scholarly journals Can Innovative Trial Designs in Orphan Diseases Drive Advancement of Treatments for Common Neurological Diseases?

2022 ◽  
Author(s):  
Diane Stephenson ◽  
Cecile Ollivier ◽  
Roberta Brinton ◽  
Jeffrey Barrett
Keyword(s):  
Neurological Diseases ◽  
Orphan Diseases

What is advocacy?

2019 ◽  
pp. 3-20
Author(s):  
Wolfgang Grisold ◽  
Walter Struhal ◽  
Thomas Grisold
Keyword(s):  
Spinal Cord ◽  
Movement Disorders ◽  
Progressive Disease ◽  
Neurological Diseases ◽  
Neuromuscular System ◽  
Orphan Diseases ◽  
Global Issues ◽  
Need Support ◽  
The Brain ◽  
Different Levels

Neurology is concerned with diseases of the brain, spinal cord, and neuromuscular system. Neurological diseases can be acute or chronic, and residual or progressive disease often leaves patients with handicaps and disability. Besides many frequent neurological diseases as stroke, epilepsy, movement disorders and others, neurology also includes rare and orphan diseases. In addition to science, treatment, and care, patients and carers often need support at various levels and for distinct problems ranging from individual to global issues, which will be defined as the micro-, meso-, and macro levels. Advocacy, originally defined as ‘giving a voice’ to patients and creating awareness, becomes an essential component of neurological practice. The term advocacy is used in medical, social, and several other contexts. Advocacy usually requires an advocate, client, or object, and usually another party or position is present. In the medical context, advocacy is often fuelled by altruistic elements. Advocacy in neurology can be achieved by different methods and at different levels. This chapter provides an introduction to the edited volume on ‘Advocacy in Neurology’ and gives an outlook on what the reader can gain from this book by summarizing recurrent themes and highlighting different approaches in individual chapters.

scholarly journals Nucleic Acid–Based Therapeutics in Orphan Neurological Disorders: Recent Developments

2021 ◽  
Vol 8 ◽  
Author(s):  
Olga Khorkova ◽  
Jane Hsiao ◽  
Claes Wahlestedt
Keyword(s):  
Nucleic Acid ◽  
Neurological Disorders ◽  
Rational Design ◽  
Neurological Diseases ◽  
Clinical Stage ◽  
Genetic Research ◽  
Orphan Disease ◽  
Common Disease ◽  
Orphan Diseases ◽  
Recent Developments

The possibility of rational design and the resulting faster and more cost-efficient development cycles of nucleic acid–based therapeutics (NBTs), such as antisense oligonucleotides, siRNAs, and gene therapy vectors, have fueled increased activity in developing therapies for orphan diseases. Despite the difficulty of delivering NBTs beyond the blood–brain barrier, neurological diseases are significantly represented among the first targets for NBTs. As orphan disease NBTs are now entering the clinical stage, substantial efforts are required to develop the scientific background and infrastructure for NBT design and mechanistic studies, genetic testing, understanding natural history of orphan disorders, data sharing, NBT manufacturing, and regulatory support. The outcomes of these efforts will also benefit patients with “common” diseases by improving diagnostics, developing the widely applicable NBT technology platforms, and promoting deeper understanding of biological mechanisms that underlie disease pathogenesis. Furthermore, with successes in genetic research, a growing proportion of “common” disease cases can now be attributed to mutations in particular genes, essentially extending the orphan disease field. Together, the developments occurring in orphan diseases are building the foundation for the future of personalized medicine. In this review, we will focus on recent achievements in developing therapies for orphan neurological disorders.

Minocycline in neurological diseases ? Authors' reply

2005 ◽  
Vol 4 (3) ◽  
pp. 139-139
Author(s):  
L METZ ◽  
V YONG
Keyword(s):  
Neurological Diseases

Minocycline in neurological diseases

2005 ◽  
Vol 4 (3) ◽  
pp. 138-139 ◽  
Author(s):  
F BANDINI
Keyword(s):  
Neurological Diseases

Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospital

2020 ◽  
Vol 78 (8) ◽  
pp. 494-500 ◽  
Author(s):  
Adalberto STUDART-NETO ◽  
Bruno Fukelmann GUEDES ◽  
Raphael de Luca e TUMA ◽  
Antonio Edvan CAMELO FILHO ◽  
Gabriel Taricani KUBOTA ◽  
...  
Keyword(s):  
Neurological Diseases ◽  
Neuromuscular Disorders ◽  
Neurological Symptoms ◽  
University Hospital ◽  
Special Treatment ◽  
Nasal Swabs ◽  
Neurological Exam ◽  
Neurological Conditions ◽  
De Medicina

ABSTRACT Background: More than one-third of COVID-19 patients present neurological symptoms ranging from anosmia to stroke and encephalopathy. Furthermore, pre-existing neurological conditions may require special treatment and may be associated with worse outcomes. Notwithstanding, the role of neurologists in COVID-19 is probably underrecognized. Objective: The aim of this study was to report the reasons for requesting neurological consultations by internists and intensivists in a COVID-19-dedicated hospital. Methods: This retrospective study was carried out at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brazil, a 900-bed COVID-19 dedicated center (including 300 intensive care unit beds). COVID-19 diagnosis was confirmed by SARS-CoV-2-RT-PCR in nasal swabs. All inpatient neurology consultations between March 23rd and May 23rd, 2020 were analyzed. Neurologists performed the neurological exam, assessed all available data to diagnose the neurological condition, and requested additional tests deemed necessary. Difficult diagnoses were established in consensus meetings. After diagnosis, neurologists were involved in the treatment. Results: Neurological consultations were requested for 89 out of 1,208 (7.4%) inpatient COVID admissions during that period. Main neurological diagnoses included: encephalopathy (44.4%), stroke (16.7%), previous neurological diseases (9.0%), seizures (9.0%), neuromuscular disorders (5.6%), other acute brain lesions (3.4%), and other mild nonspecific symptoms (11.2%). Conclusions: Most neurological consultations in a COVID-19-dedicated hospital were requested for severe conditions that could have an impact on the outcome. First-line doctors should be able to recognize neurological symptoms; neurologists are important members of the medical team in COVID-19 hospital care.

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