scholarly journals Rare Neurological Diseases: an Overreview of Pathophysiology, Epidemiology, Clinical Features and Pharmacoeconomic Considerations in the Treating

Author(s):  
Medo Gutic ◽  
Ardea Milidrag ◽  
Azra Gutic Cikotic ◽  
Milos Danilovic ◽  
Teodora Safiye ◽  
...  

Abstract Rare diseases (RD) are serious chronic diseases affecting small number of people compared to the general population. There are between 6000 and 8000 RDs, which affect about 400 million people worldwide. Drugs used for causal treatment of RDs are called orphan drugs. RDs bear great clinical and economic burden for patients, their families, healthcare systems and society overall. There are at least two reasons for the high cost of treatment of RDs. First, there is no causal therapy for majority of RDs, so exacerbations, complications, and hospitalizations in those patients are common. The second reason is high price of available orphan drugs, which are not cost-effective when traditional pharmacoeconomic evaluation is employed. The pharmacoeconomic aspect of the treatment of RDs is especially important in the field of neurology, since at least one fifth of all RDs is composed of neurological conditions. The aim of this paper was to provide a concise overview of the pathophysiological, epidemiological and clinical characteristics of some of the most important and common rare neurological diseases, with special reference to their impact on society and economy.

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 ◽  
...  

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.


2020 ◽  
Vol 32 (1) ◽  
Author(s):  
Laura Guzman ◽  
Gisela Besa ◽  
Daniela Linares ◽  
Lara González ◽  
Caterina Pont ◽  
...  

Abstract Background The difficulty of finding new treatments for neurological diseases with great impact in our society like Alzheimer’s disease can be ascribed in part to the complexity of the nervous system and the lack of quick and cost-effective screening tools. Such tools could not only help to identify potential novel treatments, but could also be used to test environmental contaminants for their potential to cause neurotoxicity. It has been estimated that 5–10% of the anthropogenic chemicals are developmental neurotoxic (DNT) and exposure to DNT compounds has been linked to several neurological diseases. Within this study we were testing the applicability of a quick and cost-effective behavioural test using zebrafish embryos: the touch-evoked response assay, in this case, an assay evaluating the swimming response to a tap in the tail. Two acetylcholinesterase (AChE) inhibitors positive controls (paraoxon and huprine Y), as well as 10 huprine-derivative compounds were tested and the results were evaluated using 2 different methods, a quantitative and a qualitative one. Results We could show that the methodology presented is able to detect behavioural effects of AChE inhibitors. A good correlation between the results obtained with the quantitative and the qualitative method was obtained (R2 = 0.84). Conclusions Our proposed method enables combination of screening for new drugs with toxicity screening in a whole embryo model alternative to animal experimentation, thereby merging 2 drug development steps into one.


2021 ◽  
Vol 14 (2) ◽  
pp. 92
Author(s):  
Panagiotis Gklinos ◽  
Miranta Papadopoulou ◽  
Vid Stanulovic ◽  
Dimos D. Mitsikostas ◽  
Dimitrios Papadopoulos

Over the last 30 years the role of monoclonal antibodies in therapeutics has increased enormously, revolutionizing treatment in most medical specialties, including neurology. Monoclonal antibodies are key therapeutic agents for several neurological conditions with diverse pathophysiological mechanisms, including multiple sclerosis, migraines and neuromuscular disease. In addition, a great number of monoclonal antibodies against several targets are being investigated for many more neurological diseases, which reflects our advances in understanding the pathogenesis of these diseases. Untangling the molecular mechanisms of disease allows monoclonal antibodies to block disease pathways accurately and efficiently with exceptional target specificity, minimizing non-specific effects. On the other hand, accumulating experience shows that monoclonal antibodies may carry class-specific and target-associated risks. This article provides an overview of different types of monoclonal antibodies and their characteristics and reviews monoclonal antibodies currently in use or under development for neurological disease.


