Della Nave R.,Radiodiagnostic Unit |
Ginestroni A.,University of Florence |
Tessa C.,Radiology Unit |
Giannelli M.,Pisa Hospital |
And 3 more authors.
American Journal of Neuroradiology | Year: 2010
BACKGROUND AND PURPOSE: HD entails damage of the WM. Our aim was to explore in vivo the regional volume and microstructure of the brain WM in HD and to correlate such findings with clinical status of the patients. MATERIALS AND METHODS: Fifteen HD gene carriers in different clinical stages of the disease and 15 healthy controls were studied with T1-weighted images for VBM and DTI for TBSS. Maps of FA, MD, and λ∥ and λ⊥ were reconstructed. RESULTS: Compared with controls, in addition to neostriatum and cortical GM volume loss, individuals with HD showed volume loss in the genu of the internal capsule and subcortical frontal WM bilaterally, the right splenium of the corpus callosum, and the left corona radiata. TBSS revealed symmetrically decreased FA in the corpus callosum, fornix, external/extreme capsule, inferior fron-to-occipital fasciculus, and inferior longitudinal fasciculus. Areas of increased MD were more extensive and included arciform fibers of the cerebral hemispheres and cerebral peduncles. Increase of the λ∥ and a comparatively more pronounced increase of the λ⊥ underlay the decreased FA of the WM in HD. Areas of WM atrophy, decreased FA, and increased MD correlated with the severity of the motor and cognitive dysfunction, whereas only the areas with increased MD correlated with disease duration. CONCLUSIONS: Microstructural damage accompanies volume decrease of the WM in HD and is correlated with the clinical deficits and disease duration. MR imaging-based measures could be considered as a biomarker of neurodegeneration in HD gene carriers.
Gimenez M.,Endocrinology and Diabetes Unit |
Gimenez M.,CIBER ISCIII |
Gilabert R.,Radiology Unit |
Monteagudo J.,Hemostasia Unit |
And 5 more authors.
Diabetes Care | Year: 2011
OBJECTIVE - To evaluate through early preclinical atherosclerosis assessment whether repeated episodes of hypoglycemia represent an aggravating factor for macrovascular disease in type 1 diabetes. RESEARCH DESIGN AND METHODS - After sample-size calculation, a case-control study of 25 patients with type 1 diabetes and repeated severe/nonsevere hypoglycemia (H-group) compared with 20 age- and sex-matched type 1 diabetes control subjects (C-group) was designed. Assessment of preclinical atherosclerosis consisted of flow-mediated brachial dilatation (FMD) and carotid and femoral intima-media thickness (IMT) studies. To consider hypoglycemia awareness, two different questionnaires and symptomatic response to an acute induction to hypoglycemia were used. Evaluation of the glycemic profile was obtained from continuous glucose monitoring. Endothelial function/inflammation markers were measured in euglycemia/hypoglycemia. A multivariate linear regression analysis was performed to test whether repeated hypoglycemia was independently associated with atherosclerosis. RESULTS - H-group subjects displayed hypoglycemia unawareness and presented a higher percentage of continuous glucose values and area under the curve <70 mg/dl compared with the C-group (14.2±8.9 vs. 6.3±7.1%, P<0.02 and 2.4±1.8 vs. 0.6±1.0 mg/dl/day, P<0.01). The percentage of maximal FMD was lower in the H-group than in the C-group (6.52±2.92 vs. 8.62 ± 3.13%, P < 0.05). A significantly higher IMT was observed at both carotid and femoral sites in the H-group (carotid 0.53±0.09 vs. 0.47±0.08 mm, P<0.05 and femoral 0.51±0.17 vs. 0.39 ± 0.09 mm, P < 0.05). Baseline inflammation and endothelial function markers were higher in the H-group (leukocytes 7.0 ± 1.8 vs. 5.6 ± 1.4 × 10 3/ml, von Willebrand factor 119 ± 29 vs. 93 ± 26%, fibrinogen 2.82 ± 0.64 vs. 2.29 ± 0.44g/l, and soluble intercellular adhesion molecule-1 408 ± 224 vs. 296 ± 95 ng/ml; P < 0.05 for all). CONCLUSIONS - In addition to the induction of hypoglycemia unawareness and an increased risk for severe hypoglycemia, repeated hypoglycemia could be related to and considered an aggravating factor for preclinical atherosclerosis in type 1 diabetes. The precise mechanisms explaining this association remain to be clarified. © 2011 by the American Diabetes Association.
