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1.
Medicina (Kaunas) ; 58(7)2022 Jul 10.
Article in English | MEDLINE | ID: covidwho-1928609

ABSTRACT

Background and Objectives: Achenbach's syndrome is usually a benign, self-limiting clinical condition presented with finger discoloration, pain, and edema. Etiology, pathogenesis, and incidence remain unknown due to the variety of clinical features and the diversity of disease states leading to digital ischemia. COVID-19 primarily affects microcirculation, causing endothelial damage and disseminated microthrombosis. Materials and Methods: We reviewed two cases of Caucasian women with Achenbach's syndrome after COVID-19 infection recovery between April and May 2021. Results: Here are presented two extremely rare cases of paroxysmal finger hematoma in two female patients after COVID-19 infection recovery. Conclusions: The exact etiology and pathophysiology of Achenbach's syndrome remain unclear. It is assumed that SARS-CoV-2 infection could be the triggering factor in the pathophysiological mechanism of paroxysmal finger hematoma. We highly recommend the implication of the synthetic prostacyclin receptor agonist (Iloprost) as a first-line conservative treatment in patients with Achenbach's syndrome and COVID-19 infection recovery.


Subject(s)
COVID-19 , Vascular Diseases , COVID-19/complications , Female , Fingers , Hematoma/complications , Humans , Rare Diseases/pathology , SARS-CoV-2 , Syndrome
2.
Int J Environ Res Public Health ; 19(10)2022 05 16.
Article in English | MEDLINE | ID: covidwho-1911306

ABSTRACT

BACKGROUND: Education plays a fundamental role in everyone's wellbeing. That means it is essential to provide quality inclusive activities to ensure equity and equality of opportunity in order to shape a cohesive, democratic, healthy society. METHODS: In this study we focus on how inclusive educational practice addresses students with rare diseases, looking at teachers' knowledge and opinions in this regard. A questionnaire was administered to 574 teachers who taught in various stages of non-university education to determine their knowledge and opinions about different dimensions: conceptualization, legislation, intervention, and diagnosis. RESULTS: The results suggested various ideas for improvement in pursuit of positive, real inclusion, such as the need to improve teachers' knowledge and understanding of these students' characteristics and potential, with widespread specific training being urgently needed. CONCLUSIONS: in summary, students' rights to education without discrimination is a basic premise of an educational system, leading to the need for a complete educational response that allows each student to develop as a person.


Subject(s)
Educational Personnel , Rare Diseases , Attitude , Curriculum , Educational Status , Humans
3.
Orphanet J Rare Dis ; 17(1): 240, 2022 06 20.
Article in English | MEDLINE | ID: covidwho-1896363

ABSTRACT

People affected by rare diseases want to be involved in research and the search for new treatments. Randomized controlled trials remain the best way of finding new interventions, but many elements of traditional study design are not best suited for rare diseases. Barriers to patients and families include the use of specialist hospital sites for recruitment, requiring frequent site-based study visits for data collection, and a high burden of tests and outcome measures in research. While decentralized clinical trial (DCT) designs have been developed in some rare disease trials, changes necessitated by the COVID-19 pandemic present an opportunity for them to become a standard approach. DCT approaches have been shown to be more resilient to changes in enrolment and attrition during COVID-19 than traditional designs and offer benefits in terms of patient burden, convenience, inclusion, and data quality. Digital tools such as wearable devices and electronic clinical outcome assessments may also provide more convenient and environmentally valid measures of how a condition affects the life of an individual in their regular environment (e.g. mobility around the home versus a hospital corridor). Digital solutions have greater ability to support language localization, accessibility, and may lead to increase access to global rare disease trials. In parallel, challenges exist, such as the technical support, the digital divide, ensuring high quality data, and delivering safe trials.


