Olfactory reference plus Truman symptoms in one patient with Gilbert syndrome and antiphospholipid antibodies (Hughes disease) secondary to probable chronic Lyme neuroborreliosis

After reading an article in the journal, regarding affective disorders in patients with rare illnesses, the authors would like to discuss a case of non-affective psychosis, presenting with olfactory reference and Truman symptoms, in a patient with three unusual conditions: Gilbert disease, Hughes syndrome and Lyme neuroborreliosis.

BIOSIMILARS: OPPORTUNITIES, CHALLENGES, AND THE GENERAL PRINCIPLES GOVERNING THEIR DEVELOPMENT AROUND THE GLOBE

Biologic drugs have revolutionized the treatment of many life-threatening and rare illnesses such as cancer and autoimmune diseases. Biologics are broadly referred as substances that are produced by living cells and are used in the treatment, prevention, or diagnosis of diseases. They include a wide range of substances, such as genetic material, antibodies, vaccines, or processes which act by influencing cellular processes that block disease or affect diseased cells. Biologics have become striking treatment options and the size of the market has grown hastily. It is expected that by 2023, most of the patents will expire in the European Union opening a large potential market. Keeping this in mind, the ability to launch substitutes to original biologics, also known as biosimilars, presents many opportunities to generic companies. The field of biosimilars seems to be “breaking” the traditional division between the creations of innovative NCE-based medicines by research-based companies, on the one hand, and, on the other hand, mapping of these medicines by the generic companies. The field of biosimilars so far presents some considerable challenges, namely, regulatory, safety, economic, and legal which are still being debated and discussed in different forums. In this article, we have tried to summarize the general principles and regulations governing the development of biosimilars by regulatory authorities such as the World Health Organization, European Medicines Agency, US Food and Drug Administration, and Health Canada. Furthermore, we have tried to throw some light on the opportunities, challenges, and current scenarios pertaining to biosimilars.

Revisiting the primary bias: the role of innumeracy in the misperception of prevalence of common illnesses

Although people have been repeatedly found to underestimate frequencies of common illnesses and overestimate those of rare illnesses, not much is known about this consistent bias in risk perception, termed “primary bias” in the literature, as well as the origin of its variations among different subpopulations. To fill this gap, we designed and implemented a national survey to compare the perceived and actual prevalence of common illnesses, and to test the hypothesis that numeracy may play an important role in the accuracy of judgments of risk frequencies. Our data were collected through a large online survey conducted in France among a representative sample of the adult population (n = 3,245). The participants were asked to complete a 10-items numeracy scale and to estimate the prevalence of a variety of social conditions and common illnesses such as cancers or heart diseases in the French population by using a percentage scale. The analyses show that (1) participants tend to greatly overestimate the prevalence of conditions affecting small percentages of people, and underestimate those affecting a large percentage of them, (2) the Tversky and Kahneman’s probability weighting function provides an adequate model to represent the discrepancy between the perceived and actual prevalence of these illnesses, and (3) the magnitude of the primary bias varies principally as a function of the respondents’ numeracy. These results suggest that the primary bias that affects perceptions of prevalence of chronic diseases is not fundamentally different from those characterizing other types of probabilistic judgments investigated in the field of psychological and behavioral sciences. They also confirm that numeracy plays a considerable role in people’s ability to transform epidemiological observations from their social environment into more accurate estimates.

Current Status of Pediatric Formulations for Chronic and Acute Children’ Diseases: Applications and Future Perspectives

Infants and other children can be affected by various acute, chronic and many of them rare illnesses. Developing drugs for children is very challenging since they cannot intake tablets or hard oral solid dosage forms. Besides, most of the prescribed pediatric medications are unlicensed. The biggest issue that clinicians have to solve is that dosing in children is not based on weight or surface area of the body, as it happened in adults but is related to age variations in drug absorption, distribution, metabolism, and elimination. Thus, for pediatric patients, various therapeutic approaches have been proposed so as to develop suitable formulations such as liquid dosage forms, flexible capsules, milk-based products, etc. In addition, the administration of current pharmaceutical products to children might lead to some serious side effects which can also happen in adults but with a lower risk. Especially, infants are at high risk of getting poisoned by taking drugs used for adults. Moreover, children are very sensitive to the taste and smell of some pharmaceutical vehicles and can resist to intake them and this situation leads parents to search for tasteless and odorless medications. In this study, the current formulations for various diseases intended to be used in pediatric patients as well as various chronic and acute diseases of childhood are summarized. Authors believe that this review can help professionals who want to work with pediatric formulations to design more efficient and child-friendly drug delivery systems.

