Ethical Considerations in Orphan Drug Approval and Use

Ethical Considerations in Orphan Drug Approval and Use. A S Kesselheim. Clinical Pharmacology & Therapeutics (2012); 92 2, 153–155. doi:10.1038/clpt.2012.92  

We conclude that small studies of appropriate design can support US FDA approval of new medicines for rare diseases.

Posturographie

Posturographie. Dagmar Timmann-Braun. Das Neurophysiologie-Labor, Available online 12 July 2012, DOI: http://dx.doi.org/10.1016/j.neulab.2012.05.001

Keywords: static posturography, dynamic posturography, computerized posturography, sensory organization test, postural responses.

Sniffing out the cerebellum

Sniffing out the cerebellum. Henry Houlden, J Neurol Neurosurg Psychiatry doi:10.1136/jnnp-2012-303136

 Keywords: cerebellum, coordination, motor learning, attention, cognition, olfactory processing, Alzheimer's disease (AD), Parkinson's disease (PD), spinocerebellar (SCA), Friedreich's ataxia.

Current Concepts and Controversies in Neurodegeneration with Brain Iron Accumulation

Current Concepts and Controversies in Neurodegeneration with Brain Iron Accumulation. Michael J. Keogh, BMBS, MSc, MRCP, Patrick F. Chinnery, MBBS, PhD, FRCP, FMedSc. Seminars in Pediatric Neurology Volume 19, Issue 2, June 2012, Pages 51–56. DOI: http://dx.doi.org/10.1016/j.spen.2012.03.004

Keywords: Neurodegeneration, brain iron accumulation (NBIA), phenotypic heterogeneity, NBIA pathogenesis.

The Case for Induced Pluripotent Stem Cell-derived Cardiomyocytes in Pharmacological Screening

The Case for Induced Pluripotent Stem Cell-derived Cardiomyocytes in Pharmacological Screening.Jaffar M Khan, Alexander R. Lyon and Sian E. Harding; British Journal of Pharmacology. Accepted manuscript online: 27 JUL 2012 DOI: 10.1111/j.1476-5381.2012.02118.x

Keywords: cardiac, stem cell, embryonic, iPSC, safety, cardiotoxicity, high throughput, drug screening models, human cardiomyocytes, pharmacology.

The Spectrum of Left Ventricular Changes in Friedreich Ataxia—Relation to Age and GAA Repeats in the Frataxin Gene

The Spectrum of Left Ventricular Changes in Friedreich Ataxia—Relation to Age and GAA Repeats in the Frataxin Gene. G. Romanelli, M. Delatycki, L. Donelan, R. Hassam, L. Corben, R. Peverill. Heart, Lung and Circulation, Volume 21, Supplement 1, 2012, Pages S273 DOI: http://dx.doi.org/10.1016/j.hlc.2012.05.668

Keywords: Increased LV RWT, GAA1, LV size, wall thickness or mass, age.

Echocardiographic Parameters in the Assessment of Friedreich's Ataxia with Preserved Left Ventricular Systolic Function

Echocardiographic Parameters in the Assessment of Friedreich's Ataxia with Preserved Left Ventricular Systolic Function. L. Eng, D. Duncan, I. Cukovski, L. Jijnasu, K. Davies, P. Palka. Heart, Lung and Circulation Volume 21, Supplement 1, 2012, Pages S201–S202. http://dx.doi.org/10.1016/j.hlc.2012.05.499.

Keyword: Friedreich's ataxia (FRDA), cardiac dysfunction, ,FRDA cardiomyopathy, left ventricular hypertrophy, diastolic dysfunction, myocardial dysfunction, echocardiographic, cardiac dimensions, Doppler imaging (TDI).

Epigenetic mechanisms governing the process of neurodegeneration

Epigenetic mechanisms governing the process of neurodegeneration. Irfan A. Qureshi, Mark F. Mehler. Molecular Aspects of Medicine, Available online 7 July 2012. DOI: http://dx.doi.org/10.1016/j.mam.2012.06.011

 Keywords: Chromatin, Epigenetic, Histone deacetylase, Histone modification, Neurodegenerative disease, Non-coding RNA.

Unanswered Questions in Friedreich Ataxia.

Unanswered Questions in Friedreich Ataxia. Lynch DR, Deutsch EC, Wilson RB, Tennekoon G.J Child Neurol. 2012 Jul 25. [Epub ahead of print]

Diabetes Mellitus in Children and Adolescents with Genetic Syndromes.

Diabetes Mellitus in Children and Adolescents with Genetic Syndromes.Schmidt F, Kapellen TM, Wiegand S, Herbst A, Wolf J, Fröhlich-Reiterer EE, Rabl W, Rohrer T, Holl RW; for the DPV-Wiss Study Group and the BMBF Competence Network Diabetes.Exp Clin Endocrinol Diabetes. 2012 Mar 22.

 Keywords: genetic syndromes, diabetes mellitus (DM), DPV database, frequency, treatment strategies, long-term complications, paediatric DM patients, Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich ataxia (FA), Alström syndrome (AS), Klinefelter syndrome (KS), Bardet-Biedl syndrome (BBS), Berardinelli-Seip syndrome (BSS), Down syndrome (DS).