2019 ◽  
Vol 35 (S1) ◽  
pp. 16-16
Author(s):  
Orla Maguire ◽  
Laura McCullagh ◽  
Cara Usher ◽  
Michael Barry

IntroductionThere is ongoing debate as to whether conventional pharmacoeconomic evaluation (PE) methods are appropriate for orphan medicinal products (OMPs). The National Centre for Pharmacoeconomics (NCPE) in Ireland has a well-defined process for conducting pharmacoeconomic evaluations of pharmaceuticals, which is the same for OMPs and non-OMPs. The objective of this study was to identify whether supplementary criteria considered in the pharmacoeconomic evaluation of OMPs would affect final reimbursement recommendations.MethodsA literature search was conducted to identify criteria. Orphan drug pharmacoeconomic evaluations completed by the NCPE between January 2015 and December 2017 were identified and supplementary criteria, where feasible, were applied.ResultsFourteen pharmacoeconomic evaluations were included in the study. Three criteria that could feasibly be applied to the NCPE evaluation process were identified, all three of which essentially broadened the economic perspective of the pharmacoeconomic evaluation. Higher cost-effectiveness threshold: Despite being arbitrarily raised from EUR 45,000/QALY to EUR 100,000/QALY, only one orphan drug demonstrated cost-effectiveness at this higher threshold. Weighted QALY gain: here, a weighted gain of between one and three is applied to drugs demonstrating QALY gains between 10 and 30, respectively. No OMPs included in the study showed a QALY gain of more than 10. Thirteen demonstrated QALY gains less than 10 and one could not be evaluated. Societal perspective: six submissions incorporated societal perspective as a scenario analysis. Despite incremental cost-effectiveness ratios (ICERs) being reduced between 4 percent and 58 percent, only two OMPs demonstrated cost-effectiveness at the higher threshold (EUR 100,000/QALY).ConclusionsApplication of supplementary criteria to the pharmacoeconomic evaluation of OMPs had a minor effect on three products assessed. However, for the majority, the final cost-effectiveness outcomes remained the same. The study highlights that other criteria are being considered in the decision to reimburse.


Author(s):  
Garth M. Bray ◽  
Deanna L. Huggett

AbstractThe National Population Health Study of Neurological Conditions, a partnership between Neurological Health Charities Canada and the Government of Canada, was the largest study of neurological diseases, disorders, and injuries ever conducted in Canada. Undertaken between 2009 and 2013, the expansive program of research addressed the epidemiology, impacts, health services, and risk factors of 18 neurological conditions and estimated the health outcomes and costs of these conditions in Canada through 2031. This review summarizes highlights from the component projects of the study as presented in the synthesis report, Mapping Connections: An Understanding of Neurological Conditions in Canada. The key findings included new prevalence and incidence estimates, documentation of the diverse and often debilitating effects of neurological conditions, and identification of the utilization, economic costs, and current limitations of related health services. The study findings will support health charities, governments, and other stakeholders to reduce the impact of neurological conditions in Canada.


2019 ◽  
Vol 7 (3) ◽  
pp. 253-261
Author(s):  
Hartono Bancong ◽  
Ana Dhiqfaini Sultan ◽  
Subaer Subaer ◽  
Muris Muris

The photoelectric effect experiment generally uses a very sophisticated and expensive apparatus. Some high schools and even universities in Indonesia cannot afford to conduct this experiment because of the high price of the apparatus. The purpose of this study was to develop a user-friendly, and cost-effective teaching aids which can be used to demonstrate the concepts of modern physics related to the photoelectric effect. The stages of this study employed the Four-D model, namely define, design, develop, and disseminate. Based on experts and practitioner evaluation, the developed teaching aids and practicum devices of photoelectric effect experiment were found to be valid and reliable. The results of the experiment by using this developed teaching aids of the photoelectric effect showed that there is a linear relationship between the stopping potential and the frequency of light emitted by the LED. These results are consistent with Millikan's experimental results, the first physicist who succeed in proving Einstein's hypothesis of the photoelectric effect, that in the photoelectric effect the stopping potential does not depend on the intensity of light but depends only on the frequency of light. In this study, the Planck’s constant value obtained is 6.408x10-34 J.s. Although this value is slightly smaller than the accepted value of Planck's constant that is 6.626x10-34 J.s, it is good enough considering the instrumental error occurred during the measurement of current and voltage. Furthermore, the students’ perception of the developed teaching aids and practicum devices of the photoelectric effects experiment are 74.9% (good) and 80.2% (very good), respectively. This indicates that the photoelectric effect experiment teaching aids and practicum devices that have been developed can be used to demonstrate and prove the concepts of modern physics related to the photoelectric phenomena correctly.Keywords: Teaching Aids, Photoelectric Effect, Students’ Perception


2020 ◽  
Vol 58 (6) ◽  
pp. 433-438
Author(s):  
Ill-Joo Lee ◽  
Seung-Chan Hong ◽  
Byung-Sam Kim ◽  
Jae-Kyung Cheon