Acquisition of Cholera Within the United States

Cholera has been woven into human history through numerous pandemics, with the most recent ongoing since 1961. Global rates of cholera continue to decline, but outbreaks continue to pose diagnostic challenges for clinicians, which delays initiation of treatment and prolongs the disease course. Despite millions of infections and thousands of deaths worldwide each year, cholera remains rare in the United States, with the few cases each year usually being the result of pathogen acquisition while the patient traveled abroad. This article presents a unique case of cholera acquired in the United States, which emphasizes the necessary vigilance of symptom recognition, in the context of appropriate clinical investigation, in ensuring that the patient had a full recovery. Cholera in the United States is exceedingly rare, yet effective diagnosis with early initiation of treatment is known to reduce mortality and shorten disease course. While other more common diagnoses must definitely be excluded first, it is important for cholera to be kept on the differential for patients presenting with treatment refractory, watery diarrhea causing hypotension. This case of a patient with a recent travel history to Hawaii and infection with cholera underscores the importance of investigative medicine and clinical expertise in optimizing patient care, even when presented with rare illnesses.

National legal system in relation to vulnerable population groups

Vulnerable social groups can be recognized in everyday life, and local legal regulations identify them as well. Strategies and laws clearly identify the increased needs of vulnerable groups. Local legislation, for example, observes comparative law trends and attempts to prevent discrimination of persons with disabilities, emphasizes their human rights and creates the legal framework for taking these persons out of the institutional form of protection and including them into the community. In Serbia however, strategies and laws, as well as by-laws, are written in sectors, and not in cross-sectors manner. Proper caring for persons with disabilities, including persons with mental disabilities, requires an integral approach, namely a mutual approach of the social, health, educational and other sectors. True enough, local regulations stress the need for an intersectional approach, but such an approach is scantily applied in practice, so the comprehensive care that would satisfy the multiple needs of persons with mental disabilities often turns out to be less than expected in the community. Pursuant to national laws and basic ethic principals, all citizens of the Republic of Serbia have the right to health protection without discrimination. Therefore, methods for using health protection, easier than the existing ones, should be found for certain vulnerable groups, depending on their characteristics, and so for the Roma as well, and bearing in mind that systemic health regulations in Serbia open the door to special treatment of these groups. The inaccessible approach to health care of the Roma population persists primarily due to insufficient basic health documentation and basic personal documentation. Personal documents are linked with the registered place of residence, which the Roma, largely do not have. The problem is thus on a wider scale and is not only focused on the health sector. As such, it requires a wider, intersectional approach and a coordinated solution to the problem. In the field of palliative care of terminally ill persons, a solution is on the way to be reached through the Strategy for Palliative Care, by reorganizing the health system. The health system as it is cannot fulfill the needs of persons requiring palliative care. Coextensive systems enable establishing hospices as charity organizations in the non-governmental sector, mainly financed from donations. They represent a support to the health system in taking care of terminally ill patients. For now, our legal system does now allow non-governmental organizations to engage in health activities, although there were initiatives in that direction. To some extent, national regulations offer a basis for treatment of patients with rare illnesses, but without specifying their rights to a diagnosis or treatment and without more detailed regulations on the allocation of funds directed towards diagnosing rare illnesses and treatment of the ill. A lack of legal and financial prerequisites makes them subject to discrimination. The very fact that a large number of these patients are children makes them twice as endangered category of population. The legal system has recently started dealing with a regulation that would support persons suffering from rare illnesses, but the implementation of these provisions has still not completely become a reality. The Law on Health Care and Insurance defines children and women in their reproductive period as an especially vulnerable group. The Law on Rights to Healthcare for Children, Pregnant Women and Women on Maternity Leave, has recently been brought. The Law has been brought with an aim of ensuring rights to health care and transportation costs benefits for children, pregnant women and mothers during maternity leave, regardless of the basis on which they have health insurance. The reason for bringing such a law is noble, but the form of the legal act, which was supposed to realize the set goal, was overemphasized and contributed to the already existing over-norming of Serbian legislature. The legal basis for regulating this issue already existed in the umbrella health laws and should have been realized through by-law regulations.