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2.  Herpesvirus-Associated Acute Urticaria: An Age Matched Case-Control Study 
PLoS ONE  2013;8(12):e85378.
Acute and recurrent acute urticaria are often associated with multiple factors including infections and recent data suggest a role for herpesviruses.
To test the null hypothesis, that is, there is no association of herpesvirus infections with urticaria.
Thirty-seven patients between one month and 15 years of age were age matched to 37 controls who were healthy or had mild acute respiratory infections but without urticaria. Patients and controls were followed for 1 to 6 years. Diagnostic studies included DNA detection by real-time PCR for herpes simplex virus (HSV) types 1 and 2, Epstein-Barr virus (EBV), cytomegalovirus (CMV) and human herpesvirus-6 (HHV-6). Tests for other infections included adenovirus, parvovirus B 19, respiratory syncytial virus, influenza A, Group A streptococci, rotavirus, and parasites.
Specific infections were diagnosed in 26 of 37 cases and among 9 of 37 control children (P=0.0002). Single or concomitant herpesvirus infections occurred in 24 cases and in 4 controls (65% vs 11 %, p=0.0003). Cases had 10 HHV-6 infections, 8 CMV infections, 5 EBV infections, and 4 HSV-1 infections.
Herpesvirus infections are associated with acute or recurrent acute urticaria.
PMCID: PMC3874042  PMID: 24386470
3.  Commentary on the last 25 years of Myology 
Acta Myologica  2013;32(3):137.
PMCID: PMC4006282  PMID: 24803839
4.  Pompe disease: a short comment 
Acta Myologica  2013;32(2):77.
PMCID: PMC3866897  PMID: 24399861
5.  Preliminary Evaluation of the Safety and Efficacy of Standard Intravenous Immunoglobulins in Pregnant Women with Primary Cytomegalovirus Infection 
Clinical and Vaccine Immunology : CVI  2012;19(12):1991-1993.
Hyperimmune globulins were reported to prevent and treat fetal cytomegalovirus (CMV) infection during pregnancy. Here, we report that infusions of standard human intravenous immunoglobulin significantly increase CMV IgG titers and avidity indexes in pregnant women, paving the way to their use for passive transfer of maternal CMV humoral immunity to fetuses. Preliminary data on perinatal outcomes of the first 67 newborns are encouraging.
PMCID: PMC3535874  PMID: 23100477
6.  Editorial 
Acta Myologica  2013;32(1):1.
PMCID: PMC3665373
7.  Editorial 
Acta Myologica  2012;31(3):169.
PMCID: PMC3631800  PMID: 23620647
8.  The empowerment of translational research: lessons from laminopathies 
The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009. Here, we highlight the advantages and added value of such a multidisciplinary effort to understand pathogenesis, clinical aspects and try to find a cure for Emery-Dreifuss muscular dystrophy, Mandibuloacral dysplasia, Hutchinson-Gilford Progeria and forms of lamin-linked cardiomyopathy, neuropathy and lipodystrophy.
PMCID: PMC3458975  PMID: 22691392
Laminopathies; Emery-Dreifuss Muscular Dystrophy; Dilated Cardiomyopathy with Conduction Defects; Mandibuloacral Dysplasia; Familial Partial Lipodystrophy Type 2; Hutchinson-Gilford Progeria Syndrome; Rare Diseases; Networking activity; interdisciplinary approach to diseases
9.  Treatment of dystrophinopathic cardiomyopathy: review of the literature and personal results 
Acta Myologica  2012;31(1):24-30.
Cardiomyopathy is an almost universal finding in boys affected by Duchenne muscular dystrophy (DMD). Myocardial changes, as a result of the lack of dystrophin, consist of cell membrane degradation, interstitial inflammation, fatty replacement and fibrosis.
Dystrophinopathic cardiomyopathy generally starts as a preclinical or intermediate stage, with evolution toward advanced stages characterized by ventricle enlargement but also by symptoms and signs of heart failure (dyspnoea, peripheral edema and liver enlargement). However in few patients the dilation could be the first manifestation of the heart involvement.
