Cerebellum. 2011 Jun 30. [Epub ahead of print]
Serrao M, Pierelli F, Ranavolo A, Draicchio F, Conte C, Don R, Di Fabio R, Lerose M, Padua L, Sandrini G, Casali C.
Department of Medical and Surgical Science and Biotechnologies, Sapienza University of Rome
Keywords: features of gait, ataxias, autosomal dominant (spinocerebellar ataxia, SCA1 or 2), recessive (Friedreich's ataxia, FRDA) ataxia, motion analysis system, gait kinematic, kinetic data, International Cooperative Ataxia Rating Scale (ICARS).
Friday, July 1, 2011
Wednesday, June 29, 2011
A gene expression phenotype in lymphocytes from Friedreich's Ataxia patients
Annals of Neurology, DOI: 10.1002/ana.22526
Giovanni Coppola MD, Ryan Burnett PhD, Susan Perlman MD, Revital Versano,Fuying Gao, Heather Plasterer PhD, Myriam Rai PhD, Francesco Saccá MD, Alessandro Filla MD, David R. Lynch MD PhD, James R. Rusche PhD, Joel M. Gottesfeld PhD, Massimo Pandolfo MD, Daniel H. Geschwind MD PhD.
Keywords: Biomarker; Gene expression; Friedreich's ataxia; Therapy
Giovanni Coppola MD, Ryan Burnett PhD, Susan Perlman MD, Revital Versano,Fuying Gao, Heather Plasterer PhD, Myriam Rai PhD, Francesco Saccá MD, Alessandro Filla MD, David R. Lynch MD PhD, James R. Rusche PhD, Joel M. Gottesfeld PhD, Massimo Pandolfo MD, Daniel H. Geschwind MD PhD.
Keywords: Biomarker; Gene expression; Friedreich's ataxia; Therapy
Tuesday, June 28, 2011
6th International Conference on Fe‐S Protein Biogenesis and Regulation
6th International Conference on
Fe‐S Protein Biogenesis and Regulation
22 – 25 August 2011 in Cambridge, UK
Fe‐S Protein Biogenesis and Regulation
22 – 25 August 2011 in Cambridge, UK
Sunday, June 26, 2011
The Fitts task reveals impairments in planning and online control of movement in Friedreich ataxia: reduced cerebellar-cortico connectivity?
Neuroscience, doi:10.1016/j.neuroscience.2011.06.057, Available online 25 June 2011.
Louise A. Corben 1, 2, Nellie Georgiou-Karistianis 2, John L. Bradshaw 2, Darren R. Hocking 3, Andrew J. Churchyard 4 and Martin B. Delatycki 1, 5, 6
1 Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia
2 Experimental Neuropsychology Research Unit, School of Psychology and, Psychiatry, Monash University, Clayton, Victoria, Australia
3 Developmental Neuroscience and Genetic Disorders Laboratory, School of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australia
4 Monash Neurology, Monash Medical Centre, Clayton, Victoria, Australia
5 Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
6 Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
KEYWORDS: Friedreich ataxia (FRDA), cognitive and/or psychomotor capacity, cerebellum, cortex, Fitts’ Law, preplanning of movement, online error detection and correction, prefrontal/anterior regions.
Louise A. Corben 1, 2, Nellie Georgiou-Karistianis 2, John L. Bradshaw 2, Darren R. Hocking 3, Andrew J. Churchyard 4 and Martin B. Delatycki 1, 5, 6
1 Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia
2 Experimental Neuropsychology Research Unit, School of Psychology and, Psychiatry, Monash University, Clayton, Victoria, Australia
3 Developmental Neuroscience and Genetic Disorders Laboratory, School of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australia
4 Monash Neurology, Monash Medical Centre, Clayton, Victoria, Australia
5 Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
6 Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
KEYWORDS: Friedreich ataxia (FRDA), cognitive and/or psychomotor capacity, cerebellum, cortex, Fitts’ Law, preplanning of movement, online error detection and correction, prefrontal/anterior regions.