Subject(s)
COVID-19 , Pandemics , Humans , Outcome Assessment, Health Care , Rare Diseases
4.
Int J Environ Res Public Health ; 19(11)2022 05 26.
Article in English | MEDLINE | ID: covidwho-1892851

ABSTRACT

Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to ascertain the diagnostic process in RDs, and explore the determinants related with having to wait for more than one year in this process (defined as "diagnostic delay"). We conducted a case-control study, using a purpose-designed form from the Spanish Rare Diseases Patient Registry for data-collection purposes. A descriptive analysis was performed and multivariate backward logistic regression models fitted. Based on data on 1216 patients living with RDs, we identified a series of determinants associated with experiencing diagnostic delay. These included: having to travel to see a specialist other than that usually consulted in the patient's home province (OR 2.1; 95%CI 1.6-2.9); visiting more than 10 specialists (OR 2.6; 95%CI 1.7-4.0); being diagnosed in a region other than that of the patient's residence at the date of symptom onset (OR 2.3; 95%CI 1.5-3.6); suffering from a RD of the nervous system (OR 1.4; 95%CI 1.0-1.8). In terms of time taken to see a specialist, waiting more than 6 months to be referred from the first medical visit was the period of time which most contributed to diagnostic delay (PAR 30.2%). In conclusion, this is the first paper to use a collaborative study based on a nationwide registry to address the diagnostic process of patients living with RDs. While the evidence shows that the diagnostic process experienced by these persons is complex, more studies are needed to determine the implications that this has for their lives and those of their families at a social, educational, occupational, psychological, and financial level.


Subject(s)
Delayed Diagnosis , Rare Diseases , Case-Control Studies , Humans , Rare Diseases/diagnosis , Referral and Consultation , Travel
5.
Saúde Soc ; 31(2): e210378es, 2022. tab
Article in Spanish | WHO COVID, LILACS (Americas) | ID: covidwho-1881324

ABSTRACT

Resumen A raíz de la pandemia producida por el impacto del nuevo coronavirus, se adoptaron medidas de confinamiento estricto en España desde el 15 de marzo de 2020. Las medidas afectaron, entre otros sistemas, a la actividad y gestión de las entidades del tercer sector dedicadas a la atención a las personas con enfermedades raras. En este estudio se trató de conocer este impacto, mediante el uso de metodología cualitativa y el software MAXQDA a partir de una muestra de 81 entidades participantes en el estudio. Del análisis de la información obtenida se pudo extraer que el confinamiento no ha supuesto un impacto homogéneo en la gestión de las entidades. Destaca la reducción de sus actividades de visibilidad con el consiguiente impacto social y psicoafectivo. Ello pone de manifiesto una debilidad estructural previa que con esta situación se ha visto agravada. Este estudio también profundiza en los ajustes que estas entidades han realizado para poder seguir prestando sus servicios de apoyo, así como el impacto que ha tenido en sus escasas plantillas y equipos directivos.


Abstract As a result of the pandemic caused by the impact of the SAR-Cov-2 orthocoranavirus, strict containment measures were adopted in Spain from March 15, 2020. These measures affected, among other systems, the activity and management of third sector entities dedicated to the care of people with rare diseases. In this study we tried to know this impact, using qualitative methodology and MAXQDA software from a sample of 81 entities participating in the study. From the analysis of the information obtained, it was possible to draw the conclusion that confinement has not had a homogeneous impact on the management of the organizations. The reduction of their visibility activities stands out, with the consequent social and psycho-affective impact. This highlights a previous structural weakness that has been aggravated by this situation. The study also delves into the adjustments that these entities have made in order to be able to continue providing their support services, as well as the impact this has had on their scarce staff and management teams.


Subject(s)
Humans , Male , Female , Social Change , Social Isolation , Rare Diseases , COVID-19 , Delivery of Health Care , Qualitative Research
8.
Orphanet J Rare Dis ; 17(1): 166, 2022 04 12.
Article in English | MEDLINE | ID: covidwho-1789126

