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Biomedical subjects

G Beluffi

Publications and source records attributed to G Beluffi.

At least 19 recordsLinked to original sources
PubMed1999

Genomic organization of the HSET locus and the possible association of HLA-linked genes with immotile cilia syndrome (ICS).

The kinesin-related protein (HSET) gene belongs to the kinesin superfamily, the members of which are involved in cellular transport processes. The HSET gene product was previously characterized by partial cDNA sequencing. The gene is located on the short arm of human Chromosome 6 (6p21.3), at the centromeric end of the major histocompatibility complex. Here, we report the genomic structure of the complete HSET gene together with its flanking loci. Sequence analysis of the 40 kilobase (kb) cosmid clone containing the HSET gene also revealed the presence of several new genes not related to the kinesin superfamily. These include a 60S ribosomal protein L35A-like pseudogene (rPL35A-like) on the telomeric side and a polycomb-like gene (PHF1), a copper tolerance-like gene (CUTA1) and the 5' part of the synaptic ras-GTPase-activating protein (SynGAP) gene centromeric of HSET. In addition, a complete 60S ribosomal protein L12-like (rPL12L) gene in intron 3 of the HSET gene was identified which appears to have an open reading frame. The possible involvement of the HSET gene and a beta-tubulin gene (TUBB) in the pathogenesis of immotile cilia syndrome (ICS) was studied by screening two unrelated ICS families with microtubular defects and suspected HLA linkage for mutations within the HSET gene and the TUBB gene. Four single base substitutions were detected in the HSET gene, and none in the TUBB gene. On the basis of these data, a role of the HSET and TUBB products in the pathogenesis of ICS in the two families is unlikely.

Amino Acid Sequence↗
PubMed1998

Comparison of clinical-radiological and molecular findings in hypochondroplasia.

Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature. A mutation (N540K) in the fibroblast growth factor receptor 3 (FGFR3) gene was described in some patients with this condition. The aims of the study were to identify the frequency of the FGFR3 gene mutation, to define the salient clinical and radiological abnormalities of the affected subjects, and to verify the contribution of molecular findings to the clinical and radiological definition of hypochondroplasia. Based on the most common radiological criteria, we selected 18 patients with a phenotype compatible with hypochondroplasia. Height, sitting height, and cranial circumference were measured in all patients. Radiographs of the lumbar spine, left leg, pelvis, and left hand were also obtained. The presence of the N540K mutation was verified by restriction enzyme digestions. Half of our patients carried the N540K mutation. Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly. The association of the unchanged/narrow interpedicular distance with the fibula longer than the tibia was more common in patients with gene mutation. Although we did not find a firm correlation between genotype and phenotype, in our study the N540K mutation was most often associated with disproportionate short stature, macrocephaly, and with radiological findings of unchanged/narrow interpedicular distance and fibula longer than tibia.

Adolescent↗
PubMed1998

Bilateral glenoid hypoplasia.

A case of bilateral glenoid hypoplasia in a boy afflicted with posterior fossa medulloblastoma is described. Glenoid hypoplasia is a rarely reported bilateral finding either in subjects complaining of shoulder pain or abduction/adduction movements reduction as well as shoulder recurrent dislocations. In this patient as in most of those reported in the literature the finding was incidental and could have been easily overlooked. It consists of shallow, irregular glenoid fossae which are hypoplastic, whereas the humeral heads are normal in size and shape. At the present time there is no explanation for this anomaly.

Adolescent↗
PubMed1998

Radiologic progression in patients with juvenile chronic arthritis treated with methotrexate.

We investigated the rate of radiologic progression, as measured by carpal length, in 26 children with juvenile chronic arthritis who were treated with methotrexate. After 2 years of treatment, the carpal length was significantly more deteriorated in nonresponders in both the "better" wrist (P = .001) and the "worse" wrist (P = .005). These results show that methotrexate may have a "disease modifying" potential in juvenile chronic arthritis.

