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1دورية أكاديمية
المؤلفون: Schoser, Benedikt, van der Beek, Nadine A M E, Broomfield, Alexander, Brusse, Esther, Diaz-Manera, Jordi, Hahn, Andreas, Hundsberger, Thomas, Kornblum, Cornelia, Kruijshaar, Michelle, Laforet, Pascal, Mengel, Eugen, Mongini, Tiziana, Orlikowski, David, Parenti, Giancarlo, Pijnappel, W W M Pim, Roberts, Mark, Scherer, Thomas, Toscano, Antonio, Vissing, John, van den Hout, Johanna M P, van Doorn, Pieter A, Wenninger, Stephan, van der Ploeg, Ans T
المصدر: Eur J Neurol ; ISSN:1468-1331
مصطلحات موضوعية: EPOC, Pompe disease, enzyme replacement therapy, late‐onset, therapy switch
الوصف: Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials in late-onset Pompe patients, reached marketing authorization by the European Medicines Agency in 2022 and 2023. The European Pompe Consortium (EPOC) updates and extends the scope of the 2017 recommendations for starting, switching and stopping ERT.
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2دورية أكاديمية
المؤلفون: Eser, Daniela, Leicht, Gregor, Lutz, Jürgen, Wenninger, Stephan, Kirsch, Valerie, Schüle, Cornelius, Karch, Susanne, Baghai, Thomas, Pogarell, Oliver, Born, Christine, Rupprecht, Rainer, Mulert, Christoph
المصدر: Human Brain Mapping ; volume 30, issue 2, page 511-522 ; ISSN 1065-9471 1097-0193
الوصف: Experimental panic induction with cholecystokinin tetrapeptide (CCK‐4) is considered as a suitable model to investigate the pathophysiology of panic attacks. While only a few studies investigated the brain activation patterns following CCK‐4, no data are available on the putative involvement of the amygdala in the CCK‐4 elicited anxiety response. We studied the functional correlates of CCK‐4‐induced anxiety in healthy volunteers by means of functional magnetic resonance imaging (fMRI) and region of interest (ROI) analysis of the amygdala. Sixteen healthy volunteers underwent challenge with CCK‐4 compared with placebo in a single‐blind design. Functional brain activation patterns were determined for the CCK‐4‐challenge, the placebo response and anticipatory anxiety (AA). CCK‐4‐induced anxiety was accompanied by a strong and robust activation (random effects analysis, P < 0.00001, uncorrected for multiple testing) in the ventral anterior cingulate cortex (ACC), middle and superior frontal gyrus, precuneus, middle and superior temporal gyrus, occipital lobe, sublobar areas, cerebellum, and brainstem. In contrast, random effects group analysis for placebo and AA using the same level of significance generated no significant results. Using a more liberal level of significance, activations could be observed in some brain regions such as the dorsal part of the ACC during AA (random effects analysis, P < 0.005). Overall functional responses did not differ between panickers and nonpanickers. Only 5 of 11 subjects showed strong amygdala activation. However, ROI analysis pointed towards higher scores in fear items in these subjects. In conclusion, while overall brain activation patterns are not related to the subjective anxiety response to CCK‐4, amygdala activation may be involved in the subjective perception of CCK‐4‐induced fear. Hum Brain Mapp, 2009. © 2007 Wiley‐Liss, Inc.
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3دورية أكاديمية
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 160C, issue 1, page 80-88 ; ISSN 1552-4868 1552-4876
الوصف: Pompe disease (glycogen storage disease type 2 or acid maltase deficiency) is a rare autosomal recessive lysosomal storage disorder. Since the advent of ERT a lot has been learned about the phenotypic spectrum especially in the late onset patients. We describe in detail 44 patients diagnosed with late‐onset Pompe disease (LOPD) at our neuromuscular department from 1985 to 2011 and compare them to patients with LOPD in the literature of the past 40 years. Study of the Munich LOPD group revealed varying musculoskeletal and cardio‐cerebrovascular manifestation patterns. Several of these symptom patterns commonly appeared in conjunction with one another, highlighting the multisystem involvement of this condition. Common symptom patterns include: (i) Classic limb girdle and diaphragmatic weakness, (ii) rigid spine syndrome (RSS), scoliosis, and low body mass, and (iii) several cardio‐cerebrovascular manifestation patterns. The most common presentation, limb girdle and diaphragmatic weakness, appeared in 78% (34/44) of our patients and over 80% of those in the literature. Sixteen percent (7/44) of our patients presented with rigid spine, scoliosis, and low body mass. Although scoliosis had a reported frequency of 33% in the general LOPD patient population, the literature only occasionally reported low body mass and RSS. Importantly, a multisystem extramuscular finding accompanied by cardio‐cerebrovascular manifestations was found in 29% (13/44) of our LOPD patients; the literature showed an increasing prevalence of this latter finding. By examining the phenotype of patients with confirmed LOPD, we found a more subtle clinical multisystem involvement in LOPD. Whether patients presenting with the different symptom patterns respond differently to enzyme replacement therapy remains a key question for future research. © 2012 Wiley Periodicals, Inc.
