PubMed | Childrens Hospital Santobono Pausilipon, King Abdulaziz University, Carol Davila University of Medicine and Pharmacy, Christian Medical College and Hospital and 13 more.
Type: Journal Article | Journal: Mediterranean journal of hematology and infectious diseases | Year: 2016
In March 2015, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) implemented a two-step survey on central adrenal insufficiency (CAI) assessment in TM patients and after analysis of the collected data, recommendations for the assessment of hypothalamic-pituitary- adrenal (HPA) axis in clinical practice were defined.To ascertain the current practice for assessment of CAI in thalassemia, the Coordinator of ICET-A sent two questionnaires by email: i) The first to evaluate the current interpretation of basal serum cortisol level (first step) and ii) The second to assess the current usage of ACTH test and the variability in practice (second step). Based on the surveys the core ICET-A group prepared the recommendations for the assessment of suspected CAI in thalassemia (third step).A total of 19 thalassemologists/endocrinologists have participated in the first survey and 35 specialists participated in the second step questionnaire. The study demonstrated a considerable variability in almost all aspects of relevant current criteria used for the diagnosis of CAI. An ROC analysis using peak value > 20 g/dl (> 550 nmol/L), after ACTH stimulation test, was performed with the aim of identifying the optimal basal serum cortisol cut-off. The optimal threshold that maximizes sensitivity plus specificity for morning basal cortisol against peak post-ACTH value >20 g/dl (>550 nmol/L) was 10 g/dl (275 nmol/L). Furthermore, the values associated with the highest negative predictive value (NPV) and highest, positive predictive value (PPV) were 4.20 (115 nmol/L) and 18.45 g/dl (510 nmol/L), respectively. Surprisingly, 20 specialists in thalassemia working in blood bank, thalassemia centres (day hospital), internal medicine, hematology and onco-hematology had poor knowledge and experience in testing for CAI and stopped filling the questionnaire after the second question. In contrast, 9 endocrinologists (8 pediatricians) and 6 hematologists working in collaboration with endocrinologists completed the questionnaire.While waiting for more extensive adequately powered and targeted studies, physicians should adopt an acceptable policy for accurate assessment of HPA in TM patients. Regular surveillance, early diagnosis, treatment and follow-up in a multi-disciplinary specialized setting are also recommended. The ICET-A recommendations are reported in order to facilitate for interested physicians the approach to a successful assessment of adrenal function in thalassemia.
PubMed | University of Catania, University of Padua, Garibaldi Hospital, Alessandro Manzoni Hospital and University Pierre and Marie Curie
Type: | Journal: Revue neurologique | Year: 2016
High altitude may be a factor associated with cerebral venous thrombosis (CVT). As our knowledge of CVT at high altitude is limited, it was decided to pool such information from the available case studies to determine whether high altitude can predispose to CVT.A systematic review of the literature was performed for cases reporting CVT at high altitude. Searches of the PubMed database (up to July 2016) were performed for publications, using cerebral venous thrombosis and high altitude as keywords. Cross-referencing was also done to complete the search.Ultimately, 13 articles were included in our systematic review. The population consisted of 17 patients, predominately male (14/17), with a mean age of 32 (range: 19-47) years. Altitude range was 3000-8200m. Nine patients stayed at high altitude for>2 weeks; the duration of high altitude stay was unknown for the remainder. A hypercoagulable state was found in nine patients: secondary polycythemia in five; protein C deficiency in one; protein S deficiency in one; and factor V Leiden mutations in two. No comorbidities were found in any of these patients.Long-term stays at high altitude in association with a hypercoagulable state-in particular, congenital or acquired thrombophilia-appears to predispose to CVT. The association of CVT with a single exposure to high altitude seems low, but the risk cannot as yet be specifically estimated.
PubMed | Childrens Hospital Santobono Pausilipon, King Abdulaziz University, Carol Davila University of Medicine and Pharmacy, Immunohematology and Blood Bank Unit and 12 more.