Technologies for pedestrian safety are increasingly emphasized by Automakers in advance of autonomous driving vehicles. A Night Vision System attached behind the front grille can reduce fatal accidents, especially during the nighttime, however, consumers may hesitate to adopt such systems on account of their high price. High-cost Germanium is used in commercial Night Vision System windows, and therefore replacing it with a cheaper infrared window material can lead to a more affordable system. To achieve this, Zinc Sulfide (ZnS), which has about 70% transmittance in the Long-Wavelength Infrared region of 8~12 μm, was selected for the window substrate material. In this study, we designed, fabricated and characterized a single layer cost-effective anti-reflection coating on a ZnS window substrate using Calcium Fluoride (CaF2). The CaF2 coating was fabricated by E-beam evaporation technique, with Quarter wavelength anti-reflection thickness (QAR). It was characterized by FT-IR, SEM and a thermal camera test module. We found that CaF2 both side coated the ZnS window and exhibited about 10~15% higher transmittance than the ZnS window substrate. In addition the CaF2 coating stably bonded to the ZnS substrate without any internal defects. A thermal camera based window test also showed better detection performance with the CaF2 Coating than a bare ZnS substrate window, which was calculated using the output voltage of the microbolometer thermal sensor.


2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Begmyrat Kulmedov ◽  
Serdar Durdyev

PurposeThe aim of the present study is to assess the selected heating systems (furnace and boiler) commonly used in the dwellings of seven post-USSR (the Union of Soviet Socialist Republics) countries. The systems were assessed in terms of their cost and environmental performance, with natural gas and electricity used as the main source of energy.Design/methodology/approachThe cost-effectiveness and environmental performance of the selected heating systems that have been commonly used in the selected post-USSR countries was assessed. Current energy (natural gas and electricity) prices that are applied in those countries were used.FindingsResults show that the furnace is the cheapest option, while natural gas is the cheapest source of energy, despite its high price in Tajikistan and Kyrgyzstan. Both heating systems could be considered eco-friendly options, although their efficiencies need to be considered at the design stage. Turkmenistan, Uzbekistan and Kazakhstan, which are the top natural gas producers, offer natural gas for the selected heating systems as both cost-effective and eco-friendly options.Practical implicationsA considerable reduction in electricity consumption and less harm to our environment can be achieved through the systems used in residential buildings in the region.Originality/valueThe outcomes of the present study offer value (in terms of cost-effective and eco-friendly options) for the end-users in the region.


Author(s):  
Rory J. O’Connor

Rehabilitation programmes are highly cost-effective interventions that restore people’s independence, dignity, and quality of life. In the past there was an impression that they appeared expensive, which resulted in a lack of enthusiasm to develop them by funding bodies and commissioners. However, the evidence demonstrating the long-term cost-effectiveness of rehabilitation is robust. Many people with long-term neurological conditions will live for many years after the onset of the condition and investment in their physical and psychological functioning early on will, over that person’s lifetime, will result in substantial savings. Nevertheless, calculating economic evaluations can be complicated and the correct measure must be chosen to identify the change produced by the rehabilitation intervention. These data must then be handled appropriately, and any ancillary costs included. The economic impact of the rehabilitation programme is wider than a purely healthcare intervention and will include potential earnings and reduced costs to social care. The economic analyses will also include housing, education, and vocational outcomes, and the effect of the long-term condition on family members who may have a caring role.


Author(s):  
Nilmini Wickramasinghe ◽  
Elie Geisler

The importance of knowledge management (KM) to organizations in today’s competitive environment is being recognized as paramount and significant. This is particularly evident for healthcare both globally and in the U.S. The U.S. healthcare system is facing numerous challenges in trying to deliver cost effective, high quality treatments and is turning to KM techniques and technologies for solutions in an attempt to achieve this goal. While the challenges facing the U.S. healthcare are not dissimilar to those facing healthcare systems in other nations, the U.S. healthcare system leads the field with healthcare costs more than 15% of GDP and rising exponentially. What is becoming of particular interest when trying to find a solution is the adoption and implementation of KM and associated KM technologies in the healthcare setting, an arena that has to date been notoriously slow to adopt technologies and new approaches for the practice management side of healthcare. We examine this issue by studying the barriers encountered in the adoption and implementation of specific KM technologies in healthcare settings. We then develop a model based on empirical data and using this model draw some conclusions and implications for orthopaedics.


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