ABSTRACT

BACKGROUND: Several common conditions have been widely recognised as risk factors for COVID-19 related death, but risks borne by people with rare diseases are largely unknown. Therefore, we aim to estimate the difference of risk for people with rare diseases comparing to the unaffected. METHOD: To estimate the correlation between rare diseases and COVID-19 related death, we performed a retrospective cohort study in Genomics England 100k Genomes participants, who tested positive for Sars-Cov-2 during the first wave (16-03-2020 until 31-July-2020) of COVID-19 pandemic in the UK (n = 283). COVID-19 related mortality rates were calculated in two groups: rare disease patients (n = 158) and unaffected relatives (n = 125). Fisher's exact test and logistic regression was used for univariable and multivariable analysis, respectively. RESULTS: People with rare diseases had increased risk of COVID19-related deaths compared to the unaffected relatives (OR [95% CI] = 3.47 [1.21- 12.2]). Although, the effect was insignificant after adjusting for age and number of comorbidities (OR [95% CI] = 1.94 [0.65-5.80]). Neurology and neurodevelopmental diseases was significantly associated with COVID19-related death in both univariable (OR [95% CI] = 4.07 [1.61-10.38]) and multivariable analysis (OR [95% CI] = 4.22 [1.60-11.08]). CONCLUSIONS: Our results showed that rare disease patients, especially ones affected by neurology and neurodevelopmental disorders, in the Genomics England cohort had increased risk of COVID-19 related death during the first wave of the pandemic in UK. The high risk is likely associated with rare diseases themselves, while we cannot rule out possible mediators due to the small sample size. We would like to raise the awareness that rare disease patients may face increased risk for COVID-19 related death. Proper considerations for rare disease patients should be taken when relevant policies (e.g., returning to workplace) are made.


Subject(s)
COVID-19 , COVID-19/genetics , Cohort Studies , England , Genomics , Humans , Pandemics , Rare Diseases/epidemiology , Rare Diseases/genetics , Retrospective Studies , SARS-CoV-2
9.
Adv Drug Deliv Rev ; 184: 114197, 2022 05.
Article in English | MEDLINE | ID: covidwho-1763526

ABSTRACT

Gene therapy has emerged as a potential platform for treating several dreaded and rare diseases that would not have been possible with traditional therapies. Viral vectors have been widely explored as a key platform for gene therapy due to their ability to efficiently transport nucleic acid-based therapeutics into the cells. However, the lack of precision in their delivery has led to several off-target toxicities. As such, various strategies in the form of non-viral gene delivery vehicles have been explored and are currenlty employed in several therapies including the SARS-CoV-2 vaccine. In this review, we discuss the opportunities lipid nanoparticles (LNPs) present for efficient gene delivery. We also discuss various synthesis strategies via microfluidics for high throughput fabrication of non-viral gene delivery vehicles. We conclude with the recent applications and clinical trials of these vehicles for the delivery of different genetic materials such as CRISPR editors and RNA for different medical conditions ranging from cancer to rare diseases.


Subject(s)
COVID-19 , Nanoparticles , Nucleic Acids , COVID-19 Vaccines , Humans , Lipids , Liposomes , Microfluidics , Rare Diseases , SARS-CoV-2
12.
Orphanet J Rare Dis ; 17(1): 78, 2022 02 23.
Article in English | MEDLINE | ID: covidwho-1714660

ABSTRACT

BACKGROUND: Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase. The severity of HPP is widely diverse from the perinatal form to the adult mild form. The former represents the most severe form and was earlier associated with high mortality due to pneumonia which was caused by severe hypomineralization of the bones-such as chest deformity and fractured ribs-and muscle weakness. Enzyme replacement therapy using asfotase alfa (AA) was approved in 2015 in Japan for treating patients with HPP and has improved their pulmonary function and life prognosis. There are several practical and ethical challenges related to using orphan drugs for a rare disorder in a publicly funded healthcare system. Sharing experiences about their application is essential towards formulating guidelines to assist clinicians with decisions about their initiation and withdrawal. We report the details of AA experience in ten cases of pediatric-onset HPP in nine families from January 2015 to November 2019 (median [interquartile range] age 11.0 [7.6-12.5] years; 60% male). This is a study of a single-center cohort describing the clinical course of patients with HPP, mainly consisting of the mild childhood form of HPP, treated with AA in Japan. RESULTS: One case of perinatal form of HPP, two cases of benign prenatal form, and seven cases of childhood form were observed. The most common symptom at onset was pain. All patients had low serum alkaline phosphatase levels as compared to the age-matched reference range before the commencement of AA. All HPP patients seem to have responded to AA treatment, as evidenced by pain alleviation, increased height standard deviation, improvement in respiratory condition and 6-min walk test result improvement, disappearance of kidney calcification, alleviation of fatigue, and/or increases in bone mineralization. There were no serious adverse events, but all patients had an injection site reaction and skin changes at the injection sites. Genetic analysis showed that eight out of ten patients had compound heterozygosity. CONCLUSIONS: AA may be effective in patients with mild to severe pediatric-onset forms of HPP.


