the exception of Ewing's sarcoma are very rare in childhood. The possibility of a sacral tumour should be considered in a child with radiculopathy. CT and MR make the diagnosis of primary sacral bone tumours much easier with the added possibility of recognition of the true nature of the lesion in many instances. Reports of primary sacral bone tumours in children are scarce. Most of the patients are incorporated in adult series which do not specify the age of the child and the site of the tumour. The purpose of this paper is to describe 16 children with primary sacral bone tumours.

Child↗
PubMed1990

[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↗
PubMed1989

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↗
PubMed1989

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↗
PubMed1989

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↗
PubMed1989

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↗
PubMed1989

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↗