The ability to detect overt cardiomyopathy increases with age, such that more than 80% of boys older than 18 years will have abnormal systolic function.
Several drugs have been employed with the aim to contrast the evolution of cardiomyopathy toward stages of severe congestive heart failure. A review of cardiac treatment in DMD and personal experience are reported and discussed.
PMCID: PMC3440799  PMID: 22655514
Dystrophinopathic cardiomyopathy; deflazacort; ACE-inhibitors
11.  Cardiac involvement in patients with Spinal Muscular Atrophies 
Acta Myologica  2011;30(3):175-178.
The spinal muscular atrophies (SMAs) include a group of disorders characterized by progressive weakness of the lower motor neurons. Several types of SMAs have been described based on age onset of clinical features: Acute infantile (SMA type I), chronic infantile (SMA type II), chronic juvenile (SMA type III), and adult onset (SMA type IV) forms. The incidence is about 1:6,000 live births with a carrier frequency of 1:40 for the severe form and 1:80 for the juvenile form. The mortality and/or morbidity rates of SMAs are inversely correlated with the age at onset. SMAs are believed to only affect skeletal muscles; however, new data on SMA mice models suggest they may also impact the heart.
Aim of the study was to retrospectively examine the cardiological records of 37 type molecularly confirmed II/III SMA patients, aged 6 to 65 years, in order to evaluate the onset and evolution of the cardiac involvement in these disorders. All patients had a standard ECG and a routine echocardiography. The parameters analysed were the following: Heart rate (HR), PQ interval, PQ segment, Cardiomyopathic Index (ratio QT/PQs), ventricular and supraventricular ectopic beats, pauses ≥ 2,5msec, ventricle diameters, wall and septum thickness, ejection fraction, fiber shortening.
The results showed that HR and the other ECG parameters were within the normal limits except for the Cardiomyopathic Index that was higher than the normal values (2,6-4,2) in 2 patients. Left ventricular systolic function was within the normal limits in all patients. A dilation of the left ventricle without systolic dysfunction was observed in only 2 patients, aged respectively 65 and 63 years; however they were hypertensive and/or affected by coronary artery disease. Data here reported contribute to reassure patients and their clinicians that type II/III SMAs do not present heart dysfunction.
PMCID: PMC3298107  PMID: 22616198
Spinal Muscular Atrophies; heart involvement; cardiomyopathy
13.  Therapeutic effectiveness of echo-guided percutaneous radiofrequency ablation therapy with a LeVeen needle electrode in hepatocellular carcinoma 
AIM: To investigate the results of radiofrequency ablation (RFA) in obtaining the necrosis of hepatocellular carcinoma (HCC) in cirrhotic patients and to assess the results of RFA in relation to recurrence of HCC and survival of the treated patients.
METHODS: Fifty-six consecutive cirrhotic patients with 63 HCCs were treated with RFA between May 2000 and May 2004. The diameter of the HCCs ranged from 1 cm to 5 cm (mean 2.8 cm). In all cases RFA was performed with percutaneous approach under ultrasound guidance using expandable needle electrode (LeVeen needle). Treatment efficacy and recurrence were evaluated with dual-phase spiral computed tomography (CT).
RESULTS: Complete necrosis after single or multiple treatment was achieved in 96.8% (61/63) tumors. We observed recurrence after complete necrosis in 23 patients (41%) during a mean follow-up of 32.3 months. The recurrences were local in 2 patients (8.6%) and in different segments in 21 (91.4%). Major complications occurred in 3 patients (4%). During follow-up period, 32 (57.1%) patients died; 15 due to progression of HCC, 11 from liver failure, 3 from esophageal varices bleeding and 3 from the causes not related to liver disease.
CONCLUSION: RFA with LeVeen needle is an effective and safe treatment for HCC < 5 cm in cirrhotic patients. It has yet to be established how far this treatment influences the survival rate of patients. It becomes important to establish treatments to prevent recurrences in different segments, such as interferon therapy.
PMCID: PMC4087903  PMID: 16534852
Hepatocellular carcinoma; Radiofrequency ablation; Complication; Recurrence

Results 1-13 (13)