Adolescent↗
PubMed1998

[Botallo's duct calcification in children: radiologic findings].

INTRODUCTION: Calcification of the ductus and ligamentum Botalli with no cardio-respiratory symptoms is normally a sign of their closure. However, as the calcification can be associated with a patent duct or a ductal aneurysm, its presence must not be misinterpreted. The frequency and the different patterns of this calcification must be known, as well as is diagnostic relevance. It is also important to differentiate it from other types of upper mediastinal calcification. MATERIAL AND METHODS: Thirty-two cases of ducts Botalli calcification were collected over 16 years, during which time period 38,476 children (24,095 males, 14,381 females) were submitted to chest radiography. Patient populations were divided into the following age-groups: preterms-newborns; 2-3 months; 4-6 months; 7-12 months; 2-3 years; 4-6 years; 7-10 years; 11 years on. We studied the ductus Botalli according to the following parameters; conspicuity, location, size and shape of the calcification; prevalence of the radiographic finding in 1,000 patients by gender and age; persistence of the finding in follow-up examinations. RESULTS: The calcification was found in left mediastinal site at the posterior aspect of the 4-6th ribs, ranging 1-6 mm in length, and 1-4 mm in width. It had a round, comma-like or elongated shape. In all, 32 cases of ductal calcification (.83/1000) were found: 14 (44%) were in males (age range 7 months-12 years), 18 (56%) in females (age range 11 months-10 years). Age range analysis shows that the calcification is distributed more evenly in the male population with the highest number of calcified ducts (5 = 94/1000) found in the 4-6 year age group and a relative prevalence in the age group 7-12 months (2 cases = 1.05/1000). A marked prevalence is found in females 4-6 years old (11 cases = 3.8/1000). The duct calcification was an occasional finding during chest radiography for other, more severe conditions in 9 of 14 males and in 6 of 18 females. CONCLUSIONS: No data can be found in the literature on the frequency of ductus Botalli calcification at chest radiography: our results indicate it to be less than 1/1000 (.83/1000). We have found a prevalence of ductus calcification (1.25/1000) in females even though females are less numerous in our population. The ductal calcification is often associated with severe, mostly hematologic, diseases. We believe that the conspicuity of the calcification is due to its density more than to its shape and size. Literature data indicate that ductus calcification may still be visible 6 months to 8 years after its discovery: our results, although on a small series, confirm this observation. The clinical significance of the calcification is still unclear.

Calcinosis↗
PubMed1997

Hypothalamic-pituitary vascularization in pituitary stalk transection syndrome: is the pituitary stalk really transected? The role of gadolinium-DTPA with spin-echo T1 imaging and turbo-FLASH technique.

We examined 14 patients, aged 10-25 years, with idiopathic hypopituitarism. All presented an ectopic posterior pituitary at the median eminence with a hypoplastic anterior pituitary on magnetic resonance imaging (MRI). Eight patients had isolated growth hormone deficit (IGHD) and six had multiple hormone deficits (MPHD). Unenhanced MRI showed the pituitary stalk, which was extremely thin, in only three patients, while T1-weighted images obtained after intravenous injection of gadopentetate dimeglumine (Gd-DTPA) showed a thin pituitary stalk in seven patients (six with IGHD and one with MPHD), demonstrating a preserved vascular component of the stalk. MRI with Gd-DTPA was more sensitive than unenhanced MRI in detecting the pituitary stalk in patients with hypopituitarism with an ectopic posterior pituitary: the stalk was demonstrated in 50 % of the cases (seven patients), versus 21.4 % (three patients) by unenhanced MRI. The dynamic study of the hypothalamo-hypophyseal axis performed with turbo-FLASH sequences after bolus injection of Gd-DTPA showed the residual anterior pituitary to have arterial enhancement times, which suggests that an arterial system compensates for the absent or diminished blood supply from the portal system, independent of stalk detection.

Adolescent↗
PubMed1997

Transplantation of cord blood progenitor cells can promote bone resorption in autosomal recessive osteopetrosis.