Type: Review | Journal: Mediterranean journal of hematology and infectious diseases | Year: 2017
Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complications, mainly due to iron overload, anemia, and chronic liver disease, which require prompt diagnosis, treatment and follow-up by specialists. The most common endocrine complication documented is hypogonadotropic hypogonadism which increases with age and associated comorbidities. It is thus important for physicians to have a clear understanding of the pathophysiology and management of this disorder. Also to be aware of the side effects, contraindications and monitoring of sex steroid therapy. In this paper, practical ICET-A recommendations for the management of hypogonadism in adult females with TM are addressed.In March 2015, the Coordinator of the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) conducted a two-step survey to assess the attitudes and practices of doctors in the ICET-A network taking care of adult female TM patients with hypogonadism. They were clinically characterized by the absence of pubertal development or discontinuation or regression of the maturation of secondary sex characteristics, and biochemically by persistent low FSH, LH and estradiol levels. Recently a supplementary survey on adult female hypogonadism in TM was undertaken within the ICET-A network.The completed questionnaires were returned by 16 of 27 specialists (59.2%) following 590 female TM patients over the age of 18 years; 315 patients (53.3%) had hypogonadism, and only 245 (74.6%) were on hormone replacement therapy (HRT). Contraceptive oral pills (COC) were the first treatment choice in 11 centers (68.7%). A wide range of COCs was used with different progestin contents. In general, the patients compliance to treatment was reported as good in 81.2 % of centers. The frequency of required tests for follow-up HRT, in addition to the regular check-up for thalassemia, was variable in the participating centers.Doctors taking care of TM patients should have sound knowledge of the pathophysiology of hypogonadism in adult females with TM. They should know the potential effects of HRT including advantages and disadvantages of estrogen and progestins. Moreover, they should keep in consideration the emotional needs of these patients dreaming of attaining a full pubertal development.
Scarpini E.,University of Milan |
Bruno G.,University of Rome La Sapienza |
Zappala G.,Garibaldi Hospital |
Adami M.,Janssen Cilag SpA Medical Affairs |
And 4 more authors.
Journal of Alzheimer's Disease | Year: 2011
Galantamine improved symptoms in Alzheimer's disease (AD) patients after 5 to 6 months of treatment. To examine long-term outcomes, this study assessed if continuing of galantamine treatment beyond 12 months delayed further cognitive deterioration. It consisted of two phases: an open label (OL) phase (12 months), followed by a double blind, randomized, placebo controlled withdrawal phase (up to 24 months). Subjects with mild to moderate AD were included in the study and titrated up to 16 mg/day of galantamine. Subjects were eligible to enter the double blind phase if a cognitive decline of <4 points on AD Assessment Scale-cognitive subscale (ADAS-cog)/11 was recorded at the end of the OL phase. The differences between galantamine and placebo in time to dropout were estimated using the Cox proportional hazard model. 47.4% of galantamine and 31.7% of placebo subjects completed the double blind phase. Placebo subjects were more likely to discontinue prematurely than galantamine subjects for any reason (hazard ratio [HR] 1.76, 95% confidence interval [CI] 1.10-2.81, p = 0.02), or lack of efficacy (HR 1.80, 95% CI 1.02-3.18, p = 0.04); no statistically significant difference was seen for a change in ADAS-cog ≥4 between treatment groups (HR 1.66, 95% CI 0.78-3.54, p = 0.19). Subjects who responded to 12 months of galantamine treatment benefited from continued drug therapy for up to 36 months. Galantamine was effective in delaying time to cognitive deterioration in subjects with mild to moderate AD. Treatment was generally safe and well tolerated. © 2011-IOS Press and the authors. All rights reserved.
