Marc Dooms and Maria Carvalho; Orphanet Journal of Rare Diseases 201813:1 doi:10.1186/s13023-017-0741-y
When there is no authorized on- or in absence even no off-label treatment for patients with rare diseases, pharmacists have to compound medicinal products to meet the patients special needs. However it is important that there is evidence in the medical and/or pharmaceutical literature for such compounded medications.
When there is no on-label or even no off-label treatment for patients with rare diseases pharmacists have to compound the medication. This needs to be done in the best possible conditions by trained compounders following validates procedures.
In this way medicinal products of the best possible quality will be dispensed to our patients with rare diseases. “When it’s not in the book, it’s up to the cook”.
Sunday, January 7, 2018
Psychometric properties of outcome measures evaluating decline in gait in cerebellar ataxia: a systematic review
Sarah C. Milne, Anna Murphy, Nellie Georgiou-Kristian’s, Eppie M. Yiu, Martin B. Delatycki, Louise A. Corben; Gait & Posture, Available online 4 January 2018, ISSN 0966-6362, doi:10.1016/j.gaitpost.2017.12.031.
Cerebellar ataxia often results in impairment in ambulation secondary to gait pattern dysfunction and compensatory gait adjustments. Pharmaceutical and therapy-based interventions with potential benefit for gait in ataxia are starting to emerge, however evaluation of such interventions is hampered by the lack of outcome measures that are responsive, valid and reliable for measurement of gait decline in cerebellar ataxia.
Cerebellar ataxia often results in impairment in ambulation secondary to gait pattern dysfunction and compensatory gait adjustments. Pharmaceutical and therapy-based interventions with potential benefit for gait in ataxia are starting to emerge, however evaluation of such interventions is hampered by the lack of outcome measures that are responsive, valid and reliable for measurement of gait decline in cerebellar ataxia.
Pediatric Ataxia: Focus on Chronic Disordersca
David R Lynch, Ashley McCormick, Kimberly Schadt, Elizabeth Kichula, Seminars in Pediatric Neurology, Available online 5 January 2018, ISSN 1071-9091, doi:10.1016/j.spen.2018.01.001.
The differential diagnosis of ataxia remains challenging, and efficiently ascertaining the correct cause difficult. Modern genetic diagnostic techniques have provided many answers, but complete understanding of genetic results still requires basic knowledge of the clinical phenotypes. While few ataxias are treatable, the growth in research and clinical trials for the disorders like FRDA and AT suggest that a new era of treatments may soon be available. This will increase the need for precise yet cost-conscious diagnostic approaches.
The differential diagnosis of ataxia remains challenging, and efficiently ascertaining the correct cause difficult. Modern genetic diagnostic techniques have provided many answers, but complete understanding of genetic results still requires basic knowledge of the clinical phenotypes. While few ataxias are treatable, the growth in research and clinical trials for the disorders like FRDA and AT suggest that a new era of treatments may soon be available. This will increase the need for precise yet cost-conscious diagnostic approaches.
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