Allogeneic BMT has been reported to be the only curative therapy for children with juvenile autosomal recessive osteopetrosis. We report the case of a 14-month-old child in whom bone resorption was observed after cord blood transplantation (CBT). The patient was given CBT from an unrelated newborn matched for five of six HLA antigens. At the time of transplantation, the child presented with neurological symptoms, with feeding problems and visual impairment. A successful engraftment of donor hematopoiesis was demonstrated and the child experienced grade I acute GVHD. Progressive bone clearing was achieved and a bone marrow trephine demonstrated signs of osteoclast function. Despite full engraftment and bone resorption, neurologic deterioration did not improve. This experience documents that CBT can promote the correction of juvenile osteopetrosis. The shorter time needed both to identify an unrelated donor and to perform the transplant, as well as the lower incidence of GVHD make this procedure more appealing than BMT in children lacking an HLA-compatible relative.

Bone Resorption↗
PubMed1997

CD56/neural cell adhesion molecule expression in primary extranodal Ki-1/CD30+ lymphoma. Report of a pediatric case with simultaneous cutaneous and bone localizations.

We describe the clinicopathologic features of an unusual case of CD30+/CD50+ T-cell lymphoma in a child who presented with simultaneous primary extranodal cutaneous and bone localizations. The expression of CD56 (neural cell adhesion molecule, or NCAM) is rare in non-Hodgkin's lymphomas other than in a group of haematopoietic/lymphoid neoplasms of natural killer and natural killer-like T-cells, which usually involve extranodal sites and often pursue an aggressive clinical behavior. Coexpression of CD30 and CD56 in T-cell lymphomas is exceedingly rare, and its biological significance is unknown. Our patient responded well to an intensive chemotherapy regimen, and she is now in complete remission 4 years after discontinuation of chemotherapy. Expression of NCAM could be regarded as responsible, in part, for the extranodal localization of lymphoma cells; expression of CD56 also might contribute to the definition of a subset of CD30+ lymphomas with distinctive clinicopathologic features.

Alkaline Phosphatase↗
PubMed1994

Evolving pituitary hormone deficiency is associated with pituitary vasculopathy: dynamic MR study in children with hypopituitarism, diabetes insipidus, and Langerhans cell histiocytosis.

PURPOSE: To assess pituitary vascularization in children with hypopituitarism, central diabetes insipidus (DI), or Langerhans cell histiocytosis. MATERIALS AND METHODS: Dynamic MR images were obtained through the pituitary stalk after injection of gadopentetate dimeglumine in 21 patients (11 boys and 10 girls, aged 4-17 years) and 10 age-matched control subjects. RESULTS: Initial enhancement of the posterior pituitary lobe occurred simultaneously with that of the straight sinus in all subjects except four patients with central DI and a thick stalk. Enhancement of the entire anterior pituitary lobe was statistically significantly prolonged (P < .005) in the four patients with delayed initial posterior pituitary lobe enhancement. CONCLUSION: Fast-framing dynamic MR imaging provides new information on the blood supply of the hypothalamic pituitary area in normal and abnormal pituitary glands. Enhancement times exceeding 20 seconds for the posterior pituitary lobe and 30 seconds for the anterior pituitary lobe may suggest abnormal vascularization in the hypophyseal arteries and portal system.

Adolescent↗
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↗
PubMed1993

Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva.

A child with myositis ossificans progressiva was treated for 8 years with ethane-1-hydroxy-1,1-diphosphonate (EHDP) 30-40 mg/kg per day. Latterly he complained of severe, progressive bone and joint pain which made standing and walking almost impossible. A radiographic skeletal survey showed diffuse ricket-like lesions. Withdrawal of EHDP therapy produced substantial improvement in his general condition as well as in the radiographic appearance of the bones. Multiple exostoses were observed in this case and, particularly those around the knees, presented a peculiar morphology. This supports the theory that exostoses originate from a defect of metaphyseal modelling.

Adolescent↗
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↗