Hunter disease is an X-linked lysosomal storage disorder characterized by progressive storage of glycosaminoglycans (GAGs) and multi-organ impairment. The central nervous system (CNS) is involved in at least 50% of cases. Since 2006, the enzymatic replacement therapy (ERT) is available but with no effect on the cognitive impairment, as the present formulation does not cross the blood–brain barrier. Here we report the outcome of 17 Hunter patients treated in a single center. Most of them (11) started ERT in 2006, 3 had started it earlier in 2004, enrolled in the phase III trial, and 3 after 2006, as soon as the diagnosis was made. The liver and spleen sizes and urinary GAGs significantly decreased and normalized throughout the treatment. Heart parameters improved, in particular the left ventricular mass index/m2 decreased significantly. Amelioration of hearing was seen in many patients. Joint range of motion improved in all patients. However, no improvement on respiratory function, eye, skeletal and CNS disease was found. The developmental quotient of patients with a CNS involvement showed a fast decline. These patients were no more testable after 6 years of age and, albeit the benefits drawn from ERT, their quality of life worsened throughout the years. The whole group of patients showed a consistent residual disease burden mainly represented by persistent skeletal disease and frequent need of surgery. This study suggests that early diagnosis and treatment and other different therapies which are able to cross the blood–brain barrier, might in the future improve the MPS II outcome.

Background: The loss of arm function is a common and disabling outcome after stroke. Robot-assisted upper limb (UL) training may improve outcomes. The aim of this study was to explore the effect of robot-assisted training using end-effector and exoskeleton robots on UL function following a stroke in real-life clinical practice. Methods: A total of 105 patients affected by a first-ever supratentorial stroke were enrolled in 18 neurorehabilitation centers and treated with electromechanically assisted arm training as an add-on to conventional therapy. Both interventions provided either an exoskeleton or an end-effector device (as per clinical practice) and consisted of 20 sessions (3/5 times per week; 6–8 weeks). Patients were assessed by validated UL scales at baseline (T0), post-treatment (T1), and at three-month follow-up (T2). The primary outcome was the Fugl-Meyer Assessment for the upper extremity (FMA-UE). Results: FMA-UE improved at T1 by 6 points on average in the end-effector group and 11 points on average in the exoskeleton group (p < 0.0001). Exoskeletons were more effective in the subacute phase, whereas the end-effectors were more effective in the chronic phase (p < 0.0001). Conclusions: robot-assisted training might help improve UL function in stroke patients as an add-on treatment in both subacute and chronic stages. Pragmatic and highmethodological studies are needed to confirm the showed effectiveness of the exoskeleton and end-effector devices.

This evidence suggests that the AHS following a right-hemisphere stroke may involve a disruption of the multisensory representation of the alien limb; instead, self-hand recognition mechanisms may be spared. (PsycINFO Database Record

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Leptin is an adipocyte-derived hormone/cytokine that links nutritional status with neuroendocrine and immune functions. As a hormone, leptin regulates food intake and basal metabolism, and is sexually dimorphic that is, its serum concentration is higher in females than in males with a similar body fat mass. As a cytokine, leptin can affect thymic homeostasis and the secretion of acute-phase reactants such as interleukin-1 and tumour-necrosis factor. Similar to other pro-inflammatory cytokines, leptin promotes Thelper1 (TH1)-cell differentiation and can modulate the onset and progression of autoimmune responses in several animal models. Many studies in animals have demonstrated that leptin levels increase acutely during infection and inflammation. We studied the leptin response to infections in 27 children with bacterial infections mainly respiratory and urinary tract. Serum Amyloid A protein (SAA) and C-reactive protein (CRP) in serum were measured by particle-enhanced immunonephelometric assays (BNProSpec Dade Behring), procalcitonin (PCT) levels were determined by chemiluminescence (Brahms), while leptin levels were measured by an enzymatically amplified two-step sandwich-type immunoassay (DSL). The main results of the study are summarized in the table:Leptin levels increased in all patients independently of their BMI, at diagnosis of the infection and returned to normal levels after treatment. This is an indication of normal expression of leptin genes and leptin receptor and this suggests that leptin is also an inflammatory marker. Similar results have been described in patients with sepsis, whereas the non-increase of leptin levels was associated with increased mortality. The secretion of leptin in the first hours of inflammation in children is stimulated by the endotoxins of bacteria as it has been shown in animal models. Leptin seems to play an important role being part of the cytokine network and modulating the inflammatory-immune response and the host defense mechanisms. MORTALITY OF VERY PRETERM BIRTHS: ASSOCIATIONS WITH TER-MINATIONS OF PREGNANCY AND CONGENITAL ANOMALIES IN THE MOSAIC COHORT.E PAPIERNIK 1 1 THE MOSAIC RESEARCH GROUP (FRANCE) Context: Practices related to screening and termination of pregnancy (TOP) for congenital anomalies (CA) vary within Europe countries and could explain some of the variability in mortality among very preterm births.Methods: The MOSAIC study (1) collected data on all stillbirths and live births between 22 and 31 weeks of gestation in 10 European regions in 2003. Babies transferred to NICU were followed to discharge from hospital. Data were extracted from medical records in the maternity and neonatal wards, including information on reasons for TOP and the presence of a lethal congenital anomaly for stillbirths and live births.Results: There were significant differences in the proportion of termination of pregnancies among stillbirths, ranging from about 50% in the regions in France and Italy to lows in the regions in Poland (9%) and in Germany (17%). In most regions,...