Castellana G.,District Health Center |
Castellana G.,University of Bari |
Gentile M.,Medical Genetics Unit |
Castellana R.,Radiology Unit |
Resta O.,University of Bari
European Respiratory Review | Year: 2015
Pulmonary alveolar microlithiasis (PAM) is a rare disease characterised by the widespread intra-alveolar accumulation of minute calculi called microliths. It is caused by mutation of the SLC34A2 gene encoding the type IIb sodium phosphate cotransporter in alveolar type II cells. The present study explores the epidemiological, familial, genetic, clinical, diagnostic, radiological and therapeutic aspects with the aim of contributing to a better understanding of this uncommon disease. We searched articles on PAM published up to December 2014 and 544 papers were found, accounting for 1022 cases. PAM is present in all continents and in many nations, in particular in Turkey, China, Japan, India, Italy and the USA. Familiality is frequent. The clinical course is not uniform and the causes of this clinical variability seem to be largely nongenetic. The optimal diagnostic procedure is the association of chest high-resolution computed tomography (HRCT) with bronchoalveolar lavage, but a chest radiograph may suffice in families in which a case has already been diagnosed. Moreover, chest radiography and HRCT allow the classification of the evolutionary phase of the disease and its severity. At present lung transplantation is the only effective therapy. However, better knowledge of the gene responsible offers hope for new therapies. © ERS 2015.
Dalla Costa M.,University of Padua |
Mangano F.A.,Radiology Unit |
Betterle C.,University of Padua
Molecular Diagnosis and Therapy | Year: 2014
Background: Graves’ disease (GD) is commonly associated with other autoimmune conditions, and there is also a rare but well documented association between GD and thymic hyperplasia (TH). It is hard to say the real frequency of this latter association because most cases remain asymptomatic and are consequently not thoroughly investigated.Materials and Methods: We reviewed the literature on GD-related thymus enlargement and found 107 cases published to date. Thymic cancer was only documented in four patients, while the majority of cases were diagnosed as TH. The causative mechanisms behind TH associated with GD have yet to be fully elucidated. Several studies support the hypothesis of a TSH receptor antibody (TRAb) mediating thymic enlargement.Results: We report on a female GD patient with an incidentally discovered anterior mediastinal mass. Our case is not consistent with the hypothesis of a TRAb-mediated mechanism because the thymus reached its largest volume at the onset of GD and shrank during remission of GD under medical treatment, despite persistently positive TRAb levels.Conclusion: We support the hypothesis that two different pathogenic mechanisms might be responsible for thymus enlargement: thymic cortical tissue expansion seems to be due to a hyperthyroid state, while lymphoid hyperplasia appears to correlate with immune abnormalities underlying GD. © 2014, Italian Society of Endocrinology (SIE).
Kanterewicz E.,Rheumatology Unit |
Puigoriol E.,Epidemiology Unit |
Garcia-Barrionuevo J.,Radiology Unit |
Del Rio L.,Densitometry Unit |
And 2 more authors.
Osteoporosis International | Year: 2014
Summary: Population-based studies performed with vertebral fracture assessment (VFA) morphometric technology are lacking in postmenopausal osteoporosis. In this study, we show a lower than expected prevalence of vertebral fractures, a high prevalence of minor vertebral deformities, and a clear association with clinical and densitometric parameters indicating the usefulness of this approach. Introduction: Adequate epidemiological data on the prevalence of vertebral fractures (VF) is essential in studies of postmenopausal osteoporosis. Routine DXA-assisted VFA may be useful to determine the presence of VF. However, population-based studies performed with this technology are lacking. We aimed to assess the prevalence of VF and minor deformities in 2,968 postmenopausal women aged 59-70 years from a population-based cohort. Methods: VFA and bone mineral density (BMD) measurements were conducted, and McCloskey criteria (vertebral heights under 3 SD from reference values) confirmed with the Genant method were used to define VF. Additionally, minor vertebral deformities (vertebral heights between -2 and -2.99 SD) were evaluated. Results: The prevalence of VF was 4.3 %, and 17 % of the participants had minor vertebral deformities. Low BMD was frequently observed in women with VF, with 48 %, and 42 % of participants showing osteoporosis and osteopenia. Minor vertebral deformities were observed in nearly 40 % of women with VF. Multivariate logistic regression analysis showed that age, history of previous fracture, osteoporotic BMD, receiving anti-osteoporotic treatment, and current use of glucocorticoids were significantly associated with VF. Conclusions: Although the VFA approach showed a lower than expected prevalence of VF in our cohort, its association with clinical and densitometric parameters may be useful to identify women at risk for developing fragility fractures and may therefore justify its use in longitudinal studies. The high prevalence of minor vertebral deformities detected in patients with VF indicates the need to evaluate this type of deformity as a risk factor for further skeletal fractures. © 2014 International Osteoporosis Foundation and National Osteoporosis Foundation.