Zappala G.,Garibaldi Hospital |
Thiebaut de Schotten M.,King's College London |
Thiebaut de Schotten M.,French Institute of Health and Medical Research |
Eslinger P.J.,Penn State Hershey Medical Center
Cortex | Year: 2012
Traumatic brain injury (TBI) is a leading cause of death in the young population and long-term disability in relation to pervasive cognitive-behavioural disturbances that follow frontal lobe damage. To date, emphasis has been placed primarily on the clinical correlates of frontal cortex damage, whilst identification of the contribution of subjacent white matter lesion is less clear. Our poor understanding of white matter pathology in TBI is primarily due to the low sensitivity of conventional neuroimaging to identify pathological changes in less severe traumatic injury and the lack of methods to localise white matter pathology onto individual frontal lobe connections. In this paper we focus on the potential contribution of diffusion tensor imaging (DTI) to TBI. Our review of the current literature supports the conclusion that DTI is particularly sensitive to changes in the microstructure of frontal white matter, thus providing a valuable biomarker of the severity of traumatic injury and prognostic indicator of recovery of function. Furthermore we propose an atlas approach to TBI to map white matter lesions onto individual tracts. In the cases presented here we showed a direct correspondence between the clinical manifestations of the patients and the damage to specific white matter tracts. We are confident that in the near future the application of DTI to TBI will improve our understanding of the complex and heterogeneous clinical symptomatology which follows a TBI, especially mild and moderate head injury, which still represents 70-80% of all clinical population. © 2011 Elsevier Srl.
PubMed | Pitie Salpetriere Hospital, Clinical Translational Science Institute and Garibaldi Hospital
Type: Journal Article | Journal: Acta neurologica Belgica | Year: 2016
Epilepsy is a chronic neurological disorder characterized by recurrent, unprovoked epileptic seizures. The majority of people given a diagnosis of epilepsy have a good prognosis, but 20-30% will develop drug-resistant epilepsy. Vagus nerve stimulation (VNS) is a neuromodulatory treatment that is used as an adjunctive therapy for treating people with medically refractory epilepsy. It consists of chronic intermittent electrical stimulation of the vagus nerve, delivered by a programmable pulse generator (Neuro-Cybernetic Prosthesis). In 1997, the Food and Drug Administration approved VNS as adjunctive treatment for medically refractory partial-onset seizures in adults and adolescents. This article reviews the literature from 1988 to nowadays. We discuss thoroughly the anatomy and physiology of vagus nerve and the potential mechanisms of actions and clinical applications involved in VNS therapy, as well as the management, safety, tolerability and effectiveness of VNS therapy. VNS for partial seizures appears to be an effective and well tolerated treatment in adult and pediatric patients. People noted improvements in feelings of well-being, alertness, memory and thinking skills, as well as mood. The adverse effect profile is substantially different from the adverse effect profile associated with antiepileptic drugs, making VNS a potential alternative for patients with difficulty tolerating antiepileptic drug adverse effects. Despite the passing years and the advent of promising neuromodulation technologies, VNS remains an efficacy treatment for people with medically refractory epilepsy. Past and ongoing investigations in other indications have provided signals of the therapeutic potential in a wide variety of conditions.
Leonardi G.C.,University of Catania |
Candido S.,University of Catania |
Carbone M.,Garibaldi Hospital |
Colaianni V.,Garibaldi Hospital |
And 3 more authors.
International Journal of Molecular Medicine | Year: 2012
Despite recent advances in the management of thyroid cancer, the survival rate of this tumor may still be improved. Therefore, the identification of biological and molecular features of indolent and aggressive disease would be critical to define clinically useful predictors of high-risk lesions. microRNAs (miRNAs) are small RNA molecules with regulatory function and marked tissue specificity that modulate multiple targets belonging to several pathways. They are frequently deregulated in cancer and constitute a new class of blood-based biomarkers useful for cancer detection and prognosis definition, including thyroid cancer. In this review, the role of miRNAs in thyroid cancer development is described. The most common miRNAs detected in thyroid cancer along with their clinical significance are also discussed. Further studies aimed to detect plasma-based miRNA biomarkers in thyroid cancer patients may provide further insight into the management of thyroid cancer.
Pavone V.,University of Catania |
Bianca S.,Garibaldi Hospital |
Grosso G.,University of Catania |
Pavone P.,University of Catania |
And 4 more authors.
Acta Orthopaedica | Year: 2012
Background and purpose: Congenital talipes equinovarus (clubfoot) can present in 2 forms: "syndromic", in which other malformations exist, and the more common "idiopathic" form, where there are no other associated malformations. We analyzed the epidemiology of congenital talipes equinovarus in the Sicilian population, looking for potential etiological factors. Patients and methods: Among the 801,324 live births recorded between January 1991 and December 2004, 827 cases were registered (560 males; M/F sex ratio: 2.1). Control infants were randomly selected from a historical cohort of live births without any major congenital malformations. Results: A positive family history of clubfoot, gender, and maternal smoking were found to be risk factors for clubfoot. Patients with clubfoot were born most frequently during the period January-March. No association was found between clubfoot and reproductive history, peri-conceptional maternal drug exposure, maternal education, or ethnicity. Interpretation: Our findings emphasize the importance of birth defects surveillance programs and their usefulness in investigating potential risk factors. Copyright © 2012 Nordic Orthopaedic Federation.
