Dogan, I., Tinnemann, E., Romanzetti, S., Mirzazade, S., Costa, A. S., Werner, C. J., Heim, S., Fedosov, K., Schulz, S., Timmann, D., Giordano, I. A., Klockgether, T., Schulz, J. B. and Reetz, K. (2016), Annals of Clinical and Translational Neurology. doi: 10.1002/acn3.315
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Saturday, June 25, 2016
Friday, June 24, 2016
Is it your Disease or the Patient’s?
Sami L. Bahna, Alexandria Brackett, The American Journal of the Medical Sciences, Available online 24 May 2016, ISSN 0002-9629, doi:10.1016/j.amjms.2016.05.016.
When the illness has several clinical and/or laboratory features but not all features are present in every patient it is usually called a syndrome rather than a disease.
Strictly speaking, apostrophe “s” reflects possessiveness. It is correct when the syndrome or disease is named after the first described patient e.g. Lou Gehrig’s disease. Much more commonly, a syndrome or disease has been linked to the name of the physician or scientist who first described it, as an honorific eponym, e.g. Friedreich ataxia. In such instances, an apostrophe or an “s” should not be used.
When the illness has several clinical and/or laboratory features but not all features are present in every patient it is usually called a syndrome rather than a disease.
Strictly speaking, apostrophe “s” reflects possessiveness. It is correct when the syndrome or disease is named after the first described patient e.g. Lou Gehrig’s disease. Much more commonly, a syndrome or disease has been linked to the name of the physician or scientist who first described it, as an honorific eponym, e.g. Friedreich ataxia. In such instances, an apostrophe or an “s” should not be used.
Thursday, June 23, 2016
Cortico-cerebellar dysfunctions underlying executive deficits in Friedreich’s ataxia
22nd Annual Meeting of the Organization for Human Brain Mapping. Poster Session Tuesday, June 28, 2016. Imis Dogan, Eugenie Tinnemann, Sandro Romanzetti, Shahram Mirzazade, Ana Costa, Cornelius Werner, Stefan Heim, Kathrin Fedosov, Stefanie Schulz, Dagmar Timman-Braun, Ilaria Giordano, Thomas Klockgether, Jörg Schulz, Kathrin Reetz.
Neuropsychological test data provides evidence of executive impairment in individuals with FRDA, in particular pertaining to phonemic verbal fluency and social cognition. During phonological processing, the observed pattern of increased cerebellar and cortical neural response accompanied by impaired cortico-cerebellar functional coupling indicates dysfunctions in cerebro-cerebellar pathways and functional reorganization, which may be driven by disease-related cerebellar damage.
Neuropsychological test data provides evidence of executive impairment in individuals with FRDA, in particular pertaining to phonemic verbal fluency and social cognition. During phonological processing, the observed pattern of increased cerebellar and cortical neural response accompanied by impaired cortico-cerebellar functional coupling indicates dysfunctions in cerebro-cerebellar pathways and functional reorganization, which may be driven by disease-related cerebellar damage.
Tuesday, June 21, 2016
The New Genetic Inheritance: Mechanisms of Inheritance That Mendel Would Not Have Predicted With Sweet Peas
R. Douglas Wilson, Journal of Obstetrics and Gynaecology Canada, Available online 7 June 2016, ISSN 1701-2163, doi:10.1016/j.jogc.2016.04.091.
Most importantly this update is intended to help readers know when they need assistance from a reproductive geneticist for making decisions and providing choices.
TNR disorders are due to genomic instability/expansion. The effects of the TNR expansion are varied with loss of gene expression, a gain of gene function, or abnormal RNA processing. TNR disorders include conditions such as fragile X syndrome, myotonic dystrophy, Huntington disease, spinal bulbar muscular atrophy, and Friedreich ataxia (as well as other inherited ataxias)
Most importantly this update is intended to help readers know when they need assistance from a reproductive geneticist for making decisions and providing choices.
