Objective: The purpose of this study was to investigate the prevalence of peripheral neuropathy in patients with bthalassaemia. Methods: Thirty six patients with a mean age of 29.2¡8.2 years and 17 healthy controls with a mean age of 27.6¡9.1 were included in this study. Measurements included the neuropathy symptoms score (NSS), the neuropathy disability score (NDS) as well as nerve conduction studies of two motor (ulnar and peroneal) and two sensory (ulnar and sural) nerves of the right limbs. Results: A mainly sensory axonal polyneuropathy was present in 19 out of 36 patients (52.7%). Eight out of these 19 patients also had abnormal NDS values. The neuropathy correlated significantly with the age of the patients and the hematocrit. However, it did not correlate with the presence of antibodies against HCV, the ferritin levels, or with a history of transfusions, desferrioxamine treatment, or splenectomy. Conclusions: This study showed a high prevalence of a predominantly sensory neuropathy in patients with bthalassaemia. The electrophysiological data suggest that the underlying pathology is an axonopathy. Chronic hypoxia of the nerves resulting from severe anaemia may contribute to the pathogenesis of this neuropathy.T halassaemia comprises a heterogeneous group of hereditary disorders characterised by a decrease in the production of one or more globin chains. Multiple complications can result from chronic anaemia on one hand to transfusion related haemosiderosis on the other. The peripheral nervous system, however, is rarely affected. Myopathic syndromes 1-3 and peripheral neuropathy have been reported. [4][5][6] Desferrioxamine (DFO), used as chelation therapy to reduce transfusion induced iron overload, can cause ophthalmological disorders and high frequency sensorineural hearing loss. [7][8][9] Sensorimotor neurotoxicity, associated with high dose DFO treatment has also been reported. 10In this study we evaluated patients with b-thalassaemia clinically and electrophysiologically, and investigated whether factors such as age, clinical severity of thalassaemia (homozygous b or intermedia), antibodies against hepatitis C virus (HCV), ferritin levels, haematocrit (Ht), and history of transfusions, splenectomy, or DFO treatment are associated with abnormal findings. PATIENTS AND METHODSWe examined a consecutive series of 36 patients with thalassaemia (19 women, 17 men; mean age 29.2¡8.2 years, range 16-58) followed up at two tertiary referral centres.Patients with diabetes or other known possible causes of neuropathy were excluded from the study. Thirty two had homozygous b-thalassaemia and four b-thalassaemia intermedia. All patients had normal vitamin B 12 , folic acid, and serum protein electrophoresis and immunofixation. No patient had clinical evidence of visual or auditory dysfunction. The control group consisted of 17 healthy individuals (12 women, 5 men; mean age 27.6¡9.1 years, range 16-55).In all patients the electrophysiological studies were performed by the same investigator. Standard procedures were ...

We electrophysiologically evaluated the autonomic function (AF) in a consecutive series of patients with beta-thalassemia and in normal individuals. Six quantitative autonomic function tests (AFTs) were used: tilt test, hand grip test and sympathetic skin response for sympathetic function; R-R interval, inspiration-expiration difference and 30/15 ratio for parasympathetic function. The prevalence of impaired AF was higher in beta-thalassemia patients (13%, n = 5) than in control subjects (0%, n = 0; p = 0.026). Subclinical autonomic dysfunction appeared to be more prevalent in beta-thalassemia patients compared to controls in our series. Further independent validation of this finding is required in larger cohorts of beta-thalassemia patients.

Objectives:The primary objective of this multicentre, prospective, observational study was to assess whether there is improvement in the patients’ quality of life under treatment with rivastigmine transdermal patch, as it is evaluated both by patients and their caregivers. Compliance to treatment and safety were secondary endpoints.Methods:In total, 1509 patients with mild to moderate Alzheimer’s disease, already treated with rivastigmine transdermal patch 4.6 or 9.5 mg/24 h, were enrolled within a 2.4-month period and prospectively followed up for 2 months on an outpatient basis. The ‘Quality of Life in Alzheimer’s disease (QOL-AD): Patient and Caregiver Report’ questionnaire was used to evaluate quality of life as an effectiveness measure.Results and conclusion:A significant improvement in quality of life, as indicated by a change of 2.7 and 2.5 points in the mean patients’ and caregiver’s QOL-AD: Patient and Caregiver Report score respectively (both p < 0.001) from baseline to end of study was recorded. No serious adverse events were reported. Compliance was high, with 100% compliance reported for almost 9 out of 10 patients at study end.