Case Report : Massive uterine leiomyoma in a patient with Friedreich’s ataxia: Is there a possible association?
Case Reports in Medicine, Received 26 May 2011; Accepted 24 June 2011
Evangelos Misiakos, Elli Siama, Dimitrios Schizas, Constantinos Petropoulos, Nick Zavras, Nikos Economopoulos, Alexandros Charalabopoulos, and Anastasios N. Macheras
University of Athens School of Medicine, Athens, Greece.
KEYWORDS: Friedreich’s ataxia, leiomyoma, intestinal obstruction, tumor excision, adhesionlysis, "neoplasms uncommon for their young age".
FULL TEXT PDF
Evangelos Misiakos, Elli Siama, Dimitrios Schizas, Constantinos Petropoulos, Nick Zavras, Nikos Economopoulos, Alexandros Charalabopoulos, and Anastasios N. Macheras
University of Athens School of Medicine, Athens, Greece.
KEYWORDS: Friedreich’s ataxia, leiomyoma, intestinal obstruction, tumor excision, adhesionlysis, "neoplasms uncommon for their young age".
FULL TEXT PDF
Wednesday, June 22, 2011
Echocardiography: A Requisite Friend of the Cardiac Geneticist
Journal of the American Society of Echocardiography
Volume 24, Issue 7 , Pages 790-791, July 2011
Keywords: role of echocardiography in the early detection, frataxin, Friedreich's ataxia, noninvasive application.
Volume 24, Issue 7 , Pages 790-791, July 2011
Keywords: role of echocardiography in the early detection, frataxin, Friedreich's ataxia, noninvasive application.
To Be Targeted: Is the Magic Bullet Concept a Viable Option for Synthetic Nucleic Acid Therapeutics?
Human Gene Therapy. Ahead of print. doi:10.1089/hum.2011.065.
Manfred Ogris and Ernst Wagner.
Pharmaceutical Biotechnology, Ludwig Maximilians University, Munich 81377, Germany.
Keywords: Nucleic acids, genetic disorders, infectious diseases, cancer, viral vectors, synthetic delivery systems, receptor targeting of synthetic vectors, improve the specificity, increase the efficiency of nucleic acid delivery.
Manfred Ogris and Ernst Wagner.
Pharmaceutical Biotechnology, Ludwig Maximilians University, Munich 81377, Germany.
Keywords: Nucleic acids, genetic disorders, infectious diseases, cancer, viral vectors, synthetic delivery systems, receptor targeting of synthetic vectors, improve the specificity, increase the efficiency of nucleic acid delivery.
Monday, June 20, 2011
Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia
Movement Disorders, 26: n/a. doi: 10.1002/mds.23789
Article first published online: 20 JUN 2011
Nachbauer, W., Wanschitz, J., Steinkellner, H., Eigentler, A., Sturm, B., Hufler, K., Scheiber-Mojdehkar, B., Poewe, W., Reindl, M. and Boesch, S
Keywords: Friedreich ataxia; frataxin; skeletal muscle; erythropoietin
Article first published online: 20 JUN 2011
Nachbauer, W., Wanschitz, J., Steinkellner, H., Eigentler, A., Sturm, B., Hufler, K., Scheiber-Mojdehkar, B., Poewe, W., Reindl, M. and Boesch, S
Keywords: Friedreich ataxia; frataxin; skeletal muscle; erythropoietin
Brain Implant Uses The Body's Skin Like A Conductor To Wirelessly Transmit The Brain's Neural Signals To Control A Computer
Medical News Today, Article Date: 17 Jun 2011
A brain implant developed at the University of Michigan uses the body's skin like a conductor to wirelessly transmit the brain's neural signals to control a computer, and may eventually be used to reactivate paralyzed limbs. Read more ....