TNR disorders are due to genomic instability/expansion. The effects of the TNR expansion are varied with loss of gene expression, a gain of gene function, or abnormal RNA processing. TNR disorders include conditions such as fragile X syndrome, myotonic dystrophy, Huntington disease, spinal bulbar muscular atrophy, and Friedreich ataxia (as well as other inherited ataxias)
Directions for new developments on statistical design and analysis of small population group trials
Ralf-Dieter Hilgers, Kit Roes, Nigel Stallard and for the IDeAl, Asterix and InSPiRe project groups. Orphanet Journal of Rare Diseases 201611:78 DOI: 10.1186/s13023-016-0464-5.
Open Access. Creative Commons Attribution 4.0 International License
This paper aims to raise awareness of the ongoing research and stimulate other groups to work on statistical methodology on design and analysis of clinical trials in small populations. Having well informed researchers, physicians and biostatisticians will result in the use of more efficient methods to conduct a clinical trial in small population groups and thus bring approved treatments faster to our patients.
Open Access. Creative Commons Attribution 4.0 International License
This paper aims to raise awareness of the ongoing research and stimulate other groups to work on statistical methodology on design and analysis of clinical trials in small populations. Having well informed researchers, physicians and biostatisticians will result in the use of more efficient methods to conduct a clinical trial in small population groups and thus bring approved treatments faster to our patients.
Sunday, June 19, 2016
Oxidative stress in neurological disease: Is it the cause, consequence, or trigger of a chronic progressive form?
J.A. Serra, E.R. Marschoff, R.O. Domínguez, Neurología (English Edition), Available online 17 June 2016, ISSN 2173-5808, doi:10.1016/j.nrleng.2016.06.003.
Systemic oxidative stress (OS) is basically an imbalance between the production of such oxi-dants as reactive oxygen species (ROS) and reactive nitrogenspecies (RNS), and the capacity to neutralise their detrimental effects through both exogenous (diet and medication) and endogenous antioxidants.
Systemic OS is increased in such entities as Alzheimer disease(AD), Parkinson’s disease (PD), amyotrophic lateral sclero-sis (ALS), chronic vascular encephalopathy (CVE), epilepsy,and Friedreich ataxia, among others. Reaching a balance between ROS andantioxidants may possibly diminish the risk of progression of these entities. Therefore, an emphasis should be made on the development of pharmacological studies aimed atminimising systemic OS.
Systemic oxidative stress (OS) is basically an imbalance between the production of such oxi-dants as reactive oxygen species (ROS) and reactive nitrogenspecies (RNS), and the capacity to neutralise their detrimental effects through both exogenous (diet and medication) and endogenous antioxidants.
Systemic OS is increased in such entities as Alzheimer disease(AD), Parkinson’s disease (PD), amyotrophic lateral sclero-sis (ALS), chronic vascular encephalopathy (CVE), epilepsy,and Friedreich ataxia, among others. Reaching a balance between ROS andantioxidants may possibly diminish the risk of progression of these entities. Therefore, an emphasis should be made on the development of pharmacological studies aimed atminimising systemic OS.
Saturday, June 18, 2016
Promising gene therapies pose million-dollar conundrum
Erika Check Hayden, Nature 534, 305–306 (16 June 2016) doi:10.1038/534305a.
Economists, investors and medical insurers can’t figure out how to pay for cutting-edge drugs.
Many of the treatments deliver corrective genes using a modified virus that is considered safer than vectors used in earlier attempts. But many of the target disorders are rare, limiting the population that can be treated. And there are often no previously approved drugs that work similarly, removing the pressure on companies to lower their prices.
Economists, investors and medical insurers can’t figure out how to pay for cutting-edge drugs.
Many of the treatments deliver corrective genes using a modified virus that is considered safer than vectors used in earlier attempts. But many of the target disorders are rare, limiting the population that can be treated. And there are often no previously approved drugs that work similarly, removing the pressure on companies to lower their prices.