Subject(s)
Hypophosphatasia , Adult , Alkaline Phosphatase/genetics , Child , Female , Humans , Hypophosphatasia/complications , Hypophosphatasia/drug therapy , Immunoglobulin G , Japan , Male , Pain/drug therapy , Rare Diseases/drug therapy , Recombinant Fusion Proteins
15.
Lancet Neurol ; 21(3): 203, 2022 03.
Article in English | MEDLINE | ID: covidwho-1692751
16.
Ital J Pediatr ; 47(1): 232, 2021 Dec 07.
Article in English | MEDLINE | ID: covidwho-1630738

ABSTRACT

In this article, we describe the advances in the field of pediatrics that have been published in the Italian Journal of Pediatrics in 2020. We report progresses in understanding allergy, autoinflammatory disorders, critical care, endocrinology, genetics, infectious diseases, microbiota, neonatology, neurology, nutrition, orthopedics, respiratory tract illnesses, rheumatology in childhood.


Subject(s)
Pediatrics/trends , COVID-19 , Child Nutrition Sciences , Critical Care , Endocrinology , Gastrointestinal Microbiome , Humans , Hypersensitivity , Infectious Disease Medicine , Neonatology , Neurology , Orthopedics , Rare Diseases , Respiratory Tract Diseases , Rheumatology
17.
Clin Pharmacol Ther ; 111(4): 799-806, 2022 04.
Article in English | MEDLINE | ID: covidwho-1626126

ABSTRACT

Global regulatory agencies have transformed their approach to approvals in their processes for formal review of the safety and efficacy of new drugs. Opportunities for innovation have expanded because of the coronavirus disease 2019 (COVID-19) pandemic. Several regulatory-led initiatives have progressed rapidly during the past year, including patient-focused drug development, model-informed drug development, real-world evidence, and complex innovative trial designs. Collectively, these initiatives have accelerated the rate of approvals. Despite demands to focus on urgent needs imposed by the COVID-19 pandemic, the number of new drug approvals over the past year, particularly for rare diseases, has outpaced expectations. Advancing therapeutics for nervous system disorders requires adaptive strategies that align with rapid developments in the field. Three relentlessly progressive diseases, amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and Parkinson's disease are in urgent need of new treatments. Herein, we propose new regulatory initiatives, including innovative trial designs and patient-focused drug development that accelerate clinical trial conduct while meeting critical regulatory requirements for therapeutic approval.


Subject(s)
COVID-19 , Muscular Dystrophy, Duchenne , COVID-19/drug therapy , Drug Approval , Humans , Muscular Dystrophy, Duchenne/drug therapy , Orphan Drug Production , Pandemics , Rare Diseases/drug therapy
18.
Hum Mol Genet ; 31(12): 2078-2089, 2022 06 22.
Article in English | MEDLINE | ID: covidwho-1621609

ABSTRACT

Recent studies have demonstrated a relevant role of the host genetics in the coronavirus disease 2019 (COVID-19) prognosis. Most of the 7000 rare diseases described to date have a genetic component, typically highly penetrant. However, this vast spectrum of genetic variability remains yet unexplored with respect to possible interactions with COVID-19. Here, a mathematical mechanistic model of the COVID-19 molecular disease mechanism has been used to detect potential interactions between rare disease genes and the COVID-19 infection process and downstream consequences. Out of the 2518 disease genes analyzed, causative of 3854 rare diseases, a total of 254 genes have a direct effect on the COVID-19 molecular disease mechanism and 207 have an indirect effect revealed by a significant strong correlation. This remarkable potential of interaction occurs for >300 rare diseases. Mechanistic modeling of COVID-19 disease map has allowed a holistic systematic analysis of the potential interactions between the loss of function in known rare disease genes and the pathological consequences of COVID-19 infection. The results identify links between disease genes and COVID-19 hallmarks and demonstrate the usefulness of the proposed approach for future preventive measures in some rare diseases.


Subject(s)
COVID-19 , Virus Diseases , COVID-19/genetics , Humans , Models, Statistical , Rare Diseases/genetics
20.
Am J Bioeth ; 21(12): 1-3, 2021 12.
Article in English | MEDLINE | ID: covidwho-1545823
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