Ciancio N.,University of Catania |
Galasso M.G.,Garibaldi Hospital |
Campisi R.,University of Catania |
Bivona L.,University of Catania |
And 2 more authors.
Multidisciplinary Respiratory Medicine | Year: 2012
Background: Overexpression of the tumor suppressor gene p53 and the marker for cellular proliferation Ki67 in open lung biopsies are indicated as predictor factors of survival of patients with lung cancer. However, the prognostic value of p53 and Ki67 in fiberoptic bronchial biopsies (FBB) has not been fully investigated. We evaluated p53 and Ki67 immunostaining in FBB from 19 with Non Small-Cell Lung Cancer (NSCLC: 12 adenocarcinomas, 5 squamous cell carcinomas and 2 NSCLC-NOS). Methods: FBB specimens were fixed in formalin, embedded in paraffin, and immunostained using anti-p53 and anti-Ki67 antibodies. Slides were reviewed by two independent observers and classified as positive (+ve) when the number of cells with stained nuclei exceeded 15% for p53 or when >25% positive cells were observed throughout each section for Ki67. Results: Positive (+ve) immunostaining was found in 9 patients for p53 (47.37%) and 8 patients for Ki67 (42.10%). We examined overall survival curves of the patients with Mantel's logrank test, both p53 -ve and Ki67 -ve patients had significantly higher survival rates than p53 + ve (p < 0.005) and Ki67 + ve (p < 0,0001), respectively. Conclusion: This study suggests that negative immunostaining of fiberoptic bronchial biopsies for p53 and Ki67 could represent a better prognostic factor for patients with NSCLC. © 2012 Ciancio et al.; licensee BioMed Central Ltd.
Farina M.G.,University of Catania |
Baratta R.,University of Catania |
Nigro A.,University of Catania |
Vinciguerra F.,University of Catania |
And 5 more authors.
Obesity Surgery | Year: 2012
Background: Intragastric balloon (BioEnterics Intragastric Balloon, BIB® ) or pharmacotherapy are possible options for the treatment of obese patients when traditional approaches have failed. The aim of our study was to compare in obese patients the effect on weight loss and metabolic changes of lifestyle modifications associated with either BIB or pharmacotherapy or the two treatments in sequence as a maintenance strategy for weight loss. Methods: Fifty obese patients were recruited and randomly assigned to lifestyle modifications combined with either BIB for 6 months (n=30) or sibutramine (pharmacotherapy group) for 1 year (n=20). After BIB removal, patients were randomly assigned to either correct lifestyle (BIB/lifestyle) or lifestyle plus pharmacotherapy (BIB/pharmacotherapy). Results: At 6 months, patients treated with BIB lost significantly (P<0.05) more weight (percent of initial weight lost, %IWL=14.5±1.2; percent of excess BMI lost, %EBL=37.7±3.2) than patients who received pharmacological treatment (%IWL=9.1±1.5, %EBL=25.3±4.1). At 1 year, the weight lost was significantly (P<0.05) greater in patients treated with either BIB/pharmacotherapy (%IWL=15.8±2. 3%, %EBL=41.3±6.7%) or BIB/lifestyle (%IWL=14.3±2.7, %EBL=34.9±6.5%) in respect to pharmacotherapy group (%IWL=8.0±1. 4%, %EBL=22.1±3.9%). Moreover, patients treated sequentially with BIB/lifestyle or BIB/pharmacotherapy showed a significant (P<0.05) improvement in insulin sensitivity and triglycerides levels. Conclusions: BIB represents an efficacious long-term obesity treatment when supplemental strategies, as lifestyle modifications or pharmacotherapy, are established for weight maintenance after its removal. © Springer Science+Business Media, LLC 2011.