A brain implant developed at the University of Michigan uses the body's skin like a conductor to wirelessly transmit the brain's neural signals to control a computer, and may eventually be used to reactivate paralyzed limbs. Read more ....
Sunday, June 19, 2011
Pricing and reimbursement of orphan drugs: the need for more transparency
Steven Simoens
Orphanet Journal of Rare Diseases 2011, 6:42doi:10.1186/1750-1172-6-42
Published: 17 June 2011
OPEN ACCES
Abstract (provisional)
Pricing and reimbursement of orphan drugs are an issue of high priority for policy makers, legislators, health care professionals, industry leaders, academics and patients. This study aims to conduct a literature review to provide insight into the drivers of orphan drug pricing and reimbursement. Although orphan drug pricing follows the same economic logic as drug pricing in general, the monopolistic power of orphan drugs results in high prices: a) orphan drugs benefit from a period of marketing exclusivity; b) few alternative health technologies are available; c) third-party payers and patients have limited negotiating power; d) manufacturers attempt to maximise orphan drug prices within the constraints of domestic pricing and reimbursement policies; and e) substantial R&D costs need to be recouped from a small number of patients. Although these conditions apply to some orphan drugs, they do not apply to all orphan drugs. Indeed, the small number of patients treated with an orphan drug and the limited economic viability of orphan drugs can be questioned in a number of cases. Additionally, manufacturers have an incentive to game the system by artificially creating monopolistic market conditions. Given their high price for an often modest effectiveness, orphan drugs are unlikely to provide value for money. However, additional criteria are used to inform reimbursement decisions in some countries. These criteria may include: the seriousness of the disease; the availability of other therapies to treat the disease; and the cost to the patient if the medicine is not reimbursed. Therefore, the maximum cost per unit of outcome that a health care payer is willing to pay for a drug could be set higher for orphan drugs to which society attaches a high social value. There is a need for a transparent and evidence-based approach towards orphan drug pricing and reimbursement. Such an approach should be targeted at demonstrating the relative effectiveness, cost-effectiveness and economic viability of orphan drugs with a view to informing pricing and reimbursement decisions.
FULL TEXT PDF
Orphanet Journal of Rare Diseases 2011, 6:42doi:10.1186/1750-1172-6-42
Published: 17 June 2011
OPEN ACCES
Abstract (provisional)
Pricing and reimbursement of orphan drugs are an issue of high priority for policy makers, legislators, health care professionals, industry leaders, academics and patients. This study aims to conduct a literature review to provide insight into the drivers of orphan drug pricing and reimbursement. Although orphan drug pricing follows the same economic logic as drug pricing in general, the monopolistic power of orphan drugs results in high prices: a) orphan drugs benefit from a period of marketing exclusivity; b) few alternative health technologies are available; c) third-party payers and patients have limited negotiating power; d) manufacturers attempt to maximise orphan drug prices within the constraints of domestic pricing and reimbursement policies; and e) substantial R&D costs need to be recouped from a small number of patients. Although these conditions apply to some orphan drugs, they do not apply to all orphan drugs. Indeed, the small number of patients treated with an orphan drug and the limited economic viability of orphan drugs can be questioned in a number of cases. Additionally, manufacturers have an incentive to game the system by artificially creating monopolistic market conditions. Given their high price for an often modest effectiveness, orphan drugs are unlikely to provide value for money. However, additional criteria are used to inform reimbursement decisions in some countries. These criteria may include: the seriousness of the disease; the availability of other therapies to treat the disease; and the cost to the patient if the medicine is not reimbursed. Therefore, the maximum cost per unit of outcome that a health care payer is willing to pay for a drug could be set higher for orphan drugs to which society attaches a high social value. There is a need for a transparent and evidence-based approach towards orphan drug pricing and reimbursement. Such an approach should be targeted at demonstrating the relative effectiveness, cost-effectiveness and economic viability of orphan drugs with a view to informing pricing and reimbursement decisions.
FULL TEXT PDF
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