Friday, June 17, 2016
Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia
Angela D. Bhalla, Alireza Khodadadi-Jamayran, Yanjie Li, David R. Lynch and Marek Napierala. Annals of Clinical and Translational Neurology. doi: 10.1002/acn3.322
Open access Creative Commons Attribution-NonCommercial-NoDerivs License
Next-generation sequencing of FRDA mitochondrial genomes revealed a widespread increase in mutation load in patient fibroblasts. Although mtDNA damage alone can have profound consequences within the cell, low expression of FXN may also affect the nuclear genome as recent studies have demonstrated shortening of telomeres in cells derived from FRDA patients.
Open access Creative Commons Attribution-NonCommercial-NoDerivs License
Next-generation sequencing of FRDA mitochondrial genomes revealed a widespread increase in mutation load in patient fibroblasts. Although mtDNA damage alone can have profound consequences within the cell, low expression of FXN may also affect the nuclear genome as recent studies have demonstrated shortening of telomeres in cells derived from FRDA patients.
Thursday, June 16, 2016
Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders
R. Brian Sommerville, Margherita Guzzi Vincenti, Kathleen Winborn, Anne Casey, Nathan O. Stitziel, Anne M. Connolly, Douglas L. Mann, Trends in Cardiovascular Medicine, Available online 14 June 2016, ISSN 1050-1738, Doi:10.1016/j.tcm.2016.06.005.
We advocate the development of interdisciplinary cardio-neuromuscular clinics to optimize the care for these patients.
Friedreich Ataxia: Although progressive debilitating ataxia is the most prominent clinical finding in FRDA and generally precedes the onset of cardiac symptoms, heart failure and arrhythmias account for at least 60% of the mortality in FRDA. Importantly, in patients with advanced neurological disease, a subclinical hypertrophic cardiomyopathy may be present despite the absence of overt cardiac symptoms.
We advocate the development of interdisciplinary cardio-neuromuscular clinics to optimize the care for these patients.
Friedreich Ataxia: Although progressive debilitating ataxia is the most prominent clinical finding in FRDA and generally precedes the onset of cardiac symptoms, heart failure and arrhythmias account for at least 60% of the mortality in FRDA. Importantly, in patients with advanced neurological disease, a subclinical hypertrophic cardiomyopathy may be present despite the absence of overt cardiac symptoms.
Wednesday, June 15, 2016
Obstructive Form of Hypertrophic Cardiomyopathy-Left Ventricular Outflow Tract Gradient: Novel Methods of Provocation, Monitoring of Biomarkers, and Recent Advances in the Treatment.
Pawel Petkow Dimitrow and Renata Rajtar-Salwa. Biomed Res Int. 2016; 2016: 1575130. Published online 2016 May 10. doi: 10.1155/2016/1575130
Open access article distributed under the Creative Commons Attribution License
From a practical point of view, the effective monitoring, including biochemical biomarkers indicating reduction of LVOT gradient, is important because this parameter has become a risk factor for sudden death in the 2014 ESC guideline. In this context, the maximized physiological LVOT gradient provocation stimulus seems to be an important diagnostic element. Novel invasive therapeutic techniques have been recently dynamically developed, providing attractive treatment opportunities.
Septal myectomy may be a viable option to relieve symptoms and interrupt progression of heart disease also in selected Friedreich's ataxia patients.
Open access article distributed under the Creative Commons Attribution License
From a practical point of view, the effective monitoring, including biochemical biomarkers indicating reduction of LVOT gradient, is important because this parameter has become a risk factor for sudden death in the 2014 ESC guideline. In this context, the maximized physiological LVOT gradient provocation stimulus seems to be an important diagnostic element. Novel invasive therapeutic techniques have been recently dynamically developed, providing attractive treatment opportunities.
Septal myectomy may be a viable option to relieve symptoms and interrupt progression of heart disease also in selected Friedreich's ataxia patients.
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